Remove 2023 Remove Diagnose Remove Families Remove Screening
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Should We Screen for Atrial Fibrillation? ESC Says Yes (2024), Evidence Says…?

Family Medicine Initiative

In November 2024, two new RCTs were published that investigated whether atrial fibrillation screening using an ECG is effective. A limitation was that only 49% of those invited participated in the screening. UK National Screening Committee (2019): “Screening is not currently recommended for this condition.”

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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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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. Less invasive options like prenatal cell-free DNA (cfDNA) screens can also be used to help identify the microdeletion. Thus, the value of using cfDNA screens for 22q has been marginal. Published 2023 Jan 6.

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Parvo Podcast! Erythema Infectiosum, Fifth Disease, and more!

PEMBlog

Counsel families and caregiversincluding pregnant household contactson the risks, exposures, and infection control considerations related to Parvovirus B19. It is a non-enveloped, single-stranded DNA virus in the Parvoviridae family. Sometimes I share it with patients and families. So how do we diagnose Parvovirus B19?

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Sweet! A Metabolic Disorders focused podcast episode

PEMBlog

Consider it a supplement to what you remember from Biochemistry and the instructions on the family’s laminated care plan sheet. Updated 2023 Jul 17]. Since an individual must have two copies of the mutation to be affected, the parents and other family members who have one copy, which are known as carriers, will be unaffected.

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Guiding an Improved Dementia Experience (GUIDE) Model: A Podcast with Malaz Boustani and Diane Ty

GeriPal

Don’t get me wrong, the evidence points to cost savings, but as Chris Callahan and Kathleen Unroe pointed out in a JAGS editorial in 2020 “in comprehensive dementia care models, savings may accrue to Medicare, but the expenses accrue to a fluid and unstable network of local service providers, patients, and their families.” Malaz: I love it.