StemCell Therapy

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Dubai: It's an industry on the rise, driven by social media before-and-after ads.

And it's ramping up the speed by which Dubai is fast becoming the "new Beverly Hills of the Middle East."

Already, cosmetic surgery has topped the list in medical tourism in Dubai. According to a Dubai Health Authority (DHA) report, the emirate has the highest number of cosmetic surgeons per capita in the region about 50 specialists for a million people.

It's a huge market.And a money-spinner: Price ranges from Dh150-250 for a filler to Dh40,000 for a detailed body sculpting procedure.

Globally, the cosmetic surgery market size is projected to reach $21.97 billion with 7.8% annual growth rate by 2023, according to a Medgadget report.

These are the most common surgery options:

To put this in perspective, we talked to several people.

Myra J., a belly dancer working at a Dubai hotel. She was unhappy. Saddle bags on her thighs were making her performance less graceful. She honestly feared she would be jobless soon.

On a weekend, she checked into a leading aesthetic clinic and the surgeon trimmed the pockets of fat around her thighs, sculpting her body back into perfect shape.

It took her a week to recover and get back to work, but she is delighted with her shapely thighs and feels happier than ever before.

'Ageing gracefully'

Nina M., (52), always loved how beautiful her eyes were and how youthful her cheeks looked.

Last year, nowever, as she got busy with her sons marriage preparations, she started to experience bouts of anxiety at the sight of slowly encroaching bags under her eyes and a slight droop in her cheeks.

I wanted to look and feel my best and thought a filler and a round of botox were harmless indulgences. It took me just an hour at the clinic and the results were amazing. I am glad I was able to stop the onslaught of aging in time.

"Its beautiful to age gracefully, but we all do use creams and gels to delay the process. I think of these minor injectibles as tools in our make-up bag.

"I have used fillers and Botox twice since last year, combined with my beauty regimen. I feel it has given me not just confidence but also psychological boost. I would recommend it to everyone.

Anna M was a physical trainer but vexed with her body shape as she had a masculine build.

- Anna M, a physical trainer

This was affecting her work. Most women were intimidated by her personality and she was losing self-confidence.

Four years ago, she went in for breast implants and her life changed.

Addiction to surgery?

People talk about getting addicted to cosmetic surgery. But that is not so. Most people approach a cosmetic surgeon only when they cannot deal with a physical issue themselves and just like one needs medicine when one is ill, cosmetic surgery acts as a solution to boost confidence and self-esteem.

"Look at how people have reclaimed their health with gastric bypass!

- Dr Sanjay Parashar, chairman, Scientific of the Emirates Plastic Surgery Society

Changing the world one person at a time and providing them with an incredible burst of confidence, aesthetic and cosmetic surgeons in the UAE have built a practice of reliability that can take as little as one hour to a day to transform your personality.

Welcome to the multi-million dirham cosmetic surgery industry in the UAE.

It is the toast of medical tourism in the region, with a high footfall of Gulf and Asian medical tourists as well as resident expatriates.

The industry has accelerated at a speed that is making Dubai be hailed as the new Beverly Hills of the Middle East.

Cosmetic or Plastic Surgery?

These are two different concepts. Cosmetic surgery refers to aesthetic surgery and revolves around enhancement of physical features of an individual and is elective.

This includes procedures such as:

Plastic surgery, on the other hand, is a surgical speciality dealing with life-saving procedures of re-construction of the face and body owing to congenital defects, disfigurement due to accident, trauma, burns, tumour removal due to diseases such as cancer.

In most cases, plastic surgery is not elective.

Dh12b Medical tourism sales in 2018

Since the time pop stars began to inundate Instagram with images of their perfect bodies, dazzling smiles, flawless skin and enviable hair volume, elective procedures have become commonplace with teenagers as young as 13 who are going in for instant fixes.

While some procedures require a couple of days of hospital stay and being out of circulation for a while, many quick fixes are carried out during lunch breaks in one-hour durations.

Highest per capita cosmetic surgeons in UAE

Dr Sanjay Parashar, chairman, Scientific of the Emirates Plastic Surgery Society, told Gulf News: Cosmetic surgery tops the list in medical tourism in Dubai and according to a 2015 report of Dubai Health Authority (DHA), Dubai has the highest number of cosmetic surgeons per capita in the region about 50 specialists for a million people.

- Dr Zuhair Al Fardan, President of the Emirates Plastic Surgery

Dr Parashar added: The field has grown beyond expectations and much of the credit goes to the development of a world-class infrastructure in this field and the corresponding health regulations.

"Today, in Dubai, most Day Care Surgery centres where most of the plastic surgery procedures are carried out have the best international accreditations.

Dr Zuhair Al Fardan, President of the Emirates Plastic Surgery, said: Much of the advancement in plastic and cosmetic surgery is work in progress as surgeons are constantly upgrading themselves with techniques, technologies.

The UAE is keeping abreast of the best that is taking place in the world. In the last five years or so, there have been tremendous advancements in cosmetic and plastic surgery in the UAE.

BEVERLY HILLS AND PLASTIC SURGERY

It's where leading practitioners are rated by customers who give feedback and grade their experience with plastic surgeons according to a five-star rating system.

In this posh district, located within 5.7 square miles and surrounded by the cities of Los Angeles and West Hollywood, one of most popular procedures is breast augmentation, according to online directory and crowd-sourced review forum Yelp.

"We have the top plastic surgeons of the world come here to do surgeries and the UAE hosts two major international plastic surgery conferences each year.

Soaring revenues

With greater acceptance and broadening of scope for the discipline, it is evident that plastic surgery is a major revenue earner and places UAE as one of the leading medical tourism destinations in the region.

From a price range of Dh150-250 for a filler to Dh40,000 for a detailed body sculpting procedure, these procedures are money-spinners.

Together, the plastic and cosmetic surgery is a multimillion dirham business in the UAE. While there are no exact figures available, safe estimates can be made, say surgeons.

MULTIMILLION BUSINESS

There are 30 hospitals in Dubai, of which 70 per cent are internationally accredited. The emirate aims to build 22 hospitals by 2020 18 private and 4 public hospitals.

In Dubai, at least 50 per cent of its 30 hospital offer cosmetic and plastic surgery options.

30 number of hospitals in Dubai, of which 70 per cent are internationally accredited

Besides that there are about 150 Day Care Surgery centres and 400 aesthetic clinics in Dubai.

All of them offer a bouquet of cosmetic surgery procedures and their average annual revenue is between Dh4-6 million a year.

400 Number of aesthetic clinics in Dubai

If one were to compute that with the numbers of facilities including hospitals, the annual revenue from cosmetic surgery would run into many millions of dirhams annually.

High on medical tourism

Currently, Dubai aims to attract 500,000 medical tourists a year by end 2020.

In a short priod of time, Dubai has managed to be ranked 17 among the top 25 global destinations for medical tourism and cosmetic surgery, along with fertility, orthopaedic, dental and wellness disciplines in the list of most-billed medical procedures.

40% percentage of tourists who come to Dubai come only for medical tourism. Medical tourism sales topped Dh12 billion in 2018, a 5.5% jump in the number of medical tourists

Based on official data, about 46 per cent of the current medical tourists in Dubai come from Asian countries. About a quarter (25 per cent), come from GCC and Arab countries and 13 per cent from African countries, and the remaining 16 per cent from other countries, mainly the UK and Commonwealth of Independent States (CIS) countries.

In fact, 40 per cent of tourists who come to Dubai come only for medical tourism.

- Dr Francis Conroy, consultant plastic, cosmetic and reconstructive surgeon at the American Hospital, Dubai

Medical tourism sales topped Dh12 billion in 2018, with a 5.5 per cent overall increase in medical tourists.

Medical tourists

Dubai attracted a total of 640,542 international and domestic medical tourists in 2018 (51 per cent were international patients).

European tourists consisting mostly of UK, French and Italian citizens, share 16 per cent of health and wellness tourists.

A substantial medical tourism revenue, it is evident, is earned through plastic and cosmetic surgery.

Dr Francis Conroy, consultant plastic, cosmetic and reconstructive surgeon at the American Hospital, Dubai, remarked: American Hospital Dubai, is one of the few facilities offering both comprehensive reconstructive and cosmetic surgery services.

"Our plastic surgeons are fully trained in both reconstructive and cosmetic surgery so we see a wide-ranging case mix, from severe trauma cases to cancer cases and of course, those opting for cosmetic surgery."

Most popular cosmetic surgery

Typically, these patients would be female, who done with having children and raising them, now wish to address the changes in their body. I also see a large number of male patients who want to correct problems associated with their chest with the help of liposuction.

Source: Dr Francis Conroy, consultant plastic, cosmetic and reconstructive surgeon at the American Hospital, Dubai

Most popular cosmetic surgery

"Typically, these patients would be female, who done with having children and raising them, now wish to address the changes in their body. I also see a large number of male patients who want to correct problems associated with their chest with the help of liposuction, said Dr Conroy.

Non-surgical treatments (neuro-modulators, fillers, etc) are still very popular and I have seen a trend in that patients are starting with such treatments at an earlier age.

Given the prestigious reputation of the hospital and the Dubai governments plan to promote medical tourism, I have noticed a huge influx of patients from Africa, Nigeria and Ghana in particular.

"These patients come mainly for cosmetic surgery, knowing that they are in the hands of a highly qualified surgeon, in a safe, luxurious facility, with standards second to none, said Dr Conroy.

Top six cosmetic surgery procedures in town

The procedures can be divided into categories:

Does health insurance cover plastic surgery?

"Reconstructive surgery such as correction of birth deformities such as a tuberous breast, cleft lip, hand deformities, skin transplant following burns, road trauma and breast augmentation and reconstruction following a mastectomy and rebuilding after a tumour resection is all covered under all leading health insurances. There is also new kinds of stem cell therapy being used to regenerate tissues and nerves especially in diabetic patients.

Know the rules:

The DHA has made it mandatory for all Day Care Surgery Centres, most of who carry out aesthetic procedures, to have one leading international accreditation from Canada, US, UK or Australia.

These accreditations were earlier mandatory for hospitals only, but from 2020, all Day Care Surgery centres compulsorily must have an international accreditation.

This ensures that an independent, international medical body enforces global health standards to grant them certification and in case of a sentinel event, conducts its independent inquiry and downgrades these places in case of a serious lapse.

DHA on its own has issued a 25-page manual on quality and regulations that is to be followed at all centres.

A close examination of the Day Care Surgery centres indicates several layers of quality control.

Pre surgery quality

This involves free consultation, especially in case of a second opinion or a first time patient seeking to enquire about a procedure based on his/her requirement. When a patient uploads a request on the website of a centre from anywhere in the world, the centre has to provide a detailed consultation free of charge.

Services available to a patient

Once the patient is convinced and comes in person to consult the doctor, quality is upheld in the pre-diagnostic tests that the patient has to undergo.

Infrastructure quality

DHA has graded Day Care Centres into A, B and C categories based on the level of medical facilities that can be accessed by a patient. Anaesthesia methods such as oral, epidural and general also help classify centres. For instance, hair transplant procedures can only be carried out in B and above grade clinics. Day Care Centres that conduct surgeries under general anaesthesia much be equipped with the Advance Cardiac Life Support (ACLS) with their surgeons and registered nurses being certified as trained in administering ACLS to a patient.

Patient safety protocol

There are very specific guidelines for patient safety and the doctor/surgeon must explain the procedure in detail to the patient and his/her family and obtain a written consent to go ahead after ascertaining that all risks and side-effects have been clearly explained to the patient.

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Dubai is the 'new Beverly Hills of the Middle East': Here's why - Gulf News

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Stem Cell Assay Market to Expand Substantially Owing to Technological Innovations During 2016 2024 - Instant Tech News

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Cell Culture Products Market Analysis And Demand With Forecast Overview To 2026 - News Times

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Balanced Salt Solutions Market Strategies and Insight Driven Transformation 2020-2026 - Nyse Nasdaq Live

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Ms. Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Ms. Super exercises routinely and eats what is known as a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Ms. Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Dr. Gefen of Northwestern said she tells patients that if cognitive testing is something thats going to stress you out, then dont do it.

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, his mother was still living in the familys large home in Brookline, Mass., which she refused to leave.

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Stalked by the Fear That Dementia Is Stalking You - The New York Times

STATEN ISLAND, My wife Joan has diabetes. It evidences itself upon her in many ways. There are various forms of opathies involved, that affect your limbs and eyes. Joan uses her eyes a lot for her work as a photo editor. So, when she started experiencing some problems lately, we took several visits to her eye doctor. No pun intended, but those visits were eye openers.

Her doctors first suggestion was to get better lighting. An LED lamp we bought on New Dorp Lane had a semi-hefty price tag. The event that got me going was, when she needed eye salve for an infection, the price originally quoted was $247. For a very tiny tube of ointment.

The next day, because Joan and the pharmacist kept asking questions, the price dropped to $12. Several people I know have similar stories. The threat of Big Pharma is no fairy tale meant to scare little kids. The pharmaceutical companies in the USA prey on the weak, the older and the sick to make their nut. Louis Black often asks when health care became a for profit industry. Good question.

During one of our visits, I spied an eye chart that had various facts printed at various font sizes, to test peoples acuity. The facts alone made me want to tear my eyes out!

(1) Tobacco use increases the rick of macular degeneration, which is the leading cause of blindness in people 65 and older, more than cataracts and glaucoma.

Macular degeneration is caused by the deterioration of the central portion of the retina, which controls the eyes ability to focus, which affects driving, reading, seeing details.

(2) An annual eye exam is recommended for all people 65 and over as well as for those people with diabetes.

TAKE A STEP BACK

Hered be a good place to pause and discuss diabetic retinopathy.

It causes weakened blood vessels in the eye to leak, bleed and become blocked. If untreated, it can lead to blindness. Early detection, treatment via diet, exercise, laser and, in extreme cases, surgery is indicated. The cause is usually the peaks and valleys in blood sugar levels that people with diabetes often experience. So, as well as not having a working pancreas, people with diabetes can expect loss of feeling in their hands and feet (which sometimes means you can injure yourself and not feel it, leading to further complications) and, in some cases, loss or sight, partially or totally.

People with diabetes have to be resilient, courageous and brave. An occasional kickboxing class might also come in handy!

(3) In the next 30 years, the number of people over 65 with vision impairments will double. We have more baby boomers on Staten Island than on any other borough. And the first one ya to do that OK. line on me gets a shot in the eye on the house!

Seriously, is this not enough to make you run screaming into a hallway? Frequent readers of this column know I heartily endorse preventive medicine, because its much better to get treatment before a crisis occurs than after. Many people are afraid of visiting doctors too often because of the expense or because theyre afraid that a doctor will find something they dont want to know about.

Question: Who would you rather have find something.your spouse or a highly trained professional that will actually be able to do something about whatever it is that they find?

Im thinking now of that scene in This is 40 where Paul Rudd asks Leslie Mann to check out what he thinks might be an anal fissure. A strategically placed mirror avoids embarrassment during this scene and focuses solely on the laugh.

LENDING SUPPORT

But, seriously, as much as we love our spouses, unless were medically trained, theres little we can do for them but to go with them to appointments and hold their hand, be a second pair of ears and eyes, and just be there for moral support, in general.

Oh, and taking them to the Hylan Diner afterwards. They make really good omelettes! (Sorry, Victoria Priola! I know thats YOUR beat!)

And when things get rough, we have to stand by each other even more. Joan and I have seen our share of health crises..broken limbs, pneumonia, comas, anxiety attacksevery time you come through something together, youre stronger because of it. Too many in a row and you may weaken. It helps to take time out every once in awhile. Take a day trip, or visit somewhere for five days. Have things you do together and things you do separately. Date nights rule. And, when the kids are out of the house, you can use all that time you spent cleaning their rooms, washing their laundry and picking up their coffee cups for..uh.other activities.

LETS SEE A SMILE

We should never take each other for granted. Because, you just dont know. So, live every day, laugh every day, tell your significant other you love them at least once a day. Make sure they know they have an ally in this world that wont disappear when the going gets tough.

After all, thats what you need as well!

Hold those grey heads up!

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The Old Guy: Loving support for a partner with health concerns - SILive.com

At a makeshift camp in Matamoros, tents crowd a muddy levee, housing around 2,500 migrants. Families cook on homemade stoves built out of old washing machines. From a trailer, Dr. Maura Sammon, the medical director for Global Response Management, leads a team of doctors, some of whom are migrants themselves.

Dr. Sammon said the team treated at least 40 patients a day. She listed the more serious medical issues: sickle cell anemia, hypoxia, third-degree burns and sepsis. Other patients included a 70-year-old with chest pains, children with epilepsy or development disorders, a migrant with H.I.V. as well as one with ovarian cancer.

This is 100 percent a creation of M.P.P., Dr. Sammon said. It is not a virtual wall it is a wall. You see how close that river is. You see people looking at that river every day and saying, The United States is right there.

Her team sends patients in need of emergency care to a nearby hospital, but the care can be inadequate. A boy who went to the hospital with appendicitis was discharged, then his appendix ruptured, Dr. Sammon said. Some migrants refuse to go to the hospital for fear of being kidnapped by cartel organizations, the same threat that prompted the State Department to advise Americans not to travel to Matamoros. On Thursday, a drive-by shooting near the camp forced the evacuation of Dr. Sammons medical team.

Homeland security officials say the new asylum policy, more commonly known as Remain in Mexico, quelled a surge of migration last year and eased overcrowded detention facilities in the United States. Forcing migrants to wait in Mexico has also discouraged those unlikely to qualify for asylum from participating in the process, officials say.

A medical issue by itself usually has not been enough to gain entry into the United States, and was rarely grounds for a claim of asylum, typically granted to those fleeing political oppression and violence. Foreigners with health conditions typically have obtained visitor visas and must prove they can sufficiently pay for medical treatment in the United States.

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He Turned Purple: U.S. Overlooks Ill Asylum Seekers - The New York Times

SAN FRANCISCO Be My Eyes, the mobile app that allows anyone to assist visually impaired people through live video calls, has raised $2.8 million in funding. The investment allows the company to further develop its purpose and profit business model while keeping the visual support service free and unlimited for all visually impaired users, according to a press release.

The Series A round, led by Cultivation Capital, also welcomed new board members Paul Weber (Cultivation Capital) and Michael Buckley (angel investor and former vice president of global communications at Facebook). Be My Eyes has previously been backed by angels and investment funding from the likes of Singularity University, the founders of Zendesk and the LightHouse for the Blind and Visually Impaired in San Francisco.

Be My Eyes solves a simple problem for users: It calls up a real person, on demand, to describe whats in front of a blind users camera. Initially supported entirely by volunteers, Be My Eyes recently announced that it would begin partnering with companies to provide expert-level support through a new feature in the app (Specialized Help). Microsoft signed on as Be My Eyes first video support partner in 2018, followed by Google, Lloyds Banking Group, and Procter & Gamble, who now all provide video customer support to the BME community, which spans more than 175 countries. Companies can provide Specialized Help globally or by region, and support services are free to Be My Eyes users.

In call centers around the world, weve seen the Be My Eyes software greatly reduce ticket handling times and increase satisfaction rates, from both support agents and blind or low vision callers, says Alexander Hauerslev Jensen, chief commercial officer at Be My Eyes. Whats more, each call that a company receives brings attention to parts of the product or service that can be designed more inclusively.

Kyndra LoCoco, partner and programs manager at Google Accessibility, added, The Google Disability Support team is thrilled to be building a more accessible support experience through the Be My Eyes app. Its our hope that others join us on this journey.

With a community of users that has doubled in size each year since 2015, Be My Eyes micro-volunteering platform has become beloved amongst blind and sighted users alike, according to the release.

Fueled by inspiring stories and viral social media posts of strangers connecting across oceans to help one another, the small startup has amassed what amounts to the worlds largest global community of visually impaired people (almost 200,000), and a volunteer community many times that size (more than 3.5M).

Be My Eyes is a great example of how technology can help bring communities together and empower people who are blind or with low vision, says Neil Barnett, director of inclusive hiring and accessibility at Microsoft. By working together with Be My Eyes, their incredible sighted volunteers, and the growing community of organizations participating in the Specialized Help program, we can help more people around the world live independent lives. We are honored to be part of this vibrant community and provide support for all of their customers through our Disability Answer Desk services.

As we grow and age, we all need help seeing at some point, says Be My Eyes CEO Christian Erfurt, who co-founded the company with a legally blind craftsman named Hans Jrgen Wiberg in 2014. Its been a pleasure to see that not only do people want to give their time to support this large population but companies want to make their customer service offerings more accessible. For them, weve built a simple but beautiful tool.

Erfurt says the corporate partnership business model was conceived so that Be My Eyes will never have to charge blind users for the service. We believe that access to sight is a human right, and you dont charge people for that.

Watch a video about the service:

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Be My Eyes Raises $2.8M in Funding for App to Support Blind and Visually Impaired - InvisionMag

Heart disease is the primary cause of death worldwide, principally because the heart has minimal ability to regenerate muscle tissue. Myocardial infarction (heart attack) caused by coronary artery disease leads to heart muscle loss and replacement with scar tissue, and the heart's pumping ability is permanently reduced. Breakthroughs in stem cell biology in the 1990s and 2000s led to the hypothesis that heart muscle cells (cardiomyocytes) could be regenerated by transplanting stem cells or their derivatives. It has been 18 years since the first clinical trials of stem cell therapy for heart repair were initiated (1), mostly using adult cells. Although cell therapy is feasible and largely safe, randomized, controlled trials in patients show little consistent benefit from any of the treatments with adult-derived cells (2). In the meantime, pluripotent stem cells have produced bona fide heart muscle regeneration in animal studies and are emerging as leading candidates for human heart regeneration.

In retrospect, the lack of efficacy in these adult cell trials might have been predicted. The most common cell type delivered has been bone marrow mononuclear cells, but other transplanted cell types include bone marrow mesenchymal stromal cells and skeletal muscle myoblasts, and a few studies have used putative progenitors isolated from the adult heart itself. Although each of these adult cell types was originally postulated to differentiate directly into cardiomyocytes, none of them actually do. Indeed, with the exception of skeletal muscle myoblasts, none of these cell types survive more than a few days in the injured heart (see the figure). Unfortunately, the studies using bone marrow and adult resident cardiac progenitor cells were based on a large body of fraudulent work (3), which has led to the retraction of >30 publications. This has left clinical investigators wondering whether their trials should continue, given the lack of scientific foundation and the low but measurable risk of bleeding, stroke, and infection.

Additionally, investigators have struggled to explain the beneficial effects of adult cell therapy in preclinical animal models. Because none of these injected cell types survive and engraft in meaningful numbers or directly generate new myocardium, the mechanism has always been somewhat mysterious. Most research has focused on paracrine-mediated activation of endogenous repair mechanisms or preventing additional death of cardiomyocytes. Multiple protein factors, exosomes (small extracellular vesicles), and microRNAs have been proposed as the paracrine effectors, and an acute immunomodulatory effect has recently been suggested to underlie the benefits of adult cell therapy (4). Regardless, if cell engraftment or survival is not required, the durability of the therapy and need for actual cells versus their paracrine effectors is unclear.

Of particular importance to clinical translation is whether cell therapy is additive to optimal medical therapy. This remains unclear because almost all preclinical studies do not use standard medical treatment for myocardial infarction. Given the uncertainties about efficacy and concerns over the veracity of much of the underlying data, whether agencies should continue funding clinical trials using adult cells to treat heart disease should be assessed. Perhaps it is time for proponents of adult cardiac cell therapy to reconsider the approach.

Pluripotent stem cells (PSCs) include embryonic stem cells (ESCs) and their reprogrammed cousins, induced pluripotent stem cells (iPSCs). In contrast to adult cells, PSCs can divide indefinitely and differentiate into virtually every cell type in the human body, including cardiomyocytes. These remarkable attributes also make ESCs and iPSCs more challenging to control. Through painstaking development, cell expansion and differentiation protocols have advanced such that batches of 1 billion to 10 billion pharmaceutical-grade cardiomyocytes, at >90% purity, can be generated.

Preclinical studies indicate that PSC-cardiomyocytes can remuscularize infarcted regions of the heart (see the figure). The new myocardium persists for at least 3 months (the longest time studied), and physiological studies indicate that it beats in synchrony with host myocardium. The new myocardium results in substantial improvement in cardiac function in multiple animal models, including nonhuman primates (5). Although the mechanism of action is still under study, there is evidence that these cells directly support the heart's pumping function, in addition to providing paracrine factors. These findings are in line with the original hope for stem cell therapyto regenerate lost tissue and restore organ function. Additional effects, such as mechanically buttressing the injured heart wall, may also contribute.

Breakthroughs in cancer immunotherapy have led to the adoption of cell therapies using patient-derived (autologous) T cells that are genetically modified to express chimeric antigen receptors (CARs) that recognize cancer cell antigens. CAR T cells are the first U.S. Food and Drug Administration (FDA)approved, gene-modified cellular pharmaceutical (6). The clinical and commercial success of autologous CAR T cell transplant to treat B cell malignancies has opened doors for other complex cell therapies, including PSC derivatives. There is now a regulatory path to the clinic, private-sector funding is attracted to this field, and clinical investigators in other areas are encouraged to embrace this technology. Indeed, the first transplants of human ESC-derived cardiac progenitors, surgically delivered as a patch onto the heart's surface, have been carried out (7). In the coming years, multiple attempts to use PSC-derived cardiomyocytes to repair the human heart are likely.

What might the first human trials look like? These studies will probably employ an allogeneic (non-self), off-the-shelf, cryopreserved cell product. Although the discovery of iPSCs raised hopes for widespread use of autologous stem cell therapies, the current technology and regulatory requirements likely make this approach too costly for something as common as heart disease, although this could change as technology and regulations evolve. Given that it would take at least 6 months to generate a therapeutic dose of iPSC-derived cardiomyocytes, such cells could only be applied to patients whose infarcts are in the chronic phase where scarring (fibrosis) and ventricular remodeling are complete. Preclinical data indicate that chronic infarcts benefit less from cardiomyocyte transplantation than do those with active wound-healing processes.

Adult cells from bone marrow or the adult heart secrete beneficial paracrine factors but do not engraft in the infarcted heart. Pluripotent stem cells give rise to cardiomyocytes that engraft long term in animal models, beat in synchrony with the heart, and secrete beneficial paracrine factors. Long-term cardiomyocyte engraftment partially regenerates injured heart, which is hypothesized to bring clinical benefits.

The need for allogeneic cells raises the question of how to prevent immune rejection, both from innate immune responses in the acute phase of transplantation or from adaptive immune responses that develop more slowly through the detection of non-self antigens presented by major histocompatibility complexes (MHCs). A current strategy is the collection of iPSCs from patients who have homozygous MHC loci, which results in exponentially more MHC matches with the general population. However, studies in macaque monkeys suggest that MHC matching will be insufficient. In a macaque model of brain injury, immunosuppression was required to prevent rejection of MHC-matched iPSC-derived neurons (8). Similarly, MHC matching reduced the immunogenicity of iPSC-derived cardiomyocytes transplanted subcutaneously or into the hearts of rhesus macaques, but immunosuppressive drugs were still required to prevent rejection (9).

Numerous immune gene editing approaches have been proposed to circumvent rejection, including preventing MHC class I and II molecule expression, overexpressing immunomodulatory cell-surface factors, such CD47 and human leukocyte antigen E (HLA-E) and HLA-G (two human MHC molecules that promote maternal-fetal immune tolerance), or engineering cells to produce immunosuppressants such as programmed cell death ligand 1 (PDL1) and cytotoxic T lymphocyteassociated antigen 4 (CTLA4) (10). These approaches singly or in combination seem to reduce adaptive immune responses in vitro and in mouse models. Overexpressing HLA-G or CD47 also blunts the innate natural killer cellmediated response that results from deleting MHC class I genes (11). However, these manipulations are not without theoretical risks. It could be difficult to clear viral infections from an immunostealthy patch of tissue, and possible tumors resulting from engraftment of PSCs might be difficult to clear immunologically.

Ventricular arrhythmias have emerged as the major toxicity of cardiomyocyte cell therapy. Initial studies in small animals showed no arrhythmic complications (probably because their heart rates are too fast), but in large animals with human-like heart rates, arrhythmias were consistently observed (5, 12). Stereotypically, these arrhythmias arise a few days after transplantation, peak within a few weeks, and subside after 4 to 6 weeks. The arrhythmias were well tolerated in macaques (5) but were lethal in a subset of pigs (12). Electrophysiological studies indicate that these arrhythmias originate in graft regions from a source that behaves like an ectopic pacemaker. Understanding the mechanism of these arrhythmias and developing solutions are major areas of research. There is particular interest in the hypothesis that the immaturity of PSC-cardiomyocytes contributes to these arrhythmias, and that their maturation in situ caused arrhythmias to subside.

A successful therapy for heart regeneration also requires understanding the host side of the equation. PSC-derived cardiomyocytes engraft despite transplantation into injured myocardium that is ischemic with poor blood flow. Although vessels eventually grow in from the host tissue, normal perfusion is not restored. Achieving a robust arterial input will be key to restoring function, which may require cotransplanting other cell populations or tissue engineering approaches (13, 14). Most PSC-mediated cardiac cell therapy studies have been performed in the subacute window, equivalent to 2 to 4 weeks after myocardial infarction in humans. At this point, there has been insufficient time for a substantial fibrotic response. Fibrosis has multiple deleterious features, including mechanically stiffening the tissue and creating zones of electrical insulation that can cause arrhythmias. Extending this therapy to other clinical situations, such as chronic heart failure, will require additional approaches that address the preexisting fibrosis. Cell therapy may again provide an answer because CAR T cells targeted to cardiac fibroblasts reduced fibrosis (15).

Developing a human cardiomyocyte therapy for heart regeneration will push the limits of cell manufacturing. Each patient will likely require a dose of 1 billion to 10 billion cells. Given the widespread nature of ischemic heart disease, 105 to 106 patients a year are likely to need treatment, which translates to 1014 to 1016 cardiomyocytes per year. Growing cells at this scale will require introduction of next generation bioreactors, development of lower-cost media, construction of large-scale cryopreservation and banking systems, and establishment of a robust supply chain compatible with clinical-grade manufacturing practices.

Beyond PSC-cardiomyocytes, other promising approaches include reactivating cardiomyocyte division and reprogramming fibroblasts to form new cardiomyocytes. However, these approaches are at an earlier stage of development, and currently, PSC-derived cardiomyocyte therapy is the only approach that results in large and lasting new muscle grafts. The hurdles to this treatment are known, and likely addressable, thus multiple clinical trials are anticipated.

Acknowledgments: C.E.M. and W.R.M. are scientific founders of and equity holders in Sana Biotechnology. C.E.M. is an employee of Sana Biotechnology. W.R.M. is a consultant for Sana Biotechnology. C.E.M. and W.R.M. hold issued and pending patents in the field of stem cell and regenerative biology.

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Stem cells and the heartthe road ahead - Science Magazine

The first time Bill Cronin Googled his own cancer diagnosis in 2016, his heart sank. He had Szary syndrome, a rare and aggressive form of cutaneous T-cell lymphoma and staring back at him were countless articles predicting a negative prognosis.

However, after receiving a stem-cell transplant at Dana-Farber/Brigham and Womens Cancer Center, Cronin is returning to the life he enjoyed before cancer.

Im at a place I never thought Id get to, Cronin says.

In 2015, Cronin, then 60, started feeling incredibly itchy and developed an accompanying rash. He went to his dermatologist, who diagnosed him with eczema and told him to return in five months. The rash continued to grow, however, and at the five month mark, Cronins dermatologist encouraged him to undergo further testing at Dana-Farber.

A blood test revealed that Cronins T-cells a type ofwhite blood cells that make up part of the immune system had becomecancerous. In the case of Szary syndrome, lymphoma cells will circulatethrough the blood stream and deposit in different areas of the skin. This willgenerally lead to a full-body rash and intense itchiness.

Cronin would need a stem cell transplant to combat the disease, but before he could receive one, his care team had to get him into remission. Patients who do not achieve remission prior to transplant have a high chance of relapsing.

When they first told me everything, I was really scared, says Cronin. But I knew I was in one of the best places in the world to figure out and treat this rare disease.

Cronins pre-transplant care was spearheaded by oncologists David Fisher, MD, and Nicole LeBoeuf, MD, MPH, clinical director of Cutaneous Oncology at Dana-Farber, with his transplant conducted by Corey Cutler, MD, MPH, medical director of the Adult Stem Cell Transplantation Program at Dana-Farber. Initially, Cronins disease was incredibly resistant; for nearly three years, mainstay drugs including steroids, monoclonal antibodies, and enzyme blockers all failed to put his disease into remission.

Ultimately, it would take a new drug, mogamulizumab (a type of immunotherapy that directly kills T-cells involved with Sezary Syndrome) to get Cronins disease into remission.

In May 2019, Cronin was cleared to undergo an allogeneic transplant, a type of transplant that uses a donors stem cells, in this case, Cronins brother. Since his transplant Cronin has remained in remission.

We had to use all of our big guns to get him totransplant, but Im pleased with where we are now, says Cutler.

I know the situation can always change, but it was great tobe able to share some good news with my family and friends, adds Cronin.

Patients like Cronin serve as a reminder of how stem cell transplants have improved and continue to impact patient outcomes, Dana-Farber experts note. Initially offered to only an incredibly small patient population when first performed at Dana-Farber in the 1970s, research advancements have, and continue to, broaden who is eligible for a transplant. In 2019, Dana-Farber/Brigham and Womens Cancer Center (DF/BWCC) surpassed 10,000 total adult transplants.

This milestone indicates our success as a program and our volume has allowed us to do the research to help move the field forward rather impressively, says Joseph Antin, MD, chief emeritus of Adult Stem Cell Transplantation at DF/BWCC.

In 1996, Dana-Farber Cancer Institute and Brigham and Womens Hospital merged their then separate transplant centers. By pooling together physical and intellectual resources, the new combined program was able to more than double the number of transplants each hospital could perform individually.

We always felt collaboration was better than competition, explains Robert Soiffer, MD, vice chair of Medical Oncology for Hematological Malignancies and chief of the Division of Hematologic Malignancies, who oversaw the merger with Antin. Each side could learn from the other, and that helped to catapult us into the leadership position we have today.

The Stem Cell Transplantation Program is also bolstered by the Connell and OReilly Families Cell Manipulation Core Facility (CMCF), which was established in 1996. The state-of-the-art center, led by Jerome Ritz, MD, not only processes the stem cells for transplant; it also assists researchers in developing new cell-based therapies for patients.

Another key component to the programs success has been the creation of the Ted and Eileen Pasquarello Tissue Bank. The Pasquarello Tissue Bank receives, processes, banks, and distributes research samplesof blood, bone marrow, and other tissues. Through a database overseen by Vincent Ho, MD, the Institute is able to log, assess, and later review every patients disease, including all complications and mutations. This technology allows researchers to explore the genetic makeup of past donors and better understand why a transplant was or was not successful.

Were still learning from biological specimens we collected 20 years ago, and it will continue to impact care 20 years from now, Soiffer says.

Today, there is a continuous push to develop new and more precise therapies to complement and improve stem cell transplants. The hope is to bring new treatment options to patients like Cronin who are facing rare and difficult diseases.

Before his diagnosis, Bill, and Barbara Finney, his partner ofnearly 30 years, were avid English Country dancers. English Country dancingevolved from the court dances of Europe in the early 17th century, and Croninand Barbara have friends from all over the country who share their passion forit.

While Cronin isnt dancing just yet, as hes stillrecovering from his transplant, he says he couldnt have gotten through thiswithout his partner on the dance floor and in life.

Barbara has been amazing and has helped take care ofeverything I couldnt do, he adds. Ive been fortunate and privileged to notonly have her, but to have been able to come to Dana-Farber.

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Transplant for Szary Syndrome is Patient's First Step in Returning to the Dance Floor - Dana-Farber Cancer Institute

Last month, a letter dropped onto Robert Jones doormat containing just about the best possible news.

It revealed the person he had donated bone marrow to was doing very well, two years on from a life-saving blood stem cell transplant.

The Pontypridd hooker doesnt know much about the recipient, other than hes a 24-year-old young man from Ireland.

But with two years having passed, that person will now receive details of his donor and can get in touch with him and meet up if he so wishes.

Its a meeting Jones would love to see take place.

He has decided to talk about what he did and the happy outcome in order to encourage more people to join the donor list.

So how did it all come about?

I have given blood for about 10, 12 years now, he explained.

Then about four years ago, the Welsh Blood Service just asked me if I would mind going on the bone marrow donor list.

I lost my grandfather, Howard, to leukaemia six years ago. So as soon as they said it could benefit people who suffer with blood cancer, I couldn't say no, really.

I joined the register and they just took an extra sample of blood to test.

I didnt expect to hear anything, but within a year and a half, Welsh Blood contacted me to say they had a potential match. I was a bit shell-shocked.

I went down and had a discussion with them. I didnt know anything about who I was going to be donating to at that point.

I went for a medical, a full body MOT to make sure I was fit enough.

With that box ticked, it was then a question of deciding which procedure to go for.

They give you two options, he explained.

Either a stem cell transplant where you are hooked up to a machine for 12 hours or taking the bone marrow, which involves drilling into your hip bone.

I went for the drilling one.

In simple terms, the stem cell is quantity over quality, whereas the bone marrow is quality over quantity.

When I had my meetings with Welsh Blood to make my choice, they said it was a 22-year-old young boy from Ireland who had leukaemia.

At the time, my brother was 23, 24 and I just thought imagine that was my brother.

The only thing I could think of was imagine the shoe was on the other foot and it was one of my family members or friends suffering.

Plus the idea of being hooked up to a machine for 12 hours straight would have skulled me to death!

So I went for the bone marrow option. It was more likely to be helpful and useful.

That was in January 2018. When you hear exactly what the procedure involved, you have nothing but admiration for Jones.

They drill straight into your hip bones to the core and then they withdraw your whole bone marrow, he said.

There were six drill holes right in the bottom of my back. It depends on the individual, the amount of marrow they take.

If theres enough to take, they keep taking it really. The nurse said they took a hell of lot more from me than a normal person, possibly because I am so big!

I think it was 600 mill they had out of me.

The operation lasted about three hours in all.

I woke up from the anaesthetic about 1pm in the afternoon and I was in so much pain I said put me straight back under!

It was such a severe ache I just couldnt ignore it. So they put more morphine in and I went straight back to sleep.

Then I woke up about 6pm and my mother was there to pick me up.

She said I just looked horrendous, as white as a ghost.

But I went home that evening, so I was in and out of hospital in the day.

I couldnt sit down for a week. I had to lie flat. So I was more or less settee or bed bound.

Obviously I was in a lot of pain and I was off work for three or four months. They were really supportive.

I was still aching for up to a year, but not to the extent as when I woke up.

Jones, who works as an area manager for Wales & West Utilities gas distribution network, obviously had a break from rugby while he recovered - although not for too long.

He was with Cross Keys at the time, having joined them following a seven-year stint with his hometown club Treorchy, for whom he played more than 200 games.

One of the big questions I asked was whether it would prevent me playing rugby, but they said it would have no long-lasting effect, he said.

I was back training after about eight weeks and played my first game after around four months, towards the end of the season.

For about a year, every time I was having scrummaging sessions or a game, the bottom of my back was just aching.

I am a hooker, so I am right in the mix of it. The second rows were pushing right on the sore spot at the bottom of my spine.

"I'm over all that now and fortunately I am still able to play, but even if it had been the end of my rugby career, that's nothing to me really.

"I've still got my good health and I'm fortunate to be still here, with all my friends and family, and that young man wouldn't be, so I have no regrets at all and if I could do it again tomorrow, I would."

A year on from his procedure, Jones received notification the recipient had survived the transplant and last month there was an even more positive update.

The letter from Welsh Blood said the young man from Ireland was very well and had not suffered any major complications.

That makes it all worthwhile, said Jones.

Its very rewarding.

And it also raises the possibility of donor and recipient meeting up.

After two years, they get all my information, so they can contact me, he said.

If he wants to get in touch with me, I would love to hear from him, just to see how he is and meet him possibly. That would be phenomenal.

I am open to the idea of getting to know him, but obviously its totally down to the individual.

Now 29, Jones is in his second season with Pontypridd having switched to Sardis Road after two years with Cross Keys.

Im loving it there. They are a really great bunch of boys, he said.

Hes currently sidelined with a hamstring problem, but understandably such issues are pretty minor in the general scheme of things when you have been through the kind of experience he has.

Ask him whether he would do it all again if he had his time over, and he provides an emphatic answer.

100 per cent. I would do it again tomorrow, he said.

I have given that person at least two years extra.

The bone marrow is the last straw. If he hadnt had that, he probably wouldnt have been around today.

"So no regrets at all. You just give someone that little hope and I would definitely encourage people to think about going on the register.

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The selfless act of popular Welsh rugby player who risked his career to save the life of a stranger - Wales Online

Care plan or support can be defined as the method followed to provide physical and clinical support to an individual with health complications. For a proper care plan, it is essential to have conceptual clarity about the physiological status of the individual. Depending on the condition of the diseases, care planning also alters.

Without access to quality healthcare, people are subjected to various types of risks. From malnutrition to pregnancy, all can become quite dangerous without proper health and support. Intake of a proper diet and exercising regularly are some of the ways through which we can stay healthy.

How To Improvise Regular Health System:

1. The importance of visual observation

Visual observation is needed to notice on the patient in the slightest uneasiness of the attitude. Visual observation is equally important in eye care too. With visual observation, an expert ophthalmologist can know the problematic areas of your eyes. To be precise, visual observations should form an integral part of a healthcare practitioners core skills. Recording what was being observed can shed light on the progress made by the patients. Visual observation also helps to demonstrate areas of potential concerns.

Assessing the routine measures that provide information about body functioning

Some common illnesses associated with the eye

Age-Related Macular Degeneration

Reasons for taking Measures

To ensure that there is no harm to the retina.

2. BMI

The measurement of a persons Body Mass Index identifies the persons weight and height. BMI gives an indicator of body fat for most of the people that can go to health-related problems. BMI means Body Mass Index that is the ratio between weight and height.

3. Heart rate

Heartbeat means the speed of the heartbeat that is measured by the number of heart diastole and systole. The heart pumps during systematic gaps. Some activities can change the rates that are strenuous jobs, exercise, and tension. The usual rate of an adult can be 60 to 100 bpm. A lower rate can mean circulatory fitness.

4. Blood Pressure

It is vital for an adult blood pressure that is (120/80). It is the ideal blood pressure. A sphygmomanometer is to estimate blood pressure. The flow of blood through the blood vessel is measured in this way. Blood pressure depends on cholesterol in the blood as well.

Assessing the functioning of care planning and individuals:

Another example is the heart rate, which indicates the blood flow and ability of the heart to facilitate the blood flow throughout the body. However, during the stage of low blood circulation with a risk of myocardial infarction, angioplasty is recommended to increase the diameter of blood vessel coming out of the heart to improve the blood flow. On the other hand, if the expansions of vessels are more than the required level, it can lead to reduced blood pressure and declined blood flow to the body. Therefore it is essential while planning for care to know the blood pressure and blood flow rate, and accordingly, they make plans.

Precisely, there is a particular checklist for preparing a care plan involving the maintenance of a clinical summary of an individual. Keeping a record for unmet support practice and its impact on the patient is imperative. These practices for care plans can profoundly help in the formulation of effective care plans.

Comparing structural and functional alterations of the eye with advancing age:

With advancing age, one would encounter a variety of eye-related issues. The common age-related eye problems include glaucoma, presbyopia, age-related macular degeneration, and retinal problems. Thus, if you want to prevent your eye problems, never forget to visit a good eye care center like Eye7 Chaudhary Eye Centre, where experts are available to take care of you.

Aging is an inevitable phenomenon for all the cells in the body leading to alterations in connective tissues, nerve tissues, connective, and epithelial tissues. Cells become larger with age, less flexible, and lesser capabilities of cell division. Therefore, the possibility of producing new cells at the elderly age is a less likely incident except for the stem cells. Most of the cells at the old age stops functioning or acts abnormally. When a human body ages, it is generally observed that the skin becomes pale and the hair turns grey. In addition to that, the body function slows down.

Starting from childhood, connective tissues such as bone and blood vessels grow till old age and then become stiff. Usually, there are three main types of connective tissues. Further, the structure of cell membranes alters and becomes less active in procuring oxygen and energy from food. Body cells also lose their capability to expel carbon dioxide as well.

As the cells and tissues change, they exert their cumulative effect on the entire organ by changing their structure and functional abilities. At the age of 20 years, the heart muscle can pump out blood at a rate of 10 times higher than is needed for keeping the body alive, and this efficiency declines by 1% each year.

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The Physiological Principles in Health and Social Care One Must Know - Times of India

MEDIA CONTACT: JJ Scarbrough

WASHINGTON UNIVERSITY ST. LOUIS SCHOOL OF MEDICINE OPTHALMOLOGY PROVIDES VALUABLE FUNDING TO KIDS VISION FOR LIFE ST. LOUIS

ST. LOUIS (February 19th, 2020) Washington University St. Louis School of Medicine Ophthalmology recently provided funding to equip 1,000 students with prescription eyeglasses through Kids Vision for Life St. Louis (KVFL) mobile clinic program. Research indicates, upwards of 67% of children never see an eye doctor after the parent or guardian is notified of a vision impairment through an initial screeningdespite the school districts' continued efforts to follow-up. Barriers that prevent follow-up often include: 1) family economics, 2) lack of transportation, 3) loss of work to take a child for appointments, and 4) lack of awareness of the importance of being able to see well in order to read and learn well.

KVFL provides free vision services and eyeglasses for elementary students in low-income areas. Over 60,000 screenings are conducted annually at 175 schools in the St. Louis area.

I appreciate you coming to my school. I have been having a difficult time seeing in class. I cant wait to get my glasses! Thank you. Lily (Lift for Life Academy)

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Washington University St. Louis School Of Medicine Ophthalmology Provides Valuable Funding To Kids Vision For Life St. Louis - Suburban Journals

For Immediate Release: February 21, 2020

The U.S. Food and Drug Administration today authorized marketing of the first test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended as an aid in diagnosing FXS and is to be used along with the evaluation of a patients family history and clinical signs and symptoms of FXS. Additionally, this test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS, called the FMR1 gene.

This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome, said Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDAs Center for Devices and Radiological Health. Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.

According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.

Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.

In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or standalone diagnoses of FXS.

The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.

Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDAs 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.

The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome - FDA.gov

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

In 2004, Dr. Michael Ackerman got an unexpected phone call.

On the other end of the line was a medical examiner in Kentucky who had recently performed a befuddling autopsy on a 12-year-old Amish girl.

He was perplexed why this seemingly healthy Amish child died suddenly during play, said Ackerman, a genetic cardiologist at Mayo Clinic who studies why some young people die unexpectedly. And he says, I have DNA for you.

Ackerman, who also leads Mayos Windland Smith Rice Sudden Death Genomics Laboratory, pioneered a postmortem test to detect genetic causes behind sudden death. The medical examiner in Kentucky had heard about his work.

That phone call would ignite more than a decade of genetic sleuthing across multiple states to understand why a healthy Amish child had died without an obvious explanation. The mystery of her death and later, the deaths of more than a dozen other Amish children would vex researchers and clinicians for years, until Ackerman and his colleagues finally made a breakthrough in their Mayo lab.

Those findings were recently published in the JAMA Cardiology medical journal. Now, those same researchers are working to find a treatment.

Not long after the medical examiners call in 2004, Ackerman and his team were just beginning their research into the girls DNA when tragedy struck again. Four months after losing their daughter, the family lost her 10-year-old sister under similar circumstances suddenly, while she was outside playing.

Ackerman said his research team had a hunch the siblings deaths involved a gene called RYR2. When there's a single error on the gene, it causes an irregular heart rhythm that often reveals itself in the form of fainting spells while exercising. It can be fatal.

But that was more than 15 years ago, and medical research tools hadnt quite caught up to the teams needs.

Back then, it was painfully slow. It sort of was one gene at a time, Ackerman said.

After extensive testing of the girls' DNA, the Mayo researchers still had no answers.

We basically had a project that was stalled and would stay stalled until we would have evolution of technology, Ackerman said.

Over the next decade, 16 more Amish children died while exercising, without warning. The same family that lost their daughters in 2004 lost two more children under similar circumstances. Amish children in other states died, too.

While Mayos research languished, more than a thousand miles away, doctors at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., encountered a similarly tragic story.

In 2005, a young, apparently healthy Amish child was playing and died suddenly. The autopsy revealed no obvious cause. Several years later, the girls sister experienced cardiac arrest but survived and she is still living, 15 years later.

This started a trend, essentially, in their family, said Kristi Fitzgerald, a genetic counselor at Nemours and an author of the JAMA paper. Its not just a fluke chance, a terrible, tragic event. Now with two girls in one family, the presumption was that this probably was a genetic cause, something to do with a genetic arrhythmia.

But just as in Ackermans lab in Rochester, Minn., genetic testing at Nemours turned up nothing.

Over the years, Nemours staff collaborated with Mayo staff, and in the process learned that the sisters who had died in Kentucky were from the same extended family as the child who had died in Delaware.

Researchers also identified additional relatives in Iowa who have the same genetic defect. To date, no members of Amish communities in Minnesota appear to have the condition.

Clinicians at Mayo and elsewhere are fiercely protective of the families affected, and declined to identify them to maintain their privacy.

In Rochester, Ackerman and his staff continued to collect DNA samples from the children who died in this perplexing way, hoping someday to figure out the cause of their death.

They just needed the technology to catch up. In 2016, it started to.

Ackerman said new testing techniques revealed that the sudden deaths weren't caused by just one error on the RYR2 gene they were caused by 300,000 of them.

What's more, the risk of sudden death came only when the children inherited that faulty gene from both parents.

"We basically did genomic triangulation and figured that all of these sudden deaths and all of these different Amish communities were happening for the exact same reason: a double whammy, a double hit of this exact same duplication, Ackerman said.

Nemours pediatrician Matthew Demczko has made a career working with Amish children who live with an array of genetic abnormalities.

He said the genetic heart defect detected by the Mayo team is likely unique to the Amish community. Thats because researchers think people with the defect are all connected to a small number of people who established a particular Amish community from which the children affected were all descended. Those people are what Demczko calls "founder individuals."

Their genetic information has now become sort of the genetic thumbprint of the entire community, he said.

Demczko said Amish communities tend to be small and insular, and members of the community typically marry and have children with people who are also Amish.

That factor on top of the idea that from a cultural perspective, very few individuals come into the Amish community, there's really no introduction of new genetic material, he said.

Beating heart cells engineered from blood donated by two people living with a condition that has caused the sudden deaths of Amish children are shown on a microscope screen inside of the Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory.

Evan Frost | MPR News

Fitzgerald, Demczkos colleague, is on the front lines of screening members of Amish communities in their region for the defect. She said that Nemours positive reputation in nearby Amish communities helps in her work.

Word of mouth is important, she said. I think that's a great source of referral, to have a patient to say, We had a good experience. This went well.

Fitzgerald said her Amish patients ask the same questions about genetic testing as other families do: What will the test tell them? Why is the test important? What will they do with the information if they test positive?

And she said it's a misconception that Amish people shun medicine.

The families shes worked with, she said, have been open to testing and treatment.

"Parents want what's best for their child. It's about building a relationship, you know, with the family, she said. Most are not at all skeptical."

Fitzgerald said that some parents whose children have tested positive for the condition have opted to get an implantable defibrillator, which is the only available treatment.

But many Amish families dont carry health insurance, so that solution is not only invasive, but can be prohibitively expensive.

Back at Mayo, researcher Dave Tester is trying to better understand the genetic defect he helped discover. Now that theyve pinpointed the cause of the childrens sudden death, theyre trying to find a more affordable and accessible treatment.

"This is sort of phase 2 in this study, said Tester, who also authored the JAMA article.

To do that, the researchers turned to another novel approach: They engineered beating heart cells from blood samples donated by two people living with the condition.

He points to a cluster of heart cells undulating rhythmically under a microscope.

"These cells have the same exact genetic background that our patient does, he said. Here we can understand, at least from this patient's perspective what is the cell doing?"

Beating heart cells from blood samples donated by two people living with a condition that has caused the sudden death of Amish children.

Evan Frost | MPR News

In the coming months, Tester and his staff will perform a battery of tests on these cells, looking for clues that point them toward a better treatment.

But in the meantime, Mayo and Nemours continue to collaborate to understand just how common the condition is and how widespread. Their network has also extended to Iowa, where a genetic counselor is working with nearby Amish communities.

To ease that process, Mayo has made the test free for Amish families who may be affected.

Fitzgerald, the genetic counselor, is hopeful additional screening in Delaware and in other Amish communities will reveal more information about the condition.

And while she may not be able to offer her families a perfect solution today, at least they're starting to get some answers.

We don't want to give false hope, but I think it is important to tell families how far we come, she said. We tell people Hold on, stay tuned.

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Amish kids were dying mysteriously. Mayo scientists solved it. But can they treat it? - Minnesota Public Radio News

Any given morning,Megan Roche, MD, is probably out running -- but we're not talking about a standard 5K. Roche is the2016 USA Track and Field ultrarunner and sub-ultrarunner of the year, a five-time national ultrarunning champion, a North American Mountain Running Champion and six-time member of the U.S. world ultrarunning team.

When she's not scaling muddy mountains or competing in races up to 50 miles long, Roche is working on her PhD in epidemiology, after completing a medical degree at Stanford in 2018. Her research enables her to continue running, coaching andwriting about runningwith her husband, a fellow ultramarathon winner, all while delving into the science of athletic performance.

She slowed down long enough to talk with me about her love of running and science, and how these two passions shape her career path.

How did you become interested in running and taking on longer distances?

I always knew I loved running. I played field hockey in college and then I took a fifth year to run track. From there, it was just a natural progression. I love nature and time out on trails, so running longer distances just means covering more ground in beautiful places. Plus, I enjoy the physiology element of longer-distance running. I think there's a lot of different variables that go into the longer distances, like fueling, the mental mindset and metering out your effort.

Do you think about what's happening in your body while running longer races?

I do sometimes. But honestly, when it hurts, I try to turn that off and just have a completely blank brain. After the fact, it's fun to go through and think about the different cellular processes that are going on as your body is going through that pain and putting out power. Even though it's unpleasant, it's a really beautiful element of human physiology that we can push the body to its limits.

How do you balance a sport and a profession that are both so time-intensive?

I get almost all my training done in the early morning. I'm a morning person, which helps. When I run or exercise it actually makes me more time efficient -- I feel like I need that energy release. Getting in the training is a way to prime my brain for the rest of the day. I probably spend about 13 or 14 hours a week training, so in the grand scheme of things, these are just hours that make me more productive down the road.

Does your running impact your research and vice versa?

It definitely does. One of my research focuses is genetic predictors of sports injury in athletes, working withStuart Kim, PhD. Some of that research involves genetic consulting with athletes and oftentimes training questions come up.

Another study I'm working on is the Healthy Runner Project withMichael Fredericson, MD;Emily Kraus, MD, andKristin Sainani, MD, PhD. There, we're looking at stress fracture rates in Stanford track and field athletes, and looking at preventing bone stress injuries, primarily through a nutrition intervention and making sure that athletes have sufficient energy availability. Being able to connect with the research participants as athletes is helpful. I also apply Healthy Runner research in my work as a running coach and in my writing.

Have you tested your own genetics?

I have. Fortunately, they're actually pretty good, in terms of injury markers. I did rupture my high hamstring tendons, recently, so I will be searching for a hamstring marker down the road.

What are you most proud of in your life thus far?

For me, the decision not to go to residency was one that was very difficult. Heading into medical school, I was interested in being an orthopedic surgeon, but I realized that it just wasn't conducive to all the other things I have going on in life.

I'm proud of being able to step off that path, being okay with taking a "career swerve" and ultimately finding what I love. Every morning I wake up, and I'm so excited to do the science and the running that I do with inspiring mentors and people that I care about. I'm proud of the decisions that got me to that point and grateful for the balance that I've found.

Photo by Daphne Sashin

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She's an ultrarunning champion, studying the genetics of sports injury - Scope

Waldron has already lived considerably longer she turns 19 on March 1. She credits lonafarnib, an experimental medication shes taken since 2007 in clinical trials at Boston Childrens Hospital. A California drug firm plans to complete its application for approval by March 31, with the hope of a favorable ruling from the Food and Drug Administration by years end. It would be the first approved drug for the ultra-rare disease.

Its been proven that it helps in extending life, Waldron, a Deerfield native, said recently over hot chocolate at Caffe Nero near Emerson. Im almost 19. The life span is technically 14. A winsome smile brightened her face. Looks like its doing a good job.

Since 2007, Childrens Hospital has run four clinical trial of lonafarnib. Waldron has participated in all four, and researchers say the results are encouraging.

In perhaps the most compelling finding, a study published by the Journal of the American Medical Association in 2018 reported that children with progeria who took lonafarnib capsules twice a day had a dramatically lower mortality rate than those who didnt.

After slightly more than two years, one in 27 children who took lonafarnib, or 3.7 percent, had died compared with nine in 27 who didnt get it, or 33 percent, according to the article by a team of researchers from the Progeria Research Foundation, Brown University, and Childrens Hospital. Lonafarnib appeared to slow the progression of cardiovascular disease, although it had little or no effect on other symptoms, including stiff joints, stunted growth, wrinkled skin, and loss of body fat and hair.

The data looks fantastic, said Dr. Leslie Gordon, lead author of the JAMA study and medical director and cofounder of the Progeria Research Foundation, the Peabody-based nonprofit that funded the trials. Youve got a fatal childhood disease with no treatment, and youve shown a survival benefit.

For Gordon, a professor of pediatric medicine at Browns medical school who practices at Boston Childrens Hospital and Hasbro Childrens Hospital in Providence, the quest to treat progeria is profoundly personal.

Her son, Sam Berns, a Foxborough High School junior, died of progeria in 2014 at age 17. Like Waldron, he began taking lonafarnib in 2007 in the clinical trials. An avid sports fan who played the snare drum in the Foxborough High School marching band, he was the subject of the 2013 HBO documentary Life According to Sam.

Gordon had never heard of progeria when Sam, her only child, was diagnosed with it at 22 months. She has since become an authority. In 2003, she was on the research team led by Dr. Francis S. Collins, director of the National Institutes of Health, that discovered the defective gene that causes the disease. She cofounded the progeria foundation with her husband and sister.

The genetic mutation that causes progeria results in an overabundance of the protein progerin. A buildup of progerin occurs within a cell in normal aging, but the rate of accumulation is dramatically accelerated in children with the disease. Progeria has no effect on a childs intellect, as anyone who meets Waldron who took an Advanced Placement class in European history in high school and rhapsodizes about Michelangelo can tell in an instant.

Lonafarnib was originally developed by the pharmaceutical giant Merck as a potential treatment for cancer. But researchers found that it can reverse an abnormality in cells of laboratory mice with progeria. Merck has licensed it to Eiger BioPharmaceuticals, a small drug maker in Palo Alto, Calif. David Cory, chief executive of Eiger, says the company has hired a chief commercial officer and a vice president of medical affair in anticipation of FDA approval.

Researchers are working on other potential treatments, including one that targets the genetic root of the disease. David Liu, a chemistry professor affiliated with the Broad Institute, Harvard University, and the Howard Hughes Medical Institute, recently announced that he and a team of scientists had used a new form of genome editing to correct the DNA mutation that caused the disorder in mice, extending their lives.

Waldron, who serves as an ambassador for the progeria foundation, said she was diagnosed with the disease when she was about 2. Her mother, a housekeeper at an assisted living facility, and her father, a solar energy contractor, were worried because she wasnt growing or gaining weight, and her hair was falling out.

Waldron realized she had progeria as an adolescent when she went on the foundations website and saw pictures of kids who looked like her, she said.

Obviously, I knew that I was different before that, she said. But it wasnt an awareness I-have-progeria thing until at a certain point.

The disease has hardly stopped her. She ran for the cross-country and track teams at the public Frontier Regional High School in Deerfield. She played violin in the middle school orchestra and cello in the high school orchestra.

She has met about a dozen other children with progeria from around the country at family weekends at the nonprofit Hole in the Wall Gang Camp in Connecticut for seriously ill children and their families.

When she started considering colleges, Waldron said, she had no interest in going to school in Boston. But she fell in love with the city on a visit to Emerson.

You can walk down the street or hop on a train and go anywhere, she said, citing the North End as one of her favorites places.

I have great friends," she added. "I always have.

Emerson has made several accommodations for her. For example, the college provides a stool for her to rest her feet on when she sits at a desk in her four classes. The handle on her wardrobe in her dorm room was lowered so she could reach it more easily.

Waldron says she generally feels fine despite problems with her joints. She has dislocated her right shoulder four times doing ordinary tasks, such as reaching for a light switch.

None of this has dimmed her spirit for adventure.

Meghan has a very strong personality. Shes driven, her father, Bill Waldron, said in a video posted last year on the progeria foundations Facebook page. I dont think she pays attention to the fact that she has progeria.

Indeed, after graduating from high school in June, she traveled in Europe alone for a month. The initial attraction was seeing Anne-Marie, a singer and occasional Ed Sheeran collaborator, perform in London. But Waldron decided she also wanted to experience Renaissance art. She visited Milan, Florence, Rome, Paris, and Dublin, staying in youth hostels along the way.

Waldrons parents were nervous, she said. She was, too, but only briefly.

There was a point of about five minutes when my parents said goodbye and I was getting on the plane where I started freaking out, she said, laughing. But then I was like, Oh, well. And then I was fine.

Jonathan Saltzman can be reached at jonathan.saltzman@globe.com

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Emerson student with one of the worlds rarest diseases is heartened that the first drug to treat it could be approved soon - The Boston Globe

Lecturer/Senior Lecturer in Genetic/Epigenetic Epidemiology

Job number ACAD104465Division/School Bristol Medical SchoolContract type Fixed Term ContractWorking pattern Part timeSalary 44,045-59,135 pro rata per annumClosing date for applications 01-Mar-2020

This is an excellent opportunity for a talented researcher at the early part of their independent career who has a track record of high quality applied/methodological research. You will join the Bristol Medical School, in one of the UKs leading centres for research in population health sciences. You will develop your programme of genetic or epigenetic epidemiology research in collaboration with colleagues within the School, and will work with multidisciplinary research teams within the cross-Faculty MRC Integrative Epidemiology Unit (headed by George Davey Smith). You will also contribute to teaching and administration for the Schools undergraduate and postgraduate programmes. Specifically, you will contribute to the current intercalated degree (iBSc) in Genomic Medicine, established in 2016, to prepare future doctors for the genomics revolution in healthcare.

The successful applicant will have a PhD in a relevant quantitative topic, a strong interest in genome-wide and genome sequence data within population-based studies and epidemiological studies of causation, and a track record of research published in high impact journals. You will be able to demonstrate your enthusiasm for making an effective contribution to the teaching and organisation of our undergraduate and postgraduate teaching programmes and to supervising postgraduate students. In addition, you will be able to demonstrate your abilities in research administration, and in the successful supervision of junior staff.

For informal queries please contact: Kate Tilling, kate.tilling@bristol.ac.uk

We welcome applications from all members of our community and are particularly encouraging those from diverse groups, such as members of the LGBT+ and BAME communities, to join us.

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Lecturer/Senior Lecturer in Genetic/Epigenetic Epidemiology job with UNIVERSITY OF BRISTOL | 197245 - Times Higher Education (THE)

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers, and my maternal grandfather may have had vascular dementia. (In his generation, it was called senility.)

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago? Now comes my turn with dementia, I think.

Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they, too, might become demented.

Judith Graham (left) with her sister, Deborah.(Courtesy of Judith Graham)

The lack of a cure or effective treatments only adds to the anxiety. Just this week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Florida. Shes a retired registered nurse who teaches yoga to seniors at community centers and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family. But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia early before age 65 are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80. I try to eat very healthy. I exercise. I have an advance directive, and Ive discussed what I want [in the way of care] with my son, she said.

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Lately, Ive been thinking I should probably get a test for APOE4 [a gene variant that can raise the risk of developing Alzheimers], although Im not really sure if it would help, Kline added. Maybe it would add some intensity to my planning for the future.

I spoke to half a dozen experts for this column. None was in favor of genetic testing, except in unusual circumstances.

Having the APOE4 allele [gene variant] does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Mark Mapstone, a professor of neurology at the University of California-Irvine. And conversely, plenty of people with the allele never develop Alzheimers.

Tamar Gefen, an assistant professor of psychiatry and behavioral sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counselor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected, and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area. Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84 and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a health care proxy and a living will and long-term care insurance. Ive assigned powers of attorney, and Ive saved my money, she said. Eating a healthy diet, getting exercise, remaining socially engaged I already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a test sit around and worry? Larsen said.

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological exam. Among the domains examined over three to four hours: memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation, perception and more.

Brain scans are another diagnostic tool. CT and MRI scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET scans (not covered by Medicare) can demonstrate the buildup of amyloid proteins a marker of Alzheimers. Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Frederick Schmitt, a neurology professor at the University of Kentucky. Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super holds nieces Kylie and Lian Ascher on the couch beside Noras father, Bill Super, and her aunt Trudy Super.(Courtesy of Nora Super)

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several years falling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Gefen of Northwestern said she tells patients that if [cognitive testing] is something thats going to stress you out, then dont do it.

Nancy Smith celebrates her 81st birthday with sons Nigel (right) and Tim Smith.(Courtesy of Nigel Smith)

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, Nancy was still living in the familys large home in Brookline, Massachusetts, which she refused to leave.

Eventually, after his mother ended up in the hospital, Smith was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, Nigel said. She smiles but she doesnt recognize me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Smith said he was too afraid of Alzheimers to contemplate this question. Now hes determined to know as much as possible, not so much because Im curious but so I can help prepare myself and my family. I see the burden of what Im doing for my mother, and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minnesota, feels a similar need for a plan. Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago. Today, she resides in assisted living and doesnt recognize most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anesthesia and an addiction to prescription painkillers. I dont share these, and that may work in my favor, she said.

Still, Hall is concerned. I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said. I dont want what happened to my mother to happen to me. Probably, Hall speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then I wouldnt take him up on the offer. If and when my time with dementia comes, Ill have to deal with it. Until then, Id rather not know.

Judith Graham: khn.navigatingaging@gmail.com,@judith_graham

See more here:
Stalked by The Fear That Dementia Is Stalking You - Kaiser Health News