Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

The study of Drosophila neurodegenerative mutants combined with genetic and biochemical analyses lead to the identification of multiple complex mutations in 60 patients with a novel form of ataxia/leukoencephalopathy

Erratum to: Methods for evaluating medical tests and biomarkers

[This corrects the article DOI: 10.1186/s41512-016-0001-y.]

Evidence synthesis to inform model-based cost-effectiveness evaluations of diagnostic tests: a methodological systematic review of health technology assessments

Background: Evaluations of diagnostic tests are challenging because of the indirect nature of their impact on patient outcomes. Model-based health economic evaluations of tests allow different types of evidence from various sources to be incorporated and enable cost-effectiveness estimates to be made beyond the duration of available study data. To parameterize a health-economic model fully, all the ways a test impacts on patient health must be quantified, including but not limited to diagnostic test accuracy. Methods: We assessed all UK NIHR HTA reports published May 2009-July 2015. Reports were included if they evaluated a diagnostic test, included a model-based health economic evaluation and included a systematic review and meta-analysis of test accuracy. From each eligible report we extracted information on the following topics: 1) what evidence aside from test accuracy was searched for and synthesised, 2) which methods were used to synthesise test accuracy evidence and how did the results inform the economic model, 3) how/whether threshold effects were explored, 4) how the potential dependency between multiple tests in a pathway was accounted for, and 5) for evaluations of tests targeted at the primary care setting, how evidence from differing healthcare settings was incorporated. Results: The bivariate or HSROC model was implemented in 20/22 reports that met all inclusion criteria. Test accuracy data for health economic modelling was obtained from meta-analyses completely in four reports, partially in fourteen reports and not at all in four reports. Only 2/7 reports that used a quantitative test gave clear threshold recommendations. All 22 reports explored the effect of uncertainty in accuracy parameters but most of those that used multiple tests did not allow for dependence between test results. 7/22 tests were potentially suitable for primary care but the majority found limited evidence on test accuracy in primary care settings. Conclusions: The uptake of appropriate meta-analysis methods for synthesising evidence on diagnostic test accuracy in UK NIHR HTAs has improved in recent years. Future research should focus on other evidence requirements for cost-effectiveness assessment, threshold effects for quantitative tests and the impact of multiple diagnostic tests

Erratum to: Methods for evaluating medical tests and biomarkers

[This corrects the article DOI: 10.1186/s41512-016-0001-y.]

COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study

Background: The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms. Methods: International, prospective observational study of 60 109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms. Results: ‘Typical’ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (≤ 18 years: 69, 48, 23; 85%), older adults (≥ 70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each P < 0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country. Interpretation: This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men

Photometrie stellaire dans les champs encombres pour l'etude des galaxies proches

SIGLECNRS T Bordereau / INIST-CNRS - Institut de l'Information Scientifique et TechniqueFRFranc

Contribution à l'étude des silencieux dissipatifs (effets des vibrations de structure, effets de l'écoulement)

Cette thèse s inscrit dans le cadre du projet européen FLODAC (FLOw Duct ACoustic) et s intéresse à deux aspects des silencieux dissipatifs. La chambre d expansion traitée est couramment utilisée pour atténuer des sons en conduit. On propose ici un modèle approché pour un tel système dans lequel les variations radiales de la pression et de la vitesse dans l air et dans le matériau poreux sont décrites par des polynômes. Ces approximations permettent le calcul des coefficients de transmission et de réflexion qui caractérisent tout à fait les propriétés acoustiques du système à basse fréquence. Des résultats de mesures montrent la validité d une telle approche. La présence d un écoulement uniforme dans le conduit d air est introduite dans le modèle. L accord de celui-ci avec des résultats expérimentaux est satisfaisant pour les coefficients de transmission. L étude montre que pour des nombres de Mach inférieurs à 0.15, l effet de l écoulement est déjà important. On note en particulier une diminution du pouvoir atténuant de la chambre dans le sens de l écoulement. Le second aspect du travail s intéresse à l effet des vibrations de la structure du matériau poreux sur l atténuation d un conduit traité de longueur infinie. Ces travaux s appuient en partie sur ceux de E. Lesquins (SNECMA) et de B. Brouard (LAUM). Le matériaux poreux est décrit par la désormais classique théorie de Biot. Différents modèles sont proposés. La géométrie du conduit peut être bidimensionnelle ou circulaire et deux méthodes sont utilisées pour résoudre le problème, i.e. trouver les constantes de propagation des différents modes. Des simulations numériques montrent que sous certaines conditions les vibrations de structure peuvent provoquer une atténuation importante en basse fréquence. Sous d autres conditions elles peuvent entraîner une diminution de cette dernière. Une première étude expérimentale montre la validité de ces travaux.This thesis is a part of the European project FLODAC (FLOw Duct ACoustic) and is dealing with two aspects of dissipative silencers. The expansion chamber is commonly used as a dissipative silencer. Here we propose an approximate model for such a system, in which the radial variations of the pressure and velocity in the air and in the porous lining are described by polynomials. These approximations allow the calculation of the reflexion and transmission coefficients which completely descibe the acoustic properties of the chamber at low frequency. Experimental results show the validity of such an approach. The presence of uniform flow in the air duct is introduced in the model. Agreement with experimental results is satisfying for the transmission coefficients. The study shows that for Mach numbers lower than 0.15, the effect of flow is already important. In particular, we note that the attenuation is lower in the sense of flow. The second aspect of the work is dealing with the effect of the vibration of the structure of the porous lining on the attenuation of a duet of infinite length. This part is partly using the work of E. Lesquins (SNECMA) and B. Brouard (LAUM). The porous material is described by the classical Biot theory. Several models are proposed. The geometry of the duct can be two-dimensional or circula rand two methods are investigated in order to solve the problem, i.e. determining the propagation constant for the different modes. Numerical simulations show that under certain circumstances structural vibrations can produce an important low frequency attenuation whereas under other circumstances the latter is lower. A first experimental study shows the validity of this work.LE MANS-BU Sciences (721812109) / SudocSudocFranceF

The Binary Star DataBase BDB v3.0

International audienceThe problems and solutions of the Binary Star DataBase are discussed. The release of the third version of the database is announced