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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Pseudomonas aeruginosa. Pseudomonas aeruginosa is a common encapsulated, Gram-negative, aerobic – facultatively anaerobic, rod-shaped bacterium that can cause disease in plants and animals, including humans. [1][2] A species of considerable medical importance, P. aeruginosa is a multidrug resistant pathogen recognized for its ubiquity, its ...
Cystic fibrosis (CF) is an autosomal recessive and monogenetic disorder. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. [3] The CFTR protein (Figure 1) serves to move chloride ions to the surface of cells to ensure proper hydration. When this protein becomes dysfunctional, the chloride ions are ...
Cystic fibrosis (CF) is an autosomal recessive hereditary monogenic disease of the lungs, sweat glands and digestive system. The disorder is caused by the malfunction of the CFTR protein, which controls intermembrane transport of chloride ions, which is vital to maintaining equilibrium of water in the body. The malfunctioning protein causes ...
Cystic fibrosis transmembrane conductance regulator. Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene. [ 5 ][ 6 ] Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis).
A common genetic cause is cystic fibrosis, which affects chloride ion transport. [28] Another genetic cause is primary ciliary dyskinesia, a rare disorder that leads to immotility of cilia and can lead to situs inversus. [52] When situs inversus is accompanied by chronic sinusitis and bronchiectasis, this is known as Kartagener's syndrome. [53]
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia (Karelia and Ingria). There are 36 rare diseases regarded as Finnish heritage diseases. [1] The diseases are not restricted to Finns ...