A single genetic defect on the X chromosome that can result in a wide array of conditions—from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in middle-aged men—occurs at a much ...
Dec 20, 2012
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Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic ...
Jul 27, 2022
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(HealthDay)—An improved type 1 diabetes (T1D) genetic risk score (GRS), the T1D GRS2, is highly useful for classifying adult incident diabetes type and improving newborn screening, according to a study published in the ...
Jan 25, 2019
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Pulse oximetry, a non-invasive procedure that measures the amount of oxygen in the bloodstream, can be used as a screening tool to detect critical congenital heart disease (CCHD) in infants, and is more readily available ...
Oct 14, 2011
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Babies undergo a newborn screening test for inherited metabolic disorders within seven days of birth. The test checks for risk factors such as hypothyroidism, phenylketonuria and maple syrup urine disease, which can lead ...
Jan 19, 2023
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Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes ...
Aug 24, 2022
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Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg and Regensburg University, both in Germany, and the University of Lisboa, in Portugal, have discovered a promising potential drug target for cystic ...
Sep 13, 2013
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(Medical Xpress) -- Like a half-million other babies born in California in 2010, Sophia and Charlotte Gonzales each had a blood sample collected after their birth for the state’s newborn screening program. But in this ...
Jan 9, 2012
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Scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) are using a new approach to pinpoint the causes of rare genetic diseases in children and identify treatment options faster than with ...
Apr 30, 2019
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Newborn screening is required in the U.S. and differs slightly depending on which state you live in. For the most part, it's done before a newborn baby leaves the hospital and includes a blood test that screens for 30-50 ...
May 24, 2019
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