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Cystic fibrosis is caused by defects in a protein found in many tissues, including the airways and the sweat glands. [1] As a result, these tissues do not work properly. Sweat testing makes use of the fact that cystic fibrosis patients have defective sweat glands. [2]
Heterozygous carriers of cystic fibrosis can have a raised IRT and it is therefore not diagnostic in isolation. [2] IRT is measured in routine heel-prick blood taken for biochemical screening of all newborn infants born in the UK. This test is one of a number of completed in newborn screening (the "Guthrie Test").
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.
Pulmonary function testing is a diagnostic and management tool used for a variety of reasons, such as: Diagnose lung disease. Monitor the effect of chronic diseases like asthma, chronic obstructive lung disease, or cystic fibrosis. Detect early changes in lung function. Identify narrowing in the airways. Evaluate airway bronchodilator reactivity.
However, a small portion of patients with cystic fibrosis, especially those with "mild" mutations of the cystic fibrosis transmembrane regulator (CFTR) ion channel, have near-normal sweat tests. In these cases, a useful diagnostic adjunct involves measuring the nasal transepithelial potential difference (i.e. the charge on the respiratory ...
Cardiovascular risk is indicated by biological markers and screening can measure the risk that a child will be born with a genetic disease such as Cystic fibrosis. [40] Genetic testing is ethically complex: patients may not want the stress of knowing their risk. [41] In countries without universal healthcare, a known risk may raise insurance ...
My daughter was born with Cystic Fibrosis. We knew she was going to have this due to genetic testing that was done before she was born. ... Just spent $1.2k on a routine annual physical with ...
cystic fibrosis: CFA: complement-fixing antibody colonization factor antigen CFIDS: chronic fatigue immune dysfunction syndrome: CFR: case fatality rate: CFS: chronic fatigue syndrome: CFT: complement fixation test capillary filling time: CFTR: cystic fibrosis transmembrane conductance regulator: CFU: colony-forming unit: CGD: chronic ...