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Alpha1-antitrypsin deficiency: An updated review
Presse Med. 2023 Jul 28:104170. doi: 10.1016/j.lpm.2023.104170. Online ahead of print.ABSTRACTAlpha1-antitrypsin deficiency (AATD) is a rare autosomal recessive disease associated with the homozygous Z variant of the SERPINA1 gene. Clinical expression of AATD, reported 60 years ago associate a severe deficiency, pulmonary emphysema and/or liver fibrosis. Pulmonary emphysema is due to the severe alpha1-antitrypsin deficiency of the ZZ homozygous status and is favored by smoking. Liver fibrosis is due to the ZZ homozygous status and is favored by obesity and excessive chronic alcohol intake, with a risk of liver cancer. Diag...
Source: Presse Medicale - July 30, 2023 Category: General Medicine Authors: Jean-Fran çois Mornex Julie Traclet Olivier Guillaud Magali Dechomet Christine Lombard Mathias Ruiz Didier Revel Philippe Reix Vincent Cottin Source Type: research

Cystic Fibrosis
Presse Med. 2023 Jul 27:104169. doi: 10.1016/j.lpm.2023.104169. Online ahead of print.ABSTRACTCystic fibrosis (CF) is an autosomal recessive genetic disease caused by variants in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. CFTR dysfunction results in abnormal chloride and bicarbonate transport in epithelial cells, leading to a multiorgan disease dominated by respiratory and digestive manifestations. The respiratory disease, which is characterized by airway mucus plugging, chronic bacterial infection and progressive development of bronchiectasis, may lead to chronic respirat...
Source: Presse Medicale - July 29, 2023 Category: General Medicine Authors: Isabelle Fajac Pierre-R égis Burgel Source Type: research

Primary Ciliary Dyskinesia
CONCLUSION: PCD diagnosis is complex and requires integration of history, clinical picture, imaging, functional and structural analysis of motile cilia and, if available, genetic analysis to make a definitive diagnosis. It is critical that we continue to expand our knowledge of this group of rare disorders to improve the identification of PCD patients and to develop evidence-based therapeutic approaches.PMID:37516247 | DOI:10.1016/j.lpm.2023.104171 (Source: Presse Medicale)
Source: Presse Medicale - July 29, 2023 Category: General Medicine Authors: Johanna Raidt Niki Tomas Loges Heike Olbrich Julia Wallmeier Petra Pennekamp Heymut Omran Source Type: research

Pulmonary arterial hypertension
Presse Med. 2023 Jul 27:104168. doi: 10.1016/j.lpm.2023.104168. Online ahead of print.ABSTRACTPulmonary arterial hypertension (PAH) is a rare and progressive disease characterised by remodelling of the pulmonary arteries and progressive narrowing of the pulmonary vasculature. This leads to a progressive increase in pulmonary vascular resistance and pulmonary arterial pressure and, if left untreated, to right ventricular failure and death. A correct diagnosis requires a complete work-up including right heart catheterisation performed in a specialised centre. Although our knowledge of the epidemiology, pathology and pathophy...
Source: Presse Medicale - July 29, 2023 Category: General Medicine Authors: Ath énaïs Boucly Christian Gerges Laurent Savale Xavier Ja ïs Mitja Jevnikar David Montani Olivier Sitbon Marc Humbert Source Type: research

Gain-of-function and origin of Covid19
This article is an update to the Quarterly Medical Review (QMR) devoted to the history of modern pandemics. To access this QMR contents, please go here: https://www.sciencedirect.com/journal/la-presse-medicale/vol/51/issue/3.PMID:37269978 | PMC:PMC10234839 | DOI:10.1016/j.lpm.2023.104167 (Source: Presse Medicale)
Source: Presse Medicale - June 3, 2023 Category: General Medicine Authors: Patrick Berche Source Type: research