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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Children born with so-called "bubble boy" disease have the best chance of survival if they undergo a hematopoietic stem cell transplant as soon after birth as possible, according to a detailed analysis of 10 years of outcome ...
Jul 30, 2014
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New research published in Blood Advances reveals that since the introduction of pneumococcal conjugate vaccines, PCV7 and PCV13, invasive pneumococcal infection (IPD) rates among children living with sickle cell disease (SCD) ...
Sep 12, 2023
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A new study led by a team from the Research Institute of the McGill University Health Centre (RI-MUHC) and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients. Despite the ...
May 5, 2016
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(Medical Xpress)—One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of ...
Jun 7, 2013
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(HealthDay)— New guidelines on testing newborns and children for genetic diseases recommend screening for childhood diseases but note that testing for diseases that strike in adulthood may not be worthwhile.
Feb 21, 2013
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There is a hint of a benefit of pulse oximetry screening as an add-on test to existing standard examinations for detection of critical congenital heart defects in newborns: More cases are detected by additional screening ...
Oct 30, 2015
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The global burden of sickle cell anemia (SCA), a hereditary blood disorder, is increasing, with almost half a million babies estimated to be born with the condition in 2050, according to a study published in this week's PLOS ...
Jul 16, 2013
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UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong ...
Aug 31, 2023
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The birth of a new child is an exciting, anxiety-inducing, life-changing event. Among the flurry of physical health tests and introductions to your new family addition, your child is screened for a litany of rare diseases ...
Mar 3, 2016
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