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A New Outlook: How Carrier Screening Shaped One Family’s Future

Myriad Genetics

We went through the pediatrician, the physical therapist, and none of those people brought up carrier screening. A carrier screen is a genetic test that looks at a couple’s DNA to see if they are carrying any genetic mutations that could be inherited by their baby. “We started asking questions because he still wasn’t walking.

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

Myriad Genetics

Less invasive options like prenatal cell-free DNA (cfDNA) screens can also be used to help identify the microdeletion. According to a study in Genes (Basel) , cfDNA screens have “a 70–83% detection rate and a 40–50% positive predictive value (PPV) for most associated 22q microdeletions.” We observed 100% PPV. DiGeorge syndrome (22q11.2

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Evaluating effectiveness of educational intervention on syphilis screening and interpretation in a Family Medicine Residency [Infectious diseases (not respiratory tract)]

Annals of Family Medicine

Improved interpretation and management of syphilis screening results after intervention Results: Survey questions assessing knowledge had variable performance with net poor discrimination after the educational intervention. Post-hoc power analysis for appropriate versus inappropriate diagnosis and management was very low (2.7%

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AI Model Can Aid Physicians in Skin Cancer Diagnoses

Physician's Weekly

TUESDAY, June 17, 2025 (HealthDay News) — The PanDerm artificial intelligence (AI) model improves skin cancer diagnosis when used by doctors, according to a research article published online June 6 in Nature Medicine. PanDerm outperformed clinicians by 10.2 percent across 128 skin conditions on clinical photographs.

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Screening for Dementia: A Podcast with Anna Chodos, Joseph Gaugler and Soo Borson

GeriPal

Summary Transcript Summary The US Preventive Services Task Force (USPSTF) concluded back in 2000 that there is insufficient evidence to recommend for or against routine screening for dementia in older adults. If so, how do we screen and who do we screen? What should we use to screen individuals? Cognitive screening.

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How To Increase Thyroid Hormone Naturally

AMMD

Whether you have received a formal diagnosis or you simply feel exhausted, foggy, or have noticed weight gain, your thyroid gland may be the root cause. For more information on nutrient-dense eating, take a listen to this Take Back Your Health™ episode with Dr. Sarah Ballantyne. Low thyroid hormone is more common than many realize.

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Molecular Analysis Improves FH Prognosis & Risk Stratification

Physician's Weekly

Adding genetic testing to clinical familial hypercholesterolemia screening improves risk assessment, prognosis and helps to guide targeted therapy. Records also included other information related to cardiovascular risk and history. Through testing that screened for 11 genetic markers, 67.9% of those with a score of 8 or higher.