Newborn screening (NBS) and management of congenital hypothyroidism is addressed in a clinical report published online Dec. 19 in Pediatrics.
Dec 20, 2022
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(HealthDay) -- Primary care pediatric practices can improve short-term newborn screening (NBS) follow-up through quality-improvement processes, according to a study published online Aug. 6 in Pediatrics.
Aug 6, 2012
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New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)—a genetic disorder characterized by weakness and wasting ...
Jun 8, 2022
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Could a low-cost screening device connected to a cell phone save thousands of women and children from anemia-related deaths and disabilities?
Jul 24, 2012
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Two-day-old Ellie Bailey squirms in a hospital bassinet and cries as her tiny left heel is squeezed and then pricked with a needle to draw a blood sample. An Indianapolis hospital technician quickly saturates six circles ...
May 13, 2016
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Newborn screening (NBS) for spinal muscular atrophy (SMA), when combined with early treatment, results in better movement ability in affected children, including the ability to walk, when compared to children who are diagnosed ...
Jan 18, 2023
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An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children's Hospital. The condition, linked to mutations in a gene called DOCK2, ...
Jun 18, 2015
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An international research group of 32 experts from nine countries has updated the guidelines for diagnosing the genetic disease cystic fibrosis. The researchers expect that these guidelines will provide better direction for ...
Jan 31, 2017
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Introducing widespread screening of newborns for a deadly disease called severe combined immunodeficiency, or SCID, followed by early treatment boosted the five-year survival rate of children with the disorder from 73% before ...
Jun 21, 2023
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The latest data on universal screening for type 1 diabetes (T1D) is reviewed in a session at this year's Annual Meeting of the European Association for the Study of Diabetes (EASD) in Hamburg, Germany (2–6 October). The ...
Oct 3, 2023
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