651 research outputs found
The Role of Error-Prone Alternative Non-Homologous End-Joining in Genomic Instability in Cancer
Results of a survey among GP practices on how they manage patient safety aspects related to point-of-care testing in every day practice
Background
Point-of-care (POC) tests are devices or test strips that can be used near or at the site where care is delivered to patients, enabling a relatively fast diagnosis. Although many general practitioners (GPs) in the Netherlands are using POC tests in their practice, little is known on how they manage the corresponding patient safety aspects.
Methods
To obtain information on this aspect, an invitation to participate in a web-based questionnaire was sent to a random sample of 750 GP practices. Of this sample 111 GP practices returned a complete questionnaire. Data was analysed by using descriptive statistics.
Results
Results show that there is not always attention for quality control measures such as checking storage conditions, executing calibration, and maintenance. In addition, universal hygienic measures, such as washing hands before taking a blood sample, are not always followed. Refresher courses on the use of POC tests are hardly organized. Only a few of the GPs contact the manufacturer of the device when a device failure occurs. Well-controlled aspects include patient identification and actions taken when ambiguous test results are obtained.
Conclusions
We observed a number of risks for errors with POC tests in GP practices that may be reduced by proper training of personnel, introduction of standard operating procedures and measures for quality control and improved hygiene. To encourage proper use of POCT in general practices, a national POCT guideline, dedicated to primary care and in line with ISO standards, should be introduce
LE GENRE A L'INTERFACE DES SCIENCES. LA VOIX TROUBLEE : APPROCHE DU GENRE VOCAL PAR SON OPACITE DANS LA VOIX DES FEMMES ATTEINTES D'UN OEDEME DE REINKE
1.1. PROBLEMATIQUE Le genre fait partie des informations que transmet la voix. Celle-ci peut suffire Ă identifier le genre du locuteur dans des circonstances oĂč les interlocuteurs ne se voient pas, par exemple au tĂ©lĂ©phone. Toutefois, cette identification n'est pas garantie pour au moins deux raisons : bien qu'il reflĂšte partiellement une distinction biologique entre les deux sexes, le genre fait surtout l'objet d'une construction sociale et culturelle complexe comme l'ont montrĂ© plus de quarante ans de travaux en sciences sociales ; par ailleurs, certaines pathologies de la voix, comme l'oedĂšme de Reinke, modifient ses caractĂ©ristiques acoustiques au point de brouiller parfois l'identification du genre. Ce brouillage fait l'objet d'une plainte de la part des femmes atteintes de cette pathologie. Ce projet se propose de rassembler une mĂ©decin spĂ©cialiste de la voix, une phonĂ©ticienne et une sociolinguiste spĂ©cialiste du genre pour explorer l'interfĂ©rence du pathologique et du culturel dans la transmission du genre par la voix. Nous procĂ©derons Ă des expĂ©riences de production et de perception de la voix sur une population libanaise parlant l'arabe libanais et le français. Nous croiserons les rĂ©sultats de ces expĂ©riences avec ceux d'une enquĂȘte sociolinguistique pour cerner quelles sont les critĂšres socio-culturels qui interviennent dans la catĂ©gorisation genrĂ©e des voix entendues
ModÚles de prédiction pour l'évaluation génomique des bovins laitiers français (application aux races Holstein et Montbéliarde)
L'Ă©volution rapide des techniques de sĂ©quençage et de gĂ©notypage soulĂšvent de nouveaux dĂ©fis dans le dĂ©veloppement des mĂ©thodes de sĂ©lection pour les animaux d Ă©levage. Par comparaison de sĂ©quences, il est Ă prĂ©sent possible d'identifier des sites polymorphes dans chaque espĂšce afin de baliser le gĂ©nome par des marqueurs molĂ©culaires appelĂ©s SNP (Single Nucleotide Polymorphism). Les mĂ©thodes de sĂ©lection des animaux Ă partir de cette information molĂ©culaire nĂ©cessitent une reprĂ©sentation complĂšte des effets gĂ©nĂ©tiques. Meuwissen et al. (2001) ont introduit le concept de sĂ©lection gĂ©nomique en proposant de prĂ©dire simultanĂ©ment tous les effets des rĂ©gions marquĂ©es puis de construire un index "gĂ©nomique" en sommant les effets de chaque rĂ©gion. Le challenge dans l Ă©valuation gĂ©nomique est de disposer de la meilleure mĂ©thode de prĂ©diction afin d obtenir des valeurs gĂ©nĂ©tiques prĂ©cises pour une sĂ©lection efficace des animaux candidats. L objectif gĂ©nĂ©ral de cette thĂšse est d'explorer et d Ă©valuer de nouvelles approches gĂ©nomiques capables de prĂ©dire des dizaines de milliers d'effets gĂ©nĂ©tiques, sur la base des phĂ©notypes de centaines d'individus. Elle s inscrit dans le cadre du projet ANR AMASGEN dont le but est d Ă©tendre la sĂ©lection assistĂ©e par marqueurs, utilisĂ©e jusqu Ă lors chez les bovins laitiers français, et de dĂ©velopper une mĂ©thode de prĂ©diction performante. Pour cela, un panel variĂ© de mĂ©thodes est explorĂ© en estimant leurs capacitĂ©s prĂ©dictives. Les mĂ©thodes de rĂ©gression PLS (Partial Least Squares) et sparse PLS, ainsi que des approches bayĂ©siennes (LASSO bayĂ©sien et BayesCp) sont comparĂ©es Ă deux mĂ©thodes usuelles en amĂ©lioration gĂ©nĂ©tique : le BLUP basĂ© sur l information pedigree et le BLUP gĂ©nomique basĂ© sur l information des SNP. Ces mĂ©thodologies fournissent des modĂšles de prĂ©diction efficaces mĂȘme lorsque le nombre d observations est trĂšs infĂ©rieur au nombre de variables. Elles reposent sur la thĂ©orie des modĂšles linĂ©aires mixtes gaussiens ou les mĂ©thodes de sĂ©lection de variables, en rĂ©sumant l information massive des SNP par la construction de nouvelles variables. Les donnĂ©es Ă©tudiĂ©es dans le cadre de ce travail proviennent de deux races de bovins laitiers français (1 172 taureaux de race MontbĂ©liarde et 3 940 taureaux de race Holstein) gĂ©notypĂ©s sur environ 40 000 marqueurs SNP polymorphes. Toutes les mĂ©thodes gĂ©nomiques testĂ©es ici produisent des Ă©valuations plus prĂ©cises que la mĂ©thode basĂ©e sur la seule information pedigree. On observe un lĂ©ger avantage prĂ©dictif des mĂ©thodes bayĂ©siennes sur certains caractĂšres mais elles sont cependant trop exigeantes en temps de calcul pour ĂȘtre appliquĂ©es en routine dans un schĂ©ma de sĂ©lection gĂ©nomique. L avantage des mĂ©thodes de sĂ©lection de variables est de pouvoir faire face au nombre toujours plus important de donnĂ©es SNP. De plus, elles sont capables de mettre en Ă©vidence des ensembles rĂ©duits de marqueurs, identifiĂ©s sur la base de leurs effets estimĂ©s, c est-Ă -dire ayant un impact important sur les caractĂšres Ă©tudiĂ©s. Il serait donc possible de dĂ©velopper une mĂ©thode de prĂ©diction des valeurs gĂ©nomiques sur la base de QTL dĂ©tectĂ©s par ces approches.The rapid evolution in sequencing and genotyping raises new challenges in the development of methods of selection for livestock. By sequence comparison, it is now possible to identify polymorphic regions in each species to mark the genome with molecular markers called SNPs (Single Nucleotide Polymorphism). Methods of selection of animals from genomic information require the representation of the molecular genetic effects. Meuwissen et al. (2001) introduced the concept of genomic selection by predicting simultaneously all the effects of the markers. Then a genomic index is built summing the effects of each region. The challenge in genomic evaluation is to find the best prediction method to obtain accurate genetic values of candidates. The overall objective of this thesis is to explore and evaluate new genomic approaches to predict tens of thousands of genetic effects, based on the phenotypes of hundreds of individuals. It is part of the ANR project AMASGEN whose aim is to extend the marker-assisted selection, used in French dairy cattle, and to develop an accurate method of prediction. A panel of methods is explored by estimating their predictive abilities. The PLS (Partial Least Squares) and sparse PLS regressions and Bayesian approaches (Bayesian LASSO and BayesCp) are compared with two current methods in genetic improvement: the BLUP based on pedigree information and the genomic BLUP based on SNP markers. These methodologies are effective even when the number of observations is smaller than the number of variables. They are based on the theory of Gaussian linear mixed models or methods of variable selection, summarizing the massive information of SNP by new variables. The datasets come from two French dairy cattle breeds (1172 MontbĂ©liarde bulls and 3940 Holstein bulls) genotyped with 40 000 polymorphic SNPs. All genomic methods give more accurate estimates than the method based on pedigree information only. There is a slight predictive advantage of Bayesian methods on some traits but they are still too demanding in computation time to be applied routinely in a genomic selection scheme. The advantage of variable selection methods is to cope with the increasing number of SNP data. In addition, they are able to extract reduced sets of markers based of their estimated effects, that is to say, with a significant impact on the trait studied. It would be possible to develop a method to predict genomic values on the basis of QTL detected by these approaches.TOULOUSE-ENSAT-Documentation (315552324) / SudocSudocFranceF
Patient socioeconomic determinants of the choice of generic versus brand name drugs in the context of a reference price system: evidence from Belgian prescription data
The generic reference price system (RPS) can impose a financial penalty for patients using a brand name drug instead of its generic alternative. Previous studies on the impact of the RPS have not considered the potentially differential effect of using generic alternatives for individuals with a different socioeconomic background. However, patientsâ characteristics might determine their overall knowledge of the existence of the system and thus of the financial burden to which they may be confronted. The association between patientsâ characteristics and the use of generic drugs versus brand name drugs was analyzed for ten highly prescribed pharmaceutical molecules included in the Belgian generic reference price system. Prescriptions were obtained from a 10% sample of all general practitioners in 2008 (corresponding to 120,670 adult patients and 368,101 prescriptions). For each pharmaceutical molecule, logistic regression models were performed, with independent variables for patient socioeconomic background at the individual level (work status, having a guaranteed income and being entitled to increased reimbursement of co-payments) and at the level of the neighborhood (education). The percentage of generic prescriptions ranged from 24.7 to 76.4%, and the mean reference supplement in 2008 ranged from âŹ4.3 to âŹ37.8. For seven molecules, higher use of a generic alternative was associated with either having a guaranteed income, with receiving increased reimbursement of co-payments or with living in areas with the lowest levels of education. Globally, results provided evidence that the generic RPS in Belgium does not lead to a higher financial burden on individuals from a low socioeconomic background
ModĂšle dâĂ©coulement autour dâune prothĂšse valvulaire pour le diagnostic clinique
L'Ă©valuation clinique de la performance
valvulaire est basée sur la mesure de la vitesse maximale dans le jet transvalvulaire.
Un modÚle théorique basé sur la modélisation de profils minces et la théorie des
écoulements potentiels est développé pour accéder aux vitesses dans ce jet. Les
résultats sont validés par des simulations numériques. Ce modÚle présente un excellent
rapport  précision des résultats / temps CPU. On montrera comment son utilisation permet
d'améliorer le diagnostic clinique
Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes
The recent availability of the chicken genome sequence poses the question of whether there are human protein-coding genes conserved in chicken that are currently not included in the human gene catalog. Here, we show, using comparative gene finding followed by experimental verification of exon pairs by RT-PCR, that the addition to the multi-exonic subset of this catalog could be as little as 0.2%, suggesting that we may be closing in on the human gene set. Our protocol, however, has two shortcomings: (i) the bioinformatic screening of the predicted genes, applied to filter out false positives, cannot handle intronless genes; and (ii) the experimental verification could fail to identify expression at a specific developmental time. This highlights the importance of developing methods that could provide a reliable estimate of the number of these two types of gene
Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis
Mutations in ADAMTS2, a procollagen amino-propeptidase, cause severe skin fragility, designated as dermatosparaxis in animals, and a subtype of the Ehlers-Danlos syndrome (dermatosparactic type or VIIC) in humans. Not all collagen-rich tissues are affected to the same degree, which suggests compensation by the ADAMTS2 homologs ADAMTS3 and ADAMTS14. In situ hybridization of Adamts2, Adamts3 and Adamts14, and of the genes encoding the major. brillar collagens, Col1a1, Col2a1 and Col3a1, during mouse embryogenesis, demonstrated distinct tissue-specific, overlapping expression patterns of the protease and substrate genes. Adamts3, but not Adamts2 or Adamts14, was co-expressed with Col2a1 in cartilage throughout development, and with Col1a1 in bone and musculotendinous tissues. ADAMTS3 induced procollagen I processing in dermatosparactic. broblasts, suggesting a role in procollagen I processing during musculoskeletal development. Adamts2, but not Adamts3 or Adamts14, was co-expressed with Col3a1 in many tissues including the lungs and aorta, and Adamts2(-/-) mice showed widespread defects in procollagen III processing. Adamts2(-/-) mice had abnormal lungs, characterized by a decreased parenchymal density. However, the aorta and collagen fibrils in the aortic wall appeared normal. Although Adamts14 lacked developmental tissue-specific expression, it was co-expressed with Adamts2 in mature dermis, which possibly explains the presence of some processed skin procollagen in dermatosparaxis. The data show how evolutionarily related proteases with similar substrate preferences may have distinct biological roles owing to tissue specific gene expression, and provide insights into collagen biosynthesis and the pathobiology of dermatosparaxis
Cartographie Automatique des Zones InondĂ©es et Evaluation des Dommages dans le District dâAbidjan Ă l'Aide de l'Imagerie Satellitaire Radar Sentinel-1 Depuis Google Earth Engine
La connaissance de la localisation et de l'Ă©tendue des zones inondĂ©es dans le District dâAbidjan au sud de la CĂŽte d'Ivoire, frĂ©quemment affectĂ©e par les inondations pendant la saison des pluies et avec une rĂ©ponse diffĂ©rente des prĂ©cipitations et du ruissellement dans chacun de ses sous-bassins, a des implications importantes pour la gestion du risque. L'objectif de cette Ă©tude est de gĂ©nĂ©rer automatiquement des cartes de l'Ă©tendue des inondations dans le district d'Abidjan et dâĂ©valuer les zones touchĂ©es, grĂące au potentiel du cloud, aux algorithmes d'apprentissage automatique et Ă l'utilisation de donnĂ©es provenant de divers capteurs de tĂ©lĂ©dĂ©tection optique Sentinel-2, SAR Sentinel-1 et MNT Polsar. Lâapproche mĂ©thodologique a consistĂ© Ă implĂ©menter dans Google Earth Engine un script qui permet d'abord de cartographier avec prĂ©cision l'Ă©tendue des zones inondĂ©es en utilisant une mĂ©thode de dĂ©tection des changements basĂ©e sur les donnĂ©es Sentinel-1 (SAR) avant et aprĂšs une crue spĂ©cifique. Ensuite, les diffĂ©rentes classes d'enjeux (telles que les cultures, les zones habitĂ©es, les bĂątiments, les routes et la densitĂ© de la population) ont Ă©tĂ© extraites Ă partir de diverses sources de donnĂ©es gratuites et superposĂ©es aux zones inondĂ©es cartographiĂ©es, permettant ainsi d'Ă©valuer la superficie des zones touchĂ©es. De plus, une interface web a Ă©tĂ© conçue Ă l'aide des packages de Google Earth Engine, offrant Ă l'utilisateur la possibilitĂ© de visualiser l'Ă©tendue des zones inondĂ©es et les cartes des enjeux de surfaces affectĂ©s, avec une estimation statistique, pour une date donnĂ©e dans l'intervalle allant de 2013 Ă la date actuelle. La cartographie des zones inondĂ©es Ă la date du 20 juin 2020 a rĂ©vĂ©lĂ© une superficie totale de 21 763,05 hectares de zones inondĂ©es dans le District d'Abidjan. Une estimation des dĂ©gĂąts causĂ©s par cette crue du 20 juin 2020 indique que 13 170,17 hectares d'enjeux ont Ă©tĂ© affectĂ©s en moyenne, ce qui reprĂ©sente 60,5 % des zones inondĂ©es. Cette rĂ©partition se dĂ©compose en 7 875,06 hectares (soit 36,2 %) de terres agricoles touchĂ©es et 5 295,11 hectares (soit 24,3 %) de zones urbaines touchĂ©es, impactant en moyenne 64 877 personnes. Les rĂ©sultats de cette Ă©tude ont permis de constater que la partie centrale de la zone d'Ă©tude, au-dessus de la lagune, prĂ©sente le plus grand potentiel de risque d'inondation en raison de la morphologie du terrain et de la vulnĂ©rabilitĂ© Ă©levĂ©e des zones construites qui occupent la plaine inondable.
Understanding the location and extent of flooded areas in the Abidjan District in southern CĂŽte d'Ivoire, which is frequently affected by floods during the rainy season, and with a unique response to precipitation and runoff in each of its sub-basins, has significant implications for risk management. The objective of this study is to automatically generate maps of flood extent in the Abidjan district and assess the affected areas, leveraging the potential of the cloud, machine learning algorithms, and data from various optical remote sensing sensors, including Sentinel-2, Sentinel-1 SAR, and Polsar DTM. The methodological approach involved implementing a script in Google Earth Engine that first accurately maps the extent of flooded areas using a change detection method based on Sentinel-1 (SAR) data before and after a specific flood event. Then, various asset classes (such as crops, inhabited areas, buildings, roads, and population density) were extracted from various free data sources and overlaid on the mapped flooded areas, allowing for an assessment of the affected area. Additionally, a web interface was designed using Google Earth Engine packages, providing users with the ability to visualize the extent of flooded areas and maps of affected asset classes, along with statistical estimates, for a given date within the range from 2013 to the present. The mapping of flooded areas as of June 20, 2020, revealed a total area of 21,763.05 hectares of flooded zones in the Abidjan District. An estimation of the damages caused by this flood on June 20, 2020, indicates that an average of 13,170.17 hectares of assets were affected, representing 60.5% of the flooded areas. This breakdown includes 7,875.06 hectares (36.2%) of affected agricultural lands and 5,295.11 hectares (24.3%) of affected urban areas, impacting an average of 64,877 peoples. The results of this study have shown that the central part of the study area, above the lagoon, has the highest potential for flood risk due to the terrain morphology and the high vulnerability of built-up areas occupying the floodplain
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