MeSH tree: C05.116.099
The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which has no cure to date. This disease causes an aortic aneurysm ...
May 19, 2025
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A study by the Institut de Neurociències of the Universitat Autònoma de Barcelona (INc-UAB) reveals that inflammation associated with Marfan syndrome increases vulnerability to neurological diseases and complications following ...
May 15, 2025
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New research has uncovered more about the complexity of human gene regulation by identifying certain sequences of proteins called transcription factors that bind to DNA and regulate the expression of human genes.
Apr 9, 2025
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For decades, the rare bone condition osteogenesis imperfecta has been diagnosed on a spectrum, from mild to lethal. New research by Nemours Children's Health physicians suggests that many babies whose cases are prenatally ...
Mar 4, 2025
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A common anatomical variation is being born with more than ten fingers or more than ten toes.
Feb 6, 2025
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Real-time observation of certain biochemical processes in blood vessels from mice has revealed a previously unknown similarity between atherosclerosis, also known as vascular calcification, and bone growth.
Jan 15, 2025
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A 14-year-old girl was having back pain after a car accident and visited an orthopedic clinic at Boston Children's Hospital. In the course of her care, she joined the Children's Rare Disease Collaborative (CRDC), a hospital-wide ...
Dec 14, 2024
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A promising daily tablet is effective at increasing height and improving proportional limb growth in children with achondroplasia, the most common form of dwarfism, according to a new study. And the findings could spare these ...
Nov 18, 2024
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The moment Kirsten Dorsey realized she would deliver her second child and have open-heart surgery on the same day, her heart raced and her breath quickened.
Nov 6, 2024
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For those of a certain age, Coneheads is an iconic 90s film. But for breakdancers, it seems, developing a cone-shaped head can be an occupational hazard.
Oct 17, 2024
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