Bronchoalveolar lavage cytology in pulmonary alveolar proteinosis
Clinical and molecular characterization of lipoid proteinosis
in Namaqualand, South Africa.
maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Whole lung lavage in the treatment of pulmonary alveolar proteinosis
Additional lung effects that were found at the same dose levels as those in inflammation include alveolar epithelium hyperplasia, fibrosis in rats and mice exposed to nickel subsulphide, and bronchiolization and/or alveolar proteinosis
in mice exposed to nickel oxide (119).
(Urbach-Wiethe disease) is a rare autosomal-recessive anomaly that primarily affects the skin and the mucosa of the upper aerodigestive tract in children.
4) This is speculated to lead to inhibition of lipid degradation and surfactant turnover, a mechanism similarly implicated in pulmonary alveolar proteinosis
Occasionally, bronchoalveolar lavage and transbronchial biopsy are revealing, especially with sarcoid, pulmonary alveolar proteinosis
or to confirm active alveolitis in collagen vascular diseases.
A British-led team of international researchers showed how mutations in a gene led to the development of lipoid proteinosis
, a skin disorder affecting hundreds of families throughout the world, especially common in the northern Cape region of South Africa.
Congenitally missing teeth are seen in Witkop syndrome, Book syndrome, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, Ellis-van Creveld syndrome, Hallermann-Streiff syndrome, focal dermal hypoplasia, lipoid proteinosis
, Rieger syndrome, otodental dysplasia, Coffin-Lowry syndrome, trichodental syndrome and others.
Strange is the Principal Investigator for the NIH Rare Lung Disease Consortium at MUSC, which will study CT lung densitometry in alpha-1 antitrypsin deficiency, the efficacy and safety of rapamycin in lymphangioleiomyomatosis (LAM), and macrophage functioning in alveolar proteinosis
They transplanted either normal or gene-corrected macrophages into the respiratory tracts of mice, which were bred to mimic the hereditary form of a human disease called hereditary pulmonary alveolar proteinosis