Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The ...
May 23, 2022
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Presenting individuals with potentially life-altering health information doesn't mean the individuals—or their healthcare providers—will act on it. Follow-up education and conversations about actionable care plans with ...
Apr 27, 2022
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Ovarian cancer is the most deadly of gynecologic tumors. Fewer than 40% of those diagnosed with ovarian cancer are cured, and approximately 12,810 people in the U.S. die from the disease every year.
Apr 26, 2022
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A new study published in the Journal of the American Medical Association led by researchers from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine found that being a carrier of a genetic variation ...
Apr 14, 2022
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Even with more advanced treatments and early intervention, caregivers of young people living with childhood glaucoma face profound challenges with no cure or way to reverse the damage—and always facing the prospect of their ...
Apr 4, 2022
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Movement disorders include a range of conditions affecting the nervous system, with more rare disorders increasingly found to be caused by genetic mutations.
Mar 8, 2022
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Cerebral palsy, or CP, has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity.
Jan 31, 2022
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Cerebral palsy, a non-progressing motor impairment that begins in early childhood, has widely been viewed as the result of oxygen deprivation during birth or other birth-related factors such as prematurity. While this is ...
Jan 25, 2022
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A newly developed test to screen for three rare genetic disorders simultaneously in newborns was feasible, reliable and scalable, according to a new study.
Jan 24, 2022
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For individuals with unexplained infantile or childhood-onset epilepsy, genetic testing to establish a genetic diagnosis may impact medical care and prognosis, according to a study presented at the annual meeting of the American ...
Dec 29, 2021
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