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Nanomedicines for the Treatment of Respiratory Diseases
Published in Sarwar Beg, Mahfoozur Rahman, Md. Abul Barkat, Farhan J. Ahmad, Nanomedicine for the Treatment of Disease, 2019
Brahmeshwar Mishra, Sundeep Chaurasia
Cystic fibrosis, a frequent inherited, autosomal recessive disorder. It is caused by a dysfunction of the epithelial chloride channel CFTR (cystic fibrosis transmembrane regulator) (Rosenstein and Zeitlin, 1998). So far, more than 500 mutations of the CFTR gene are known that are associated with cystic fibrosis (Stern, 1997). Apart from gastrointestinal manifestations such as pancreatic insufficiency, the major cause of morbidity results from airway disease (Rosenstein and Zeitlin, 1998). The hypersecretory-induced airway changes in cystic fibrosis are characterized by submucosal gland and goblet cell hyper- and metaplasia, leading to mucus over-production and distortion of the mucociliary clearance. As a result, airway plugging by mucus leads to chronic inflammatory changes and bacterial colonization (Groneberg et al., 2002; Ramsey, 1996).
Clinical Applications of Immunoassays
Published in Richard O’Kennedy, Caroline Murphy, Immunoassays, 2017
Cystic fibrosis (CF) is one of the commonest life-threatening autosomal recessive conditions primarily affecting Caucasian populations. It is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which results in the expression of a dysfunctional chloride channel in exocrine tissue. This defect leads to abnormal transport of chloride and sodium across the epithelium leading to the formation of thick viscous secretions affecting the lung, pancreas, liver, intestine and the reproductive tract. Ultimately it is progressive lung disease, which is the major cause of morbidity and mortality in CF patients, as increased viscous secretions in the lung promote bacterial colonisation [40]. Diagnosis of CF is based on both biochemical and genetic testing. The sweat chloride test is the mainstay of laboratory confirmation. This test is performed using pilocarpine iontophoresis followed by chemical analysis of the secretions. A chloride concentration >60 mmol L−1 is required for a diagnosis of CF. A small quantity of a dried blood sample is now routinely used in screening newborns for CF and can identify approximately 95% of CF cases. This test is based on the detection of elevated immunoreactive trypsin (IRT) levels and can be quantified by either radioimmunoassay or by an enzyme-linked immunoassay [41].
Similarity-Based Artificial Intelligence
Published in Mark Chang, Artificial Intelligence for Drug Development, Precision Medicine, and Healthcare, 2020
Cystic fibrosis (CF) is a rare, inherited, autosomal recessive genetic, life-threatening disorder that causes exocrine glands to work incorrectly. CF damages multiple organs and systems in the body including respiratory (sinuses, lungs), gastrointestinal, reproductive, and integumentary. In CF drug development, a clinical endpoint to evaluate the drug’s efficacy is the absolute improvement in lung function (percent predicted forced expiratory volume in one second or ppFEV1) compared to baseline. The attributes of interest include treatment, age, sex, and baseline ppFEV1.
Gene Editing: A View Through the Prism of Inherited Metabolic Disorders
Published in The New Bioethics, 2018
The inherited metabolic disorders arise when a mutation in a given gene results in a deficiency of the related enzyme. The majority of these conditions are inherited in an autosomal recessive manner, whereby both the maternally inherited and paternally inherited copy of the given gene must harbour a mutation for the disease to manifest. In the usual situation this means that both parents are heterozygous carriers of the condition, i.e. they each carry one mutated copy of the gene and one ‘healthy’ copy. Thus a deficiency of the enzyme phenylalanine hydroxylase caused by mutations in the PAH gene gives rise to the condition phenylketonuria (PKU), associated with pathologically high phenylalanine levels as this amino acid cannot be converted to tyrosine. Untreated, PKU results in significant progressive damage to the central nervous system, manifesting with microcephaly, developmental delay and significant cognitive impairment. PKU is eminently treatable with dietary phenylalanine restriction, and detection via newborn screening permits treatment to be commenced before damage occurs. Many of the metabolic disorders, however, carry a devastating prognosis, for example mucopolysaccharidosis type III (Sanfilippo syndrome) which is caused by deficiency of one of the several lysosomal enzymes that degrade complex macro-molecules (the glycosaminoglycans), with the result that these macro-molecules accumulate in different tissues of the body including the brain and cause a relentlessly progressive neurodegenerative disorder, with childhood onset dementia and significantly curtailed life-expectancy.