Archive for February, 2016

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cells genetic material. When either of these genes is mutated, or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers (1) and about 5 to 10 percent of all breast cancers (2). In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall (3). Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.

A harmful BRCA1 or BRCA2 mutation can be inherited from a persons mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a persons second copy of the gene is normal.

How much does having a BRCA1 or BRCA2 gene mutation increase a womans risk of breast and ovarian cancer?

A womans lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.

Breast cancer: About 12 percent of women in the general population will develop breast cancer sometime during their lives (4). By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years (5, 6).

Ovarian cancer: About 1.3 percent of women in the general population will develop ovarian cancer sometime during their lives (4). By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation (5, 6) and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years (5, 6).

It is important to note that these estimated percentages of lifetime risk are different from those available previously; the estimates have changed as more information has become available, and they may change again with additional research. No long-term general population studies have directly compared cancer risk in women who have and do not have a harmful BRCA1 or BRCA2 mutation.

It is also important to note that other characteristics of a particular woman can make her cancer risk higher or lower than the average risks. These characteristics include her family history ofbreast, ovarian, and, possibly, other cancers; the specific mutation(s) she has inherited; and other risk factors, suchas her reproductivehistory. However, at this time, based on current data, none of these other factors seems to be as strong as the effect of carrying a harmful BRCA1 or BRCA2 mutation.

What other cancers have been linked to mutations in BRCA1 and BRCA2?

Are mutations in BRCA1 and BRCA2 more common in certain racial/ethnic populations than others?

Yes. For example, people of Ashkenazi Jewish descent have a higher prevalence of harmful BRCA1 and BRCA2 mutations than people in the general U.S. population. Other ethnic and geographic populations around the world, such as the Norwegian, Dutch, and Icelandic peoples, also have a higher prevalence of specific harmful BRCA1 and BRCA2 mutations.

In addition, limited data indicate that the prevalence of specific harmful BRCA1 and BRCA2 mutations may vary among individual racial and ethnic groups in the United States, including African Americans, Hispanics, Asian Americans, and non-Hispanic whites (15, 16).

Are genetic tests available to detect BRCA1 and BRCA2 mutations?

Yes. Several different tests are available, including tests that look for a known mutation in one of the genes (i.e., a mutation that has already been identified in another family member) and tests that check for all possible mutations in both genes. DNA (from a blood or saliva sample) is needed for mutation testing. The sample is sent to a laboratory for analysis. It usually takes about a month to get the test results.

Who should consider genetic testing for BRCA1 and BRCA2 mutations?

Because harmful BRCA1 and BRCA2 gene mutations are relatively rare in the general population, most experts agree that mutation testing of individuals who do not have cancer should be performed only when the persons individual or family history suggests the possible presence of a harmful mutation in BRCA1 or BRCA2.

In December 2013, the United States Preventive Services Task Force recommended that women who have family members with breast, ovarian, fallopian tube, or peritoneal cancer be evaluated to see if they have a family history that is associated with an increased risk of a harmful mutation in one of these genes (17).

Several screening tools are now available to help health care providers with this evaluation (17). These tools assess family history factors that are associated with an increased likelihood of having a harmful mutation in BRCA1 or BRCA2, including:

When an individual has a family history that is suggestive of the presence of a BRCA1 or BRCA2 mutation, it may be most informative to first test a family member who has cancer if that person is still alive and willing to be tested. If that person is found to have a harmful BRCA1 or BRCA2 mutation, then other family members may want to consider genetic counseling to learn more about their potential risks and whether genetic testing for mutations in BRCA1 and BRCA2 might be appropriate for them.

If it is not possible to confirm the presence of a harmful BRCA1 or BRCA2 mutation in a family member who has cancer, it is appropriate for both men and women who do not have cancer but have a family medical history that suggests the presence of such a mutation to have genetic counseling for possible testing.

Some individualsfor example, those who were adopted at birthmay not know their family history. In cases where a woman with an unknown family history has an early-onset breast cancer or ovarian cancer or a man with an unknown family history is diagnosed with breast cancer, it may be reasonable for that individual to consider genetic testing for a BRCA1 or BRCA2 mutation. Individuals with an unknown family history who do not have an early-onset cancer or male breast cancer are at very low risk of having a harmful BRCA1 or BRCA2 mutation and are unlikely to benefit from routine genetic testing.

Professional societies do not recommend that children, even those with a family history suggestive of a harmful BRCA1 or BRCA2 mutation, undergo genetic testing for BRCA1 or BRCA2. This is because no risk-reduction strategies exist for children, and children's risks of developing a cancer type associated with a BRCA1 or BRCA2 mutation are extremely low. After children with a family history suggestive of a harmful BRCA1 or BRCA2 mutation become adults, however, they may want to obtain genetic counseling about whether or not to undergoing genetic testing.

Should people considering genetic testing for BRCA1 and BRCA2 mutations talk with a genetic counselor?

Genetic counseling is generally recommended before and after any genetic test for an inherited cancer syndrome. This counseling should be performed by a health care professional who is experienced in cancer genetics. Genetic counseling usually covers many aspects of the testing process, including:

How much does BRCA1 and BRCA2 mutation testing cost?

The Affordable Care Act considers genetic counseling and BRCA1 and BRCA2 mutation testing for individuals at high risk a covered preventive service. People considering BRCA1 and BRCA2 mutation testing may want to confirm their insurance coverage for genetic tests before having the test.

Some of the genetic testing companies that offer testing for BRCA1 and BRCA2 mutations may offer testing at no charge to patients who lack insurance and meet specific financial and medical criteria.

What does a positive BRCA1 or BRCA2 genetic test result mean?

BRCA1 and BRCA2 gene mutation testing can give several possible results: a positive result, a negative result, or an ambiguous or uncertain result.

A positive test result indicates that a person has inherited a known harmful mutation in BRCA1 or BRCA2 and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot tell whether or when an individual will actually develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.

A positive genetic test result may also have important health and social implications for family members, including future generations. Unlike most other medical tests, genetic tests can reveal information not only about the person being tested but also about that persons relatives:

What does a negative BRCA1 or BRCA2 test result mean?

A negative test result can be more difficult to understand than a positive result because what the result means depends in part on an individuals family history of cancer and whether a BRCA1 or BRCA2 mutation has been identified in a blood relative.

If a close (first- or second-degree) relative of the tested person is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: it means that person does not carry the harmful mutation that is responsible for the familial cancer, and thus cannot pass it on to their children. Such a test result is called a true negative. A person with such a test result is currently thought to have the same risk of cancer as someone in the general population.

If the tested person has a family history that suggests the possibility of having a harmful mutation in BRCA1 or BRCA2 but complete gene testing identifies no such mutation in the family, a negative result is less clear. The likelihood that genetic testing will miss a known harmful BRCA1 or BRCA2 mutation is very low, but it could happen. Moreover, scientists continue to discover new BRCA1 and BRCA2 mutations and have not yet identified all potentially harmful ones. Therefore, it is possible that a person in this scenario with a "negative" test result actually has an as-yet unknown harmful BRCA1 or BRCA2 mutation that has not been identified.

It is also possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test used. People considering genetic testing for BRCA1 and BRCA2 mutations may want to discuss these potential uncertainties with a genetic counselor before undergoing testing.

What does an ambiguous or uncertain BRCA1 or BRCA2 test result mean?

Sometimes, a genetic test finds a change in BRCA1 or BRCA2 that has not been previously associated with cancer. This type of test result may be described as ambiguous (often referred to as a genetic variant of uncertain significance) because it isnt known whether this specific gene change affects a persons risk of developing cancer. One study found that 10 percent of women who underwent BRCA1 and BRCA2 mutation testing had this type of ambiguous result (18).

As more research is conducted and more people are tested for BRCA1 and BRCA2 mutations, scientists will learn more about these changes and cancer risk. Genetic counseling can help a person understand what an ambiguous change in BRCA1 or BRCA2 may mean in terms of cancer risk. Over time, additional studies of variants of uncertain significance may result in a specific mutation being re-classified as either harmful or clearly not harmful.

How can a person who has a positive test result manage their risk of cancer?

Several options are available for managing cancer risk in individuals who have a known harmful BRCA1 or BRCA2 mutation. These include enhanced screening, prophylactic (risk-reducing) surgery, and chemoprevention.

Enhanced Screening. Some women who test positive for BRCA1 and BRCA2 mutations may choose to start cancer screening at younger ages than the general population or to have more frequent screening. For example, some experts recommend that women who carry a harmful BRCA1 or BRCA2 mutation undergo clinical breast examinations beginning at age 25 to 35 years (19). And some expert groups recommend that women who carry such a mutation have a mammogram every year, beginning at age 25 to 35 years.

Enhanced screening may increase the chance of detecting breast cancer at an early stage, when it may have a better chance of being treated successfully. Women who have a positive test result should ask their health care provider about the possible harms of diagnostic tests that involve radiation (mammograms or x-rays).

Recent studies have shown that MRI may be more sensitive than mammography for women at high risk of breast cancer (20, 21). However, mammography can also identify some breast cancers that are not identified by MRI (22), and MRI may be less specific (i.e., lead to more false-positive results) than mammography. Several organizations, such as the American Cancer Society and the National Comprehensive Cancer Network, now recommend annual screening with mammography and MRI for women who have a high risk of breast cancer.

No effective ovarian cancer screening methods currently exist. Some groups recommend transvaginal ultrasound, blood tests for the antigen CA-125, and clinical examinations for ovarian cancer screening in women with harmful BRCA1 or BRCA2 mutations, but none of these methods appears to detect ovarian tumors at an early enough stage to reduce the risk of dying from ovarian cancer (23). For a screening method to be considered effective, it must have demonstrated reduced mortality from the disease of interest. This standard has not yet been met for ovarian cancer screening.

The benefits of screening for breast and other cancers in men who carry harmful mutations in BRCA1 or BRCA2 is also not known, but some expert groups recommend that men who are known to carry a harmful mutation undergo regular mammography as well as testing for prostate cancer. The value of these screening strategies remains unproven at present.

Prophylactic (Risk-reducing) Surgery. Prophylactic surgery involves removing as much of the "at-risk" tissue as possible. Women may choose to have both breasts removed (bilateral prophylactic mastectomy) to reduce their risk of breast cancer. Surgery to remove a woman's ovaries and fallopian tubes (bilateral prophylactic salpingo-oophorectomy) can help reduce her risk of ovarian cancer. Removing the ovaries also reduces the risk of breast cancer in premenopausal women by eliminating a source of hormones that can fuel the growth of some types of breast cancer.

No evidence is available regarding the effectiveness of bilateral prophylactic mastectomy in reducing breast cancer risk in men with a harmful BRCA1 or BRCA2 mutation or a family history of breast cancer. Therefore, bilateral prophylactic mastectomy for men at high risk of breast cancer is considered an experimental procedure, and insurance companies will not normally cover it.

Prophylactic surgery does not completely guarantee that cancer will not develop because not all at-risk tissue can be removed by these procedures. Some women have developed breast cancer, ovarian cancer, or primary peritoneal carcinomatosis (a type of cancer similar to ovarian cancer) even after prophylactic surgery. Nevertheless, the mortality reduction associated with this surgery is substantial: Research demonstrates that women who underwent bilateral prophylactic salpingo-oophorectomy had a nearly 80 percent reduction in risk of dying from ovarian cancer, a 56 percent reduction in risk of dying from breast cancer (24), and a 77 percent reduction in risk of dying from any cause (25).

Emerging evidence (25) suggests that the amount of protection that removing the ovaries and fallopian tubes provides against the development of breast and ovarian cancer may be similar for carriers of BRCA1 and BRCA2 mutations, in contrast to earlier studies (26).

Chemoprevention. Chemoprevention is the use of drugs, vitamins, or other agents to try to reduce the risk of, or delay the recurrence of, cancer. Although two chemopreventive drugs (tamoxifen and raloxifene) have been approved by the U.S. Food and Drug Administration (FDA) to reduce the risk of breast cancer in women at increased risk, the role of these drugs in women with harmful BRCA1 or BRCA2 mutations is not yet clear.

Data from three studies suggest that tamoxifen may be able to help lower the risk of breast cancer in BRCA1 and BRCA2 mutation carriers (27), including the risk of cancer in the opposite breast among women previously diagnosed with breast cancer (28, 29). Studies have not examined the effectiveness of raloxifene in BRCA1 and BRCA2 mutation carriers specifically.

Oral contraceptives (birth control pills) are thought to reduce the risk of ovarian cancer by about 50 percent both in the general population and in women with harmful BRCA1 or BRCA2 mutations (30).

What are some of the benefits of genetic testing for breast and ovarian cancer risk?

There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.

The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one's children are not at risk of inheriting the family's cancer susceptibility, and the possibility that special checkups, tests, or preventive surgeries may not be needed.

A positive test result may bring relief by resolving uncertainty regarding future cancer risk and may allow people to make informed decisions about their future, including taking steps to reduce their cancer risk. In addition, people who have a positive test result may choose to participate in medical research that could, in the long run, help reduce deaths from hereditary breast and ovarian cancer.

What are some of the possible harms of genetic testing for breast and ovarian cancer risk?

The direct medical harms of genetic testing are minimal, but knowledge of test results may have harmful effects on a persons emotions, social relationships, finances, and medical choices.

People who receive a positive test result may feel anxious, depressed, or angry. They may have difficulty making choices about whether to have preventive surgery or about which surgery to have.

People who receive a negative test result may experience survivor guilt, caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more loved ones.

Because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families. Test results can also affect personal life choices, such as decisions about career, marriage, and childbearing.

Violations of privacy and of the confidentiality of genetic test results are additional potential risks. However, the federal Health Insurance Portability and Accountability Act and various state laws protect the privacy of a persons genetic information. Moreover, the federal Genetic Information Nondiscrimination Act, along with many state laws, prohibits discrimination based on genetic information in relation to health insurance and employment, although it does not cover life insurance, disability insurance, or long-term care insurance.

Finally, there is a small chance that test results may not be accurate, leading people to make decisions based on incorrect information. Although inaccurate results are unlikely, people with these concerns should address them during genetic counseling.

What are the implications of having a harmful BRCA1 or BRCA2 mutation for breast and ovarian cancer prognosis and treatment?

A number of studies have investigated possible clinical differences between breast and ovarian cancers that are associated with harmful BRCA1 or BRCA2 mutations and cancers that are not associated with these mutations.

There is some evidence that, over the long term, women who carry these mutations are more likely to develop a second cancer in either the same (ipsilateral) breast or the opposite (contralateral) breast than women who do not carry these mutations. Thus, some women with a harmful BRCA1 or BRCA2 mutation who develop breast cancer in one breast opt for a bilateral mastectomy, even if they would otherwise be candidates for breast-conserving surgery. In fact, because of the increased risk of a second breast cancer among BRCA1 and BRCA2 mutation carriers, some doctors recommend that women with early-onset breast cancer and those whose family history is consistent with a mutation in one of these genes have genetic testing when breast cancer is diagnosed.

Breast cancers in women with a harmful BRCA1 mutation are also more likely to be "triple-negative cancers" (i.e., the breast cancer cells do not have estrogen receptors, progesterone receptors, or large amounts of HER2/neu protein), which generally have poorer prognosis than other breast cancers.

Because the products of the BRCA1 and BRCA2 genes are involved in DNA repair, some investigators have suggested that cancer cells with a harmful mutation in either of these genes may be more sensitive to anticancer agents that act by damaging DNA, such as cisplatin. In preclinical studies, drugs called PARP inhibitors, which block the repair of DNA damage, have been found to arrest the growth of cancer cells that have BRCA1 or BRCA2 mutations. These drugs have also shown some activity in cancer patients who carry BRCA1 or BRCA2 mutations, and researchers are continuing to develop and test these drugs.

What research is currently being done to help individuals with harmful BRCA1 or BRCA2 mutations?

Research studies are being conducted to find new and better ways of detecting, treating, and preventing cancer in people who carry mutations in BRCA1 and BRCA2. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly.

Information about active clinical trials (research studies with people) for individuals with BRCA1 or BRCA2 mutations is available on NCIs website. The following links will retrieve lists of clinical trials open to individuals with BRCA1 or BRCA2 mutations.

NCIs Cancer Information Service (CIS) can also provide information about clinical trials and help with clinical trial searches.

Do inherited mutations in other genes increase the risk of breast and/or ovarian tumors?

Yes. Although harmful mutations in BRCA1 and BRCA2 are responsible for the disease in nearly half of families with multiple cases of breast cancer and up to 90 percent of families with both breast and ovarian cancer, mutations in a number of other genes have been associated with increased risks of breast and/or ovarian cancers (2, 31). These other genes include several that are associated with the inherited disorders Cowden syndrome, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, and Fanconi anemia, which increase the risk of many cancer types.

Most mutations in these other genes are associated with smaller increases in breast cancer risk than are seen with mutations in BRCA1 and BRCA2. However, researchers recently reported that inherited mutations in the PALB2 gene are associated with a risk of breast cancer nearly as high as that associated with inherited BRCA1 and BRCA2 mutations (32). They estimated that 33 percent of women who inherit a harmful mutation in PALB2 will develop breast cancer by age 70 years. The estimated risk of breast cancer associated with a harmful PALB2 mutation is even higher for women who have a family history of breast cancer: 58 percent of those women will develop breast cancer by age 70 years.

PALB2, like BRCA1 and BRCA2, is a tumor suppressor gene. The PALB2 gene produces a protein that interacts with the proteins produced by the BRCA1 and BRCA2 genes to help repair breaks in DNA. Harmful mutations in PALB2 (also known as FANCN) are associated with increased risks of ovarian, pancreatic, and prostate cancers in addition to an increased risk of breast cancer (13, 33, 34). Mutations in PALB2, when inherited from each parent, can cause a Fanconi anemia subtype, FA-N, that is associated with childhood solid tumors (13, 33, 35).

Although genetic testing for PALB2 mutations is available, expert groups have not yet developed specific guidelines for who should be tested for, or the management of breast cancer risk in individuals with, PALB2 mutations.

Excerpt from:
BRCA1 and BRCA2: Cancer Risk and Genetic Testing

Since their discovery/invention a little less than a decade ago, induced pluripotent stem (iPS) cells inspired hope to become a powerful tool for drug discovery and development applications. With advances in reprogramming and differentiation technologies, as well as with the recent availability of gene editing approaches, we are finally able to create more complex and phenotypically accurate cellular models based on iPS cell technology. This opens new and exciting opportunities for iPS cell utilization in early discovery, preclinical and translational research. Cambridge Healthtech Institutes inaugural iPS Cell Technology in Drug Discovery and Development conference is designed to bring together experts and bench scientists working with iPS cells and end users of their services, researchers working on finding cures for specific diseases and disorders.

Final Agenda

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Wednesday, June 15

7:00 am Registration and Morning Coffee

8:25 Chairpersons Opening Remarks

8:35 KEYNOTE PRESENTATION: iPS CELL TECHNOLOGY, GENE EDITING AND DISEASE RESEARCH

Rudolf Jaenisch, M.D., Founding Member, Whitehead Institute for Biomedical Research; Professor, Department of Biology, Massachusetts Institute of Technology

The development of the iPS cell technology has revolutionized our ability to study human diseases in defined in vitro cell culture systems. A major problem of using iPS cells for this disease in the dish approach is the choice of control cells because of the unpredictable variability between different iPS / ES cells to differentiate into a given lineage. Recently developed efficient gene editing methods such as the CRISPR/Cas system allow the creation of genetically defined models of monogenic as well as polygenic human disorders.

9:05 iPSC Genome Editing: From Modeling Disease to Novel Therapeutics

Chad Cowan, Ph.D., Associate Professor, Harvard Department of Stem Cell & Regenerative Biology (HSCRB)

Our goal is to understand how naturally occurring human genetic variation protects (or predisposes) some people to cardiovascular and metabolic diseasethe leading cause of death in the worldand to use that information to develop therapies that can protect the entire population from disease.

9:35 Stem Cells and Genome Editing to Enable Drug Discovery

Jeffrey Stock, Ph.D., Principal Scientist, Global R&D Groton Labs, Pfizer

Significant advances have been made in recent years in the isolation/generation and differentiation of human pluripotent stem cells (hPSC). Similarly, powerful tools for in vitro genomic editing are now readily available. When combined, these technologies make it possible to generate physiologically relevant models of human disease to enable drug discovery. In this presentation, we provide some examples of how we have applied these technologies to produce models that are suitable for target validation as well as small molecule screening.

10:05 Grand Opening Coffee Break in the Exhibit Hall with Poster Viewing

10:50 Phenotypic Diversity in a Large Cohort of iPSC-Derived Cardiomyocytes as a Platform for Response Modeling in Drug Development

Ulrich Broeckel, M.D., Professor of Pediatrics, Medicine and Physiology, Pediatrics, Medical College of Wisconsin

We will discuss the underlying concepts of phenotypic variation and the impact of genomic variation on common, complex phenotypes in iPSCs. To demonstrate this, we have established 250 iPSC cell lines from the NHLBI HyperGen study. We will discuss our approach to analyzing disease phenotypes on a molecular level using iPSC-derived cardiomyocytes. Furthermore we will present data, which provides a framework to use the obtained data for the selection of samples for compound screening and drug development.

11:20 Transcriptional and Proteomic Profiling of Human Pluripotent Stem Cell-Derived Motor Neurons: Implications for Familial Amyotrophic Lateral Sclerosis

Joseph Klim, Ph.D., Postdoctoral Scholar, Eggan Lab, Stem Cell and Regenerative Biology Department, Harvard University

We combined pluripotent stem cell technologies with both RNA sequencing and mass spectrometry-based proteomics to map alterations to mRNA and protein levels in motor neurons expressing mutant SOD1. This approach enabled us to study the effects of mutant SOD1 in purified populations of motor neurons using multiple molecular metrics over time. These investigations have afforded an unprecedented glimpse at the biochemical make-up of human stem cell-derived motor neurons and how they change in culture.

11:50 Presentation to be Announced

Yoko Ejiri, Researcher, Microdevice Team, New Business Development Division, Kuraray Co. Ltd.

12:05 Sponsored Presentation (Opportunity Available)

12:20 pm Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

12:50 Session Break

1:40 Chairpersons Remarks

Vikram Khurana, M.D., Co-Founder and Vice President, Discovery Technologies, Yumanity Therapeutics

1:50 High-Throughput Phenotyping of Human PSC Derived Neurons

Bilada Bilican, Ph.D., Investigator II, Neuroscience, Novartis Institutes for BioMedical Research (NIBR)

We established a fully automated human pluripotent stem cell (PSC) maintenance and excitatory cortical neuronal differentiation platform that enables parallel phenotyping of many different lines at once. This human disease-modeling platform is being integrated into Novartis lead discovery pipeline to identify new targets, molecules, and to elucidate cellular aspects of human neuronal biology.

2:20 Modeling ALS with Patient Specific iPSCs

Shila Mekhoubad, Ph.D., Scientist, Stem Cell Biology Lab, Biogen

Advances in stem cell biology and neuronal differentiations have provided a new platform to study ALS in vitro. Here we will describe our use of induced pluripotent stem cells (iPSCs) from patients with familial ALS to establish new models and tools that can contribute to the development and validation of novel ALS therapeutics.

2:50 Refreshment Break in the Exhibit Hall with Poster Viewing

3:35 Modeling Huntingtons Disease in IPS Cells: Development and Validation of Phenotypes Relevant for Disease

Kimberly B. Kegel-Gleason, Ph.D., Assistant Professor in Neurology, Massachusetts General Hospital & Harvard Medical School

Huntingtons disease (HD) is a neurodegenerative disease caused by a CAG expansion in the HD gene. Using induced pluripotent stem (IPS) cells from controls and HD patients with low and medium CAG repeat expansions, we are developing assays for target validation and drug discovery based on phenotypic changes observed in PI 3-kinase dependent signaling, Rac activation and cell motility in microfluidic channels.

4:05 From Yeast to Patient iPS Cells: A Drug Discovery Pipeline for Neurodegeneration

Vikram Khurana, M.D., Co-Founder and Vice President, Discovery Technologies, Yumanity Therapeutics

Phenotypic screening in neurons and glia derived from patients is now conceivable through unprecedented developments in reprogramming, transdifferentiation, and genome editing. We outline progress in this nascent field, but also consider the formidable hurdles to identifying robust, disease-relevant and screenable cellular phenotypes in patient-derived cells. We illustrate how analysis in the simple bakers yeast cell Saccharaomyces cerevisiae is driving discovery in patient-derived neurons, and how approaches in this model organism can establish a paradigm to guide the development of stem cell-based phenotypic screens.

4:35 Sponsored Presentation (Opportunity Available)

5:05 PANEL DISCUSSION: iPSC-Based Neurodegenerative Disease Modeling

Moderator: Vikram Khurana, M.D., Co-Founder and Vice President, Discovery Technologies, Yumanity Therapeutics

Human neurodegenerative disorders are among the most difficult to study. This panel will discuss existing and future models for major neurodegenerative diseases.

5:35 Welcome Reception in the Exhibit Hall with Poster Viewing

6:45 Close of Day

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Thursday, June 16

7:00 am Registration.

7:30 Interactive Breakout Discussion Groups with Continental Breakfast

This session features various discussion groups that are led by a moderator/s who ensures focused conversations around the key issues listed. Attendees choose to join a specific group and the small, informal setting facilitates sharing of ideas and active networking. Continental breakfast is available for all participants.

Modeling neurodegenerative disorders for drug discovery and development

Moderator: Bilada Bilican, Ph.D., Investigator II, Neuroscience, Novartis Institutes for BioMedical Research (NIBR)

iPS Cell Technology Enabled Organ-on-Chip Models

Moderator: James Hickman, Ph.D., Professor, NanoScience Technology Center, University of Central Florida

Gene Editing in iPS Cells: Technology and Major Applications

Moderator:Joseph Klim Ph.D., Postdoctoral Scholar, Eggan Lab, Stem Cell and Regenerative Biology Department

8:35 Chairpersons Remarks

James J. Hickman, Ph.D., Founding Director, NanoScience Technology Center and Professor, Nanoscience Technology, Chemistry, Biomolecular Science, Material Science and Electrical Engineering, University of Central Florida

8:45 Utilization of iPSCs in Developing Human-on-a-Chip Systems for Phenotypic Screening Applications

James J. Hickman, Ph.D., Founding Director, NanoScience Technology Center and Professor, Nanoscience Technology, Chemistry, Biomolecular Science, Material Science and Electrical Engineering, University of Central Florida

Our lab is developing multi-organ human-on-a-chip systems for evaluating toxicity and efficacy compounds for drug discovery applications. Validation of the systems has already indicated good agreement with previous literature values, which gauges well for the predictive power of these platforms. Applications for neurodegenerative diseases, metabolic disorders as well as cardiac and muscle deficiencies will be highlighted in the talk.

9:15 Human-Induced Pluripotent Stem Cells Recapitulate Breast Cancer Patients Predilection to Doxorubicin-Induced Cardiotoxicity

Paul W. Burridge, Ph.D., Assistant Professor, Department of Pharmacology, Center for Pharmacogenomics, Northwestern University Feinberg School of Medicine

The ability to predict which patients are likely to experience cardiotoxicity as a result of their chemotherapy represents a powerful clinical tool to attenuate this devastating side-effect. We report our progress towards this aim using the hiPSC cell model, a battery of in vitro assays, and machine learning.

9:45 Utilization of Induced Pluripotent Stem Cells to Understand Tyrosine Kinase Inhibitors (TKIs)-Induced Hepatotoxicity

Qiang Shi, Ph.D., Principal Investigator, Division of Systems Biology, National Center for Toxicological Research (NCTR), U.S. FDA

For cancer patients, the benefits of anti-cancer agents are often countered by hepatotoxicity. The purpose of current study is to predict tyrosine kinase inhibitors (TKIs)-induced toxicity using rat primary hepatocytes and human induced pluripotent stem cell (iPSC) -derived hepatocytes. Multi-parameter cellular endpoints have been used to examine the utilization of iPSC in safety screening. Data on cross-species comparison from rodent to human will be presented.

10:15 Coffee Break in the Exhibit Hall with Poster Viewing

10:55 Chairpersons Remarks

Joseph Klim, Ph.D., Postdoctoral Scholar, Eggan Lab, Stem Cell and Regenerative Biology Department, Harvard University

11:00 KEYNOTE PRESENTATION: STEM CELL PROGRAMMING AND REPROGRAMMING, AND APPLICATIONS OF iPSC TECHNOLOGIES TO MODELING OF THE NEUROMUSCULAR SYSTEM AND THE DISEASES THAT AFFECT IT

Kevin C. Eggan, Ph.D., Harvard Department of Stem Cell and Regenerative Biology, Howard Hughes Medical Institute

While iPSCs have created unprecedented opportunities for drug discovery, there remains uncertainty concerning the path to the clinic for candidate therapeutics discovered with their use. Here we share lessons that we learned, and believe are generalizable to similar efforts, while taking a discovery made using iPSCs into a clinical trial.

11:30 Trans-Amniotic Stem Cell Therapy (TRASCET) for the Treatment of Birth Defects

Dario O. Fauza, M.D., Ph.D., Associate in Surgery, Boston Children's Hospital; Associate Professor, Surgery, Harvard Medical School

Trans-Amniotic Stem Cell Therapy (TRASCET) is a novel therapeutic paradigm for the treatment of birth defects. It is based on the principle of harnessing/enhancing the normal biological role of amniotic fluid-derived mesenchymal stem cells (afMSCs) for therapeutic benefit. The intra-amniotic delivery of afMSCs in large numbers can either elicit the repair, or significantly mitigate the effects associated with major congenital anomalies such as neural tube and abdominal wall defects.

12:00 pm Bridging Luncheon Presentation (Sponsorship Opportunity Available) or Enjoy Lunch on Your Own

12:30 Session Break

1:00 Coffee and Dessert in the Exhibit Hall with Poster Viewing

1:45 PLENARY KEYNOTE SESSION

3:30 Refreshment Break in the Exhibit Hall with Poster Viewing

4:15 Close of Conference

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Here is the original post:
Advances in iPS Cell Technology for Drug Development ...

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What is hypopituitarism?

Hypopituitarism (also called pituitary insufficiency) is a rare condition in which your pituitary gland doesnt make enough of certain hormones. Your body cant work properly when important glands, such as your thyroid gland and adrenal gland, dont get the hormones they need from your pituitary gland.

The pituitary gland is a pea-sized gland found at the base of your brain. It is called the master gland because it affects the action of many other important glands that produce their own hormones. The pituitary gland affects almost all parts of your body.

Hypopituitarism can develop very slowly, over several months or even over several years.

Hypopituitarism can be caused by

Sometimes, the cause is unknown.

Symptoms can include one or more of the following:

Your doctor will check your hormone levels with blood tests. You may have other tests, such as an MRI of your pituitary gland, to help find the cause of your hypopituitarism.

Treatment usually includes taking the hormones youre missing, sometimes for life. Your doctor also will teach you how to take extra cortisone (a hormone) when you are sick or under stress. If a tumor is causing your hypopituitarism, you might need surgery to remove it and/or possibly radiation treatment. If needed, you can take medicine for infertility.

You will need to get regular check-ups. Its wise to wear medical identification, such as a bracelet or pendant, which provides information about your condition in case of an emergency.

You can expect a normal life span, as long as you regularly take the medications recommended by your doctor.

Read the original here: Hypopituitarism Symptoms and Treatment | Hormone Health

Hypopituitarism is a general term that refers to any under-performance of the pituitary gland. This is a clinical definition used by endocrinologists and is interpreted to mean that one or more functions of the pituitary are deficient. The term may refer to both anterior and posterior pituitary gland failure. Below is a list of the hormones secreted by the pituitary and their functions:

In cases of hypopituitarism, single or multiple hormone deficiencies are present. The deficiencies affect the target organ activity or secretion (the thyroid; the adrenals; or the gonads, which includes both female and male sexual development and function). Causes of hypopituitarism are tumors or lesions of various origins, congenital defects, trauma, radiation, surgery, encephalitis, hemochromatosis, and stroke. In children, the condition results in slowed growth and development and is known as dwarfism. The cause may also be unknown.

Deficient pituitary gland function can result from damage to either the pituitary or the area just above the pituitary, namely the hypothalamus. The hypothalamus contains releasing and inhibitory hormones that control the pituitary. Since these hormones are necessary for normal pituitary function, damage to the hypothalamus can also result in deficient pituitary gland function. Injury to the pituitary can occur from a variety of insults, including damage from an enlarging pituitary tumor, irradiation of the pituitary gland, limited blood supply (as experienced in a stroke), trauma or abnormal iron storage (hemochromatosis). There appears to be a predictable loss of hormonal function with increasing damage. The progression from most vulnerable to least vulnerable is usually as follows:

Additional symptoms that may be associated with this disease:

Men develop testicular suppression with decreased libido, impotence, decreased ejaculate volume, loss of body and facial hair, weakness, fatigue and often anemia. On testing, blood levels of testosterone are low and should be replaced. In the United States, testosterone may be given as a bi-weekly intramuscular injection, in a patch form or as a gel or creme preparation. In some countries, oral preparations of testosterone are available.

Thyroid Stimulation Hormone (TSH) Deficiency Deficiency of thyroid hormone causes a syndrome consisting of decreased energy, increased need to sleep, intolerance of cold (inability to stay warm), dry skin, constipation, muscle aching and decreased mental functions. This variety of symptoms is very uncomfortable and is often the symptom complex that drives patients with pituitary disease to seek medical attention. Replacement therapy consists of a either T4 (thyroxine) and/or T3 (triiodothyronine). The correct dose is determined through experimentation and blood tests.

Adrenal Hormone Deficiency Deficiency of ACTH resulting in cortisol deficiency is the most dangerous and life-threatening of the hormonal deficiency syndromes. With gradual onset of deficiency over days or weeks, symptoms are often vague and may include weight loss, fatigue, weakness, depression, apathy, nausea, vomiting, anorexia and hyperpigmentation. As the deficiency becomes more serious or has a more rapid onset (Addison crisis), symptoms of confusion, stupor, psychosis, abnormal electrolytes (low serum sodium, elevated serum potassium), and vascular collapse (low blood pressure and shock) can occur. Treatment consists of cortisol administration or another similar steroid (like prednisone). For patients with acute adrenal insufficiency, rapid intravenous administration of high dose steroids is essential to reverse the crisis.

Posterior Pituitary Antidiuretic Hormone (ADH) Deficiency Replacement of antidiuretic hormone resolves the symptoms of increased thirst and urination seen in diabetes insipidus. Antidiuretic hormone (ADH) is currently replaced by administration of a synthetic type of ADH either by subcutaneous injection, intranasal spray, or by tablet, usually once or twice a day.

Endocrine substitution therapy is indicated for replacement of hormones for the affected organs. These include corticosteroids, thyroid hormone, sex hormones (testosterone for men and estrogen for women), and growth hormone. Drugs are available to treat associated infertility in men and women.

Growth hormone is only available in injectable form and is usually given 6-7 times per week. Homeopathic GH or IGF has been proven to provide benefits in blinded trials.

Follow this link: Hypopituitarism Symptoms, Diagnosis, Treatment and

What are the symptoms of hypopituitarism?

The symptoms of hypopituitarism depend on the specific hormone that is lacking. For example, patients with reduced ACTH secretion have low cortisol levels, which can result in loss of appetite, weight loss, nausea, vomiting, fatigue, weakness and/or lightheadedness. This condition is called adrenal insufficiency. Patients with reduced TSH secretion have low thyroid hormone levels resulting in a condition called hypothyroidism. Signs and symptoms of hypothyroidism can include weight gain, fatigue, dry skin, constipation, cold intolerance and hair loss. Women of reproductive age with reduced LH and FSH secretion develop amenorrhea (absence of menstrual periods), infertility, and bone loss due to low estrogen levels. Men with low LH and FSH levels develop low testosterone levels, which results in lack of libido (sex drive), erectile dyfunction, infertility, fatigue, body composition abnormalities (loss of muscle mass and an increase in abdominal fat), bone loss, and sometimes, depression. Low growth hormone (GH) in children leads to short stature. In adults, GH deficiency is associated with a diminished quality of life, body composition abnormalities (including a reduction in muscle mass and increase in abdominal fat mass) and low bone density. Women with low prolactin are unable to breastfeed, but there are no known adverse effects of low prolactin in men.

Pituitary Symptoms

Hypopituitarism is caused by damage to the pituitary gland, usually from a tumor, radiation, surgery. Traumatic brain injury and subarachnoid hemorrhages can also cause hypopituitarism. Occasionally inflammation can cause hypopituitarism and sometimes the cause is unclear. Medications can also cause hypopituitarism. For example, high-dose steroid use can lead to adrenal insufficiency and anabolic steroid use can result in low testosterone that lasts beyond the time in which the medication is used and can be permanent.

Research Studies

The complications of hypopituitarism are due to the specific hormone deficiency. See What are the symptoms of hypopituitarism above. Patient with hypopituitarism not receiving appropriate hormone replacement therapies have an increased risk of mortality.

Research Studies

Youre likely to start by seeing your family doctor or a general practitioner. However, in some cases when you call to set up an appointment, you may be referred immediately to an endocrinologist, a doctor who specializes in endocrine (hormonal) disorders.

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Our clinic assistants will help you update your hospital registration and insurance information.

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Hypopituitarism (Medical Condition) Symptoms, risk factors and treatments of Hypopituitarism (Medical Condition) Hypopituitarism is the decreased secretion of one or more of the eight hormones normally produced by the pituitary

By: Medical Condition Information

Originally posted here: Hypopituitarism (Medical Condition) Video

Hypopituitarism is the failure of production of one or more hormones from the pituitary gland.

Hypopit; pituitary insufficiency; partial hypopituitarism; panhypopituitarism (pan referring to all pituitary hormones being affected); anterior hypopituitarism.

Hypopituitarism is failure of the pituitary gland to produce one, some, or all of the hormones it normally produces. The pituitary gland has two parts, anterior pituitary and posterior pituitary, and hormone production can be affected in both parts.

Below are listed some of the causes of hypopituitarism:

The signs and symptoms of hypopituitarism depend on which of the pituitary gland hormones are involved, to what extent and for how long. It also depends on whether the hormone deficiencies began as a child or later in adult life. Symptoms can be slow at the start and vague.It is worth understanding the normal function and effects of these hormones in order to understand the signs and symptoms of hypopituitarism. (See the article on pituitary gland.) There may also be additional symptoms due to the underlying cause of the hypopituitarism, such as the effects of pressure from a tumour.

Symptoms can include:

Hypopituitarism is rare. At any given time, between 300 and 455 people in a million may have hypopituitarism. A number of endocrinologists believe that hypopituitarism is quite common after brain injuries. If this belief is confirmed, then hypopituitarism may be significantly more common than previously believed.

Most cases of hypopituitarism are not inherited.However, there are some very rare genetic abnormalities than can cause hypopituitarism.

Blood tests are required to check the level of the hormones which are either produced by the pituitary gland itself or peripheral endocrine glands controlled by the pituitary gland. These blood tests may be one-off samples or the patient may require more detailed testing on a day-unit. These are called dynamic tests and they measure hormone levels before and after stimulation to see if the normal pituitary gland is working properly.They usually last between1 to 4 hours.

If it is suspected that there is a lack of anti-diuretic hormone, the doctor may organise a water deprivation test. The patient will be deprived of water for a period of eight hours under very close supervision with regular blood and urine tests.The test may be extended to a 24 hour period if needed which means an overnight stay in hospital.

See more here: You & Your Hormones | Endocrine conditions | Hypopituitarism

Hypopituitarism is a general term that refers to any under function of the pituitary gland. This is a clinical definition used by endocrinologists and is interpreted to mean that one or more functions of the pituitary are deficient. The term may refer to both anterior and posterior pituitary gland failure.

Deficient pituitary gland function can result from damage to either the pituitary or the area just above the pituitary, the hypothalamus. The hypothalamus contains releasing and inhibitory hormones which control the pituitary. Since these hormones are necessary for normal pituitary function, damage to the hypothalamus can also result in deficient pituitary gland function. Injury to the pituitary can occur from a variety of insults, including damage from an enlarging pituitary tumor, irradiation to the pituitary, pituitary apoplexy, trauma and abnormal iron storage (hemochromatosis). With increasing damage there is a progressive decrease in function. There appears to be a predictable loss of hormonal function with increasing damage. The progression from most vulnerable to least vulnerable is usually as follows: first is growth hormone (GH), next the gonadotropins (LH and FSH which control sexual/reproductive function), followed by TSH (which control thyroid hormone release) and finally the last to be lost is typically ACTH (which controls adrenal function).

Sheehans syndrome is a condition that may occur in a woman who has a severe uterine hemorrhage during childbirth. The resulting severe blood loss causes tissue death in her pituitary gland and leads to hypopituitarism following the birth. For more on this Sheehans syndrome, please visit MedlinePlus on Sheehans Syndrome.

Deficiency of ACTH resulting in cortisol deficiency is the most dangerous and life threatening of the hormonal deficiency syndromes. With gradual onset of deficiency over days or weeks, symptoms are often vague and may include weight loss, fatigue, weakness, depression, apathy, nausea, vomiting, anorexia and hyperpigmentation. As the deficiency becomes more serious or has a more rapid onset, (Addisonian crisis) symptoms may include confusion, stupor, psychosis, abnormal electrolytes (low serum sodium, elevated serum potassium), and vascular collapse (low blood pressure and shock) which can be fatal. Treatment consists of cortisol administration or another similar steroid (like prednisone). For patients with acute adrenal insufficiency (Addisonian crisis), rapid intravenous administration of high dose steroids is essential to reverse the crisis.

Deficiency of thyroid hormone causes a syndrome consisting of decreased energy, increased need to sleep, intolerance of cold (inability to stay warm), dry skin, constipation, muscle aching and decreased mental functions. This constellation of symptoms is very uncomfortable and is often the symptom complex that drives patients with pituitary disease to seek medical attention. Replacement therapy consists of a daily pill called thyroxine (Synthroid, Levothyroxine etc). The correct dose is determined through blood tests.

Women develop ovarian suppression with irregular periods or absence of periods (amenorrhea), infertility, decreased libido, decreased vaginal secretions, breast atrophy, and osteoporosis. Blood levels of estradiol are low. Estrogen should be replaced and can be given orally as Premarin or estrace, or can be given as a patch applied twice weekly. Women taking estrogen also need to take progesterone replacement (unless they have undergone a hysterectomy). Annual pap smears and mammograms are mandatory.

Men develop testicular suppression with decreased libido, impotence, decreased ejaculate volume, loss of body and facial hair, weakness, fatigue and often anemia. On testing, blood levels of testosterone are low and should be replaced. In the United States, testosterone may be given as a bi-weekly intramuscular injection, a patch form, or a gel preparation. In other countries, oral preparations of testosterone are available.

Growth hormone is necessary in children for growth, but also appears necessary in adults to maintain normal body composition (muscle and bone mass). It may also be helpful for maintaining an adequate energy level, optimal cardiovascular status and some mental functions. Symptoms of GH deficiency in adults include fatigue, poor exercise performance and symptoms of social isolation. GH is only available in injectable form and must be given 6-7 times per week.

This problem arises from damage to the pituitary stalk or the posterior pituitary gland. It may occur transiently after transsphenoidal surgery but is rarely permanent. Patients with diabetes insipidus have increased thirst and urination. Replacement of antidiuretic hormone resolves these symptoms. Antidiuretic hormone (ADH) is currently replaced by administration of DDAVP (also called Desmopressin) a synthetic type of ADH. DDAVP can be given by subcutaneous injection, intranasal spray, or by tablet, usually once or twice a day.

Go here to read the rest: Pituitary Network Association Disorders Hypopituitarism

How to Pronounce Hypopituitarism This video shows you how to pronounce Hypopituitarism.

By: Pronunciation Guide

See more here: How to Pronounce Hypopituitarism Video

Over the past two decades or so, weve learned a lot about how the pituitary gland develops. Today, that ever-evolving knowledge helps us better serve our patients and their families.

Laurie Cohen, MD, director, Neuroendocrinology Program

You may have never heard of hypopituitarism until your child was diagnosed with it. Hypopituitarism occurs when the anterior (front) lobe of the pituitary gland loses its ability to make hormones. The resulting symptoms depend on which hormones are no longer being produced by the gland.

The good news is that treating the underlying condition thats causing your childs hypopituitarism often leads to a full recovery.

How Childrens Hospital Boston approaches hypopituitarism

At Childrens, you can rest assured knowing that your child will be cared for by knowledgeable physicians whove devoted their careers to understanding this condition. We treat children with hypopituitarism in our General Endocrinology Programa multidisciplinary program dedicated to the treatment of children with a wide range of endocrinological disorders. For these children, our dedicated team of doctors, nurses and other caregivers offer hope for a healthier future.

Ranked #1 in Endocrinology In 2014, Boston Childrens Hospital was ranked #1 in Endocrinology by U.S. News & World Report.

Reviewed by Laurie Cohen, MD Childrens Hospital Boston, 2010

More here: Hypopituitarism | Boston Childrens Hospital

Hypopituitarism refers to under-function of the Pituitary Gland. The term refers to both anterior and posterior pituitary gland dysfunction. It may be temporary or permanent. Panhypopituitarism refers to complete loss of all pituitary function. Patients with pan-hypopituitarism should carry a Medic Alert Bracelet at all times to notify health care personnel of this problem in case of an emergency.

There appears to be a predictable loss of hormonal function: the growth hormone (GH), luteinizing hormone (LH) and follicle-stimulating hormone (FSH) secreting cells appear most vulnerable while thyroid stimulating (TSH) and adrenocorticotropic hormone (ACTH) secreting cells are less vulnerable. Approximately 50% of patients will have some recovery of pituitary function after surgical removal of a pituitary adenoma. Approximately 45% will have no recovery or change, and 5% will have diminished pituitary function.

Deficiency of Acth and Cortisol

Treatment consists of glucocorticoids (hydrocortisone, dexamethasone or prednisone). For patients with acute adrenal insufficiency (Addisonian crisis), rapid intravenous administration of high dose steroids is essential.

Definciency of TSH and Thyroid Hormone

Treatment with thyroxin (Synthroid) reverses the symptoms and signs over days or weeks and requires careful monitoring of free T4 or total T4 (thyroid function levels).

Deficiency of LH and FSH (Hypogonadotropic Hypogonadism)

Women on estrogen also need progesterone. Men with hypogonadism develop decreased libido, impotence, decreased ejaculate volume, loss of body and facial hair, weakness, fatigue and often anemia. Blood testosterone levels are low and should be replaced as a daily patch or gel or as an injection every 2-3 weeks.

Growth Hormone Deficiency

Antidiuretic Hormone Deficiency (ADH) and Diabetes Insipidus (DI)

Read the original post: Hypopituitarism (Pituitary Gland Failure) | Providence

Home Frequently asked HYPOPITUITARY questions.and their answers

When not on any thyroid meds, you find yourself with a very low TSH lab (the TSH is a pituitary hormone), yet you have a low free T3, plus hypothyroid symptoms, you may have hypopituitarism.

Here are the most frequently asked questions concerning this condition, created by Chris, a hypopituitary patient who has worked with other hypopituitary patients for several years. Please note these are quick general answers so its recommended you do your own research to learn more. You can also join Chriss Hypopituitary Support Group on Yahoo. It is closed to posting, but you can join to access the great deal of information it contains, including over 500 links and 100 files.

1) What is hypopituitarism? 2) What are symptoms of hypopituitarism? 3) What causes hypopituitarism? 4) Is adrenal and/or thyroid treatment different if I am hypopituitary? 5) What labs will detect hypopituitarism? 6) If I cant afford all those labs, can you tell just from TSH? DHEA? 7) Can you detect hypopituitarism from saliva cortisol labs? 8 ) Im already on HC, can I test cortisol or ACTH levels? 9) Is there any test for hypopituitarism once Im already on HC? 10) If one pituitary hormone is low, does that mean all of them are? 11) My Dr or Insurance wont approve further tests what should I do? 12) Should I start treating the sex hormones right away? 13) Is hypopituitarism curable? 14) My doctor says my cortisol doubled during the ACTH stimulation test, so I am ok-is he right? 15) Could I have a pituitary tumor? Should I get an MRI? Is it gonna grow? Will I need an operation? 16) Are there shades of Gray on this? Does someone get sort-of hypo-pit, then then next guys labs even more so, then finally one sets off the buzzer and gets a definitive label of Hypo-Pit? 1) What is hypopituitarism? Hypopituitary is the pituitary gland functioning below where it needs to be, and one or more hormones can be involved. The pituitary is a pea sized gland located at the base of the brain and it runs the adrenals, thyroid, and sex hormones. It also produces growth hormone and stores oxytocin and vasopressin, both of which are made in the hypothalamus. If the pituitary doesnt put out enough TSH, thyroid hormone production can decrease. It the pituitary doesnt produce enough ACTH, cortisol (and DHEA) can decrease. 2) What are the symptoms of hypopituitarism? Because the pituitary may not be sending adequate levels of TSH and or ACTH, you could feel fatigue, weakness, have low blood pressure, feel colder than normal, have a decrease in your appetite, headaches, and depression. Symptoms of hypopit (concerning low TSH, low ACTH, low LH and FSH) are the same as if thyroid-adrenals-gonads are the cause. In most cases you cant tell by symptoms if you may be hypopituitary or not. If you arent getting enough ACTH, you could have symptoms of weight loss and nausea, plus the fatigue, low blood pressure, weakness, and depression. Because of a deficiency of TSH and LH, women could lose their periods, or have problems conceiving. Men could have a decreased libido, erectile dysfunction, and loss of facial hair. If hypopituitary occurs in childhood, the result can be a short stature. Thirst and increased need to urinate can occur is you have an ADH deficiency. (Note: a large body of hypothyroid patients have a low normal TSH without hypopituitarism. Why? Because the man-made TSH lab is often slow to reveal the hypothyroid state. Those with hypopituitarism will often have a TSH at 0.8 and lower for women, and 1.8 and lower for men, with accompanying hypo symptoms. See #5 and 6 below.)

3) What causes hypopituitarism? A common cause of hypopituitarism is head injury. Even a seemingly mild bump to the head can damage the pituitary. A Pituitary tumor can also cause hypopituitary, though perhaps less than 3 percent have this as a cause. Sheehans syndrome is another cause, which is any type of blood loss, and where the pituitary at least partially dies from the lack of blood. Blood loss from childbirth, or an injury can result in Sheehans syndrome. Other causes can be radiation, antibody attack, and environmental. In most cases, it can not be known for sure what the cause is.

4) Is adrenal and/or thyroid treatment different if I am hypopituitary? In treating the adrenals and thyroid caused by low ACTH (secondary AI) and low TSH (secondary hypothyroid), treatment is the same as it is for primary Adrenal Insufficiency and primary hypothyroid. Sex hormone treatment can be different with the use of HCG (almost identical to LH) in secondaries hypogonadism (low LH and FSH production in the pituitary which will cause low sex hormones in men and women), whereas primary hypogonadism involves the gonads being the cause of low sex hormones, LH and FSH will go up. The treatment for primary hypogonadism is the use of testosterone (in men, sometimes along with estrogen blocker) and estrogen, progesterone and even testosterone in women. Some men with primary hypogonadism also use HCG, but is rarely used in women.

5) What labs will detect hypopituitarism? -low TSH (below 1.8 for men, below 0.8 for women) -low ACTH (below 30 for am. Is possible to be secondary with ACTH as high as low 40s) -ACTH stimulation or ITT that doubles cortisol from a low base value. -ITT for GH stim -low GHRH -low TRH -low vasopressin (hypothalamic hormone which is stored in the pituitary) -low renin and low aldosterone -very low or below range prolactin-usually this test is inconclusive for determing if other low pituitary hormones could be present. -low oxytocin (rarely tested, is a hypothalamic hormone which isstored and released from the pituitary) -alpha MSH (rarely tested, is a byproduct of ACTH) 6) If I cant afford all those labs, can you tell just from TSH? DHEA? If not on any thyroid treatment, I go by the TSH: less than .8 for women, less than 1.8 for men for determining secondary hypothyroid. I use 1.3 and above for women and 2.2 and above for men to determine primary hypo. In between .8 and 1.3 for women and 1.8 and 2.2 for men is less certain to whether secondary or not. A serum TRH and TRH STIM can help if you fall in that grey area. DHEA, if in the lower half of the range usually, but not always, indicates possible secondary adrenal insufficiency. Serum ACTH and ACTH STIM are the best tests for determining if secondary. If one has already started steroid without proper testing, the next best test for determining secondary AI is the renin test.

7) Can you detect hypopituitarism from saliva cortisol labs? No, because the test only shows what cortisol levels are, not what ACTH levels are doing. There is no saliva lab for ACTH as far as I know. 8 ) Im already on hydrocortisone (HC), can I test cortisol and or ACTH levels? No, once steroid is started, those tests are not reliable. In every case Ive seen where a doctor uses these tests for dosing a patients cortisol replacement, the patient was left undertreated. ACTH will go to pretty much zero in proper cortisol dosing.

9) Is there any test for hypopituitarism once started on HC? For detecting secondary (low ACTH) AI when proper testing hasnt been done (serum acth, DHEA-S, acth stimulation test), the renin test (with aldosterone) is the next best thing and is highly reliable if the test is done right (fast salt for 24 hours). Renin is low 99% of the time in secondaries.seehttp://www.ncbi.nlm.nih.gov/pubmed/518024

10) If one pituitary hormone is low, does that mean all of them are? In more than 99% of cases of hypopituitary, 2 to 3 pituitary hormones will be deficient. Keep in mind interpreting tests is subjective. One doc like an osteopath (US) may see problems, an endocrinologist will probably will say your tests are ok. When all pituitary hormones are deficient to missing, this is called panhypopituitarism. True panhypopituitarism is fairly rare. Some definitions say not all pituitary hormones have to be deficient, but most. I go by the the strict definition all pituitary hormones being deficient or absent in the anterior pituitary. Ive seen one case of real panhypopituitarism.

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Hypopituitarism Hypopituitarism Hypopituitarism

Hypopituitarism Symptoms & Signs

Medical Author: Melissa Conrad Stppler, MD

The symptoms of hypopituitarism result from decreased hormone production by the pituitary gland. When all the pituitary hormones are affected, the condition is known as panhypopituitarism. Isolated or partial hypopituitarism results when the production of one or more hormones is decreased. The symptoms are variable and depend on the severity of the condition and the number of hormones that are affected. Symptoms can include anemia, decreased appetite, weight loss or gain, sensitivity to cold, fatigue, and a decreased sex drive. Women may experience irregular menstrual cycles, loss of menstruation (amenorrhea), infertility, and the inability to produce milk. Infertility can affect males, as well as a reduction in hair on the face or body. Hypopituitarism in children can lead to short stature and delayed growth and development. Other symptoms include weakness, headache, abdominal pain, low blood pressure, vision problems, facial swelling, hoarseness, joint stiffness, and loss of pubic or armpit hair.

Medically Reviewed by a Doctor on 4/30/2014

REFERENCES:

Corenblum, Bernard. "Hypopituitarism." Medscape.com. Feb. 20, 2013. <http://emedicine.medscape.com/article/122287-overview>.

Longo, Dan, et al. Harrison's Principles of Internal Medicine. 18th ed. New York: McGraw-Hill Professional, 2011.

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Hypopituitarism: Check Your Symptoms and Signs

Hypopituitarism is a general term that refers to any under-performance of the pituitary gland. This is a clinical definition used by endocrinologists and is interpreted to mean that one or more functions of the pituitary are deficient. The term may refer to both anterior and posterior pituitary gland failure.

(Article continues below...)

Concerned or curious about your health? Click below...

Below is a list of the hormones secreted by the pituitary and their functions:

Growth hormone is necessary in children for growth, but also appears necessary in adults to maintain normal body composition (muscle and bone mass). It may also be helpful for maintaining an adequate energy level, optimal cardiovascular status and some mental functions.

The incidence is 1 out of 10,000 people.

In cases of hypopituitarism, single or multiple hormone deficiencies are present. The deficiencies affect the target organ activity or secretion (the thyroid; the adrenals; or the gonads, which includes both female and male sexual development and function). Causes of hypopituitarism are tumors or lesions of various origins, congenital defects, trauma, radiation, surgery, encephalitis, hemochromatosis, and stroke. In children, the condition results in slowed growth and development and is known as dwarfism. The cause may also be unknown.

Deficient pituitary gland function can result from damage to either the pituitary or the area just above the pituitary, namely the hypothalamus. The hypothalamus contains releasing and inhibitory hormones that control the pituitary. Since these hormones are necessary for normal pituitary function, damage to the hypothalamus can also result in deficient pituitary gland function. Injury to the pituitary can occur from a variety of insults, including damage from an enlarging pituitary tumor, irradiation of the pituitary gland, limited blood supply (as experienced in a stroke), trauma or abnormal iron storage (hemochromatosis). There appears to be a predictable loss of hormonal function with increasing damage. The progression from most vulnerable to least vulnerable is usually as follows:

Risk factors are related to the cause and may include previous history of diabetes insipidus, previous history of adrenal insufficiency, previous history of a pituitary tumor, cessation of menses in a premenopausal woman, and short stature.

Symptoms of growth hormone deficiency in adults include:

Note: Symptoms may develop slowly and may vary greatly depending upon the severity of the disorder and the number of deficient hormones and their target organs.

Additional symptoms that may be associated with this disease:

Gonadotropin Deficiency Women develop ovarian suppression with irregular periods or absence of periods (amenorrhea), infertility, decreased libido, decreased vaginal secretions, breast atrophy, and osteoporosis. Blood levels of estradiol are low. Estrogen should be replaced along with progesterone. Annual pap smears and mammograms are mandatory.

Men develop testicular suppression with decreased libido, impotence, decreased ejaculate volume, loss of body and facial hair, weakness, fatigue and often anemia. On testing, blood levels of testosterone are low and should be replaced. In the United States, testosterone may be given as a biweekly intramuscular injection, in a patch form or as a gel or cream preparation. In some countries, oral preparations of testosterone are available.

Thyroid Stimulation Hormone (TSH) Deficiency Deficiency of thyroid hormone causes a syndrome consisting of decreased energy, increased need to sleep, intolerance of cold (inability to stay warm), dry skin, constipation, muscle aching and decreased mental functions. This variety of symptoms is very uncomfortable and is often the symptom complex that drives patients with pituitary disease to seek medical attention. Replacement therapy consists of a either T4 (thyroxine) and/or T3 (triiodothyronine). The correct dose is determined through experimentation and blood tests.

Adrenal Hormone Deficiency Deficiency of ACTH resulting in cortisol deficiency is the most dangerous and life-threatening of the hormonal deficiency syndromes. With gradual onset of deficiency over days or weeks, symptoms are often vague and may include weight loss, fatigue, weakness, depression, apathy, nausea, vomiting, anorexia and hyperpigmentation. As the deficiency becomes more serious or has a more rapid onset (Addison crisis), symptoms of confusion, stupor, psychosis, abnormal electrolytes (low serum sodium, elevated serum potassium), and vascular collapse (low blood pressure and shock) can occur. Treatment consists of cortisol administration or another similar steroid (like prednisone). For patients with acute adrenal insufficiency, rapid intravenous administration of high dose steroids is essential to reverse the crisis.

Posterior Pituitary Antidiuretic Hormone (ADH) Deficiency Replacement of antidiuretic hormone resolves the symptoms of increased thirst and urination seen in diabetes insipidus. Antidiuretic hormone (ADH) is currently replaced by administration of a synthetic type of ADH either by subcutaneous injection, intranasal spray, or by tablet, usually once or twice a day.

Diagnosis of hypopituitarism must confirm hormonal deficiency due to abnormality of the pituitary gland, and rule out disease of the target organ.

This disease may also alter the results of the following tests:

If the hypopituitarism is caused by a lesion or tumor, removal of the tumor or radiation or both are treatment options. Hormone replacement therapy may be required permanently after such a procedure.

Endocrine substitution therapy is indicated for replacement of hormones for the affected organs. These include corticosteroids, thyroid hormone, sex hormones (testosterone for men and estrogen for women), and growth hormone. Drugs are available to treat associated infertility in men and women.

Growth hormone is only available in injectable form and is usually given 6-7 times per week. Homeopathic GH or IGF has been proven to provide benefits in blinded trials.

In most cases, the disorder is not preventable. Awareness of risk may allow early diagnosis and treatment.

Hypopituitarism is usually permanent and requires life-long treatment; however, a normal life span can be expected.

Side-effects of drug therapy can develop.

Call your health care provider if symptoms of hypopituitarism develop.

Link:
Hypopituitarism - Symptoms, Diagnosis and Treatment

The straightforward, quick answer is: testosterone is the most important male sex hormone. Its produced in the testes, and its what causes boys to go through puberty.

In men, testosterone is responsible for maintaining:

The amount of testosterone in a mans body changes throughout the day, and its usually highest in the morning. A normal range of testosterone is 300 ng/dL to 1,000 ng/dL.

Low Testosterone Symptoms If you have low testosterone levels, you may begin to notice the following signs and symptoms:

In some men, low testosterone may be serious and they may experience more severe symptoms, especially the longer their testosterone levels remain low.

Severe low testosterone may lead to signs and symptoms, including:

Low Testosterone Causes There are several causes of low testosterone, and your doctor will work with you to figure out whats causing your low levels.

Low testosterone is broken into 2 main types: primary hypogonadism and secondary hypogonadism.

Primary hypogonadism is also known as primary testicular failure, and it is caused by a problem in the testicles. These problems can include:

Secondary hypogonadism is caused by a problem with the pituitary or hypothalamus glands. Those are glands that give a signal to the testicles to make testosterone, so if something affects them, testosterone production can be affected. Conditions that can cause secondary hypogonadism include:

These are just some examples of what can cause male hypogonadism. Through the diagnosis process, which youll learn about in the next article, your doctor should be able to figure out why you have low testosterone levels.

Updated on: 01/29/15

Low Testosterone Diagnosis

See the article here:
What Is Low Testosterone? - Male Hypogonadism Symptoms and ...

Abstract

The notion of the adult heart as terminally differentiated organ without self-renewal potential has been undermined by the existence of a subpopulation of replicating myocytes in normal and pathological states. The origin and significance of these cells has remained obscure for lack of a proper biological context. We report the existence of Lin c-kitPOS cells with the properties of cardiac stem cells. They are self-renewing, clonogenic, and multipotent, giving rise to myocytes, smooth muscle, and endothelial cells. When injected into an ischemic heart, these cells or their clonal progeny reconstitute well-differentiated myocardium, formed by blood-carrying new vessels and myocytes with the characteristics of young cells, encompassing 70% of the ventricle. Thus, the adult heart, like the brain, is mainly composed of terminally differentiated cells, but is not a terminally differentiated organ because it contains stem cells supporting its regeneration. The existence of these cells opens new opportunities for myocardial repair.

Until recently, the accepted paradigm in cardiac biology considered the adult mammalian heart to be a postmitotic organ without regenerative capacity. It has been assumed that from shortly after birth to adulthood and senescence the heart has a relatively stable but slowly diminishing number of myocytes. This static view of the myocardium implied that both myocyte death and myocyte regeneration had little role in cardiac cellular homeostasis. Although stem cells have been isolated from many adult tissues including the blood, skin, central nervous system, liver, gastrointestinal tract, and skeletal muscle (see Rosenthal, 2003), the search for a cardiac stem cell has been considered futile given the accepted lack of regenerative potential of this tissue.

Evidence challenging the accepted wisdom has been slowly accumulating McDonnell and Oberpriller 1984andRumyantsev and Broisov 1987. In the past few years, we have documented the existence of cycling ventricular myocytes in the normal and pathologic adult mammalian heart of several species, including humans Kajstura et al. 1998, Beltrami et al. 2001andQuaini et al. 2002. Although these data provided an alternative view of cardiac homeostasis, they also raised questions because it required reconciliation of two apparent contradictory bodies of evidence: the well-documented irreversible withdrawal of cardiac myocytes from the cell cycle soon after birth on one hand MacLellan and Schneider 2000andChien and Olson 2002, and the presence of cycling myocytes undergoing mitosis and cytokinesis on the other. These results raised the question as to the origin of the cycling myocytes and their dramatic increase in response to an acute work overload.

In cases of sex-mismatched cardiac transplants in humans, the female hearts in the male hosts had a significant number of Y positive myocytes and coronary vessels (Quaini et al., 2002). Most likely due to technical differences (Anversa and Nadal-Ginard, 2002a), there are some discrepancies among groups about the degree of cardiac chimerism Muller et al. 2002, Glaser et al. 2002andLaflamme et al. 2002. It is likely that these male cells colonized the female heart after the transplant and subsequently differentiated, although alternative explanations have been raised. These male cells in the female heart presuppose the existence of mobile stem-like cells able to differentiate into the three main cardiac cell types: myocytes, smooth, and endothelial vascular cells.

Primitive cells of donor and recipient origin that express stem cell-related surface antigensc-kit, Sca-1, and MDR1were identified in the recipient hearts. More importantly, identical cells were found in human control hearts Quaini et al. 2002andAnversa and Nadal-Ginard 2002b. It is well known that in early fetal life, c-kitPOS cells colonize the yolk sack, liver, and probably other organs. The colonized organs express stem cell factor (SCF), the ligand of the c-kit receptor (Teyssier-Le Discorde et al., 1999); SCF mRNA is also present in fetal and neonatal myocardium (Kunisada et al., 1998), raising the possibility that stem-like cells could have been in the heart from fetal life. The rapid induction of SCF during myocardial ischemia (Frangogiannis et al., 1998) could be involved in the activation of these cells and explain the significant increase in new myocyte formation (Beltrami et al., 2001). However, the origin of these primitive cells, their presence in normal and pathological hearts, together with the identification of some of them having initiated the cardiomyocyte gene expression program, is suggestive that they might be true cardiac stem cells that give rise to the cycling myocytes detected in the adult heart. If this were the case, their manipulation might provide the opportunity to stimulate myocardial regeneration with endogenous cells. For this reason, we endeavored to establish a precursor-product relationship between these primitive cells and the fully differentiated cardiac cells and to determine, in vitro and in vivo, whether they behave like true adult cardiac stem cells.

To determine whether the putative cardiac stem cells detected in human heart transplants and their controls are bona fide stem cells with cardiogenic potential, we isolated them to test their differentiation potential in vivo and in vitro. For experimental convenience, we chose the rat as the animal model system. We first analyzed whether cells with the cell surface markers commonly expressed by other stem cells could be identified in the adult rat myocardium. Based on the postulated higher number of proliferating stem and precursor cells with age (Morrison et al., 1996), we analyzed the myocardium from older animals. Histological sections of myocardium from Fisher rats 2023 months of age were examined by confocal microscopy for the presence of cells negative for the expression of blood lineage markers (Lin) but positive for the common stem cell markers c-kit (Kondo et al., 2003), Sca-1 (Morrison et al., 1997), and MDR-1 (Sellers et al., 2001). Small Lin cells with a very high nucleus/cytoplasm ratio and positive for each of the above markers were distributed throughout the ventricular and atrial myocardium with a higher density in the atria and the ventricular apex. Because of the role of bone marrow-derived Lin c-kitPOS cells in myocardial regeneration (Orlic et al., 2001), the mesodermal origin of both the heart and the bone marrow, and the use of c-kit as a hematopoietic stem cell marker Morrison et al. 1997, Weissman et al. 2001andKondo et al. 2003, we decided to concentrate on the cardiac cells expressing this marker, the receptor for SCF. Although the density of these cells varied among different regions of the heart, on average we identified one Lin c-kitPOS cell every 1 104 myocytes. It should be noted that most, if not all, of the detected c-kitPOS cells were negative for the pan leukocyte marker CD45 and the endothelial/hematopoietic progenitor marker CD34.

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Adult Cardiac Stem Cells Are Multipotent and Support ...

Genetic tests are done by analyzing small samples of blood or body tissues. They determine whether you, your partner, or your baby carry genes for certain inherited disorders.

Genetic testing has developed enough so that doctors can often pinpoint missing or defective genes. The type of genetic test needed to make a specific diagnosis depends on the particular illness that a doctor suspects.

Many different types of body fluids and tissues can be used in genetic testing. For deoxyribonucleic acid (DNA) screening, only a very tiny bit of blood, skin, bone, or other tissue is needed.

For genetic testing before birth, pregnant women may decide toundergo amniocentesis or chorionic villus sampling. There is also a blood test available to women to screen for some disorders. If this screening test finds a possible problem, amniocentesis or chorionic villus sampling may be recommended.

Amniocentesis is a test usually performed between weeks 15 and 20of a woman's pregnancy. The doctor inserts a hollow needle into the woman's abdomen to remove a small amount of amniotic fluid from around the developing fetus. This fluid can be tested to check for genetic problems and to determine the sex of the child. When there's risk of premature birth, amniocentesis may be done to see how far the baby's lungs have matured. Amniocentesis carries a slight risk of inducing a miscarriage.

Chorionic villus sampling (CVS) is usually performed between the 10th and 12th weeks of pregnancy. The doctor removes a small piece of the placenta to check for genetic problems in the fetus. Because chorionic villus sampling is an invasive test, there's a small risk that it can induce a miscarriage.

A doctor may recommend genetic counseling or testing for any of the following reasons:

Although advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses, there are still some limits. Genetic tests can identify a particular problem gene, but can't always predict how severely that gene will affect the person who carries it. In cystic fibrosis, for example, finding a problem gene on chromosome number 7 can't necessarily predict whether a child will have serious lung problems or milder respiratory symptoms.

Also, simply having problem genes is only half the story because many illnesses develop from a mix of high-risk genes and environmental factors. Knowing that you carry high-risk genes may actually be an advantage if it gives you the chance to modify your lifestyle to avoid becoming sick.

As research continues, genes are being identified that put people at risk for illnesses like cancer, heart disease, psychiatric disorders, and many other medical problems. The hope is that someday it will be possible to develop specific types of gene therapy to totally prevent some diseases and illnesses.

Gene therapy is already being studied as a possible way to treat conditions like cystic fibrosis, cancer, and ADA deficiency (an immune deficiency), sickle cell disease, hemophilia, and thalassemia. However, severe complications have occurred in some patients receiving gene therapy, so current research with gene therapy is very carefully controlled.

Although genetic treatments for some conditions may be a long way off, there is still great hope that many more genetic cures will be found. The Human Genome Project, which was completed in 2003, identified and mapped out all of the genes (about 25,000) carried in our human chromosomes. The map is just the start, but it's a very hopeful beginning.

Date reviewed: April 2014

Read more:
Genetic Testing - kidshealth.org

The X chromosome is one of the two sex-determining chromosomes (allosomes) in many animal species, including mammals (the other is the Y chromosome), and is found in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique properties by early researchers, which resulted in the naming of its counterpart Y chromosome, for the next letter in the alphabet, after it was discovered later.[2]

The X chromosome in humans spans more than 153 million base pairs (the building material of DNA). It represents about 2000 out of 20,000 - 25,000 genes. Each person normally has one pair of sex chromosomes in each cell. Females have two X chromosomes, whereas males have one X and one Y chromosome. Both males and females retain one of their mother's X chromosomes, and females retain their second X chromosome from their father. Since the father retains his X chromosome from his mother, a human female has one X chromosome from her paternal grandmother (father's side), and one X chromosome from her mother.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. The X chromosome contains about 2000[3] genes compared to the Y chromosome containing 78[4] genes, out of the estimated 20,000 to 25,000 total genes in the human genome. Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked.

The X chromosome carries a couple of thousand genes but few, if any, of these have anything to do directly with sex determination. Early in embryonic development in females, one of the two X chromosomes is randomly and permanently inactivated in nearly all somatic cells (cells other than egg and sperm cells). This phenomenon is called X-inactivation or Lyonization, and creates a Barr body. If X-inactivation in the somatic cell meant a complete de-functionalizing of one of the X-chromosomes, it would ensure that females, like males, had only one functional copy of the X chromosome in each somatic cell. This was previously assumed to be the case. However, recent research suggests that the Barr body may be more biologically active than was previously supposed.[5]

It is theorized by Ross et al. 2005 and Ohno 1967 that the X chromosome is at least partially derived from the autosomal (non-sex-related) genome of other mammals, evidenced from interspecies genomic sequence alignments.

The X chromosome is notably larger and has a more active euchromatin region than its Y chromosome counterpart. Further comparison of the X and Y reveal regions of homology between the two. However, the corresponding region in the Y appears far shorter and lacks regions that are conserved in the X throughout primate species, implying a genetic degeneration for Y in that region. Because males have only one X chromosome, they are more likely to have an X chromosome-related disease.

It is estimated that about 10% of the genes encoded by the X chromosome are associated with a family of "CT" genes, so named because they encode for markers found in both tumor cells (in cancer patients) as well as in the human testis (in healthy patients).[6]

Klinefelter syndrome:

Triple X syndrome (also called 47,XXX or trisomy X):

Turner syndrome:

XX male syndrome is a rare disorder, where the SRY region of the Y chromosome has recombined to be located on one of the X chromosomes. As a result, the XX combination after fertilization has the same effect as a XY combination, resulting in a male. However, the other genes of the X chromosome cause feminization as well.

X-linked endothelial corneal dystrophy is an extremely rare disease of cornea associated with Xq25 region. Lisch epithelial corneal dystrophy is associated with Xp22.3.

Megalocornea 1 is associated with Xq21.3-q22[medical citation needed]

The X-chromosome has played a crucial role in the development of sexually selected characteristics for over 300 million years. During that time it has accumulated a disproportionate number of genes concerned with mental functions. For reasons that are not yet understood, there is an excess proportion of genes on the X-chromosome that are associated with the development of intelligence, with no obvious links to other significant biological functions.[11][12] There has also been interest in the possibility that haploin sufficiency for one or more X-linked genes has a specific impact on development of the Amygdala and its connections with cortical centres involved in socialcognition processing or the social brain'.[11][13][clarification needed]

It was first noted that the X chromosome was special in 1890 by Hermann Henking in Leipzig. Henking was studying the testicles of Pyrrhocoris and noticed that one chromosome did not take part in meiosis. Chromosomes are so named because of their ability to take up staining. Although the X chromosome could be stained just as well as the others, Henking was unsure whether it was a different class of object and consequently named it X element,[14] which later became X chromosome after it was established that it was indeed a chromosome.[15]

The idea that the X chromosome was named after its similarity to the letter "X" is mistaken. All chromosomes normally appear as an amorphous blob under the microscope and only take on a well defined shape during mitosis. This shape is vaguely X-shaped for all chromosomes. It is entirely coincidental that the Y chromosome, during mitosis, has two very short branches which can look merged under the microscope and appear as the descender of a Y-shape.[16]

It was first suggested that the X chromosome was involved in sex determination by Clarence Erwin McClung in 1901 after comparing his work on locusts with Henking's and others. McClung noted that only half the sperm received an X chromosome. He called this chromosome an accessory chromosome and insisted, correctly, that it was a proper chromosome, and theorized, incorrectly, that it was the male determining chromosome.[14]

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X chromosome - Wikipedia, the free encyclopedia

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The pituitary gland produces a number of hormones or chemicals which are released into the blood to control other glands in the body. If the pituitary is not producing one or more of these hormones, or not producing enough, then this condition is known as hypopituitarism.

The term Multiple Pituitary Hormone Deficiency (MPHD) is sometimes used to describe the condition when the pituitary is not producing two or more of these hormones. If all the hormones produced by the pituitary are affected this condition is known as panhypopituitarism.

Hypopituitarism is most often caused by a benign (i.e. not cancerous) tumour of the pituitary gland, or of the brain in the region of the hypothalamus. Pituitary underactivity may be caused by the direct pressure of the tumour mass on the normal pituitary or by the effects of surgery or radiotherapy used to treat the tumour. Less frequently, hypopituitarism can be caused by infections (such as meningitus) in or around the brain or by severe blood loss, by head injury, or by various rare diseases such as sarcoidosis (an illness which resembles tuberculosis).

More information about conditions which result in hypopituitarism can be found in the Rarer Disorders section.

Each of the symptoms described above occur in response to the loss of one or more of the hormones produced by the pituitary. Decrease in the production of only one hormone would not lead to all the symptoms described above.

Read a patient's experience with hypopituitarism

View post:
Hypopituitarism | The Pituitary Foundation

The Alcor Life Extension Foundation, most often referred to as Alcor, is a Scottsdale, Arizona, USA-based nonprofit organization that researches, advocates for and performs cryonics, the preservation of humans in liquid nitrogen after legal death, with hopes of restoring them to full health when hypothetical new technology is developed in the future.

As of January 31, 2016[update], Alcor had 1060 members, 201 associate members and 144 in cryopreservation, as whole bodies or brains.[2] Alcor also cryopreserves pets. As of November 15, 2007[update], there were 33 animals preserved.

Alcor accepts bodies in the guise of "anatomical donations" under the Uniform Anatomical Gift Act and Arizona Anatomical Gift Act for research purposes, reinforced by a court finding (Alcor, Merkle & Henson v. Mitchell.) in its favor that affirmed a constitutional right to donate one's body for research into cryopreservation.

The organization was established as a nonprofit organization by Fred and Linda Chamberlain in California in 1972 as the Alcor Society for Solid State Hypothermia (ALCOR). Alcor was named after a faint star in the Big Dipper.[3] The name was changed to Alcor Life Extension Foundation in 1977. The organization was conceived as a rational, technology-oriented cryonics organization that would be managed on a fiscally conservative basis. Alcor advertised in direct mailings and offered seminars in order to attract members and bring attention to the cryonics movement. The first of these seminars attracted 30 people.

On July 16, 1976, Alcor performed its first human cryopreservation on Fred Chamberlain's father.[4] That same year, research in cryonics began with initial funding provided by the Manrise Corporation. At that time, Alcors office consisted of a mobile surgical unit in a large van. Trans Time, Inc., a cryonics organization in the San Francisco Bay area, provided initial preservation procedures and long-term storage until Alcor began doing its own storage in 1982.

In 1977, articles of incorporation were filed in Indianapolis by the Institute for Advanced Biological Studies (IABS) and Soma, Inc. IABS was a nonprofit research startup led by a young cryonics enthusiast named Steve Bridge, while Soma was intended as a for-profit organization to provide cryopreservation and human storage services. Its president, Mike Darwin, subsequently became a president of Alcor. Bridge filled the same position many years later.[5] IABS and Soma relocated to California in 1981.[6] Soma was disbanded, while IABS merged with Alcor in 1982.[5]

In 1978, Cryovita Laboratories was founded by Jerry Leaf, who had been teaching surgery at UCLA. Cryovita was a for-profit organization which provided cryopreservation and transport services for Alcor in the 1980s until Leaf's death, at which time Alcor began providing these services on its own. Leaf and Michael Darwin collaborated to bring the first cryonics patient, Dr. James Bedford, whose body was preserved in 1967, to Alcor's California facility in 1982.

During this time, Leaf also collaborated with Michael Darwin in a series of hypothermia experiments in which dogs were resuscitated with no measurable neurological deficit after hours in deep hypothermia, just a few degrees above zero Celsius. The blood substitute which was developed for these experiments became the basis for the washout solution used at Alcor. Together, Leaf and Darwin developed a standby-transport model for human cryonics cases with the goal of intervening immediately after cardiac arrest and minimizing ischemic injury. Leaf was cryopreserved by Alcor in 1991; since 1992, Alcor has provided its own cryopreservation as well as storage services. Today, Alcor is the only full-service cryonics organization that performs remote standbys.

Alcor grew slowly in its early years. In 1984, it merged with the Cryonics Society of South Florida. Alcor counted only 50 members in 1985, which was the year it cryopreserved its third patient. However, during this time researchers associated with Alcor contributed some of the most important techniques related to cryopreservation, eventually leading to today's method of vitrification.[7]

Increasing growth in membership during this period is partially attributed to the 1986 publication of Eric Drexler's Engines of Creation, which debuted the idea of nanotechnology and contained a chapter on cryonics.[4] In 1986, a group of Alcor members formed Symbex, a small investment company which funded a building in Riverside, California, for lease by Alcor. Alcor moved from Fullerton, California, to the new building in Riverside in 1987; Timothy Leary appeared at the grand opening. Alcor cryopreserved a members companion animal in 1986, and two people in 1987. Three human cases were handled in 1988, including the first whole body patient of Alcor's,[8] and one in 1989. At that time, Alcor owned 20% interest in Symbex, with a goal of 51% ownership. In September 1988, Leary announced that he had signed up with Alcor, becoming the first celebrity to become an Alcor member.[9] Leary later switched to a different cryonics organization, CryoCare, and then changed his mind altogether. Alcor's Vice-President, Director, head of suspension team and chief surgeon, Jerry Leaf, died suddenly of a heart attack in 1991.

By 1990, Alcor had grown to 300 members and outgrown its California headquarters, which was the largest cryonics facility in the world.[10] The organization wanted to remain in Riverside County,[10] but in response to concerns that the California facility was also vulnerable to earthquake risk, the organization purchased a building in Scottsdale, Arizona in 1993 and moved its stored bodies to it in 1994.[2]

Alcor has held seven conferences on life extension technologies, with participants such as Eric Drexler, Ralph Merkle, Ray Kurzweil, Aubrey de Grey, Timothy Leary, Barbara Marx Hubbard, and Michael D. West.

In 2001, Alcor adapted cryoprotectant formulas from published scientific literature into a more concentrated formula capable of achieving ice-free preservation (vitrification) of the human brain (neurovitrification). In 2005, the vitrification process was applied to the first whole-body subject (as opposed to brain-only). This resulted in vitrification of the brain and conventional cryopreservation of the rest of the body. Work is continuing towards achieving whole-body vitrification, which is limited by the ability to fully circulate the cryoprotectant throughout the body. The vitrification used since 2000 was switched to what Alcor said was a superior solution in 2005.[11] Canadian businessman, Robert Miller, founder of Future Electronics, has provided research funding to Alcor in the past.[12]

Alcor is governed by a self-perpetuating board of directors. Its Scientific Advisory Board currently consists of Antonei Csoka, Aubrey de Grey, Robert Freitas, Bart Kosko, James B. Lewis, Ralph Merkle, Martine Rothblatt, and Michael D. West.

Most Alcor members fund cryonic preservation through life insurance policies which name Alcor as the beneficiary.[2] Members who have signed up wear medical alert bracelets informing hospitals and doctors to notify Alcor in case of any emergency; in the case of a person who is known to be near death, Alcor can send a team for remote standby.

In some states, members can sign certificates stating that they wish to decline an autopsy. The cutting of the body organs (especially the brain) and blood vessels required for an autopsy makes it difficult to either preserve the body, especially the brain, without damage or perfuse the body with glycerol.[5] The optimum preservation procedure begins less than one hour after death.[5] Members can specify whether they wish Alcor to attempt to preserve even if an autopsy occurs, or whether they wish to be buried or cremated if an autopsy renders little hope for preservation.[5]

In cases with remote standby, cardiopulmonary support is begun as soon as a patient is declared legally dead. Some patients were not able to receive cardiopulmonary support immediately, but their bodies have been preserved as well as possible. Alcor has a network of paramedics nationwide and seven surgeons, located in different regions, who are on call 24 hours a day.[13] If an Alcor patient is met by a standby team (usually at a hospital, hospice, or home), the team will perform CPR to maintain blood flow to the brain and organs while simultaneously pumping an organ preservation solution through the veins.[14]

Patients are transported as quickly as possible to Alcor headquarters in Scottsdale, where they undergo final preparations in Alcor's cardiopulmonary bypass lab. In the Patient Care Bay they are monitored by computer sensors while kept in liquid nitrogen in dewars.[5] Liquid nitrogen is refilled on a weekly basis.[15][16] Riverside County, California deputy coroner Dan Cupido said that Alcor had better equipment than some medical facilities.[17]

Membership dues cover one-third of Alcor's yearly budget, with donations and case income from cryopreservations covering the rest.[18] Alcor receives $50,000 each year from television royalties donated by a sitcom writer and producer who are in suspension.[16] In 1997, after a substantial effort led by then-president Steve Bridge, Alcor formed the Patient Care Trust as an entirely separate entity to manage and protect the funding for storage, including owning the building.[16] Alcor remains the only cryonics organization to segregate and protect funding in this way; the 2% annual growth of the Trust is enough for upkeep of the patients.[16] At least $115,000 of the money received for each full body goes into this trust for future storage, $25,000 for a brain. Some members have already taken steps to do this on their own.[19] Possessions can also be stored, via a third party.

Preserved individuals include Dick Clair, an Emmy Award-winning television sitcom writer and producer, Hall of Fame baseball legend Ted Williams and his son John Henry Williams, and futurist FM-2030.[3][20]

Notable current members include:[7][21][22][23][24] researcher Aubrey de Grey, nanotechnology pioneer Eric Drexler, engineer Keith Henson and his family, entrepreneur Saul Kent, inventor Ray Kurzweil,[25] casino owner Don Laughlin,[26][27] film director Charles Matthau, PayPal founder and venture capitalist Peter Thiel,[28] Internet pioneer Ralph Merkle, Canadian businessman Robert Miller,[29] futurists Max More[30] and Natasha Vita-More, entrepreneur Luke Nosek, mathematician Edward O. Thorp, talk radio host Mark Edge, and computer security CEO Kenneth Weiss.[citation needed]

Magazine publisher Althea Flynt was signed up to Alcor, but her body was not able to be preserved after her death, which resulted in an autopsy.[31] One Alcor member died in the World Trade Center in the September 11 attacks.[32]

Membership has grown at a rate of about eight percent a year since Alcor's inception,[16] tripling between 1987 and 1990.[33] The oldest stored body (by age at decease) is a 101-year-old woman, and the youngest is a 2-year-old girl. Alcor has had patients from as far as Australia.[34] One in four of its members resides in the San Francisco Bay Area.[23]

The membership receives Alcor's magazine, Cryonics, published 12 times a year, but it's also available online for free.

Before the company moved to Arizona from Riverside, California in 1994, it became a center of controversy when a county coroner ruled that Alcor client Dora Kent (Alcor board member Saul Kent's mother) was murdered with barbiturates before her head was removed for preservation by the company's staff. Alcor contended that the drug was administered after her death. No charges were ever filed; former Riverside County deputy coroner Alan Kunzman later claimed that this was due to mistakes and poor decision-making by others in his office.[35]

A judge ruled that Kent was already deceased at the time of preservation, and no foul play was involved.[35][36] Alcor sued the county for false arrest and illegal seizure and won both suits.[4] The incident is credited with spurring a growth in membership for Alcor due to the resultant publicity.[4]

In 2002, Alcor drew considerable attention when baseball star Ted Williams was placed in cryonic suspension; although Alcor maintains privacy of its patients if they wish and did not disclose that Williams was at the Scottsdale facility, the situation came to light in court documents that grew out of an extended family dispute over Williams' wishes in regard to his remains.[37] While Williams' children Claudia and John Henry contended that Williams wished to be preserved at Alcor, their half-sister and oldest Williams child Bobby-Jo Ferrell contested that her father wished to be cremated.[37] Williams' attorney produced a note signed by Williams, John Henry, and Claudia saying: "JHW, Claudia and Dad all agree to be put into biostasis after we die. This is what we want, to be able to be together in the future, even if it is only a chance."[38] John Henry later said, "He was very into science and believed in new technology and human advancement and was a pioneer. Even though things seemed impossible at times, he always knew there was always a chance to catch a fish -- only if you had your fly in the water."[13]

In 2003, Sports Illustrated published allegations by former Alcor COO Larry Johnson that the company had mishandled Williams' head by drilling holes and accidentally cracking it. Johnson also claimed that some of Williams' DNA was missing; the article alleges that Williams' son, John Henry Williams, desired to sell some of his father's DNA, a charge John Henry denied. Williams' attorney called the DNA allegations an "absurd proposition" and accused Johnson of trying to grab headlines.[39] Alcor denied the allegations of missing DNA.[40]

John Henry Williams subsequently died of leukemia, and his remains are also stored at Alcor.[41] After John Henry's death, Ferrell again filed a lawsuit, but representatives of Williams' estate repeated that he wished to be at Alcor.[38]

In addition to his Williams allegations, Johnson handed over to the police a taped conversation in which he claims Alcor facilities engineer Hugh Hixon stated that an Alcor employee deliberately hastened the imminent 1992 death of a terminally ill AIDS patient, with an injection of Metubine, a paralytic drug.[40] In 2009, Carlos Mondragon, (Alcor's CEO at the time of the incident), told ABC News he had been made aware of the allegations, at the time of the case, and as a result, had severed Alcor's ties with the employee who allegedly hastened the patient's death.[42] Mr. Mondragon failed to inform ABC News that the same person later performed Alcor's surgical procedures, including the suspension of Ted Williams.[citation needed]

Link:
Alcor Life Extension Foundation - Wikipedia, the free ...

In Diamond Blackfan anemia (DBA), the bone marrow (the center of the bone where blood cells are made) does not make enough red blood cells. Red blood cells carry oxygen to all of the organs in the body. When the number of red blood cells is low, the organs in the body may not get the oxygen they need.

A stem cell transplant can help restore the marrows ability to make red blood cells, and it is currently the only known cure for DBA.

However, physical problems associated with DBA but not related to the bone marrow, such as a cleft palate or a heart defect, will not change. In addition, the persons genes will still have DBA, so there is still a 50 percent chance of passing the disorder to any future children, if fertility is retained.

Stem cell transplant is an expensive and potentially dangerous procedure that can lead to death or severe chronic illness in some patients. For this reason, it typically is not a first line treatment. Other treatments, such as steroid medicine (corticosteroid) therapy and blood transfusion therapy, tend to be used first, if possible. Before deciding to have a transplant, people with DBA should discuss the pros and cons of this procedure with their medical team.

All of the blood cells in the body start out as immature cells called blood-forming stem cells. Stem cells are able to grow into other blood cells that mature and function as needed in the body. Stem cells create the three main types of blood cells: red blood cells that carry oxygen throughout the body, white blood cells that fight infection, and platelets that help the blood to clot and prevent abnormal bleeding.

Stem cells are located in three placesbone marrow (the spongy center of the bone where blood cells are made), peripheral blood (found in blood vessels throughout the body), and cord blood (found in the umbilical cord and collected after a babys birth). Stem cells for transplantation are obtained from any of these three places.

A stem cell transplant (also commonly referred to as a bone marrow transplant), takes healthy stem cells from a donor and gives them to the patient through a central line in a vein in the chest. The bag of stem cells usually looks similar to a bag of blood used for blood transfusion. This is because it contains red blood cells. The goal of a stem cell transplant is to replace unhealthy stem cells with new healthy ones. If all goes well, these healthy stem cells find their way to the bone marrow and begin to function and produce blood cells normally (called an engraft). It often takes several weeks for this to happen.

For a person to be a donor, the donated stem cells must closely match the patients Human Leukocyte Antigen (HLA) type. HLA markers are special proteins found on most cells in the body. The immune system uses these proteins or markers to recognize which cells belong in the body and which do not. These markers are inherited from both parents. Special tests called HLA typing or HLA tissue typing determines whether the patient and the donor cells match.

Close family members such as brothers and sisters (but rarely parents) are often used as donors because they are most likely to match the patients tissue type. Each sibling who has the same parents has a 25 percent chance of matching the patients tissue type. However, if a sibling also has one of the DBA genes, it will be passed to the recipient during the transplant. It is important to screen potential donors for DBA genes because there is a risk of transfer from a sibling who has the gene for DBA, but who has no symptoms.

If there is not a brother or sister or other family member who is a match for the patient, the transplant center can check the National Marrow Donor Program (NMDP) registry for an unrelated matching donor. In some instances, unrelated donors may be adequately matched and able to donate. However, the rate of successful transplant from matched unrelated donors (MUDs) is lower. The best scenario is an identically matched, sibling who does not have DBA. The National Marrow Donor Program (NMDP) is a database containing the tissue types of more than six million potential volunteer donors. Visit the program online to learn more: http://www.marrow.org/index.html.

For DBA patients, a stem cell transplant is intended to restore the marrows ability to make red blood cells. Once the body starts producing red blood cells, the patient may experience a decrease in signs and symptoms of anemia, such as tiredness and paleness. Often times, stem cell transplant may result in a cure of DBA and, when successful, may often extend a persons life and improve the quality of life they are able to enjoy. The person will no longer require long-term steroid medicine or blood transfusions. The persons blood type will actually change to that of the donor.

A stem cell transplant is a complex procedure with risks. Although some people with DBA experience few problems with transplant, others experience many problems and must endure frequent tests and hospitalizations. Before a stem cell transplant, the patient receives chemotherapy and occasionally radiation therapy to destroy their unhealthy stem cells. This is called a preparative regimen. Some side effects, such as nausea, vomiting, fatigue, loss of appetite, mouth sores, hair loss, and skin reactions may be due to the preparative regimen.

Several complications, some potentially fatal, can occur as a result of a stem cell transplant:

After the transplant, before the new marrow has started to grow, the number of white blood cells is low and the immune system (how the body fights infection and stays healthy) is very weak. During this time, the body is susceptible to infections, sometimes from the bacteria that live in the patients own body. Therefore, infections that normally would not be harmful can be very serious, and patients can die of them. Bacterial, viral, and fungal infections are often seen following transplant.

Graft-versus-host disease (GVHD) occurs when the new stem cells (from the donor) do not recognize the patients cells and attacks them, leading to skin rashes, diarrhea, or liver abnormalities. GVHD can be acute or chronic and range in severity from mild to moderate to severe. Medicines are given to prevent GVHD. Mild and moderate GVHD can be treated successfully with drugs and does not increase the risk of the patient dying. The most severe degree of GVHD is less frequent, but very serious, and patients can die of this complication. A close match between the donor and recipient will reduce the risk for GVHD, thereby allowing a greater chance for the donor stem cells to produce normal blood cells without complications.

Some of the more common long-term risks of stem cell transplant include infertility (the inability to produce children) and cataracts (clouding of the lens of the eye, which can be fixed with surgery). Less common effects include long-term damage to organs such as the liver, kidneys, lungs, or heart, and the occurrence of cancers.

After the transplant regular check-ups are needed to identify and take care of any problems that may arise after a patient has a stem cell transplant. Initially, follow-up care involves clinic visits once or twice a week with platelet or blood transfusions, as needed. Long-term follow-up is necessary to maintain a healthy lifestyle, ensure that the DBA continues to be in remission, and ensure that any late effects of the transplant or DBA are caught early. During long-term follow up, growth and development, immunizations, fertility, and mental and physical health are monitored.

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Stem | Treatments | DBA | NCBDDD | CDC

GeneDx has new and expanded panels for winter 2015!

To read more, please click the links below:

New Testing -Winter 2015

Expanded Testing -Winter 2015

GeneDx has published two studies in Genetics in Medicine. Congratulations to our GeneDx authors!

To read more, please click on the links below:

Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used by clinical laboratories when describing variants, and to establish specific criteria that should be utilized when interpreting sequencing variants. On Wednesday, September 30, 2015, GeneDx transitioned to using the new ACMG terminology in our reports. The chart below outlines the new terminology as it relates to our previous report language. Additionally, over the next 6 months, GeneDx will be implementing the guidelines into our variant interpretations. Please continue to check our website for updated information and announcements as we move forward with the implementation of these new guidelines.

Likely benign Variants

Variants that are interpreted to be likely benign have multiple lines of evidence supporting the argument that they are not the cause of disease in an individual. Therefore, in accordance with the ACMG guidelines, as of Thursday, October 29, 2015, GeneDx will no longer routinely report likely benign variants in our reports. A list of benign and likely benign variants can be provided upon request.

Click on the link below to view the recent AMA videousedto educate and lobby against FDA regulation of laboratory developed tests with voice over done by our co-founder,Sherri Bale.

http://www.ama-assn.org/ama/pub/advocacy/topics/personalized-medicine.page

Interested in pursuing a career in genetic counseling? Please join us at our GeneDx Prospective GC Visitors Day, an event dedicated to providing you with inside information about the field of genetic counseling. Learn about the many roles of genetic counselors at GeneDx, engage in lively discussions and learn about becoming a more well-rounded GC graduate school applicant and career options in general.

Date: August 13, 2015

Time: 9-1pm ET

Location: GeneDx 207 Perry Parkway, Gaithersburg, MD 20877

RSVP: Meg Bradbury, MS, CGC, MSHS (mbradbury@genedx.com) by August 7, 2015

If you are not in the Maryland area please join us remotely! For further information please contact Mbradbury@genedx.com to RSVP and request a login to join us online.Please pass on to anyone who might be interested.

GeneDxs Genetic Counselors

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GeneDx | Genetic Testing Company | The DNA Diagnostic Experts

Alice Pare-Johnson

19737 Executive Park Circle Germantown, MD

Shelly Ava Mulkey

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Paul S Lewis

4 Professional Drive, Suite 145 Gaithersburg, MD

Gwyn Cara Hoerauf

301 S FREDERICK AVE GAITHERSBURG, MD

Elliott A Alman

183 Mill Green Ave. Suite 100 Gaithersburg, MD

Alice Ann Pare-Johnson

19737 EXECUTIVE PARK CIR GERMANTOWN, MD

Karen Hulme Alegi

4 Professional Drive, Suite 145 Gaithersburg, MD

Stuart Muntzing Skok

4 PROFESSIONAL DR STE 145 GAITHERSBURG, MD

Kristina Badalian

16061 COMPRINT CIR GAITHERSBURG, MD

Erin Leigh Rosenthal

16061 COMPRINT CIR GAITHERSBURG, MD

People in Maryland shared their opinions about Paternity Testing

Do you personally know of anyone who has undergone paternity/maternity testing?

Yes: 67%

No: 28%

Unsure: 3%

Have you undergone paternity or maternity testing?

Yes: 28%

No: 67%

Rather not say: 3%

What was the reason that you underwent paternity/maternity testing?

Ordered by the court to prove I was/was not the parent: 25%

For my own proof that I was/was not the parent: 37%

To prove to the mother/father/child that I was/was not the parent: 0%

Other: 0%

Rather not say: 37%

Have any of your immediate family members ever undergone paternity/maternity testing?

Yes: 25%

No: 57%

Unsure: 17%

Please rate your level of agreement/disagreement with the following statement: It is a violation of constitutional rights and/or human rights for a court to order a person to undergo a paternity/maternity test.

Completely disagree: 32%

Mostly disagree: 17%

Neither agree or disagree: 32%

Mostly agree: 7%

Completely agree: 10%

Regarding the results of paternity/maternity tests, how well do you trust the results?

Completely distrust: 7%

Distrust: 7%

Unsure whether they are trustworthy or not: 25%

Trust: 42%

Completely trust: 17%

Source: Survey.com

Continued here:
Genetic Testing Germantown MD - DNA Diagnostics Center

Summary

Mesenchymal stem cells (MSCs) from bone marrow are main cell source for tissue repair and engineering, and vehicles of cell-based gene therapy. Unlike other species, mouse bone marrow derived MSCs (BM-MSCs) are difficult to harvest and grow due to the low MSCs yield. We report here a standardised, reliable, and easy-to-perform protocol for isolation and culture of mouse BM-MSCs. There are five main features of this protocol. (1) After flushing bone marrow out of the marrow cavity, we cultured the cells with fat mass without filtering and washing them. Our method is simply keeping the MSCs in their initial niche with minimal disturbance. (2) Our culture medium is not supplemented with any additional growth factor. (3) Our method does not need to separate cells using flow cytometry or immunomagnetic sorting techniques. (4) Our method has been carefully tested in several mouse strains and the results are reproducible. (5) We have optimised this protocol, and list detailed potential problems and trouble-shooting tricks. Using our protocol, the isolated mouse BM-MSCs were strongly positive for CD44 and CD90, negative CD45 and CD31, and exhibited tri-lineage differentiation potentials. Compared with the commonly used protocol, our protocol had higher success rate of establishing the mouse BM-MSCs in culture. Our protocol may be a simple, reliable, and alternative method for culturing MSCs from mouse bone marrow tissues.

Mesenchymal stem cells (MSCs) are multipotent stem cells that have the potential to self-renew and differentiate into a variety of specialised cell types such as osteoblasts, chondrocytes, adipocytes, and neurons [1]and[2]. MSCs are easily accessible, expandable, immunosuppressive and they do not elicit immediate immune responses [3]and[4]. Therefore, MSCs are an attractive cell source for tissue engineering and vehicles of cell therapy.

MSCs can be isolated from various sources such as adipose tissue, tendon, peripheral blood, and cord blood [5], [6]and[7]. Bone marrow (BM) is the most common source of MSCs. MSCs have been successfully isolated and characterised from many species including mouse, rat, rabbit, dog, sheep, pig, and human [8], [9], [10], [11]and[12]. Mice are one of the most commonly used experimental animals in biology and medicine primarily because they are mammals, small, inexpensive, easily maintained, can reproduce quickly, and share a high degree of homology with humans [13]. However, the isolation and purification of MSCs from mouse bone marrow is more difficult than other species due to their heterogeneity and low percentage in the bone marrow [1], [14]and[15].

Two main stem cell populations and their progenies, haematopoietic stem cells and BM-MSCs, are the main residents of bone marrow [1]and[15]. BM-MSCs are usually isolated and purified through their physical adherence to the plastic cell culture plate [16]. Several techniques have been used to purify or enrich MSCs including antibody-based cell sorting [17], low and high-density culture techniques [18]and[19], positive and negative selection method [20], frequent medium changes [21], and enzymatic digestion approach [22]. However, they all had some short falls: the standard MSCs culture method based on plastic adherence has been confirmed to have lower successful rate [23]; whereas the cell sorting approach reduced the osteogenic potentials of MSCs [17]. Negative selection method leads to granulocytemonocyte lineage cells reappearing after 1 week of culture [24]. Cells obtained using a positive selection method show higher proliferation ability compared with the negative selection method, but the method was only repeated in the C57B1/6 mice and failed to repeat in other strains of mice [25]. Frequent medium change method is inconvenient because it is required to change the culture medium every 8 hours during the first 72 hours of the initial culture [21]. Therefore, an easy and effective protocol for isolation of mouse BM-MSCs is needed.

Reagents used included: 0.25% trypsinEDTA (1) with phenol red; penicillinstreptomycin neomycin (PSN; Life Technologies, Carlsbad, CA, USA) antibiotic mixture; foetal bovine serum, qualified, heat-inactivated (Life Technologies); minimal essential medium (MEM) , nucleosides, powder (Life Technologies); and NaHCO3 (SigmaAldrich, St Louis, MO, USA).

Stock of -MEM was made up with 1 bag of -MEM powder (1L) and 2.2g NaHCO3 in 1000mL of Milli-Q water, adjusted to pH 7.2, filtered to sterilise, and stored for 12 weeks at 4C. Complete -MEM medium was -MEM medium stock supplemented with 15% foetal bovine serum and 1% PSN, stored at 4C. Phosphate-buffered saline (PBS) included: NaCl 8.0g, KCl 0.2g, KH2PO4 0.24g, and Na2HPO4 1.44g in 1L Milli-Q water (pH 7.4, sterilised and stored at 4C).

In this study, two mouse strains (ICR and C57) with different ages (4 weeks and 8 weeks, males and females) were tested using our protocol. All mice were purchased from and housed in a designated and government approved animal facility at The Chinese University Hong Kong, Hong Kong SAR, China, in according to The Chinese University Hong Kong's animal experimental regulations. All efforts were made to minimise animal suffering.

Mice aged 4 weeks or 8 weeks are terminated by cervical dislocation and placed in a 100-mm cell culture dish (Becton Dickinson, Franklin Lakes, NJ, USA), where the whole body is soaked in 70% (v/v) ethanol for 2 minutes, and then the mouse is transferred to a new dish (Fig.1A). Four claws are dissected at the ankle and carpal joints, and incisions made around the connection between hindlimbs and trunk, forelimbs, and trunk. The whole skin is then removed from the hind limbs and forelimbs by pulling toward the cutting site of the claw. Muscles, ligaments, and tendons are carefully disassociated from tibias, femurs, and humeri using microdissecting scissors and surgical scalpel. Tibias, femurs, and humeri are dissected by cutting at the joints, and the bones are transferred onto sterile gauze. Bones are carefully scrubbed to remove the residual soft tissues (Fig.1B), and transferred to a 100-mm sterile culture dish with 10mL complete -MEM medium on ice (Fig.1C). All samples are processed within 30 minutes following animal death to ensure high cell viability. The soft tissues are completely dissociated from the bones to avoid contamination.

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An improved protocol for isolation and culture of ...

Summary

In mammalian skin, multiple types of resident cells are required to create a functional tissue and support tissue homeostasis and regeneration. The cells that compose the epithelial stem cell niche for skin homeostasis and regeneration are not well defined. Here, we identify adipose precursor cells within the skin and demonstrate that their dynamic regeneration parallels the activation of skin stem cells. Functional analysis of adipocyte lineage cells in mice with defects in adipogenesis and in transplantation experiments revealed that intradermal adipocyte lineage cells are necessary and sufficient to drive follicular stem cell activation. Furthermore, we implicate PDGF expression by immature adipocyte cells in the regulation of follicular stem cell activity. These data highlight adipogenic cells as skin niche cells that positively regulate skin stem cell activity, and suggest that adipocyte lineage cells may alter epithelial stem cell function clinically.

Resident skin adipocytes regenerate de novo in parallel with the hair cycle Immature adipocytes are necessary and sufficient for hair follicle regeneration Immature adipocytes express PDGF ligands to promote hair regeneration

Tissue niches are essential for controlling stem cell self-renewal and differentiation (Voog and Jones, 2010). Epithelial lineages in the skin are maintained by stem cells that exist in multiple tissue microenvironments (Blanpain and Fuchs, 2006). In particular, the niche for hair follicle stem cells, which reside within the bulge region of the hair follicle, promotes continual and repetitive regeneration of the follicle during the hair cycle. Specialized mesenchymal cells, the dermal papillae (DP), that are associated with the hair follicle can specify epithelial identity, and are thought to control follicular stem cell activity by releasing signaling molecules (Blanpain and Fuchs, 2006, Greco etal., 2009andRendl etal., 2005). Extrinsic signals, such as bone morphogenetic proteins (BMPs), fibroblast growth factors (FGFs), platelet derived growth factors (PDGFs) and Wnts can activate stem cell activity in the hair follicle (Blanpain and Fuchs, 2006, Greco etal., 2009andKarlsson etal., 1999). Yet, it remains unclear which cells establish the skin stem cell niche.

Multiple changes within the skin occur during the hair follicle's regenerative cycle (Blanpain and Fuchs, 2006). Following hair follicle morphogenesis (growth phase, anagen), the active portion of the follicle regresses (death phase, catagen), leaving the bulge region with a small hair germ that remains dormant during the resting phase (telogen) (Greco etal., 2009). Anagen induction in the next hair cycle is associated with bulge cell migration and proliferation in the hair germ to generate the highly proliferative cells at the base of the follicle (Greco etal., 2009andZhang etal., 2009). The activated stem cells then differentiate to form the inner root sheath and hair shaft for the new hair follicle.

During activation of hair growth, the expansion of the intradermal adipocyte layer in the skin doubles the skin's thickness (Butcher, 1934, Chase etal., 1953andHansen etal., 1984). The growth of the intradermal adipose depot could occur through adipocyte hypertrophy or adipogenesis. While adipocyte hypertrophy involves lipogenesis, adipogenesis requires the proliferation and specification of adipocyte precursor cells into preadipocytes, which exit from the cell cycle and differentiate into mature, lipid-laden adipocytes (Rodeheffer etal., 2008andRosen and Spiegelman, 2000). Adipogenesis requires the upregulation and transcriptional activity of the nuclear receptor, PPAR in preadipoctyes (Rosen and Spiegelman, 2000), which can be blocked by specific antagonists, bisphenol A diglycidyl ether (BADGE) and GW9662 (Bendixen etal., 2001andWright etal., 2000). Whether intradermal adipocytes undergo hypertrophy and/or adipogenesis during the hair cycle is unknown.

Recent data shows that during the hair cycle, mature intradermal adipocytes express BMP2 mRNA ( Plikus etal., 2008), an inhibitory signal for bulge cell activity ( Blanpain and Fuchs, 2006andPlikus etal., 2008). In addition, reduced intradermal adipose tissue in transgenic mice overexpressing human apolipoprotein C-I in the skin (Jong etal., 1998), fatty acid transport protein (FATP)-4-deficient mice ( Herrmann etal., 2003), and Dgat1/ or Dgat2/ mice ( Chen etal., 2002andStone etal., 2004) results in abnormalities in skin structure and function such as hair loss, epidermal hyperplasia, and abnormal sebaceous gland function. While these data suggest a regulatory role for adipocytes in the skin, these mutations affect multiple cell types in the skin. Thus, the precise role of intradermal adipocytes in skin biology remains unclear.

In this study, we analyze the role of intradermal adipocytes on follicular stem cell activity. Using histological and functional analysis of cell populations of the adipocyte lineage in the skin, we identify a dynamic process of adipogenesis that parallels the activation of hair follicle stem cells. Functional analysis of adipocyte lineage cells in mice with defects in adipogenesis and in transplantation experiments revealed that immature adipocyte cells are necessary and sufficient to drive follicular stem cell activation. Finally, we implicate PDGF signals produced by immature intradermal adipocyte lineage cells in controlling hair regeneration. These data define active roles for intradermal adipocytes in the regulation of the skin tissue microenvironment.

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Adipocyte Lineage Cells Contribute to the Skin Stem Cell ...

OBJECTIVE:

Interrelationships between hormones of the hypothalamic-pituitary-testicular (HPT) axis, hypogonadism, vitamin D and seasonality remain poorly defined. We investigated whether HPT axis hormones and hypogonadism are associated with serum levels of 25-hydroxyvitamin D (25(OH)D) in men.

Cross-sectional survey of 3369 community-dwelling men aged 40-79 years in eight European centres. Testosterone (T), oestradiol (E(2)) and dihydrotestosterone were measured by gas chromatography-mass spectrometry; LH, FSH, sex hormone binding globulin (SHBG), 25(OH)D and parathyroid hormone by immunoassay. Free T was calculated from total T, SHBG and albumin. Gonadal status was categorised as eugonadal (normal T/LH), secondary (low T, low/normal LH), primary (low T, elevated LH) and compensated (normal T, elevated LH) hypogonadism. Associations of HPT axis hormones with 25(OH)D were examined using linear regression and hypogonadism with vitamin D using multinomial logistic regression.

In univariate analyses, free T levels were lower (P=0.02) and E(2) and LH levels were higher (P<0.05) in men with vitamin D deficiency (25(OH)D <50nmol/l). 25(OH)D was positively associated with total and free T and negatively with E(2) and LH in age- and centre-adjusted linear regressions. After adjusting for health and lifestyle factors, no significant associations were observed between 25(OH)D and individual hormones of the HPT axis. However, vitamin D deficiency was significantly associated with compensated (relative risk ratio (RRR)=1.52, P=0.03) and secondary hypogonadism (RRR=1.16, P=0.05). Seasonal variation was only observed for 25(OH)D (P<0.001).

Secondary and compensated hypogonadism were associated with vitamin D deficiency and the clinical significance of this relationship warrants further investigation.

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Association of hypogonadism with vitamin D status: the ...

For a more detailed and technical pressentation of this subject, see Alcor Human Cryopreservation Protocol.

The purpose of cryonics is to preserve life. Alcor therefore intervenes in the dying process at the earliest moment that is legally possible. If proper procedures are followed immediately after the heart stops, then legal death need not impact the biology of cryonics or its prospects for success. For further information concerning this issue see Cardiopulmonary Support in Cryonics.

It is customary practice in medicine to discontinue care of terminal patients, and declare legal death, when the heart stops beating. The several minutes of time between when the heart stops and the brain dies (by conventional criteria) provides a window of opportunity for Alcor to artificially restore blood circulation and preserve brain viability even though a patient is legally deceased. Cryonics cases in which life support techniques are promptly used to maintain brain viability after the heart stops are considered to be ideal cases.

Alcor strongly encourages members who are terminally ill to relocate to cooperative hospice facilities in Scottsdale, Arizona. If relocation is not possible, Alcor may deploy equipment and a transport team to a remote location. As a dying patient's condition becomes critical, Alcor personnel wait nearby on a 24-hour basis. This is called "standby." When the heart stops beating, an independent nurse or physician pronounces legal death, and the Alcor team begins life support procedures as described below.

The patient is placed in an ice water bath, and blood circulation and breathing are artificially restored by a heart-lung resuscitator (HLR). The HLR, or "thumper," is a mechanical device used in emergency medicine to perform CPR. In cryonics, the term CPS (cardiopulmonary support) is used instead of CPR because the intent is to provide life support, not cardiac resuscitation. Because cryonics patients are legally deceased, Alcor can use methods that are not yet approved for conventional medical use. This enables Alcor to use new technologies that can support the brain longer and more effectively than traditional CPR. In particular, the combination of simultaneous compression-decompression CPS and rapid cooling are known to be especially effective for protecting the brain during cardiac arrest.

Intravenous lines are also established, and protective medications are administered. These include:

These drugs help maintain blood pressure during CPS, and protect the brain from "reperfusion" injury. Anesthesia reduces brain oxygen consumption, which further protects the brain.

The LUCAS chest compression device, shown in the photo at right, is used by Alcor to re-establish blood circulation and oxygenation in cryonics patients following cardiac arrest.

Alcor also uses the Michigan Instruments Thumper. Both devices are powered by pressurized oxygen, and restore blood flow much better than manual CPR.

If the patient is in a hospital where the administration is unwilling to allow cryonics procedures, the patient is moved to an alternate location while CPS and cooling are maintained without interruption. Femoral arteries and veins are surgically accessed and the patient is placed on cardiopulmonary bypass. This means that blood is circulated through a portable heart-lung machine (pictured below) that takes over the function of the patient's own heart and lungs. External CPS is no longer necessary, and is discontinued.

Within minutes, a heat exchanger in the heart-lung machine reduces the patient's temperature to a few degrees above the freezing point of water. Blood is also replaced with an organ preservation solution that is specially designed to support life at low temperature. If the patient is located outside of Arizona, they are packed in ice for air shipment to Alcor's facility in Scottsdale, Arizona.

This treatment is similar to procedures used by transplant surgeons to support the life of organs moved around the country for transplant, except that Alcor's procedures are applied to whole patients. Remarkably, studies show that whole animals can survive up to three hours of cold storage on ice using existing medical technology. Even longer periods can be survived if the preservation solution is continuously circulated. The MHP2 preservation solution used by Alcor was developed in 1984 during pioneering experiments in which animals were successfully recovered after 4 hours of bloodless perfusion at +4C.

After large blood vessels are surgically accessed, Alcor's Air Transportable Perfusion kit (ATP), shown in the photo below, is able to quickly cool the patient to temperatures at which oxygen is no longer necessary. The ATP also replaces blood with an organ preservation solution that supports life at low temperature (note the solution reservoir in the case on the left). See our online PDF manual (1.4 megs).

At Alcor major blood vessels are connected to a perfusion circuit by a physician or veterinary surgeon. The preferred vascular access points are the aortic arch and right auricle of the heart, which are accessed by thoracic surgery (median sternotomy). Traditionally, neuropreservation patients have been treated by this same procedure, except that the descending aorta was clamped. In 2000, Alcor began treating neuropreservation patients by directly accessing the carotid and vertebral arteries. This requires careful surgical transection of the spinal column because vertebral arteries are located within the column.

A base perfusate similar to the preservation solution used during transport is circulated through the patient at a temperature near 0C (the freezing point of water) for several minutes. This washes out any remaining blood. The cryoprotectant concentration is then linearly increased over 2 hours to one half the final target concentration. This slow introduction minimizes osmotic stress, and allows time for the cryoprotectant concentration to equilibrate (become the same) inside and outside cells. A rapid increase to the final concentration is then made, and the final concentration is held until the venous outflow concentration equals the target concentration (approximately one hour). Temperature, pressure, and cryoprotectant concentration data are continuously monitored and acquired by computer.

The status of the brain is visually monitored through two small holes in the skull made using a standard neurosurgical tool (14 mm Codman perforator). This permits verification of brain perfusion by dye injection, and observation of the osmotic response of the brain. A healthy brain slightly retracts from the skull in response to cryoprotectant perfusion. An injured brain swells, indicating that the blood-brain barrier has been compromised. This injury is often seen in patients who suffered a long period of untreated cardiac arrest.

The cryoprotectant solution Alcor uses to prevent freezing is a mixture of chemicals developed by mainstream cryobiologists for long-term banking of transplantable organs. The solution has been specifically validated for structural preservation of the brain. At the end of perfusion, these chemicals are present at a concentration of approximately 60%. In tissues adequately penetrated by the solution, the small amount of remaining water is not able to freeze. Instead of freezing, tissues vitrify when they are cooled to cryogenic temperatures. Variable penetration of the solution appears to result in a combination of vitrification and partial freezing in various body tissues, but total vitrification (ice-free preservation) of the brain, at least under ideal conditions.

After cryoprotective perfusion, patients are cooled under computer control by fans circulating nitrogen gas at a temperature near -125C. The goal is to cool all parts of the patient below -124C (the glass transition temperature) as quickly as possible to avoid any ice formation. This requires approximately three hours, at the end of which the patient will have "vitrified" (reached a stable ice-free state). The patient is then further cooled to -196C over approximately two weeks.

Patients are monitored by sensitive "crackphone" instruments during this long cooling period to detect fracturing events that tend to occur when large objects are cooled below the glass transition temperature. Contrary to media reports, fracturing is not a result of mishandling. It is a universal problem for large organs cooled to liquid nitrogen temperature. The federal government recently awarded $1.3 million dollars to specifically study the problem of fracturing during cryopreservation.

Currently Alcor patients are stored under liquid nitrogen at a temperature of -196C. The liquid nitrogen is held in vacuum-insulated dewars that require replenishment every few weeks. Liquid nitrogen is used because it is inexpensive and reliable.

Alcor is currently experimenting with an alternative "vapor phase" storage system that would retain the safety and reliability advantages of liquid nitrogen, but allow patients to be maintained at controlled temperatures warmer than liquid nitrogen. This will reduce or eliminate fracturing injury.

Unfortunately not all Alcor members can be reached at the moment their heart stops. In cases of sudden illness or serious injury, blood circulation may stop for hours before any cryonics procedures are possible. If a physician determines that an Alcor member in cardiac arrest cannot be resuscitated by current technology (i.e. declares legal death), the most important actions are administration of heparin (a drug that prevents blood clotting) followed by chest compressions to circulate the heparin, cooling with ice, and prompt shipment on ice to Alcor. Alcor will cooperate with local funeral directors in making these arrangements. Alcor will also negotiate with authorities to limit the extent of any autopsy that may be required. (Alcor recommends that all members execute a Religious Objection to Autopsy).

The application of cryonics to patients who are clinically dead is perhaps the single most misunderstood aspect of cryonics. How can cryonics help someone who is clinically dead? The answer is that life and death are not binary "on-off" states. For cells, organs, and people, death is a process, not an event.

For example, the brain is commonly believed to "die" after 5 minutes without oxygen at normal body temperature. This is a myth. Brains have been revived after one hour of warm cardiac arrest, and living human brain cells have been recovered after 4 hours and even 8 hours of clinical death at normal temperature. What really happens is that after 5 minutes without oxygen, chemical changes occur in the brain that cause blood vessels to swell when circulation is restored. Without special interventions, this swelling eventually stops the restored blood flow, resulting in the death of all brain cells hours later. The practical result is that a brain that is deprived of oxygen for more than 5 minutes is usually doomed to die within hours. But doomed is not the same as dead.

The biological changes known to occur in the first hours following cardiac arrest are fundamentally minor and reversible in principle. Technology already exists that could recover people after more than 5 minutes of cardiac arrest, although it is seldom used. The conventional medical research value of donated brain tissue and living brain cells recovered from post-mortem donors further highlights the minor nature of brain changes in the early hours of clinical death.

Ultimately the difference between life and death for a cell, an organ, or an organism reduces to a difference in how atoms are arranged inside it. It therefore seems certain that future medicine capable of diagnosis and repair at a molecular level will be able to resuscitate people after longer periods of clinical death than medicine can today. How much memory and personality would survive repair and healing after hours of cardiac arrest is not currently known.

Cryopreservation of clinically dead patients is double speculation. First, as with all cryonics cases, it is assumed that the cryopreservation process will someday be reversible. Second, it is assumed that future medicine will be able to successfully recover people after long periods of cardiac arrest. Alcor therefore encourages members to reduce their risk profile for heart attack and stroke, and relocate close to Alcor during serious illness if possible. If despite these precautions a member experiences unattended cardiac arrest, Alcor will still proceed with cryopreservation unless a member indicates otherwise in their paperwork.

Cryonics should never be confused with funeral arrangements. Alcor rarely accepts cases involving legal death of a non-member. The combination of strong emotion, false hope, unfamiliarity with cryonics, low probability of success, and high cost of cryonics without life insurance make accepting such cases ethically difficult. People who think they may someday be interested in cryonics should therefore investigate cryonics now. Waiting until cryonics is needed almost always means it won't be available.

For Alcor members who have chosen to be cryopreserved under poor conditions if necessary, there is a final ethical point. As long as resuscitation medicine remains an unfinished science, it is unethical to use the label "dead" as a basis to dismiss cryonics. Calling someone "dead" is merely medicine's way of excusing itself from resuscitation problems it cannot fix today. This makes people feel better about abandoning the patient and making the unwarranted assumption that nobody could ever fix the problem. Cryonics, in contrast, is conservative care that acknowledges that the real line between life and death is unclear and not currently known. It is humility in the face of the unknown. It is the right thing to do.

Further information on Alcor procedures can be found in the Alcor Library section on Alcor Procedure and Training Manuals. See also the Alcor at Work Photo Gallery.

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Alcor Procedures - Alcor Life Extension Foundation

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Jan. 29, 2016 The mechanism used by specialized enzymes to remodel the extremely condensed genetic material in the nucleus of cells in order to control which genes can be used has been discovered. The research ... read more Ultrasound-Based Therapy for Cardiac Stem Cells Recovery Jan. 29, 2016 When cardiac stem cells undergo low-intensity pulsed ultrasound treatment, these cells can perform continuing modifications, tissue remodeling and regeneration of damaged cardiac tissue after a heart ... read more Assessing Stem Cells: New Biomarker Developed Jan. 29, 2016 A research team has found a way to assess the viability of 'manufactured' stem cells known as induced pluripotent stem cells (iPSCs). The team's discovery offers a new way to ... read more Jan. 29, 2016 Industry 4.0 requires comprehensive data collection in order to control highly automated process sequences in complex production environments. One example is the cultivation of living cells. But ... read more Protein Combination Improves Bone Regeneration, Study Shows Jan. 29, 2016 A combination of proteins that could improve clinical bone restoration, and could lead towards the development of therapeutic treatments for skeletal defects, bone loss and osteoporosis, report ... read more Cancer's Surprise Origins, Caught in Action Jan. 28, 2016 For the first time, researchers have visualized the origins of cancer from the first affected cell and watched its spread in a live animal. This work could change the way scientists understand ... read more Research Hints at a Nutritional Strategy for Reducing Autism Risk Jan. 28, 2016 Folic acid has long been touted as an important supplement for women of childbearing age for its ability to prevent defects in the baby's developing brain and spinal cord. In fact, folic acid is ... read more CRISPR Used to Repair Blindness-Causing Genetic Defect in Patient-Derived Stem Cells Jan. 28, 2016 Scientists have used a new gene-editing technology called CRISPR, to repair a genetic mutation responsible for retinitis pigmentosa (RP), an inherited condition that causes the retina to degrade and ... read more Jan. 27, 2016 The Achilles heel of hepatocellular carcinoma, a leading cause of cancer deaths worldwide, has been discovered by researchers. The key to disrupting chemo-resistant stem cells that become liver ... read more Scientists Make an Important Contribution to Decoding the Language of Cells Jan. 27, 2016 There are astonishing similarities between molecular mechanisms in neural stem cells and pancreatic islet cells, new research shows. This may lead to new forms of therapy, particularly for ... read more Jan. 25, 2016 A molecule that interrupts biochemical signals essential for the survival of a certain type of cancer stem cell has been discovered by ... read more How to Detect and Preserve Human Stem Cells in the Lab Jan. 22, 2016 Human stem cells that are capable of becoming any other kind of cell in the body have previously only been acquired and cultivated with difficulty. Scientists have now presented details of a method ... read more Jan. 21, 2016 A research team has now discovered how human macrophages can divide and self-renew almost indefinitely. As the researchers show in their new report, the macrophages achieve this by activating a gene ... read more Jan. 20, 2016 In 1917, Florence Sabin, the first female member of the US National Academy of Sciences, discovered hemangioblasts, the common precursor cells for blood cells and blood vessel endothelia. Her ... read more Breakthrough in Human Cell Transformation Could Revolutionize Regenerative Medicine Jan. 19, 2016 A breakthrough in the transformation of human cells by an international team of researchers could open the door to a new range of treatments for a variety of medical ... read more Jan. 19, 2016 Electrical stimulation of human heart muscle cells engineered from human stem cells aids their development and function, researchers have demonstrated for the first time. They used electrical ... read more Broken UV Light Leads to Key Heart Muscle Cell Discovery Jan. 18, 2016 For a team of investigators trying to generate heart muscle cells from stem cells, a piece of broken equipment turned out to be a good thing. The faulty equipment pushed the researchers to try a ... read more Jan. 14, 2016 Where and when do stem cells first appear during development? Researchers investigated this question by examining how cells organize as the hair follicle first appears in mouse embryos. They ... read more Donor's Genotype Controls Differentiation of Induced Pluripotent Stem Cells Jan. 14, 2016 Pluripotent stem cells derived from different cell types are equally susceptible to reprogramming, indicates a recent study. However, the genotype of the donor strongly influences the differentiation ... read more Mechanism That Controls Neuron Production from Stem Cells Revealed Jan. 13, 2016 The discovery of a mechanism enabling the production of cellular diversity in the developing nervous system has been announced by scientists. This discovery could improve the protocols to ... read more

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Stem Cells News -- ScienceDaily

Have you noticed signs of aging in your skin? Do you have more dullness, dryness, wrinkles, or sagging than you did five, ten, or fifteen years ago?

If so, youre not alone. All of us experience the aging process, which includes thinning, age spots, loss of strength and elasticity, and increased dryness because of reduced oil production. Most of us dont like the idea of showing our age soweseek solutions to help slow down and conceal the signs of aging on the skin. Though we already have some key tools to use in our fight against the aging process, including natural oils that deeply moisturize, essential fatty acids that plump and firm, and nutrients that help protect from outside elements, science has zoomed in on another powerful anti-aging ally: the stem cell.

At Annmarie Gianni Skin Care, were excited to talk about stem cells because weve found the perfect source to add to our Repair Serum. They come from a clean, natural, and environmentally friendly source and have been shown to help stimulate regeneration and repair on a cellular level for a smoother, tighter, more youthful complexion.

Plant stem cells can help stimulate skin to regenerate and repair itself.

Youve probably heard about stem cells in the news. Most of the media coverage has been about embryonic stem cells because of the controversial sources for these cells the truly amazing scientific discoveries using stem cells are totally overshadowed. Embryonic stem cells have the capacity to form any type of tissue in the body and because of that, they can regenerate failing organs and they are instrumental in working with degenerative diseases.

The adult body has stem cells too but they are a lot more limited than the embryonic stem cells. Adult stem cells are specific to the type of organ that theyre helping to repair and they are limited in what theyre able to restructure in the body. That means that if you have a deep scratch on your skin, the stem cells in your skin would work to repair it but the stem cells in your brain wouldnt be able to migrate to the skin. Adult stem cells are used to regenerate and repair the tissues in the body but they dont have the capacity to regenerate organs the way that embryonic stem cells do (if you lose an arm you cant grow it back, right?).

That being said, the skin is one of the primary locations where we see stem cells at work because the skin is constantly regenerating itself to protect the body from foreign substances. There are a few different types of stems cells that are specific to the integumentary system but the primary stem cell is the epidermal stem cells that are found in the deepest part of the epidermis layer of the skin.

Skin cells have a huge job to do. According to a study published in 2003, the outer layer of skin is always renewing and repairing itself by constant proliferation of a single inner layer of rapidly dividing progeny of stem cells. A more recent study published in 2012 found the existence of a new population of stem cells that give rise to progenitor cells that ensure the daily maintenance of the epidermis [outer layer] and demonstrate the major contribution of epidermal stem cells during wound healing.

Have you noticed that a babys skin can heal really quickly from even the deepest gashes without scarring? Thats a sign of new stem cells that are capable of complete repair. Contrast that with the last time your furry friend loved you a little too much and scratched your leg, how long did that take you heal? Did you scar?

As we age, we encounter the elements and things like sun damage, environmental pollutants, physical damage, and just general decrease in regeneration can weaken and reduce the skins supply of key stem cells. That means skin renewal slows down so if you have noticed that your skin doesnt appear as dewy or young-looking and youre not healing quite as quickly as you used to dont worry, its normal.

Finding help from the plant world is not new for us. All of our products already use the power of plants to help protect and restore the skin but were always looking for ways to make it more effective. We went looking for safe ways to encourage skin repair and regeneration and we werent surprised to find plant stem cells and learn about the amazing effects they can have on the skin.

A plants extra store of stem cells is why they are able to grow new leaves in the spring and how they continue to sprout new life and be a mature entity at the same time. Because plants cannot escape the danger around them, it has been argued that their stem cells may be even stronger than our own, capable of withstanding all types of environmental stress to continue to regenerate and restore the plants various systems throughout its lifetime.

But can plant stem cells really help our human stem cells? Research shows they can. It isnt that the stem cells from plants can regenerate our own stem cells, what the plant stem cells can do however, is protect our own skin cells so they live longer and they stimulate the renerative activity in our own stem cells.

What does that mean to you? Younger looking and acting skin!

In seeking out a source of stem cells for our Repair Serum, we wanted something that wouldnt be irritated for the skin. Thats why when we saw the tests behind citrus stem cells, we were convinced they were the right ones for our customers. Not only are they from a non-human and non-animal source, but they have solid studies behind them.

Here are some of the results that citrus-based stem cells were able to create on the skin:

Do you suffer from skin damage? Please share your story.

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citrus-derived stem cells - Annmarie Gianni Skin Care

Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.

The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.

Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.

Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.

A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.

Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.

Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.

Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.

Read more about the AR gene.

The inheritance pattern of androgenetic alopecia is unclear because many genetic and environmental factors are likely to be involved. This condition tends to cluster in families, however, and having a close relative with patterned hair loss appears to be a risk factor for developing the condition.

You may find the following resources about androgenetic alopecia helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

See the article here:
Androgenetic alopecia - Genetics Home Reference

for 1st YEAR STUDENTS X-LINKED INHERITANCE

hen the locus for a gene for a particular trait or disease lies on the X chromosome, the disease is said to be X-linked. The inheritance pattern for X-linked inheritance differs from autosomal inheritance only because the X chromosome has no homologous chromosome in the male, the male has an X and a Y chromosome. Very few genes have been discovered on the Y chromosome.

The inheritance pattern follows the pattern of segregation of the X and Y chromosomes in meiosis and fertilization. A male child always gets his X from one of his mother's two X's and his Y chromosome from his father. X-linked genes are never passed from father to son. A female child always gets the father's X chromosome and one of the two X's of the mother. An affected female must have an affected father. Males are always hemizygous for X linked traits, that is, they can never be heterozygoses or homozygotes. They are never carriers. A single dose of a mutant allele will produce a mutant phenotype in the male, whether the mutation is dominant or recessive. On the other hand, females must be either homozygous for the normal allele, heterozygous, or homozygous for the mutant allele, just as they are for autosomal loci.

When an X-linked gene is said to express dominant inheritance, it means that a single dose of the mutant allele will affect the phenotype of the female. A recessive X-linked gene requires two doses of the mutant allele to affect the female phenotype. The following are the hallmarks of X-linked dominant inheritance:

The following Punnett Squares explain the first three hallmarks of X-linked dominant inheritance. X represents the X chromosome with the normal allele, XA represents the X chromosome with the mutant dominant allele, and Y represents the Y chromosome. Note that the affected father never passes the trait to his sons but passes it to all of his daughters, since the heterozygote is affected for dominant traits. On the other hand, an affected female passes the disease to half of her daughters and half of her sons.

Males are usually more severely affected than females because in each affected female there is one normal allele producing a normal gene product and one mutant allele producing the non-functioning product, while in each affected male there is only the mutant allele with its non-functioning product and the Y chromosome, no normal gene product at all. Affected females are more prevalent in the general population because the female has two X chromosomes, either of which could carry the mutant allele, while the male only has one X chromosome as a target for the mutant allele. When the disease is no more deleterious in males than it is in females, females are about twice as likely to be affected as males. As shown in Pedigree 5 below, X-linked dominant inheritance has a unique heritability pattern.

The key for determining if a dominant trait is X-linked or autosomal is to look at the offspring of the mating of an affected male and a normal female. If the affected male has an affected son, then the disease is not X-linked. All of his daughters must also be affected if the disease is X-linked. In Pedigree 5, both of these conditions are met.

What happens when males are so severely affected that they can't reproduce? Suppose they are so severely affected they never survive to term, then what happens? This is not uncommon in X-linked dominant diseases. There are no affected males to test for X-linked dominant inheritance to see if the produce all affected daughters and no affected sons. Pedigree 6 shows the effects of such a disease in a family. There are no affected males, only affected females, in the population. Living females outnumber living males two to one when the mother is affected. The ratio in the offspring of affected females is: 1 affected female: 1 normal female: 1 normal male.

You will note that in Pedigree 6 there have also been several spontaneous abortions in the offspring of affected females. Normally, in the general population of us normal couples, one in six recognized pregnancies results in a spontaneous abortion. Here the ratio is much higher. Presumably many of the spontaneous abortions shown in Pedigree 6 are males that would have been affected had they survived to term.

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Human Genetics - Mendelian Inheritance 5

A recent study showed that nearly 13 million Americans may be unaware of and undiagnosed for their thyroid conditions. Are you one of them? Another study showed that if you are a pregnant woman and you have a low thyroid your child's IQ will be affected. Yet another recent study showed that if you an elderly woman with thyroid problems you will have an increased risk of heart disease

The big myth that persists regarding thyroid diagnosis is that an elevated TSH (thyroid stimulating hormone) level is always required before a diagnosis of hypothyroidism can be made. Normally, the pituitary gland will secrete TSH in response to a low thyroid hormone level. Thus an elevated TSH level would typically suggest an underactive thyroid.

If you find this information helpful click here to subscribe to the FREE weekly newsletter so you will get all the updates.

Click here to read my interview with Mary Shomon, the Thyroid guide from About.com.

Your Doctor Does Not Likely Understand How To Interpret Your Tests Properly

Thyroid function tests have always presented doctors with difficulties in their interpretation. Laboratory testing is often misleading due to the complexity and inherent shortcomings of the tests themselves. Many doctors not having an adequate understanding of what the test results mean, will often make incorrect assumptions based on them or interpret them too strictly. A narrow interpretation of thyroid function testing leads to many people not being treated for subclinical hypothyroidism.

Old Laboratory Tests Unreliable

Most all older thyroid function panels include the following:

These tests should be abandoned because they are unreliable as gauges of thyroid function. The most common traditional way to diagnose hypothyroidism is with a TSH that is elevated beyond the normal reference range. For most labs, this is about 4.0 to 4.5. This is thought to reflect the pituitary's sensing of inadequate thyroid hormone levels in the blood which would be consistent with hypothyroidism. There is no question that this will diagnose hypothyroidism, but it is far too insensitive a measure, and the vast majority of patients who have hypothyroidism will be missed.

Basal Body Temperature

Basal body temperature popularized by the late Broda Barnes, M.D. He found the clinical symptoms and the body temperature to be more reliable than the standard laboratory tests was provided. This is clearly better than using the standard tests. However there are problems with using body temperature.

New and More Accurate Way To Check for Hypothyroidism

This revised method of diagnosing and treating hypothyroidism seems superior to the temperature regulation method promoted by Broda Barnes and many natural medicine physicians. Most patients continue to have classic hypothyroid symptoms because excessive reliance is placed on the TSH. This test is a highly-accurate measure of TSH but not of the height of thyroid hormone levels.

New Range for TSH to Diagnose Hypothyroidism

The basic problem that traditional medicine has with diagnosing hypothyroidism is the so-called "normal range" of TSH is far too high: Many patients with TSH's of greater than 2.0 (not 4.5) have classic symptoms and signs of hypothyroidism (see below).

Free Thyroid Hormone Levels

One can also use the Free T3 and Free T4 and TSH levels to help one identify how well the thyroid gland is working. Free T3 and Free T4 levels are the only accurate measure of the actual active thyroid hormone levels in the blood.

When one uses free hormone levels one will find that it is relatively common to find the Free T4 and Free T3 hormone levels below normal when TSH is in its normal range, even in the low end of its normal range. When patients with these lab values are treated, one typically finds tremendous improvement in the patient, and a reduction of the classic hypothyroid symptoms.

Secondary or Tertiary Hypothyroidism

There are a significant number of individuals who have a TSH even below the new 1.5 reference range mentioned above, but their Free T3 (and possibly the Free T4 as well) will be below normal. These are cases of secondary or tertiary hypothyroidism, so, TSH alone is not an accurate test of all forms of hypothyroidism, only primary hypothyroidism.

Symptoms of Low Thyroid

Treatment of Hypothyroidism

You can click here for an article on how you can treat your thyroid problem with natural hormone therapy.

If you find this information helpful click here to subscribe to the FREE weekly newsletter so you will get all the updates.

If you are interested in a more comprehensive articles directed towards health care professionals click here. Also available is an excellent text book article on thyroid testing for those with more technical interests.

Mary Shomon is the http://www.about.com thyroid expert. Her $11 352 page book published in March of 2000 is one of the most cost effective and valuable resources that you could own on this subject. If you have thyroid disease this book should be in your library.

Click here to Purchase: Living Well With Hypothyroidism

The Los Angeles Times wrote: March 27, 2000 "Hypothyroidism is a common, very treatable disorder that is also poorly managed by doctors. In this first-rate book by Mary Shomon...the disorder, its myths, and medicine's successes and failures at dealing with it are thoroughly examined. This is not a book that rehashes old facts on thyroid disease. Shomon instead challenges patients and their doctors to look deeper and try harder to resolve the complicated symptoms of hypothyroidism...In a fascinating chapter, Shomon, who also has a Web site and an online newsletter about the disease, explores recent evidence that the addition of the thyroid hormone T3 to the standard T4 (levothyroxine) may help some people feel better. In addition, the section on babies born with hypothyroidism, although brief, has the best advice on how to give medication to an infant that I've seen. As Shomon writes: 'or years, thyroid problems have been downplayed, misunderstood and portrayed as unimportant.' With her advocacy, perhaps no more." -- Shari Roan

Dr. John Lowe, author of "Speeding Up to Normal" wrote:

Mary Shomon is the harbinger of the latest scientifically-sound information on hypothyroidism. With keen intellect, loyalty to truth, and plain language, she sweeps away the medical dogma that bars millions of patients from rational thyroid hormone therapies. In this book, she describes practical thyroid therapies that can improve patients' health and extend their lives. The book is vital for hypothyroid patients who want to get well, and for physicians who want to help them do so.

Originally posted here:
Hypothyroidism Diagnosis, Symptoms, and Treatment