Translocation down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ Sat, 01 Oct 2022 23:11:11 +0000 en-US hourly 1 https://wordpress.org/?v=5.9.3 https://www.novascotiadownsyndromesociety.com/wp-content/uploads/2021/07/icon-2021-07-30T230350.091.png Translocation down syndrome – Nova Scotia Down Syndrome Society http://www.novascotiadownsyndromesociety.com/ 32 32 The Lowcountry Down Syndrome Society held its annual Buddy Walk https://www.novascotiadownsyndromesociety.com/the-lowcountry-down-syndrome-society-held-its-annual-buddy-walk/ Sat, 01 Oct 2022 22:48:00 +0000 https://www.novascotiadownsyndromesociety.com/the-lowcountry-down-syndrome-society-held-its-annual-buddy-walk/ SAVANNAH, Ga. (WTOC) — The Lowcountry Down Syndrome Society has held its annual Buddy Walk for 16 years. Although for the past two years it has been virtual due to COVID. On Saturday, the 17th annual Walk of Friends was back in person at Forsyth Park. Hundreds of people showed up for the Buddy Walk […]]]>

SAVANNAH, Ga. (WTOC) — The Lowcountry Down Syndrome Society has held its annual Buddy Walk for 16 years.

Although for the past two years it has been virtual due to COVID.

On Saturday, the 17th annual Walk of Friends was back in person at Forsyth Park. Hundreds of people showed up for the Buddy Walk which was a one-mile walk around Forsyth Park.

There was an entry fee of $15.00 and all proceeds will go to Camp Buddy, two summer camps in Effingham and Chatham counties that help kids stay active and maintain skills during summer holidays.

Event organizers say the walk is important to the community, not only to physically help people with Down syndrome, but to raise awareness of what it really is, and that those who have it don’t are not so different from the others.

“Down’s syndrome is a genetic condition, it’s a copy on your 21st chromosome pair. We can’t cure it, but what we can do is embrace it, love it and use the strength of it. to make us all better,” said President Joe Marchise.

“It’s a celebration of life for them. They live their lives every day, just like all of us, and they want a chance to overcome these challenges and overcome the obstacles that we throw at them. We can do anything,” said Walk buddy co-chair Candy Bogardus.

The event organizers also talked about the language people use around people with Down syndrome, they are trying to move away from the term ‘special needs’ and instead use ‘differently disabled’.

The Lowcountry Down Syndrome Society plans to hold another Buddy Walk next year.

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Congenital heart disease https://www.novascotiadownsyndromesociety.com/congenital-heart-disease/ Thu, 29 Sep 2022 09:34:18 +0000 https://www.novascotiadownsyndromesociety.com/congenital-heart-disease/ By Dr. Sarat Ku Sahoo, Department of Cardiac Sciences HOD, SUM ULTIMATE Congenital heart defects (CHD) are heart abnormalities present at birth that can affect how the heart works. Congenital heart disease is the most common birth defect, with an estimated prevalence of 8 in 1000 live births. These are the most common birth defects […]]]>

By Dr. Sarat Ku Sahoo, Department of Cardiac Sciences HOD, SUM ULTIMATE

Congenital heart defects (CHD) are heart abnormalities present at birth that can affect how the heart works. Congenital heart disease is the most common birth defect, with an estimated prevalence of 8 in 1000 live births. These are the most common birth defects responsible for a third of congenital birth defects. The number of children born with coronary heart disease in India is 2,40,000. 10% of infant mortality rate in India is due to coronary heart disease. These heart defects can affect the shape of the heart or how it works and can be simple or complex.

Congenital heart defects can affect the baby’s heart, including the heart walls, septum and heart valves, and can cause blood vessels to become malformed and affect the arteries. Some babies will have a combination of defects. It can also cause complex CHD – calculus of defects in heart valves, heart walls, and blood vessels. The presence of such heart defects in a child can impair blood flow, causing the child’s blowing flow to slow down or block, or cause it to flow in the wrong direction. It can also lead to the child’s blood not having enough to cover the body.

Some heart defects do not require treatment or can be treated easily. But others, like some critical CHDs, may require years of surgery. There are two types of CHDs. The first is cyanotic congenital heart disease. It is a form of critical congenital heart defect (CCHD) that reduces the amount of oxygen delivered to the baby’s body. It causes blue discoloration of the skin and the baby also experiences breathing difficulties. Cyanotic coronary artery disease is usually present at birth and due to complex heart defects affecting multiple heart structures, the baby would need immediate surgery after birth to correct this condition and improve blood flow to the lungs and rest. from the body.

The second type of congenital heart disease is acyanotic congenital heart disease. Acyanotic heart defects are congenital heart defects that affect the atrial or ventricular walls, heart valves, or large blood vessels. The condition is present at birth but may not cause any symptoms or problems until later in life. It causes a pinkish discoloration of the skin. A hole in the heart wall is a kind of acyanotic heart defect.

In some cases, symptoms of coronary heart disease will appear shortly after birth. Symptoms that present soon after birth are bluish lips, skin, fingertips and toes, shortness of breath, feeding difficulties, low birth weight, chest pain, growth failure and large clubbed or rounded fingers. In other cases, symptoms appear many years after birth. Symptoms can be abnormal heartbeat, dizziness, shortness of breath, fainting, swollen feet, and fatigue, to name a few.

Causes of Coronary Artery Disease

Coronary artery disease occurs due to a developmental problem in the structure of the heart. The causes can be:

  1. Some babies have heart defects due to changes in their chromosomes or genes. Certain genetic changes (also called mutations) are linked to heart defects. Genetic factors can run in the family. Certain genetic syndromes are associated with coronary artery disease. For example, Down syndrome and Turner syndrome.
  1. Taking certain medications during pregnancy
  2. Drinking alcohol during pregnancy or smoking before or during pregnancy
  3. Exposure to toxic chemicals
  4. Viral infection of the mother during the first trimester of pregnancy
  5. Maternal diabetes mellitus.

Advances in pediatric cardiology and cardiac surgery have made it possible to repair or palliate most coronary artery diseases, including the most complex ones. If access to screening, early diagnosis and treatment is available, more than 90% of patients born with coronary artery disease survive to adulthood with good long-term outcomes.

Treatment for congenital heart defects in children depends on the specific type of heart problem and its severity. Treatment may involve medications, heart procedures or surgeries, or heart transplantation. Medications may be given to treat symptoms or complications of a congenital heart defect. Some babies have mild abnormalities that heal on their own over time. A small ventricular septal defect (VSD) or small atrial septal defect (ASD) can often be left alone, but larger ones may require heart surgery or surgery to close them.

Serious congenital heart defects require treatment soon after diagnosis. Cardiac procedures and surgeries performed to treat congenital heart defects include:

Catheter Procedure (Percutaneous Cardiac Intervention) – This is a safe method and is performed by making small holes in the arteries and veins without surgically opening up the chest and heart. The procedure is done by inserting a small tube into the heart through the arteries or veins. When there is a hole inside the heart (ASD, VSD, PDA), it can be closed with umbrella-shaped devices that are dislodged through the defect. This procedure leaves no scars on the breast. It has a shorter hospitalization period and the patient can return to normal activities within 2-3 days. Most holes inside the heart can be closed by this method.

When a valve is blocked, it can be opened by inflating a balloon over the valve using procedures such as aortic valvotomy and pulmonary valvotomy. When the heart vessels are blocked, it can be opened by putting stents like coarctation aorta stenting and pulmonary artery stenting.

Most acyanotic coronary heart disease can be treated with this catheter procedure without open-heart surgery. Few cyanotic coronary diseases can be treated with catheter procedures to make the patient fit for open heart surgery.

Open heart surgery is done when a catheter procedure is not enough to repair a congenital heart defect. Open-heart surgery is performed in cases of complex coronary artery disease, in fact cyanotic coronary artery disease. If a serious heart defect cannot be repaired, a heart transplant may be needed. Implantable cardiac devices like pacemakers and implantable cardioverter defibrillators are also an option for treating coronary heart disease.

As we know little about the causes of congenital heart disease, the emphasis is on prevention. Women who are pregnant or planning to become pregnant can take certain precautions to reduce the risk of giving birth to a baby with coronary artery disease.

  • Avoid taking medication without consulting a doctor
  • Control your blood sugar.
  • Get vaccinated against rubella or German measles
  • If you have a family history of coronary artery disease, get genetic testing.
  • Avoid the consumption of alcohol and illegal drugs during pregnancy.

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Cleveland Clinic doctors see increase in POTS in pediatric patients after COVID https://www.novascotiadownsyndromesociety.com/cleveland-clinic-doctors-see-increase-in-pots-in-pediatric-patients-after-covid/ Tue, 27 Sep 2022 15:27:52 +0000 https://www.novascotiadownsyndromesociety.com/cleveland-clinic-doctors-see-increase-in-pots-in-pediatric-patients-after-covid/ CLEVELAND — Eva LaBeau, 16, loves hanging out with her friends and is passionate about art. “All art, music, painting, drawing, macrame. Anything I can get my hands on since I can’t do the physical things,” LaBeau explained. The high schooler was involved in gymnastics until, “when I was a gymnast, one time I passed […]]]>

CLEVELAND — Eva LaBeau, 16, loves hanging out with her friends and is passionate about art.

“All art, music, painting, drawing, macrame. Anything I can get my hands on since I can’t do the physical things,” LaBeau explained.

The high schooler was involved in gymnastics until, “when I was a gymnast, one time I passed out on the bar,” LaBeau said.

The Michigan teenager went to the clinic in Cleveland for help in finding answers to her health issues. Doctors discovered a genetic condition and Postural Orthostatic Tachycardia Syndrome or POTS.

“It’s all going to get dark, and I feel really, really dizzy and I can feel my heart beating too fast,” LaBeau said.

Postural orthostatic tachycardia syndrome is a lot of words, but it means there’s an uncontrollable effect on the heart in response to trying to regulate blood pressure so the brain can function properly, said the Dr. Gary Butchko, Cleveland Clinic pediatric cardiologist.

Getting COVID-19 made LaBeau’s POTS symptoms worse. Now doctors are seeing more cases of POTS in children and teens who have had COVID-19.

“There’s definitely been a slight uptick,” Butchko said. Butchko said between 30 and 40 percent of his patients have some of the symptoms of POTS.

For LaBeau, getting a diagnosis was key to managing her condition and living the life of a normal teenager.

This article was written by Tracy Carloss for WEWS.

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Governor’s underdogs say abortion problem, rising voter numbers will help them https://www.novascotiadownsyndromesociety.com/governors-underdogs-say-abortion-problem-rising-voter-numbers-will-help-them/ Sun, 25 Sep 2022 05:00:00 +0000 https://www.novascotiadownsyndromesociety.com/governors-underdogs-say-abortion-problem-rising-voter-numbers-will-help-them/ OKLAHOMA CITY — Two outsiders hoping to become governors believe rolling back abortion restrictions and increasing voter numbers will help them at the polls. Former Republican Senator Ervin Yen became an independent. Natalie Bruno introduces herself as a Libertarian. They will face Republican Gov. Kevin Stitt and State Superintendent Joy Hofmeister, who switched from Republican […]]]>

OKLAHOMA CITY — Two outsiders hoping to become governors believe rolling back abortion restrictions and increasing voter numbers will help them at the polls.

Former Republican Senator Ervin Yen became an independent. Natalie Bruno introduces herself as a Libertarian.

They will face Republican Gov. Kevin Stitt and State Superintendent Joy Hofmeister, who switched from Republican to Democrat, in the Nov. 8 ballot.

“I’m saying this year is going to be dramatically different because of Roe v. Wade being overturned,” Yen said. “I think there will be a lot of Democrats showing up to vote who don’t normally vote – and a lot of independents, especially when I’m on the ballot.”

Bruno said she was probably the most pro-choice candidate on the ballot.

She said this election would be very different from 2018. She said the state would see an influx of female voters and young voters who support abortion rights.

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Bruno needs 2.5% in statewide elections to expand ballot access to libertarians for another four years.

“I think I’m going to have a record percentage when it comes to the gubernatorial race,” she said.

On January 15, 2018, the state had just 4,897 Libertarians, a figure that rose to 17,981 five years later.

The number of people registered as self-employed rose to 381,088 on January 15, 2022, from 298,867 five years earlier.

Bruno points out that Yen has changed his position on abortion.

In 2017, Yen reportedly said, “Here is what I say as a Republican, as a Catholic, as a pro-life person. If you want to go to Washington, DC, and try to overturn Roe v. Wade, I’ll go with you.

“If you want to protest outside an abortion clinic, I think that’s fine as long as you don’t interfere with the clinic’s ability to do something that is currently legal. But passing unconstitutional bills, in my opinion, is just plain stupid.

He made the statement after deciding not to hear a bill that would ban abortions of fetuses diagnosed with Down syndrome or other “viable genetic disorders” or the possibility of one, saying it was unconstitutional. .

Since the U.S. Supreme Court said earlier this year that states must decide the issue, Yen has changed its position.

Yen said it’s not her job to say a woman can’t do something with her body.

“How can I decide that,” he said. “I don’t have a uterus.”

He also doesn’t believe that life begins at conception because a fertilized egg has no brain activity.

He said that if the legislature did not change course on the issue, he would seek to put it to a vote of the people. Oklahoma lawmakers have banned abortion.

Bruno would focus on better quality sex education and more empowerment of men to make better choices.

“Government has no place in health care choices, period,” she said. “We don’t have the right to choose when we want medical freedom, that is vaccines, and when we don’t. And whether you like it or not, as long as a baby is in a woman’s body, it’s her healthcare choice.

Hofmeister said she was personally pro-life but did not favor extremes on either side of abortion access. She believes it’s a health care decision between a woman and her doctor.

Stitt said he would sign any pro-life bill that landed on his desk.

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Rommy Hunt Revson, who popularized the scrunchie, dies at 78 https://www.novascotiadownsyndromesociety.com/rommy-hunt-revson-who-popularized-the-scrunchie-dies-at-78/ Mon, 19 Sep 2022 17:48:14 +0000 https://www.novascotiadownsyndromesociety.com/rommy-hunt-revson-who-popularized-the-scrunchie-dies-at-78/ Rommy Hunt Revson, a struggling New York singer who made her fortune creating the scrunchie, one of the most ubiquitous hair accessories ever invented, died Sept. 7 in Rochester, Minnesota. She was 78 years old. The cause was a ruptured aorta, said Alan Rothfeld, the attorney for Ms Revson’s estate. He said Ms Revson, who […]]]>

Rommy Hunt Revson, a struggling New York singer who made her fortune creating the scrunchie, one of the most ubiquitous hair accessories ever invented, died Sept. 7 in Rochester, Minnesota. She was 78 years old.

The cause was a ruptured aorta, said Alan Rothfeld, the attorney for Ms Revson’s estate. He said Ms Revson, who had been in poor health for years, died while undergoing tests and treatment at the Mayo Clinic in Rochester for the hormonal disorder Cushing’s syndrome and Ehlers syndrome. -Danlos, genetic disorders related to the connective tissues of the body.

Ms Revson, who first tried a singing career in Manhattan’s Greenwich Village, created the fabric hair tie in 1986 out of necessity, needing to gently tie her fraying hair.

Recently divorced from Revlon cosmetics heir John Revson, she was unemployed and suffered from hair breakage from a particularly damaging bleach job.

“I was so stressed that my hair was thinning,” Ms Revson told The Washington Post in 1995.

Inspired by the fabric and elastic waistband of her pajama pants, she decided to mimic the design of her hair. She would cover a fabric elastic and use it to hold her hair in place, either in a bun or a ponytail, without damaging her hair.

“I don’t know why, but I became somewhat determined to find an invention that used fabric instead of plastic for hair,” Revson told the Arkansas Talk Business & Politics website in 2016. My friends tried to get me to put it down and go to the beach with them as summer was about to end, but something told me to keep working on this hair accessory.

With a used $50 sewing machine, she made the first prototype — an “ugly” black and gold scrunchie with navy blue thread, she said.

In 1987 Ms Revson patented her design, and after a marketing campaign that saw fashion retailers such as Macy’s and Bloomingdale’s place large orders for the product, the hair accessory caught on. Consumers seemed to admire it for fashion and function. Copycat retailers were soon selling their own versions of the product. (Some accounts say a man named Philip Meyers invented the scrunchie in 1963, but it didn’t find a market.)

Thanks to Ms. Revson, the ruffled elastic has adorned the heads of millions of women, including Hillary Clinton, Ruth Bader Ginsburg, Madonna and Britney Spears. This had been discussed in episodes of “Seinfield” “Friends” and “Sex and the City” – and even traveled to space, after American astronaut Pamela Melroy wore a a navy blue to the International Space Station in 2000 and 2002.

“The scrunchie was the most popular hair accessory in the world,” said Lewis Hendler, whose company, L&N Sales and Marketing, was the exclusive licensee of the product from 1989 to 2001, when Ms Revson’s patent expired. During that time, Mr. Hendler’s company paid Ms. Revson about $1 million in royalties a year.

The scrunchie, which originally sold for $1 as a single hair accessory, now sells in multipacks and in every color, pattern and fabric imaginable – velvet, leather, silk, lace, fur, encrusted with pearls. (Upscale retailers, such as Balenciaga, market their versions for $250.)

Ms Revson predicted the accessory’s ubiquity early on, and has spent much of her life arguing – most often in court – for the ruffled hair tie.

“I thought I’d be a bag lady in 10 years saying, ‘Hey, I made those up,'” Ms Revson told The Post in 1995.

Rommy Kolb was born in White Plains, NY on February 15, 1944. As a young woman, she was a singer, songwriter, and piano teacher, and she also performed in Manhattan nightclubs as Rommy Hunter.

Reviewing her 1979 performance at Reno Sweeney, a Greenwich Village cabaret, New York Times music critic John S. Wilson complimented the “fine sense of shading,” adding that she “projects strongly and at different levels” as a performer. She once opened for Frank Sinatra, but the performer lifestyle soon faded, a family member told the Palm Beach Post, and Ms. Revson stopped singing.

According to businessman and designer Leathem Stearn, Ms. Revson sought out Stearn at a party in Manhattan in 1986 to enlist his help in turning the darling idea into a profitable business. Stearn said he helped her improve the design of the hair piece.

Smuggling was rampant because Ms. Revson’s patent was difficult to enforce, said Hendler of L&N Sales and Marketing. First, because it was poorly illustrated, he said, and second, because design patents only protect the appearance of products, not their function, which is the work of utility patents. .

To fight smuggling, his team opted to persuade major retailers to buy scrunchies from them rather than seek legal damages. It worked. Soon most major retailers were buying Hendler company darlings and Ms. Revson was raking in millions of dollars in royalties.

But Hendler said Ms Revson became dissatisfied with that strategy and was persuaded by other advisers to seek damages from retailers – so she took her own licensee to court. She found herself embroiled in litigation and arbitration with Hendler’s company until her patent expired in 2001, after which anyone could legally make a scrunchie.

His four marriages ended in divorce. Survivors include a son, Nathaniel Hunt of New York.

In 1997, Ms. Revson moved to Wellington, Florida. She rode, cooked and entertained for a large circle of friends – often wearing a scrunchie in her hair or on her wrist, and making sure her guests left with one too.

“She always gave them as table favors when she had lunch or dinner,” Kathleen Stallone, a friend of Ms. Revson, told the Palm Beach Post. “You always knew you were going to have a darling.”

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FDA updates for the week of September 12, 2022 https://www.novascotiadownsyndromesociety.com/fda-updates-for-the-week-of-september-12-2022/ Sat, 17 Sep 2022 13:01:03 +0000 https://www.novascotiadownsyndromesociety.com/fda-updates-for-the-week-of-september-12-2022/ The FDA has approved new therapies for psoriasis and kidney dysfunction. The agency also scheduled a non-prescription birth control advisory committee meeting and accepted requests for long-acting aripiprazole, the drug for Rett syndrome and enzyme replacement therapy. Additionally, Clovis submitted additional claims for Rubraca. FDA approves top treatment for psoriasis. The FDA has approved Sotyktu […]]]>

The FDA has approved new therapies for psoriasis and kidney dysfunction. The agency also scheduled a non-prescription birth control advisory committee meeting and accepted requests for long-acting aripiprazole, the drug for Rett syndrome and enzyme replacement therapy. Additionally, Clovis submitted additional claims for Rubraca.

FDA approves top treatment for psoriasis.

The FDA has approved Sotyktu (deucravacitinib) to treat adults with moderate to severe plaque psoriasis. Developed by Bristol Myers Squibb, Sotyktu is an allosteric oral tyrosine kinase 2 (TYK2) inhibitor. This is the first global approval of a TYK2 inhibitor.

The approval is based on the results of the pivotal phase 3 clinical trials POETYK PSO-1 and POETYK PSO-2. Trials demonstrated superior efficacy of Sotyktu once daily compared to placebo and Amgen’s Otezla (apremilast) twice daily in 1,684 patients aged 18 years and older with moderate to severe plaque psoriasis . Responses with Sotyktu persisted for 52 weeks.

FDA approves Terlivaz for kidney dysfunction syndrome.

The FDA has approved Mallinckrodt’s Terlivaz (terlipressin). Terlivaz is the first treatment approved to improve kidney function in patients with hepatorenal syndrome (HRS), a rare form of kidney dysfunction. An injection, Terlivaz is approved for adults who have rapidly declining kidney function, which is an acute and life-threatening condition requiring hospitalization.

Hepatorenal syndrome is characterized by a progressive deterioration of kidney function in people with advanced liver disease. This is more common in people with advanced cirrhosis and ascites, an abnormal buildup of fluid in the abdomen that is often linked to liver disease. The prognosis is very bad. Hepatorenal syndrome involving a rapid reduction in kidney function is estimated to affect between 30,000 and 40,000 Americans each year. The only cure is a liver transplant.

The FDA is holding a non-prescription birth control advisory committee meeting.

The FDA has scheduled a joint meeting of the Over-the-Counter Drug Advisory Committee (NDAC) and the Obstetrical, Reproductive, and Urological Drug Advisory Committee (ORUDAC) on November 18, 2022, to review Perrigo’s application for the daily oral contraceptive. Opill for over-use at the counter.

Opill is a progestin-only daily contraceptive pill, also called a mini-pill or a non-estrogen pill. Although progestin-only birth control pills may still increase your risk of blood clots and strokes, they are generally considered safer for some women, including those who smoke, have high blood pressure, or those at risk for blood clots.

HRA Pharma, a Perrigo company, submitted its application in July 2022.

FDA accepts NDA for long-acting aripiprazole.

The FDA has accepted Otsuka/Lundbeck New Drug Application (NDA) for aripiprazole for the treatment of schizophrenia in adults and for the maintenance monotherapy treatment of bipolar I disorder in adults. The FDA target date for completion of the review is April 27, 2023.

The therapy is a long-acting drug intended to be administered every two months by intramuscular injection. If approved, it will be available in 960 mg and 720 mg prefilled syringes. It will deliver sustained plasma concentrations similar to those demonstrated in studies with once-monthly long-acting injection aripiprazole. It is intended for populations in the form of Abilify Maintena (aripiprazole) once a month.

The NDA is supported by a 32-week bridging trial in which aripiprazole at two months showed comparable efficacy and a consistent safety profile to aripiprazole at one month. The 960 mg dose of aripiprazole over two months met criteria for the primary endpoint establishing similarity in plasma concentrations of aripiprazole and therefore comparable efficacy to once monthly aripiprazole 400 mg over a range of two month dosage. The treatment was generally safe and well tolerated and patients showed no new safety issues compared to aripiprazole 400 mg once monthly.

FDA accepts NDA for Rett syndrome drug.

The FDA has accepted New Drug Application (NDA) from Acadia Pharmaceuticals for trofinetide to treat patients with Rett syndrome. The FDA granted priority review and assigned an action date to the Prescription Drug User Fee Act of March 12, 2023.

Rett syndrome is a neurodevelopmental disorder that primarily affects girls and is caused by X chromosome mutations in a gene called MECP2. Children experience normal early growth followed by a slowdown in development. Gradually, mental and physical symptoms appear, leading to a gradual loss of motor skills and the ability to communicate. The incidence in the United States is one in 10,000 girls.

The FDA accepts the BLA for an ultra-rare enzyme disorder.

The FDA has accepted the Biologics License Application (BLA) and granted priority review designation for velmanase alfa, an enzyme replacement therapy for alpha-mannosidosis, a rare genetic disease characterized by an inability to properly break down complex sugars in the cells of the body. It is caused by mutations in the MAN2B1 gene.

Developed by Chiesi Global Rare Diseases, a business unit of Chiesi Farmaceutici, velmanase alfa is a recombinant form of human alpha-mannosidase intended to complement the natural enzyme. The accumulation of sugars can affect many organs and systems, including the central nervous system. The effects of the disease vary and progress over time, and symptoms may include recurrent chest and ear infections, hearing loss, distinctive facial features, muscle weakness, skeletal and joint abnormalities, visual abnormalities or cognitive abnormalities. The prevalence of alpha-mannosidosis is estimated at 1 in 500,000 people.

The FDA has set an action date for the first half of 2023 under the Prescription Drug User Fee Act.

Clovis submits additional applications for Rubraca for advanced ovarian cancer.

Clovis Oncology has submitted a supplemental new drug application (sNDA) to the FDA and a Type II variation to the European Medicines Agency (EMA) for approval of Rubraca (rucaparib) as first-line maintenance treatment for women patients with advanced ovarian cancer, regardless of biomarker status.

Submissions are based on positive data from the monotherapy analysis of the Phase 3 ATHENA trial. These data demonstrated that Rubraca as first-line maintenance therapy significantly improved investigator-assessed progression-free survival (PFS) compared to placebo in women with advanced ovarian cancer, regardless of biomarker status.

The FDA recommended that the company await more mature overall survival data from ATHENA-MONO before submitting the sNDA. Without overall survival data, the sNDA may need to be discussed at an Oncology Drug Advisory Committee (ODAC) meeting.

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Corticobasal syndrome (CCS): causes, symptoms, treatment https://www.novascotiadownsyndromesociety.com/corticobasal-syndrome-ccs-causes-symptoms-treatment/ Thu, 15 Sep 2022 22:26:25 +0000 https://www.novascotiadownsyndromesociety.com/corticobasal-syndrome-ccs-causes-symptoms-treatment/ Corticobasal syndrome (CBS) is a rare condition that primarily affects your movements. It can also gradually worsen your speech, memory, and swallowing. CBS is a form of atypical parkinsonism, also called Parkinson’s plus syndrome. This means that it shares some similarities with Parkinson’s disease. However, these two conditions have different causes and disease progression. Some […]]]>

Corticobasal syndrome (CBS) is a rare condition that primarily affects your movements. It can also gradually worsen your speech, memory, and swallowing.

CBS is a form of atypical parkinsonism, also called Parkinson’s plus syndrome. This means that it shares some similarities with Parkinson’s disease. However, these two conditions have different causes and disease progression.

Some common characteristics between CBS and Parkinson’s disease are:

Corticobasal degeneration (CBD) causes CBS. CBD is the gradual damage and death of brain cells (neurons) caused by the buildup of a toxic protein called tau.

Doctors and patients often use the terms corticobasal syndrome and corticobasal degeneration interchangeably. However, it is better to distinguish them. A doctor can only confirm CBD after death during an autopsy, when they can diagnose CBS based on typical symptoms.

This article will take a closer look at CBS and CBD, including the causes, diagnosis, treatment, and outlook for people with these conditions.

In CBS, like other neurodegenerative diseases, your brain deteriorates over time due to a buildup of a misfolded protein. Researchers believe the protein involved in CBS – tau – normally works to stabilize the cell skeleton of your neurons. However, they do not yet know its exact function.

In people with CBS, tau is badly folded, causing it to build up, eventually damaging and killing your neurons. Why tau is misfolded in some people is unclear. It could be linked to environmental changes and aging.

CBS usually occurs randomly and is therefore not inherited. In very rare cases, CBS can run in families. This indicates a potential genetic link.

CBS symptoms and their progression vary widely from person to person. The first signs and symptoms of CTS are usually Related altered movement of your extremities:

  • muscle stiffness or stiffness
  • bradykinesia
  • tremors
  • apraxia or inability to make deliberate movements such as buttoning a shirt or combing hair
  • alien hand syndrome, when one of your hands acts on its own “free will”

As your disease progresses, you may also experience the following:

  • loss of feeling in one or more areas of your body
  • sudden spasms leading to uncontrolled movements (myoclonus and dystonia)
  • balance problems
  • slurred speech (dysarthria)
  • difficulty understanding or verbally expressing your thoughts (aphasia)
  • difficulty saying what you want to say despite knowing the right words (apraxia of speech)
  • difficulty swallowing (dysphagia)

In the CBS Final Stages, you may encounter the following:

A doctor can only confirm CBD after death during an autopsy. However, a doctor can diagnose CBS based on its typical clinical features.

Even so, the diagnosis of CBS is difficult. Doctors might confuse it with similar disorders, such as Alzheimer’s disease or progressive supranuclear palsy.

There are no specific tests to diagnose CBS. Still, your doctor may order CT scans or MRIs to rule out other conditions. Researchers are currently studying whether positron emission tomography (PET) or single photon emission tomography (SPECT) can help identify characteristics of CBD.

No treatment can slow or reverse the progression of CTS. However, certain medications can help manage symptoms.

  • Levodopa and baclofen can help control muscle stiffness.
  • Clonazepam can relieve muscle spasms.
  • Botox injections can relieve pain.
  • Cholinesterase inhibitors (donepezil, rivastigmine, and galantamine) can help manage memory problems.

The following therapies may also help manage the symptoms of CBS:

Navigating neurodegenerative diseases such as CTS is a very difficult task. It can take years to arrive at a correct diagnosis. When doctors diagnose CTS, many people (and their families) experience a range of grief-related emotions.

Here’s what you can do to help a loved one with CTS:

  • Give them a safe space to help them process their emotions.
  • Learn as much as possible about CBS and CBD and how to provide care.
  • Acknowledge that CBS affects their abilities. Have realistic expectations for their daily tasks.
  • Be patient and treat them with dignity and respect.
  • Explore treatment options together.
  • Recognize that caregiving can affect your own physical and mental health.
  • Look for support groups and other organizations that can help you. For instance, CurePSP is one of the largest support networks for CTS patients and their caregivers.
  • Plan for the future.

Because there is no treatment for CBS, it will eventually lead to serious complications. For example, difficulty swallowing can cause choking or inhaling food or liquids into the airways. This can cause pneumonia, a life-threatening complication.

Because of these complications, people with CTS live on average 6 to 8 years old from the onset of symptoms.

However, your situation may be different. Be sure to ask a doctor about your specific outlook.

CBS is a rare neurodegenerative disease that progressively deteriorates your physical and cognitive functions. The buildup of a toxic protein in your brain cells called tau causes CBS.

CBS is very difficult to diagnose because no specific test can identify this condition. There is no treatment for this condition, but certain medications and other therapies can help you manage its symptoms. Research into new therapies and diagnostic methods is ongoing, giving hope to people with this condition and their caregivers.

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New Study Reveals Safety of Controversial 3-Parent Embryo Technique: ScienceAlert https://www.novascotiadownsyndromesociety.com/new-study-reveals-safety-of-controversial-3-parent-embryo-technique-sciencealert/ Sat, 10 Sep 2022 00:02:50 +0000 https://www.novascotiadownsyndromesociety.com/new-study-reveals-safety-of-controversial-3-parent-embryo-technique-sciencealert/ When a baby is born with three biological parents in 2016, there were concerns about the ethics and safety of the procedure. During the experimental procedure, the mother’s nuclear DNA was transplanted in a donor egg with its own nuclear DNA removed. Doctors then fertilized the donor egg with the transplanted nuclear DNA using the […]]]>

When a baby is born with three biological parents in 2016, there were concerns about the ethics and safety of the procedure.

During the experimental procedure, the mother’s nuclear DNA was transplanted in a donor egg with its own nuclear DNA removed. Doctors then fertilized the donor egg with the transplanted nuclear DNA using the husband’s sperm.

This procedure was intended to prevent the child from inheriting a rare neurological condition called Leigh syndrome, which can be passed down through maternal mitochondria.

The worry was that the traces of maternal mitochondria extracted during the spindle transfer would multiply, creating health problems for the child.

spindle transfer involved extract the spindle-shaped set of chromosomes containing the mother’s nuclear DNA from an egg.

However, a study looking at the effect of this procedure on the genetics of individual cells five days after fertilization found that they were no different from a control group, suggesting that the procedure does not affect development. embryonic in its infancy.

The researchers used a single-cell triple omics sequencing method to examine the genome, DNA methylome and transcriptome to dozens of cells at the stage of blastocyst development.

“Our results suggest that spindle transfer appears to be generally safe for embryonic development, with a relatively minor delay in the DNA demethylation process at the blastocyst stage,” the authors explain. report.

“Mitochondrial replacement therapy is a controversial area”, said Study co-author Wei Shang, an obstetrician and gynecologist at Chinese PLA General Hospital in Beijing. “Through our research, we hope to provide a basis for the development of the technique.”

Dietrich Egli, a stem cell biologist at Columbia University, said Nature the study was “unique and fabulous” because of its high quality data.

“It’s the first [study] who performed such a comprehensive comparison of human embryos created by spindle transfer,” he said. said.

The location of the nucleus and mitochondria in a human cell. (Eranicle/Getty Images)

The first child conceived using donor mitochondria and the spindle transfer method in 2016 had no health problems seven months after birthbut the long-term effects are not yet known.

“Maternal mitochondria and nucleus coexist for a long time, so maybe the nucleus may prefer cells with maternal mitochondria,” said Min Jiang, a mitochondrial biologist at Westlake University in Hangzhou, China. said.

“So far, studies show that spindle transfer works. But the long-term health of children born with the therapy will need to be studied with clinical trials,” she said. said.

In the case of 2016, less than 5 percent of maternal mitochondrial DNA containing the pathological variant was transferred. Current techniques can reduce that to 2%.

The UK and Australian governments have legalized the donation of mitochondria to prevent serious hereditary genetic diseases. But it’s still banned in the United States and its legality is uncertain in China.

Leigh’s syndrome is one of the rare diseases caused by pathological variants in maternal mitochondria affecting up to 1 in 5,000 children.

Children with Leigh Syndrome do not survive beyond the age of two or three years. They lose their mental, movement and swallowing abilities, and experience difficulty breathing, vomiting, diarrhea and stunted growth.

Most of the DNA in human embryos comes from the nucleus inside the human egg and sperm. But the mitochondria, which are the powerhouses of the cell, also contain DNA. There are until 25,000 genes in the core and just 37 genes in the mitochondria.

Sperm contains mitochondrial DNA, but it is destroyed in the process of fertilizationand therefore only the mother’s mitochondria are left to replicate.

This article was published in PLOS Biology.

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Planned Parenthood Arizona joins others in reviving abortions https://www.novascotiadownsyndromesociety.com/planned-parenthood-arizona-joins-others-in-reviving-abortions/ Fri, 02 Sep 2022 22:13:14 +0000 https://www.novascotiadownsyndromesociety.com/planned-parenthood-arizona-joins-others-in-reviving-abortions/ PHOENIX — Planned Parenthood Arizona joined several other providers who have restarted abortion care in the state — though only temporarily — after clinics stopped providing service when the U.S. Supreme Court ruled that women had no constitutional right to terminate a pregnancy. The organization for years performed the most abortions in the state, but […]]]>

PHOENIX — Planned Parenthood Arizona joined several other providers who have restarted abortion care in the state — though only temporarily — after clinics stopped providing service when the U.S. Supreme Court ruled that women had no constitutional right to terminate a pregnancy.

The organization for years performed the most abortions in the state, but ended the practice after the High Court overturned Roe v. Wade on June 24.

Planned Parenthood and other providers shut down due to legal uncertainty surrounding a pre-state law banning nearly all abortions and a ‘personhood’ law they feared could be used to sue doctors and the nurses who provided this care.

A federal judge blocked the personality law on July 11 after abortion rights groups filed a lawsuit, claiming it was unconstitutionally vague. That prompted some providers to restart services, including two clinics in Phoenix and one in Tucson. Some offer the abortion pill, others offer both the pill and surgical abortions.

Separately, a state judge in Tucson considered the attorney general’s request to lift an injunction barring pre-state law enforcement. Attorney General Mark Brnovich had announced the law was enforceable after the Supreme Court ruling, but later acknowledged the injunction remained in place.

Planned Parenthood Arizona this week began providing both medication and surgical abortions at its Tucson clinic, one of four in the state where it offered abortions. These four and three others managed by the group have never interrupted other care, such as pap smears, contraception and other reproductive services. Planned Parenthood plans to begin offering vasectomies in the fall.

Brittany Fonteno, president and CEO of Planned Parenthood Arizona, said the decision to open just one abortion clinic was because staff were willing to take a risk and start providing services that some Republicans consider it illegal.

“We have suppliers who, even with this bit of legal clarity that we’ve been able to get over the past two weeks, are still not comfortable,” Fonteno said on Friday. “So we chose Tucson because that’s where we had providers who felt comfortable picking up abortion care.”

Other Planned Parenthood clinics may restart abortion care in the coming weeks, she said.

A Tucson judge heard arguments Aug. 19 on Republican Attorney General Mark Brnovich’s request to lift the 1973 injunction blocking enforcement of the state law banning nearly all abortions. She said she would rule on or after September 20. Brnovich said the only reason the law was blocked was the Roe v. Wade.

Planned Parenthood and its Arizona affiliate told Pima County Superior Court Judge Kellie Johnson that she should only allow enforcement against people who are not physicians so that other abortion restrictions the Legislature has enacted since Roe remain relevant.

The court battles in Arizona are just two of many battles unfolding in predominantly Republican states across the country following Roe’s overturning by the conservative Supreme Court majority. There are legal battles over whether abortion bans — either those that predate Roe or those passed to trigger bans in the event Roe is overturned — can be enforced.

Currently, 12 states prohibit abortion at any time during pregnancy, and two more do so when fetal heart activity can be detected – usually around six weeks gestational age and often before women realize they are pregnant. .

Arizona’s near-total abortion ban was first enacted decades before Arizona was granted statehood in 1912, and its only exception is if the mother’s life is in danger. .

The personality law was passed in 2021 and was immediately challenged in federal court as unconstitutionally vague. The law grants all legal rights to unborn children. Abortion rights groups have said the law puts providers at risk of prosecution for various crimes.

U.S. District Judge Douglas Rayes declined to block it, saying an appeal was filed prematurely. After Roe was struck down, he heard another challenge and in July blocked the application, saying it was unconstitutionally vague.

Rayes agreed with the groups who filed a lawsuit to block the law, writing that “everyone guesses,” as the state has acknowledged, what criminal laws abortion providers might be breaking if they don’t. they perform otherwise legal abortions.

Rayes had blocked another part of the law last September, one to charge doctors who knowingly terminate pregnancies solely because of a fetal genetic defect such as Down syndrome. It also authorized lawsuits against anyone who helped raise money or pay for abortions performed solely because of a genetic abnormality.

Rayes said last year those provisions were also unconstitutionally vague. But the US Supreme Court overturned that decision shortly after overturning the Roe ruling.

On Friday, the Center for Reproductive Rights called on Rayes to re-block the section making abortions illegal if performed because of genetic problems with the fetus. A hearing date has not been set.

This year, the legislature passed a law making abortions illegal after 15 weeks of pregnancy. This law is due to come into force on September 24. It is partly the conflict between the total pre-state abortion ban and the new law that the Pima County judge must consider when deciding whether to lift the 1973 injunction.

“So I think what this tells us is that abortion, even though it’s still legal right now in Arizona, the future of abortion is still uncertain,” Forteno said.

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Thai obstetrician provides advice on prenatal t https://www.novascotiadownsyndromesociety.com/thai-obstetrician-provides-advice-on-prenatal-t/ Tue, 30 Aug 2022 02:02:08 +0000 https://www.novascotiadownsyndromesociety.com/thai-obstetrician-provides-advice-on-prenatal-t/ As part of a new series aimed at providing expectant parents with professional advice, “Your Health, Our Concern” interviews Dr. Prasit Viriyakijpaiboon, a Thai obstetrician, who shares helpful tips with families during pre-pregnancy times. and pregnancy. The period before pregnancy is also called “preconception”, the time before and between pregnancies. With more than 10 years […]]]>

As part of a new series aimed at providing expectant parents with professional advice, “Your Health, Our Concern” interviews Dr. Prasit Viriyakijpaiboon, a Thai obstetrician, who shares helpful tips with families during pre-pregnancy times. and pregnancy. The period before pregnancy is also called “preconception”, the time before and between pregnancies.

With more than 10 years of experience in this field, Dr. Prasit is also the CEO of Health Smile Company Limited which provides specialist medical services such as Non-Invasive Prenatal Testing (NIPT).

Advice for future parents

Dr. Prasit points out that before or during pregnancy, vitamin B complex, iron and folic acid supplements are necessary for mothers. Folic acid is recommended for at least three months during the pre-pregnancy period. In addition, screening for genetic abnormalities during the pre-pregnancy period can detect whether there is a higher risk of genetic diseases.

As soon as mothers find out that they are pregnant, they should go to the hospital or any nursing institute for prenatal care. Mothers can choose the Quad Screen Test or NIPT to screen for Down syndrome risk. For greater accuracy, he recommends NIPT as its screening accuracy is 99%.

This way, they might not need to undergo amniocentesis, which can increase the risk of miscarriage and infection.

How has Thailand promoted reproductive health?

All Thai women have access to free prenatal care, including screening for Down syndrome. In addition, the Social Security Office provides assistance with childbirth costs and monthly child-rearing subsidies.

Drug tests that apply Big Data

Advances in Thailand’s genomic database are helping to develop disease screening tests sooner than ever. Data is collected with more depth and focus, allowing medical professionals to retrieve data such as races, family characteristics, etc. All of this big data can be collected and further processed so that relevant risks can be identified.

Dr. Prasit believes that genome-related technologies help humans live better lives and promote reproductive health. He adds that “the greatest happiness and satisfaction of being an obstetrician is when parents bring their babies home healthy without any complications associated with pregnancy or childbirth.”

Video interview of Dr. Prasit

About NIFTY®: Non-Invasive Prenatal Screening

To learn more about the NIFTY® test – the world leader in non-invasive prenatal testing (NIPT), please see our website. The NIFTY test is suitable for pregnant women from 10 weeks gestation, with an estimated turnaround time of less than seven days. There are over 10,000,000 NIFTY samples processed as of 2021.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen, China, is the world’s leading provider of genomic sequencing and proteomics services. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of press releases posted on EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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