Roles and practices of general practitioners and psychiatrists in management of depression in the community

BACKGROUND: Little is known about depressed patients' profiles and how they are managed. The aim of the study is to compare GPs and psychiatrists for 1°) sociodemographic and clinical profile of their patients considered as depressed 2°) patterns of care provision. METHODS: The study design is an observational cross-sectional study on a random sample of GPs and psychiatrists working in France. Consecutive inclusion of patients seen in consultation considered as depressed by the physician. GPs enrolled 6,104 and psychiatrists 1,433 patients. Data collected: sociodemographics, psychiatric profile, environmental risk factors of depression and treatment. All clinical data were collected by participating physicians; there was no direct independent clinical assessment of patients to check the diagnosis of depressive disorder. RESULTS: Compared to patients identified as depressed by GPs, those identified by psychiatrists were younger, more often urban (10.5% v 5.4% – OR = 2.4), educated (42.4% v 25.4% – OR = 3.9), met DSM-IV criteria for depression (94.6% v 85.6% – OR = 2.9), had been hospitalized for depression (26.1% v 15.6% – OR = 2.0) and were younger at onset of depressive problems (all adjusted p < .001). No difference was found for psychiatric and somatic comorbidity, suicide attempt and severity of current depression. Compared to GPs, psychiatrists more often prescribed tricyclics and very novel antidepressants (7.8% v 2.3% OR = 5.0 and 6.8% v 3.0% OR = 3.8) with longer duration of antidepressant treatment. GPs' patients received more "non-conventional" treatment (8.8% v 2.4% OR = 0.3) and less psychotherapy (72.2% v 89.1% OR = 3.1) (all adjusted p < .001). CONCLUSION: Differences between patients mainly concerned educational level and area of residence with few differences regarding clinical profile. Differences between practices of GPs and psychiatrists appear to reflect more the organization of the French care system than the competence of providers

Bone Marrow Transplant

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.

BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. METHODS: We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. RESULTS: We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. CONCLUSIONS: We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. TRIAL REGISTRATION NUMBERS: NCT01746121 and NCT02397824.journal articleresearch support, non-u.s. gov't2016 Feb2015 10 26importe

Le piercing buccal (complications bucco-dentaires et générales)

AIX-MARSEILLE2-BU Méd/Odontol. (130552103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Vulnérabilités prénatales et enjeux éthiques de la prévention : enquête en région Paca

International audienceSome prenatal situations may be characterized as concerning on the medico-psycho-social level, leaving a risk of danger to the unborn child, raising different issues between prevention and protection, legal and justified. The objectives were to evaluate the professionals’ perceptions with respect to the most worrying prenatal situations, to assess the practices of care, and to identify potential measures for improvement

Benzodiazépines et hoquet : à propos de trois cas

Le hoquet se définit comme une contraction spasmodique du diaphragme déterminant une brusque secousse de l'abdomen et du thorax. Dans la littérature disponible, quelques médicaments sont retrouvés à l'origine de ce symptôme. Nous rapportons trois observations après administration de benzodiazépine à des sujets sains jeunes, durant deux essais cliniques. Dans la première étude (un essai de bioéquivalence entre deux formes galéniques, comprimés et solution orale), 12 sujets ont été inclus dans un essai en ouvert, contrôlé, randomisé avec deux périodes séparées par un "washout" de 7 jours. Deux sujets ont présenté un hoquet après l'administration de 2 mg de lormétazépam (solution orale). Les symptômes ont régressé en 10 et 40 minutes respectivement. Chez un sujet, la réintroduction avec le comprimé de lormétazépam a été positive. L'objectif de la deuxième étude était d'évaluer les effets d'une privation de sommeil et de la sédation induite par le lorazépam sur les mouvements oculaires saccadiques chez 12 sujets sains. Un hoquet est apparu chez un sujet, 3 h 15 après l'administration de lorazépam (2 mg) et a régressé en 45 minutes. Toutes ces observations ont été évaluées avec la méthode d'imputabilité française et discutées à la lumière des classes de médicaments le plus souvent mentionnés dans la littérature

Brevet et autres moyens de protection des inventions pharmaceutiques

Devant l'ampleur des investissements de l'industrie pharmaceutique et les risques financiers encourus par celle-ci, il est important pour les firmes pharmaceutiques de protéger au mieux leurs inventions par de multiples techniques et ce, pendant une longue période. Les brevets appliqués aux molécules sont un moyen de protection temporaire, à ces derniers brevets peuvent s'ajouter des brevets additionnels ou brevets secondaires. Enfin le certificat complémentaire de protection constitue aussi un moyen juridique de protection des brevets de médicaments. Une autre méthode, exclusive cette fois-ci de référence juridique, permet d'étendre la durée de protection des brevets de médicaments, c'est l'inversion chirale

sHSPs under temperature and pressure: The opposite behaviour of lens alpha-crystallins and yeast HSP26

International audienceSmall angle X-ray scattering was used to follow the temperature and pressure induced structural transitions of polydisperse native calf lens alpha-crystallins and recombinant human alphaB-crystallins and of monodisperse yeast HSP26. The alpha-crystallins were known to increase in size with increasing temperature, whereas HSP26 partially dissociates into dimers. SAXS intensity curves demonstrated that the average 40-mer calf alpha-crystallin converted into 80-mer in a narrow temperature range, from 60 to 69 °C, whereas the average 30-mer alphaB-crystallin was continuously transformed into 60-mer at lower temperature, from 40 to 60 °C. These temperature-induced transitions were irreversible. Similar transitions, yet reversible, could be induced with pressure in the 100 to 300 MPa pressure range. Moreover, temperature and pressure could be combined to lower the transition temperatures. On the other hand, SAXS curves recorded during pressure scans from 0.1 to 200 MPa with monodisperse 24-mer HSP26 revealed dissociation of the 24-mer into dimers. This dissociation was complete and reversible. Whatever the sHSP, a decrease of partial specific volume was found to be associated with the pressure induced quaternary structure transitions, in agreement with the hypothesis that such transitions represent a first step on the protein denaturation pathway