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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.

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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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Primary Care Provider Perspectives at an Academic Medical Center: Are Telemedicine Visits as Effective as In-person Care? [Survey research or cross-sectional study]

Annals of Family Medicine

Setting: Providers across six Northern California clinic sites surveyed over an 8-week period (March 21-May 16, 2023). Population Studied: 87 primary care providers, including family physicians, internists, nurse practitioners, and physician assistants. Descriptive statistics were used to assess provider rating of visit efficacy.

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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. IgA vasculitis D. Serum sickness-like-reaction E. Urticarial vasculitis Click here to reveal the correct answer B.

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Migraine headaches: diagnostic and treatment tips

Common Sense Family Doctor

A retrospective analysis of characteristics of 15 consecutive years of code stroke cases at a hospital in Barcelona, Spain, found that patients who were ultimately diagnosed with migraine headache with aura (1.1%) were more likely to be younger, female, and have fewer vascular risk factors than patients with ischemic strokes.

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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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