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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.
Clinical trial number NCT05076149 for "A Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Who Are Homozygous for F508del, Heterozygous for F508del and a Gating (F/G) or Residual Function (F/RF) Mutation, or Have At Least 1 Other Triple Combination Responsive (TCR) CFTR Mutation and No F508del Mutation" at ...
Cystic Fibrosis Australia (CFA), [1] an Australian national organization aimed at raising awareness and education of cystic fibrosis through advocacy and research Cystic Fibrosis Community Care (CF Community Care), [2] the largest Australian state-based organization dedicated to raising awareness of CF, providing support services and advocacy to people with CF and funding research into CF.
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.
Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue.
Pulmonary fibrosis is a condition in which the lungs become scarred over time. [1] Symptoms include shortness of breath , a dry cough, feeling tired, weight loss, and nail clubbing . [ 1 ] Complications may include pulmonary hypertension , respiratory failure , pneumothorax , and lung cancer .
However recently scientists have suggested that his symptoms were more consistent with cystic fibrosis, unknown at the time. The Polish government has refused to allow DNA tests to be performed on his heart, which is preserved in alcohol (see Frédéric Chopin's illness ).
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 ...