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Operationalizing Gene Therapy Trials – Premier Research

Even measured against the vast scientific mystery that defines the biotech industry, gene therapy poses extraordinary challenges. Its still a young field, the science is stunningly complex, and the regulatory terrain is still evolving.

Sponsors and CROs have an understandably challenging time operationalizing clinical trials for new gene therapy treatments. In this webcast, well examine the history and current state of gene therapy research and investigate the obstacles in both patient recruitment and retention, study start-up regulations, and types of gene therapy vectors and vector delivery strategies.

Lisa Dilworth, Executive Director Program Strategy Rare Disease and Pediatrics, regularly consults with clients on key factors such as study design, eligibility criteria, appropriate patient populations, end point selection and program strategy in order to develop global therapeutic product strategies for rare and pediatric trials. Ms. Dilworths expertise and experience includes multiple gene therapy trials in subjects ranging from neonates to adults around the globe.

Ms. Dilworth holds a masters degree in Clinical Research from the University of California, San Diego and a Bachelors in Biology from the University of California, Berkeley. Her prior work as a study coordinator and various clinical operations roles enable her to work closely with clients, physicians and patients with a variety of disorders.

Nadia Zeini is currently working as Sr. Regulatory Study Start Up Manager at Premier Research since December 2016. She is responsible for all regulatory and start up activities in EU and non-EU countries, as applicable. Nadia Zeini has a solid regulatory background where she grew from local start up associate to Global Regulatory lead for ten years

Ms. Zeini holds a Chemistry-Major in Biochemistry from Complutense University in Spain as well as a Masters degree in Clinical Trials from Universidad of Seville in Spain.

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Operationalizing Gene Therapy Trials - Premier Research

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The Hormone Center – Alternative Medicine | Holistic …

A Doctor's Journey

I started to realize something was wrong when I saw a patient who was on 10 medications. The first five dealt with ailments while the second five were for the side effects of the first five. Despite the medications, the patient didn't feel any better. This was the beginning of my inquiry into another way to practice medicine.

Sometimes our practice gets lumped into the alternative medicine category. And while we are open to additional ways to treat illness, our protocols are based on science and deduction.

The Hormone Center is much more than a hormone treatment center or just a hormone physician. We practice integrativemedicine, which is sometimes confused with functionalmedicine.

We believe that medications are not always the answer and can often mask the true underlying conditions and imbalances. Even my kids chuckle when they see drug commercials that spend 15 seconds on the benefits and 45 seconds on the side effects.

And unfortunately 'healthcare in the U.S. is mistitled. It should be called sick-care because most people only engage the medical system when theyre sick, not when theyre healthy.

Our "hormone specialists" believe the following:

We believe that most people dont want to be on medications or live a sub-standard life but they often don't know what else to do.

At our core, we believe that from an evolutionary standpoint, the body is built to heal itself. Our job is to clear the obstacles and support the body, before resorting to more invasive measures. If this belief makes us alternative medicine doctors, then so be it.

We look forward to meeting you!

- Lauren D. Loya, M.D.

Founder and Medical Director of The Hormone Center

At The Hormone Center, we put an underlying focus on the cause, not the symptom. We are an integrative medicine practice and put our clients first. Some of our most sought-after services include:

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Recommendation and review posted by Bethany Smith

Hypopituitarism in Kids: Definition, Symptoms, Treatment

What is Hypopituitarism in Children?

The pituitary gland sends signals to other glands to produce hormones (for example, it makes thyroid stimulating hormone (TSH - which regulates production of thyroid hormone by the thyroid gland). The hormones released by the pituitary and other glands have a significant impact on important bodily functions, such as growth, reproduction, blood pressure, and metabolism (the physical and chemical processes of the body). When levels of one or more of these hormones are not properly balanced, the body's normal functions can be affected.

The pituitary gland produces several hormones.

In hypopituitarism, the level of one or more of these pituitary hormones is insufficient. The lack of hormone results in a loss of function of the gland or organ that it controls.

The most common pituitary hormone deficiency is growth hormone deficiency. In the United States, growth hormone deficiency occurs rarely with a frequency of less than 1 in 3,480 children.

Hypopituitarism in Children Causes

Hypopituitarism may be congenital (a condition present at birth) and caused by:

Hypopituitarism can also be acquired (a condition that develops later in life) and may be caused by:

Hypopituitarism in Children Symptoms

Symptoms vary depending on the child's age, underlying cause, and the involved hormone. Signs and symptoms may develop gradually and may not be specific.

Signs and symptoms that may be present in newborn babies include:

When to Seek Medical Care fo Hypopituitarism

Call the doctor or health care practitioner if the child develops symptoms.

Exams and Tests for Hypopituitarism

Blood tests may be performed to determine which hormone is low or absent.

The doctor may obtain an MRI of the brain to assess the structure of the pituitary or to detect a tumor.

Hypopituitarism Treatment

Treatment primarily involves hormone replacement therapy.

Medications

Drugs used to treat hypopituitarism replace the deficient hormone.

Hypopituitarism Surgery

Surgery may be performed if a tumor is present within or near the pituitary gland, depending on the type and location of the tumor, and depending on the symptoms being experienced.

Hypopituitarism Follow-up

The doctor or health care practitioner may schedule routine checkups every three months to monitor growth and development.

Frequent checkups for children on growth hormone replacement therapy may be scheduled to monitor progress and side effects.

A doctor who specializes in studying hormones (a pediatric endocrinologist) should supervise the treatment of children with hypopituitarism.

Outlook for Hypopituitarism

With appropriate treatment, the prognosis is very good.

John A. Seibel, MD; Board Certified Internal Medicine with a subspecialty in Endocrinology & Metabolism

REFERENCE:

"Causes and clinical manifestations of central adrenal insufficiency in children"UpToDate.com

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Hypopituitarism in Kids: Definition, Symptoms, Treatment

Recommendation and review posted by Rebecca Evans

Genetic Testing – KidsHealth

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

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Genetic Testing - KidsHealth

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The Universe of Genetic Testing | Lab Tests Online

Clinical genetic testing refers to the laboratory analysis ofDNAorRNAto aid in the diagnosis of disease. It is very important to understand that clinical genetic testing is quite different than other types of laboratory tests. Genetic testing is unique in that it can provide definitive diagnosis as well as help predict the likelihood of developing a particular disease before symptoms even appear; it can tell if a person is carrying a specific gene that could be passed on to his or her children; it can inform as to whether some treatments will work before a patient starts therapy. These are definite advantages. However, there are also some qualities of genetic testing that should be carefully thought out and perhaps discussed with agenetic counselorbefore undergoing any test. These aspects are reviewed in the section titledPros and Cons of Genetic Testing. In an era of patient responsibility, it is important that you be educated in these matters to fully appreciate the value as well as the drawbacks of genetic testing.

Testing Genetic Material

Testing of genetic material is performed on a variety of specimens including blood, urine, saliva, stool, body tissues, bone, or hair. Cells in these samples are isolated and the nucleic acids (DNA or sometimes RNA) within them is extracted and examined for possiblemutationsor alterations. Looking at small portions of the DNA within agenerequires specialized and specific laboratory testing. This is done to pinpoint the exact location of genetic errors. This section will focus on the examination of a person's genes to look for the one(s) responsible for a particular disease.

There are four basic reasons that genetic material is tested for clinical reasons. Presymptomatic testing identifies the presence of variant genes that cause disease even if the physical abnormalities associated with the disease are not yet present in an individual. Diagnostic genetic testing is performed on a symptomatic individual with symptoms sufficiently suggestive of a genetic disorder. This assists the individuals physician in making a clear diagnosis.

Testing of genetic material can also be performed as a prenatal screening tool to assess whether two individuals who wish to become parents have an autosomal orX-linked recessivegene that, when combined in a child, will produce a serious disorder in that child. This type of genetic testing is referred to ascarrierscreening. Fetuses developing in the uterus can also have their genetic material tested to assess their health status if it is thought to be in jeopardy.

To test DNA for medical reasons, some type of cellular material is required. This material can come from blood, urine, saliva, body tissues, bone marrow, hair, etc. The material can be submitted in a tube, on a swab, in a container, or frozen. If the test requires RNA, the same materials can be used. Once received in the laboratory, the cells are removed from the substance they are in, broken apart, and the DNA in thenucleiis isolated and extracted.

The laboratory professionals who perform and interpret these tests are specially trained physicians and scientists. The extracted DNA is manipulated in different ways in order for the molecular pathologist or genetic technologist to see what might be missing or mutated in such a way as to cause disease. One type of manipulation is "cutting" the DNA into small pieces using specialenzymes. These small pieces are much easier to test than the long strands of uncut DNA and they contain the genes of interest. Another manipulation is to apply the extracted and cut DNA to an agarose gel, apply an electrical field to the gel, and see how the DNA moves on the gel. This can indicate differences in the size of the pieces of the cut DNA that might be caused by specific mutations.

Other manipulations to DNA includeamplification, sequencing, or a special procedure called hybridization. When the results of these tests are examined and compared with results from a normal person, it is possible to see differences in the genes that might cause a disease.

Specific Genetic DiseasesThere are many diseases that are now thought to be caused by alterations in DNA. These alterations can either be inherited or can occur spontaneously. Some diseases that have a genetic component to them include:

Alzheimer's DiseaseBone Marrow DisordersBreast Cancer

Ovarian CancerColon CancerCystic Fibrosis

Down SyndromeHemochromotosisLeukemia

LupusLymphomaOsteoarthritis

Pre-senilin MutationSickle Cell AnemiaThalassemia

Several things can go wrong with the genes that make up the DNA, resulting in these and other diseases. The section below discusses what can happen to DNA, and specifically to genes, that might lead to a disease.

Genetic Variation and MutationAll genetic variations or polymorphisms originate from the process of mutation. Genetic variations occur sometimes during the process ofsomatic celldivision (mitosis). Other genetic variations can occur during meiosis, the cycle of division that a sperm cell or anovumgoes through. Some variations are passed along through the generations, adding more and more changes over the years. Sometimes these mutations lead to disease; other times there is no noticeable effect. Genetic variations can be classified into different categories: stable genetic variations, unstable genetic variations, silent genetic variations, and other types.

Stable genetic variations are caused by specific changes in single nucleotides. These changes are called single nucleotide polymorphisms or SNPs and can include:

If the SNP causes a new amino acid to be made, it is called a "missense mutation." An example of this is in sickle cell anemia, in which one nucleotide is substituted for another. The genetic variation in the gene causes a different amino acid to be added to a protein, resulting in a protein that doesn't do its job properly and causes cells to form sickle shapes and not carry oxygen.

Unstable genetic variations occur when a nucleotide sequence repeats itself over and over. This is called a "repeat" and is usually normal; however, if the number of repeats increases too greatly, it is called an "expanded repeat" and has been found to be the cause of many genetic disorders. An example of a disease caused by an expanded repeat isHuntington disease, a severe disorder of a part of the brain that is marked by dementia, hydrocephalus, and unusual movements.

Silent genetic variations are those mutations or changes in a gene that do not change the protein product of the gene. These mutations rarely result in a disease.

Other types of variations occur when an entire gene is duplicated somewhere in a person's genome. When this occurs, extra copies of the gene are present and make extra protein product. This is seen in a disorder that effects peripheral nerves and is called Charcot-Marie-Tooth disease type 1. Some variations occur in a special part of the gene that controls when DNA is copied to RNA. When the timing of protein production is thrown off, it results in decreased protein production. Other variations include a defect in a gene that makes a protein that serves to repair broken DNA in our cells. This variation can result in many types of diseases, including colorectal cancer and a skin disease called xeroderma pigmentosum.

Testing for Products of Genetic ExpressionMany inherited disorders are identified indirectly by examining abnormalities in the genetic end products (proteinsormetabolites) that are present in abnormal forms or quantities. As a reminder, genes code for the production of thousands of proteins and, if there is an error in the code, changes can occur in the production of those proteins. So, rather than detecting the problem in the gene, some types of testing look for unusual findings related to the pertinent proteins, such as their absence.

An example of testing for genetic products includes those widely used to screen newborns for a variety of disorders. For example, newborns are tested for phenylketonuria (PKU), an inherited autosomal recessive metabolic disorder caused by a variation in a gene that makes a special enzyme that breaks down phenylalanine, an amino acid. When too much of this substance builds up in blood, it can lead to mental retardation if not treated early in life with a special, restricted diet. The test uses a blood sample from a baby's heel to look for the presence of extra phenylalanine, rather than looking for the mutated gene itself. Other examples include blood tests for congenital hypothyroidism, diagnosed by low blood levels or absence of thyroid hormone, and congenital adrenal hyperplasia, a genetic disease that causes the hormone cortisol to be decreased in blood. Frequently, abnormal blood screening tests in the newborn may be augmented by genetic testing when appropriate (in cystic fibrosis, for example).

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The Universe of Genetic Testing | Lab Tests Online

Recommendation and review posted by sam

Genealogical DNA test – Wikipedia

A genealogical DNA test is a DNA-based test which looks at specific locations of a person's genome in order to determine ancestral ethnicity and genealogical relationships. Results give information about ethnic groups the test subject may be descended from and about other individuals that they may be related to.

Three principal types of genealogical DNA tests are available, with each looking at a different part of the genome and useful for different types of genealogical research: Autosomal, Mitochondrial, and Y. In general, genealogical DNA tests do not give information about medical conditions or diseases.

The first company to provide direct-to-consumer genetic DNA testing was the now defunct GeneTree. However, it did not offer multi-generational genealogy tests. In fall 2001, GeneTree sold its assets to Salt Lake City-based Sorenson Molecular Genealogy Foundation (SMGF) which originated in 1999.[1] While in operation, SMGF provided free Y-Chromosome and mitochondrial DNA tests to thousands.[2] Later, GeneTree returned to genetic testing for genealogy in conjunction with the Sorenson parent company and eventually was part of the assets acquired in the Ancestry.com buyout of SMGF.[3]

In 2000, Family Tree DNA, founded by Bennett Greenspan and Max Blankfeld, was the first company dedicated to direct-to-consumer testing for genealogy research. They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona.[4][5] [6] [7] [8]

In 2007, 23andMe was the first company to offer a saliva-based direct-to-consumer genetic testing[9]. It was also the first to implement using autosomal DNA for ancestry testing, which all other major companies now use.[10][11]

In 2018 it was estimated that over 12 million people had had their DNA tested for genealogical purposes, most of whom were in the USA.[12]

A genealogical DNA test is performed on a DNA sample. This DNA sample can be obtained by a cheek-scraping (also known as a buccal swab), spit-cups, mouthwash, and chewing gum. Typically, the sample collection uses a home test kit supplied by a service provider such as Anglia DNA Services, 23andMe, AncestryDNA, Family Tree DNA, MyHeritage, or National Geographic Genographic Project). After following the kit instructions on how to collect the sample, it is returned to the supplier for analysis.

There are three major types of genealogical DNA tests: Autosomal and X-DNA, Y-DNA and mtDNA.

Y-DNA and mtDNA cannot be used for ethnicity estimates, but can be used to find one's haplogroup, which is unevenly distributed geographically.[14] Direct-to-consumer DNA test companies have often labeled haplogroups by continent or ethnicity (e.g., an "African haplogroup" or a "Viking haplogroup"), but these labels may be speculative or misleading.[14][15][16]

Autosomal DNA is contained in the 22 pairs of chromosomes not involved in determining a person's sex.[14] Autosomal DNA recombines each generation, and new offspring receive one set of chromosomes from each parent.[17] These are inherited exactly equally from both parents and roughly equally from grandparents to about 3x great-grand parents.[18] Therefore, the number of markers (one of two or more known variants in the genome at a particular location known as Single-nucleotide polymorphisms or SNPs) inherited from a specific ancestor decreases by about half each generation; that is, an individual receives half of their markers from each parent, about a quarter of their markers from each grandparent; about an eighth of their markers from each great grandparent, etc. Inheritance is more random and unequal from more distant ancestors.[19] Generally, a genealogical DNA test might test about 700,000 SNPs (specific points in the genome).[20]

The preparation of a report on the DNA in the sample proceeds in multiple stages:

All major service providers use equipment with chips supplied by Illumina.[21] The chip determines which SNP locations are tested. Different versions of the chip are used by different service providers. In addition, updated versions of the Illumina chip may test different sets of SNP locations. The list of SNP locations and base pairs at that location is usually available to the customer as "raw data". The raw data can sometimes be uploaded to another service provider to produce an additional interpretation and matches. For additional analysis the data can also be uploaded to GEDmatch (a third-party web based set of tools that analyzes raw data from the main service providers).

The major component of an autosomal DNA test is matching other individuals. Where the individual being tested has a number of consecutive SNPs in common with a previously tested individual in the company's database, it can be inferred that they share a segment of DNA at that part of their genomes.[22] If the segment is longer than a threshold amount set by the testing company, then these two individuals are considered to be a match. Unlike the identification of base pairs, the data bases against which the new sample is tested, and the algorithms used to determine a match, are proprietary and specific to each company.

The unit for segments of DNA is the centimorgan (cM). For comparison, a full human genome is about 6500 cM. The shorter the length of a match, the greater are the chances that a match is spurious.[23] An important statistic for subsequent interpretation is the length of the shared DNA (or the percentage of the genome that is shared).

Most companies will show the customers how many cMs they share, and across how many segments. From the number of cMs and segments, the relationship between the two individuals can be estimated, however due to the random nature of DNA inheritance, relationship estimates, especially for distant relatives, are only approximate. Some more distant cousins will not match at all.[24] Although information about specific SNPs can be used for some purposes (eg suggesting likely eye colour), the key information is the percentage of DNA shared by 2 individuals. This can indicate the closeness of the relationship. However, it does not show the roles of the 2 individuals - eg 50% shared suggests a parent - child relationship, but does not identify which individual is the parent.

Various advanced techniques and analysis can be done on this data. This includes features such as In-common/Shared Matches,[25] Chromosome Browsers[26] and Triangulation[27]. This analysis is often required if DNA evidence is being used to prove or disprove a specific relationship.

The X-chromosome SNP results are often included in Autosomal DNA tests. Both males and females receive an X-chromosome from their mother, but only females receive a second X-chromosome from their father.[28] The X-chromosome has a special path of inheritance patterns and can be useful in significantly narrowing down possible ancestor lines compared to atDNA for example an X-chromosome match with a male can only have come from his maternal side.[29] Like autosomal DNA, X-chromosome DNA undergoes random recombination at each generation (except for father to daughter X-chromosomes which are passed down unchanged). There are specialised inheritance charts which describe the possible patterns of X-chromosome DNA inheritance for males and females.[30]

Some genealogical companies offer autosomal STRs (short tandem repeats). These are similar to Y-DNA STRs. The number of STRs offered is limited, and not genealogically useful.

The mitochondrion is a component of a human cell, and contains its own DNA. Mitochondrial DNA usually has 16,569 base pairs (the number can vary slightly depending on addition or deletion mutations)[31] and is much smaller than the human genome DNA which has 3.2 billion base pairs. Mitochondrial DNA is transmitted from mother to child, thus a direct maternal ancestor can be traced using mtDNA. The transmission occurs with relatively rare mutations compared to the genome DNA. A perfect match found to another person's mtDNA test results indicates shared ancestry of possibly between 1 and 50 generations ago.[14] More distant matching to a specific haplogroup or subclade may be linked to a common geographic origin.

There is debate over whether or not paternal mtDNA transmission is possible in humans. Some authors cite paternal mtDNA transmission as invalidating mtDNA testing.[32] However, other studies hold that paternal mtDNA is never transmitted to offspring,[33] which would validate the use of mTDNA testing for genealogy.

mtDNA, by current conventions, is divided into three regions. They are the coding region (00577-16023) and two Hyper Variable Regions (HVR1 [16024-16569], and HVR2 [00001-00576]).[34]

The two most common mtDNA tests are a sequence of HVR1 and HVR2 and a full sequence of the mitochondria. Generally, testing only the HVRs has limited genealogical use so it is increasingly popular and accessible to have a full sequence. The full sequence is somewhat controversial because the coding region DNA may reveal medical information about the test-taker.[35]

All humans descend in the direct female line from Mitochondrial Eve, a female who lived probably around 200,000 years ago in Africa. Different branches of her descendants are different haplogroups. Most mtDNA results include a prediction or exact assertion of one's mtDNA Haplogroup. Mitochrondial haplogroups were greatly popularized by the book The Seven Daughters of Eve, which explores mitochondrial DNA.

It is not normal for test results to give a base-by base list of results. Instead, results are normally compared to the Cambridge Reference Sequence (CRS), which is the mitochondria of a European who was the first person to have their mtDNA published in 1981 (and revised in 1999).[36] Differences between the CRS and testers are usually very few, thus it is more convenient than listing one's raw results for each base pair.

Note that in HVR1, instead of reporting the base pair exactly, for example 16,111, the 16 is often removed to give in this example 111. The Letters refer to one of the 4 bases (A, T, G, C) that make up human DNA.

mtDNA testing was used by University of Leicester archaeologists to verify the skeletal remains of King Richard III, found in September 2012.[37]

The Y-Chromosome is one of the 23rd pair of human chromosomes. Only males have a Y-chromosome, because women have two X chromosomes in their 23rd pair. A man's patrilineal ancestry, or male-line ancestry, can be traced using the DNA on his Y chromosome (Y-DNA), because the Y-chromosome is transmitted father to son nearly unchanged.[38] A man's test results are compared to another man's results to determine the time frame in which the two individuals shared a most recent common ancestor, or MRCA, in their direct patrilineal lines. If their test results are very close, they are related within a genealogically useful time frame.[39] A surname project is where many individuals whose Y-chromosomes match collaborate to find their common ancestry.

Women who wish to determine their direct paternal DNA ancestry can ask their father, brother, paternal uncle, paternal grandfather, or a paternal uncle's son (their cousin) to take a test for them.

There are two types of DNA testing: STRs and SNPs.[14]

Most common is STRs (short tandem repeat). A certain section of DNA is examined for a pattern that repeats (e.g. ATCG). The number of times it repeats is the value of the marker. Typical tests test between 12 and 111 STR markers. STRs mutate fairly frequently. The results of two individuals are then compared to see if there is a match. Close matches may join a surname project. DNA companies will usually provide an estimate of how closely related two people are, in terms of generations or years, based on the difference between their results.[40]

A person's haplogroup can often be inferred from their STR results, but can be proven only with a Y-chromosome SNP tests (Y-SNP test).

A single-nucleotide polymorphism (SNP) is a change to a single nucleotide in a DNA sequence. Typical Y-DNA SNP tests test about 20,000 to 35,000 SNPs.[41] Getting a SNP test allows a much higher resolution than STRs. It can be used to provide additional information about the relationship between two individuals and to confirm haplogroups.

All human men descend in the paternal line from a single man dubbed Y-chromosomal Adam, who lived probably between 200,000 and 400,000 years ago. A 'family tree' can be drawn showing how men today descend from him. Different branches of this tree are different haplogroups. Most haplogroups can be further subdivided multiple times into sub-clades. Some known sub-clades were founded in the last 1000 years, meaning their timeframe approaches the genealogical era (c.1500 onwards).[42]

New sub-clades of haplogroups may be discovered when an individual tests, especially if they are non-European. Most significant of these new discoveries was in 2013 when the haplogroup A00 was discovered, which required theories about Y-chromosomal Adam to be significantly revised. The haplogroup was discovered when an African-American man tested STRs at FamilyTreeDNA and his results were found to be unusual. SNP testing confirmed that he does not descend patrilineally from the "old" Y-chromosomal Adam and so a much older man became Y-Chromosomal Adam.

Many companies offer a percentage breakdown by ethnicity or region. Generally the world is specified into about 2025 regions, and the approximate percentage of DNA inherited from each is stated. This is usually done by comparing the frequency of each Autosomal DNA marker tested to many population groups.[14] The reliability of this type of test is dependent on comparative population size, the number of markers tested, the ancestry informative value of the SNPs tested, and the degree of admixture in the person tested. Earlier ethnicity estimates were often wildly inaccurate, but their accuracies have since improved greatly.[citation needed] Usually the results at the continental level are accurate, but more specific assertions of the test may turn out to be incorrect. For example, Europeans often receive an exaggerated proportion of Scandinavian.[43] Testing companies will often regularly update their ethnicity estimate, changing an individual's ethnicity estimate.

The interest in genealogical DNA tests has been linked to both an increase in curiosity about traditional genealogy and to more general personal origins. Those who test for traditional genealogy often utilize a combination of autosomal, mitochondrial, and Y-Chromosome tests. Those with an interest in personal ethnic origins are more likely to use an autosomal test. However, answering specific questions about the ethnic origins of a particular lineage may be best suited to an mtDNA test or a Y-DNA test.

For recent genealogy, exact matching on the mtDNA full sequence is used to confirm a common ancestor on the direct maternal line between two suspected relatives. Because mtDNA mutations are very rare, a nearly perfect match is not usually considered relevant to the most recent 1 to 16 generations.[44] In cultures lacking matrilineal surnames to pass down, neither relative above is likely to have as many generations of ancestors in their matrilineal information table as in the above patrilineal or Y-DNA case: for further information on this difficulty in traditional genealogy, due to lack of matrilineal surnames (or matrinames), see Matriname.[45] However, the foundation of testing is still two suspected descendants of one person. This hypothesize and test DNA pattern is the same one used for autosomal DNA and Y-DNA.

As discussed above, autosomal tests usually report the ethnic proportions of the individual. These attempt to measure an individual's mixed geographic heritage by identifying particular markers, called ancestry informative markers or AIM, that are associated with populations of specific geographical areas. Geneticist Adam Rutherford has written that these tests "dont necessarily show your geographical origins in the past. They show with whom you have common ancestry today."[46]

The haplogroups determined by Y-DNA and mtDNA tests are often unevenly geographically distributed. Many direct-to-consumer DNA tests described this association to infer the test-taker's ancestral homeland.[16] Most tests describe haplogroups according to their most frequently associated continent (e.g., a "European haplogroup").[16] When Leslie Emery and collaborators performed a trial of mtDNA haplogroups as a predictor of continental origin on individuals in the Human Genetic Diversity Panel (HGDP) and 1000 Genomes (1KGP) datasets, they found that only 14 of 23 haplogroups had a success rate above 50% among the HGDP samples, as did "about half" of the haplogroups in the 1KGP.[16] The authors concluded that, for most people, "mtDNA-haplogroup membership provides limited information about either continental ancestry or continental region of origin."[16]

Y-DNA and mtDNA testing may be able to determine with which peoples in present-day Africa a person shares a direct line of part of his or her ancestry, but patterns of historic migration and historical events cloud the tracing of ancestral groups. Due to joint long histories in the US, approximately 30% of African American males have a European Y-Chromosome haplogroup[47] Approximately 58% of African Americans have at least the equivalent of one great-grandparent (13%) of European ancestry. Only about 5% have the equivalent of one great-grandparent of Native American ancestry. By the early 19th century, substantial families of Free Persons of Color had been established in the Chesapeake Bay area who were descended from free people during the colonial period; most of those have been documented as descended from white men and African women (servant, slave or free). Over time various groups married more within mixed-race, black or white communities.[48]

According to authorities like Salas, nearly three-quarters of the ancestors of African Americans taken in slavery came from regions of West Africa. The African-American movement to discover and identify with ancestral tribes has burgeoned since DNA testing became available. African Americans usually cannot easily trace their ancestry during the years of slavery through surname research, census and property records, and other traditional means. Genealogical DNA testing may provide a tie to regional African heritage.

Melungeons are one of numerous multiracial groups in the United States with origins wrapped in myth. The historical research of Paul Heinegg has documented that many of the Melungeon groups in the Upper South were descended from mixed-race people who were free in colonial Virginia and the result of unions between the Europeans and Africans. They moved to the frontiers of Virginia, North Carolina, Kentucky and Tennessee to gain some freedom from the racial barriers of the plantation areas.[49] Several efforts, including a number of ongoing studies, have examined the genetic makeup of families historically identified as Melungeon. Most results point primarily to a mixture of European and African, which is supported by historical documentation. Some may have Native American heritage as well. Though some companies provide additional Melungeon research materials with Y-DNA and mtDNA tests, any test will allow comparisons with the results of current and past Melungeon DNA studies

The pre-columbian indigenous people of the United States are called "Native Americans" in American English.[50] Autosomal testing, Y-DNA, and mtDNA testing can be conducted to determine the ancestry of Native Americans. A mitochondrial Haplogroup determination test based on mutations in Hypervariable Region 1 and 2 may establish whether a person's direct female line belongs to one of the canonical Native American Haplogroups, A, B, C, D or X. The vast majority of Native American individuals belong to one of the five identified mtDNA Haplogroups. Thus, being in one of those groups provides evidence of potential Native American descent. However, DNA ethnicity results cannot be used as a substitute for legal documentation.[51] Native American tribes have their own requirements for membership, often based on at least one of a person's ancestors having been included on tribal-specific Native American censuses (or final rolls) prepared during treaty-making, relocation to reservations or apportionment of land in the late 19th century and early 20th century. One example is the Dawes Rolls.

The Cohanim (or Kohanim) is a patrilineal priestly line of descent in Judaism. According to the Bible, the ancestor of the Cohanim is Aaron, brother of Moses. Many believe that descent from Aaron is verifiable with a Y-DNA test: the first published study in genealogical Y-Chromosome DNA testing found that a significant percentage of Cohens had distinctively similar DNA, rather more so than general Jewish or Middle Eastern populations. These Cohens tended to belong to Haplogroup J, with Y-STR values clustered unusually closely around a haplotype known as the Cohen Modal Haplotype (CMH). This could be consistent with a shared common ancestor, or with the hereditary priesthood having originally been founded from members of a single closely related clan.

Nevertheless, the original studies tested only six Y-STR markers, which is considered a low-resolution test. In response to the low resolution of the original 6-marker CMH, the testing company FTDNA released a 12-marker CMH signature that was more specific to the large closely related group of Cohens in Haplogroup J1.

A further academic study published in 2009 examined more STR markers and identified a more sharply defined SNP haplogroup, J1e* (now J1c3, also called J-P58*) for the J1 lineage. The research found "that 46.1% of Kohanim carry Y chromosomes belonging to a single paternal lineage (J-P58*) that likely originated in the Near East well before the dispersal of Jewish groups in the Diaspora. Support for a Near Eastern origin of this lineage comes from its high frequency in our sample of Bedouins, Yemenis (67%), and Jordanians (55%) and its precipitous drop in frequency as one moves away from Saudi Arabia and the Near East (Fig. 4). Moreover, there is a striking contrast between the relatively high frequency of J-58* in Jewish populations (20%) and Kohanim (46%) and its vanishingly low frequency in our sample of non-Jewish populations that hosted Jewish diaspora communities outside of the Near East."[52]

Recent phylogenetic research for haplogroup J-M267 placed the "Y-chromosomal Aaron" in a subhaplogroup of J-L862, L147.1 (age estimate 5631-6778yBP yBP): YSC235>PF4847/CTS11741>YSC234>ZS241>ZS227>Z18271 (age estimate 2731yBP).[53]

For people with European maternal ancestry, mtDNA tests are offered to determine which of eight European maternal "clans" the direct-line maternal ancestor belonged to. This mtDNA haplotype test was popularized in the book The Seven Daughters of Eve.

Genealogical DNA tests have become popular due to the ease of testing at home and their usefulness in supplementing genealogical research. Genealogical DNA tests allow for an individual to determine with high accuracy whether he or she is related to another person within a certain time frame, or with certainty that he or she is not related. DNA tests are perceived as more scientific, conclusive and expeditious than searching the civil records. However, they are limited by restrictions on lines that may be studied. The civil records are always only as accurate as the individuals having provided or written the information.

Y-DNA testing results are normally stated as probabilities: For example, with the same surname a perfect 37/37 marker test match gives a 95% likelihood of the most recent common ancestor (MRCA) being within 8 generations,[54] while a 111 of 111 marker match gives the same 95% likelihood of the MRCA being within only 5 generations back.[55]

As presented above in mtDNA testing, if a perfect match is found, the mtDNA test results can be helpful. In some cases, research according to traditional genealogy methods encounters difficulties due to the lack of regularly recorded matrilineal surname information in many cultures (see Matrilineal surname).[45]

Autosomal DNA combined with genealogical research has been used by adoptees to find their biological parents,[56] has been used to find the name and family of unidentified bodies[57] and by law enforcement agencies to apprehend criminals.[58]

Common concerns about genealogical DNA testing are cost and privacy issues.[59] Some testing companies[60] retain samples and results for their own use without a privacy agreement with subjects.[61][62]

Autosomal DNA tests can identify relationships with good accuracy out to about 2nd cousin,[63] but they have limitations.[64][65][66] In particular, transplants of stem cell or bone marrow will produce matches with the donor. In addition, identical twins (who have identical DNA) will share higher amounts of DNA with a greater range of relatives.[67]

Testing of the Y-DNA lineage from father to son may reveal complications, due to unusual mutations, secret adoptions, and false paternity (i.e., that the perceived father in a generation is not the father indicated by written birth records).[68] According to the Ancestry and Ancestry Testing Task Force of the American Society of Human Genetics, autosomal tests cannot detect "large portions" of DNA from distant ancestors because it has not been inherited.[69]

With the increasing popularity of the use of DNA tests for ethnicity tests, uncertainties and errors in ethnicity estimates are a drawback for Genetic genealogy. While ethnicity estimates at the continental level should be accurate (with the possible exception of East Asia and the Americas), sub-continental estimates, especially in Europe, are often inaccurate. Customers may be misinformed about the uncertainties and errors of the estimates.[70]

Some have recommended government or other regulation of ancestry testing to ensure its performance to an agreed standard.[71]

A number of law enforcement agencies attempt to coerce genetic genealogy companies that store customer's data into giving up information on their customers who could match cold case crime victims[72] or perpetrators. A number of companies fight the requests.[73] The Contra Costa County District Attorney's office used the "open-source" genetic genealogy site GEDmatch to find a relative of the suspect in the Golden State Killer case.[74][75]

Though genealogical DNA test results in general have no informative medical value and are not intended to determine genetic diseases or disorders, a correlation exists between a lack of DYS464 markers and infertility, and between mtDNA haplogroup H and protection from sepsis. Certain haplogroups have been linked to longevity in some population groups.[76][77]

The testing of full mtDNA sequences is still somewhat controversial as it may reveal medical information. The field of linkage disequilibrium, unequal association of genetic disorders with a certain mitochondrial lineage, is in its infancy, but those mitochondrial mutations that have been linked are searchable in the genome database Mitomap.[78] The National Human Genome Research Institute operates the Genetic And Rare Disease Information Center[79] that can assist consumers in identifying an appropriate screening test and help locate a nearby medical center that offers such a test.

Some[which?] genealogy software programs allow recording DNA marker test results, allowing for tracking of both Y-chromosome and mtDNA tests, and recording results for relatives.[80] DNA-family tree wall charts are available.

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What Are the Uses for Genetic Tests? – Verywell Health

As scientific and medical discoveries help us better understand how our genetic makeup affects our bodies and our health, new tests are also being developed to help individuals know whether their genes align with certain diseases or conditions. People have begun to wonder whether they should undergo genetic testing. That decision can be made by understanding what genetic testing is all aboutand reviewing the pros and cons of genetic testing.

For thousands of years, human bodies have developed diseases or conditions with very little knowledge about why. Why does one woman develop breast cancer, but another one does not? Why does one man develop Parkinson's disease, but another does not? While environmental factors could tell part of the story, it was recognized that there must be something about that person's body that contributed to the development of these medical problems, too.

Early development of medical science was mostly aimed at making sure diseases and conditions could be cured or healed. During the past 50 or 60 years, science began looking at a person's genetic makeup as a way to answer more fundamental questions about why humans varied in their development of these kinds of problems.

Other human body questions developed over time, too, often in response to legal questions. Questions like, who fathered a particular baby? Or whose blood was found on a murder weapon?

Beginning in the 1950s and '60s when DNA was discovered as the basis of human cells, and genes were discovered as the basis for DNA and heredity, and therefore no two human beings had exactly the same genes or DNA, scientists realized they could begin to answer some of those questions. For example, if they examined the genetic makeup of a group of people who had the same disease, they could come to some conclusions about the similarities of their genes, and why their genes were different from someone who did not have that disease. Or, if they mapped someone's DNA, they could compare it to someone else's DNA and know whether the two people were related.

By 2003, the Human Genome Project was completed, and scientists were able to identify every gene in a human's body. Other scientists began pairing them with the medical problems they cause. Among the earliest disease-identifiable genes were the BRCA genes, known to influence development of breast cancer. More new gene-disease identifications are being made every day.

As these pairings are discovered, scientists can begin to see how they influence development of disease or conditions, and can, hopefully, someday then develop ways to stop those genes from their destiny of creating those medical problems. These are the early days of personalized medicine. Personalized medicine means a person's genetic makeup is what influences either preventive steps to avoid disease, or drugs or other medical treatments that are tailored to a person based on their genetic makeup.

What Types of Genetic Tests Exist?

Some genetic tests have been around for decades. The testing of blood, saliva, hair and skin has been done for decades to determine everything from "whodunnit?" to paternity.

Others have been in use for several years. Genetic screening tests may take place before a baby is conceived to make determinations about whether parents' offspring will be prone to develop certain diseases or conditions. Prior to insemination, a woman and man will both undergo genetic testing to determine whether or not their baby will develop a genetic disease like cystic fibrosis, sickle cell, or Huntington's disease. Once they know the chances, they can better determine whether they should conceive that baby.

Today new tests are being developed for many types of diseases that may improve our knowledge of our health histories and possibly predict our health futures. Tests have been developed to determine someone's risk for developing Alzheimer's disease, high blood pressure, or lung cancer, or for example. These kinds of tests are in their infancy, and for most, scientists disagree on their accuracy.

Why Are There Questions About the Pros and Cons of Genetic Testing?

There are very few questions about the reliability of genetic testing for blood evidence, parent identification or pre-natal determinations because they are quite definitive and have already proved themselves to be useful.

Questions arise for those tests which have not yet proven their value. Even when a gene can be aligned with a certain disease, and even if it can be determined that someone possesses that version of a gene, that does not guarantee that person will develop the disease. Even if it could prove someone will develop the disease, there may be no way to alter that development or even treat them if they do develop it. Those are factors which influence the tests' value.

Scientists and researchers are definitely interested in making sure genetic testing takes place as they develop more and more approaches to personalized medicine. The more testing that takes place, the more evidence they have for procedures, processes, and treatments that may or may not work.

But today, there is little medical value for patients to have their genes tested in regards to future disease development. There are a few exceptionsthose aimed at identifying breast and other female cancers, for example. Over time, new, more definite tests and next steps will be developed for even more diseases and conditions.

Therefore, questions arise about whether or not someone should have their genes screened for these types of diseases today. You'll want to be aware of the pros and cons to genetic testing.

What Are the Pros of Genetic Testing?

For those tests that are already in regular use, like paternity or pre-natal genetic testing, there are well-document positive outcomes. They put people in control of information that helps them make solid decisions about their future medically, financially and legally. Having that kind of definitive knowledge is a definite pro for many people.

This is also true for those genetic tests that are in use for some disease predictions, such as the BRCA testing. Women who learn they have specific indicators and a good chance that they will develop the disease can make decisions based on that knowledge.

And that is the most important "pro" for any genetic testingknowledge. If you are someone who just wants to know about possibilities so you can make decisions, then you might want to have the testing. For example, you might be tested for genetic markers for Alzheimer's Disease. If you learn your body will have a tendency to develop Alzheimer's Disease, you might make preventive choices in your younger years to give yourself the best chance of not developing it.

One other positive outcome is that by having your genes screened, your information will be put into a database of information which can be shared by researchers and scientists around the world. They are learning more about how to use this information to develop treatment to help our children, their children and so forth in the future. In fact, some people are willing to undergo testing simply to further science, in hopes it will benefit their descendants.

What Are the Cons of Genetic Testing?

Because most of the world of genetic testing and personalized medicine is so new, there are still many questions it cannot address. Also, since most genetic testing only raises more questions, instead of providing answers, it may actually create more problems than it solves. Further, there are a number of legal and ethical implications surrounding genetic testing, most of which lean toward the negative.

Here are the questions which suggest those potential problems:

As time goes on, more tests will be developed, more laws will be created to address them, and personalized medicine will become an effective approach to treating human beings for medical problems. But for now, patients must review the pros and cons of genetic testing for themselves to decide whether it is the right step for them.

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What Are the Uses for Genetic Tests? - Verywell Health

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Best DNA Testing Kits 2018 – Genetic Testing for Ancestry …

Why Trust Us?I spoke with DNA experts from the National Society of Genetic Counselors, Ancestry.com and with CeCe Moore, the DNA expert for PBSs Finding Your Roots. I spent more than 15 hours researching dog DNA tests, DNA health and fitness tests and paternity tests. I also spent more than 20 hours researching ancestry DNA tests alone. I swabbed and spat to submit my DNA to seven ancestry DNA companies and spent hours browsing my results from each company.

There are many different DNA tests for sale right now. As Brianne Kirkpatrick, a certified genetic counselor by the National Society of Genetic Counselors and founder of private DNA consulting company WatershedDNA told us, It can be hard to know as a consumer which test is best for you, because there are many different things that can come from testing and each company provides a slightly different offering.

We focused our research and testing on tests that consumers can easily take or administer in the privacy of their homes. I took all of the ancestry DNA tests myself, just as a consumer would, by signing up and paying for the services directly. We didnt have access to any premium features or portals that regular consumers dont have and we researched and cold-called companies as if we were normal people.

Top Ten Reviews has been reviewing tech products for over a decade, and weve been reviewing DNA products for over a year. I am an experienced writer and reviewer and I have tested and written reviews for many digital products and services for Top Ten Reviews.

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Good Hormone Health | Become a Healthier You

Does this sound like you? Too tired to function during the day, but cant sleep at night. Keep gaining weight in spite of eating clean and working out with a personal trainer. Becoming depressed, moody and irritable. Achy. Sweating. Bloated. Ever thought you had a hormonal disorder or wanted to have your thyroid thoroughly checked. You may want to look over the information on the Goodhormonehealth.com website and see if making an appointment with Dr. Friedman is appropriate.

The key to getting your life back starts with getting the right information from an expert Endocrinologist who is dedicated to educating and treating patients with all types of hormonal disorders. Goodhormonehealth is dedicated to providing just that. Check out our collection of articles backed by research, provided by Theodore C. Friedman, MD, PhD on the detection and treatment of hormone imbalances, pituitary, thyroid, adrenal disorders, low testosterone, menopause and Cushings disease/syndrome. You can then decide if you want to make an appointment with Dr. Friedman.

So many of us believe that fatigue, weight gain, loss of libido and other problems are just symptoms we must learn to live with. What if these symptoms are not the result of stress, diet, or aging, but are actually caused by a hormonal disorder? Symptoms of hormone deficiency or excess may be subtle and difficult to diagnose. Many hormonal problems are misdiagnosed as depression, especially in women.You know your own body better than anyone else, and you know when something is wrong. Dr. Friedman is a compassionate, caring physician who will listen carefully to your concerns and work with you to establish a diagnosis and treatment plan. As an experienced, board-certified endocrinologist and researcher, he has the capabilities to diagnose and treat even the most difficult hormonal problems. Dr. Friedman has found that many of his patients suffer from undiagnosed pituitary, thyroid or adrenal problems or are improperly treated for these conditions. These include many people with Cushings disease, which can present with a baffling array of symptoms and is frequently misdiagnosed. Other patients may have pituitary, thyroid or adrenal insufficiency, each of which have numerous symptoms and are equally hard to diagnose. Menopause is a challenging time and Dr. Friedman specializing in treating women with menopause. Dr. Friedman is a world-renown expert in these difficult-to-diagnose diseases and is happy to see patients from around the country (and around the world) who need a straight answer to their hormone problems. Dr. Friedman is a take action doctor who wont delay treatment and just tell you to come back in 3 months. He thinks out of the box (yet is well-grounded in conventional Endocrinology) and often diagnoses hormonal problems where other doctors have failed. Dr. Friedman is not an anti-aging doctor and works to return low hormones levels to normal unlike anti-aging doctors who give high doses of hormones often to those with normal levels. Dr. Friedman listens to symptoms and uses reliable laboratories for testing.

Dr. Friedman appeared as an expert Endocrinologist (along with his patient Kate) in a program called Science of Obesity, which was produced for and aired on the National Geographic Channel.

Find out more on pertinent endocrine issues. Dr. Friedman give tips to readers about how they can improve or augment actions in their life to have ahealthylifestyle.

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Feminizing hormone therapy – Mayo Clinic

Overview

Feminizing hormone therapy is used to induce physical changes in your body caused by female hormones during puberty (secondary sex characteristics) to promote the matching of your gender identity and your body (gender congruence). If feminizing hormone therapy is started before the changes of male puberty begin, male secondary sex characteristics, such as increased body hair and changes in voice pitch, can be avoided. Feminizing hormone therapy is also referred to as cross-sex hormone therapy.

During feminizing hormone therapy, you'll be given medication to block the action of the hormone testosterone. You'll also be given the hormone estrogen to decrease testosterone production and induce feminine secondary sex characteristics. Changes caused by these medications can be temporary or permanent. Feminizing hormone therapy can be done alone or in combination with feminizing surgery.

Feminizing hormone therapy isn't for all transgender women, however. Feminizing hormone therapy can affect your fertility and sexual function and cause other health problems. Your doctor can help you weigh the risks and benefits.

Mayo Clinic's approach

Feminizing hormone therapy is used to alter your hormone levels to match your gender identity. Typically, people who seek feminizing hormone therapy experience distress due to a difference between experienced or expressed gender and sex assigned at birth (gender dysphoria). To avoid excess risk, the goal is to maintain hormone levels in the normal range for the target gender.

Feminizing hormone therapy can:

Although use of hormones is currently not approved by the Food and Drug Administration for the treatment of gender dysphoria, research suggests that it can be safe and effective.

If used in an adolescent, hormone therapy typically begins at age 16. Ideally, treatment starts before the development of secondary sex characteristics so that teens can go through puberty as their identified gender. Hormone therapy is not typically used in children.

Feminizing hormone therapy isn't for all trans women. Your doctor might discourage feminizing hormone therapy if you:

Talk to your doctor about the changes in your body and any concerns you might have. Complications of feminizing hormone therapy might include:

Current evidence indicates that there is no increased risk of breast cancer.

Because feminizing hormone therapy might reduce your fertility, you'll need to make decisions about future childbearing before starting treatment. The risk of permanent infertility increases with long-term use of hormones, especially when hormone therapy is initiated before puberty. Even after discontinuation of hormone therapy, testicular function might not recover sufficiently to ensure conception.

If you want to have biological children, talk to your doctor about freezing your sperm (sperm cryopreservation) before beginning feminizing hormone therapy.

Other side effects of estrogen use in trans women include reduced libido, erectile function and ejaculation. Erectile function might improve with the use of oral medications such as sildenafil (Viagra) or tadalafil (Adcirca, Cialis).

Before starting feminizing hormone therapy, your doctor will evaluate your health to rule out or address any medical conditions that might affect or contraindicate treatment. The evaluation might include:

You might also need a mental health evaluation by a provider with expertise in transgender health. The evaluation might assess:

Adolescents younger than age 18, accompanied by their parents or guardians, also should see doctors and mental health providers with expertise in pediatric transgender health to discuss the risks of hormone therapy, as well as the effects and possible complications of gender transition.

Typically, you'll begin feminizing hormone therapy by taking the diuretic spironolactone (Aldactone) at doses of 100 to 200 milligrams daily. This blocks male sex hormone (androgen) receptors and can suppress testosterone production.

After six to eight weeks, you'll begin taking estrogen to decrease testosterone production and induce feminization. Estrogen can be taken in a variety of methods, including as a pill, by injection or in skin preparations, such as a cream, gel, spray or patch. Don't take estrogen orally, however, if you have a personal or family history of venous thrombosis. Use of gonadotropin-releasing hormone (Gn-RH) analogs to suppress testosterone production might allow you to take lower estrogen doses and wouldn't require the use of spironolactone. However, Gn-RH analogs are more expensive.

Additional therapies might include:

Feminizing hormone therapy will begin producing changes in your body within weeks to months. Your timeline might look as follows:

During your first year of feminizing hormone therapy, you'll need to see your doctor approximately every three months for checkups, as well as anytime you make changes to your hormone regimen. Your doctor will:

After feminizing hormone therapy, you will also need routine preventive care, including:

Oct. 07, 2017

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Bone Marrow-Derived Stem Cell Therapy Milwaukee, WI …

Advanced Therapy with Advanced Results

Since 1968, the medical community has been harnessing the incredible healing, and regenerative power of bone marrow-derived stem cells. Bone Marrow Derived Stem Cell Therapy takes stem cells isolated from your bone marrow and relocates them to heal, regenerate and treat damaged areas and chronic conditions. This revolutionary technology is a result of decades of evidence-based research and advancements in the area of stem cells.

A process called hematopoiesis, which occurs inside your bones, has been working to grow and regenerate cells in your body since you were in the womb. The human body is in constant high demand for blood cells, so the hematopoiesis process stays hard at work to produce. During hematopoiesis, hematopoietic stem cells are produced with the raw potential power to develop into white blood cells, red blood cells, and platelets. Blood cells are vital to immune function and healing, so these stem cells are rich in growth factors that facilitate the repair and replacement of damaged cells. Mesenchymal stem cells are also found in bone marrow. Mesenchymal stem cells are reserved adult stem cells that help facilitate the regeneration of tissue naturally in the body. They are an integral part of wound healing, regulation of aging, and stabilizing vital organs. These mesenchymal stem cells are considered to be raw potential meaning they can differentiate into the tissue cells needed in a specific area. These mesenchymal stem cells have the potential to repair damaged cartilage, bone, tendons, muscle, skin, and connective cell tissue.

Stem cell therapy is one of the newest and most cutting-edge therapies for chronic joint pain. Using this therapy, our providers offer patients essential properties for healing and restoring joint health:

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Hypopituitarism | Hormone Health Network

More about Rare Diseases

Hypopituitarism (also called pituitary insufficiency) is a rare condition in which your pituitary gland doesn't make enough of certain hormones. Your body can't work properly when important glands, such as your thyroid gland and adrenal gland, don't get the hormones they need from your pituitary gland. 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 you're 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. It's 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.

Link:
Hypopituitarism | Hormone Health Network

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Hypothyroidism – Symptoms, Treatment, and More

Hypothyroidism is a condition in which your thyroid glanda small, butterfly-shaped gland in your neckdoes not produce enough thyroid hormone. It is sometimes referred to as an "underactive" thyroid. Hypothyroidism slows down a person's metabolism, leading to symptoms like weight gain, sluggishness, feeling cold, and more. A simple blood test called thyroid-stimulating hormone (TSH) can diagnose hypothyroidism, and thyroid hormone replacement medication can treat it.

By gaining knowledge about hypothyroidism, including what it feels like to have this thyroid problem, and how it's diagnosed and managed, you will be more prepared and self-assured as you embark on your thyroid journey.

A look at the anatomy of the thyroid, located above the collarbone.

Your thyroid gland uses dietary iodine to make thyroid hormone. When there is a deficiency in thyroid hormone, your body has trouble using energy and staying warm.

Your muscles, brain, and other organs may also have trouble functioning.

The signs and symptoms of hypothyroidism are variable and can be subtle, even mistaken for stress or another medical problem.

Here is a closer look at some of the symptoms a person with an underactive thyroid may experience:

There are a number of health issues and conditions that cause hypothyroidism.

The autoimmune disease Hashimotos thyroiditis is the most common cause of hypothyroidism in the United States. In this disease, antibodies attack the thyroid gland, making it incapable of functioning properly.

Post-surgical hypothyroidism refers to insufficient thyroid hormone due to surgical removal of all or part of the thyroid gland. Surgery on the thyroid is known as a thyroidectomy.

Radiation-induced hypothyroidism may occur from radioactive iodine (RAI) therapy, which is used to treat hyperthyroidism and thyroid cancer. Exposure to radiation treatments to the head and neck, or radioactive fallout from nuclear accidents like Chernobyl or Fukushima, may also cause hypothyroidism.

With congenital hypothyroidism, newborns come into the world without a thyroid gland or with a partial thyroid gland.

Hypothyroidism may also result from taking certain medications (called drug-induced hypothyroidism). While this is not a comprehensive list, some of the more commonly known medications include:

Hypothyroidism can occur with too little iodine consumption (called iodine-deficiency hypothyroidism) or if too much iodine is consumed (called iodine-induced hypothyroidism).

In secondary or central hypothyroidism, the pituitary gland (located in your brain) is damaged (from a tumor, radiation, or surgery) and is unable to trigger your thyroid gland to produce thyroid hormone.

Rarely, hypothyroidism from infiltrative diseases (for example, sarcoidosis or hemochromatosis) can deposit substances (like granulomas or iron, respectively) into the thyroid gland, reducing its ability to function.

The diagnosis of hypothyroidism requires a clinical examination and blood tests.

Clinical Examination In addition to a clinical thyroid examination, which includes a manual and visual examination of the thyroid gland, a doctor will also perform a physical examination to look for signs of hypothyroidism. Some of these signs include dry, coarse skin, a slow heart rate, slow reflexes, and swelling.

Blood Tests

The main blood test used to diagnose hypothyroidism is the thyroid stimulating hormone (TSH) test. This test measures TSH, a pituitary hormone. TSH rises when it detects low levels of thyroid hormone, and drops when it detects excess thyroid hormone. Laboratories have established a reference range, and levels above the reference range are considered potentially indicative of hypothyroidism.

In addition, the unbound and available levels of the actual circulating thyroid hormonesfree thyroxine (free T4) and free triiodothyronine (free T3)may be measured. There are reference ranges for these two hormone tests, and levels below the reference range (showing that there is insufficient free T4 and/or free T3) are considered indicative of hypothyroidism.

Hypothyroidism is treated with a thyroid hormone replacement drug, which is a medication that replaces the missing thyroid hormone in the body.

LevothyroxineThe most commonly prescribed thyroid hormone replacement drug is known generically as levothyroxine, a synthetic form of the thyroid hormone thyroxine (T4).

LiothyronineThere is also a synthetic form of the T3 hormone, known as liothyronine. It is sometimes added to levothyroxine as part of a therapy known as T4/T3 combination treatment, though this practice is considered controversial by the many endocrinologists and mainstream practitioners.

Natural Desiccated ThyroidFinally, there is a hormone replacement drug called natural desiccated thyroid, sometimes abbreviated NDT or called "thyroid extract." NDT contains natural forms of both T4 and T3. While it has been available for more than a century, and is still in use today, it is considered controversial by the mainstream medical community and is prescribed more often by integrative, functional, and holistic physicians, as compared to endocrinologists and conventional physicians.

The official guidelines of various endocrinology organizations position levothyroxine as the preferred treatment, and discourage both T4/T3 combination therapy and use of NDT.

A Word From Verywell

Whether you (or a loved one) has been recently diagnosed with hypothyroidism, or you are being currently treated for it, but still not feeling right, please know that you are not alone. Continue to seek knowledge about your thyroid disease and remain resilient as you navigate this sometimes taxing journey.

Also, remember that living well with hypothyroidism is not just about medication. It's also important to eat well, get enough rest, make time for exercise and play, and manage your stress. And even if you feel like youre fighting an uphill battle with doctors, treatments, and debilitating symptoms, don't give up. You will eventually find the answers that will help you live well and feel well.

Sources:

American Thyroid Association. (n.d.). Hypothyroidism (Underactive).

Braverman, L, Cooper D. Werner & Ingbar's The Thyroid, 10th Edition. WLL/Wolters Kluwer; 2012.

Garber J et. al. Clinical Practice Guidelines for Hypothyroidism in Adults: Cosponsored by the American Association of Clinical Endocrinologists and the American Thyroid Association. Endocr Pract. 2012 Nov-Dec;18(6):988-1028.

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Hypothyroidism - Symptoms, Treatment, and More

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Gene therapy – Mayo Clinic

Overview

Gene therapy involves altering the genes inside your body's cells in an effort to treat or stop disease.

Genes contain your DNA the code that controls much of your body's form and function, from making you grow taller to regulating your body systems. Genes that don't work properly can cause disease.

Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease. Gene therapy holds promise for treating a wide range of diseases, such as cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.

Researchers are still studying how and when to use gene therapy. Currently, in the United States, gene therapy is available only as part of a clinical trial.

Gene therapy is used to correct defective genes in order to cure a disease or help your body better fight disease.

Researchers are investigating several ways to do this, including:

Gene therapy has some potential risks. A gene can't easily be inserted directly into your cells. Rather, it usually has to be delivered using a carrier, called a vector.

The most common gene therapy vectors are viruses because they can recognize certain cells and carry genetic material into the cells' genes. Researchers remove the original disease-causing genes from the viruses, replacing them with the genes needed to stop disease.

This technique presents the following risks:

The gene therapy clinical trials underway in the U.S. are closely monitored by the Food and Drug Administration and the National Institutes of Health to ensure that patient safety issues are a top priority during research.

Currently, the only way for you to receive gene therapy is to participate in a clinical trial. Clinical trials are research studies that help doctors determine whether a gene therapy approach is safe for people. They also help doctors understand the effects of gene therapy on the body.

Your specific procedure will depend on the disease you have and the type of gene therapy being used.

For example, in one type of gene therapy:

Viruses aren't the only vectors that can be used to carry altered genes into your body's cells. Other vectors being studied in clinical trials include:

The possibilities of gene therapy hold much promise. Clinical trials of gene therapy in people have shown some success in treating certain diseases, such as:

But several significant barriers stand in the way of gene therapy becoming a reliable form of treatment, including:

Gene therapy continues to be a very important and active area of research aimed at developing new, effective treatments for a variety of diseases.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Dec. 29, 2017

Originally posted here:
Gene therapy - Mayo Clinic

Recommendation and review posted by simmons

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eBay determines this price through a machine learned model of the product's sale prices within the last 90 days.

eBay determines trending price through a machine learned model of the products sale prices within the last 90 days. "New" refers to a brand-new, unused, unopened, undamaged item, and "Used" refers to an item that has been used previously.

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life extension | eBay

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Employees Jump at Genetic Testing. Is That a Good Thing …

While regulators called their decision a step forward in the availability of direct-to-consumer genetic screening, they explicitly warned that the test did not detect most mutations that increase breast cancer risk. They also warned consumers not to use the tests as a substitute for qualified medical care and genetic counseling.

Color, the genomics company, takes something of a middle road. It markets comprehensive medical diagnostic tests that screen for all mutations of certain genes known to be linked to certain kinds of heredity cancers and heart risks. It has doctors available to order its tests online for users and provides genetic counseling to discuss users results.

By using genetics, you can help some people prevent or interrupt something at an earlier stage where the costs are much lower, said Othman Laraki, chief executive of Color Genomics. The start-up advises users that they could develop major diseases even if their test results show no harmful mutations.

Executives at SAP and Nvidia said they hoped genetic screening might ultimately help prevent at least a few late-stage cancers, the kinds of life-threatening illnesses that can debilitate employees and cost companies with self-funded health plans more than $1 million in medical fees.

After Nvidia began offering free screening from Color last year, about 27 percent of its 6,000 eligible employees in the United States took the test. After SAP started subsidizing the genetic tests last year, about 17 percent of the companys 30,000 eligible employees and family members participated.

In the long-term view of a program like this, its going to pay for itself, said Jason J. Russell, who oversees employee compensation and benefits for SAP North America. And, he added, You are creating good will with employees.

Given the expense of screening more people of average risk as well as follow-up costs from additional tests, medicines, surgery and potential complications from surgeries experts said that overall medical expenditures were actually likely to increase. Even so, they said, spending on screening for conditions like hereditary high cholesterol, which increases risk for strokes and heart attacks before the age of 50, could ultimately prolong some lives.

You are getting good preventive care value for money, said David L. Veenstra, a professor at the University of Washington who studies health outcomes and economics.

Color has raised $150 million from venture capital firms like General Catalyst as well as Bay Area tech luminaries including Max Levchin, a PayPal co-founder; Sundar Pichai, Googles chief executive; and Laurene Powell Jobs, a philanthropist-investor who is the widow of the Apple co-founder Steve Jobs.

The company has reduced genetic testing costs by using robotics and machine learning and eliminating tasks like in-person prescreening by doctors. It charges $249 for hereditary risk screening for eight of the most common cancers and began offering that price while more established medical diagnostics firms were charging $4,000 for similar tests.

The price point appealed to OpenTable. It started offering genetic screening benefits after an employee with a history of cancers told executives she was spending thousands of dollars out of her own pocket to pay for hereditary risk tests.

This was a really interesting opportunity to provide some choice to our employees that was accessible and affordable so they could better understand their own personal health, said Christa Quarles, chief executive of OpenTable.

As for privacy concerns, executives at several companies said that Color regularly sent them aggregated data on the number of employees with harmful disease mutations, but that the data is not tied to identifying details like employees names or birth dates.

As more large-scale research is conducted, medical recommendations may change. More than 150,000 patients, for instance, have enrolled in a DNA sequencing study at Geisinger Health, a medical center in Danville, Pa. And the federal advisory panel is updating its recommendation on genetic screening for certain breast cancer mutations.

Executives at several companies that have signed up with Color said they were aware of the debate over genetic screening, but said they believed the start-up was simply ahead of the curve.

Over time, innovation becomes consensus science, said Mr. Russell of SAP.

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Employees Jump at Genetic Testing. Is That a Good Thing ...

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Bone marrow transplant – Mayo Clinic

Overview

A bone marrow transplant is a procedure that infuses healthy blood stem cells into your body to replace your damaged or diseased bone marrow. A bone marrow transplant is also called a stem cell transplant.

A bone marrow transplant may be necessary if your bone marrow stops working and doesn't produce enough healthy blood cells.

Bone marrow transplants may use cells from your own body (autologous transplant) or from a donor (allogeneic transplant).

Mayo Clinic's approach

A bone marrow transplant may be used to:

Bone marrow transplants can benefit people with a variety of both cancerous (malignant) and noncancerous (benign) diseases, including:

Bone marrow is the spongy tissue inside some bones. Its job is to produce blood cells. If your bone marrow isn't functioning properly because of cancer or another disease, you may receive a stem cell transplant.

To prepare for a stem cell transplant, you receive chemotherapy to kill the diseased cells and malfunctioning bone marrow. Then, transplanted blood stem cells are put into your bloodstream. The transplanted stem cells find their way to your marrow, where ideally they begin producing new, healthy blood cells.

A bone marrow transplant poses many risks of complications, some potentially fatal.

The risk can depend on many factors, including the type of disease or condition, the type of transplant, and the age and health of the person receiving the transplant.

Although some people experience minimal problems with a bone marrow transplant, others may develop complications that may require treatment or hospitalization. Some complications could even be life-threatening.

Complications that can arise with a bone marrow transplant include:

Your doctor can explain your risk of complications from a bone marrow transplant. Together you can weigh the risks and benefits to decide whether a bone marrow transplant is right for you.

If you receive a transplant that uses stem cells from a donor (allogeneic transplant), you may be at risk of developing graft-versus-host disease (GVHD). This condition occurs when the donor stem cells that make up your new immune system see your body's tissues and organs as something foreign and attack them.

Many people who have an allogeneic transplant get GVHD at some point. The risk of GVHD is a bit greater if the stem cells come from an unrelated donor, but it can happen to anyone who gets a bone marrow transplant from a donor.

GVHD may happen at any time after your transplant. However, it's more common after your bone marrow has started to make healthy cells.

There are two kinds of GVHD: acute and chronic. Acute GVHD usually happens earlier, during the first months after your transplant. It typically affects your skin, digestive tract or liver. Chronic GVHD typically develops later and can affect many organs.

Chronic GVHD signs and symptoms include:

You'll undergo a series of tests and procedures to assess your general health and the status of your condition, and to ensure that you're physically prepared for the transplant. The evaluation may take several days or more.

In addition, a surgeon or radiologist will implant a long thin tube (intravenous catheter) into a large vein in your chest or neck. The catheter, often called a central line, usually remains in place for the duration of your treatment. Your transplant team will use the central line to infuse the transplanted stem cells and other medications and blood products into your body.

If a transplant using your own stem cells (autologous transplant) is planned, you'll undergo a procedure called apheresis (af-uh-REE-sis) to collect blood stem cells.

Before apheresis, you'll receive daily injections of growth factor to increase stem cell production and move stem cells into your circulating blood so that they can be collected.

During apheresis, blood is drawn from a vein and circulated through a machine. The machine separates your blood into different parts, including stem cells. These stem cells are collected and frozen for future use in the transplant. The remaining blood is returned to your body.

If a transplant using stem cells from a donor (allogeneic transplant) is planned, you will need a donor. When you have a donor, stem cells are gathered from that person for the transplant. This process is often called a stem cell harvest or bone marrow harvest. Stem cells can come from your donor's blood or bone marrow. Your transplant team decides which is better for you based on your situation.

Another type of allogeneic transplant uses stem cells from the blood of umbilical cords (cord blood transplant). Mothers can choose to donate umbilical cords after their babies' births. The blood from these cords is frozen and stored in a cord blood bank until needed for a bone marrow transplant.

After you complete your pretransplant tests and procedures, you begin a process known as conditioning. During conditioning, you'll undergo chemotherapy and possibly radiation to:

The type of conditioning process you receive depends on a number of factors, including your disease, overall health and the type of transplant planned. You may have both chemotherapy and radiation or just one of these treatments as part of your conditioning treatment.

Side effects of the conditioning process can include:

You may be able to take medications or other measures to reduce such side effects.

Based on your age and health history, your doctor may recommend lower doses or different types of chemotherapy or radiation for your conditioning treatment. This is called reduced-intensity conditioning.

Reduced-intensity conditioning kills some cancer cells and somewhat suppresses your immune system. Then, the donor's cells are infused into your body. Donor cells replace cells in your bone marrow over time. Immune factors in the donor cells may then fight your cancer cells.

Your bone marrow transplant occurs after you complete the conditioning process. On the day of your transplant, called day zero, stem cells are infused into your body through your central line.

The transplant infusion is painless. You are awake during the procedure.

The transplanted stem cells make their way to your bone marrow, where they begin creating new blood cells. It can take a few weeks for new blood cells to be produced and for your blood counts to begin recovering.

Bone marrow or blood stem cells that have been frozen and thawed contain a preservative that protects the cells. Just before the transplant, you may receive medications to reduce the side effects the preservative may cause. You'll also likely be given IV fluids (hydration) before and after your transplant to help rid your body of the preservative.

Side effects of the preservative may include:

Not everyone experiences side effects from the preservative, and for some people those side effects are minimal.

When the new stem cells enter your body, they begin to travel through your body and to your bone marrow. In time, they multiply and begin to make new, healthy blood cells. This is called engraftment. It usually takes several weeks before the number of blood cells in your body starts to return to normal. In some people, it may take longer.

In the days and weeks after your bone marrow transplant, you'll have blood tests and other tests to monitor your condition. You may need medicine to manage complications, such as nausea and diarrhea.

After your bone marrow transplant, you'll remain under close medical care. If you're experiencing infections or other complications, you may need to stay in the hospital for several days or sometimes longer. Depending on the type of transplant and the risk of complications, you'll need to remain near the hospital for several weeks to months to allow close monitoring.

You may also need periodic transfusions of red blood cells and platelets until your bone marrow begins producing enough of those cells on its own.

You may be at greater risk of infections or other complications for months to years after your transplant.

A bone marrow transplant can cure some diseases and put others into remission. Goals of a bone marrow transplant depend on your individual situation, but usually include controlling or curing your disease, extending your life, and improving your quality of life.

Some people complete bone marrow transplantation with few side effects and complications. Others experience numerous challenging problems, both short and long term. The severity of side effects and the success of the transplant vary from person to person and sometimes can be difficult to predict before the transplant.

It can be discouraging if significant challenges arise during the transplant process. However, it is sometimes helpful to remember that there are many survivors who also experienced some very difficult days during the transplant process but ultimately had successful transplants and have returned to normal activities with a good quality of life.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Living with a bone marrow transplant or waiting for a bone marrow transplant can be difficult, and it's normal to have fears and concerns.

Having support from your friends and family can be helpful. Also, you and your family may benefit from joining a support group of people who understand what you're going through and who can provide support. Support groups offer a place for you and your family to share fears, concerns, difficulties and successes with people who have had similar experiences. You may meet people who have already had a transplant or who are waiting for a transplant.

To learn about transplant support groups in your community, ask your transplant team or social worker for information. Also, several support groups are offered at Mayo Clinic in Arizona, Florida and Minnesota.

Mayo Clinic researchers study medications and treatments for people who have had bone marrow transplants, including new medications to help you stay healthy after your bone marrow transplant.

If your bone marrow transplant is using stem cells from a donor (allogeneic transplant), you may be at risk of graft-versus-host disease. This condition occurs when a donor's transplanted stem cells attack the recipient's body. Doctors may prescribe medications to help prevent graft-versus-host disease and reduce your immune system's reaction (immunosuppressive medications).

After your transplant, it will take time for your immune system to recover. You may be given antibiotics to prevent infections. You may also be prescribed antifungal, antibacterial or antiviral medications. Doctors continue to study and develop several new medications, including new antifungal medications, antibacterial medications, antiviral medications and immunosuppressive medications.

After your bone marrow transplant, you may need to adjust your diet to stay healthy and to prevent excessive weight gain. Maintaining a healthy weight can help prevent high blood pressure, high cholesterol and other negative health effects.

Your nutrition specialist (dietitian) and other members of your transplant team will work with you to create a healthy-eating plan that meets your needs and complements your lifestyle. Your dietitian may also give you food suggestions to control side effects of chemotherapy and radiation, such as nausea.

Your dietitian will also provide you with healthy food options and ideas to use in your eating plan. Your dietitian's recommendations may include:

After your bone marrow transplant, you may make exercise and physical activity a regular part of your life to continue to improve your health and fitness. Exercising regularly helps you control your weight, strengthen your bones, increase your endurance, strengthen your muscles and keep your heart healthy.

Your treatment team may work with you to set up a routine exercise program to meet your needs. You may perform exercises daily, such as walking and other activities. As you recover, you can slowly increase your physical activity.

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Bone marrow transplant - Mayo Clinic

Recommendation and review posted by Bethany Smith

Common ancestors of all humans (using genetics)

In fact, by focusing only on common ancestry of DNA that gets inherited,all CA's found in genetic studies will be much older than the MRCA.

Our most recent female-female line ancestor is called "Mitochondrial Eve"since Mitochondrial DNA passes (almost) entirely through the female lineand so may be used to estimate a date for her.Contrary to a lot of confused discussion,e.g. [Ayala, 1995],Mitochondrial Eve's existence is not in doubt.We can work it out from our armchair.What is in dispute is the date,which has been estimated at 100,000 to 200,000 years ago.

Also contrary to much confused discussion by paleontologists,no date for Mitochondrial Eve implies any sort ofpopulation bottleneck at that time. Mitochondrial Eve would have co-existedwith huge numbers of male andfemale relations from whom we also descend.Indeed, [Ayala, 1995] points out thatour inheritance from Mitochondrial Evewould be only 1 part in 400,000 of our DNA.The rest we inherit from her contemporaries.But he still spends half the paper attacking the ideaof a small ancestral population - an idea that no one believes.

As a result of thinking about Y chromosome Adam, we can see that if we use surnames strictly in the male line forever into the future,then not only will all hereditary titles die out,but all surnames except one will die out too.

The world does not of course strictly follow that surname rule,but the West approximately does,and surnames do go extinct.Without a mechanism for generating entirely new surnames from scratch(not belonging to either parent)the diversity of surnames can only decline.Neil Frasernicely describes it as"a random walk - next to a cliff. The only force acting on the system is that once a name randomly stumbles to zero it is gone and can never recover."

Say for one gene, your father's two copies are AB,your mother's are CD.You could end up with AC, your sibling could end up with BD.For this gene only,there is no genetic evidence of your recent common ancestry.

If there are n events at which to choose betweenyour father's grandfather copy and grandmother copy,the probability of you inheriting from himnone of your grandfather's DNA (*)is:

(*) If you are your father's daughter.If his son, you must inherit the Y chromosome.We will ignore the special cases of themale-male and female-female lines.Admittedly these are hard to ignore with grandparents,since they are 2 of only 4 lines,but these 2 special lines can be ignored as we go back 10 generations or more.

[Chang, 1999, author's reply]discusses this extreme case.I'm not sure if n=23 here(the no. of chromosomes).Then the probability of all grandmother,none from grandfather, would be(1/2)23= 1 in 223= 1 in 8.4 million.

If we allow for crossover, the probability of all grandmother,none from grandfather, is:

If n=23,(1/4)23= 1 in 246= 1 in 70 trillion.

Q. Is n=23?

If n=23probability (3/4)23 = 1 in 747.

How does crossover affect this?If one great-grandparent is c,your father has 3/4 chance of getting either c,or c crossed with d.He then has 3/4 chance of passing this on,either as is or crossed over.So you have (3/4)2 = 0.56 chance of inheriting some c,or 1 - (3/4)2 = 0.44 chance of inheriting none.So we get chance of inheriting no DNAfrom a great-grandparent is:

If n=23probability (0.44)23= 1 in 181 million.

Q. Is n=23?

If n=23, the probability depends on t.This is equal to 1/2 for:1-(1/2)t-1 = 0.971/2t-1 = 0.032t-1 = 33.7t-1 = 5In other words, more than 6 generations back,the prob. of inheriting no DNA at all from one of yourancestors is more than 1/2.

But what about crossover?With crossover, the probability of inheriting none of the DNAof an ancestor at generation t is:

If n=23, the probability depends on t.This is equal to 1/2 for:(3/4)t-1 = 0.03t-1 = 12In other words, more than 13 generations back,the prob. of inheriting no DNA at all from one of yourancestors is more than 1/2.Note that at 13 generations back (c. 1500s - 1600s) you have8192 ancestors.

Q. Is n=23?

For small n, it is easier (more probable) to not inherit from an ancestor.With a single event (n=1), it could easily lose that event.With a large number of events, it is unlikely it losesthem all.For large n, it is harder to not inheritfrom an ancestor.As n goes to infinity, you must have inherited some DNAfrom the ancestor.

We can see that above, for any finite t,as n goes to infinity,the probability of not inheriting goes to zero.

For an MRCA 30 generations ago,you need 230 people = 1 billion peopleto be sure that their samples of1 part in 230 of the ancestor's DNAmust overlap.

As I say, I need to do more reading on this.I'm sure this has been discussed before.There is some discussion of this in[Wiuf and Hein, 1999].

So the "real" CAs (the CA1s) outnumber the CAs of a gene (the CA4s),but do they vastly outnumber them?As genome size tends to infinity(i.e. n goes to infinity)it becomes impossible for an actual ancestor (CA1) not to be at leasta partial genetic ancestor (CA2) as well.So the difference between CA1 and CA2 breaks down.

I used to say on this page:

but now we can see this is not so.(At least I put in "(I think)" in the correct place!)The difference between CA2 and CA3 does not break down.For any finite n, you are getting a larger inheritance from the ancestoralright,but it is still only 1 part in 2t,so for any 2 descendants it is quite possible that their samplesdo not overlap (for any reasonable size t).The probability of overlap depends on t, not on n.

For instance, [O'Connell, 1995] is confused about Mitochondrial Eve's relation to the fossil record- no date for Mitochondrial Eve, no matter how recent,could possibly contradict the fossil record studied by the paleontologists.This is based on the error of assuming that Mitochondrial Eve is important(see above).

One could even say that genealogy is the pursuit of statistical artefacts.

Link:
Common ancestors of all humans (using genetics)

Recommendation and review posted by simmons

Genetic testing – Mayo Clinic

Overview

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes (mutations) in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.

Talking to your doctor, a medical geneticist or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

When genetic testing doesn't lead to a diagnosis but a genetic cause is still suspected, some facilities offer genome sequencing a process for analyzing a sample of DNA taken from your blood.

Everyone has a unique genome, made up of the DNA in all of a person's genes. This complex testing can help identify genetic variants that may relate to your health. This testing is usually limited to just looking at the protein-encoding parts of DNA called the exome.

Genetic testing plays a vital role in determining the risk of developing certain diseases as well as screening and sometimes medical treatment. Different types of genetic testing are done for different reasons:

Generally genetic tests have little physical risk. Blood and cheek swab tests have almost no risk. However, prenatal testing such as amniocentesis or chorionic villus sampling has a small risk of pregnancy loss (miscarriage).

Genetic testing can have emotional, social and financial risks as well. Discuss all risks and benefits of genetic testing with your doctor, a medical geneticist or a genetic counselor before you have a genetic test.

Before you have genetic testing, gather as much information as you can about your family's medical history. Then, talk with your doctor or a genetic counselor about your personal and family medical history to better understand your risk. Ask questions and discuss any concerns about genetic testing at that meeting. Also, talk about your options, depending on the test results.

If you're being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to have genetic testing with your family. Having these conversations before testing can give you a sense of how your family might respond to your test results and how it may affect them.

Not all health insurance policies pay for genetic testing. So, before you have a genetic test, check with your insurance provider to see what will be covered.

In the United States, the federal Genetic Information Nondiscrimination Act of 2008 (GINA) helps prevent health insurers or employers from discriminating against you based on test results. Under GINA, employment discrimination based on genetic risk also is illegal. However, this act does not cover life, long-term care or disability insurance. Most states offer additional protection.

Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis.

The amount of time it takes for you to receive your genetic test results depends on the type of test and your health care facility. Talk to your doctor, medical geneticist or genetic counselor before the test about when you can expect the results and have a discussion about them.

If the genetic test result is positive, that means the genetic change that was being tested for was detected. The steps you take after you receive a positive result will depend on the reason you had genetic testing.

If the purpose is to:

Talk to your doctor about what a positive result means for you. In some cases, you can make lifestyle changes that may reduce your risk of developing a disease, even if you have a gene that makes you more susceptible to a disorder. Results may also help you make choices related to treatment, family planning, careers and insurance coverage.

In addition, you may choose to participate in research or registries related to your genetic disorder or condition. These options may help you stay updated with new developments in prevention or treatment.

A negative result means a mutated gene was not detected by the test, which can be reassuring, but it's not a 100 percent guarantee that you don't have the disorder. The accuracy of genetic tests to detect mutated genes varies, depending on the condition being tested for and whether or not the gene mutation was previously identified in a family member.

Even if you don't have the mutated gene, that doesn't necessarily mean you'll never get the disease. For example, the majority of people who develop breast cancer don't have a breast cancer gene (BRCA1 or BRCA2). Also, genetic testing may not be able to detect all genetic defects.

In some cases, a genetic test may not provide helpful information about the gene in question. Everyone has variations in the way genes appear, and often these variations don't affect your health. But sometimes it can be difficult to distinguish between a disease-causing gene and a harmless gene variation. These changes are called variants of uncertain significance. In these situations, follow-up testing or periodic reviews of the gene over time may be necessary.

No matter what the results of your genetic testing, talk with your doctor, medical geneticist or genetic counselor about questions or concerns you may have. This will help you understand what the results mean for you and your family.

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this disease.

Jan. 06, 2018

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Genetic testing - Mayo Clinic

Recommendation and review posted by Bethany Smith

New Jersey Stem Cell Therapy – Stem Cell Center Of NJ

COPD

Over 32 million Americans suffer from chronic obstructive pulmonary disease (also known as COPD). COPD is a progressive lung disease, however regenerative medicine, such as lung regeneration therapies using stem cells are showing potential for COPD by encouraging tissue repair and reducing inflammation to the diseased lung tissue.

Following up with stem cell therapy and exome therapy immediately in the first 36 to 48 hours after stroke symptoms surface has proven to be crucial to long-term recovery and regaining mobility again. Cell therapy also calms post-stroke inflammation in the body, and reduces risk of serious infections.

Parkinsons is a neurodegenerative brain disorder caused by the gradual loss of dopamine-producing cells in the brain. It afflicts more than 1 million people in the U.S., and currently, there is no known cure. Stem cell therapies have been showing incredible progress. Using induced pluripotent stem (iPS) cells, a mature cell can be reprogrammed into an embryonic-like, healthy and highly-functioning state, which has the potential to become a dopamine-producing cell in the brain.

A thick, full head of hair is possible, naturally! Stem cell and exosome therapy promotes healing from within to naturally stimulate hair follicles, which encourages new hair growth. Using your own stem cells, Platelet Rich Plasma (PRP) and exosomes, you can regrow your own healthy, thick hair naturally and restore your confidence!

Erectile Dysfunction (ED) is the inability to achieve or maintain an erection sufficient for satisfactory sexual intercourse. Regenerative medicine offers a non-surgical option that commonly uses the patients own stem cells, exosomes, and other sources of growth factors to regenerate healthy tissue to improve performance and sensation.

If chronic joint pain is derailing your active lifestyle, then youre not alone. Regenerative medicine offers a non-surgical option that commonly uses the patients own stem cells, exosomes, and other sources of growth factors to reduce inflammation, promote natural healing and regenerate healthy tissue surrounding the joint for relief.

Multiple Sclerosis (MS) affects 400,000 people in the U.S., and occurs when the body has an abnormal immune system response and attacks the central nervous system. Regenerative medicine now offers treatment for MS with stem cell therapy, which is an exciting and rapidly developing field of therapy. Stem cells work to repair damaged cells these new cells can become replacement cells to restore normal functionality.

Spinal cord injuries are as complex as they are devastating. Today, cellular treatments, usually a combination of therapies, such as stem cell, Platelet Rich Plasma (PRP) and exosome therapy with growth factors are showing promise in contributing to spinal cord repair and reducing inflammation at the site of injury.

If you have chronic nerve injury pain that doesnt fade, your health care provider may recommend surgery to reverse the damage. However, regenerative medicine offers a non-surgical option to repair damaged tissue and reduce inflammation at the site of injury. Stem cell therapy commonly uses the patients own stem cells, exosomes, and other sources of growth factors to regenerate healthy tissue.

Neuropathy also called peripheral neuropathy occurs when nerves are damaged and cant send messages from the brain and spinal cord to the muscles, skin and other parts of the body. Simply put, the two areas stop communicating. Stem cell and exosome therapies treat damaged nerves affected by neuropathy, and they have the ability to replicate and create new, healthy cells, while repairing damaged tissue.

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New Jersey Stem Cell Therapy - Stem Cell Center Of NJ

Recommendation and review posted by sam

Center for Gene Therapy :: The Research Institute at Nationwide …

The mission of the Center for Gene Therapy is to investigate and employ the use of gene and cell based therapeutics for prevention and treatment of human diseases including: neuromuscular and neurodegenerative diseases, lysosomal storage disorders, ischemia and re-perfusion injury, neonatal hypertension, cancer and infectious diseases.

Learn about our areas of focus and featured research projects.

The Center for Gene Therapy and the Viral Vector Core are home to a Good Manufacturing Practice (GMP) production facility for manufacture of clinical-grade rAAV vectors.

View the Viral Vector Core & Clinical Manufacturing Facility site.

TheOSU and Nationwide Children's Muscle Groupbrings together investigators with diverse research interests in skeletal muscle, cardiac muscle, and neuromuscular biology.

Hosted by Kevin Flanigan, MD,"This Month in Muscular Dystrophy" podcastshighlight the latest in muscular dystrophy and other inherited neuromuscular disease research.During each podcast, authors of recent publications discuss how their work improves our understanding of inherited neuromuscular diseases, and what their work might mean for treatment of these diseases.

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Nu You Med Clinic – Hormone Replacement Therapy Frankfort, KY

We started this clinic for natural hormone replacement in Frankfort, KY because my patients were fatigued with the lack of energy. They had loss of memory and difficulty thinking at times. They displayed irritability, anxiety, and depression-like symptoms. They were having decreased loss of muscle strength with joint pain. Along with these symptoms, they lacked sexual desire and performance. I knew their hormones were to blame but the medicines offered by the conventional medical community had potential side effects or even caused heart attacks, stroke, DVTs and cancer and I didnt really see them as effective.

I searched for a long time to find the right solution that would be safe for my patients, be effective and reverse all the symptoms they were experiencing. I found it in Human-identical Hormone Therapy or HRT for short. These hormones, along with some supplements, allowed my patients to regain energy and muscle strength while feeling younger and happier. They had increased mental clarity and ability to lose weight again. It restored or increased their sex drive and performance while decreasing their joint and muscle pain. Its been a great experience and we are just starting out. We are seeing people get theirlife back to want they want it to be. They are Living Happier and Aging Healthier.

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What is a Stem Cell Transplant (Bone Marrow Transplant)? | Cancer.Net

A stem cell transplant is a treatment for some types of cancer. For example, you might have one if you have leukemia, multiple myeloma, or some types of lymphoma. Doctors also treat some blood diseases with stem cell transplants.

In the past, patients who needed a stem cell transplant received a bone marrow transplant because the stem cells were collected from the bone marrow. Today, stem cells are usually collected from the blood, instead of the bone marrow. For this reason, they are now more commonly called stem cell transplants.

A part of your bones called bone marrow makes blood cells. Marrow is the soft, spongy tissue inside bones. It contains cells called hematopoietic stem cells (pronounced he-mah-tuh-poy-ET-ick). These cells can turn into several other types of cells. They can turn into more bone marrow cells. Or they can turn into any type of blood cell.

Certain cancers and other diseases keep hematopoietic stem cells from developing normally. If they are not normal, neither are the blood cells that they make. A stem cell transplant gives you new stem cells. The new stem cells can make new, healthy blood cells.

The main types of stem cell transplants and other options are discussed below.

Autologous transplant. Doctors call this an AUTO transplant. This type of stem cell transplant may also be called high-dose chemotherapy with autologous stem cell rescue.

In an AUTO transplant, you get your own stem cells after doctors treat the cancer. First, your health care team collects stem cells from your blood and freezes them. Next, you have powerful chemotherapy, and rarely, radiation therapy. Then, your health care team thaws your frozen stem cells. They put them back in your blood through a tube placed in a vein (IV).

It takes about 24 hours for your stem cells to reach the bone marrow. Then they start to grow, multiply, and help the marrow make healthy blood cells again.

Allogeneic transplantation. Doctors call this an ALLO transplant.

In an ALLO transplant, you get another persons stem cells. It is important to find someone whose bone marrow matches yours. This is because you have certain proteins on your white blood cells called human leukocyte antigens (HLA). The best donor has HLA proteins as much like yours as possible.

Matching proteins make a serious condition called graft-versus-host disease (GVHD) less likely. In GVHD, healthy cells from the transplant attack your cells. A brother or sister may be the best match. But another family member or volunteer might work.

Once you find a donor, you receive chemotherapy with or without radiation therapy. Next, you get the other persons stem cells through a tube placed in a vein (IV). The cells in an ALLO transplant are not typically frozen. So, doctors can give you the cells as soon after chemotherapy or radiation therapy as possible.

There are 2 types of ALLO transplants. The best type for each patient depends his or her age and health and the type of disease being treated.

Ablative, which uses high-dose chemotherapy

Reduced intensity, which uses milder doses of chemotherapy

If your health care team cannot find a matched adult donor, there are other options. Research is ongoing to determine which type of transplant will work best for different patients.

Umbilical cord blood transplant. This may be an option if you cannot find a donor match. Cancer centers around the world use cord blood.

Parent-child transplant and haplotype mismatched transplant. These types of transplants are being used more commonly. The match is 50%, instead of near 100%. Your donor might be a parent, child, brother, or sister.

Your doctor will recommend an AUTO or ALLO transplant based mostly on the disease you have. Other factors include the health of your bone marrow and your age and general health. For example, if you have cancer or other disease in your bone marrow, you will probably have an ALLO transplant. In this situation, doctors do not recommend using your own stem cells.

Choosing a transplant is complicated. You will need help from a doctor who specializes in transplants. So you might need to travel to a center that does many stem cell transplants. Your donor might need to go, too. At the center, you talk with a transplant specialist and have an examination and tests. Before a transplant, you should also think about non-medical factors. These include:

Who can care for you during treatment

How long you will be away from work and family responsibilities

If your insurance pays for the transplant

Who can take you to transplant appointments

Your health care team can help you find answers to these questions.

The information below tells you the main parts of AUTO and ALLO transplants. Your health care team usually does the steps in order. But sometimes certain steps happen in advance, such as collecting stem cells. Ask your doctor what to expect before, during, and after a transplant.

A doctor puts a thin tube called a transplant catheter in a large vein. The tube stays in until after the transplant. Your health care team will collect stem cells through this tube and give chemotherapy and other medications through the tube.

You get injections of a medication to raise your number of white blood cells. White blood cells help your body fight infections.

Your health care team collects stem cells, usually from your blood.

Time: 1 to 2 weeks

Where its done: Clinic or hospital building. You do not need to stay in the hospital overnight.

Time: 5 to 10 days

Where its done: Clinic or hospital. At many transplant centers, patients need to stay in the hospital for the duration of the transplant, usually about 3 weeks. At some centers, patients receive treatment in the clinic and can come in every day.

Time: Each infusion usually takes less than 30 minutes. You may receive more than 1 infusion.

Where its done: Clinic or hospital.

Time: approximately 2 weeks

Where its done: Clinic or hospital. You might be staying in the hospital or you might not.

Time: Varies based on how the stem cells are collected

Where its done: Clinic or hospital

Time: 5 to 7 days

Where its done: Many ALLO transplants are done in the hospital.

Time: 1 day

Where its done: Clinic or hospital.

You take antibiotics and other drugs. This includes medications to prevent graft-versus-host disease. You get blood transfusions through your catheter if needed. Your health care team takes care of any side effects from the transplant.

After the transplant, patients visit the clinic frequently at first and less often over time.

Time: Varies

For an ablative transplant, patients are usually in the hospital for about 4 weeks in total.

For a reduced intensity transplant, patients are in the hospital or visit the clinic daily for about 1 week.

The words successful transplant might mean different things to you, your family, and your doctor. Below are 2 ways to measure transplant success.

Your blood counts are back to safe levels. A blood count is the number of red cells, white cells, and platelets in your blood. A transplant makes these numbers very low for 1 to 2 weeks. This causes risks of:

Infection from low numbers of white cells, which fight infections

Bleeding from low numbers of platelets, which stop bleeding

Tiredness from low numbers of red cells, which carry oxygen

Doctors lower these risks by giving blood and platelet transfusions after a transplant. You also take antibiotics to help prevent infections. When the new stem cells multiply, they make more blood cells. Then your blood counts improve. This is one way to know if a transplant is a success.

It controls your cancer. Doctors do stem cell transplants with the goal of curing disease. A cure may be possible for some cancers, such as some types of leukemia and lymphoma. For other patients, remission is the best result. Remission is having no signs or symptoms of cancer. After a transplant, you need to see your doctor and have tests to watch for any signs of cancer or complications from the transplant.

Talking often with the doctor is important. It gives you information to make health care decisions. The questions below may help you learn more about stem cell transplant. You can also ask other questions that are important to you.

Which type of stem cell transplant would you recommend? Why?

If I will have an ALLO transplant, how will we find a donor? What is the chance of a good match?

What type of treatment will I have before the transplant? Will radiation therapy be used?

How long will my treatment take? How long will I stay in the hospital?

How will a transplant affect my life? Can I work? Can I exercise and do regular activities?

How will we know if the transplant works?

What if the transplant doesnt work? What if the cancer comes back?

What are the side effects? This includes short-term, such as during treatment and shortly after. It also includes long-term, such as years later.

What tests will I need later? How often will I need them?

If I am worried about managing the costs of treatment, who can help me with these concerns?

Bone Marrow Aspiration and Biopsy

Making Decisions About Cancer Treatment

Donating Blood and Platelets

Donating Umbilical Cord Blood

Explore BMT

Be the Match: National Marrow Donor Program

Blood & Marrow Transplant Information Network

U.S. Department of Health and Human Services: Understanding Transplantation as a Treatment Option

National Bone Marrow Transplant Link

Follow this link:
What is a Stem Cell Transplant (Bone Marrow Transplant)? | Cancer.Net

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Hypopituitarism – Symptoms, Causes, Diagnosis and Treatment – Prime Health Channel

[Total: 0 Average: 0/5] What is Hypopituitarism ?

Hypopituitarism refers to a rare clinical syndrome that is characterized by the low secretion of one or more hormones secreted by the pituitary gland. It is a condition primarily affecting the anterior lobe of the pituitary gland. The hormones that are produced by the pituitary glands and may be affected by hypopituitarism are Adrenocorticotrophic Hormone (ACTH), Antidiuretic Hormone (ADH), Follicle-Stimulating Hormone (FSH), Thyroid-Stimulating Hormone (TSH), Luteinizing Hormone (LH), Growth Hormone (GH) and Prolactin. When any one of these hormones is affected, one is considered to suffer from Partial Hypopituitarism and the case involving several hormones at a time is known as Panhypopituitarism. The German physician, Dr.Morris Simmonds can be credited to have detected and described the first such condition as early as 1914. Both children and adults may suffer from hypopituitarism which may be caused by a number of reasons affecting the pituitary glands. An underactive pituitary gland affects the normal body functions. One who is affected with hypopituitarism since birth or inherits the same, is said to suffer from congenital or postpartum hypopituitarism. However, like hypoparathyroidism, hypopituitarism is a disease that is most likely to last for life, so its treatment also lasts long.

The symptoms of hypopituitarism basically depend on the deficiency of a particular hormone secreted by the pituitary glands and its severity as well as the underlying cause responsible for it as. The signs and symptoms of hypopituitarism are usually subtle in nature but may also appear very suddenly.

In cases such as insufficient gonadotropins production that is actually secreted by the follicle-stimulating hormone and the luteinizing hormone, one may experience sexual problems such as hot flashes, infertility, impotence, loss of pubic hair, decreased sperm production, drying of the vagina, shriveling of the testes, amenorrhea or the absence of menstrual cycle in women and altogether a decreased sex drive. It may also cause osteoporosis in adults. The deficiency of such a hormone may be responsible for delaying puberty in children.

Insufficient production of the growth hormone caused by hypopituitarism in adults usually has no specific symptoms. But growth hormone deficiency may cause hypopituitarism dwarfism in children. This kind of specific hormone deficiency is more associated with people already suffering from tumor in the pituitary glands. One may suffer from the enlargement of the limbs or acromegaly, headaches, autoimmune inflammation of the pituitary glands or lymphocytic hypophysitis, and pituitary apoplexy or stroke.

The deficiency or the poor secretion of the TSH may be signaled by the gain or loss of weight, puffiness or the drying of the skin, sensitivity towards cold, constipation and even cretinism. The poor functioning of the pituitary glands to produce the ACTH or the prolactin results in low blood pressure, fatigue, stress, low blood sugar, anemia and the lack of production of breast milk in women after the birth of a child. On a more general sense, people with hypopituitarism may suffer from skin, nail and hair problems.

The causes of hypopituitarism are quite a few in number and also quite distinct by nature. The most common cause of hypopituitarism is the development of tumor in any of the pituitary glands. Such a condition is also known as pituitary adenomas in which case the normal tissues in the gland are compressed and it may also cause brain tumors, namely, craniopharyngiomas, glioma, chordoma, metastasis, ependymoma, and meningioma that are actually derivatives from pituitary gland problems. Cancer may also aggravate hypopituitarism.

Other common causes of hypopituitarism include hypophysis trauma, brain injury, ill effects of neurosurgical operations and ionizing radiation therapies to cure brain tumors and transsphenoidal adenomectomy.

Infections of the brain or the pituitary glands such as meningitis, brain abscess, syphilis, and encephalitis may also be responsible for causing hypopituitarism. Inflammatory diseases like amyloidosis and sarcoidosis are other causes of hypopituitarism. Diseases associated with infiltration by abnormal cells, histiocytosis and neurosarcoidosis may also be held responsible for hypopituitarism. Autoimmune diseases such as lymphocytic hypophysitis, empty sella syndrome that causes the disappearance of the pituitary tissues, and hemochromatosis or excessive iron content in the body may also be attributed to the occurrence of hypopituitarism.

Vascular hypopituitarism is a disease that affects pregnant women when their pituitary gland is harmed due to hemorrhage or infarction, or excessive bleeding following a delivery, a condition known as Sheehanss Syndrome. Pituitary apoplexy and strokes may also be held responsible for the same. On the other hand, congenital hypopituitarism is a disorder that affects a child since his/her birth. It may arise as a result of genetic complications or complications related to the birth. Certain specific gene mutations may cause the poor development of the pituitary glands to such an extent that they even be on the verge of dysfunction. The condition related to the insufficient development of the glands is called hypoplasia. Congenital hypopituitarism may also be caused by the Kallmann Syndrome which causes a deficiency of the sex hormones.

Certain other syndromes such as Prader-Willi and Biedl, chronic metabolic and autoimmune syndromes such as diabetes insipidus may also be responsible for causing hypopituitarism. Any other kind of damage to the nerves or the vessels by either internal or external factors may also cause the deficiency of the pituitary hormones.

Some of the symptoms of hypopituitarism are so obvious and serious that may facilitate the easy diagnosis of the disorder. But for discerning the exact reason behind hypopituitarism, one must go through the proper clinical tests, which shall help in the proper diagnosis of the ailment.

Blood tests are the most common form of clinical test that is beneficial in the proper diagnosis of just not hypopituitarism but for most of the diseases and disorders. The blood tests are usually of two types, namely, basal level tests and dynamic tests. Basal level tests have a specific timing for the collection of blood samples, mostly early morning when one is not stimulated before being injected. One the other hand, dynamic tests requires one to get injected by a stimulant before conducting the actual blood test. Basal level tests are conducted in the case of the measurement of the FSH, TSH and prolactin. Whereas, low levels of growth hormone and ACTH can be detected by the dynamic blood test.

Another way to detect the cause of hypopituitarism is to undergo an x-ray of the neck, hand or the wrist. This is a way most common in cases related to hypopituitarism in children. However, if this method does not prove to be helpful, one may take recourse to the other imaging tests such as CT scan or an MRI.

CT scan or Computed Tomography and MRI are non-invasive diagnosis procedures that helps to detect any kind of abnormality just not associated with the pituitary glands but the body as a whole.

In addition to these, vision tests are conducted specially on children to conform if hypopituitarism tumor has caused any kind of impairment to the eyes. Moreover, in case of congenital hypopituitarism, one may be asked to undergo a genetic test in order to discern the exact cause of hypopituitarism. Urine specific gravity test is used for patients with hypopituitarism and diabetes. All of these diagnostic procedures facilitate the treatment of hypopituitarism.

The treatment for hypopituitarism depends on the underlying cause of the disease that has been detected through the various ways of diagnosis. Some of the treatment methods that are adopted include medicines, drugs, hormone replacement therapy, and radiation therapy. Surgeries and radiation therapies are usually performed in case of pituitary tumors.

The hormone replacement medications perform the similar functions that insulin is supposed to perform in case of diabetes. Such medications help the pituitary glands to artificially produce the hormones that it is deficient in. Some of the most commonly prescribed medications are corticosteroids such as prednisone and hydrocortisone, levothyroxine like synthroid and levoxyl, desmopression, sex hormones, namely, testosterone, progesterone and estrogen, and artificial growth hormones like the somatropin. Corticosteroids help in making up for ACTH deficiency, Levothyroxines help in replacing deficient TSH. Desmopression (DDAVP) or Vasopressin helps in the case of ADH deficiency and also to treat diabetes insipidus. The sex hormones are administered either through the skin to compensate for the deficiency of sex hormones in case of hypopituitarism. In fact, in case of severe hypopituitarism due to FSH and LH deficiency, one may have to be administered gonadotropins to stimulate the production of the sex hormones. The artificially produced growth hormones help in raising the height of children who had to suffer from a stunted growth due to hypopituitarism.

A surgery is usually conducted if one detects a tumor in the vicinity of the pituitary glands. Radiation therapies also serve the purpose of damaging the tumor through powerful radiations.

However, hypopituitarism is a disorder from which one cant escape till ones death. So, one need to go through routine tests in order to monitor the effects of the disorder and take precautions to thwart away the complications involved with hypopituitarism. So, undertaking the treatment for hypopituitarism under the supervision of an endicronologist is the best way to keep it on tabs.

References :

Wikipedia

http://www.emedicinehealth.com

http://www.mayoclinic.com

More:
Hypopituitarism - Symptoms, Causes, Diagnosis and Treatment - Prime Health Channel

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PPT Bone Marrow Transplantation Stem Cell Transplantation PowerPoint …

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PPT Bone Marrow Transplantation Stem Cell Transplantation PowerPoint ...

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