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Rare Diseases: Pathways to accelerating diagnoses 

Myriad Genetics

Many of us have seen stories in the news about American families on diagnostic odysseys for their children with rare diseases. More and more, doctors, researchers, and families are turning to technologies like AI and even Google to help them decode health symptoms and get on the road to solutions and treatments. None of them.

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Should We Screen for Atrial Fibrillation? ESC Says Yes (2024), Evidence Says…?

Family Medicine Initiative

ACC/AHA/ACCP/HRS Guideline (2023): “It is not yet established that patients at high risk of developing AF by a validated risk score benefit from screening.” Although not a guideline, still relevant: The German Arznei-Telegramm concluded in 2021, 2023, and 2024 that atrial fibrillation screening is not recommended in asymptomatic individuals.

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Loss of empathy is a key problem in people with frontotemporal dementia—here's what's happening in the brain

Medical Xpress

Frontotemporal dementia has gained significant attention in recent years after the family of actor Bruce Willis announced in 2023 that he had been diagnosed with the condition. A year later, it was revealed that US chat show host Wendy Williams had also been diagnosed with the condition.

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PEMPix 2023 Online Case 2: Walk Softly

PEMBlog

She was seen at an urgent care the day prior to presentation, diagnosed with a viral exanthem, and discharged with oral prednisone. The family denies any sore throat, abdominal pain, diarrhea, vomiting, conjunctivitis. Urticarial vasculitis Click here to reveal the correct answer B. This is a viral exanthem caused by Parvovirus B19.

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PEMPix 2023 Online Case 1: A House Divided

PEMBlog

She was diagnosed with constipation. The family declined an enema in the ED, and she was discharged home on a miralax cleanout to follow up with her PCP. The patient was diagnosed with OHVIRA syndrome: O bstructed H emi v agina with I psilateral R enal A nomaly (aka Heryln-Wener-Wunderlch syndrome).

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Many Older People Embrace Vaccines. Research Is Proving Them Right.

Physician's Weekly

” Because the FDA first approved an RSV vaccine in 2023, the 2023-24 season provided “the first opportunity to see it in a real-world context,” said Pauline Terebuh, an epidemiologist at Case Western Reserve School of Medicine and an author of a recent study in the journal JAMA Network Open.

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AMPLIFY™ Technology Enhances Prenatal Screening for 22q11.2 Microdeletion

Myriad Genetics

Typically, the way to diagnose 22q prenatally is through chorionic villus sampling or an amniocentesis. Parent support groups are available in the United States, Canada, Europe, and Australia, as well as online, and can provide families with additional information and support.” Published 2023 Jan 6. Microdeletions.