Équipement médical des refuges de montagne gardés de France et formation aux premiers secours de leur gardien (une étude nationale descriptive)

Objectifs : L objectif principal était de dresser un état des lieux national, inexistant à ce jour, des capacités humaines et techniques à répondre à un problème médical au refuge. Type d étude : Nous avons conduit une étude descriptive prospective au printemps 2013 au travers d un questionnaire auto-administré auprès de l ensemble des gardiens. Matériel et méthode : Un taux de réponse de 69,5% a permis l analyse d un échantillon représentatif de 156 refuges. L analyse a porté sur la trousse à pharmacie, le défibrillateur, et la formation des gardiens. Résultats : Une typologie des refuges a été établie. Il existait une corrélation entre altitude et fréquentation des refuges (coefficient de 0,34 : p-value < 0.0001). Le taux d équipement en trousse à pharmacie était de 95% et il existait une tendance à l augmentation de son utilisation avec l altitude. Le taux d équipement en défibrillateur était de 26%. Les refuges de plus de 2400 mètres (OR 3,095 ; 1,079 à 8,877 ; p=0,036) et les plus fréquentés (OR 1,707 ; IC 1,156 à 2,520 : p=0,007) étaient les mieux équipés. Quatre-vingts six pour cent des gardiens étaient formés et 44 % avaient suivi une formation pratique dans les 12 derniers mois. Conclusion : L équipement médical et la formation des gardiens étaient importants mais hétérogène. L adaptation de la trousse à pharmacie à la typologie des refuges établie est nécessaire et doit être évaluée. La formation mériterait d être précisée sur son adéquation avec les problématiques du milieu montagnard en articulant les questions de prévention et de secours.Objective: The goal of this study was to establish a so far nonexistent picture of technical and human capacities to deal with medical situations. Methods: A descriptive prospective study was conducted from April to June 2013 by sending questionnaires to all hut keepers. A 69.5 % participation rate enabled us to analyse a representative sample of 156 mountain huts. Analysis covered first aid kits, defibrillators, and first aid training of hut keepers. Results: Analysis of altitude and use of huts distinguished high altitude and medium altitude huts and technical huts. First aid kit equipment rate was 95 % and there was an increasing trend of its use in higher altitudes (p=0,004). Defibrillator equipment rate was 26 %. The better equipped huts were those above 2400 meters (OR 3,095; 1,079 à 8,877; p=0,036) and the busier (OR 1,707; IC 1,156 à 2,520: p=0,007). Eighty-six percent of the hut keepers were trained in first aid and 44 % were trained during the last 12 months. Conclusions: Heterogeneous and extensive medical equipment has been described. The improvement of first aid kit according to the established typology is necessary and has to be assessed. Hut keepers' training, focusing on prevention and first aid, should be clarified for the specific mountain environment.GRENOBLE1-BU Médecine pharm. (385162101) / SudocSudocFranceF

Diversité génétique de l’allèle O dans des populations berbères

Nous avons analysé le polymorphisme de l’allèle O chez 33 individus non apparentés de phénotype O d’une population berbère de l’oasis de Siwa en Égypte. Malgré le faible nombre d’individus étudiés, les résultats montrent un polymorphisme important de l’allèle O. Cette population a probablement eu des contacts avec d’autres populations malgré son isolement géographique. Siwa fut une étape importante pour les caravanes parcourant le désert ; elle fut soumise à de nombreux raids et conflits. Les fréquences des allèles O01 et O02 sont similaires à celles retrouvées dans une population berbère de l’Atlas marocain (Amizmiz). Trois nouveaux allèles ont été mis en évidence dans la population de Siwa. Ces résultats confirment tout l’intérêt d’étudier le polymorphisme moléculaire de l’allèle O pour mieux comprendre l’histoire génétique des populations.We analysed the O allele polymorphism in a sample of 33 Berbers from the Siwa population, all of them of phenotype O and unrelated to one another. The results show an important genetic diversity considering the limited number of individuals under study. The population must have been in contact with other people in spite of the geographical and cultural isolation. Siwa was an important stopping place for caravans in the desert: it was subjected to many raids and armed conflicts. The frequencies of the O01 and O02 alleles are similar to those in the Amizmiz Berbers in Morocco. Three new alleles were discovered in the Siwa population. These results confirm the importance of studying the molecular polymorphism of the O allele to better understand the genetic history of populations

Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

<p>Abstract</p> <p>Background</p> <p>The X-linked <it>SRPX2 </it>gene encodes a Sushi Repeat-containing Protein of unknown function and is mutated in two disorders of the Rolandic/Sylvian speech areas. Since it is linked to defects in the functioning and the development of brain areas for speech production, <it>SRPX2 </it>may thus have participated in the adaptive organization of such brain regions. To address this issue, we have examined the recent molecular evolution of the <it>SRPX2 </it>gene.</p> <p>Results</p> <p>The complete coding region was sequenced in 24 human X chromosomes from worldwide populations and in six representative nonhuman primate species. One single, fixed amino acid change (R75K) has been specifically incorporated in human SRPX2 since the human-chimpanzee split. The R75K substitution occurred in the first sushi domain of SRPX2, only three amino acid residues away from a previously reported disease-causing mutation (Y72S). Three-dimensional structural modeling of the first sushi domain revealed that Y72 and K75 are both situated in the hypervariable loop that is usually implicated in protein-protein interactions. The side-chain of residue 75 is exposed, and is located within an unusual and SRPX-specific protruding extension to the hypervariable loop. The analysis of non-synonymous/synonymous substitution rate (Ka/Ks) ratio in primates was performed in order to test for positive selection during recent evolution. Using the branch models, the Ka/Ks ratio for the human branch was significantly different (p = 0.027) from that of the other branches. In contrast, the branch-site tests did not reach significance. Genetic analysis was also performed by sequencing 9,908 kilobases (kb) of intronic <it>SRPX2 </it>sequences. Despite low nucleotide diversity, neither the HKA (Hudson-Kreitman-Aguadé) test nor the Tajima's D test reached significance.</p> <p>Conclusion</p> <p>The R75K human-specific variation occurred in an important functional loop of the first sushi domain of SRPX2, indicating that this evolutionary mutation may have functional importance; however, positive selection for R75K could not be demonstrated. Nevertheless, our data contribute to the first understanding of molecular evolution of the human <it>SPRX2 </it>gene. Further experiments are now required in order to evaluate the possible consequences of R75K on SRPX2 interactions and functioning.</p

Large expert-curated database for benchmarking document similarity detection in biomedical literature search

Document recommendation systems for locating relevant literature have mostly relied on methods developed a decade ago. This is largely due to the lack of a large offline gold-standard benchmark of relevant documents that cover a variety of research fields such that newly developed literature search techniques can be compared, improved and translated into practice. To overcome this bottleneck, we have established the RElevant LIterature SearcH consortium consisting of more than 1500 scientists from 84 countries, who have collectively annotated the relevance of over 180 000 PubMed-listed articles with regard to their respective seed (input) article/s. The majority of annotations were contributed by highly experienced, original authors of the seed articles. The collected data cover 76% of all unique PubMed Medical Subject Headings descriptors. No systematic biases were observed across different experience levels, research fields or time spent on annotations. More importantly, annotations of the same document pairs contributed by different scientists were highly concordant. We further show that the three representative baseline methods used to generate recommended articles for evaluation (Okapi Best Matching 25, Term Frequency-Inverse Document Frequency and PubMed Related Articles) had similar overall performances. Additionally, we found that these methods each tend to produce distinct collections of recommended articles, suggesting that a hybrid method may be required to completely capture all relevant articles. The established database server located at https://relishdb.ict.griffith.edu.au is freely available for the downloading of annotation data and the blind testing of new methods. We expect that this benchmark will be useful for stimulating the development of new powerful techniques for title and title/abstract-based search engines for relevant articles in biomedical research.Peer reviewe

The Cynomolgus Macaque MHC Polymorphism in Experimental Medicine

International audienceAmong the non-human primates used in experimental medicine, cynomolgus macaques (Macaca fascicularis hereafter referred to as Mafa) are increasingly selected for the ease with which they are maintained and bred in captivity. Macaques belong to Old World monkeys and are phylogenetically much closer to humans than rodents, which are still the most frequently used animal model. Our understanding of the Mafa genome has progressed rapidly in recent years and has greatly benefited from the latest technical advances in molecular genetics. Cynomolgus macaques are widespread in Southeast Asia and numerous studies have shown a distinct genetic differentiation of continental and island populations. The major histocompatibility complex of cynomolgus macaque (Mafa MHC) is organized in the same way as that of human, but it differs from the latter by its high degree of classical class I gene duplication. Human polymorphic MHC regions play a pivotal role in allograft transplantation and have been associated with more than 100 diseases and/or phenotypes. The Mafa MHC polymorphism similarly plays a crucial role in experimental allografts of organs and stem cells. Experimental results show that the Mafa MHC class I and II regions influence the ability to mount an immune response against infectious pathogens and vaccines. MHC also affects cynomolgus macaque reproduction and impacts on numerous biological parameters. This review describes the Mafa MHC polymorphism and the methods currently used to characterize it. We discuss some of the major areas of experimental medicine where an effect induced by MHC polymorphism has been demonstrated

Etude de facteurs génétiques susceptibles d'influencer la réponse au traitement antirétroviral de patients infectés par le VIH (etude des allèles CCR5^32,CCR2-V641,SDF1-3'A, CX3CR1-V2491, CX3CR1-T280M et GHRd3)

BORDEAUX2-BU Santé (330632101) / SudocSudocFranceF

Etude de facteurs génétiques susceptibles d'influencer l'infection par les lentivirus

TOULOUSE3-BU Sciences (315552104) / SudocSudocFranceF

A novel cis AB allele derived from a B allele through a single point mutation

International audienceBackground: The very rare cis AB phenotype, first described in 1964, corresponds to a special ABO allele encoding a glycosyltransferase that is capable of synthesizing both A and B substances. Until now, gene sequences of only two cis AB alleles were partially characterized. One involved the A1*02 allele with a single nonsynonymous substitution at codon 268, whereas the second arose from a single nonsynonymous substitution at codon 266 in exon 7 of a B1*01 allele.Study design and methods: A cis AB phenotype was identified in a French family. The serologic characteristics of this phenotype were determined. The cis AB allele was characterized from exon 6 to exon 7 by cloning and sequencing.Results: The cis AB.tlse(*)01 allele is identical to B(1*)01 except for a single point mutation at nucleotide position 700, where a T replaces a C, implying a change of amino acid 234 (the B(1*)01 proline being replaced by a serine).Conclusion: The cis AB.tlse(*)01 allele clearly differs from all previously reported ABO, including the two previous cis AB described