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Archive for January, 2020

LifeGaines Medical and Aesthetics in Boca Raton Offers Ketamine Treatment for People With Anxiety and Depression – American Press

BOCA RATON, Fla. - January 28, 2020 - ( Newswire.com )

Patients who go to LifeGaines Medical and Aesthetics need solutions to their problems. Using cutting edge technology, the team of physicians there offers innovative therapies that provide relief for symptoms and a better quality of life. Behind their mission to help patients live their best life is a full-service clinic that offers a variety of regenerative medicine options.

For those struggling with treatment-resistant depression and debilitating anxiety, regenerative medicine is often unheard of. Typically stuck in a never-ending cycle, their ability to feel better and have an improved quality of life seems non-existent. By offering ketamine treatment for people struggling with anxiety and depression, LifeGaines Medical and Aesthetics hopes to provide acute and lasting relief from anxiety and intrusive thoughts.

To get relief from anxiety and depression at LifeGaines Medical and Aesthetics call 561-931-2430. Go to http://www.ketaminebocaraton.com for more information.

Ketamine treatment for depression and anxiety in Boca Raton.

Ketamine's dissociative properties have now proven to be useful for treating patients with depression. Given appropriately and under medical supervision, ketamine allows for dissociation from the intrusive thoughtsthat come with many mental disorders including treatment-resistant depression. Studies have shown that ketamine works for a number of patients with both acute and long term relief ( https://www.nimh.nih.gov/about/strategic-planning-reports/highlights/highlight-ketamine-a-new-and-faster-path-to-treating-depression.shtml ). Patients report that one dose of ketamine can change their thought patterns. Most patients say the relief lasts for a few days and some patients said that the relief from their symptoms lasted 2 weeks or more.

At LifeGaines Medical and Aesthetics, the ketamine is administered by a doctor who has worked with it for years. Prior to FDA approval for certain mental illnesses, ketamine was used in anesthesia. Initially, Dr. Richard Gaines, owner of LifeGaines Medical and Aesthetics, specialized in anesthesia during his time at Harvard. Dr. Richard Gaines proudly offers ketamine treatment at his age management practice in Boca Raton. LifeGaines Medical and Aesthetics offers a wellbeing program that allows patients to receive ketamine treatment for their symptoms and Rapid Resolution Therapy sessions with Dr. Jon Connelly.

Schedule ketamine treatment in Boca Raton at LifeGaines Medical and Aesthetics by calling 561-931-2430.

LifeGaines Medical and Aesthetics is a medical practice dedicated to helping others obtain a better quality of life. Located at 3785 N Federal Highway in Boca Raton, they offer ketamine treatment for depression and anxiety as well as many other hormone and age management therapies.

Press Release Service by Newswire.com

Original Source: LifeGaines Medical and Aesthetics in Boca Raton Offers Ketamine Treatment for People With Anxiety and Depression

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LifeGaines Medical and Aesthetics in Boca Raton Offers Ketamine Treatment for People With Anxiety and Depression - American Press

Lilly plans donation of 200000 insulin KwikPens over next three years to support lower-income communities – KPCnews.com

INDIANAPOLIS, Jan. 28, 2020 /PRNewswire/ -- Starting this month, Eli Lilly and Company (NYSE: LLY) will donate at least 200,000 KwikPensto three relief organizations Americares, Direct Relief and Dispensary of Hope to stock insulin at nearly 200 U.S. free clinics through 2022. These donations will directly support lower-income people living with diabetes who qualify for free clinic services.

Separately, Lilly is providing $2 million to fund grants that relief agencies will distribute to a wide range of eligible free clinics. The grants will fund programs intended to help people with diabetes understand and access resources that can help them obtain medicine and supplies, medical care, insurance coverage and more.

The insulin donations include KwikPens of Humalog (insulin lispro injection 100 units/mL), Humalog Mix75/25 (insulin lispro protamine and insulin lispro injectable suspension), and Basaglar(insulin glargine injection 100 units/mL).Shipments to relief agencies have already started, giving lower-income people another option for accessing insulin.

"Dispensary of Hope is excited to expand the ongoing effort with Lilly's insulin donation program," said Chris Palombo, Dispensary of Hope CEO. "Insulin saves lives, and the addition of donated Humalog and Basaglar KwikPens is important for the nation's uninsured, low-income community."

In 2018, Lilly announced plans to donate insulin vials to stock approximately 150 U.S. free clinics. Since then, Lilly has donated 120,000 vials that have been used by people who qualify for free clinic services. Lilly is now sending KwikPens to the relief agencies for distribution to nearly 200 free clinics.

"This donation of KwikPens will help many people across the U.S. get the treatment they need," said Mike Mason, president, Lilly Diabetes. "With the help of the relief agencies, Lilly insulin will now be available in many free clinics that are equipped to properly store it. These clinics help people find comprehensive care such as medicine, devices, and physician support, and are very important to people who live with diabetes and use these services. We will continue to evaluate the needs of these communities and enhance our insulin donations as necessary.

"Lilly is committed to offering the broadest suite of solutions for people who need help affording their insulin," Mason continued. "But real change to our reimbursement system is needed. Insurance coverage should ensure no one with diabetes is forced to ration or skip doses for financial reasons."

These donations are part of a broader suite of solutions that Lilly is providing to people who need help affording their insulin. These options include lower-priced versions of branded insulins, out-of-pocket price caps at pharmacies for people with commercial insurance plans and help for people with immediate needs. Anyone who uses a Lilly insulin can call the Lilly Diabetes Solution Center at (833) 808-1234 (9 a.m. to 8 p.m. EST Monday through Friday) to see whether there is an option that reduces their out-of-pocket costs, including information about how to receive free insulin through a free clinic if they meet income requirements.

More information about the grants that relief agencies will receive can be found on our blog.

Important Safety Information for Basaglar, Humalog (Humalog U-100 and Humalog U-200), Insulin Lispro Injection, Humalog Mix75/25, and Humalog Mix50/50

ContraindicationsBasaglar, Humalog (Humalog U-100 and Humalog U-200), Insulin Lispro Injection, Humalog Mix50/50, and Humalog Mix75/25 are contraindicated during episodes of hypoglycemia and in patients with hypersensitivity to insulin glargine, insulin lispro, or any of their excipients.

Warnings and Precautions Never share a prefilled pen, cartridge, reusable pen compatible with Lilly 3 mL cartridges, or syringe between patients, even if the needle is changed.Patients using vials must never share needles or syringes with another person. Sharing poses a risk for transmission of blood-borne pathogens.

Changes in insulin strength, manufacturer, type, injection site, or method of administration may affect glycemic control and predispose to hypoglycemia or hyperglycemia. Any changes in insulin regimen should be made cautiously and only under close medical supervision, and the frequency of blood glucose monitoring should be increased. Due to reports of hypoglycemia and hyperglycemia, advise patients who repeatedly inject into areas of lipodystrophy or localized cutaneous amyloidosis to change the injection site to the unaffected areas and to closely monitor blood glucose. For patients with type 2 diabetes, dosage adjustments of concomitant anti-diabetic products may be needed.

Hypoglycemia is the most common adverse reaction associated with insulins, including Basaglar, Humalog, Insulin Lispro Injection, Humalog Mix75/25, and Humalog Mix50/50.Severe hypoglycemia can cause seizures, may be life threatening, or cause death.

Accidental mix-ups between insulin glargine (100 units/mL), basal insulin products, Humalog Mix75/25, Humalog Mix50/50, and other insulins, particularly rapid-acting insulins, have been reported.To avoid medication errors between insulins, instruct patients to always check the insulin label before each injection to confirm that the correct insulin is injected, including the correct insulin brand and concentration.

Do not transfer concentrated insulins (Humalog U-200) from the KwikPen to any syringe as overdosage and severe hypoglycemia can occur.

Severe, life-threatening, generalized allergy, including anaphylaxis, can occur with insulin products,including Basaglar, Humalog, Insulin Lispro Injection, Humalog Mix75/25, and Humalog Mix50/50. If hypersensitivity reactions occur, discontinue use; treat per standard of care and monitor until symptoms and signs resolve.

All insulin products, including Basaglar, Humalog, Insulin Lispro Injection, Humalog Mix75/25, and Humalog Mix50/50, cause a shift in potassium from the extracellular to intracellular space, possibly leading to hypokalemia. Untreated hypokalemia may cause respiratory paralysis, ventricular arrhythmia, and death. Monitor potassium levels in patients at risk for hypokalemia if indicated.

Thiazolidinediones (TZDs), which are peroxisome proliferator-activated receptor (PPAR)-gamma agonists, can cause dose-related fluid retention, particularly when used in combination with insulin.Fluid retention may lead to or exacerbate heart failure. Patients treated with insulin, including Basaglar, Humalog, Insulin Lispro Injection, Humalog Mix75/25, or Humalog Mix50/50, and a PPAR-gamma agonist should be observed for signs and symptoms of heart failure. If heart failure develops, dosage reduction or discontinuation of TZD must be considered.

Malfunction of an insulin pump device, infusion set, or insulin degradation can rapidly lead to hyperglycemia and ketoacidosis.Patients using Humalog U-100 or Insulin Lispro Injection in subcutaneous insulin infusion pumps must be trained to administer insulin by injection and have alternate insulin therapy available in case of pump failure.

Adverse ReactionsAdverse reactions commonly associated with insulin glargine products, Humalog, Insulin Lispro Injection, Humalog Mix75/25, and Humalog Mix50/50 are hypoglycemia, allergic reactions, injection site reactions, lipodystrophy, pruritus, and rash.

Other adverse reactions commonly associated with insulin glargine products, Humalog Mix75/25, and Humalog Mix50/50 are weight gain and edema.

Drug InteractionsCertain drugs may affect glucose metabolism, requiring insulin dose adjustment and close monitoring of blood glucose. The signs and symptoms of hypoglycemia may be blunted when beta-blockers, clonidine, guanethidine, and reserpine are co-administered with Basaglar, Humalog, Insulin Lispro Injection, Humalog Mix75/25, or Humalog Mix50/50.

Click to accessBasaglar Full Prescribing Information, Humalog Full Prescribing Information, Insulin Lispro Injection Full Prescribing Information, Humalog Mix75/25 Full Prescribing Information and Humalog Mix50/50 Full Prescribing Information.

See Instructions for Use provided with pen/vial/syringe.

BV HI BOI SP HCP ISI NOV2019

About DiabetesApproximately 30 million Americans1 and an estimated 463 million adults worldwide have diabetes.2 Type 2 diabetes is the most common type internationally, accounting for an estimated 90 to 95 percent of all diabetes cases in the United States alone.1 Diabetes is a chronic disease that occurs when the body does not properly produce or use the hormone insulin.

About Lilly DiabetesLilly has been a global leader in diabetes care since 1923, when we introduced the world's first commercial insulin. Today we are building upon this heritage by working to meet the diverse needs of people with diabetes and those who care for them. Through research, collaboration and quality manufacturing we strive to make life better for people affected by diabetes. We offer a wide range of therapies and a continued determination to provide real solutionsfrom medicines and technologies to support programs and more. For the latest updates, visit lillydiabetes.com or follow us on Twitter: @LillyDiabetes and Facebook: LillyDiabetesUS.

About Eli Lilly and CompanyLilly is a global healthcare leader that unites caring with discovery to create medicines that make life better for people around the world. We were founded more than a century ago by a man committed to creating high-quality medicines that meet real needs, and today we remain true to that mission in all our work. Across the globe, Lilly employees work to discover and bring life-changing medicines to those who need them, improve the understanding and management of disease, and give back to communities through philanthropy and volunteerism. To learn more about Lilly, please visit us at lilly.com and lilly.com/newsroom. P-LLY

This press release contains forward-looking statements (as that term is defined in the Private Securities Litigation Reform Act of 1995) about Humalog (insulin lispro injection 100 units/mL), Basaglar (insulin glargine injection 100 units/mL), and Humalog Mix75/25 (insulin lispro protamin and insulin lispro injectable suspension) as a treatment for patients with diabetes and reflects Lilly's current belief. For further discussion of these and other risks and uncertainties, see Lilly's most recent Form 10-K and Form 10-Q filings with the United States Securities and Exchange Commission. Except as required by law, Lilly undertakes no duty to update forward-looking statements to reflect events after the date of this release.

PP-DB-US-0697 1/2020Lilly USA, LLC 2020. All rights reserved.

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Lilly plans donation of 200000 insulin KwikPens over next three years to support lower-income communities - KPCnews.com

Key population-led organizations delivering health services in Bangkok – UNAIDS

Boy Somjai and Jam Chainukul (not their real names) are a young same-sex couple from Bangkok, Thailand. At the start of their relationship, they decided to take HIV tests for the first time. Looking for information online, their friends suggested the Rainbow Sky Association of Thailand (RSAT), a community-based HIV clinic located off a busy street in Bangkok.

RSAT, with four clinics and 10 drop-in centres in different cities across Thailand, serves as a one-stop service where gay men and other men who have sex with men and transgender people can access HIV prevention services and take part in HIV-related information sessions, with flexible service hours suitable for the lifestyles of many people from key populations.

Danai Linjongrat, the Executive Director of RSAT, said, Access to HIV services for key populations is among the biggest challenges to the HIV response in the country. It is extremely important that key populations can access HIV prevention and treatment services without fear of discrimination.

Mr Boy and Mr Jam, who now return to RSAT every three months for regular check-ups, said, When we first visited the clinic, we were really nervous, as we were looking for a place that respects our confidentiality. Here we found more than an HIV clinicwe found a place we can trust, like a family. The health staff made us feel comfortable to share our story; they did not judge us and they understood our needs with an open mind.

The success of RSAT is credited in part to its health workers being members of the populations they serve. RSAT has adopted the countrys key population-led health services model, in which people from key populations identify and meet the HIV and other health-related needs of their peers. We understand the needs of our clients, what they want, where they live and how they feel, because our staff members are people from the communities, says Mr Linjongrat.

Community health workers provide needs-based and client-centred services, including pre-exposure prophylaxis (PrEP), legal consultations, harm reduction, screening for sexually transmitted infections, counselling and hormone level check-ups for transgender people. Depending on the outcome of a persons HIV test, they are offered a referral for antiretroviral therapy or an in-depth discussion about taking PrEP, all in a non-judgemental and supportive atmosphere.

RSAT is one of seven community-based organizations in Thailand that provide PrEP services free of charge through lay providers under the Princess PrEP Project. Currently, 1200 people are accessing PrEP through RSAT clinics and drop-in centres. The Thai Red Cross AIDS Research Centre, with the support of the United States Presidents Emergency Plan for AIDS Relief through the LINKAGES Thailand project, implements continuous capacity-building to ensure that community health workers can provide HIV services in accordance with national standards.

RSAT uses different ways to generate demand for and promote its programmes and to carry out outreach work. Phubet Panpet, Deputy Director at RSAT, said, Depending on our target audience, we go to different places, such as saunas, entertainment complexes, schools and universities, to raise awareness about HIV prevention and encourage people to get tested for HIV.

Kunpawee Isalam, a staff member of the outreach team in Bangkok, is a transgender person who understands the stigma and discrimination faced by the transgender community. We plan outreach activities that we know transgender people will be interested in, with the aim of increasing their self-confidence. For many, it is so hard to feel they can get support, and they fear discrimination. RSAT provides a safe space and HIV prevention options, she said.

RSAT uses social networking sites to reach out to young gay men and other men who have sex with men. Staff members register as users and create profiles on dating applications to share HIV-related information. At the beginning of the conversation, the outreach worker explains about the clinic and engages people in a conversation related to HIV prevention, said Mongkol Jaidee, a field officer. I choose the location, see who is connected, and send them personal messages to introduce the services provided by the clinic. I normally receive positive feedback, and it is common for people to come back later with questions and visit us in the following days.

Mr Linjongrat concluded, We differ from other services by caring for people by looking into what they need and what we can do to help them. Community-led services are a proven strategy and an essential feature of the HIV response in Thailand.

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Key population-led organizations delivering health services in Bangkok - UNAIDS

Some States Work to Protect Choice, Others to Take It Away – The Humanist

On Friday Donald Trump became the first sitting president to speak in person at the March for Life, the nations largest anti-abortion rally. Addressing a supportive crowd, the president listed a number of conservative achievements from his first termexpanding the global gag rule, preserving faith-based adoption, appointing 187 conservative-friendly federal judges, and touting his appointment of two Supreme Court justices, Neil Gorsuch and Brett Kavanaugh.

Unborn children have never had a stronger defender in the White House, Trump told the marchers to much applause.

As Trump revealed, reproductive rights and sexual health care have been under attack the past several years. 2019 in particular was a hard year for abortion rights on the state level. Bolstered by the Trump administrations anti-abortion measures, state lawmakers are making preparations in case Roe v. Wade is overturned and the responsibility to regulate abortion care falls to the states. Twenty states already have laws prepared to restrict or abolish abortion, and theyre not slowing down. Were only four weeks into 2020 and already were seeing a surge of regulations making their way through state legislatures around the country. Here are a few:

Kansas

Last week at the Kansas state capitol, lawmakers heard testimony for a constitutional amendment that would overturn a 2019 ruling by the Kansas Supreme Court that declared abortion access a right. If passed, this amendment would revoke the state constitutional right to abortion and allow lawmakers to pass additional restrictions. Republican officials are rushing to get this amendment passed because there are currently several cases dealing with abortion in the Kansas court system. The amendment requires a two-thirds majority in both chambers to be passed before it ends up on the ballot for Kansas voters.

Tennessee

The Tennessee Senate Judiciary Committee is expected to vote this month on a bill that would ban abortion after six weeks or once the pregnancy hormone HCG has been detected. The hormone can be detected in blood tests as early as ten days from conception.

California

In 2014 California passed a law that requires all insurance plans to cover abortion. Last week, on the same day as the March for Life, the Trump administration threatened to withhold federal funds from the state, arguing that the insurance requirement forces people to pay for others abortions and discriminates against health plans that dont cover basic reproductive care. Five other states also require abortion coverage in insurance plans.

Texas

Earlier this month, several towns in Texas voted to become sanctuary cities for the unborn. This declaration would make abortion illegal in the cities if the Supreme Court overturns Roe v. Wade. It also allows family members of people who have abortions to sue providers for emotional distress. This has become a growing trend in small Texas cities, with many adopting the ordinance last year.

Iowa

Last week an Iowa Senate subcommittee cleared a constitutional amendment that would add language to the state constitution stating that people have no right to an abortion. The proposed language reads: the Constitution of the State of Iowa does not secure or protect the right to abortion or require the funding of abortion. A majority vote at the ballot box will be needed for this amendment to pass.

Michigan

Michigan is gearing up to release several ballot initiatives that would restrict abortion access throughout the state. One would restrict abortions after six weeks, and the other would ban dilation and evacuation abortion, a common second-trimester procedure. These measures will appear on the ballot on November 3, 2020.

Georgia

In better news, earlier this month lawmakers in Georgia proposed legislation that would allow people to bypass the requirements of its 2019 abortion ban. A federal judge blocked the law, but the Womens Right to Know Act would require those seeking abortion to certify that they read anti-abortion materials, viewed the fetal image, and heard the fetal heartbeat before receiving an abortion. This new bill would make it easier to get an abortion by not requiring people to undergo that process.

Mississippi

In another promising development, just a few weeks ago a federal appeals court denied Mississippis request to reconsider a ruling that struck down the states fifteen-week abortion ban. In the December ruling the court said, States may regulate abortion procedures prior to viability so long as they do not impose an undue burden on the womans right, but they may not ban abortions.

US Supreme Court

The small victories in Georgia and Mississippi could be threatened depending upon the result of an upcoming Supreme Court case due to be argued in March. The high court will hear a case regarding a law in Louisiana that requires doctors to have admitting privileges at a hospital within thirty miles of the clinic where an abortion is performed. The concern is that it would leave Louisiana with only one doctor authorized to perform abortions. This law is similar to a Texas law that the court struck down in 2016, but this will be the first abortion case before the Supreme Court since Kavanaugh and Gorsuch were appointed by Trump, creating a conservative 5-4 majority. This case is being watched closely as it could be a chance for the court to consider abortion rights more broadly.

Link:
Some States Work to Protect Choice, Others to Take It Away - The Humanist

The Importance of A Routine Checkup – Curetoday.com

At 47, I was a perfectly healthy girl, I exercised daily, and had always been compliant to have my annual checkups, which included a routine mammogram and breast ultrasound. My annual visit began with the standard mammogram. My preliminary results showed all clear and I was moved onto the ultrasound room as part of my normal process for me due to breast density.

I couldn't have been more stunned when the radiologist told me the ultrasound showed an area of concern on my left breast and her recommendation would be a biopsy. My life changed forever, August 11, 2017 at 11:45am, as I became "1 in 8 Women " when I got the devastating phone call from my physician that my biopsy and imaging results showed invasive breast cancer with 3 tumors one dangerously close to my chest wall. I needed to be seen by an Oncologist Surgeon ASAP.

The overwhelming fear and shock immediately set in that I had cancer and didn't even know it. Everything in my life came to a screeching halt as I had a new reality "Cancer didn't Care". The day of my breast cancer diagnosis I had undergone testing of the BRCA Gene along with 28 other gene cancer tests. All came back negative along with my routine lab work. My results were normal. After much discussion with what I like to call my dream team of doctors, the best chance of beating my cancer was to undergo a seven-hour life-saving operation by having a bilateral mastectomy and placement of tissue expanders.

The expanders were used to stretch the skin so I could undergo reconstructive surgery months later. My cancer diagnosis made me realize that there were two roads in life I could choose from, one to be "bitter" or the other road being "hope". I chose the road of "hope". The outlook was good, I was cancer free, as I got married last year, life seem to be getting back to normal.

Until October 2019, when another mass was found on my right breast while doing my own self-examination. I immediately scheduled a visit with my oncologist surgeon, and she ordered an ultrasound right away. The findings from the radiologist, again showed an area of concern as I was told there was a suspicious malignancy and a breast biopsy would be needed. My thoughts immediately went to the fear of another cancer reoccurrence. It was heartbreaking but I knew I was not going down without a fight.

I had three biopsies taken and then I waited. I expected the next few days to be difficult so I tried to keep busy as I would only allow positive thoughts while I continue to remain hopeful. Sooner than expected, the day after my biopsy I received a call from my oncologist surgeon telling me my biopsy results came back negative for cancer the mass was benign. However, I will need to have another breast ultrasound in six months as we will continue to monitor it. This was the "best news" I felt like I had my life back. Cancer wants you to ignore going to the doctor and not having a routine imaging this way it has more time to spread to your body without you knowing it counting on it being too late by the time it's found.

Please listen to your doctors and get your annual mammogram/breast ultrasound, go for all your routine checkups, do your monthly self-breast exams. I am blessed and grateful to be a two-year survivor. I'm in remission and will continue to be closely monitored staying positive and hopeful. I'm very thankful to my amazing medical team that saved my life. As well as, the unconditional support from my friends, family, and most of all, my husband who's been my rock and supported my decisions every step of the way.

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The Importance of A Routine Checkup - Curetoday.com

How to cope with going bald before youre ready to – Dazed

Have you heard the story about Elisha and the Two bears? Well, Elisha was on his way to Bethel. Two boys bumped into him on the road and rinsed him for being bald. Go up, you baldhead; go up, you baldhead, they said. Elisha wasnt having that. He cursed those boys in the name of the Lord. Two female bears came out of the woods and slaughtered the boys, plus another 40 of their pals for good measure. The story appears in The Book of Kings, and what it tells us is even the prophets of The Old Testament were salty about losing their hair.

Fast forward a couple millennia and there I was, in my twenties, with my hairline running away like itd stolen money from my eyebrows. Before then, I guess Id been in denial about the inevitable demise of my hair. My dad is bald. He was once the centre of my universe, so I assumed all boys grew up to be big, strong men with shiny domes. When I clocked that wasnt the case, I pushed thoughts about thinning hair to the recesses of my mind.

My little bro, two years my junior, with long, thick Sampson-like locks, became convinced he was losing his hair at 17. It seemed laughable to me but he was devastated. He got proactive real quick, splashed the cash on miracle shampoos and laser combs, and made appointments with trichologists. He jumped on a routine of applying Minoxidil, a topical solution, to his scalp and taking Finasteride. These are the two most widely available treatments for male-pattern baldness; Minoxidil encourages blood-flow to hair follicles while Finasteride blocks the conversion of testosterone to dihydrotestosterone, the hormone that turns our precious hair against us. With both of these, the catch is that when you stop using them, the benefits are reversed, which helps explain why globally men spend 2.7 billion on baldness cures. Oh yeah, and Finasteride might stop your dick from working.

A fair chunk of that 2.7 billion is spent on hair transplants, by those stacking paper-like Premier League footballers. Chucking a few thousand pounds at a surgeon who can perform follicular unit transplantation, where strips of skin are removed from the back of the head and healthy follicles harvested, or follicular unit excision, where individual hair follicles are transplanted, is your best bet. If you watch Match of the Day youll know results may vary, but Andros Townsends hair transplant is the best Ive ever seen.

My little brother is 31 now, and still has an impressive mane. He stopped using hair-loss treatments in his mid-20s and shouldve blessed me with all the money he spent instead, as my hair was clearly on the way out. I made an appointment with The Belgravia Centre, a slick hair-loss clinic in Victoria, which in retrospect played out like a scene from Black Mirror or Maniac, where an unfathomably beautiful woman in a pristine lab coat reassured me that my future could be hairy, before presenting me with an unfathomably steep price list. I puked a bit in my mouth and left, resigned to my fate.

The process was a gradual one. I didnt actually shave my head until my 31st birthday, when my weak and wispy barnet had become too much of a burden. Before then, Id adopted a Peaky Blinders style trim, what Julius Caesar termed Illusion Styling before he linked Cleopatra, to accentuate the hair I did have. I slapped on plenty of product to safeguard against the cruellest enemy of many a balding man, the wind. And I did my utmost to spin out Beanie and Beard Season for as long as possible.

Hurtful banter is one of the great ways cis-het men express affection towards one another, so plenty of my friends and colleagues enjoyed rinsing me for the declining state of my head-top. The lads, lads, lads might view everything as fair game when it comes to taking the piss, but its now widely acknowledged that hair-loss can have a severe impact on psychological well-being and in some cases, trigger body dysmorphia. I work in education, and when one the children bopped up to me in the lunch-hall and simply asked, Mr K, why you lil bit bald? I decided enough was enough.

I hoped I might find shaving my head liberating, but I didnt. Ive struggled with my mental health to varying degrees since I was a teenager. Losing my hair gave me another reason to hate myself. My wellbeing has taken a steep downturn in the last couple of years. Its reasonable to say going bald has been one of the many factors contributing to this. A lot of my depression and anxiety revolves around death, and losing my hair is a constant reminder of my mortality.

Losing my hair gave me another reason to hate myself. My wellbeing has taken a steep downturn in the last couple of years. Its reasonable to say going bald has been one of the many factors contributing to this. Losing my hair is a constant reminder of my mortality

A positive aspect about going bald is I am definitely not alone in my struggles. The process affects 6.5 million men in the UK, up to 30 per cent of 30-year-old men and 50 per cent of 50-year-old men. I spoke to my fellow Bald Gang members, Tom and Jesse about their experiences.

Tom started losing his hair when he was 16. I used to have long black hair but I started noticing it more and more on my pillow and I became a bit obsessive about it, so I shaved it all off. I rate Tom for his decisiveness. He actually enjoys repping Bald Gang because hes never had to care about his hair throughout his adult life. Im actually really grateful for Jason Statham because he fully normalised being bald, hench, and chung. I just love bald, famous guys because they have a faint ridiculousness about them but theyre also like semi hard-men at the same time. I can relate to that a lot.

Tom and I play for the same football team. He is double hard. In a recent game, I smashed someone in a tackle, knackered myself and then came off. Tom replaced me. He flattened the same poor bloke, who shot up furiously and shouted, You again! Whats your problem? Has my identity been reduced to an interchangeable bald, bearded guy?

Jesse can relate. The number one bald life struggle is mistaken identity, for sure. He finds it annoying being compared to Freddie Gibbs and Mahershala Ali. If were keeping it real, thats way more appealing than being compared to Phil and Grant Mitchell. I didnt dwell on it when I first noticed at 23. One day I just shaved my head bald and havent looked back. Now Im like Tupac, picture me rolling in a whip, singing India Aries I Am Not My Hair. Id even say I feel sexier bald.

While Ive never had to consider the political implications of my hair, or lack of, Jesse has. Hair is political in the sense that were often taught from young that it needs to be tamed in some way, usually in the form of a skin fade or one all over. I can say that hair-loss and baldness has freed me from ever having to think about how my hairs perceived.

I guess its tempting to buy into the myth that being bald is symbolic of this powerful, super virile, turbo-testosterone fuelled manliness. Thats definitely an idea that my dad used to bat away any questions about his baldness when I was a boy. It means Im a real man, hed claim, before challenging me and my little bro to an arm wrestle. But is that idea helpful if youre trying to unpick the toxic masculinity that has impacted so dreadfully on your general wellbeing?

Writer, speaker, and editor of Fruitcake magazine, Jamie Windust offered me a radically different perspective on Bald Gang membership. Their decision to shave their head was partly to see whether they would feel comfortable in their femininity with a hairstyle that could be perceived as masculine. It actually allowed me to explore my femininity more and align myself with that essence of being non-binary, of being able to know there arent any rules with it and know that we arent bound by stereotypes. It allowed me to continue to give less care to what other people thought, definitely a tool for empowerment. Like Tom and Jesse, Jamie enjoys the freedom of a shaved head.

Im now two years deep into bald life. Im not at peace with my reflection and feel a sense of doom every time I step in front of the mirror to shave my head, before the regrowth reveals what Ive lost. But in that time Ive also accepted my issues run deeper than my scalp and Im in the process of confronting what lies beneath. And if that fails, Ill put on The Transporter.

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How to cope with going bald before youre ready to - Dazed

Type 2 diabetes symptoms: An unintentional loss of this could be a sign of the condition – Express

Type 2 diabetes is a condition which causes the levels of sugar in the blood to become too high. If blood sugar isnt controlled properly and stays too high, it can result in complications such as kidney failure, nerve damage, heart disease or stroke. Noticing the early warning signs are crucial in order to make the necessary changes in diet and lifestyle.

Often one assumes weight loss as good and healthy, when people are overweight.

For a person who undergoes a slow steady intentional weight loss using nutritional change and exercise is associated with beneficial effect on the heart, blood pressure and cholesterol levels.

In addition, weight loss can reduce insulin resistance and make muscles and fat tissues more sensitive to circulating insulin levels in the blood.

Intentional weight loss is therefore a good thing for people with diabetes, however unintentional weight loss is not.

READ MORE: Heart attack: Noticing this warning sign in your ear shouldnt be ignored

The Cleveland Clinic said: All of us can gain or lose a pound or two; we indulge a little too much and then we put in a few extra workouts.

"But if you havent tightened the belt on your diet or ramped up your exercise routine and your weight is still dropping, talk to your doctor.

"While weight loss of just a pound or two isnt a reason of concern, unexplained weight loss of 10 pounds or more may mean something is wrong.

"It could be an early sign of diabetes."

DONT MISS

Insulin is a hormone that allows the body to use glucose for energy.

If a person has type 2 diabetes, the body doesnt use insulin effectively and cant transport the glucose to the cells.

Instead, it builds up in the blood. When the glucose doesnt arrive in the cells, the body begins to think its starving and finds a way to compensate.

It creates energy by burning fat and muscle at a rapid pace and this causes unexplained weight loss.

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Type 2 diabetes symptoms: An unintentional loss of this could be a sign of the condition - Express

Lab-Grown Heart Muscles Have Been Transplanted Into a Human For The First Time – ScienceAlert

On Monday, researchers from Japan's Osaka University announced the successful completion of a first-of-its-kind heart transplant.

Rather than replacing their patient's entire heart with a new organ, these researchers placed degradable sheets containing heart muscle cells onto the heart's damaged areas - and if the procedure has the desired effect, it could eventually eliminate the need for some entire heart transplants.

To grow the heart muscle cells, the team started with induced pluripotent stem (iPS) cells. These are stem cells that researchers create by taking an adult's cells - often from their skin or blood - and reprogramming them back into their embryonic-like pluripotent state.

At that point, researchers can coax the iSP cells into becoming whatever kind of cell they'd like. In the case of this Japanese study, the researchers created heart muscle cells from the iSP cells before placing them on small sheets.

The patient who received the transplant suffers from ischemic cardiomyopathy, a condition in which a person's heart has trouble pumping because its muscles don't receive enough blood.

In severe cases, the condition can require a heart transplant, but the team from Osaka University hopes that the muscle cells on the sheet will secrete a protein that helps regenerate blood vessels, thereby improving the patient's heart function.

The researchers plan to monitor the patient for the next year, and they hope to conduct the same procedure on nine other people suffering from the same condition within the next three years.

If all goes well, the procedure could become a much-needed alternative to heart transplants - not only is sourcing iPS cells far easier than finding a suitable donor heart, but a recipient's immune system is more likely to tolerate the cells than a new organ.

"I hope that (the transplant) will become a medical technology that will save as many people as possible, as I've seen many lives that I couldn't save," researcher Yoshiki Sawa said at a news conference, according to The Japan Times.

This article was originally published by Futurism. Read the original article.

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Lab-Grown Heart Muscles Have Been Transplanted Into a Human For The First Time - ScienceAlert

Everything you need to know about MZ Skin products – harpersbazaar.com

In our regular feature #TheBrand, Bazaars beauty team look into an exciting and efficacious brand taking the beauty industry by storm. This time, its a doctor-backed skincare line combining luxury with lasting results.

In the past, weve happily soaked up skincare advice from celebrities, supermodels and self-appointed influencers. (In fact, weve even bought into brands created by them.) But now, those of us looking to settle down with a serious skincare regime one that promises a healthy, resilient complexion for good are rightfully turning to doctors for direction.

As we become increasingly invested in our skincare, favouring proven formulations over zeitgeisty trends, the door has been opened for a host of dermatologists, surgeons and doctors to launch their own brands. Armed with the best qualifications in the business, these experts combine ingredients knowledge with confidence, ensuring maximum potency with minimal contraindications.

The latest brand in this formidable category is MZ Skin, founded by Dr. Maryam Zamani. Not only is she a leading oculoplastic surgeon (aka eye doctor), but she's also one of London's most in-demand aesthetic doctors, working out of the Cadogan Clinic in Chelsea.

With a background in medical science, Zamani is perfectly positioned to create clinically proven products that speak to womens needs, providing a direct path to the balanced and healthy skin were all hoping to obtain. Truly understanding the actives, how they interact with the skin and what they can achieve is imperative in formulating powerful results, she says.

While most dermatologist and doctor-led brands tend to sit on the cold, clinical side of the skincare fence, MZ Skin is a visibly luxurious affair. Most of the doctor ranges now are made by men for women, which often means we lose an important aspect of skincare and wellness, explains Zamani, who treasures the sense of ritual in her own routine, seeing it as a powerful self-care tool. Taking a few moments to do something that is good for you and feels good to do has compounded positive impact.

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Proven actives are, unsurprisingly, the focal point of MZ Skin here, you can find some of the most effective brightening, rejuvenating and repairing formulas around.

Expect familiar ingredients in optimum levels of potency, and always stabilised for longevity. Vitamin C, peptides, acids, ceramides, stem cells and most recently retinol form the basis. Everything is free from mineral oil, (a harmless yet useless filler ingredient), and controversial paraben preservatives.

Naturally, Zamanis Soothe & Smooth eye cream is a stand-out. Hyaluronic acid provides moisture while ceramides strengthen the skin barrier, but its the unusual addition of albazia bark extract that proves her skincare nous. Also known as Persian silk tree extract, it is said to encourage the skin to produce collagen and elastin, leading to less surface lines.

If youre looking for a quick fix, the Radiance & Renewal mask is worth a try, but the savviest shoppers will head instead for the Cleanse & Clarify cleanser. Ticking off two steps in one, it can be used nightly as a deep cleanser, or left to linger as a pre-event mask. The hefty dose of alpha-hydroxy acids sloughs away dead skin cells, leaving skin looking brighter immediately after use.

Several brands are investing in at-home LED technology now, but MZ Skins Light Therapy Golden Facial Device is one of the most advanced available outside of a professional setting, thanks to the impressive five shades of LED it emits.

Light emitting diodes send out specific wavelengths that are then absorbed by the skin," explains Zamani. Red and yellow light helps boost collagen production, while blue light kills bacteria that can lead to acne. Green LED can be absorbed by melanin in the skin to help improve the appearance of pigmentation.

But it's the inclusion of a fifth light setting that make's Zamani's device a true stand-out. White, or near-infrared light, penetrates remarkably deep into the dermis to promote wound healing and skin repair: a benefit scarcely found in at-home devices.

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Artificial pancreas uses oxygen tank to better-produce insulin – New Atlas

People living with Type 1 diabetes are certainly faced with some daily hassles, such as finger-prick blood-glucose tests and insulin injections. An Israeli biomedical firm is now stating that such tasks may soon no longer be necessary, however, thanks to its prototype implant.

Developed by Beta-O2 Technologies, the titanium-bodied device is known as the Bio-artificial Pancreas, or the Air for short.

Measuring about 2.5 by 2.5 inches (64 mm), it incorporates a macrocapsule containing live pancreatic cells (aka islets), along with an oxygen tank. The cells can be obtained from a human donor, from the pancreas of a pig, or they can be grown from the patient's own stem cells in a lab. An external port on the oxygen tank allows the patient to refill it with oxygen on a weekly basis.

Once implanted under the skin, the Air is claimed to continuously monitor blood glucose levels, utilizing the oxygen-fed pancreatic cells to produce and deliver insulin whenever necessary. According to the company, the oxygen supply is the key to the device's success other experimental islet-equipped artificial pancreases, which rely on the limited amount of oxygen within the patient's bloodstream, reportedly have difficulty keeping the cells viable.

Additionally, no immunosuppressive treatments are required in order to keep the new implant from being rejected by the body. That said, the company states that it can easily be removed if necessary.

The device has already been trialled on four patients in Sweden, who experienced no side effects after carrying the implant for 10 months the cells remained viable throughout that period. A second-generation version is now being tested on diabetic rats, which have so far maintained normal glucose levels. A larger human trial should begin later this year.

Source: Beta-O2 Technologies

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Artificial pancreas uses oxygen tank to better-produce insulin - New Atlas

Diane Francis: Treating aging like a disease is the next big thing for science – Financial Post

LOS ANGELES Extending everyones life in a healthy fashion is one of many goals held by Peter Diamandis, a space, technology, aeronautics and medicine pioneer. But the new field known as longevity is of interest to everyone.

One hundred will be the new 60, he told his Abundance360 conference recently. The average human health span will increase by 10+ years this decade.

He, like others in Silicon Valley, believe that aging is a disease and the result of planned obsolescence, or the wearing down of, or damage to, certain critical mechanisms, sensors and functions within our bodies. Longevity research is about identifying the core problems to mitigate or reverse them.

The average human health span will increase by 10+ years this decade

Peter Diamandis

The exponential technologies of artificial intelligence, machine learning and computational heft have been harnessed, and have resulted in breakthroughs and clinical trials that are just a handful of years away from deployment on human patients. The main areas of research include: Stem cell supply restoration, regenerative medicine to regrow damaged cartilage, ligaments, tendons, bone, spinal cords and neural nerves; vaccine research against chronic diseases such as Alzheimers; and United Therapeutics that is developing technology to tackle the organ shortage for humans by genetically engineering organs grown in pigs.

New tools are accelerating the development of new, tailor-made medicines at a fraction of todays costs. Alex Zhavoronkov of Insilico Medicine told the conference that drugs take 10 years and cost $3 billion to research and 90 per cent fail. But his company can test in 46 days using human tissue, then model, design and produce in weeks with the help of advanced computing.

In regenerative medicine, advances appear to be arriving relatively soon. For instance, Diamandis asked the audience if anyone was awaiting a knee replacement operation and suggested that they might be better off postponing these until 2021 when regenerative medicine innovator, Samumed LLC in San Diego, is expected to complete phase three clinical trials of cartilage regeneration.

Samumeds founder, Osman Kibar, said his company has successfully injected a protein that activates nearby stem cells into producing new cartilage in a knee or a new disc in a spine. Preliminary success has also occurred to regenerate muscle and neural cells, retinal cells, skin and hair. Not surprisingly, the private company just raised US$15.5 billion to continue research and product development.

Another hot area of early stage research is called epigenetic reprogramming or identifying how to reverse deficiencies in proteins, stem cells, chromosomes, genes that repair DNA and damaged cells. A leader in this field is David Sinclair, professor of genetics at the Harvard Medical School, whose new book Lifespan: Why We Age and Why We Dont Have To explains the science and offers advice.

Aging is a disease, and that disease is treatable, he said. As research progresses toward actual corrections or cures, there are also lifestyle habits that can slow down the aging process, or avert damage. For instance, he said humans should replicate some behaviour that their bodies were designed for. Obviously, exercising and sleep are necessary but so is eating less often. You should feel hungry regularly, he said.

Another condition that is useful to emulate is hormesis, a scientific term for what Neitzsche posited which was that that which does not kill us makes us stronger. Sinclair recommends stressing our bodies with temperature changes such as going from a hot sauna to rolling in the snow. This invigorates the bodys processes and cells.

Theres also xenohormesis or gaining benefits from eating plants that have been environmentally stressed, therefore contain more beneficial nutrients. For instance, drought-stressed or wild strawberries have better flavour but they also are enhanced with additional antioxidant capacity and phenol content.

The age of 100 is easily in sight now, said Diamandis. And kids born today can expect to live to 105.

Financial Post

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Diane Francis: Treating aging like a disease is the next big thing for science - Financial Post

Orchard Therapeutics Announces FDA Granted Orphan Drug Designation for OTL-102 for the Treatment of X-linked Chronic Granulomatous Disease (X-CGD) -…

Early Clinical Data Support ex vivo Hematopoietic Stem Cell Gene Therapy as a Potentially Promising Treatment Option for X-CGD

BOSTON and LONDON, Jan. 29, 2020 (GLOBE NEWSWIRE) -- Orchard Therapeutics (ORTX), a global gene therapy leader, today announced that it has received orphan drug designation from the U.S. Food and Drug Administration (FDA) for OTL-102, the companys ex vivo autologous hematopoietic stem cell (HSC) gene therapy being investigated for the treatment of X-linked chronic granulomatous disease (X-CGD). The FDA may grant orphan designation to drugs and biologics intended to treat a rare disease or condition affecting fewer than 200,000 persons in the U.S.

We are pleased to have received this orphan drug designation from the FDA, which recognizes the potential of OTL-102 to address a rare population of patients with X-CGD, a life-threatening disease with a critical unmet need, said Anne Dupraz-Poiseau, Ph.D., chief regulatory officer at Orchard. We are encouraged by the clinical data published to date and are eager to advance OTL-102 development as quickly as possible for patients with X-CGD.

Orphan designation qualifies a company for certain benefits, including financial incentives to support clinical development and the potential for seven years of market exclusivity in the U.S. upon regulatory approval.

Early academic clinical trial data for OTL-102 that was recently published in Nature Medicine demonstrates that ex vivo autologous HSC gene therapy may be a promising approach for the treatment of X-CGD. The letter, which wasled by researchers at the University of California, Los Angeles (UCLA)including Donald B. Kohn, M.D., one of the study's lead investigators and professor of microbiology, immunology and molecular genetics at UCLA and Great Ormond Street Hospital (UK), provides an analysis of safety and efficacy outcomes in nine severely affected patients with X-CGD. At 12 months post-treatment, six of seven surviving patients, all of whom were adults or late adolescents, exceeded the minimum threshold hypothesized in published literature to demonstrate potential clinical benefit, defined as 10% functioning, oxidase-positive neutrophils in circulation and have discontinued preventive antibiotics.1

As previously reported, two pediatric patients died within three months of treatment from complications deemed by the investigators and independent data and safety monitoring board to be related to pre-existing comorbidities due to advanced disease progression and unrelated to OTL-102. Investigators are planning to enroll additional pediatric patients in 2020 to assess outcomes in this patient population. In addition, there is work underway to improve the efficiency of the drug product manufacturing process prior to initiating a registrational study.

Patients with X-CGD experience significantly reduced quality and length of life, and currently must take daily medications that do not eliminate the risk of fatal infections, said Adrian Thrasher, Ph.D., M.D., one of the studys lead investigators and professor of pediatric immunology and Wellcome Trust Principal Research Fellow at UCL Great Ormond Street Institute of Child Health in London. These data demonstrate that OTL-102 has the potential to become a transformative new treatment option for patients with X-CGD with the evaluation of longer follow up and more patients.

About X-CGDX-linked chronic granulomatous disease (X-CGD) is a rare, life-threatening, inherited disease of the immune system caused by mutations in the cytochrome B-245 beta chain (CYBB) gene encoding the gp91phox subunit of phagocytic NADPH oxidase. Because of this genetic defect, phagocytes, or white blood cells, of X-CGD patients are unable to kill bacteria and fungi, leading to chronic, severe infections. The main clinical manifestations of X-CGD are pyoderma, a type of skin infection; pneumonia; colitis; lymphadenitis, an infection of the lymph nodes; brain, lung and liver abscesses; and osteomyelitis, an infection of the bone. Patients with X-CGD typically start to develop infections in the first decade of life, and an estimated 40 percent of patients die by the age of 35.2 The incidence of X-CGD is currently estimated at between 1 in 100,000 and 1 in 400,000 male births.

Story continues

About OTL-102OTL-102 is an ex vivo autologous hematopoietic stem cell gene therapy being studied for the treatment of X-CGD. The studies are supported by multiple institutions including the California Institute of Regenerative Medicine, the Gene Therapy Resource Program from the National Heart, Lung, and Blood Institute, the National Institute of Allergy and Infectious Diseases Intramural Program, the Wellcome Trust and the National Institute for Health Research Biomedical Research Centres at Great Ormond Street Hospital for Children NHS Foundation Trust, University College London Hospitals NHS Foundation Trust and University College London. Preclinical and clinical development of OTL-102 had originally been initiated by Genethon (Evry, France) and funded by an EU framework 7 funded consortium, NET4CGD, before being licensed to Orchard.

About OrchardOrchard Therapeutics is a global gene therapy leader dedicated to transforming the lives of people affected by rare diseases through the development of innovative, potentially curative gene therapies. Our ex vivo autologous gene therapy approach harnesses the power of genetically-modified blood stem cells and seeks to correct the underlying cause of disease in a single administration. The company has one of the deepest gene therapy product candidate pipelines in the industry and is advancing seven clinical-stage programs across multiple therapeutic areas, including inherited neurometabolic disorders, primary immune deficiencies and blood disorders, where the disease burden on children, families and caregivers is immense and current treatment options are limited or do not exist.

Orchard has its global headquarters in London and U.S. headquarters in Boston. For more information, please visit http://www.orchard-tx.com, and follow us on Twitter and LinkedIn.

Forward-Looking StatementsThis press release contains certain forward-looking statements about Orchards strategy, future plans and prospects, which are made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements may be identified by words such as anticipates, believes, expects, plans, intends, projects, and future or similar expressions that are intended to identify forward-looking statements. Forward-looking statements include express or implied statements relating to, among other things, the therapeutic potential of Orchards product candidates, including the product candidate or candidates referred to in this release, Orchards expectations regarding the timing of regulatory submissions for approval of its product candidates, including the product candidate or candidates referred to in this release, the timing of interactions with regulators and regulatory submissions related to ongoing and new clinical trials for its product candidates, the timing of announcement of clinical data for its product candidates and the likelihood that such data will be positive and support further clinical development and regulatory approval of these product candidates, and the likelihood of approval of such product candidates by the applicable regulatory authorities. These statements are neither promises nor guarantees and are subject to a variety of risks and uncertainties, many of which are beyond Orchards control, which could cause actual results to differ materially from those contemplated in these forward-looking statements. In particular, the risks and uncertainties include, without limitation: the risk that any one or more of Orchards product candidates, including the product candidate or candidates referred to in this release, will not be successfully developed or commercialized, the risk of cessation or delay of any of Orchards ongoing or planned clinical trials, the risk that prior results, such as signals of safety, activity or durability of effect, observed from preclinical studies or clinical trials will not be replicated or will not continue in ongoing or future studies or trials involving Orchards product candidates,the delay of any of Orchards regulatory submissions, the failure to obtain marketing approval from the applicable regulatory authorities for any of Orchards product candidates, the receipt of restricted marketing approvals, and the risk of delays in Orchards ability to commercialize its product candidates, if approved. Given these uncertainties, the reader is advised not to place any undue reliance on such forward-looking statements.

Other risks and uncertainties faced by Orchard include those identified under the heading "Risk Factors" in Orchards annual report on Form 20-F for the year ended December 31, 2018, as filed with the U.S. Securities and Exchange Commission (SEC) on March 22, 2019, as well as subsequent filings and reports filed with the SEC. The forward-looking statements contained in this press release reflect Orchards views as of the date hereof, and Orchard does not assume and specifically disclaims any obligation to publicly update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as may be required by law.

References1Kang et al. Blood. 2010;115(4):783-912van den Berget al. PLoS One. 2009;4(4):e5234

Contacts

InvestorsRenee LeckDirector, Investor Relations+1 862-242-0764Renee.Leck@orchard-tx.com

MediaMolly CameronManager, Corporate Communications+1 978-339-3378media@orchard-tx.com

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Orchard Therapeutics Announces FDA Granted Orphan Drug Designation for OTL-102 for the Treatment of X-linked Chronic Granulomatous Disease (X-CGD) -...

Mythbuster: ‘I need to let the air get to this wound’ – Nursing in Practice

It is common for patients to suggest that their wound needs to breathe in order to heal. These thoughts often come from older family members citing that, for example, a childs scabbed knee healed up without concern. But it is essential for the treating clinician to explain the importance of creating the right environment for wound healing for acute and chronic wounds based on the concept of moist wound healing established more than 50 years ago.1

Wound care in the UK carries a significant cost pressure for the NHS. The prevalence of wounds, inconsistencies in assessment of the wounds and the number of wounds contribute significantly to the burden on already overstretched health services.2

In 1962,1 Winter demonstrated that superficial acute skin wounds in pigs healed more quickly when covered with a film to create a moist environment, compared with wounds left exposed to air. This study evidenced that a moist environment encourages faster replication of epithelial cells and therefore faster wound healing. These epithelial cells migrate across a moist wound surface with ease, but a dry scab acts as a barrier to new cells trying to travel across the wound bed. This work has been widely cited in academic literature since it was first published. It is considered by wound care clinicians to be a seminal publication and will no doubt continue to be referenced.

There are of course some caveats for clinicians and moist wound healing may not always be the most appropriate plan of care for a patient. Clinicians should complete a holistic patient and wound assessment and then deliver the most appropriate option.

The concept and delivery of moist wound healing may not be appropriate in the following instances.3 This is not an exhaustive list but provides examples to consider and explore further:

Since Winters original work was published,1 there has been a significant number of experimental and clinical studies providing further evidence that this method provides advantages for the patient. These studies were compiled into a table and published by Rippon, Ousey, Rogers and Atkin in 20164- you can view the full table and the breakdown of the evidence here. Some of the benefits of moist wound treatment listed include:

Day-to-day practice

A small scab may initially develop at the site of a wounded area of skin as a natural result of the haemostasis phase of the healing process. Initially this may be of benefit to stem blood flow, but if left, this scab can become detrimental to wound healing, as discussed. Similarly, a focus on ensuring moisture is present at the wound bed can lead clinicians to make a wound too wet. This can also have a detrimental effect on the healingprocess, causing maceration on the wound edges and damaging the surrounding healthy tissue.4

A full patient and wound assessment allows for a plan of care based on the evidence and helps to prevent complications.

There is a wealth of products available in the UK via FP10 prescription and supply chain routes that support the concept of moist wound healing and allow a wound to be maintained in optimum conditions.

Final word

As a tissue viability nurse specialist, I teach clinicians that if a wound is wet, they should dry it up. If it is dry, they should add some moisture. Tissue viability nurse specialists across the UK have developed formularies in clinical areas to assist clinicians in making an informed decision on wound care products that support the right healing environment, as well as adjunct therapies such as compression hosiery and bandaging, emollients, skin barrier film and cream protectors, debridement products. I encourage clinicians to familiarise themselves with the local formulary, so they are fully informed of the availability and use of all products. These productshave been developed to facilitate faster wound healing, reduce pain, improve scar formation and improve quality of life for patients. It is important to choose them carefully and use them correctly.

If a wound is not infected, leaving a dressing in place is better than changing it frequently. Minimise dressing changes by assessing the wound carefully and choosing a wound care product that can effectively manage the exudate.

Clinicians should also familiarise themselves with the products that are not recommended for wound care as they will not facilitate a moist environment and support wound healing products such as tulle dressings, gauze and cotton wool.

Build your knowledge so you can share the wealth of evidence when you need to discuss wound management with patients and also if you need to challenge outdated practices if they are suggested by other clinicians.

Amy Verdon is a clinical nurse specialist in tissue viability at University Hospitals Coventry and Warwickshire NHS Trust

References

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Mythbuster: 'I need to let the air get to this wound' - Nursing in Practice

Six patients with rare blood disease are doing well after gene therapy clinical trial – Mirage News

UCLA Broad Stem Cell Research Center/Nature Medicine

At left, image shows white blood cells (red) from one of the X-CGD clinical trial participants before gene therapy. At right, after gene therapy, white blood cells from the same patient show the presence of the chemicals (blue) needed to attack and destroy bacteria and fungus.

UCLA researchers are part of an international team that reported the use of a stem cell gene therapy to treat nine people with the rare, inherited blood disease known as X-linked chronic granulomatous disease, or X-CGD. Six of those patients are now in remission and have stopped other treatments. Before now, people with X-CGD which causes recurrent infections, prolonged hospitalizations for treatment, and a shortened lifespan had to rely on bone marrow donations for a chance at remission.

With this gene therapy, you can use a patients own stem cells instead of donor cells for a transplant, said Dr. Donald Kohn, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA and a senior author of the new paper, published today in the journal Nature Medicine. This means the cells are perfectly matched to the patient and it should be a much safer transplant, without the risks of rejection.

People with chronic granulomatous disease, or CGD, have a genetic mutation in one of five genes that help white blood cells attack and destroy bacteria and fungus using a burst of chemicals. Without this defensive chemical burst, patients with the disease are much more susceptible to infections than most people. The infections can be severe to life-threatening, including infections of the skin or bone and abscesses in organs such as lungs, liver or brain. The most common form of CGD is a subtype called X-CGD, which affects only males and is caused by a mutation in a gene found on the X-chromosome.

Other than treating infections as they occur and taking rotating courses of preventive antibiotics, the only treatment option for people with CGD is to receive a bone marrow transplant from a healthy matched donor. Bone marrow contains stem cells called hematopoietic, or blood-forming, stem cells, which produce white blood cells. Bone marrow from a healthy donor can produce functioning white blood cells that effectively ward off infection. But it can be difficult to identify a healthy matched bone marrow donor and the recovery from the transplant can have complications such as graft versus host disease, and risks of infection and transplant rejection.

Patients can certainly get better with these bone marrow transplants, but it requires finding a matched donor and even with a match, there are risks, Kohn said. Patients must take anti-rejection drugs for six to 12 months so that their bodies dont attack the foreign bone marrow.

In the new approach, Kohn teamed up with collaborators at the United Kingdoms National Health Service, France-based Genethon, the U.S. National Institute of Allergy and Infectious Diseases at the National Institutes of Health, and Boston Childrens Hospital. The researchers removed hematopoietic stem cells from X-CGD patients and modified the cells in the laboratory to correct the genetic mutation. Then, the patients own genetically modified stem cells now healthy and able to produce white blood cells that can make the immune-boosting burst of chemicals were transplanted back into their own bodies. While the approach is new in X-CGD, Kohn previously pioneered a similar stem cell gene therapy to effectively cure a form of severe combined immune deficiency (also known as bubble baby disease) in more than 50 babies.

The viral delivery system for the X-CGD gene therapy was developed and fine-tuned by Professor Adrian Thrashers team at Great Ormond Street Hospital, or GOSH, in London, who collaborated with Kohn. The patients ranged in age from 2 to 27 years old; four were treated at GOSH and five were treated in the U.S., including one patient at UCLA Health.

Two people in the new study died within three months of receiving the treatment due to severe infections that they had already been battling before gene therapy. The seven surviving patients were followed for 12 to 36 months after receiving the stem cell gene therapy. All remained free of new CGD-related infections, and six of the seven have been able to discontinue their usual preventive antibiotics.

None of the patients had complications that you might normally see from donor cells and the results were as good as youd get from a donor transplant or better, Kohn said.

An additional four patients have been treated since the new paper was written; all are currently free of new CGD-related infections and no complications have arisen.

Orchard Therapeutics, a biotechnology company of which Kohn is a scientific co-founder, acquired the rights to the X-CGD investigational gene therapy from Genethon. Orchard will work with regulators in the U.S. and Europe to carry out a larger clinical trial to further study this innovative treatment. The aim is to apply for regulatory approval to make the treatment commercially available, Kohn said.

Kohn and his colleagues plan to develop similar treatments for the other forms of CGD caused by four other genetic mutations that affect the same immune function as X-CGD.

Beyond CGD, there are also other diseases caused by proteins missing in white blood cells that could be treated in similar ways, Kohn said.

The research was supported by grants from the California Institute for Regenerative Medicine; the National Heart, Lung and Blood Institute and the National Institute of Allergy and Infectious Diseases, both at the National Institutes of Health; the Wellcome Trust; Boston Childrens Hospital; the National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre; the Institute for Health Research Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London; the Great Ormond Street Hospital Childrens Charity; the AFM-Tlthon, French Muscular Dystrophy Association; and the European Commission through the Net4CGDconsortium.

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Six patients with rare blood disease are doing well after gene therapy clinical trial - Mirage News

Study suggests Parkinson’s present from birth and may be preventable – New Atlas

Parkinsons disease is an illness that most often affects older people, but new research suggests it may actually be present in the brain right from birth and even earlier. Scientists from Cedars-Sinai have now found that in the brains of young-onset Parkinsons patients, malfunctioning neurons are always there but it takes 20 to 30 years for the symptoms to accumulate. Thankfully, a drug thats already on the market could help prevent the disease from taking hold if caught early enough.

Parkinsons disease primarily affects neurons in the brain that produce dopamine, eventually causing muscle weakness and stiffness, tremors, and balance problems. Most of the time, the disease is diagnosed in older people over the age of 60, but around 10 percent of cases occur in those aged between 21 and 50.

In a new study, scientists from Cedars-Sinai set out to investigate whether there were any early warning signs in the neurons of patients whod been diagnosed with Parkinsons before they turned 50. To do so, they created induced pluripotent stem cells (IPSCs) from young-onset Parkinsons patients, which can then be turned into almost any other cells in the body.

The researchers used the IPSCs to grow dopamine neurons in lab dishes. As they watched them develop, the team noticed that cell structures called lysosomes were malfunctioning. These structures are responsible for breaking down unneeded or worn-out proteins so when they dont work as well as they should, proteins begin to pile up. And one such protein that the team spotted in higher amounts is called alpha-synuclein, which is implicated in many forms of Parkinsons.

"Our technique gave us a window back in time to see how well the dopamine neurons might have functioned from the very start of a patients life, says Clive Svendsen, senior author of the study. "What we are seeing using this new model are the very first signs of young-onset Parkinsons. It appears that dopamine neurons in these individuals may continue to mishandle alpha-synuclein over a period of 20 or 30 years, causing Parkinsons symptoms to emerge.

Next up, the team investigated whether the condition could potentially be treated or even prevented. After testing a series of drugs, they found one that looked promising PEP005, which has already been approved by the FDA for use against skin precancers. The researchers found that PEP005 works to reduce the levels of alpha-synuclein, as well as another abnormally-abundant enzyme called protein kinase C, whose role in Parkinson's remains unclear.

The treatment looks promising, but for now its only been shown to work in mice and lab-grown cells, so it wont necessarily translate to human trials. The team plans to continue working on this, as well as figuring out how to adapt PEP005 for use in the brain at the moment, its only available as a topical gel, since it's for treating skin cancer.

The research was published in the journal Nature Medicine.

Source: Cedars-Sinai

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Study suggests Parkinson's present from birth and may be preventable - New Atlas

Local News Doctors weigh in on pros and cons of genetic testing kits Brooke Hafs 5 – WGBA-TV

APPLETON, Wis. (NBC26) -- Genetic testing kits have grown in popularity.

Doctors say there's a time where it is appropriate to use them and a time when the information might not be sufficient.

At 59-years-old, Robin Vandermoss was diagnosed with cancer.

"It has tracked through my father and his father," said Vandermoss. "I just kind of want to put the puzzle together."

Now more than 6 months later he's undergoing genetic testing at ThedaCare.

"Hopefully we end up with some results that can be useful for my children and their children going on," said Vandermoss.

He's taking a route that doctors say is best under his circumstances.

As direct-to-consumer genetic testing kits grow in demand, doctors are informing people there are times to use them and times to seek an alternate route.

"If anybody has a strong personal or family history of cancer, heart disease or other conditions running in their family, then they really need a more formal evaluation," said Bobby McGivern, a Genetic Counselor with ThedaCare Regional Cancer Center.

Here's how these tests work.

You send a saliva sample in the mail. Your sample is tested in a lab and you receive your results revealing a plethora of new information about yourself.

Some examples of traits you can learn from a direct-to-consumer kit are:

Doctors say if you choose to use a gene testing kit that you've ordered online it's best to read the fine print.

Make sure you understand the capabilities of the test and look closely at the privacy information so you know what the lab is doing with your DNA.

Overall doctors say direct-to-consumer genetic testing kits have inspired a valuable trend.

"Families are talking more about family history," said McGivern. "They're asking some of the older relatives what is in the family, or maybe they're initiating some conversations with primary care doctors that they wouldn't have otherwise."

Use the kits wisely and seek a genetics referral from your primary care doctor if you have risk factors or a family history.

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Local News Doctors weigh in on pros and cons of genetic testing kits Brooke Hafs 5 - WGBA-TV

Medicare to Cover Gene Tests in Inherited Breast, Ovarian Cancer – Medscape

Medicare will pay for certain genetic tests for people with inherited ovarian and breast cancer while allowing Medicare administrative contractors (MACs) flexibility to decide whether to cover these tests for other uses.

The Centers for Medicare & Medicaid Services (CMS) on Monday released an update of its payment rules for diagnostic tests using next-generation sequencing (NGS).

It was just in 2018 that Medicare issued its first national coverage policy for this kind of testing, opting to cover NGS for recurrent, relapsed, refractory, metastatic, or advanced cancers (stage III or IV). But the giant federal health program has faced calls to revise its coverage of NGS, even as researchers continue to try to prove strong clinical benefits for this testing.

"The evidence for ovarian and breast cancer suggests that using NGS to identify germline mutations can lead to better stratification of patients in the physician management of inherited cancers of the breast and ovary," CMS staff wrote in the decision memo.

The American Society of Breast Surgeons recommends that all patients with breast cancer be offered universal genetic testing. However, the question of whether all breast cancer patients should be tested with multigene panels remains controversial, as reported previously by Medscape Medical News, with critics arguing that "more genes create more problems." A pertinent issue, until now, has been the question of who should pay for this testing.

That issue has now been resolved, at least for Medicare patients.

As part of this mandated coverage, Medicare will require use of NGS tests that have been approved by the US Food and Drug Administration (FDA). In these cases, results must be provided to physicians for management of the patient using a report template to specify treatment options, CMS said.

Medicare covers about 60 million Americans who are aged 65 years or older or who have disabilities. Its policies can influence those of other insurers, even beyond its role as the largest single purchaser of healthcare in the United States. Many groups and individuals asked CMS during its reconsideration of the NGS payment policy to mandate national coverage of other cancers. For now, the agency has rebuffed those requests while allowing MACs discretion in setting payment policies for NGS tests.

"At this time, there is insufficient evidence of clinical utility for other cancer types including male breast cancer, colorectal, lung, pancreatic and prostate cancer," CMS staff wrote in the memo while stressing that "evidence in this field is rapidly developing."

In the memo, CMS officials said the agency's intent is "to expand coverage" of NGS.

With this aim, CMS made several revisions to its draft coverage decision.

These included clarifying language to emphasize MACs' ability to consider coverage "for any cancer diagnosis including tests that are not FDA approved or cleared for breast and ovarian cancer provided all the criteria is met."

The memo also spelled out that MACs have discretion even for uses outside the scope of the national coverage decision.

The contractors have discretion to determine coverage of diagnostic laboratory tests using NGS "for any non-cancer (eg, infectious disease and heart disease)," CMS staff wrote.

CMS also said it changed its stance about cases of repeated NGS testing for patients.

"In response to public comments and to support further innovation and patient access, we have clarified our decision to include coverage for appropriate repeat NGS testing for germline (inherited) cancer and somatic cancers when criteria are met," CMS said.

However, agency staff noted limitations with the current body of evidence about use of NGS testing. These include a lack of meta-analyses and randomized controlled trials that specifically addressed NGS testing. The available studies "varied in quality for a number of reasons," including small samples of patients, agency staff wrote.

"Of all of the different types of cancers associated with germline mutations, only studies of breast and ovarian cancer had high quality evidence, and were able to demonstrate clinical utility through the use of NGS," CMS staff said.

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Genetic testing confirms first case of white-nose syndrome in a fringed myotis bat – The Reflector

White-nose syndrome, an often-fatal disease of hibernating bats, has been confirmed for the first time in a fringed myotis (Myotis thysanodes) in King County. This finding brings the total number of bat species confirmed with the disease in North America to 13.

First seen in North America in 2006 in eastern New York, white-nose syndrome is a fungal disease that has killed millions of hibernating bats in eastern North America and has now spread to 33 states and seven Canadian provinces. The disease does not affect humans, livestock or other wildlife.

According to the release, the disease is caused by the fungus Pseudogymnoascus destructans, which attacks the skin of hibernating bats and damages their delicate wings, making it difficult to fly. Infected bats often leave hibernation too early, which causes them to burn through their fat reserves and become dehydrated or starve to death.

The Cedar River Education Center near North Bend reported a dead bat outside its facility in April 2017. A biologist with the Washington Department of Fish and Wildlife (WDFW) retrieved the dead bat and did a field test using ultraviolet (UV) light to detect the fungus that causes white-nose syndrome. Under UV light, bats with white-nose syndrome usually have an orange glow on their wings.

The North Bend bat was later confirmed to have white-nose syndrome by the University of California, Davis School of Veterinary Medicine. To identify its bat species, the Northern Arizona Universitys bat ecology and genetic lab tested the bat and although the results did not show a conclusive identification, scientists were able to narrow it down to two closely-related bat species long-eared myotis and fringed myotis.

With the possibility of a new bat species affected by white-nose syndrome, we explored ways to confirm the species using additional genetic testing, Abby Tobin, white-nose syndrome coordinator for WDFW said in the release. Fortunately, our partners at the U.S. Geological Survey (USGS) National Wildlife Health Center in Madison, Wisconsin stepped up to the challenge.

Jeff Lorch, a microbiologist at the USGS National Wildlife Health Center, used nuclear DNA testing to confirm the bat as a fringed myotis in December 2019.

There are two parts of a cell that carry DNA the nucleus and the mitochondria, Lorch said in the release. Most bat genetic testing has used mitochondria DNA, which does not allow us to distinguish the long-eared bat from the fringed bat. By using nuclear DNA, we were able to get more accurate results.

According to the release, fringed bats are widely dispersed in dry forests throughout western North America from Mexico to British Columbia. However, there is a lack of data on the bats population size, health trends, or where they hibernate in winter.

Tracking white-nose syndrome and its effects on bat populations is challenging when little is known about bats in Washington, and this species in particular, Tobin said in the release. The confirmation of white-nose syndrome in another bat species is a reminder of how much we still have to learn about this devastating disease.

In 2016, scientists first documented white-nose syndrome in Washington near North Bend in King County. Since then, WDFW has confirmed 46 cases of the disease and/or the fungus in four bat species in the state. A timeline of fungus and white-nose syndrome detections in Washington is available online atwdfw.wa.gov/bats.

WDFW staff urge people to not handle wild animals, and to not touch bats that appear sick or are found dead. Even though the fungus is primarily spread by bats themselves, humans can unintentionally spread it as well. People can carry fungal spores on clothing, shoes, or recreation equipment that touches the fungus.

Those who find sick or dead bats, or notice bats acting strangely, such as flying outside during the day or in freezing weather, can report their sightings online at wdfw.wa.gov/bats or call the WDFW at (360) 902-2515. WDFW also seeks reports of groups of healthy bats.

To learn more about the disease and the national white-nose syndrome response, and to get the most updated decontamination protocols and other guidance documents, visit whitenosesyndrome.org.

For more information on Washington bats, visit https://wdfw.wa.gov/species-habitats/living/species-facts/bats.

WDFW

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Genetic testing confirms first case of white-nose syndrome in a fringed myotis bat - The Reflector

Home DNA kits, not insurers, are the real privacy risk – Tampa Bay Times

The real privacy risks are DNA kits

Insurers want your genetic info | Jan. 13

As at-home genetic testing kits grow in popularity, some lawmakers in Florida are raising important concerns about the privacy risks facing consumers. But the bill recently brought forward by Rep. Chris Sprowls a proposal that met significant pushback in the Senate last year would fail to hold the companies that sell these tests accountable, and worse, let government tell Floridians what they can and cannot do with their own genetic code. Sprowls proposal attempts to prevent a hypothetical future in which life, long-term care or disability insurers all strictly regulated somehow access genetic information without a persons consent. Sprowls says it is conceivable that the alternate reality he sets up could come true and asks people to imagine what it would be like. He invents a scenario albeit extreme, in his words where certain types of insurance are only available to a genetic superclass. This is the stuff of science fiction, not the basis of a policy that could disrupt the life, long-term care and disability insurance markets and affect millions of Floridians.

Lawmakers should focus on the real threat consumers face, as direct-to-consumer genetic testing companies operate in a Wild West environment. Instead of trying to thwart an imagined future by making a preemptive strike on insurers, Florida should set clear rules for these companies.

Lawmakers should develop a solution that actually addresses the root problem: Many at-home genetic testing companies are roping consumers into exploitative agreements they do not understand and then sharing their private information far and wide.

Wanda Grubbs Schwerer, Belleair Bluffs

East Lake fights Tarpon annexation | Jan. 27

Tarpon Springs and Pinellas County officials should oppose any annexations of East Lake and Lake Tarpon areas for development. These areas should remain rural and natural. There is a greater benefit to the environment and the culture of our county by leaving these properties zoned agricultural and low density. The annexation plan proposed by Pioneer Homes would greatly add to suburban sprawl, which has already been detrimental to the character of Tarpon Springs, once a scenic small town surrounded by rural areas and wilderness. It will further isolate the wildlife at Brooker Creek Preserve, and endanger wildlife with heavy automobile traffic. What Pioneer Homes is achieving in short-term profit for its owners will come at a severe cost to everyone else. The loss of our rural areas, our wilderness and the character of our communities is irreplaceable.

Joseph Weinzettle, Tarpon Springs

Senate must hear Bolton | Column, Jan. 28

Does anyone believe that John Boltons testimony would sway enough Republican senators? Many dont believe the president committed an impeachable offense even if the accusation turns out to be true. Its time for the Republicans to high-five. This ones over.

Hal Batey, St. Petersburg

At least one important witness is absent from the impeachment trial of Donald J. Trump. Not John Bolton. The missing witness is someone who would call upon the senators who sit in judgment of the president to reflect upon his background as a person, businessman and politician, and ask themselves: Is Donald Trump capable of this wrongdoing? Or is he simply incapable of such treachery? Does such a credible character witness exist anywhere?

Fred Kalhammer, Sun City Center

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Genes Previously Linked to Heart Condition Disputed – Clinical OMICs News

A new analysis of available data has convinced a panel genomic experts that nine genes previously believed to be associated with a rare, genetic heart conditionlong QT syndromewere an erroneously linked to the condition, as revealed in a new study funded by the National Human Genome Research Institute (NHGRI), a division of the National Institutes of Health (NIH).

Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome. However, the Clinical Genome Resources (ClinGen) expert panel has critically reevaluated the scientific evidence for all 17 reported genes, and has concluded at least nine of the genes cannot be linked to the disease, and only three of the genes can be definitively associated with the most common form of the disease.

Long QT syndrome is caused by mutations in genes that regulate the hearts electrical activity. These mutations can cause the heart to have sudden, irregular heart rhythms, or arrhythmias. People with long QT syndrome can have arrythmias that are both unprovoked or as a result of stress and exercise. These arrythmias can be fatal.

Many people with long QT syndrome may be unaware they have the condition, unless they get an unrelated electrocardiogram, know their family history, and have undergone genetic testing.

Ever since the syndrome was described in 1957, researchers have engaged in a genetic race to identify the genes associated with it, which currently includes the 17 genes. By using such a standardized, evidence-based framework, the international ClinGen panel experts on long QT syndrome were able to classify the 17 genes into specific groups.

Three genes, KCNQ1, KCNH2 and SCN5A, had sufficient evidence to be implicated as definitive genetic causes for typical long QT syndrome. Four other genes had strong or definitive evidence supporting their role in causing atypical forms of long QT syndrome, particularly if they presented in the newborn period with associated heart block, seizures or delays in development.

The remaining ten genes were deemed to not have sufficient evidence to support a causal role in the syndrome. In fact, nine of these 10 remaining genes were placed in the limited or disputed category. The study authors suggest that these genes not be routinely tested in clinical settings when evaluating patients and families with long QT syndrome, because they lack sufficient scientific evidence as a cause for the condition.

This removal of genes from the testing list impacts genetic testing providers, who use research papers to determine which genes to include in their testing panels for diagnostic reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design and strength of evidence to support their conclusions. Until recently, standard guidelines that can differentiate between genes found with strong and valid scientific approaches versus those with insufficient evidence did not exist. Clearly, this is a problematic approach, and led to several studies drawing early conclusions.

ClinGens expert panels include researchers, clinicians, and genetic counselors who apply an evidence-based framework in evaluating the available data from research papers to place gene-disease relationships into definitive, strong, moderate, limited, disputed, or refuted categories.

ClinGen is an impressive community effort. With over 1,000 researchers and clinicians from 30 countries volunteering their time and expertise, ClinGen is providing much needed clarity for the clinical genomics community regarding which gene-disease pairs have sufficient evidence to be used clinically, said Erin Ramos, Ph.D., project scientist for ClinGen and program director in the Division of Genomic Medicine at NHGRI.

Our study highlights the need to take a step back and to critically evaluate the level of evidence for all reported gene-disease associations, especially when applying genetic testing for diagnostic purposes in our patients. Testing genes with insufficient evidence to support disease causation only creates a risk of inappropriately interpreting the genetic information and leading to patient harm, says Michael Gollob, M.D., senior author of the paper and researcher at the Toronto General Hospital Research Institute.

Moreover, testing for genes not definitively associated with long QT syndrome can result in inappropriate and costly medical interventions such as implanting of a cardioverter-defibrillator.

This is not the first time a team at ClinGen has clarified published research for clinicians. The same team of researchers published a similar study in 2018, covering another heart condition called Brugada syndrome. In 2019, the American Society of Human Genetics considered the paper as one of the top 10 advances in genomic medicine.

ClinGen is an NHGRI-funded resource created to define the clinical relevance and validity of genes associated with various genetic disorders. It comprises more than 20 expert panels working on a variety of genetically influenced diseases, ensuring the reliability of gene-disease linkage. This work is also instrumental in determining which specific genes should be targeted for further study in precision medicine and research.

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Conceived through ‘fertility fraud,’ she now needs fertility treatment – West Central Tribune

I immediately called my mom and said, Mom, is it possible that I have random siblings out there somewhere?' said Woock, of Indianapolis. She recalled her mom responded, No, why? Thats ridiculous.

But the messages continued, and some of them mentioned an Indianapolis fertility practice that she knew her mom had consulted when she had trouble conceiving.

Woock researched and finally learned the truth. Dr. Donald Cline, the fertility doctor her mother saw in 1985, is her biological father.

I went through an identity crisis, she said. I couldnt look in the mirror and think about, Where did my eyes come from? Where did my hair color come from? I didnt even want to think about any of that.

A photo of Larry Hobson holding his daughter, Heather Woock, as an infant. Woocks mother consulted with a fertility doctor when she was having trouble getting pregnant. Leah Klafczynski for NPR

Woock hadnt known that her mom had used artificial insemination to conceive her, and neither of them knew the doctor had used his own sperm.

We now know Cline used his own sample and squirted it into my mom, Woock said.

In the 1970s and 80s, Cline deceived dozens of patients and used his sperm to impregnate them. He has more than 60 biological children and counting.

For Woock, as the story of her parentage sunk in, it was distressing for another reason: She wanted to start her own family and was having trouble conceiving. And now she needed to turn to the fertility industry that had so badly betrayed her mom.

We were doing all of the calendaring everything that is out there to help you get pregnant, we were doing that, Woock recalled.

But after six months, when she still wasnt pregnant at 32, she went to a fertility clinic for some tests.

I had to fill out all this paperwork, and theres a slot that says kind of like, Is there anything else youd like to share? Woock said.

Yes, there most certainly was.

New allegations of doctors using their own sperm keep coming to light because of genetic-testing services like Ancestry revealing networks of half siblings in states like Idaho, Ohio, Colorado and Arkansas.

But those doctors performed artificial inseminations decades ago. Could what happened to Woocks mom happen in a modern fertility clinic?

Dr. Bob Colver, a fertility specialist in Carmel, Ind., said its a question many of his patients have asked. But its unlikely, he said. These days, there are more people involved in the process, and in vitro fertilization happens in a lab, not an exam room.

Unless youre in a small clinic where theres absolutely no checks and balances, I cant even imagine that today, Colver said.

A 1985 photo of Kimberly Hobson, left, pregnant with her daughter, Heather. Kimberly is photographed alongside her husband, Larry Hobson, as well as relatives who were also expecting. Leah Klafczynski for NPR

Its now illegal in Indiana, Texas and California for a doctor to use his sperm to impregnate his patients. But theres no national law criminalizing whats called fertility fraud.

Fertility medicine has advanced a lot since the 1980s, but women trying to get pregnant today with the help of medicine face a baffling array of treatment options that can be hard to navigate and can be hugely expensive. And some critics say the growing, multibillion-dollar fertility industry needs more regulation.

For example, sperm banks may not get accurate medical histories from their donors, who could pass along genetic diseases. And theres no limit on how many times a donors sperm can be used, which some donor children worry could increase the chance of inbreeding. Sperm donation guidelines from organizations like the American Society for Reproductive Medicine are voluntary. There was a contestant on The Bachelorette last year who said his sperm had helped father more than 100 kids.

When Woock decided to get her first fertility treatment, she set preconditions with the clinic. She insisted on having a female doctor and insisted that a doctor be in the room for all appointments and oversee everything that happened.

Her experience with her clinic was very different from her mothers with Cline, but nonetheless there were surprises along the way.

The clinic told her that her problems conceiving could be because of husband Robs low sperm count and motility (meaning his sperm werent great swimmers). They advised a form of in vitro fertilization that involved injecting one sperm directly into one of her eggs in a petri dish.

When doctors told Woock she needed IVF, she felt pretty optimistic.

Im thinking going into this that our chances of success are 70, 75%, Woock said.

Fertility treatment can be really expensive, and patients may start treatment with unrealistic expectations. Thats because success rates are complicated, and some clinics use only the best numbers in their advertising.

For example, clinics can advertise high fertilization rates. But a 70% fertilization rate doesnt mean 70% of eggs turn into babies plenty can go wrong after the lab combines egg and sperm.

An exam table at Midwest Fertility Specialists, a fertility clinic in Carmel, Indiana. Lauren Bavis / WFYI

Success depends on your age, your clinic and the type of procedure you need. But most of the time, assisted reproduction procedures such as IVF dont work. The Centers for Disease Control and Prevention, which tracks assisted reproduction rates in the U.S., reports only about 24% of attempts result in a baby.

When Woock started her first IVF cycle, she gave herself shots, a couple a day, to stimulate her ovaries to get multiple eggs ready at once. Multiple eggs means more chances for fertilization.

But the drugs have side effects. They gave her headaches and made her moody and less patient.

I was actually allergic to one of the medications, which just means that you keep taking it and deal with the itching and rash, Woock said.

But she hung on until it was time for a doctor to surgically retrieve her eggs, at which point patients can face even more choices. Because the couples fertility problem appeared to be with Robs sperm, the clinic offered to use a special device to help pick the best sperm for IVF.

We were kind of like, Yeah, why wouldnt you?' Woock said. If its gonna give us a better chance, do it.

A device like that is called an add-on. Add-ons are often new technology, described as cutting-edge, which can appeal to patients. Examples of add-ons include genetic testing for chromosomal abnormalities in embryos which some specialists argue improves the odds of a live birth and assisted hatching and endometrial scratching, both methods claiming to facilitate implantation.

Jack Wilkinson, a biostatistician at the University of Manchester in England, researches add-ons, which he has found can increase costs and, he said, they may not work.

We quite often see theres no benefit at all, Wilkinson said. Or, possibly even worse, that theres a disadvantage of using that treatment.

Wilkinson said the device Woocks clinic offered could work, but the evidence supporting it is thin.

The clinic called Woock the morning after her egg retrieval. None of Woocks eggs fertilized. The procedure revealed that her husbands sperm quality wasnt the only fertility issue the couple faced.

They immediately saw that there was something wrong with my eggs, Woock said. My eggs are just total crap.

She underwent a second round of IVF with the same result no fertilization.

Getting that news the second time felt even more set in stone that this was going to be a very long, challenging road, Woock said.

Challenging and expensive. Most states, including Indiana, dont require insurers to cover fertility treatment. Without insurance, a round of IVF can cost more than $10,000 even more than $20,000 with no guarantee the patient will get pregnant.

Woock was lucky that her employer-provided insurance covered a lot. But it still wasnt cheap. She had to pay for some medications, plus, you have to pay lab and facility fees that insurance doesnt pay, Woock said.

Donor sperm and eggs arent generally covered, either. Those can be tens of thousands of dollars.

Woock faced a hard choice: After two failed attempts, did she want a kid enough to go through IVF again? She and her husband decided they did. So Woock did a third round of IVF. And then a fourth. When that didnt work, she gave up on using her own eggs.

What I expected as I was growing up and picturing my children is not what I will see, Woock said.

Woock and her husband decided to try donor eggs. If all goes according to plan, she could still carry a child. She wants to keep trying.

I realize that pregnancy is incredibly challenging on your body and your mental state, she said. If I can make it through a year of IVF, I can make it through morning sickness.

This story is part of a partnership that includes Side Effects Public Media, NPR and Kaiser Health News. The story was adapted from Episode 6 of the podcast Sick. You can hear more about the fallout from Dr. Donald Clines deception on Sicks first season, at sickpodcast.org.

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Conceived through 'fertility fraud,' she now needs fertility treatment - West Central Tribune

Natera takes ArcherDX to court over cancer testing patent – MedTech Dive

Dive Brief:

Genetic testing company Naterasaid Monday it filed a lawsuit alleging next generation sequencing assay maker ArcherDXs cell-free DNA-based oncology products infringe a Natera patent.

In a statement, San Carlos, California-based Natera claimed it has the exclusive rights to perform personalized monitoring and minimal residual disease (MRD) testing in oncological indications using its multiplex polymerase chain reaction (PCR) technology.

ArcherDX and Natera are both working in cancer care through the use of technologies such as PCR. Last year, ArcherDX raised $60 million to fund work to apply its technology to the assessment of MRD, thereby enabling physicians to detect the recurrence or progression of disease earlier and intervene accordingly.

Nateraasserts ArcherDXs work infringes on its patent. The patent, which was issued last week, covers "methods for simultaneously amplifying multiple nucleic acid regions of interest in one reaction volume."

Natera believes the patent gives it the exclusive rights to perform and license personalized monitoring and MRD testing in oncology using its patented multiplex PCR technology," andfiled a lawsuit against ArcherDX seeking injunctive relief and monetary damages. Natera filed the complaint in the District Court of Delaware.

The lawsuit is part of a broader, ongoing dispute over who has the right to use certain technologies that enable noninvasive testing. Natera is involved in some of the legal cases, both as a plaintiff and defendant.

Last year, CareDx filed a patent infringement lawsuit against Natera. The lawsuit accused Natera of infringing a patent covering the use of cell-free DNA analysis in the noninvasive monitoring of organ transplant rejection. CareDx went on to accuse Natera of making false and misleading advertising claims. Both sides claimed victory when a court considered whether to dismiss the advertising case.

Earlier this year, Natera hit back against CareDx, filing a lawsuit accusing its rival of infringing on one of its patents. That suit is focused on a patent covering cell-free DNA analysis in contexts including transplant patients.

The legal cases have played out against a backdrop of rising expectations for Natera. Over the past year, Nateras share price has risen more than 150% as the company has achieved double-digit sales growth.

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My ‘Tiredness’ Turned Out to Be a Genetic Condition That Raises Cancer Risk – msnNOW

Courtesy Jen B.

In 2012, Bev Michel found a large lump in her breast. This discovery started a medical odyssey that led to a cancer diagnosis and ultimately unraveled the mystery of a variety of health issues that had plagued her for more than eight years.

Following up on the lump with a mammogram and biopsy, Michel got the startling news that she had cancer. The West Chester, Pennsylvania resident immediately jumped into a chemotherapy regimen, undergoing six sessions of chemo and two lumpectomiesonly to find later after genetic testing that her type of cancer, lobular breast cancer, doesn't respond to chemotherapy. She then requested and underwent a double mastectomy, hoping to ensure the cancer was gone for good. But the cancer recurred in 2016near the nodes. So she again had surgery, this time to remove lymph nodes that she later learned were benign.

Michel felt there had to be more to her troubles, and she went to her general practitioner for guidance. "I told her how I was always tired, and how much my joints ached," Michel recalls. "She ran a couple of blood tests, and when she received the results she didn't believe them. She said my iron levels were sky-high, so she retested them. They were even higher." Michel's doctor diagnosed her with hemochromatosis, a metabolic disorder that leads to abnormally high iron levels in the body.

The mineral deposits itself into organs like the heart, liver, and pancreas, and in the joints; it can raise the risk of cancer and other diseases. A normal human absorbs about 8 to 10 percent of the iron they get from their diet; people with hemochromatosis absorb four times as much. The condition is inherited, and people with northern European ancestry have an elevated risk, according to the Genetics Home Reference. Experts estimate that 16 million Americans have elevated iron levels. Michel's diagnosis helped shed light on her family's medical history. "My mom died of breast cancer, had macular degeneration, and heart issueswhich are all signs of the disorder. When I had genetic testing, my results showed that both of my parents had the gene mutation, so of course, I would, too." (Here, doctors reveal the rarest conditions they've ever diagnosed.)

About one in 227 of people of Northern European descent have the condition, and about 10% of white people in the U.S. are carriers, according to National Organization for Rare Disorders. That means they have one copy of the gene mutation that causes hemochromatosis. You need to inherit two copies of the gene, one from each parent, to have the condition, although not everyone with both genes develops it. It's most often diagnosed in men after age 40 and in women after 60, in the postmenopausal years. While it's one of the most common genetic diseases in the U.S., it's less common in African Americans, and people who are of Hispanic, Asian, or Native American descent.

Michel was told she would need to donate blood every few weeks for the rest of her life, as giving blood regularly helps reduce iron levels. The prospect of this sent her to the internet to research other possible treatments. "What I found was that high iron is correlated to cancer, and I'm convinced it's what caused cancer for both my mom and me," she says."I found a doctor at the University of Maryland, Abulkalam M. Shamsuddin, MB, BS, PhD, who had studied the use of something called IP6 for treatment of cancer and iron overload." IP6 stands for inositol hexaphosphate: It's basically a carbohydrate substance that behaves like a vitamin, and it binds with extra iron in the body, explains Michael. "Once I began taking it, I haven't had a blood draw in two years, and my cancer has not recurred. My doctors are amazed."

Through her journey, Michel has found a passion for educating others about this relatively common yet underdiagnosed disorder. "I think there needs to be more open-mindedness among the medical community regarding treatments for conditions like this. Instead of treating only symptoms, look for the cause," she says.

If you have suspicious symptoms and you're not finding answers, Michel advises you be direct: "Ask to be tested for hemochromatosis. It's not an expensive test. If you have cancer, look for a possible correlation to your iron levels. If you test positive, then consider genetic testing for your children's sake. If you have it, they might, too."

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My 'Tiredness' Turned Out to Be a Genetic Condition That Raises Cancer Risk - msnNOW

5-year-old Maine girl with a rare disorder is only one of 19 in world who has it – NewsCenterMaine.com WCSH-WLBZ

PORTLAND, Maine Kenzie Dickinson is a 5-year-old spitfire. Her favorite things are animals, Minnie Mouse, the Spice Girls, and sports.

She loves baseball. She's a huge Slugger fan Kenzies parents Kevin and Cyndi Dickinson said.

She also loves to make people laugh.

She'll yank her sock off and stick it in her mouth and wait for you to notice and start laughing," Cyndi said.

When Kenzie turned one year old her parents thought something wasnt right. She wasnt hitting her milestones.

We went through a litany of what they thought it was which it wasnt, Rett Syndrome, Cerebral Palsy. They went through round after round trying to eliminate the possibilities until finally it was 'were coming up empty,' Kevin said.

Kenzies parents decided to try genetic testing. They both supplied DNA samples, including Kenzies and doctors were finally able to narrow it down.

"We've isolated this gene that doesn't have a name other than the name of the gene itself, Kevin said.

VPS13D disorder is so rare Kevin says, only 19 people in the world have it.

Because of the disorder, Kenzie has experienced growth delays. She can't walk and struggles with speech and seizures. She also suffers from several conditions, like Spasticity, Dystonia, and Chorea that cause her muscles to contract uncontrollably, leading to extreme tightness in her arms and legs and keeps her entire body in constant motion.

"Her arms are constantly moving so when she tries to do a task she has to really work at it to get it. And those constant movements have been burning calories off," Kevin said.

For two years Kenzie's weight stayed at 25 pounds, but thanks to a feeding tube she is now up to 32 pounds.

She also takes nine different medications and regularly sees a team of six specialists in Boston. Doctors who can provide few answers for Kenzie's parents.

"We don't have an idea of life expectancy. Life span, is it affected? We imagine it is," Kevin said.

Today though, Kenzie is making great strides. She attends Pre-K, can crawl, and is learning sign language.

Like most parents, Kenzie's mom and dad just want their youngest daughter to be happy and to be able to experience as much joy as she can.

"I love her the way she is and I just want to be able to provide for her the best life I can," Kevin said.

"I want her to be able to do as much as possible, get out as much as possible because we don't know," Cyndi said.

This family's priority, after all the hospital visits are done, is simply spending quality time together.

You will literally see her vibrating, her whole body is shaking, she just is so happy and excited," Kevin said.

And Kenzie is all about sharing that love.

Cyndi says, "you have to remind her that not everyone wants a hug because she'll try to hug strangers."

All the trips to Boston Children's Hospital have taken a toll on the family's car. It broke down last week.

As Kenzie continues to grow and gain weight the Dickinsons are hoping to be able to purchase a wheelchair accessible van to make their travels easier.

A fundraiser for Kenzie and her family is being held Friday, Jan. 31 at the Portland Elks Lodge to help raise money for the Dickinson Family. There will be a cash bar, appetizers, and music provided by DJ Jim Fahey. There is no cost to attend, however donations will be accepted at the door.

There is also a Go Fund Me page that has been set up for the family, which has raised $9,570 so far of their $50,000 goal.

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5-year-old Maine girl with a rare disorder is only one of 19 in world who has it - NewsCenterMaine.com WCSH-WLBZ

‘I still feel like it had something to do with THC vaping:’ UWM teen’s cause of death ‘undetermined’ – WTMJ-TV

A Walworth County family is looking for answers after the Milwaukee County Medical Examiner's Office ruled the death of 19-year-old Logan Tomasello as an "undetermined" cause.

Tomasello died on October 31st after vaping THC and nicotine, according to his family.

Toxicology reports found non-lethal amounts of THC and other substances in Logan's body but still could not find a cause of death.

"I just couldn't wrap my head around the fact that they had no clue how a healthy young man could just die," said Logan's mother Monica Tomasello.

Family suspect that some other compound was inside the vaping cartridge that Logan bought on the campus of the University of Wisconsin-Milwaukee.

Dr. Brian Peterson of the Milwaukee County Medical Examiner's Office told TODAY'S TMJ4 that undetermined deaths are very rare.

"We test exhaustively. We are frustrated by undetermined. If you look at last year's data of all the cases that we did, about 2% ended up in the undetermined category at the end of the day if we cant find anything we are thinking it's probably a natural death we just dont have a reason for it," said Peterson.

Logans family will now turn to genetic testing to see if something else could have caused his death.

Im worried about my daughter, I want to make sure she's protected she's safe. There has been no history of sudden cardiac death in either my ex-husbands family or myself ... if they do uncover something that was unknown, Id feel incredibly surprised but Id feel at least a little more comfortable knowing there was some reason behind all this, said Monica.

The family is also hoping to retrieve the vape cartridge from the Milwaukee Police Department to do their own testing on what was inside it.

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'I still feel like it had something to do with THC vaping:' UWM teen's cause of death 'undetermined' - WTMJ-TV

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