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Evalytics 16 May at 01.28 PM

Clues behind defying the fate of predetermined Alzheimer’s genetics


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The US Centers for Disease Control and Prevention have reported two confirmed cases of highly contagious, drug-resistant ringworm infections in New York City. The patients – two unrelated women in New York City – first had symptoms in 2021 and 2022 and are the first such cases reported in the United States.
A new type of drug to treat menopausal hot flashes and night sweats has been approved, per the US Food and Drug Administration. Created by Astellas Pharma, Veozah, or fezolinetant, is the first approved of the class of neurokinin 3 antagonists, which are designed to block receptors in the brain belonging to body temperature regulation pathways.
Following a recent cluster of mpox cases in Chicago, the US Centers for Disease Control and Prevention has issued a warning surrounding a potential mpox resurgence this summer. Twelve confirmed cases and one probable case of mpox, all of which occurring in men between 24 and 46 years old, were reported to the Chicago Department of Public Health between April 17 and May 5, according to the CDC.
The National Institutes of Health has announced that an early-stage clinical trial has begun accepting subjects to test a universal flu vaccine based on RNA technology. This tech, famously utilized to combat the Covid-19 pandemic, offers hope for the vaccine to protect against a wide variety of flu strains and provide long-term immunity so people do not have to receive a shot every year.
Two advisory panels collected for the US Food and Drug Administration have voted unanimously in support of transitioning the birth-control pill Opill available over-the-counter. The unanimous decision provides confidence in the benefits outweighing the risks of this decision, and the move to provide safe and effective access to contraception should be seen as a major win for women.

Opinion

Clues behind defying the fate of predetermined Alzheimer’s genetics
While seeking the secrets behind unlocking Alzheimer’s disease, a major clue may have been uncovered through careful genetic analysis. A man genetically fated to suffer memory loss in his 40s or 50s, based on family history and inherited genes, maintained normal cognitive function far longer than expected. He is believed to have been provided protection by a rare gene that provided downstream cellular function towards nerve cell communication.
  • The man and members of his family inherited a mutated gene called presenilin-1, or PSEN1. Carriers of this gene are almost certain to develop early-stage Alzheimer’s disease. Following his death and medical examination, his brain was loaded with beta amyloid and tau, two proteins that accumulate in the brains of Alzheimer’s disease patients. However, he did not develop mild dementia until age 72, before passing away from pneumonia at 74, exceeding his cognitive decline expectations and staving off Alzheimer’s.

  • Upon further genetic analysis, it was revealed that this man had a rare change in a gene that codes for a protein called reelin, which helps nerve cells communicate. The enhanced reelin protein seemed to be protecting a very specific part of the man’s brain, an area that sits behind the nose at the base of the brain called the entorhinal cortex. It’s an area of the brain that also sends and receives signals related to the sense of smell. Loss of smell is often a harbinger of brain changes that lead to memory and thinking difficulties.
Dr. Joseph Arboleda-Velasquez, an associate professor of ophthalmology at Harvard University and lead author of a new study on the man, states: “In this case, it was very clear that this reelin variant makes reelin work better. That gives us a huge insight. It makes it very obvious that just putting more reelin in the brain may actually help patients. Another big insight from this case is, it seems like maybe you don’t need this everywhere in the brain. When people have Alzheimer’s, it starts in the entorhinal cortex, and then it spreads.”

Enter evalytics labs

National Provider Identifiers (NPI) are unique 10-digit identification numbers assigned to healthcare providers in the United States. They are used to identify and bill for the medical services provided by healthcare professionals and organizations. The NPI system was implemented by the Centers for Medicare and Medicaid Services (CMS) in May 2007, as a part of the Health Insurance Portability and Accountability Act (HIPAA) of 1996. The NPI replaced the Unique Provider Identification Numbers (UPIN) and the Medicaid Provider Identifier (MUPID), which were previously used for the same purpose.
Where can I locate my NPI number? The Evalytics NPI Lookup Tool combines NPI numbers and other datasets to present provider information in an easy-to-use format.

What to Watch For

FDA advisers narrowly vote in favor of experimental gene therapy for rare muscle disease
A dozen children are participating in an experimental gene therapy treatment by receiving SRP-9001, which aims to slow or stop the progression of Duchenne muscular dystrophy, or DMD. The current treatment plan, which aims to slow the progression but does not effectively stop it, begins with steroids and later heart drugs. SRP-9001 uses viruses to ferry a copy of a gene to muscles to help make up for one that’s causing the disease.
Key takeaways
  • Outside advisers to the US Food and Drug Administration voted 8-6 in favor of approving the treatment under accelerated approval circumstances, and the FDA will now decide whether to follow their advice. The FDA’s decision is expected by the end of the month.

  • Gene therapy is an ideal approach to this disease because it is a genetic disease with a mutation of a single gene. This gene is responsible for the production of dystrophin, a protein key to the structure of muscle cells.

  • SRP-9001, invented at Nationwide Children’s Hospital in Columbus, Ohio, before being licensed for development by Sarepta, delivers a miniaturized version of the dystrophin gene to cells, aiming to help them make a version of the muscle-preserving protein
Duchenne muscular dystrophy by the digits
  • 300,000 children and young adults worldwide.

  • 15,000 children and young adults in the United States.

  • 5 those with Duchenne are usually diagnosed before age 5. one year.

  • 12 may use a wheelchair by age 12.

  • 20s most pass away in their 20s.

Challenge Yourself

Is There a Doctor in the House?
Take our weekly quiz and see how you stack up against your peers
A phase 2, multicenter trial was conducted to determine the efficacy of a new vaccine for prevention of HIV infection. The study enrolled 4000 subjects, aged 20 to 65 years. Of these subjects, 2100 were men and 1900 were women; 2500 were white, 1000 were African American, 300 were Hispanic, and 200 were Asian/Pacific Islanders. Results of the trial showed no overall benefit of the vaccine. However, post hoc analysis disclosed a small but statistically significant vaccine protection among African American subjects.

Which of the following is the most accurate rationale for questioning the validity of efficacy analysis of the HIV vaccine among the African American study subjects?

A  Allocation bias favored African American subjects
B  HIV infection is more prevalent among African American populations
C  Vaccine response among African American subjects was not the primary outcome measure
D  The study was not blinded


SURPRISING DISCOVERIES

Scientists have been able to collect and analyze detailed genetic data from human DNA from footprints left on the beach, air breathed in a crowded room, and even the ocean water, raising thorny ethical questions about consent, privacy and security when it comes to our biological information. The researchers from the University of Florida may have opened a Pandora sized box of potential utilizations of these findings, such as finding missing persons, aiding in forensic investigations related to crimes, or even archaeological sites of interest.
A federally funded National Maternal Mental Health Hotline received over 12,00 calls and texts in its first year of production, findings show. The mental health hotline designed for new and expectant parents averaged about 1,000 interactions a month, and apparently surged in popularity following Lindsay Clancy allegedly strangling her three young kids and attempting to kill herself on Jan. 24 at her Duxbury, Massachusetts, home.
The US Preventive Services Task Force has proposed a change in breast cancer screening from age 50 to 40 for all women at average risk of developing the disease. According to a new draft recommendation statement, the goal of this change in mammogram timing is to reduce their risk of dying from the disease.
According to a new study, a novel peanut patch has shown promising results in a late-phase clinical trial in toddlers with peanut allergies. The trial involved 362 toddlers from eight countries; 244 were randomly assigned to receive the Viaskin patch – which features 250 micrograms of peanut protein, the equivalent of about 1/1000th of one peanut – and 118 got a placebo patch to be worn daily for a year prior to undergoing screening for peanut challenges.


Thank you for reading! More next week,
My best wishes for a productive and idea-filled week ahead. Thanks for your ongoing efforts to improve the lives of the patients we all serve. Please send any news, comments, suggestions and ideas to hello@morningmed.email.
Quiz answer: The correct answer is C) "Vaccine response among African American subjects was not the primary outcome measure"

 

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