Publications by authors named "Lenglet H"
Background: Marseille is the second largest city in France. The Marseille Fire Brigade (BMPM) is the largestunity of the French Navy. This organization is in charge of rescue operations and medical intervention in theMarseille area.
View Article and Find Full Text PDFErythropoietic protoporphyria (EPP) is a hereditary disease characterized by a deficiency in ferrochelatase (FECH) activity. FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifests as severe photosensitivity.
View Article and Find Full Text PDFBackground: Acute intermittent porphyria (AIP) is an inherited disorder of haem metabolism characterized by life-threatening acute neurovisceral attacks due to the induction of hepatic δ-aminolevulinic acid synthase 1 (ALAS1) associated with hydroxymethylbilane synthase (HMBS) deficiency. So far, the treatment of choice is hemin which represses ALAS1. The main issue in the medical care of AIP patients is the occurrence of debilitating recurrent attacks.
View Article and Find Full Text PDFAcute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incomplete penetrance. We evaluated the prevalence, penetrance and heritability of AIP, in families with the disease from the French reference center for porphyria (CFP) (602 overt patients; 1968 relatives) and the general population, using Exome Variant Server (EVS; 12 990 alleles) data.
View Article and Find Full Text PDFArticle Synopsis
- Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of the enzyme hydroxymethylbilane synthase (HMBS), affecting heme production and primarily impacting the nervous system.
- Research on Hmbs(-/-) mice revealed alterations in mitochondrial oxidative phosphorylation (OXPHOS), showing an initial adaptive response to HMBS deficiency, followed by significant changes due to phenobarbital treatment.
- Treatment with heme arginate (HA) mitigated the reduction in ATP production in skeletal muscle, indicating that both neurotoxicity from certain compounds and mitochondrial dysfunction are vital in understanding AIP's effects.
Objective: Heated and humidified high flow nasal cannula oxygen therapy (HFNC) represents a new alternative to conventional oxygen therapy that has not been evaluated in the emergency department (ED). We aimed to study its feasibility and efficacy in patients exhibiting acute respiratory failure presenting to the ED.
Methods: Prospective, observational study in a university hospital's ED.
Purpose: The purpose of this study was to determine the impact of high-flow nasal cannula oxygen (HFNC) on patients with acute respiratory failure (ARF) in comparison with conventional oxygen therapy.
Materials And Methods: This was a prospective observational study. Patients with persistent ARF despite oxygen with conventional facemask without indication for immediate intubation were treated with HFNC oxygen.