Stanford University scientists have implicated a logjam of three long, stringy substances behind deadly thick sputum in COVID-19 patients who need a machine to help them breathe. One of these substances may prove especially ...
Jun 24, 2022
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A powerful class of antibiotics provides life-saving relief for people with cystic fibrosis; however, a new study for the first time reveals the levels at which high cumulative dosages over time significantly increases the ...
Feb 25, 2017
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Wanda (Lemna) O'Neal was four years old when her sister Nancy died.
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A common bacterial pathogen called Pseudomonas aeruginosa produces a virus that substantially increases the pathogen's ability to infect us, according to a study by investigators at the Stanford University School of Medicine.
Mar 28, 2019
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The fight against cystic fibrosis, a genetic disease for which no cure is currently available, continues, targeting in particular some of the mutations that cause it. In a new study, a research team of the Cibio Department ...
Aug 7, 2019
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The heart of Frederic Chopin, among the world's most cherished musical virtuosos, may finally have given up the cause of his untimely death.
Nov 26, 2017
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(Medical Xpress) -- Every person carries on average 100 variants that disable genes - yet very few suffer ill effects, an international team of researchers led by Yale University and Wellcome Trust Sanger Institute report ...
Feb 16, 2012
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A drug used to thin blood has been found to also significantly improve the ability to breathe when inhaled by people with COPD (chronic obstructive pulmonary disease), for which there is no cure.
Dec 1, 2017
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While many 16-year-olds are content with PlayStation, Toronto-area student Marshall Zhang used the Canadian SCINET supercomputing network to invent a new drug cocktail which could one day help treat cystic fibrosis.
May 10, 2011
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Researchers from the George Washington University (GW), the University of Perugia, and the University of Rome have discovered a potential new drug to treat and stop the progression of cystic fibrosis. Thymosin α1 (Tα1) ...
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Cystic fibrosis (also known as CF or mucoviscidosis) is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across epithelium, leading to thick, viscous secretions.
The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Difficulty breathing is the most serious symptom and results from frequent lung infections that are treated with, though not cured by, antibiotics and other medications. Other symptoms, including sinus infections, poor growth, diarrhea, and infertility affect other parts of the body.
CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This gene is required to regulate the components of sweat, digestive juices, and mucus. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally and therefore has autosomal recessive inheritance.
CF is most common among Caucasians; one in 25 people of European descent carries one allele for CF.
The World Health Organization states that "In the European Union 1 in 2000-3000 newborns is found to be affected by CF".
Individuals with cystic fibrosis can be diagnosed before birth by genetic testing, or by a sweat test in early childhood. Ultimately, lung transplantation is often necessary as CF worsens.
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