Archive for January, 2022

CAR-T cell therapy has been a boon for treating blood cancers. Since the technology was first brought to the clinic, CAR-T has offered patients months or years of life after they had exhausted all other treatment options and would have died within weeks.

Its been incredible, said Marcela Maus, an immunologist and cell therapist at Mass General Cancer Center. Weve seen patients who had multiple lines of therapies and progressed after all of those, [then] get CAR-T and go into long-term remission.

But CAR-T does have hefty limitations, and scientists like Maus are researching ways to overcome some of its major shortcomings. These issues have prevented CAR-T from being used safely and effectively outside of leukemia and myeloma, and even patients who have responded spectacularly to CAR-T usually see their cancers return. The therapies are also still incredibly costly and carry risks, including a reaction known as a cytokine storm that can be life-threatening.

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Potential solutions to these problems are still in the early stages, but scientists are beginning to get a vision of what the future of CAR-T cell therapy might look like. It could involve synthetic biology to engineer a more advanced cell, or engineering other parts of the T cell to make it work better in the challenging environment around a tumor.

The field is growing tremendously, Maus said. Different people are working on different issues then, ideally, the data kind of decides whats going to be the next big thing.

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Heres a look at what experts see as some of the most promising approaches.

Current CAR-T cells use their CAR, or chimeric antigen receptor, to identify and kill cancer cells. These are synthetic proteins that bind to a specific target, like a protein on a cell surface membrane, and then activate the T cell to kill any cell carrying this target.

Armed with a CAR, T cells become pros at killing cancer cells that have their target, but theyll also kill normal cells that happen to carry the protein, too. Once a CAR-T cell is in the body, there isnt much a clinician can do to rein it in if it starts causing a lot of toxicity.

Once we let the CAR out, theyre like teenage kids, Maus said. You can maybe watch, but you cant really control them. So, theres some desire to be able to turn them on or off at will.

So, researchers are also trying to create CAR-T cells that they can manually activate or deactivate. As a group, these are known as controllable CARs, and most work by engineering an additional genetic circuit in the CAR-T cell. In theory, clinicians should be able to activate a switch on the genetic circuit that induces the CAR-T cell to activate their CAR and express it on the T cells surface membrane, thereby activating the receptor. Then, after a while, the T cell will disarm.

The goal is really getting our hands back on the steering wheel for a bit, Maus said.

There are several ways that synthetic biologists are doing this. In one example, researchers engineered a CAR with a protein switch that activates the receptor in the presence of blue light. In another example, researchers added a gene to CAR-T cells that force it to create its CAR and express it on the cell surface, thereby activating it, only in the presence of ultrasound radiation.

That way, it can be focused into a specific location, said Peter Yingxiao Wang, a synthetic biologist at University of California, San Diego, who works on controllable CARs. When the light or ultrasound is on the tumor locally, they can activate the CAR gene to trigger killing. Anywhere else, the CAR T-cells will be benign.

The idea is that the clinician can focus the light or ultrasound onto the tumor to get CAR-T cells to begin killing there. Once that signal is turned off, the CARs should disarm or slowly degrade and deactivate the CAR-T cells killing function. This way, even if the CAR does kill healthy tissue, the damage will theoretically be limited to the area around the tumor.

But this is an infant field right now, Wang added. A lot of these studies are just proof of concepts to show that theyre technically achievable. If you want to move to clinical trials, all of the components must be optimized.

Scientists also must show that theyre truly safe in humans, and that keeping the damage to a smaller surface area will be enough to outweigh the risks in treating tumors located near vital organs like the heart.

Other researchers are working on developing new CARs that can function like a biomolecular computer, able to make simple logical decisions to target cancer cells. Conventional CARs can cause dangerous toxicity because they only use one protein to identify cancer cells, and it may be impossible to discover the perfect target that exists only on cancer cells and not at all on healthy cells.

You can never uniquely define cancer or any other healthy tissue just by one marker, explained Wilson Wong, a synthetic biologist at Boston University. It just doesnt work. Its like trying to find a person and saying, he has black hair. Its like, oh, my God, youll never find him.

But it might be possible to distinguish cancer cells from healthy ones by looking at multiple proteins on a single cell. So, researchers like Wong have begun building more advanced CAR T-cells that use genetic circuits that only activate a CAR under more complex conditions, like the presence of several specific proteins that arent often seen in combination on healthy cells.

In this sense, the CAR is making a logical decision like basic Boolean computing, and synthetic biologists call this technique logic-gating.

Theres a lot of cool genetic circuits you can build, said Yvonne Chen, a synthetic biologist at UCLA. One can think of conditional systems to obliterate cancer cells. One can build OR-gates, AND-gates, and NOT-gates, and layer them on top of one another.

Although, Chen added, a drawback of logic-gating is that by increasing the complexity of the system, you might also be increasing the chance something goes wrong. Its important not to overcomplicate the design. Sophisticated circuits are exciting, but sometimes the solution itself causes problems. For example, for an AND-gate, you also make it easier for the tumor to escape. If the tumor loses either target A or B, it escapes from therapy, she said.

Another issue with conventional CAR-T therapy is that after a while, T cells can simply stop working. Solid tumors, like lung or pancreatic cancer, often have strategies to defend themselves from immune system attacks, including those from CAR-T cells. That makes it harder for CAR-T cells to treat solid tumors and can provide an opening for the tumor to return or progress.

So, researchers like Chen are working on armoring the CAR T-cell against the hostile signals in the microenvironment around a solid tumor. One of these signals is called TGF-beta, a protein which can help shut down T cell activity and help cancer cells avoid death and detection from the immune system. Chen was able to create a CAR cell that is not only resistant to TGF-beta, but can actually subvert the signal and become more deadly when it encounters TGF-beta.

Instead of being dysfunctional, they become activated, Chen said. That actually converts a tumor defense mechanism into a stimulatory signal for our T cells and tells them, youre in an environment where youre likely to encounter a tumor cell. Get ready.

Other scientists are working to keep CAR-T cells which can lose power over time functional for longer. Even with a good antigen, the T cells rapidly lose function, said Shivani Srivastava, an immunologist at the Fred Hutchinson Cancer Research Center who works on this problem. If you trigger a T cell or CAR over and over again, that causes the cell to become exhausted rather than turning into a memory cell or something else.

In one case, Stanford immunologist Crystal Mackall engineered a CAR-T cell that takes breaks before returning to work. She did this by creating a transient CAR that can be turned on or off. It can enhance [the T cells] function and limit how exhausted they are by giving them periodic rest, Srivastava said. Thats a really interesting strategy in principle.

But most of the tactics that scientists have tried so far in the realm of armored CAR-T cells havent worked in the long term, Srivastava said. You need a strategy that can help the CAR T-cells persist long enough to eradicate the cancer and prevent its return, which might be a lifelong project for the immune system.

Well have to find the right combination that will be durable, she said. Often we can find strategies that enhance function for only a short period of time.

Some future approaches might see T cells abandoned altogether. Scientists are slapping synthetic receptors on new or different cell types, such as natural killer cells. One company, called CoImmune, is putting CARs on a synthetic cell called a CIK cell, or cytokine-induced killer cell.

This is a novel cell type. They dont occur in nature, explained Charles Nicolette, the biotechs chief executive.

Theyre made by taking white blood cells and growing them while exposing them to certain immune molecules called cytokines. The advantage of creating new cell types is that biologists can combine certain useful traits from other immune cells, Nicolette said. For example, CIK cells could have the NK cells natural ability to distinguish normal cells from malignant ones and the CAR T-cells enhanced ability to kill.

One day, UCLAs Chen hopes to take this concept even further. To her, the ideal cancer-killing cell would not be derived from anything biological, but a completely artificial cell.

Instead of taking a cell from a patient, but rather build a completely defined, minimal cell that can do what we want and nothing else. It cannot evolve. Cannot mutate. Then, self-destruct when you dont want it there, she said. But, she added, creating synthetic cells like that would be unimaginably challenging, and it might not be possible to create a cell thats both persistent but also unchangeable.

Still, a scientist can dream.

Read more:
STAT's guide to the next generation of CAR-T therapies - STAT

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Cancer Gene Therapy Market 2021 Industry Outlook, Comprehensive Insights, Growth and Forecast 2031 | Celgene, SIBIONO, Anchiano Therapeutic, Achieve...

Just like at last year'sJ.P. Morgan Healthcare Conference,M&A is so 2019.

In the third winter of COVID-19, the drug development world hasnt executed on the type of megamergers we saw in 2019, such as Bristol Myers Squibbs $74 billion Celgene deal,which dropped in the lead-up to the healthcare industry's largest gathering.

Of course, we don't know whats happening in private Zoom rooms at the moment, or who managed to make some company-defining contacts at the second virtual edition of the conference.

Galapagos, with $5.6 billion to spend and a thinned late-stage pipeline, made it known Thursday morning that there are, in fact, private Zoom meetings to hash out potential acquisitions. The biopharmas chief business officer wasnt shy to say Galapagos is speaking with a host of companies as the company works on a rebound for 2022.

RELATED:2022 forecast: Biopharma M&A lags in 2021. Will drugmakers still look for bolt-on deals or large transactions?

But what was made public is that biopharmas stuck to licensing and research partnerships this week at JPM, extending a trend that has been going on for months. Backloaded, billion-dollar biobucks pacts are increasingly standard.

This year, I think, is a reflection of last year, and its much more licensing, much more tie-up, said Stuart Henderson, global life sciences industry leader at Accenture, in an interview with Fierce Biotech.

There are a few key factors driving the focus on licensing and collaborations, according to Henderson.

Premiums on acquisitions have increased, thus limiting affordability; venture capital funding has skyrocketed three times in the past five years, reducing the need for pharmas money; biotechs are going all the way to market on their own with tighter labels and more defined populations, shrinking the need for pharmas help in selling drugs; and the economic value of Big Pharma buying a late-stage biotech has declined, he said.

The virtual conference started with multiple licensing and research handshakes revealed Monday morning. Bayer kicked off the week with a $1 billionbiobucks beton a gene therapy deal with Mammoth, using the CRISPR science out of the lab of Jennifer Doudna, Ph.D.

RELATED:JPM22, Day 3: In short order, Perrigo part of a new landscape; Legend, J&J prep for cilta-cel launch

Next up was Novartis,ponying up$163 million to opt in on a COVID-19 antiviral after its collaborator Molecular Partners showed a 78% risk reduction in early-stage patients. Then, Pfizerdoled out$300 million upfront for Beam Therapeutics base editing technique. The COVID-19 vaccine maker madeanother two dealsMonday morning, including a financials-free agreement with Acuitas Therapeutics for its lipid nanoparticle delivery system for use in mRNA vaccines and therapies. Add to that a $100 million biobucks pact with Codex DNA.

This was allbefore 7 a.m. ET on Monday. Pfizers pandemic rival, Moderna, made some waves with its owndevelopment dealat $45 million upfront for Carisma Therapeutics in vivo engineered chimeric antigen receptor monocyte therapeutics in cancer. BioNTech followed with a $750 million milestone paymentspactwith Crescendo Biologics; Bristol Myers Squibb offered awhopping $3 billionin biobucks for cell therapies from Century Therapeutics; and Acadia was stoked tosigna $60 million upfront tie-up with Stoke Therapeutics.

Thats at least nine collaboration and licensing deals in the first day. You get the pattern. It was medtech that brought the M&A: Medtronicoffered$925 million for cardiac mapper Affera, and Exact Sciences willspend $190 millionon testing lab PreventionGenetics.

Henderson said some of the biotechs attracting licensing interest are those with platform technologies and digital biology companies that are attempting to cut the billion-dollar costs of drug discovery and development.

RELATED:JPM22, Day 4: Vertex aims to be cystic fibrosis leader into the 2030s; Gritstone hopes for new cancer biomarker; Galapagos' rebound year

The licensing announcements have slowed since those first days. But could that meanarms will be linked in coming weeks, as final negotiations are hashed out and due diligence is conducted? We hope so.

We know pharma is looking. Plenty of companiesPfizer, Moderna, BioNTech, Novartis and many morehave cash burning a hole in their pockets and pipelines to fill.

Read more:
JPM 2022: Licensing and research tie-ups trump M&A at conference in 'reflection of last year' - FierceBiotech

The evolution of advanced therapy medicinal products, or ATMPs, is bringing real world results, write James Fry, partner, and Isabel Teare, senior legal adviser from leading law firm Mills & Reeve.

The number of cell and gene therapy products now on the market around the world is near the 100 mark, according to recent research by McKinsey & Company, with many more in development.

These ground-breaking therapeutics can have a profound impact on previously intractable conditions. Products like Novartiss gene therapy Zolgensma, for example, are costly but have the potential to act as a single-dose cure for young patients with spinal muscular atrophy.

London-based Orchard Therapeutics has had some important wins with its ex vivo autologous gene therapy approach, as it seeks to address multiple therapeutic areas with profound unmet need.

The UKs powerful research base and established life sciences sector means that it is well placed to be part of this story. The Cell and Gene Therapy Catapult reports that, in 2020, the UK was host to around 12 per cent of ongoing ATMP global clinical trials some 154 separate studies. A striking statistic.

As more products are rolled out to patients, the journey for others both in overcoming technical obstacles and gaining public acceptance improves. But in the global race to bring these sophisticated products through from concept to clinic, some specific challenges stand in the way.

One of these is the need for a different style of regulatory engagement. The traditional methods used by regulators in dealing with small molecule pharmaceuticals show major limitations when applied to ATMPs.

Regulators have many years of in-depth experience with small molecule medicines. This can mean that regulatory guidance focuses on this section of the market and tends to be prescriptive in nature.

In contrast, regulation of large molecule, cell and gene therapies should, say those close to the industry, be based more on a philosophy rather than prescriptive rules, and should allow a greater degree of flexibility.

To remain at the forefront of this exciting sector, rapid technological progress needs to be matched by a surefooted regulatory response. With many ATMP projects created in the hands of smaller spin-outs or growing mid-sized companies there is no spare cash or capacity for mistakes.

Developers and regulators need to work together to make sure that safe and effective therapies can reach the patients that so badly need them.

A collaborative approach

Developers of innovative therapies can gain real benefits from early and regular engagement with regulatory agencies. The aim here is to smooth the product development path and, at the same time, avoid wasted effort and expense.

With development costs high, collaboration is a must to drive down complexity and uncertainty. The pressures of COVID-19 pandemic may have helped in strengthening the collaborative approach between regulators and developers, and many hope to see these changes embedded in day-to-day practice.

Think holistically

Regulatory strategy needs to form part of the overall development picture. For example, the shelf-life of ATMPs, and also their starting materials, can be very short.

Building an understanding of the practical issues into the supply chain is essential. Issues around cross-border transfers with possible delays for customs checks can seriously undermine the business model for this generation of products.

Likewise, point of care manufacturing may be a necessary element of treatment something regulators may allow for if they appreciate its importance.

New ways to shape clinical trials

Designing clinical trials of ATMPs to make sure that they are not excessively cumbersome or open-ended requires early planning and engagement.

Regulators are working on tools that can help innovators in this area, such as novel trial structures like basket or umbrella trials.

These can be deployed to evaluate multiple hypotheses with the overall goal of improving the efficiency of trial evaluation.

As clinical development progresses it may become necessary to adapt the trial, and regulators need to recognise this. Long term follow-up may also be necessary.

Regulators learning from each other

With advanced therapies setting new challenges, developers can take heart from seeing regulators learning from each other and sharing lessons internationally.

Many products in this area address rare diseases, so a coordinated approach makes sense in serving a group of patients spread around the world.

Likewise, regulators can benefit from looking to novel examples elsewhere.The Japanese authorities offer a special conditional approval that looks at safety and predicted efficacy, before allowing products a provisional authorisation for the market. This enables treatment availability to patients for a number of years during which evidence to establish efficacy is gathered.

An unexpected benefit

The COVID-19 pandemic, while stretching healthcare provision to its utmost, has had some positive impacts. Widespread recognition of the importance of life science innovation is one.

But accelerating new approaches and ways of working with and between regulators is another less obvious benefit. We have looked at how this can strengthen and support cell and gene therapy development and are optimistic that these changes are here to stay.

And the UK governments recent Life Sciences Vision shows a real commitment to pushing through in many of these areas.

View post:
Cell and gene therapies: How to encourage and promote the move to market - Business Weekly

Researchers atUniversity Health Network (UHN) and the University of Toronto have received $24 million to advancetechnology to repair and rebuild organs outside the bodyfor patients in need.

The project, led byShaf Keshavjee, is one of only seven across Canada selected to receive funding in the Government of CanadaNew Frontiers in Research Fund(NFRF) Transformation competition, following an international consultation.

"The Ex Vivo Lung Perfusion (EVLP) system we developed here in Toronto has revolutionized lung transplantation in the past decade. Now, it's been translated around the world to increase lung transplant access and it's being extended to other organs," says Keshavjee, a professor and vice-chair for innovation in thedepartment of surgeryin U of Ts Temerty Faculty of Medicinewho is surgeon-in-chief at UHN and a senior scientist atToronto General Hospital Research Institute.

"With this transformative grant, we now have the opportunity to take ex vivo technology to the next level, where we can repair and rebuild organs for transplant."

Atul Humar, director of the AjmeraTransplant Centre(photo byTim Fraser)

Over 4,500 people in Canada are currently waiting for an organ transplant, and more than 270 die each year as the need for transplant greatly exceeds availability.

Ex vivo perfusion systems use specialized machines to maintain, evaluate and treat organs before transplant. They have a huge impact on increasing the number of organs that can be considered for transplant.

TheToronto Lung Transplant Program,led by Keshavjee, has used this technology to double the number of lung transplants performed and lives saved at UHN.

"The New Frontiers grant will allow us to advance applications for lungs and further develop ex vivo systems for other organs, such as liver, kidney, heart and pancreas," says Atul Humar, a co-principal investigator on the project, professor in thedepartment of medicineat U of T and director of theAjmera Transplant Centre at UHN.

Brad Wouters, UHN's executive vice president, science and research, notes that this major grant will enable multidisciplinary teams to develop new, cutting-edge approaches to extend the time that donated organs can be used, and also enable treatment and repair of unsuitable organs to allow treatment of more patients.

It will also help the teams refine and improve equitable organ allocation guidelines for all patients, he adds.

The advancements that this team has made and their continued success is made possible by support from provincial and federal governments, industry partners, external charitable agencies, generous philanthropy from the UHN Foundation and our incredible patient partners, says Wouters, who is also a professor in thedepartment of radiation oncologyat U of T. This award recognizes the tireless efforts of the team, and this support, which have been key to achieving global impact.

The New Frontiers Research Fund was designed to support large-scale, Canadian-led interdisciplinary research projects with the potential to realize real and lasting change.

The fund falls under the strategic direction of theCanada Research Coordinating Committeeand is administered by the Tri-Agency Institutional Programs Secretariat on behalf of Canada's three research granting agencies: theSocial Sciences and Humanities Research Council, theCanadian Institutes of Health Researchand theNatural Sciences and Engineering Research Council.

Over the course of this project, the team of over 20 researchers at U of T, UHN, national and international partner sites will develop sophisticated ex vivo platforms to:

Longer ex vivo preservation prior to transplant will enable many world-first therapeutic applications that will, ultimately, create more organs for clinical transplant.

One example is to use gene therapy to make an organ more like the recipient's cells and help to address the current hurdle of organ rejection by the immune system. Researchers at UHN are also working on changing an organ's blood type so the sickest people can get access to the next available organ, instead of waiting for one that exactly matches their blood a delay that currently can take several months before a match is found.

Another transformative goal is to use medicines and light therapies in the ex vivo circuit to eliminate viral or bacterial infections that previously prevented an organ to be considered for transplant.

"This grant gives us a unique opportunity to extend personalized medicine to every organ group," saysMarcelo Cypel, a professor in the department of surgery at U of T and surgical director of the Ajmera Transplant Centre, who is also a co-principal investigator on the project.

"Not only will it enable longer preservation, this research will let us treat and improve organs. It has the potential to change the paradigm in the field of transplantation."

The change will include several advanced applications, such as the engineering of new organs using stem cells with the goal to make organs available for all in need. Significant progress has already been made in generating new kidneys, lungs and tracheae (windpipe), and their applications will be tested further during the six-year project term.

With the involvement of a multidisciplinary team housed in a world-class centre at UHN, the project will bring personalized medicine to transplant, and go beyond solid organs.

Siba Haykal, plastic and reconstructive surgeon and project co-principal investigator, will lead research involving vascularized composite allotransplantation the transplant of limbs, face, trachea and composite tissues, such as skin and muscles.

"These are very delicate tissues that can't survive outside the body for very long and are very susceptible to rejection," she explains, adding that the current treatment involves high doses of life-long anti-rejection medication for transplant recipients.

Haykal and the team want to develop a system to preserve limbs and tissues out of the body without blood flow for longer periods. This will enable the application of new cell therapies to adapt these tissues to the recipient prior to surgery.

"Whether they have been disfigured by burns or from trauma or cancer, if they've had an amputation and need prosthetic limbs or if they require a new airway, transplantation provides hope for these patients who currently don't have many options," says Haykal, who is an assistant professor in the department of surgery at U of T.

"If we can use techniques that reduce the amount of anti-rejection medication and maybe one day get to a stage where they don't need it anymore, that would have a huge impact on the patient's quality of life."

Humar adds, "I have seen so many people who have literally been at death's door and have been completely turned around by transplant and live a full and healthy life. If we can offer that to more patients, then for me that would be an incredible achievement.

"This funding will also help us disseminate our knowledge, and facilitate other hospitals across Canada and around the world build upon what we're doing at UHN."

This story wasoriginally postedon the University Health Network website.

Continue reading here:
UHN and U of T receive $24-million federal grant for transplant research - News@UofT

NEW YORK, Jan. 10, 2022 /PRNewswire/ --Reports and Data has published its latest report titled "Stem Cells Market By Product (Adult Stem Cells, Human Embryonic Stem Cells, IPS Cells, and Very Small Embryonic-Like Stem Cells), By Technology (Cell Acquisition, Cell Production, Cryopreservation, and Expansion & Sub-Culture), By Therapies (Allogeneic Stem Cell Therapy and Autologous Stem Cell Therapy), and By Application (Regenerative Medicine and Drug Discovery & Discovery), and By Region Forecast To 2028."

According to the latest report by Reports and Data, the global stem cells market size was USD 10.13 billion in 2020 and is expected to reach USD 19.31 Billion in 2028 and register a revenue CAGR of 8.4% during the forecast period, 2021-2028.

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Drivers, Restraints, & Opportunities

Stem cells are cells that have the potential to differentiate into different types of cells in the body. Stem cells have the ability of self-renewal and differential into specialized adult cell types. Stems cells are being explored for their potential in tissue regeneration and repair and in treatment of chronic diseases. Increasing number of clinical trials are underway to assess and establish safety and efficacy of stem cell therapy for various diseases and disorders. Rapid advancement in stem cell research, rising investment to accelerate stem cell therapy development, and increasing use of stem cells as therapeutic tools for treatment of neurological diseases and malignancies are some key factors expected to drive market revenue growth over the forecast period. in addition, growing incidence of type 1 diabetes, spinal cord injuries, Parkinson's diseases, and Alzheimer's disease, among others have further boosted adoption of stem cell therapies and is expected to fuel revenue growth of the market going ahead.

Stem cells are basic cells in the body from which cells with specialized functions are generated such as heart muscle cells, brain cells, bone cells, or blood cells. Maturation of stem cells into specialized cells have enabled researchers and doctors better understand the pathophysiology of diseases and conditions. Stem cells have great potential to be grown to become new tissues for transplant and in regenerative medicine. Stem cells that are programmed to differentiate into tissue-specific cells are widely being used to test new drugs that target specific diseases, such as nerve cells can be generated to test safety and efficacy of drugs that are being developed for nerve disorders and diseases. Stem cells are of two major types: pluripotent cells that can differentiate into any cells in the adult body and multipotent cells that are restricted to differentiate into limited population of cells. Increasing clinical research is being carried out to advance stem cell therapy to improve cardiac function and to treat muscular dystrophy and heart failure. Recent progress in preclinical and clinical research have expanded application scope of stem cell therapy into treating diseases for which currently available therapies have failed to be effective. This is expected to continue to drive revenue growth of the market going ahead.

However, immunity-related concerns associated with stem cell therapies, increasing incidence of abnormalities in adult stem cells, and rising number of ethical issues associated with stem cell research such as risk of harm during isolation of stem cells, therapeutic misconception, and concerns surrounding safety and efficacy of stem cell therapies are some key factors expected to restrain market growth to a certain extent over the forecast period.

To identify the key trends in the industry, research study at https://www.reportsanddata.com/report-detail/stem-cells-market

COVID-19 Impact Analysis

Rising use of Human Embryonic Stem Cells in Regenerative Medicine to Drive Market Growth:

Human embryonic stem cells (ESCs) segment is expected to register significant revenue growth over the forecast period attributable to increasing use of human embryonic stem cells in regenerative medicine and tissue repair, rising application in drug discovery, and growing importance of embryonic stem cells as in vitro models for drug testing.

Cryopreservation Segment to Account for Largest Revenue Share:

Cryopreservation segment is expected to dominate other technology segments in terms of revenue share over the forecast period. Cryopreservation techniques are widely used in stem cell preservation and transport owing to its ability to provide secure, stable, and extended cell storage for isolated cell preparations. Cryopreservation also provides various benefits to cell banks and have numerous advantages such as secure storage, flexibility and timely delivery, and low cost and low product wastage.

Regenerative Medicine Segment to Lead in Terms of Revenue Growth:

Regenerative medicine segment is expected to register robust revenue CAGR over the forecast period attributable to significant progress in regenerative medicine, increasing research and development activities to expand potential of stem cell therapy in treatment of wide range of diseases such as neurodegenerative diseases, diabetes, and cancers, among others, and rapid advancement in cell-based regenerative medicine.

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North America to Dominate Other Regions in Terms of Revenue Share:

North America is expected to dominate other regional markets in terms of revenue share over the forecast period attributable to increasing adoption of stem cell therapy to treat chronic diseases, rising investment to accelerate stem cell research, approval for clinical trials and research studies, growing R&D activities to develop advanced cell-based therapeutics, and presence of major biotechnology and pharmaceutical companies in the region.

Asia Pacific Market Revenue to Expand Significantly:

Asia Pacific is expected to register fastest revenue CAGR over the forecast period attributable to increasing R&D activities to advance stem cell-based therapies owing to rapidly rising prevalence of chronic diseases such as cancer and diabetes, rising investment to accelerate development of state-of-the-art healthcare and research facilities, establishment of a network of cell banks, increasing approval for regenerative medicine clinical trials, and rising awareness about the importance of stem cell therapies in the region.

Major Companies in the Market Include:

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Market Segmentation:

For the purpose of this report, Reports and Data has segmented the stem cells market based on product, technology, therapies, application, and region:

Product Outlook (Revenue, USD Billion; 2018-2028)

Technology Outlook (Revenue, USD Billion; 2018-2028)

Therapy Outlook (Revenue, USD Billion; 2018-2028)

Application Outlook (Revenue, USD Billion; 2018-2028)

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Regional Outlook (Revenue, USD Billion, 2018-2028)

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Originally posted here:
Rising Focus on Exploring Potential of Stem Cells as Therapeutic Tools in Drug Targeting and Regenerative Medicine to Fuel Revenue Growth of Stem...

Robert Russell| Special to the Times

Recently on CBS Mornings, host Tony Dokoupil, presented a story about dogs. An experiment aimed to see if dogs could distinguish between their owners native tongue and a foreign language. The experiment used brain scan technology, and sure enough, different parts of their brains activated based on whether they were familiar with the spoken language or not.

Dogs are mans best friend, or so they say. According to James Gorman, of the New York Times Magazine of October 4, 2021, all dogs are descended from the first dogs, just as all humans can trace their ancestry to the first Homo sapiens." Thus, none of us, or our dogs, have a more ancient ancestry than any other. Breeding led some dogs to be big and black, some small and white, some are strong, and some run fast.

Dogs were prized early on for their sense of smell, and with proper husbandry, they developed the genetics and physiology to make them sniffing machines.

Dogs have genes that improve olfactory ability, and more olfactory nerve cells than humans do. In addition, for centuries now, the Gentry have taken advantage of this intense sense of smell and sharp vision, to hunt prey and search for specialty items like truffles.

Today law enforcement uses dogs to locate drugs, like marijuana. Dogs have absolutely no interest in drugs, but they do enjoy games with a handler. Their training has led them to associate a toy, with the scent of various drugs. Trainers play a vigorous game of tug-of-war with dogs and a favorite towel. To begin the training, they play with a carefully washed unscented towel.

Later play involves a target substance hidden inside the towel. After playing, the dog starts to recognize that as that of his favorite toy. The trainer hides the towel, with the drugs, in typical places, and with the odor identified, he points, to get at the toy. The reward is a game of tug-of-war. Commercially the wine industry is working with dogs to identify spoiled corks and wines with various chemical compounds. They can even detect flaws in the oak barrels and corks, which lead to faults like TCA, VA, and Brett. In another use, a wine festival recently used dogs to sense attendees infected with COVID-19.

Dogs can detect many human diseases. This learning and evolving are not just improving animal skills; they can save lives.

Through human evolution, male eyes are sensitive visually to small details and moving objects, while women are more aware of color changes, according to a vision study, in The Journal of Biology and Sex Differences, referenced in this column a few years ago, noting that women see things differently. Women seem to have a superior tasting and visual skills, on average, to those of men. Since the genes of retinal cone cells are responsible for color perception, they are located on the X-chromosome, and women have two X-chromosomes-this all makes sense.

Secondly, the literature finds that in most cases females had better sensitivity, and discriminated and categorized odors better than males, as this writer can personally attest. Ancient humans lived as hunter-gatherers. Men predominately were the hunters while women were gatherers. Being a successful hunter does not require being good at smelling and tasting, but being, a successful gatherer of plant-based foods does. If you gather fruits and seeds, you need to be good at discriminating poisonous or spoiled foods, from nonpoisonous or fresh ones. Thus, men that did not hunt well, and women that did not taste and smell well, evolutionarily eliminated from the herd.

According to Mia Rozenbaum, at Understanding Animal Research, Dogs have about 220 million scent receptors humans only have 5 million. Dogs have smell receptors 10,000 times more accurate than humans, she notes their nose is powerful enough to detect substances at concentrations of one part per trillion - a single drop of liquid in 20 Olympic-size swimming pools. Dogs can detect cancer by smell, and sniff out a variety of types including skin cancer, breast cancer and bladder cancer using samples from known cancer patients, and people without cancer.

In a 2006 study, five dogs were trained to detect cancer based on breath samples. Once trained, the dogs were able to detect breast cancer with 88 percent accuracy, and lung cancer with 99 percent accuracy. They could do this regardless of the stage of the disease. More recently, a study has even shown that dogs can use their highly evolved sense of smell to pick out blood samples from people with cancer, with almost 97 percent accuracy.

Besides cancer and malaria, dogs can also detect Parkinson's disease, with a myriad of other studies now underway. Perhaps dogs may soon be the winemakers best friend, or so this writer says.

Stay healthy, and Cheers!

You can contact Robert Russell at rob@rlr-appraisals.com.

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Robert Russell: We have gone to the dogs - Shreveport Times

SAN DIEGO, Jan. 10, 2022 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (BNGO), pioneer of optical genome mapping (OGM) solutions on the Saphyr system and provider of NxClinical, the leading software solutions for visualization, interpretation and reporting of genomic data, hosted today the first of four days of 2022 Symposium, the Companys premiere event showcasing OGM research applications across key clinical areas of constitutional genetic disease, hematologic malignancies, solid tumors and OGM combined with next-generation sequencing (NGS).

Six presentations from leading researchers across North America and Europe kicked off Symposium. Todays event featured six informative speakers from leading researchers across North America and Europe. These presentations covered a wide range of constitutional genetic diseases in pre- and postnatal genetics and offered insight into potential applications in infertility and reproductive medicine. The presenters supported OGM as an effective alternative to traditional workflows such as karyotype, fluorescent in situ hybridization (FISH), chromosomal microarray (CMA) and Southern blot. Research presentations have demonstrated greater sensitivity, better resolution and faster results from OGM workflows compared to traditional methods.

Performance of OGM evaluated in pre- and postnatal samples. Both Dr. Iqbal from University of Rochester Medical Center and Dr. Shirley Heggarty compared the performance of OGM in the evaluation of pre- and postnatal samples with known chromosomal aberrations. These studies found a high concordance of OGM results compared to traditional methods. In addition, OGM was able to identify both unbalanced structural chromosome abnormalities and balanced structural variants (SVs), like translocations and inversions, that chromosomal microarray (CMA) could not.

Capabilities of OGM to measure repeat expansions were evaluated. Dr. Alexander Hoischen specifically explored the capabilities of OGM to map repeat expansions, which can be particularly challenging types of SVs, in subjects with Canvas syndrome and myotonic dystrophy types 1 and 2. The OGM workflow was able to immediately call very large insertions with greater precision than the standard cytogenetic techniques and with 100% concordance. OGM was shown to allow researchers the ability to see more of the genome, while being less time-consuming and labor-intensive than other molecular methodologies like Southern blotting, as Dr. Nikhil Sahajpal discovered. Results from his validation study were 100% concordant with traditional methods and demonstrated a streamlined laboratory workflow for different sample types.

Story continues

The role of OGM as a discovery tool in reproductive disorders including infertility. In addition to pre- and postnatal applications, two speakers, Dr. Laila El-Khattabi and Chaim Jalas, shared how the OGM workflow plays a significant role in their research in infertility and reproductive disorders. In her study, Dr. El-Khattabi used OGM to characterize apparently balanced SVs related to male infertility and identify new genes involved in reproductive disorders. Chaim Jalas shared how OGM used in preimplantation genetic diagnosis can identify structural rearrangements, including balanced translocations and inversions, in embryos prior to transfer, which they indicated could improve pregnancy and delivery rates in an IVF setting.

Among 37 posters appearing in the virtual exhibition hall the top poster per application area selected to compete for best poster of Symposium. In addition to the oral presentations, 37 posters were received and selected for presentation in the virtual exhibition hall. These posters, in the virtual exhibition hall, were voted on by attendees of Symposium and a winner was named in each of four key application areas based on total number of votes. Below are the four poster winners:

Constitutional cytogenomics: Dr. Catherine A. Brownstein, Boston Childrens Hospital

Hematologic malignancies: Dr. Jonathan L. Lhmann, Hannover Medical School

Solid tumors: Dr. Miriam Bornhorst, Childrens National Hospital

OGM + NGS: Dr. Nikhil Sahajpal, Augusta University

Sincere congratulations to our poster winners and thanks to all poster authors for sharing emerging research on OGM from their laboratories, remarked Alka Chaubey, PhD, FACMG, chief medical officer of Bionano. This event is made possible with the enthusiastic participation of the OGM community.

We are thrilled at this strong kick-off to the 2022 Symposium and we are excited about the data shared today by experts from around the world that continues to demonstrate the utility of OGM workflows in variant detection for constitutional genetic diseases, commented Erik Holmlin, PhD, president and chief executive officer of Bionano. Congratulations to the poster winners. We are impressed by all the discoveries our customers are making with OGM towards the goal of elevating human health.

Dont miss Symposium, register now! Symposium registration is open to all and there is no charge for attending this event. Register today at https://www.labroots.com/ms/virtual-event/bngo2022

About Bionano Genomics

Bionano Genomics is a provider of genome analysis solutions that can enable researchers and clinicians to reveal answers to challenging questions in biology and medicine. The Companys mission is to transform the way the world sees the genome through OGM solutions, diagnostic services and software. The Company offers OGM solutions for applications across basic, translational and clinical research. Through its Lineagen business, the Company also provides diagnostic testing for patients with clinical presentations consistent with autism spectrum disorder and other neurodevelopmental disabilities. Through its BioDiscovery business, the Company also offers an industry-leading, platform-agnostic software solution, which integrates next-generation sequencing and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants, single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view. For more information, visit http://www.bionanogenomics.com, http://www.lineagen.com or http://www.biodiscovery.com.

Forward-Looking Statements of Bionano Genomics

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things, the ability for additional data to support the strength of OGM workflows as compared to traditional workflows, the ability and utility of OGM to analyze genomes and reveal answers in genetic disease and cancer research in less time-consuming and less-labor intensive manners than traditional workflows, and the potential for OGM to become part of the standard of care. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape, including the introduction of competitive technologies or improvements in existing technologies; failure of future study results to support those demonstrated during the presentations referenced in this press release; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of OGM or our technologies; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2020 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on managements assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

Media Relations:Michael SullivanSeismic+1 (503) 799-7520michael@teamseismic.com

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UPDATE - Bionano Genomics Hosts Day 1 of 2022 Symposium with Six Presentations Highlighting the Superior Performance of OGM in Variant Detection for...

Introduction

Long QT syndrome (LQTS) is defined by a prolonged QT interval accompanied by morphological abnormalities in the T and/or U waves on the electrocardiograph (ECG).1 The primary clinical symptom of LQTS is syncope produced by ventricular arrhythmias.24 The clinical diagnosis of LQTS is based on a combination of the patients medical and family history, as well as the 12-lead ECG.5 According to the guidelines, LQTS diagnosis can be made in case the QTc is more than 460ms, and the patient presents some antecedents, most notably a family history of SCD and unexplained syncope.6

LQTS can be classified into two types based on its etiology: congenital LQTS (cLQTS) and acquired LQTS (aLQTS). While the former is a relatively rare genetic cardiovascular disease with a low incidence rate (1/2000-1/3000),7 the latter is frequently subsequent to electrolyte disorders, cardiomyopathy, cerebrovascular accidents, and autonomic dysfunction.

The pathogenesis of cLQTS is related to the mutation of genes encoding for ion channels, such as KCNH2,3,8 KCNQ1,2,9 TRPM4,1012 and so on, and causing ion channel dysfunction with reduced repolarization ion flow and/or increased delocalization ion flow, which in turn leads to prolonged repolarization. Among ion channel genes, mutations in KCNQ1 and KCNH2, which encode voltage-gated K+ channels involved in cardiac action potential (AP) repolarization are most common,10 followed by mutations in SCN5A which encode voltage-gated Na (1.78%), while mutations in other genes including TRPM4 are rare (below 1% of LQTS).11 Dr. Hof and colleagues were the first to hypothesize that TRPM4 mutations cause long QT syndrome, and they detected four TRPM4 variants, including c.1321 G >A, c.1495 C >T, c.1496 G >C, and c.2531 G >A, with no changes in the key LQTS genes.11

Herein, we reported a Chinese proband with cLQTS with a new mutation (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133) in the TRPM4 with the hope that this report may be helpful in future genetic studies and prospective, genetically informed research.

A 75-year-old male was implanted with a permanent pacemaker 18 years ago due to a local diagnosis of bradycardia characterized by recurrent syncope since the age of 20, yet postoperative syncope continued to occur. Syncope occurred again a day before admission, and then he was taken to our hospital. Electrocardiography (ECG) at disease onset indicated sinus bradycardia, anterior wall T wave changes with visible u waves (Figure 1).

Figure 1 The admission ECG showed sinus bradycardia with QTc interval 432ms and U wave.

On admission, the following vital signs were recorded: blood pressure of 135/88mmHg, pulse rate of 59 beats per minute, the body temperature of 36.4C, and breathing rate of 18 beats per minute. Physical examination revealed no evidence of heart failure or pathological nervous system features.

After admission, repeated electrocardiograms suggested prolonged QT intervals, sinus bradycardia, and T wave changes (Figure 2). Ambulatory ECG also showed sinus bradycardia (mean heart rate 59 beats), prolonged QT interval (540ms), and torsade de pointes (Figure 3). Whats more, the electrodes on the patients pacemaker were discovered to be depleted for nearly five years. Laboratory data showed a slightly elevated level of troponin, as well as N-terminal-pro-brain natriuretic peptide, while other laboratory indexes including hepatic and renal function, electrolytes, coagulation, and inflammatory indexes were normal. We also performed a cranial MRI on this patient, and no neurological lesion was found that could cause syncope. Echocardiography indicated no abnormalities in cardiac structure, and the left ventricular ejection fraction was 61%. Moreover, selective coronary angiography was performed, indicating that the patient has no apparent pathological stenosis in the coronary arteries.

Figure 2 (AC) During the hospitalization, the ECG showed the dynamic changes of T wave; the longest QTc interval was 540ms.

Figure 3 Electrocardiogram monitoring shows torsion de pointes tachycardia.

According to the above results and the diagnostic criteria of LQTS, a highly suspected diagnosis of LQTS was finally made (Rating 6.5 out of 5).1,13,14

Then the etiology of LQTS was further explored. For no acquired LQTS associated risk factors such as electrolyte disorders, cardiomyopathy, cerebrovascular accidents, and autonomic dysfunction were found in the patients previous medical history and related examinations after admission, we are suspicious of the patients Genetics of LQTS.

After obtaining the informed consent, we conducted whole-exome sequencing (WES) on the patient and his family to confirm our diagnosis. Gene testing revealed that the patient carried a TRPM4 heterozygous shift mutation (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133). Moreover, WES analysis of his family members revealed that his sister carried the same TRPM4 mutation as the patient (Figure 4), but his two brothers and son did not. Regrettably, the probands parents have all died, and hence their genes have not been obtained.

Figure 4 The results of genetic testing showed the proband and his sister carried a TRPM4 heterozygous shift mutation (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133) (A), while his two brothers and son did not (B).

Because of the high risk of sudden cardiac death, we recommend implanting a cardioverter defibrillator (ICD) for the patient. Due to economic reasons, the patient refused. Due to the patients strong preference for cautious treatment, we administered Shengsong Yangxin Capsule as a placebo.

cLQTS is a rare cardiac disorder inherited in an autosomal trait, with an estimated incidence of 1:20001:3000.7 It is accepted that cLQTS is a rare ion channelopathy, and a host of genes were described to be responsible for LQTS. So far, 15 genes with more than 7000 mutations have been considered to be associated with cLQTS.15 Among the six genes encode for a pore-forming ion channel, while others encode for regulatory subunits or proteins. Mutations in KCNQ1 (3035%) and KCNH2 (2530%) encoding voltage-gated K+ channels involved in cardiac action potential (AP) repolarization are the most common among ion channel genes,10,14 followed by mutations in SCN5A, which encode voltage-gated Na+ (1.78%).11,14 In comparison, mutations in other genes, including TRPM4 are rare (below 1% of LQTS).11,12,14

As far as the pathology of LQTS, it is generally known that QT duration depends on both ventricular AP duration and AP propagation within the ventricle and ion channel dysfunction with reduced repolarization ion flow and/or increased delocalization ion flow leads to prolonged repolarization. According to a sack of animal experiments on TRPM4, TRPM4 affects cardiac electrophysiological activity through nonselective cation permeability, which leads to cLQTS.11 Unfortunately, additional research is required to decipher the biological mechanism underlying TRPM4-induced loss of function of nonselective cation permeability.

Above all, gene test counts for cLQTS. The importance of gene detection for cLQTS lies in exploring its pathogenic mechanism and its treatment, for the drugs targeted specific ion channels can be used with exerting maximal effects.

In our case, a new mutation site on TRPM4 (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133) was discovered through whole-exon detection, which can provide a brand-new direction for gene screening of patients with cLQTS and further complements its diagnostic criteria. As for the detail of gene tests, we used PolyPhen2 to predict whether a new mutation is damaging to the resultant protein function. And then, according to the relevant literature, we did consider that TRPM4 is as same amino acid change as a previously established pathogenic variant regardless of nucleotide change after searching the OMIM database. But the absence of the literature for molecular pathology makes us failure to achieve the information of damaged protein. At last, combined clinical history, ECG, and the results of gene test, it was suspected that TRPM4 mutation (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133) was the pathogenic variant.

In the treatment of cLQTS, beta-blockers effectively prevent cardiovascular disease and ventricular arrhythmia, and ICD implantation is regarded as the ultimate therapy.16 Because of the high risk of sudden cardiac death, we recommend implanting a cardioverter defibrillator (ICD) for the patient. Due to economic reasons, the patient refused, and we administered a placebo.

The incidence of cLQTS is very low, with the incidence of LQTS caused by TRPM4 being even lower, leading to less research on the gene TRPM4. Therefore, we reported a new mutation in TRPM4 (NM_017636: exon4: c.434delC, p. Ala145ValfsTer133) to provide more evidence for gene screening, to improve the detection rate of healthy gene carriers or patients in the early incubation stage, thereby providing further complements to the clinical data of the study about TRPM4. Notwithstanding its limitation such as lack of this patients past clinical data that can help to compare the symptom before and after the permanent pacemaker implantation, detailed information of the pedigree of this patients parents and so on, this report does hopefully serve as useful feedback information for genetic pathogenesis of cLQTS caused by TRPM4 variants.

cLQTS, congenital long QT syndrome; LQTS, long QT syndrome; ECG, electrocardiograph; AP, action potential; ICD, implanting cardioverter defibrillator; WES, whole-exome sequencing; TRPM4, transient receptor potential melastatin 4; aLQTS, acquired LQTS.

All relevant data supporting the conclusions of this article are included within the article.

The need for institutional ethics approval for this case report was waived. Written informed consent was obtained from the patient for publication of this case report and accompanying images.

The patient has provided informed consent for the publication of the case. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Dr. Rui Huang and Dr. Yinhua Luo are co-first authors for this study.

All authors made substantial contributions to conception and design, acquisition of data, or analysis and interpretation of data; took part in drafting the article or revising it critically for important intellectual content; agreed to submit to the current journal; gave final approval of the version to be published; and agree to be accountable for all aspects of the work.

This work was supported in part by the National Natural Science Foundation of China (82160072) and the Science and Technology Support Project of Enshi Science and Technology Bureau (D20210024).

The authors declare that they have no conflicts of interest.

1. Vohra J. The long QT syndrome. Heart Lung Circ. 2007;16(Suppl 3):S5S12. doi:10.1016/j.hlc.2007.05.008

2. Beiyin G, Tingliang L, Lei Y, et al. Head-up tilt test induces T-wave alternans in long QT syndrome with KCNQ1 gene mutation: case report CARE-compliant article. Medicine. 2020;99(20):e19818.

3. Henk-Jan B, Lucia B. Orgasm induced torsades de pointes in a patient with a novel mutation with long-QT syndrome type 2: a case report. Eur Heart J Case Rep. 2018;2(2):yty062.

4. Joel G, Kinsley H, Amanda W, et al. Recurrent torsades with refractory QT prolongation in a 54-year-old man. Am J Case Rep. 2018;19:1515.

5. Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013;10(12):19321963. doi:10.1016/j.hrthm.2013.05.014

6. Priori SG, Blomstrm-Lundqvist C, Mazzanti A, et al. [2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death]. Kardiol Pol. 2015;73(10):795900. Croatian. doi:10.5603/KP.2015.0190

7. Zumhagen S, Stallmeyer B, Friedrich C, et al. Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy. Herzschrittmacherther Elektrophysiol. 2012;23(3):211219. doi:10.1007/s00399-012-0232-8

8. Du F, Wang G, Wang D, et al. Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: a case report and review of Chinese cases. Medicine. 2020;99(16):e19749. doi:10.1097/MD.0000000000019749

9. Motoi N, Marehiko U, Ryota E, et al. A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report. BMC Med Genet. 2017;18(1):16.

10. Amin AS, Pinto YM, Wilde AA. Long QT syndrome: beyond the causal mutation. J Physiol. 2013;591(17):41254139. doi:10.1113/jphysiol.2013.254920

11. Hof T, Liu H, Sall L, et al. TRPM4 non-selective cation channel variants in long QT syndrome. BMC Med Genet. 2017;18(1):31. doi:10.1186/s12881-017-0397-4

12. Guinamard R, Bouvagnet P, Hof T, et al. TRPM4 in cardiac electrical activity. Cardiovasc Res. 2015;108(1):2130. doi:10.1093/cvr/cvv213

13. Hayashi K, Konno T, Fujino N, et al. Impact of updated diagnostic criteria for long QT syndrome on clinical detection of diseased patients: results from a study of patients carrying gene mutations. JACC Clin Electrophysiol. 2016;2(3):279287. doi:10.1016/j.jacep.2016.01.003

14. Neira V, Enriquez A, Simpson C, et al. Update on long QT syndrome. J Cardiovasc Electrophysiol. 2019;30(12):30683078. doi:10.1111/jce.14227

15. Tester DJ, Ackerman MJ. Genetics of long QT syndrome. Methodist Debakey Cardiovasc J. 2014;10(1):2933. doi:10.14797/mdcj-10-1-29

16. Betge S, Schulze-Bahr E, Fitzek C, et al. [Long QT syndrome causing grand mal epilepsy: case report, pedigree, therapeutic options, and review of the literature]. Nervenarzt. 2006;77(10):12101217. German. doi:10.1007/s00115-006-2118-7

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A Novel Mutation in the TRPM4 Gene | RRCC - Dove Medical Press

As with many medical issues, there can be many reasons why you have thinning hair. From stress, to hair-styling products, to your diet and your genes, its important to know the culprit behind your lacklustre locks.

But the one thing thats for sure it that youre not alone:an estimated 35 million men are suffering from hair loss worldwide.

For men, the main cause of hair loss or thinning is genetics, but not all conditions are caused by this. Other factors have been shown to disrupt growth when severe enough, such as diet, stress, hormonal imbalances and some medical treatments. These factors can affect the hair follicles causing them to go dormant.

Heres the thing: everyone loses 50-100 hair strands a day on average, but if youre experience unusual hair loss, understanding the different types and causes of this loss is important in seeking treatment from a doctor. There are many types of hair loss, with these being the most common:

Known as male-pattern baldness in men, this refers to the general thinning of hair growth. Terminal hair growth (normal hair) is converted to vellus hair (thin, short and unpigmented hairs).

Causes: Genetics, age and hormonal changes.

Sudden and unpredictable patchy hair loss. It can progress to total head hair loss (alopecia totalis) and total body loss (alopecia universalis).

Causes: An autoimmune disease causes the bodys immune system to attack hair follicles.

Large numbers of hair follicles are induced into their resting phase (telogen), resulting in increased hair shedding typically over 200 strands a day. This can be a short or long-term condition that develops two to three months after the triggering cause.

Causes: Systemic diseases, weight loss, drugs, illness, stress, iron deficiency and scalp inflammation.

Hair loss along the front and sides of the scalp caused by a persistent, prolonged or repetitive pulling force being applied to the hair.

Causes: Hair weaves, tight pony-tails and braiding techniques.

There are limits to how much you can do to reduce hair thinning and loss, but some approaches do help. Ensuring that you have a balanced diet with enough Vitamin D, Vitamin C & Iron is a great place to start but beware of going overboard with supplements as some of them such as Vitamin A could hinder growth.

Some poorly formulated shampoos can cause irritation to the scalp, so swapping to a milder alternative could help keep your scalp in good condition and a healthy scalp has been linked to hair growth. There is a compound called Minoxadil which is clinically proven to reduce certain types of hair loss. It does this by reducing the time that hair follicles are in their resting phase, telogen, and increasing the time spent growing, anagen.

Finally, it is also important to look after the hair that you are growing, including during your styling routine!

If you are experience thinning hair, there are certain hair styles that can give the appearance of a fuller head.

Consider hair styles with minimal parting, a fringe, or even try a combover thats swept to the side to disguise a receding hairline. Coloured hair sprays can also be an option to add shading to the scalp area.

During styling, its best to be gentler to your hair and scalp. While drying and styling hair, you should minimise excessive heat, and this is easiest with a controlled airflow and temperature. Be kinder to your scalp by using the Gentle air attachment (like the one on theDyson Supersonic hair dryer) as they use a gentle, cooler airflow while still drying hair fast.

Extreme heat can cause chemical changes to both the proteins and fats within your hair, this causes it to become weaker and more likely to break, which can reduce the amount of hair covering your scalp. Colouring and especially bleaching of hair can also cause weaken your hair, especially if done frequently.

The rest is here:
The Science of Thinning Hair, and The Best Ways to Style it - Men's Health Magazine Australia - Men's Health

A column about being a pregnant trans dad, and all the prejudices, healthcare challenges, personal dilemmas, and joys that come with making a family in 2021.

Merriam-Webster defines parent, primarily, as a person who is a father or mother or a person who has a child. Mother is defined as a female parent and father is a male parent. In my experience, this is exactly how most peopleparents and non-parents alikeuse these words. Thats how its meant to work: As any lexicographer will tell you, mainstream dictionaries are descriptive, not prescriptive. In the words of Simon Winchester, dictionaries tell of the language as it is, not as it should be.

We also have to father and to mother as verbs, which gets a bit more complicated. To father is synonymous with beget and sirethough Merriam-Webster notes, in a circular way, that these words are considered archaic, except in relation to domestic animals. To mother seems simpler on the face of it, maybe less overtly sexist? To mother is defined as to give birth to or to care for or protect like a mother. The first definition is the biologically essentialist one, but at least unlike with beget and sire, there are no caveats or domestic animals to be found.

Its subtle, but already we can see clear signs of a patriarchal system of society embedded in language. Is it less problematic to reduce female parenthood to biology nowadays? Surely, no feminist would argue this (except perhaps the trans-exclusionary kind). To me, and likely to any queer parent, the unqualified foregrounding of a biological role in relation to women seems like a less overt, yet much more insidious example of linguistic sexism.

Thankfully, where dictionaries might oversimplify by describing majorities first and foremost, our laws increasingly do not. With conspicuous exceptions like the UK, democratic states tend towards updating legislation to afford all parent-child relationships equal status and protection under the law, regardless of genetics or gender.

Ive written before about birth certificates, for example. In Canada, Australia, and many US states, gender-neutral birth certificates are available to all families, not just queer ones; in Canada and the US, three or more parents can be recognized on a birth certificate; and in the EU, the European Court of Human Rights recently ruled that all member states must recognize cis-queer parents on their childrens birth certificates.

The unavoidable, pragmatic, progressivehowever you see itconsequence of such laws, and, perhaps the ultimate one, is to deprivilege the traditional nuclear family structure, i.e., a married cis-hetero couple and their biological offspring. Usually, discussions on the topic center on LGBTQ+ familiesand we also tend to be most visible in campaigns to equalize outdated family law. But statistically speaking, cishet parents and their children will always make up the majority of non-traditional, non-nuclear families.

LGBTQ+ family rights, and the discussions they prompt about definitions, were never about special treatmentthey are about equality with other families. We needand need to campaign in a broad coalitionfor new systems, starting from the principle of what children, not their parents, need. This includes complete information about their origins and equal recognition of their parentage. Only by moving past our current legal and social focus on parental rightsor worse, some archaic, ideological notion of real familycan we hope to achieve true equality for all families.

How, for example, does legal motherhood and fatherhood work for the growing numbers of families, LGBTQ+ or not, created with the help of donor gametesthat is, with donated sperm or eggs?

Most of us are still very new to frank, informed conversations about using donor gametes to create family, even if weve actually done it. A few years ago, before conceiving my first child with the help of an open-ID sperm donor, I could be overheard saying, Its just like using donated blood or a kidney, right? Today, having exposed myself to the perspectives of many donor-conceived adults, innumerable donor-assisted families, and the staggering dysfunction of our birth registration system, I understand that all origin information is a persons fundamental birthright. And I believe LGBTQ+ family equality campaigners and campaigners for the rights of donor-conceived people could all benefit from closer alliance, despite being, in some ways, philosophically and linguistically at odds.

In donor-conceived online spaces, Ive noticed an almost fundamentalist approach to language. If its a coping strategyto allay donor-conceived adults completely righteous anger and sense of betrayalit makes sense. I cannot imagine many things more destabilizing than realizing youve been lied to in such a profound way by the people you trust more than anyone else, your parents. The urge to reclaim control and define things strictly according to historically-powerful systems of meaning, e.g., who is ones real or biological father/mother, seems reasonable on the face of it.

Enter the queers. Take my own situation: I am a trans man who became a dad with the help of donated sperm (literally donated, since its illegal to receive payment for gametes in the UK). With this sperm, I became pregnant and gave birth. I have always spoken openly to my kid about being donor-conceived, even before he was born. We have all the books. I will fully support my kid if he wants to contact the donor or his donor siblings in the future, or if he doesnt. Ive already looked into ways of making this possible sooner than him turning 18, which is when hell be able to access the contact details the UK regulator holds. Will I make mistakes? Of course. Am I my childs biological mother? No.

Every parent, as an integral part of becoming one, takes on a responsibility to be proactively honest with their kids about how they were created, from day zero. Also, humans are complicated and flawed, and, given its not their origins but those of their children in question, parents should not be the holders or gatekeepers of this information. A childs genetic origins, how they were conceived and birthed, and who their legal parents are can all be clearly and safely recorded for future reference by them.

But a progressive theory of identity, inclusive definitions of mother, father, parent, and my own queerness force me to stop short of referring to the person who donated the sperm that I used as my kids biological father. Yet this hesitation essentially breaks the rules of donor-conceived community etiquette, as I understand it. In short, it necessarily makes me as a parent selfish and in denial about my choices around family creation. It is seen as taking agency away, yet again, from previously deceived donor-conceived adults.

I hope those who take this position will at least hear me out. Its not the biological that gives me pause so much as the father. In every meaningful, modern sense, I am my childs father. I have this role in his life, it is legally true according to UK gender recognition law, and this is how I understand myself as a transgender man, as trans male. To me, any person who has a parental role and uses the word father for themselves is also a fatherno more, no less. Biology has nothing to do with it.

The yes, but biologically line of argument immediately veers toward the same biological essentialism used to oppress queer people, and trans people in particular, for the whole of human history. If you would not insist that trans men are biological women, and vice versa for trans womenif you recognize these as regressive, exclusionary, and dangerous opinions, as opposed to facts (not feelings!)the same must be true when we talk about family roles and relationships.

I want to clarify that Im not talking about people who meet and develop relationships with their donors. I fully accept that words like mother/father/mum/dad/parent come into play when actual human relationships form. I would never be threatened by the idea of my kid one day having two dads, or a mum and a dad if our donor is a trans woman. Thats exactly the meaning of these words that I see as, well, meaningful.

The conversation around donor siblings is a little different, largely because the idea of sibling carries infinitesimal social power relative to parent. I have seen donor-conceived adults object to the portmanteau dibling (donor sibling) as euphemistic, and yet to me, this is exactly the kind of pragmatic approach that keeps the language of family inclusive, progressive, and, ultimately, as useful as possible. Ones personal relationship to siblings resulting from donor connection is different, broadly speaking, from one's relationship to siblings who grew up as a family. Richer language helps us be clearer and more honest about that. It also de-essentializes and broadens how we understand family more generally.

My hope is that we hold firmly and compassionately to the social and political meanings of mother/father/parent and ditch the biologically essentialist ones completely. As we have begun to do with woman and man, we can let go of our need for strict categories and allow for a complexity that says: Language does not create us, we create it, and this, specifically, is no longer helpful. We no longer need both definitions, biological parent and social parent. Its too easy to subconsciously read that and as a versus, or for the question to follow: Which is more real more important? One automatically sounds like it carries more weight, right?

Is a woman less of a mother for not giving birth, or for using a donor egg? If the answer is no, and I believe wholeheartedly it is, then the best way to make this clear is to dispense with the dichotomous idea of biological mother altogetheralong with to mother meaning to give birth to. Likewise, do we think nonbinary parents are really the biological mother or father if their gametes are involved? If not, then lets not use those terms. If we continue using them for cishet parents, were still implying them for everyone. Or worse, we are drifting yet again towards a hierarchy of realness.

The social and political meanings of these words are the ones that actually matter. So lets use different words when we mean different things, and have zero tolerance for the archaic systems of oppressive power that caused us to settle for just one word, used in rank order, in the first place.

Follow Freddy McConnell onTwitterandInstagram.

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Why We Need Gender-Inclusive Terms for 'Father' and 'Mother' - VICE

Food freedom its a complex term, with definitions ranging from ditching diet culture and restrictive diets to attaining good health and food security through growing your own foods.

Its marketed as an approach to address eating disorders for some and as a way to promote intentional weight loss for others.

However, in the health and wellness space, its an emerging, revolutionary concept that challenges societal norms of dieting and the thin ideal.

It is championed by passionate health professionals and game-changers, such as Shana Spence (@thenutritiontea). Spence is a registered dietitian who takes a non-diet, weight-inclusive approach to health.

She uses her platform to redefine what health means distinct from the diet industrys often-unattainable standards.

Another powerful and passionate food freedom champion is Dr. Kera Nyemb-Diop (@black.nutritionist), who has created a space that emphasizes body respect, eating without guilt, and reclaiming your cultural food heritage as an integral part of your healthy lifestyle.

In this article, we explore food freedom, explain what intuitive eating and mindful eating are, and discuss what roles if any they may have in the pursuit of intentional weight loss.

The food freedom framework has various definitions and applications, including but not limited to (1, 2):

In other contexts, food freedom refers to ditching dieting culture and restrictive diets by giving yourself permission to enjoy all foods in moderation (unless allergies or medical needs prevent you from eating certain foods).

In that application of food freedom, practitioners see food as more than just fuel. They seek to build a positive and judgment-free relationship with all foods, where guilt is not considered an ingredient in the eating experience.

This view of food freedom encompasses intuitive eating and mindful eating, two philosophies that cultivate self-trust around food choices and reject unnecessary restrictions.

Intuitive eating and mindful eating are often used to support recovery from eating disorders such as anorexia nervosa and bulimia nervosa, chronic mental illnesses that negatively affect nutritional status and your relationship with food (3, 4, 5).

Overall, food freedom can help people overcome diet culture or introduce flexibility for intentional weight loss.

Because the varied and overlapping marketing of the term food freedom may lead to some confusion, context matters. This article will focus on food freedom as a non-diet approach to health and nutrition.

The term food freedom has various definitions, including ditching diet culture and cultivating self-trust around food choices. The food freedom approach has been used to support both eating disorder recovery and some intentional weight loss programs.

Food freedom as a therapeutic approach for eating disorder recovery grew out of the need for non-pharmaceutical treatments that emphasize behavioral changes, such as a positive body image and healthy eating attitudes (3, 6).

A 2017 study demonstrated that dieting accompanied by body dissatisfaction and the pursuit of thinness increases the risk of developing bulimia nervosa, binge eating disorder, and purging disorder (7).

Even dieting among inherently lean individuals increases their risk of developing anorexia nervosa (7).

The multibillion-dollar diet industry promotes the thin ideal with unhealthy weight management behaviors, potentially encouraging disordered eating patterns that can contribute to the development of eating disorders (7, 8).

Theres evidence that dieting doesnt help those who are seeking long-term weight loss, either.

Weight regain within 15 years is common among chronic dieters, and approximately 33% of dieters regain more weight than they initially lost (8).

Dieting restrictions contribute to disordered eating. Food freedom, on the other hand, seeks to combat this (5).

Food freedom as a mindfulness-based practice may address disordered eating, including emotional eating and binge eating disorder. It can also help you avoid eating in response to external cues, such as the sight or smell of foods, when youre not physically hungry (6, 9).

In particular, intuitive eating is associated with improved psychological well-being and physical health and fewer dietary restrictions (5, 10).

Food freedom arose from the need for behavior-change approaches emphasizing positive body image and healthy eating attitudes instead of dieting restrictions. It can support folks in recovery from disordered eating or clinical eating disorders.

Although these three terms are often used interchangeably, you may wonder whether they are essentially the same. There are minor distinctions among their presiding principles.

For instance, mindful eating is rooted in the Buddhist practice of mindfulness and living with awareness and intention (11, 12).

Its a meditative practice that is built on the mind-body connection and fosters a state of nonjudgmental awareness that engages your senses sight, smell, taste, and feel during a meal (11, 12).

Mindful eating is the art of being present while you eat.

Similarly, intuitive eating nurtures a mind-body connection, but its distinctively rooted in a weight-inclusive approach to health and serves as the core of the Health at Every Size paradigm (10).

Intuitive eating is guided by 10 principles, including respecting your body, rejecting diet culture, making peace with food, and honoring health through gentle nutrition.

Food freedom, however, isnt so well defined. It may represent true forms of intuitive eating or mindful eating, or it may attempt to bridge gaps between intentional weight loss, caloric restriction, and increased flexibility with food.

Despite these differences, there is a common thread among the three terms: They all seek to reduce unnecessary dietary restrictions and improve your relationship with food.

They aim to remove prospects of guilt, shame, and negative emotions associated with consuming forbidden or bad foods.

The terms food freedom, intuitive eating, and mindful eating may be used interchangeably, but there are differences among these practices. However, they all seek to reduce dieting restrictions and increase flexibility.

Food freedom, when used as a non-diet approach to health, seeks to liberate you from the thin ideal and diet culture, unsafe weight loss or weight management behaviors, and yo-yo dieting.

Whether you choose to adopt a meditative approach with mindful eating or work through the 10 principles of intuitive eating, freedom from restriction and judgment is possible.

Here are some tips:

Food freedom as a non-diet approach to nutrition includes tuning in to your internal cues of fullness and hunger, removing morality from foods, and focusing on health-promoting behaviors rather than the scale.

Intentional weight loss is the active attempt to change your body weight, with the goal of lowering the number on the scale.

Although studies show that intuitive eating is associated with weight loss and a lower body mass index (BMI), at its core, intuitive eating is not a weight loss method (10).

A true intuitive eating program would not advertise weight loss as an outcome, since some people may lose weight while others may gain or maintain weight.

Intuitive eating allows your body to find its happy weight, or biologically determined set point weight.

Likewise, the fundamental principles of mindful eating are not focused on weight loss though some weight loss programs have co-opted its messages of mindfulness (11).

Other programs work to bridge the gap by focusing on health-promoting habits while instituting small calorie deficits that promote slow-paced weight loss without completely avoiding pleasurable foods that might not be nutrient-dense or low in calories.

The principles of intuitive eating and mindful eating dont focus on intentional weight loss, although weight loss, gain, or maintenance may occur when you adopt them. Instead, they focus on allowing your body to reach its happy, natural weight.

Food freedom is a highly marketed term with various definitions, ranging from overcoming diet culture and restrictive diets to engaging in food sovereignty. Therefore, context matters.

As a non-diet approach to nutrition, food freedom includes tuning in to your internal cues of fullness and hunger, decoupling foods and morality, and focusing on health-promoting behaviors not just the scale.

At their core, intuitive eating and mindful eating principles dont focus on or promote intentional weight loss. Rather, they help you discover and engage in health-promoting habits that may lead to weight loss, gain, or maintenance.

These frameworks help people foster positive relationships with foods and their bodies that are built on self-trust and self-compassion rather than on the thin ideal.

See the rest here:
What Is Food Freedom? Getting Started, Weight Loss, and Tips - Healthline

On this pageWhat is genetic testing?

Genetic testing can give you important information if you are planning a family or if you, or someone you care for, has a genetic disorder. But before you start, there are plenty of issues for you to think about, including where to turn if you choose to do a test.

You might think about genetic testing if:

Genetic tests all look for variations from what genes should normally look like. There are many variations found in genes, and only some of them are important.

The testing is only the first part. The important part is understanding what the test results mean. For that, you should talk to a doctor or genetic counsellor.

Most genetic tests are blood tests. It is also possible to do tests on a sample taken from the inside of your mouth (known as a buccal smear) or from your saliva. These are easy and safe.

If you're pregnant, prenatal testing may include a blood test, chorionic villus sampling (CVS) or amniocentesis. Visit Pregnancy, Birth and Baby website for more information on prenatal screening.

It's also possible to order tests online without seeing a doctor. This is not a good idea. The National Health and Medical Research Council warns people to be cautious of this.

The cost varies enormously. Before you start, ask your doctor or genetic counsellor how much the tests cost and whether or not you're covered at all by Medicare. Tests ordered online are not covered by Medicare.

The main benefit is knowledge: if you have a genetic test, you can get advice about what that test means. If you have a condition that might have a genetic basis, you will understand it more clearly.

If you're having a baby, it helps you plan how to handle the pregnancy and birth and the life that follows. It can also help if you're wondering about having a termination.

For some people, testing can get rid of some of the uncertainty around their health, for example, fears they may be a genetic carrier of a particular disorder.

If you feel well but are worried about having a condition that runs in your family, genetic testing can prompt you into action to reduce your chances of getting ill, whether that's through diet and exercise or through screening for a certain condition.

Some people face discrimination at work if they are known to have a genetic mutation.

If you have any genetic tests, you will probably need to declare them for any life insurance or income protection. If the tests identify a gene variant that increases your risk of disease, that might make it hard or impossible for you to get insurance.

Some of the companies that you can order tests from online are based overseas. They might be less careful about privacy than Australian companies. Some overseas companies sell information about genetic tests to others. Ordering tests from these companies has a risk that your private information could become available to others.

Genetic testing is not always accurate. If you find that you have a variation to a gene, that gives a clue. But it doesn't tell you how much you will affected by the abnormal gene. Some people will be severely affected by an abnormal gene, while another will not be affected too much at all.

Also, testing for genes is complex and it can be hard to tell what minor changes in a gene mean. It is likely that some of the testing done by companies offering their services online will be inaccurate.

That decision is entirely up to you. There is no right or wrong answer. Talk to family and friends you trust. You can talk to your doctor or to a genetic counsellor. Take your time.

It's best to see your doctor or a genetic counsellor if you're thinking about having a test. That way, you can talk through the implications of having the test. And if you go ahead with it, you can get some good advice about what the results mean.

If you have a genetic test, you might find out things you wanted to find out, but you might also find out things you didn't want to know. Your relatives might want to know everything, or they might want to know nothing.

The best way is to talk to them before you have any test, so you understand their point of view.

Visit our 'Guide to genetics disorders' to learn more about genetic disorders and where to go for help.

Read this article:
Genetic testing | healthdirect

Who Should Be Tested For BRCA?

WhileBRCA1 and BRCA2 gene mutationsmay increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.

For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determiningbreast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.

Odds can also vary depending on a persons ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.

Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:

There are alsoother gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.

Genetic counseling is recommended for those who are interested in being tested for breast cancer gene mutations.You can talk to a doctor about getting a referral to a genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors.Since many genetic tests only look for one specific gene mutation, the counselor can often help determine which mutations to test for.

The genetic test itself simply involves taking a small sample of blood or saliva, which is sent to a lab for analysis. Results can take several weeks or months.

Genetic testing results are not always clear-cut:

After receiving genetic test results, a patient should meet again with a genetic counselor to clarify what the results mean. Whether the results are positive, negative, or ambiguous can impact many life decisions, and a counselor can help navigate those decisions.

Genetic testing can be scary. The results also can impact other family members such as siblings and offspring; when someone tests positive for a gene mutation, their siblings and offspring will have a 50% risk of also testing positive. Having a discussion with a genetics counselor first is encouraged so a discussion about the potential scenarios can take place.

For a woman who tests positive for BRCA1 or BRCA2 gene mutation, bilateral mastectomies are usually recommended particularly if she has just been diagnosed with breast cancer.

Originally posted here:
Genetic Testing for Breast Cancer - National Breast Cancer ...

Turn up your hearing aid, will ya?

http://www.Shutterstock.com. Gene therapy, hearing loss.

As lewd and crude and rude as it sounds, it is the general response for the person on the street, even if muttered underneath his or her breath, when dealing with someonefriend, family, co-worker, etc.who suffers from mild to moderate hearing loss.

Aside from some surgical procedures that are not as commonly known, hearing deviceswhile being constantly upgraded in the digital agehave been the traditional source of help.

But there is one other ray of hope burgeoning on the horizon: Gene therapy.

From the Ivy League to the University of Miami to the University of Michigan to Oregon State to Tel Aviv, experts are on the verge of cracking the case.

Although not yet available, inner ear gene therapy for monogenic hearing loss is an emerging technology, explained Jeffrey R. Holt, PhD, a professor of Otolaryngology & Neurology at Harvard Medical School and of Boston Childrens -Hospital. There is growing interest from scientists, funding agencies, industry and patients, all spurred on by recent proof-of-concept studies showing recovery of auditory function in animal models of human hearing loss.

Holt added that genetic treatments for hearing loss sit on the horizon and the significance of this new therapeutic strategy for patients and families is high.

Nonetheless, he cautioned that the most common forms of genetic hearing loss, the result of mutations in GJB2, may be difficult to treat using gene therapy. Other rare forms of genetic hearing loss, due to mutations in OTOF, TMC1, or Usher syndrome, may be those first in line, but others will like follow.

Fan-Gang Zeng, PhD, the director of the Center of Hearing Research at the University of California-Irvine School of Medicine, explained that gene therapy addresses hearing loss biologically by repairing or restoring damaged cells, which hearing aids or cochlear implants do not accomplish.

Gene therapy is the future, but we dont know when the future will come, he said. While gene therapy is still in infancy, genetic screening of hearing loss is relatively matured. Concurrent screening with traditional audiological measures (OAE and ABR) and genetic testing can improve both the accuracy and prognosis of hearing loss while helping patients and doctors predict its course of development and management on an individual basis.

Yehoash Raphael, PhD, is a professor of Otolaryngology at the University of Michigans Kresge Research Institute. He has been recognized around the globe for his research, the interests of which include inner ear biology, protection and regeneration, gene therapy, genetic deafness, CHARGE Syndrome and stem cell therapy.

Raphael believes gene therapy should be advanced for several clinical conditions, both environmental and genetic.

At the cellular level, the goals would be related to repair and regeneration of cells that are injured or lost, he said. At present, amplification or cochlear implants provide an acceptable solution for many patients.

He cautioned, however, the biological therapy that restores function may work better, but is not currently available.

Ideally, we would like gene therapy to improve so it can be used for treating genetic deafness and sensorineural hearing loss caused by hair cell loss due to overstimulation, aminoglycosides, or infections, he said. As such, gene therapy presents an exciting prospect for future hearing restoration therapies.

At Michigan, Raphael and his colleagues are using combinatorial gene transfer methods to enhance the efficiency of new hair cells and are planning to enhance this approach and include other genes.

We are working on two mouse models for genetic inner ear disease, trying to better understand the biology of the mutation and also to design therapies, he said, adding that the research on therapies has met with mixed results.

Holts lab has focused on development of gene therapy for patients with mutations in TMC1 and for Usher syndrome patients.

We have remarkable data showing full recovery auditory function in some cases, he said. We are working with industry partners to bring these therapies into the clinic.

Meanwhile, in the private sector, companies such as Decibel Therapeutics are also seeking solutions.

According to Laurence Reid, PhD, it is simply a case of seeing the need and seeking to answer it.

The impact of significant hearing loss and balance disorders on individuals is profound and disrupts their connectivity with their human and physical environment, said Reid, the CEO of Decibel. We believe the inner ear represents an exciting new frontier for gene therapy, which will result in a pipeline of transformative medicines.

Reid added that the inner ear is an organ that is exquisitely suited to gene therapy. As such, the therapy can be delivered directly to the relevant cells, which are non-dividing and offer a durable potential for gene therapy. Lastly, the ear has a degree of immune privilege, which will moderate immune response against the therapy.

Said Reid, We are developing technologies that enable precision gene therapy, which will enable us to control the expression of the transgene in the gene therapy and limit the resulting pharmacology to precise cell types in which we intend to elicit a biological response.

Programs are in development to address both hearing loss and balance disorders and our therapies will comprise treatments for genetic forms of hearing loss, together with regenerative medicines, to treat acquired forms of hearing and balance disorders.

Looking ahead at the future of gene therapy as related to hearing loss, Raphael explained that the current technology for gene transfer for inner ear therapy needs to be improved in several cardinal and critical aspects to become a clinical reality.

He added that some of the parameters that need to be optimized include high cell-specificity, control of duration and extent of gene expression (how long and how much), acceptable route for delivering the vectors into the target site, and lack of toxicity and other side effects.

All these parameters are being addressed but still far from being accomplished, he said. Lack of accurate and reliable diagnostic tools, especially related to hair cell loss, also complicate the implementation of gene transfer technology.

Better technology would include upgraded batteries of tests that can predict the condition of the auditory epithelium, auditory nerve and other structures that are needed for biological hearing.

The promise of hearing restoration would become more realistic with these parameters resolved, he said.

Holt also cautioned against expected results tomorrow or the next day.

While hopes are high that this may soon be a therapeutic option for some patients with genetic hearing loss, it is important to keep in mind that a careful and systematic approach will be required to fully understand both the safety and efficacy of this treatment modality, he said. There are at least 100 forms of genetic hearing loss and each will need to be evaluated before use in patients can commence.

Reid further explained the importance of expanding access to genetic testing so families can understand the roots of their childs congenital hearing loss and seek out relevant clinical trials and ultimately tailored therapies.

Noting that accurate diagnosis of infant hearing loss is crucial to developing new treatments and providing clinical care, Reid added that Decibel hasin collaboration with Invitaelaunched Amplify, a sponsored testing program in the U.S. and Australia.

This program provides genetic testing at no charge for children with auditory neuropathy and aims to drive awareness of genetic testing and gain physician interest, as well as support enrollment into future clinical trials, he said.

What does all this mean for audiology professionals?

Holt predicts that audiologists will be an important part of the hearing health care team as this new wave of therapeutic options enters clinical trials, eventually wins approval, and becomes more broadly available.

He added that evaluation of auditory function before and after gene therapy treatments will be critical for understanding the efficacy, durability, and therapeutic window for hearing preservation and restoration.

In preparation for the coming wave, audiologists can understand basic genetics, familiarize themselves with the various genes associated with genetic hearing loss, and be prepared to field patient questions, he said. I suspect that as soon as the first inner ear gene therapies enter clinical trials, there will be an explosion of patient interest and inquiries. However, inner ear gene therapies will not be a magic bullet cure-all. Rather, a precision medicine approach will be required, as these therapies will need to be tailored to each patients specific genetic diagnosis.

Zeng had a similar view and explained that future audiologists will need to learn and understand the genetic component of hearing loss, which contributes half or more to the prevalence of hearing loss.

Dont expect gene therapy to be a silver bullet that can solve all the problems, said Zeng. There are a lot of things that gene therapy cannot solve (i.e., hearing loss related to mental issues).

Raphael made the distinction between audiologists doing research and clinicians, advising those in research to consider joining the research efforts to design diagnostic means that will determine presence/absence of hair cells and/or neurons, and if hair cells are absent, where in the cochlea this condition exists and what state the supporting cells are in.

He added: Are they differentiated or flat? The condition of supporting cells is an important factor in planning the set of genes that will be used to generate new hair cells.

Raphael explained that audiologists in the clinics need to be aware that there are currently no therapies based on gene transfer being offered. In some cases of genetic hearing loss, when the diagnosis is clear and the gene involved is not a very large gene, there is a chance that gene therapy could be offered in the relatively near future.

He added that this is especially true for mutations that affect hair cell, and where the hair cells survive but do not function properly.

I have a feeling that many of the patients asking about gene therapy options are those experiencing age-related hearing loss, which most of us are likely to develop at different speeds of progression, he said. Because many of these cases have long-term loss of hair cells and likely at least some neuronal regression or degeneration, the application of gene therapy would be very complex and challenging.

Reid added that, over the next several years, Decibel hopes that a range of pharmaceutical interventions will become available to people with hearing loss and their caregivers.

Audiologists will thus have therapeutic options in addition to the existing devices, which assist hearing improvement, he said. Diagnosis of particular forms of hearing loss will expand to include broader consideration of genetic mutations responsible for hearing loss.

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Gene Therapy for Hearing Loss on the Horizon : The Hearing Journal - LWW Journals

NEW YORK, Dec. 30, 2021 /PRNewswire/ -- Jscreen.org, a national nonprofit that provides accessible and affordable genetic testing, education, and personalized support to help people and their families take control of their health, announces the 'Give A Spit" campaign that debuts with a New York Times Billboard on December 31, 2021. The campaign breaks with the New York Times Billboard and will continue with a robust social media campaign.The campaign also runs on http://www.jscreen.organd JScreen social media channels. The JScreen.org mission is to create healthy futures by preventing genetic diseases. And this year, they are calling out to people to help spread that message.

The goal of the billboard and social media 'Give A Spit" program is to get people to use #giveaspit and film their own video spitting into a cup. The program debuts on New Year's Eve with the Times Square billboard at 45th and Broadway and leads into a 2022 social media challenge. JScreen is calling to help raise awareness for genetic testing and its life-saving power. It's simple. Go to JScreenInstagram page @GetJScreened or use the QR code in the billboard:

1. Follow @getjscreened 2. Record a video of you spitting in a cup and why you "give a spit."3. Post it to your stories with the #GiveASpit and tag @getjscreened4. Tag and nominate three friends to Give a Spit, too.

For more information, visit jscreen.org/specialoffer

"Our #1 goal is to create a healthy future by preventing genetic diseases through genetic screening and education. In 2022, says Hillary Regelman, Director of National Outreach and Marketing at JScreen. "We are asking for your help in making that future a reality by raising awareness and showing your support for the life-saving power of genetic testing," adds Regelman.

#genetictesting #NewYearsEve #NYE2022 #getjscreened #nonprofitInstagram page @GetJScreened through the QR code in the billboard

The advertising and social media project is being created in cooperation with JIB Sheet Partners, a digital ad agency located in New York.

Whey this matters --Did you know?

The JScreen test on saliva screens for over 200 hereditary diseases and 60+ mutations associated with certain types of cancer. By creating awareness for genetic testing, JScreen.org can help more families turn their dream of having healthy children into a reality and provide others with life-saving information for early detection and prevention of many hereditary cancers.

About JScreen.

JScreenis anational non-profit public health initiative dedicated to preventing genetic diseases and cancercommon in the Jewish and other populations.Headquartered in Atlanta at Emory University School of Medicine, theJScreeninitiative provides convenient at-home access to cutting-edge genetic testing technology, patient education, and genetic counseling services.JScreenbelieves the combination of education, access to premier genetic screening technologies, and personalized, confidential support are the keys to preventing devastating diseases.

JScreenunderstands the importance of giving people a heads up if theyhave a hereditary risk for cancer.This not-for-profit home education andgeneticscreeningprogramstarted in 2013 withreproductive genetic testingcalledReproGEN andnow tests forrisk forover40 types ofhereditarycancerwith the addition oftheCancerGENtest.

One ofJScreen'sgoals is to make testing affordable.ReproGENcurrently costs $149, andCancerGENis$199.JScreenalso offersneed-basedfinancial assistance.

The proof ofJScreen'spassion for saving lives is in the incredible stories they hear, the healthy babies born, and the peoplewhocannowtake action to avoid a cancer diagnosis. As theJScreenteam likes to say "we are a small team with a huge footprint."

JScreen'sprogram is led by medical professionals at an academic medical center. It provides medical-grade testing that is used in doctor's officesin addition to specialized genetic counseling follow-up by phone orvideoconferencingfor people who are identified as carriers.

Please visitJScreen.orgfor more information.

For media interviews and more information, contact: Stacey Bender [emailprotected]973-650-1218

SOURCE JScreen.org

See the article here:
'Give A Spit' About Your Health in 2022 - PRNewswire

The latest research on Genetic Testing Services Market concisely segments the industry based on types, applications, end-use industries, key regions, and competitive landscape. Also, the report provides a detailed evaluation of the gross profit, market share, sales volume, revenue structure, growth rate, and the financial position of the major market players. The scope of development for new entrance or established companies in the Genetic Testing Services business was also highlighted in the report.

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Genetic Testing Services market is split by Type and by Application. For the period 2018-2026, the growth among segments provides accurate calculations and forecasts for sales by Type and by Application in terms of volume and value. This analysis can help you expand your business by targeting qualified niche markets.

Market Segmentation by Type:

Market Segmentation by Applications:

Regions covered in Genetic Testing Services Market report:

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Research Report on Genetic Testing Services Market Size 2021-2026 Industry Share and Demand Analysis of Key Players Industrial IT - Industrial IT

New Jersey, United States,-Market Research Intellect has been analyzing technology and markets for Direct Access Genetic Testing since 2018. Since then, through Research Analysis of companies, we have been very close to the latest research and market development.

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Direct Access Genetic Testing Market Breakdown by Type:

Direct Access Genetic Testing Market breakdown by application:

The Direct Access Genetic Testing market report has been separated according to separate categories, such as product type, application, end-user, and region. Each segment is evaluated on the basis of CAGR, share, and growth potential. In the regional analysis, the report highlights the prospective region, which is expected to generate opportunities in the global Direct Access Genetic Testings market in the coming years. This segmental analysis will surely prove to be a useful tool for readers, stakeholders and market participants in order to get a complete picture of the global Direct Access Genetic Testings market and its growth potential in the coming years.

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Direct Access Genetic Testing Market Size 2021 Analysis by Top Companies, And Forecast to 2028 | 23andme,Myheritage,Labcorp,Myriad Genetics ...

Genetic testing company Invitae (NYSE:NVTA) has seen its shares tumble from their highs despite aggressively ramping up its test volumes this year. The company is at the center of integrating genetics into healthcare, and this space still has so much potential.

However, sometimes a good story doesn't make for a good investment idea. Investors could buy the dip on Invitae, but they shouldn't ignore a major hang-up on its business model. Here is what you need to know.

Invitae generates revenue by administering genetic tests while steadily also building a genome information database over time. The more tests it administers, the larger and deeper its data is, which it can eventually leverage to create new opportunities to help patients and generate new revenue streams.

Image source: Getty Images

2021 has seen a big step forward in the number of genetic tests it administers. Its billable volume in the third quarter of 2021 surged 89% to 296,000 tests, driving revenue up 66% year over year to $114 million.

NVTA PS Ratio data by YCharts.

If the company is performing, why has the stock fallen? Growth stocks across the broader market were popular in early 2021, including Invitae, which sported a price-to-sales ratio of 24 -- well above where it's traded over most of the past five years. That valuation has since dropped dramatically to just over 8, and the shares have fallen more than 70%. This isn't just a dip -- this is a collapse. The result is a stock that is now much more reasonably priced.

However, Invitae has yet to progress toward generating free cash flow despite ramping up its business for more than five years in the public markets. The more Invitae generates in revenue, the more its free cash flow losses grow as well.

NVTA Revenue (TTM) data by YCharts.

Here's the problem. Invitae brought in $114 million in third-quarter revenue but spent almost as much ($93 million) on research and development and another $109 million on selling, general, and administrative costs. In other words, the costs to operate the business were 176% of revenue, which is worse than Q3 2020 when operating costs were 149% of revenue.

A young company often loses money as it invests for growth, but at some point the business needs to outgrow its expenses and begin generating free cash flow. Otherwise, the business model doesn't work.

It's too early to say that Invitae's business can't work, but years of losses have caused the company to repeatedly raise money by issuing new shares of stock. This is common for companies in their growth stage, and the key for investors is that as a company begins to generate cash flow, it no longer needs to issue shares to fund growth.

We can see below that the number of Invitae's outstanding shares has nearly quadrupled over the past five years. When a company issues new shares, the existing shares are worth less. Think of it as a pizza cut into four slices, and then cut two more times to make 16 slices. The pizza didn't get bigger; the slices just got smaller.

NVTA Shares Outstanding data by YCharts.

Investors need to consider the company's repeated equity raises before buying the stock. Dilution hurts investor returns because it lowers the amount of earnings per share (EPS). The company could be making more money, but if it keeps issuing shares, the stock might remain stagnant if the new shares keep EPS from growing.

Invitae has $1.2 billion in cash after burning through $148 million this past quarter, so the company shouldn't need to raise more funds in the near future. However, investors who buy the dip on Invitae will need to monitor how quickly the business is burning cash to determine whether shareholders remain at risk of dilution.

This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.

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Should You Invest in Invitae Right Now? - The Motley Fool

When we think of cutting-edge technology, especially in the field of reproductive medicine, IVF promptly comes to mind. But as recent as this medical advent might seem, the truth is that IVF or in-vitro fertilisation is over 40 years old. And in these past four decades, science has moved ahead by leaps and bounds.

In fact, in the past few years, science has evolved so much that IVF is no longer the most advanced technology out there. Many new techniques suited for couples who cant be helped by traditional IVF exist. And thats exactly what were exploring today with the help of fertility specialist Dr S.Vyjayanthi, who has more than 20 years of experience and has performed more than 10,000 cycles of IVF. She has also several publications to her credit and has been providing fertility services at KIMS Fertility Centre, Secunderabad for more than a decade. Here, shes shedding light on some of the latest technological interventions in the field of fertility and IVF that you need to know about.

1. ICSI

Think of ICSI or intracytoplasmic sperm injection as a technique that is a notch more advanced than traditional IVF. Explains Dr Vyjayanthi: In IVF, we mix the sperm and egg in a dish in the lab, and the sperm gets inside the egg on its own to facilitate the process of fertilisation. Whereas in ICSI, one single sperm is injected into the egg using a big machine called micro-manipulator.

While in both cases the embryo is fertilised outside the womb, in a lab, the difference might not seem like much to laypeople. But in certain cases, ICSI can be a godsend. ICSI is mainly meant for men who have a very low sperm countanything less than 10 million per ml. In these men, fertilisation doesnt happen with straightforward IVF, she adds. For men with azoospermiawhere there is no sperm in the ejaculate and sperm has to be extracted surgically from the testesICSI process is used to make the embryo.

But male factor isnt the only indication for the use of ICSI. Dr Vyjayanthi suggests that in couples presenting with unexplained fertility (where all tests are normal, and yet the couple cant conceive), this technique can help achieve pregnancy too.

That said, with ICSI you also need to move ahead with caution and choose the doctor and clinic. Because it is a highly technical process, it involves a lot of expertise of the embryologist. So he/she has to be really very good to get good results with ICSI, she stresses.

2. IMSI

Also known as intracytoplasmic morphologically selected sperm injection, IMSI is the more technologically advanced version of ICSI. Here, the sperm is magnified six thousand times as opposed to ICSI where we magnify the sperm four hundred times to be able to put the most viable sperm inside the egg, explains Dr Vyjayanthi.

Much like ICSI, IMSI is employed for couples where the male partner has poor quality sperm to get better results. Whenever we surgically retrieve sperm from the testes, we prefer IMSI so as to make a better sperm choice, she adds.

3. Egg freezing

Egg freezing isnt unheard of. With celebrities like Diana Hayden opting for egg freezingand using their frozen gametes to get pregnantthere is much that has been said and done about this technique. But before you write off egg freezing as a celebrity-driven trend, know that it has plenty of real-world benefits.

Egg freezing is usually done for two purposes. First, for oncology purposes where women who are unmarried and are going to undergo chemotherapy are advised to opt for it so as to preserve fertility, explains Dr Vyjayanthi. Then there is social egg freezing that most of us are already aware of. Women in their late 20s or early 30s who are unmarried can have their eggs frozen. But this has to be done at the right time to get the benefits. If you opt for it in your late 30s or early 40s, youve already missed the boat, she stresses.

4. Embryo freezing

Not just eggs and spermembryos can also be frozen to be used for later use. And when it comes to freezing technology in IVF, the sciencecalled vitrificationhas advanced enough in the past decade to guarantee 95 to 99% success (when it comes to embryo quality) upon thawing.

But is there any need for frozen embryos in IVF? Well, explains Dr Vyjayanthi: Frozen embryos are definitely beneficial for a specific group of women, especially women with polycystic ovaries who have lots of eggs. When these women are stimulated with drugs, they produce more eggs and run the risk of hyperstimulation. So when we freeze their embryos and put them back in the next cycle, that risk is reduced.

Embryo freezing also provides an efficient solution for surplus embryos. Lets assume someone has made four good embryos and we have implanted two. The remaining two can be frozen, so that they can come back again, later on, to use the embryos for later on to complete their family, the expert explains.

5. Genetic testing of embryos

To rule out the risk of hereditary diseases, genetic testing of embryos is donewith technology so advanced that the embryo is not disturbed or damaged one bit. Explains Dr Vyjayanthi: There are two types of genetic testing. PGT-A or pre-implantation genetic testing for aneuploidy, where the embryos are checked to see whether they are chromosomally normal or not. We offer this to women who have had frequent miscarriages and/or are of advanced maternal age.

Yet another type of testing that is employed is PGD or preimplantation genetic diagnosis. This is used when either the male or female partner has a genetic disease in the family. So, we screen the embryos and implant only the normal ones, she adds.

While traditional PGT-A and PGD are tried-tested methods that have been used for years, the latest advancement in the field of genetic testing of embryos is minimally invasive. For the past few months we have been using PGT-A on spent culture media of the embryos. Simply put spent culture media is the solution in which the embryos are cultured in the lab for five days before being placed in the womb. While sitting in that media, embryos shed some cells which are then tested for chromosomal defects. The advantage with this technique is that it is non-invasive and causes no damage to the embryo, concludes Dr Vyjayanthi.

Read more:
Evolution Of IVF: 5 cutting-edge techniques you need to know about - Hindustan Times

New laws go into effect in the D.C. area on Saturday, Jan. 1, 2022 related to plastic bags, leaf blowers, disposable utensils, car insurance and more. Heres a rundown.

Gas-Powered Leaf Blowers: In an effort to reduce noise, the use and sale of gas-powered leaf blowers will be banned in the District starting Jan. 1, 2022. A new law says any individual or company caught using one of the leaf blowers can be subject to fines of up to $500.

Violations can be reported to the Department of Consumer and Regulatory Affairs. Video and audio evidence of violations can be submitted but will not be required.

Rebates for electric equipment for residential and commercial use are available. Go here for more info and answers to frequently asked questions.

Disposable Utensils and Food Service Waste: D.C. restaurants will be banned from automatically handing out disposable utensils, napkins and condiment packets with orders, starting on Jan. 1, 2022. Restaurants and other food-serving entities must give out these items upon request or have them in a self-serve area so customers can take them. The requirements apply to in-person, online and mobile orders. Go here for more info.

Vaccination Entry Requirement: Later in the month, starting Jan. 15, D.C. will require people age 12 and older to provide proof of vaccination against COVID-19 in order to enter restaurants, bars and nightclubs. As News4 previously reported, the requirement will apply to movie theaters, concert venues, gyms, yoga studios and shared work facilities.Go here to see the order by Mayor Muriel Bowser.

Minimum Wage:The minimum wage in Maryland will increase.On Jan. 1, the rate will go up to $12.50 for people working for employers who have 15 or more employees. It will increase to $12.20 for those working for employers with 14 or fewer employees.

Organ Donation: Maryland residents who choose to be organ donors while registering for their drivers' licenses on or after July 1, 2022 will have the option to decide if they would like their organs to go to research and education or to transplantation and therapy. Motor vehicle administration locations must provide drivers with information about each choice. Any organs donated before July 1 from previously registered donors can only be used for transplantation or therapy.

Genetic Counselors: A new law requires the Maryland Board of Physicians to license genetic counselors and to establish a Genetic Counseling Advisory Committee within the board. Genetic counselors give patients and families information about genetic testing and how genetic conditions could affect them.

Minimum Wage: Statewide, the hourly minimum wage will increase to $11 an hour on Jan. 1, 2022.

Special ID for Undocumented Residents:Starting Jan. 3, undocumented residents of Virginia can apply for a special identification card at the Department of Motor Vehicles. Undocumented children are also eligible to receive an ID.The legislation was sponsored by Del. Elizabeth Guzmn.

In January 2021, undocumented drivers in Virginia became eligible to apply for a special driver's permit calleddrivers privilege card.According to estimates, over 300,000 people could benefit.Read more here.

Plastic Bag Tax: Locally, the city of Alexandria, Arlington County and Fairfax County adopted a 5-cent tax on disposable plastic shopping bags such as those found at grocery stores, convenience stores and drug stores. The tax will affect shoppers and will take effect in all three jurisdictions on Jan. 1, 2022.

Revenue collected will help fund "environmental cleanup, providing education programs designed to reduce environmental waste, and mitigating pollution and litter." The law does not ban plastic bags.

Local Elections Schedule: Statewide, municipal elections for city council and school board in Virginia will be moved from May to November, beginning with elections held after Jan. 1, 2022.

Virginia Residential Property Disclosure Act: Is your home at risk of flooding? Homeowners in Virginia who know that their property is a "repetitive risk loss structure" must disclose that fact to the purchaser of their home by using a form provided the Real Estate Board.

The state defines "repetitive risk loss structure" as any home that has two or more claims of more than $1,000 that were paid by the National Flood Insurance Program since 1978.

Inhalers in Public Schools: Virginia schools will change the way they treat students with asthma.

In the new year, local school boards are required to create and adopt policies to allow certain school employees to administer stock albuterol inhalers to students believed in good faith to be in need of such medication.Under the law, those administering the medication will be exempt from any liability.

Students with asthma or anaphylaxis, or both, will also be allowed to possess and self-administer "inhaled asthma medications or auto-injectable epinephrine."

Motor Vehicle Liability Insurance: There will be increases to liability insurance coverage amounts for policies effective between Jan. 1, 2022 and Jan. 1, 2025.

Coverage amounts will increase from $25,000 to $30,000 in "cases of bodily injury to or death of one person." And from $50,000 to $60,000 in "cases of bodily injury to or deathof two or more persons." Details on the amounts can be found here.

Continue reading here:
New Laws Take Effect Jan. 1 in DC, Maryland and Virginia - NBC4 Washington

The National Wildlife Rescue Center (NWRC) was established in 2013 in peninsular Malaysia by the Department of Wildlife and National Parks (PERHILITAN). The centers focus is on the rehabilitation of wildlife, including gibbons, for eventual release back into the wild.

The gibbons arrive at the rehabilitation center for various reasons. Some are kept illegally as pets, while others are found in plantations that have been displaced from their habitat.

Near the end of their rehabilitation, gibbons undergo a variety of assessments and procedures, such as genetic testing. This is partially an effort to identify subspecies for a successful and responsible reintroduction of the gibbons.

While checking the genetics of 12 captive white-handed gibbons at NWRC, experts made an exciting discovery. A team including Dr. Jeffrine J. Rovie-Ryan from University Malaysia Sarawak, and Millawati Gani and colleagues from the National Wildlife Forensic Laboratory of PERHILITAN, identified a genetically distinct population of gibbons new to science.

The researchers found unusual mutations in the gibbons DNA, which led them to the conclusion that these animals had been evolving in isolation.

Given the prolonged isolation, it is likely that the southern population has undergone some local speciation, but this finding should be regarded as preliminary and requires further investigation, explained Dr. Rovie-Ryan.

The gibbons in the study have not yet been released but are in pre-release at a semi-wild enclosure on Pulau Ungka (Gibbon Island) where they are being closely monitored. Without the dedicated work of PERHILITAN, and without genetic testing, this population of gibbons may have remained unknown for many years. With more research, additional information about the genetics of gibbons is likely to turn up.

The findings are published by Pensoft in the open access journal ZooKeys.

By Zach Fitzner, Earth.com Staff Writer

Read more:
New population of white-handed gibbons discovered - Earth.com

Forty years ago this week, a couple from the Central Massachusetts town of Westminster, Judith and Roger Carr, had a baby girl named Elizabeth. She was the first child in the United States to be conceived via in vitro fertilization. Elizabeth Carr joined Judie Yuill on GBH's All Things Considered to talk about her life, how it all began and how she remains involved in the in vitro community. This transcript has been edited for clarity and length.

Judie Yuill: So I should start by saying "Happy birthday." It was yesterday, right?

Elizabeth Carr: It was. The entire world knows I am now 40 years old.

Yuill: What is that like?

Carr: Well, you know, my inbox was flooded, and I got a lot of lovely messages. It's a little bit surreal every birthday.

Yuill: I bet it is. Now, tell us how your parents came to rely on in vitro fertilization.

Carr: So my parents basically had trouble staying pregnant. My mother had something called three ectopic pregnancies. And as such, she had to have her fallopian tubes removed, which meant that the normal way of having a child was impossible. And when she was at her OB-GYN, she went in for a routine checkup after her fallopian tubes were removed. And he said, "Well, I don't know if this might be something for you, but I just came back from a conference and learned about something that was successful in England called in vitro. Maybe you should check it out." And that was it.

Yuill: So you're from Westminster, but you were actually born in Virginia, in part because in vitro fertilization was illegal in Massachusetts at the time. Why was that?

Carr: That's right. So essentially because IVF was a brand new, unknown technology that only had been successful in England. There was no public funding for IVF. And so any clinic that wanted to start and operate basically had to jump through a ton of hoops and had to be entirely privately funded. Actually, a former patient of my doctor, Georgiana Jones, is the reason that a clinic was even started at all. She actually donated just the right amount of money in order to form a clinic in Virginia.

Yuill: Now, sometimes people like you are referred to as "test tube babies," but that's not accurate, is it?

Carr: No, and it's a term I wish would go away forever and never come back. It's inaccurate because no test tubes are used at all. Actually, the term "in vitro" comes from the Latin under glass, which, you know, the procedure essentially is done in a petri dish. And so I always kind of laughed that the term test tube baby stuck because it's such a wildly inaccurate term.

Yuill: And I understand you're still very much a part of the in vitro community.

Carr: Yes, absolutely. So my day job is as a patient advocate at a pre-implantation genetic testing company called Genomic Prediction. Kind of by sideline, if you will, I have a book coming out in January about my life experience, and [I am] a patient advocate for organizations such as Resolve, the national infertility association.

Yuill: Now you've got to tell us the title of your book.

Carr: Oh, it's called "Under the Microscope" because my first "baby photo" is at 3 cells old under a Nikon microscope.

Yuill: That's pretty unique.

Carr: Yeah, absolutely. It's an interesting one to explain to friends. When they come over, they all go, "What are those three blobs?"

Yuill: That's your baby photo. That's right. Now what does your life seem like and look like now, 40 years later?

Carr: You know, it's pretty normal. You know, I just try and keep up with my 11-year-old son and my very busy and talented husband, who is a photographer and our dog. And we live a quiet life here in New Hampshire. I try to always make time for people who are struggling with infertility because I want to make sure that they know what options are out there. IVF is not the only option that's available, and it's so important for people to know about what they can do.

Yuill: But what's it like for you to know you played such a big role in helping people have the babies that they've been longing for?

Carr: My running joke is that I just showed up. I didn't do anything. My parents and the doctors and all of the people involved really did the heavy lifting. I am so humbled that I have the privilege of hearing people's very personal and painful stories when they're experiencing infertility. And to me, my parents and I have always lived by the philosophy that we wanted to tell our stories so that if it would help just one other person, then this lifelong lack of privacy essentially would be worth it.

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Elizabeth Carr, first person in the US conceived through IVF, turns 40 years old - wgbh.org

Prevalence of hypogonadism

In the Baltimore Longitudinal Study on Ageing, it was found that 19% of men over 60 years had low testosterone. The Hypogonadism in Males (HIM) study estimated the overall prevalence of hypogonadism at approximately 39% in men aged 45 years or older (18). It has been estimated that only 535% of hypogonadal males actually receive treatment for their condition (19,20).

Measuring testosterone levels in populations, while useful, is different from measuring hypogonadal symptoms. A subject can have low testosterone levels, but can also have no clinically significant symptomatology. Likewise, measurement of symptoms alone is not reliable, as hypogonadal symptoms are non-specific. The Massachusetts Male Ageing Study (MMAS) measured a combination of testosterone levels and hypogonadal symptoms and found between 6% and 12% of men had symptomatic androgen deficiency (21). An interesting observation from the MMAS was that half of the men found to have symptomatic androgen deficiency at one stage were found to be eugonadal when retested at a later stage (22). This is probably because there is subject-to-subject variation in testosterone secretion and in the testosterone threshold where symptoms become manifest. As discussed below, a measurement of low testosterone in a patient should be reconfirmed at a later stage before considering treatment.

Older men are more likely to have low testosterone levels: in the HIM study, for example, the prevalence of low testosterone in the 4554 age group was 34%, whereas it was 50% in men over 85 years (18). Likewise, in the Baltimore study the percentage of men with low testosterone increased from 12% in men in their 50s, to 49% in men over 80 years of age (23).

There appears to be no consistent evidence that the prevalence of hypogonadism differs between racial and ethnic groups (2426).

Higher rates of hypogonadism than those in the general population are associated with various common diseases or conditions. The HIM study calculated odds ratios for some common conditions (). It is not yet understood whether the low testosterone levels are a consequence of the disease, are connected with the diseases aetiology, or are one of the causes of the disease. Further studies are needed to determine if treating the associated hypogonadism is likely to improve the patients disease symptoms.

Odds ratios for hypogonadism for various comorbidities from the HIM Study (18)

Vascular tissue (including endothelium and vascular smooth muscle cells) contains androgen receptors, so it is to be expected that testosterone (or its metabolite, oestrogen) is likely to affect the cardiovascular system. In fact, the increased risk of cardiovascular disease in males compared with females has been taken to imply a role for testosterone (or oestrogen) in the disease. Human observational studies, however, have shown no associations between high testosterone levels and coronary artery disease, and testosterone has been shown to dilate the coronary arteries both in vitro and in vivo. Some studies have shown that testosterone can be considered to have a positive effect on reducing the risk factors for cardiovascular disease; for example, inverse relationships have been shown between testosterone levels and body mass index (BMI), waist circumference, waist-hip ratio, serum leptin, low-density lipoprotein (LDL) cholesterol, triglyceride and fibrinogen levels. Low testosterone is associated with dyslipidemia, hypertension, obesity and diabetes, all of which increase the risk of cardiovascular disease and are features of the metabolic syndrome (27,28).

A negative view of testosterones impact on cardiovascular disease comes from the observation that high-density lipoprotein (HDL) cholesterol levels decrease in patients on oral testosterone therapy, or when taken in supraphysiological doses by athletes (29,30). However, when given as a transdermal gel to hypogonadal men, there is either no significant change or only minor changes in HDL levels (28,31,32). Whatever the subtleties of the effects of testosterone on lipids, recent data have demonstrated that low testosterone concentrations are associated with an increased incidence of cardiovascular events, and an increase in acute myocardial infarction and stroke.

The relationship between testosterone and HDL is confounded by the fact that both HDL and testosterone are inversely related to BMI. In fact, epidemiological analyses have found that HDL levels are positively linked to testosterone levels in middle-aged men. Data from the MMAS have demonstrated that there is a strong, positive relationship between HDL and testosterone in men with cardiovascular disease (low total or free testosterone correlates with low HDL cholesterol) (31).

Recent work in the Rancho Bernardo, California population has shown that men with serum total testosterone levels in the lowest quartile (< 241 ng/dl) were associated with a higher risk (38%) of cardiovascular mortality, compared with those who have higher total testosterone levels, independent of age, obesity and lifestyle choices (33). In fact, those with low testosterone were 40% more likely to die (all-cause mortality) than those with higher levels. This is in contrast to what was found in the MMAS study where total testosterone levels were unrelated to all-cause mortality (34,35).

A meta analysis, published in 2007, of randomised trials that assessed the effect of exogenous testosterone on cardiovascular events, however, concluded that the inference that testosterone use in men is not associated with important cardiovascular effects was only weakly supported. Large randomised trials using men with and without cardiovascular disease and with cardiovascular end-points are needed to better assess the consequences of testosterone treatment on cardiovascular risk (36).

A recent study (2009) from Italy demonstrates that testosterone treatment in elderly patients with chronic heart failure improves insulin sensitivity and various cardiorespiratory and muscular outcomes (37).

In 2007, it was estimated that 23.6 million people, or 7.8% of the US population, had diabetes (38). Projections based on data from the National Health and Nutrition Examination Surveys (NHANES) show that by 2021 there are anticipated to be approximately 33 million people with diabetes in the United States, representing 13.5% of the population (39).

Low testosterone concentrations are known to occur in association with type 2 diabetes. However, clinicians have often not related low testosterone concentrations to clinical hypogonadism. The first attempt to measure free testosterone and to establish hypogonadism as a feature of male type 2 diabetes was made by Dhindsa et al. in 2004 (40). This has been confirmed in several other studies including the HIM study (41). In the HIM study, a diabetic man was approximately twice as likely to be hypogonadal compared with a non-diabetic man (18). Prevalence in diabetic men has been estimated at 3350% (18,40,42). With such a high prevalence, hypogonadism is a candidate for the most common complication of male type 2 diabetes. Analysis of gonadotropin levels demonstrates that the hypogonadism in type 2 diabetes is mostly hypogonadotropic (secondary) hypogonadism (40). There is no relation between the degree of hyperglycaemia and testosterone concentration (40,43).

C-reactive protein, a marker for systemic inflammation, has been found to be markedly elevated in patients with secondary hypogonadism and type 2 diabetes. The concentrations of C-reactive protein in these patients are twice as high as those in eugonadal type 2 diabetics, whose C-reactive protein levels are already elevated compared with non-diabetics. Such patients have also been shown to have mild anaemia, low bone mineral density (BMD) in the arms and ribs, and increased adiposity when compared with eugonadal type 2 diabetics (44,45). These features are similar to those of hypogonadal patients without diabetes. Another intriguing observation is that prostate-specific antigen (PSA), a marker for prostate cancer, is significantly lower in type 2 diabetics and this is related to their lower plasma testosterone concentrations (46). The clinical significance of this remains to be elucidated.

Interestingly, low testosterone concentrations predict the development of type 2 diabetes. Utilising data from the NHANES III survey, it was found that men in the lowest free testosterone tertile were four times as likely to have diabetes as those in the highest free testosterone tertile (47).

Type 1 diabetes does not seem to be associated with hypogonadism, suggesting that hypogonadism is specific to type 2 diabetes and not related specifically to hyperglycaemia (43).

Obesity amongst adult men had a prevalence of 33.3% in 20052006 according to the most recent NHANES review (48). An adult who has a BMI between 25 and 29.9 kg/m2 is considered overweight, whereas an adult who has a BMI of 30 kg/m2 or higher is considered obese. This is not a rigid rule as BMI does not directly measure body fat, so athletes, for example, may have high BMIs even though they are not overweight (49).

The health risks associated with obesity are well known, increasing the risk for type 2 diabetes, hypertension, atherosclerotic diseases and coronary heart disease. Obesity is strongly associated with type 2 diabetes: approximately 83% of diabetic patients are overweight or obese (50). Obesity is also associated with low total testosterone and reduced SHBG levels. There is an inverse linear relationship between total testosterone and BMI, and free testosterone concentrations also decrease with increasing BMI. There is an inverse relationship between serum total and free testosterone levels and visceral fat mass. Thus, the degree of hypogonadism is positively correlated to the degree of obesity in obese men (51,52).

A person with metabolic syndrome is defined as having central obesity in addition to any two of these four factors: hypertension ( 130/85 mm Hg), reduced HDL (< 40 mg/dl in males), raised triglycerides ( 150 mg/dl) or raised fasting plasma glucose ( 100 mg/dl)(53). It is considered a high risk for coronary heart disease (19,54). As the constituent elements of metabolic syndrome are themselves correlated with testosterone concentrations, it is perhaps not surprising that hypogonadism is also associated with the metabolic syndrome, as has been shown in a number of epidemiological studies (55,56).

Low testosterone levels are correlated with insulin resistance in both epidemiological and interventional studies, and this may be attributable to the effect of testosterone on adiposity. Low testosterone levels increase fat mass and decrease lean muscle, resulting in increased adipose tissue (52).

Adipose tissue affects testosterone levels by increasing the aromatisation of testosterone to estradiol, because the aromatase enzyme is concentrated in adipocytes. This reduces serum and tissue testosterone levels. The estradiol produced by aromatisation also provides negative feedback on the HPG axis, further reducing testosterone. Thus, adiposity potentially leads to hypogonadism, which itself promotes further adiposity. illustrates the main hypogonadal-obesity-insulin resistance connections and also includes other factors such as TNF- (an adipokine), which is elevated in obese males (42,51,57,58).

The interrelationship between hypogonadism and insulin resistance (after (42,51)). LH, luteinizing hormone. Low testosterone stimulates an increase in adiposity. Adipose tissue contains high concentrations of aromatase, which reduces testosterone concentrations by converting it to estradiol. The estradiol negatively feeds back on the HPG system, reducing testosterone production in the Leydig cells. Increasing adipose tissue increases insulin resistance, which negatively impacts the Leydig cells as well as inhibiting the release of luteinizing hormone (LH) via the release of adipokines (inflammatory cytokines) such as TNF-. Leptin, released in response to increased adiposity, also inhibits the release of LH via its effect on the release of gonadotropin-releasing hormone

However, it seems likely that testosterone may suppress insulin resistance independently of its effects on adiposity. The withdrawal of testosterone therapy in hypogonadal patients that had been stabilised on this therapy leads to an increase in insulin resistance within 2 weeks and prior to significant weight gain (59). A recent study showed that supervised diet and exercise increased testosterone levels in hypogonadal men with metabolic syndrome and newly diagnosed type 2 diabetes. In addition, a small dose (50 mg/day) of testosterone gel improved both glycemic control and insulin sensitivity over and above the improvements because of diet and exercise (60). The mechanism underlying the insulin sensitising effects of testosterone needs to be elucidated.

An important proviso to this discussion is that further research into the role of hypogonadism in obesity, metabolic syndrome and diabetes is required to gain a better understanding of the pathogenic mechanisms involved and that, at present, it is not known whether hypogonadism is the cause or the consequence of these conditions.

Osteoporosis is an under-recognised problem in men. Ten to twenty per cent of individuals with osteoporosis over 50 years old in the United States are men (25). Up to 13 million men are at increased risk because of low BMD and up to 2 million of these have osteoporosis (61,62). Men have almost 30% of all hip fractures and men are twice as likely to die in hospital than women after a hip fracture. Hip fracture incidence is low until after 75 years, when the risk increases exponentially. Vertebral fractures are also common, although they are only about half as common in men compared with women (63).

There are many suspected causes of osteoporosis, and the most frequent are corticosteroid use, Cushings syndrome, hypogonadism and excessive alcohol consumption. In a study of elderly men in a nursing home who have experienced hip fractures, 66% were hypogonadal (64).

Other common secondary causes are smoking, low calcium intake and vitamin D deficiency or insufficiency (61).

Various epidemiological studies in men have examined associations between testosterone and estradiol levels and BMD. Estradiol levels in men have been consistently and positively associated with BMD. Testosterone is also positively associated with BMD, but the relationship is weaker than that of estradiol (65,66).

Interventional studies have shown that testosterone replacement therapy in hypogonadal males increased spine BMD and trabecular connectivity (61,67). However, studies of testosterone therapy in men with osteoporosis are limited and none have used fractures as an end-point; so although there is significant evidence of an association between hypogonadism and osteoporosis, there is no established causal link between the two.

Testosterone levels are lower in men being treated with corticosteroids. Systemic glucocorticoids can reduce testosterone biosynthesis in the testis; in addition, glucocorticoids impact the HPG axis by inhibiting the release of LH (17,68). As a result, patients being treated with glucocorticoids for such chronic conditions as rheumatoid and osteoarthritic inflammation, skin inflammations, asthma, chronic obstructive pulmonary disease (COPD) and inflammatory bowel disease are at an increased risk of hypogonadism.

There have been some studies that suggest that COPD patients have a higher incidence of hypogonadism than the general population and that glucocorticoid treatment is only part of the reason. The pathophysiology of this remains unclear, but suggestions have been made that it might be connected with chronic hypoxia, and a systemic inflammatory response (68). A number of studies have shown that testosterone therapy can improve lean body mass and BMD and strength in hypogonadal men with COPD (17).

Long-acting opioids such as methadone, morphine sulphate, fentanyl and oxycodone for the treatment of chronic pain often result in opioid-induced androgen deficiency (OPIAD). In a casecontrol study of 40 cancer survivors it was found that 90% of those on opioid treatment were hypogonadal compared with only 40% of the control group (69). The mechanism for OPIAD is thought to involve suppression of GnRH release by the hypothalamus, thereby inducing secondary hypogonadism (17,70).

Apart from the effects of testicular cancers, which may have a direct impact on testosterone secretion, the prolonged radiation treatment, chemotherapy using antimitotic drugs or corticosteroids or pain treatment medications characteristic of cancer treatment are likely to induce hypogonadism (17). These drugs may induce Leydig cell dysfunction or germinal epithelial failure (71). The HPG axis may also be affected by androgen-, or ectopic adrenocorticotropin hormone-producing tumours, leading to secondary hypogonadism (17).

Androgen deficiency is strongly associated with AIDS wasting syndrome, and testosterone therapy in HIV-positive hypogonadal men increases lean body and muscle mass and perceived well-being, and decreases depression (7274). Approximately 2050% of HIV-infected men receiving highly active antiretroviral therapy are hypogonadal. While these prevalence levels may superficially appear similar to the background figures in the population, most studies are based on middle-aged populations. HIV patients with AIDS are younger and therefore, comparisons have to be carried out with appropriately age-matched controls.

The cause of this hypogonadism is probably as a result of a number of factors, including lipodystrophy induced by highly active retroviral medications; testicular atrophy caused by opportunistic infection; disruption of the HPG axis resulting from malnutrition; and the results of medications such as the antimycotic ketoconazole, which inhibits steroid biosynthesis (17).

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A practical guide to male hypogonadism in the primary care ...

This article was originally published here

J Diabetes Res. 2021 Dec 20;2021:1347588. doi: 10.1155/2021/1347588. eCollection 2021.

ABSTRACT

INTRODUCTION: To evaluate whether waist circumference (WC) or hyperglycemia is more closely associated with hypogonadism in middle-aged men. Research Design and Methods. This cross-sectional study analyzed male participants under 65 years old from the MJ Health Screening Center in Taiwan from 2007 to 2016. Basic patient characteristics with relevant parameters were obtained. We used the chi-square test to perform a correlation analysis for HbA1c and WC between participants with and without hypogonadism. A one-way ANOVA with post hoc Scheffes method was applied to compare the mean testosterone (T) among the HbAlc and WC groups (normal blood sugar with normal WC (NBSNW), abnormal blood sugar with normal WC (ABSNW), normal blood sugar with abnormal WC (NBSAW), and abnormal blood sugar with abnormal waist circumference (ABSAW)).

RESULTS: The 5,680 participants were divided into two groups based on the presence (n = 599) or absence of hypogonadism (n = 5,081), which was defined as total testosterone (TT) < 300 ng/dL. The mean TT of group NBSAW (443.71 220.59 ng/dl) was significantly lower than that of group ABSNW (506.64 191.08 ng/dl, p < 0.001). Moreover, the mean TT of group ABSAW (398.89 146.24 ng/dl) was significantly lower than that of group ABSNW (506.64 191.08 ng/dl, p < 0.001). The ORs after adjusting for BMI, TG, HDL, SBP, and DBP were statistically significant when comparing NBSAW vs. NBSNW (OR = 2.846; 95%CI = 2.266-3.575; p < 0.001), ABSNW vs. NDNW (OR = 1.693; 95%CI = 1.309-2.189; p < 0.001), and ABSAW vs. NBSNW (OR = 4.613; 95%CI = 3.634-5.856; p < 0.001).

CONCLUSION: The current study showed that WC should be the risk factor that is more closely associated with hypogonadism than hyperglycemia in middle-aged men.

PMID:34966822 | PMC:PMC8712173 | DOI:10.1155/2021/1347588

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Waist Circumference Is More Closely Associated with Hypogonadism than Is Hyperglycemia, Independent of BMI in Middle-Aged Men - DocWire News