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Condition: Rare Diseases
Procedure: Liver Transplant
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Total 4 results found since Jan 2013.
Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
J Clin Med Res. 2023 Feb;15(2):76-83. doi: 10.14740/jocmr4843. Epub 2023 Feb 28.ABSTRACTClassical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. If this enzyme fails, the synthesis pathway of cysteine from methionine is interrupted, leading to the accumulation of homocysteine in the blood plasma and homocysteine in the urine. After birth, the children are unremarkable except for the characteristic laboratory findings. Symptoms rarely appear before the second year of life. The most common symptom is a prolapse of the crystalline lens. This finding is seen in ...
Source: Clin Med Res - March 10, 2023 Category: Research Authors: Stefan Bittmann Gloria Villalon Elena Moschuring-Alieva Elisabeth Luchter Lara Bittmann Source Type: research
When does life end? New organ donation strategy fuels debate
On a chilly holiday Monday in January 2020, a medical milestone passed largely unnoticed. In a New York City operating room, surgeons gently removed the heart from a 43-year-old man who had died and shuttled it steps away to a patient in desperate need of a new one.
More than 3500 people in the United States receive a new heart each year. But this case was different—the first of its kind in the country. “It took us 6 months to prepare,” says Nader Moazami, surgical head of heart transplantation at New York University (NYU) Langone Health, where the operation took place. The run-up included oversight from an ethi...
Source: ScienceNOW - May 11, 2023 Category: Science Source Type: news
