Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

International audienceBACKGROUND: Classical organic acidurias including methylmalonic aciduria (MMA), propionic aciduria (PA) and isovaleric aciduria (IVA) are severe inborn errors of the catabolism of branched-chain amino acids and odd-numbered chain fatty acids, presenting with severe complications. METHODS: This study investigated the long-term outcome of 80 patients with classical organic aciduria (38 with MMA, 24 with PA and 18 with IVA) by integrating clinical, radiological, biochemical and genetic data. RESULTS: Patients were followed-up for a mean of 14 years [age 3.3-46.3 years]. PA included a greater number of patients with abnormal neurological examination (37% in PA, 24% in MMA and 0% in IVA), lower psychometric scores (abnormal evaluation at age 3 years in 61% of patients with PA versus 26% in MMA and 18% in IVA) and more frequent basal ganglia lesions (56% of patients versus 36% in MMA and 17% in IVA). All patients with IVA presented a normal neurological examination and only 1/3 presented cognitive troubles. Prognosis for MMA was intermediate. Biochemical metabolite analysis excluding acute decompensations revealed significant progressive increases of glycine, alanine and glutamine particularly in PA and possibly in MMA but no correlation with neurological outcome. A significant increase of plasma methylmalonic acid was found in MMA patients with intellectual deficiency (mean level of 199 mumol/L versus 70 mumol/L, p < 0.05), with an estimated significant probability of severe outcome for average levels between birth and age 6 years above 167 mumol/L. Urinary 3-hydroxypropionate (3-HP) levels were significantly higher in PA patients with intellectual deficiency (mean level of 68.9 mumol/mmol of creatinine versus 34.6 mumol/mmol of creatinine, p < 0.01), with an estimated significant probability of severe outcome for average levels between birth and age 6 years above 55 mumol/mmol. As for molecular analysis, prognosis of MMA patients with mutations involving the MMAA gene was better compared to patients with mutations involving the MUT gene. CONCLUSION: Propionic aciduria had the most severe neurological prognosis. Our radiological and biochemical data are consistent with a mitochondrial toxicity mechanism. Follow-up plasma MMA and urinary 3-HP levels may have prognostic significance calling for greater efforts to optimize long-term management in these patients

Etat des lieux de la prise en charge de l'infection par le VIH en médecine générale au sein des Pays de la Loire en 2011: (Ressenti des médecins généralistes de la Sarthe et des patients suivis au CHU d'Angers)

ANGERS-BU Médecine-Pharmacie (490072105) / SudocSudocFranceF

Etat des lieux de la prise en charge en médecine générale des patients infectés par le VIH en Mayenne en 2012

Objectif principal : établir un état des lieux des connaissances des médecins généralistes mayennais dans la prise en charge du VIH en 2012. Objectifs secondaires : savoir si la délégation du suivi des patients vivant avec le VIH à la médecine de ville est envisageable dans ce territoire, savoir si cette délégation est souhaitée par les médecins généraliste de la Mayenne et chercher à savoir où sont suivis les patients VIH sur le plan hospitalier. Matériels et méthodes : étude transversale épidémiologique descriptive conduite d avril à juin 2012, par auto-questionnaire papier auprès des médecins généralistes mayennais, établi à partir du consensus formalisé sur la prise en charge de l infection par le VIH paru en avril 2009 et du rapport YENI 2010. Principaux résultats : Le taux de réponse des médecins était de 45,1%. 47,8% des médecins proposaient toujours et le plus souvent un dépistage systématique en population générale hors notion d exposition à risque. 50% des médecins étaient d accord pour suivre régulièrement des patients VIH. 52,8% des médecins souhaitaient participer à une formation sur le suivi des patients VIH (41,8% des hommes et 86,4% des femmes). Conclusion : il en ressort une insuffisance nette du dépistage chez les populations issues de zones endémiques pour le VIH, chez les incarcérés et chez les partenaires des femmes enceintes. Il semble nécessaire de mieux renseigner sur l existence et les délais de délivrance du traitement post-exposition. Des formations semblent souhaitées pour renforcer la pratique des missions de soins primaires et aborder les missions avancées. Mieux informer sur l'existence et le rôle des COREVIH paraît indispensable.Primary objective: to establish the level of knowledge of general practitioners in the Mayenne with regards to the treatment of HIV in 2012. Secondary objective: to establish if the treatment of HIV+ patients could be transferred to urban practices in this area, if general practitioners in the Mayenne desire this transfer and where HIV+ patients are being treated at hospital level. Materials and methods: descriptive epidemiology transversal study conducted from April to June 2012 by means of a questionnaire completed by the practitioners based on the formalised consensus regarding the treatment of HIV published in April 2009 and on the 2010 YENI report. Principal findings: the practitioner's response rate was 45,1%. 47,8% stated that the systematic detection of the overall population excluding the notion of exposure to risk was always or most often carried out by themselves. 50% of the practitioners agreed that regular follow for HIV+ patients was necessary. 52,8% of the practitioners would like to participate in training sessions for the treatment of HIV+ patients (41,8% male and 86,4% female). Conclusion: it appears that there is a critical deficiency regarding the detection of HIV amongst the population from HIV endemic areas, prisoners and pregnant women's partners. The need to be better informed on the existence of post-exposition treatment and it's release period is apparent. Training sessions seem to be desired in order to reinforce the use of primary care missions and broach the idea of advanced missions. Better communication on the existence and the role of the COREVIH seems to be indispensable.ANGERS-BU Médecine-Pharmacie (490072105) / SudocSudocFranceF

Infections ostéo-articulaires de l'enfant au CHU de Rennes (évaluation d'un protocole de prise en charge, analyse des données de la littérature, propositions diagnostiques et thérapeutiques)

RENNES1-BU Santé (352382103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Optimization of the expression of levansucrase L17 in recombinant E. coli

Levansucrases synthesize levans and fructooligosaccharides, which are of interest in the food and pharmaceutical industry. Leuconostoc mesenteroides Lm 17 produces levansucrase of about 120 kDa. The encoding gene from this strain was cloned and expressed in Escherichia coli BL21(DE3). The cloned gene encodes a 1022 amino acids long levansucrase with 96% identity to levansucrase LevS from L. mesenteroides NRRL B-512F strain. The induction and expression of the levansucrase gene were performed at temperatures between 15 °C and 37 °C, and concentration of the inducer isopropyl-β-D-thiogalactopyranoside from 0.1 to 2.0 (mmol/L)-1. We report for the first time recombinant expression of a levansucrase gene at a low temperature of induction, after cell biomass accumulation at 37 °C. The highest enzyme activity of 1.90 (U/mg)-1 was measured in TB medium at 18 °C temperature of induction, and concentration of the inducer from 0.1 to 1.0 (mmol/L)-1. The in situ analysis of the purified enzyme showed an active band of about 120 kDa, similar to the one produced by the native strain. The purified enzyme has a temperature optimum at 35 °C, pH optimum at 5.5, and Km = 64 (mmol/L)-1 of sucrose

Interest of laboratory database analysis for assessing the total number of bacterial meningitis managed in a French hospital

International audienc

COVID-19 vaccines surveillance in France: a global response to a major national challenge

International audienceNo abstract availabl

Colonization with extended-spectrum beta-lactamase-producing Enterobacteriaceae in unaccompanied refugee minors on arrival in France

International audienceAbstract Highlight. In a prospective observational study, we recorded that 25.7% of 139 unaccompanied migrant minors arriving in Angers, Western France were colonized with extended-spectrum β-lactamase producing Enterobacteriaceae (ESBL-PE). Concurrently, we highlighted that some minors had acquired ESBL-PE after their arrival in France

On the Nose: Disseminated Mucormycosis"✯✯✯.

International audienceNo abstract availabl

Biodiversity of Exopolysaccharides Produced from Sucrose by Sourdough Lactic Acid Bacteria

The distribution and diversity of natural exopolysaccharides (EPS) produced from sucrose by thirty heterofermentative lactic acid bacteria strains from French traditional sourdoughs was investigated. The EPS production was found to be related to glucansucrase and fructansucrase extracellular activities. Depending on the strain, soluble and/or cell-associated glycansucrases were secreted. Structural characterization of the polymers by 1H and 13C NMR spectroscopy analysis further demonstrated a high diversity of EPS structures. Notably, we detected strains that synthesize glucans showing amazing variations in the amount of α-(1→2), α-(1→3) and α-(1→6) linkages. The representation of Leuconostoc strains which produce putative alternan polymers and α-(1→2) branched polymers was particularly high. The existence of glucan- and fructansucrase encoding genes was also confirmed by PCR detection. Sourdough was thus demonstrated to be a very attractive biotope for the isolation of lactic acid bacteria producing novel polymers which could find interesting applications such as texturing agent or prebiotics