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Screen Time

Adventures of a Sick Doctor

I have been working in cancer screening for seven months now, and I have had the opportunity to reflect on what that means for me, as a cancer patient myself. For a start, my cancer is colorectal not cervical, and besides it is unrelated to screening as I was diagnosed at an age that is outside of the screening parameters.

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Rare Diseases: Pathways to accelerating diagnoses 

Myriad Genetics

Recently, the Today Show highlighted Courtney (she asked that only first names be used), who visited 17 different doctors over three years to help diagnose her young son Alex, who she was watching suffer and decline before her eyes. None of them. It was the AI program ChatGPT.

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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

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. Such is the case with the 22q11.2

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Improved accuracy of screening tools for fetal alcohol spectrum disorder may lead to faster diagnosis

Medical Xpress

A new screening instrument has the potential to more accurately identify fetal alcohol spectrum disorder (FASD), reducing missed and erroneous diagnoses in affected children and facilitating treatment and support, a new study suggests.

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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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Postural Sway Velocity Effective for Assessing Diabetic Peripheral Neuropathy

Physician's Weekly

Postural sway velocity as a screening tool in diabetic peripheral neuropathy represents a potential early marker of balance impairment and fall risk. In one study that was not presented at the PNS annual meeting, the researchers aimed to assess whether evaluating balance and gait could serve as a viable screening tool of DPN.