Pulmonary alveolar proteinosis requiring "hybrid" extracorporeal life support, and complicated by acute necrotizing pneumonia.
Abstract
Pulmonary alveolar proteinosis (PAP), which was first described by Rosen in 1958, is a rare disease characterized by impaired surfactant metabolism that provokes the accumulation of proteinaceous material in the alveoli. PAP is usually an auto-immune disease though, less commonly, may be congenital or secondary to another underlying disorder, such as infection, an immunodeficiency or a haematological disease. A positive diagnosis can be made with the appearance of "crazy-paving" on a computed tomography scan, with a milky fluid bronchial aspiration. A cytological examination will also show eosinop...
Source: Annales Francaises d'Anesthesie et de Reanimation - April 1, 2013 Category: Anesthesiology Authors: Moisan M, Lafargue M, Calderon J, Oses P, Ouattara A Tags: Ann Fr Anesth Reanim Source Type: research
Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios
The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research
