To see the other types of publications on this topic, follow the link: Vues multiples.
Journal articles on the topic 'Vues multiples'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Vues multiples.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Raschi, Nataša. "Sur la traduction du théâtre francophone africain : l’exemple de Werewere Liking." ALTERNATIVE FRANCOPHONE 1, no. 3 (January 7, 2011): 79–86. http://dx.doi.org/10.29173/af9695.
Full textAbstract:
Nous concentrons ici notre attention sur la toute dernière production de Werewere Liking – Le Parler-Chanter et Médée – que nous avons traduite en italien. Auteur de pièces de théâtre, d’essais et de romans, mais aussi metteur en scène, peintre et écrivain, elle est originaire du Cameroun et, en 1985, a fondé à Abidjan (Côte d’Ivoire) un groupe de création artistique panafricain : la communauté du Village Ki-Yi. S’agissant d’œuvres créées en vue de la représentation scénique, plus aptes à être vues que lues, nous analysons les traits essentiels de ces textes, les multiples options offertes par la traduction et surtout les résultats obtenus.
2
Cardon, Alain. "Système de gestion de crises coopératif: un processus d'interprétation de points de vues multiples." Journal of Decision Systems 7, no. 1-4 (January 1998): 39–67. http://dx.doi.org/10.1080/12460125.1998.10511742.
Full text
3
Arboleda-Flórez, Julio, and David Norman Weisstub. "Psychiatrie médico-légale. Envergure, responsabilités éthiques et conflits de valeurs." Santé mentale au Québec 31, no. 2 (March 21, 2007): 193–213. http://dx.doi.org/10.7202/014812ar.
Full textAbstract:
Quand une spécialité chevauche plusieurs systèmes, on ne peut traiter d’éthique sans discuter des valeurs et des règles de décision à la base de chacun de ces systèmes. Par ses multiples associations, la psychiatrie médico-légale est un archétype d’une telle spécialité ; elle opère au sein d’un ensemble de valeurs qui peuvent sembler antithétiques, voire irréconciliables en regard d’autres aspects de la psychiatrie. L’action de la psychiatrie médico-légale a pris une envergure considérable, et ses praticiens doivent adopter d’autres vues sur le monde et appliquer des règles de décision qui peuvent heurter les valeurs classiques et les considérations éthiques de la médecine (Weisstub, 1980). Après un bref historique, les auteurs passent en revue l’étendue de l’action de la psychiatrie médico-légale vue comme fondement de sa définition. Les concepts, thèmes et controverses relativement à l’éthique de cette spécialité sont examinés à la lumière des questions soulevées dans la pratique actuelle.
4
Koehn, Sharon, Sanzida Habib, and Syeda Bukhari. "S4AC Case Study: Enhancing Underserved Seniors’ Access to Health Promotion Programs." Canadian Journal on Aging / La Revue canadienne du vieillissement 35, no. 1 (January 5, 2016): 89–102. http://dx.doi.org/10.1017/s0714980815000586.
Full textAbstract:
RÉSUMÉLes Services de soutien pour les aînés projet communautaire sud-asiatique (SSAPCSA) ont été développé en réponse à la sous-utilisation des loisirs disponibles et des installations pour les aînés par des aînés sud-asiatiques qui étaient particulièrement nombreux dans une banlieue en Colombie-Britannique. Abordant ce problème a nécessité la collaboration de la municipalité et un organisme enregistré à but non-lucratif offrant un large éventail de services et de programmes aux communautés immigrantes et réfugiées. Grâce à la sensibilisation créative et l’hébergement, le projet a engagé plus de 100 personnes âgées qui parlent panjabi chaque année à diverses activités impliquant l’exercice. Les méthodes de recherche ont porté sur l’étude de cas avec le personnel et les participants actuels et anciens cadres de SSAPCSA comprennent l’observation participante, entretiens individuels, et des groupes de discussion. Les conclusions, vues à travers le prisme d'interprétation critique de la “cadre de la candidature,” révèlent les multiples façons dans lesquelles l’accès à la promotion de la santé et l’activité physique pour les immigrants plus âgés est un processus complexe et itératif de négociation à plusieurs niveaux.
5
Gaudreault, André. "Du simple au multiple : le cinéma comme série de séries." Cinémas 13, no. 1-2 (April 26, 2004): 33–47. http://dx.doi.org/10.7202/007955ar.
Full textAbstract:
Résumé L’idée de série est au coeur de la problématique de la prise de vues cinématographiques, puisque les « vues animées » sont constituées d’une série de photogrammes (obtenus grâce au procédé du tournage) et que les films sont constitués d’une série de plans (obtenus grâce à la procédure du montage). C’est même par un constant passage dialectique, de l’un au multiple puis du multiple à l’un, que la cinématographie aurait réussi à se développer comme dispositif. Cet article cherche les racines de ce phénomène jusque dans la constitution de la photographie et de la chronophotographie. On y explique comment le passage de la photographie à la chronophotographie est un saut d’ordre quantitatif (production de photographies en plus grand nombre), alors que le passage de cette dernière à la cinématographie relèverait plutôt d’un saut d’ordre qualitatif (plusieurs images fixes qui donnent naissance à une seule image animée). En cinématographie, le dispositif mis en branle permettrait ainsi d’accéder à un seuil d’un autre degré, à un autre ordre de représentation.
6
Hamilton, Jada G., Jamie Brower, Dana Clark, Jessica E. Ebrahimzadeh, Sarah R. Kane, Pauleen Sanchez, Temima Wildman, et al. "Genetic testing experiences and emotional reactions among individuals with variant of uncertain significance results from cancer multiplex genetic testing." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): e13680-e13680. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e13680.
Full textAbstract:
e13680 Background: Multiplex genetic testing (MGT) simultaneously analyzes multiple cancer susceptibility genes and can reveal genetic variants of uncertain significance (VUS) that have unclear associations with cancer risks. Little is known about how people are prepared for receiving VUS results from MGT, or whether their emotional reactions differ based on the levels of cancer risk to which they may be susceptible. Methods: We recruited participants from the online Prospective Registry of Multiplex Testing (PROMPT). Those with only a VUS in a cancer predisposition gene completed a survey including measures of their MGT experience, distress (range 0-30; α = .87), uncertainty (0-45; α = .83), and positive experiences (0-20; α = .75). We used generalized linear modeling to examine how demographics, awareness of the possibility of VUS before testing, and level of cancer risks associated with their VUS gene were related to emotional outcomes. Results: Data were available from 661 individuals (40% response rate, 95% female, 90% white, 78% college graduate, 69% cancer history, age 23-93) with VUS in a gene of high risk (47%), moderate/low risk (35%) or limited evidence of risk (18%). Among the sample, 80.8% reported ever receiving cancer genetic counseling, and only 50.8% reported being aware of the possibility of VUS when deciding about testing. Participants reported low current distress ( M± SD= 3.25±5.19), uncertainty (9.18±8.35) and positive experiences (7.83±5.98). Distress was associated with younger age, less family cancer history, and being unaware of the possibility of VUS before testing; distress was also higher among those with VUS in a gene of high risk than those with VUS in a gene of moderate/low risk or limited evidence of risk ( ps≤.023). Uncertainty was associated with younger age, non-white race, less education, and being unaware of the possibility of VUS; uncertainty was also higher among those with VUS in a gene of high risk than those with VUS in a gene with limited evidence of risk ( ps≤.05). Fewer positive experiences were associated with more education and more family cancer history; those with VUS in a gene of high risk had fewer positive experiences than those with VUS in a gene with limited evidence of risk ( ps≤.03). Conclusions: Many individuals undergoing MGT may not fully understand the prospect of receiving VUS. Clinicians should consider patients’ background, preparation, and level of cancer risk to which they are potentially susceptible, as these factors may affect their emotional adaptation.
7
Bricard, H., G. Leroy, C. Trovero, G. Buteux, D. Samba, A. Suisse, J. Tartière, et al. "Les prélèvements multiples d'organes en vue de transplantation." Annales Françaises d'Anesthésie et de Réanimation 6, no. 2 (January 1987): 133–41. http://dx.doi.org/10.1016/s0750-7658(87)80121-1.
Full text
8
Idos, Gregory, Allison W. Kurian, Charité Ricker, Duveen Sturgeon, Julie Culver, Kerry Kingham, Rachel Koff, et al. "Preventive surgery after multiplex genetic panel testing (MGPT)." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): 1525. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.1525.
Full textAbstract:
1525 Background: Guidelines recommend consideration of prophylactic surgery for patients with a germline pathogenic variant in some cancer predisposition genes. We assessed surgery utilization in a prospective, multi-institutional cohort study of MGPT. Methods: 2000 patients had MGPT and completed questionnaires at 3, 6, and 12 months. Patients reported surgical utilization and indication (treatment or prevention). Surgery utilization was assessed according to cancer history and MGPT test results: Positive, pathogenic variant; VUS, variant of uncertain significance; Negative, benign variants. Results: Overall, 12.9% (198/1537) of patients reported surgery after MGPT (median follow-up 13 months). Only 31.3% (62/198) of patients specified that their surgery was preventive. Preventive surgery utilization was significantly higher among patients who tested positive (n=30, 14.9%) compared to those testing negative (n=20, 2.3%, p<0.001) or VUS (n=12, 2.2%, p<0.001). Preventive surgery was very low among patients testing negative or VUS who had no personal history of cancer in the relevant organ (Table). For example, mastectomy was not reported among any patients testing negative or VUS who had no personal history of breast cancer (Table). Conclusions: More than one year after MGPT, prophylactic surgery use was low among patients with VUS or negative results, especially among those with no personal history of cancer at the relevant site. Surgery utilization. [Table: see text]
9
Lamy, Laurent. "ARISTOTELES MULTIPLEX :." Belas Infiéis 3, no. 1 (October 8, 2014): 55–103. http://dx.doi.org/10.26512/belasinfieis.v3.n1.2014.11259.
Full textAbstract:
Cette étude part d’un fait trop négligé : les corpus d’auteurs comme Platon et Aristote ne connaissent leur editio princeps qu’au terme d’un long processus de recouvrement, de transmission, de collation philologique, de restitution et de traduction, contrairement à la majorité des oeuvres où elle coïncide avec la première édition. Référer à l’authorship, au statut d’auctor, c’est aussi considérer l’auctoritas. Pour ce faire, nous allons examiner les vagues de traduction du corpus aristotélicien à la Renaissance, aussi bien à Florence qu’à Padoue, fief des aristotéliciens radicaux, aux vues teintées d’averroïsme. Un champ de bataille se dessine alors entre les tenants de l’oratio, nourrissant un souci d’élégance et d’acuité dans le style inspiré de Cicéron, et les zélateurs du latin de la scolastique médiévale, la logica vetus, affligée par une langue plutôt laborieuse. Une attention particulière est portée aux travaux de traduction et aux prises de position de Leonardo Bruni et de Lorenzo Valla, chauds partisans de l’oratio. Nous inscrivons leur démarche dans une tradition de pensée qui prend son essor chez Cicéron et Quintilien et qui, par le relais du De vulgari eloquentia de Dante Alighieri, va s’épanouir dans la rhétorique des baroques espagnols, dont Baltasar Graciàn, pour ensuite être défendue avec force chez Giambattista Vico à l’encontre du rationalisme cartésien, pour trouver enfin une niche de prédilection dans la théorie critique des Romantiques d’Iéna, non moins que chez Walter Benjamin, qui en est un épigone. Nous en concluons que l’histoire des idées aussi bien que celle des diverses conceptions des usages de la langue sont aussi une histoire de (la) traduction.
10
Brighenti, Andrea. "On Territory as Relationship and Law as Territory." Canadian journal of law and society 21, no. 2 (August 2006): 65–86. http://dx.doi.org/10.1017/s0829320100008954.
Full textAbstract:
RésuméContre les conceptions traditionnelles qui confondent le territoire avec sa prolongation spatiale physique, cet article fait une proposition antiréductionniste. Il explore les caractéristiques d'une conception radicale et non intuitive du territoire, et les applique au droit. Au coeur du concept du territoire, il identifie des relations plutôt que des espaces, de sorte que territoires spatiaux et non spatiaux puissent être vus superposés les uns sur les autres, dotés de raccordements multiples, selon différentes échelles et degrés de visibilité. Le territoire peut alors être envisagé à la fois comme une activité de tracement de frontières et comme un processus qui crée des positions subjectives pré-assignées, toutes deux étant des soucis primaires pour le droit. De ce point de vue, le droit est un effort éminemment territorial. Le centre de l'enquête est par conséquent décalé sur les acteurs qui, en établissant et en formant leurs rapports sociaux, tracent différents types de frontières, sur les technologies qu'ils appliquent et les objectifs qu'ils essayent de réaliser en traçant des frontières.
11
Kurian, Allison W., Gregory Idos, Charite Nicolette Ricker, Julie Culver, Duveen Sturgeon, Kerry Kingham, Rachel Koff, et al. "Safety of multiplex gene testing for inherited cancer risk in a fully accrued prospective trial." Journal of Clinical Oncology 35, no. 15_suppl (May 20, 2017): 1576. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.1576.
Full textAbstract:
1576 Background: Sequencing more genes increases the chance of finding a pathogenic mutation and/or a variant of uncertain significance (VUS). Little is known about potential harms of multiplex testing for cancer risk, such as unwarranted surgery or adverse psychological effects. Methods: We conducted a prospective trial of sequencing 25 genes : APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Patients were eligible if they met standard testing guidelines or predictive models estimated ≥2.5% mutation probability. Participants were surveyed 3 months post-test: the Multidimensional Impact of Cancer Risk Assessment (MICRA) scale measured distress, uncertainty and positive experiences. We report on the fully accrued trial (N = 2000). Results: 1998/2000 (99.9%) participants currently have reported results: 12.1% tested positive for a pathogenic mutation (Pos), 34.5% had VUS only and 53.5% tested negative (Neg). Median age was 51, 81% were female, 40% Hispanic, and 72% had a cancer history. Self-reported preventive surgery rates were low (mastectomy 9.3%, hysterectomy 1.5%, oophorectomy 1.6%), with no difference between VUS and Neg patients (p = 0.346). Most patients never or rarely had thoughts of cancer affecting daily activities (Pos 59.5%, VUS 66.9%, Neg 71.0%), never regretted testing (Pos 84.1%, VUS 90.0%, Neg 93.6%), and wanted to know all results, even those that doctors do not fully understand (Pos 81.7%, VUS 78.8%, Neg 77.1%). Pos patients had higher MICRA distress and uncertainty scores than VUS and Neg patients, whose distress and uncertainty scores did not differ significantly (p = 0.165, p = 0.129). Relatives of Pos patients completed genetic testing (30.4%) more often than VUS (5.8%) or Neg patients (5.1%, p < 0.001). Conclusions: After multiplex testing of 2000 diverse patients, few reported preventive surgery at 3 months; VUS patients had no more distress, regret or uncertainty than Neg patients. Pos patients most often advised relatives to test, suggesting that participants understood the implications of test results. Longer-term follow-up of test-related outcomes is underway. Clinical trial information: NCT02324062.
12
Popov, Peter, Guan Qin, Linfeng Bi, Yalchin Efendiev, Richard E. Ewing, and Jianglong Li. "Multiphysics and Multiscale Methods for Modeling Fluid Flow Through Naturally Fractured Carbonate Karst Reservoirs." SPE Reservoir Evaluation & Engineering 12, no. 02 (April 14, 2009): 218–31. http://dx.doi.org/10.2118/105378-pa.
Full textAbstract:
Summary Modeling and numerical simulations of Carbonate karst reservoirs is a challenging problem because of the presence of vugs and caves which are connected through fracture networks at multiple scales. In this paper, we propose a unified approach to this problem by using the Stokes-Brinkman equations which combine both Stokes and Darcy flows. These equations are capable of representing porous media (porous rock) as well as free-flow regions (fractures, vugs, and caves) in a single system of equations. The Stokes-Brinkman equations also generalize the traditional Darcy-Stokes coupling without sacrificing the modeling rigor. Thus, it allows us to use a single set of equations to represent multiphysics phenomena on multiple scales. The local Stokes-Brinkman equations are used to perform accurate scale-up. We present numerical results for permeable rock matrix populated with elliptical vugs and we consider upscaling to two different coarse-scale grids--5×5 and 10×10. Both constant and variable background permeability matrices are considered and the effect the vugs have on the overall permeability is evaluated. The Stokes-Brinkman equations are also used to study several vug/cave configurations which are typical of Tahe oilfield in China.
13
Chik, Caroline. "La photographie sérielle et séquentielle. Origines et ambiguïtés." Hors dossier 24, no. 2-3 (May 22, 2014): 187–215. http://dx.doi.org/10.7202/1025153ar.
Full textAbstract:
Cet article vise à poser les premiers jalons d’une histoire de la photographie séquentielle du mouvement. Après en avoir recherché les origines dans les premiers cas de prise de vue multiple ayant donné lieu à la variation des poses (série) ainsi qu’à leur succession (séquence), l’auteure entend démontrer que les premières formes séquentielles du mouvement sont apparues dès les années 1850. Un autre rapport de la photographie au mouvement existe en dehors des « incontournables » bougé, instantané et chronophotographie : un mouvement mis en scène, posé et composé image par image. L’auteure examine des formes photographiques obtenues notamment au moyen du châssis multiplicateur et de la chambre à objectifs multiples, qui souvent présentent une ambiguïté entre sérialité et séquentialité : le portrait multiple, le portrait-carte et le portrait tournant, en interrogeant en particulier les liens étroits entre ce dernier, expérimenté par Nadar, et la photosculpture.
14
Jeanneret, Yves. "Les multiples visages de l’urgence : point de vue sur les travaux." Communication et organisation, no. 29 (June 1, 2006): 235–41. http://dx.doi.org/10.4000/communicationorganisation.3419.
Full text
15
Ni, Shun-Hao, De-Yi Zhang, Wei-Chau Xie, and Mahesh D. Pandey. "Vector-Valued Uniform Hazard Spectra." Earthquake Spectra 28, no. 4 (November 2012): 1549–68. http://dx.doi.org/10.1193/1.4000081.
Full textAbstract:
Uniform hazard spectra (UHS) have been used as design earthquakes in several design codes. However, as the results from scalar probabilistic seismic hazard analysis (PSHA), UHS do not provide knowledge about the simultaneous occurrence of spectral accelerations at multiple vibration periods. The concept of a single “design earthquake” is then lost on a UHS. In this study, a vector-valued PSHA combined with scalar PSHA is applied to establish an alternative design spectrum, named vector-valued UHS (VUHS). Vector-valued seismic hazard deaggregation (SHD) is also performed to determine the design earthquake in terms of magnitude, distance, and occurrence rate for the VUHS. The proposed VUHS preserves the essence of the UHS and can also be interpreted as a single design earthquake. To simplify the procedure for generating the VUHS, so that they can be easily incorporated into performance-based seismic design, an approximate method is also developed.
16
Li, Chang, Liqiang Sima, Guoqiong Che, Wang Liang, Anjiang Shen, Qingxin Guo, and Bing Xie. "Vug and fracture characterization and gas production prediction by fractals: Carbonate reservoir of the Longwangmiao Formation in the Moxi-Gaoshiti area, Sichuan Basin." Interpretation 8, no. 3 (July 23, 2020): SL159—SL171. http://dx.doi.org/10.1190/int-2019-0260.1.
Full textAbstract:
A comprehensive knowledge of the development and connectivity of fractures and vugs in carbonate reservoirs plays a key role in reservoir evaluation, ultimately affecting the gas prediction of this kind of heterogeneous reservoir. The carbonate reservoirs with fractures and vugs that are well developed in the Longwangmiao Formation, Sichuan Basin are selected as a research target, with the fractal dimension calculated from the full-bore formation microimager (FMI) image proposed to characterize the fractures and vugs. For this purpose, the multipoint statistics algorithm is first used to reconstruct a high-resolution FMI image of the full borehole wall. And then, the maximum class-variance method (the Otsu method) realizes the automatic threshold segmentation of the FMI image and acquisition of the binary image, which accurately characterizes the fractures and vugs. Finally, the fractal dimension is calculated by the box dimension algorithm, with its small value difference enlarged to obtain a new fractal parameter ([Formula: see text]). The fractal dimensions for four different kinds of reservoirs, including eight subdivided models of vugs and fractures, show that the fractal dimension can characterize the development and the connectivity of fractures and vugs comprehensively. That is, the more developed that the fractures and vugs are, the better the connectivity will be, and simultaneously the smaller that the values of the fractal dimensions are. The fractal dimension is first applied to the gas production prediction by means of constructing a new parameter ([Formula: see text]) defined as a multiple of the effective thickness ([Formula: see text]), porosity (Por), and fractal dimension ([Formula: see text]). The field examples illustrate that the fractal dimensions can effectively characterize the fractures and vugs in the heterogeneous carbonate reservoir and predict its gas production. In summary, the fractals expand the characterization method for the vugs and fractures in carbonate reservoirs and extend its new application in gas production prediction.
17
Guimond, Eric, Norbert Robitaille, and Sacha Senécal. "Les Autochtones du Canada : une population aux multiples définitions." Articles 38, no. 2 (November 1, 2010): 221–51. http://dx.doi.org/10.7202/044815ar.
Full textAbstract:
Dans leur désir de faire des recherches et de rassembler de la documentation sur les questions sociales autochtones au Canada, les démographes et autres spécialistes de l’étude des populations, aussi bien autochtones que non autochtones, négligent souvent une question fondamentale : quelles définitions des populations autochtones utiliser ? L’appartenance autochtone n’étant ni permanente, ni transférée automatiquement de génération en génération, les principales définitions des peuples autochtones conduisent à des effectifs et des caractéristiques forts différents. Le présent article offre une vue d’ensemble de ces définitions ainsi que des effectifs de population correspondants et illustre l’effet du choix d’une définition sur l’analyse démographique.
18
Balmaña, Judith, Laura Digiovanni, Pragna Gaddam, Michael F. Walsh, Vijai Joseph, Zsofia K. Stadler, Katherine L. Nathanson, et al. "Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing." Journal of Clinical Oncology 34, no. 34 (December 1, 2016): 4071–78. http://dx.doi.org/10.1200/jco.2016.68.4316.
Full textAbstract:
Purpose Massively parallel sequencing allows simultaneous testing of multiple genes associated with cancer susceptibility. Guidelines are available for variant classification; however, interpretation of these guidelines by laboratories and providers may differ and lead to conflicting reporting and, potentially, to inappropriate medical management. We describe conflicting variant interpretations between Clinical Laboratory Improvement Amendments–approved commercial clinical laboratories, as reported to the Prospective Registry of Multiplex Testing (PROMPT), an online genetic registry. Methods Clinical data and genetic testing results were gathered from 1,191 individuals tested for inherited cancer susceptibility and self-enrolled in PROMPT between September 2014 and October 2015. Overall, 518 participants (603 genetic variants) had a result interpreted by more than one laboratory, including at least one submitted to ClinVar, and these were used as the final cohort for the current analysis. Results Of the 603 variants, 221 (37%) were classified as a variant of uncertain significance (VUS), 191 (32%) as pathogenic, and 34 (6%) as benign. The interpretation differed among reporting laboratories for 155 (26%). Conflicting interpretations were most frequently reported for CHEK2 and ATM, followed by RAD51C, PALB2, BARD1, NBN, and BRIP1. Among all participants, 56 of 518 (11%) had a variant with conflicting interpretations ranging from pathogenic/likely pathogenic to VUS, a discrepancy that may alter medical management. Conclusions Conflicting interpretation of genetic findings from multiplex panel testing used in clinical practice is frequent and may have implications for medical management decisions.
19
Domchek, Susan M., Jamie Brower, Heather Symecko, Vanessa Marcell, Michael Francis Walsh, Jada G. Hamilton, Fergus Couch, Kenneth Offit, Judy Ellen Garber, and Mark E. Robson. "Uptake of oophorectomy in women with findings on multigene panel testing: Results from the Prospective Registry of Multiplex Testing (PROMPT)." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 1508. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.1508.
Full textAbstract:
1508 Background: With the expansion of multigene panel testing for cancer susceptibility, increasing numbers of patients are identified with pathogenic/likely pathogenic variants (P/LP V) in genes which do not have a clearly actionable increased risk of ovarian cancer (OC) (lifetime risk of OC >5%). However, there is concern that patients and/or providers may ascribe OC risk to such genetic findings with the potential for unnecessary oophorectomy (ooph). Methods: The Prospective Registry of Multiplex Testing (PROMPT) is an online registry for individuals with a genetic alteration detected on multiplex panel testing for cancer susceptibility. Participants self-enroll and complete baseline and annual follow-up questionnaires. PROMPT has enrolled 7388 participants (6936; 93.9% women) since September 2014. Results: 1566 women in the PROMPT registry reported ooph, the indications for which were reported as either cancer treatment (n=481, 30.7%) or benign disease (n=432, 27.6%). An additional 186 (12.8%) reported PV in genes associated with lifetime OC risk >5% ( BRCA1, BRCA2, RAD51C, RAD51D, BRIP, or Lynch syndrome genes). The remaining 467 did not have guideline based indications for ooph due to OC risk and are described further here. 92 (19.7%) had a variant of uncertain significance (VUS) in genes associated with OC, 241 (51.6%) had a personal history of breast cancer (BC) and no VUS in OC genes, and 119 (25.5%) had no personal history of BC and no VUS in OC genes. The majority of women had no family history (FH) of OC in first or second degree relatives (Table). Most ooph occurred prior to age 50. Of the 405 women with CHEK2 P/LP, 11.4% reported ooph (59% under age 50 when age known), as did 13.2% (of 228) with CHEK2 VUS, 8.8% (of 261) with ATM P/LP (66.7% under age 50), and 8.3% (of 387) with ATM VUS. In addition, of the 184 women with PALB2 P/LP, 14.1% reported ooph (35.3% under age 50) as did 11.6% (of 198) with PALB2 VUS. Of those who reported provider discussions, 47.2% stated “my provider recommended this” (including >60% in the OC gene VUS group) and an additional 25.2% stated “my provider presented this as an option, but not a requirement”. In those with no FH of OC, 45.8% stated that their provider recommended ooph. Conclusions: 10-15% of women with PV/VUS in genes not associated with a high risk of OC reported ooph without a clear indication. [Table: see text]
20
Brown, Landon C., Matthew D. Tucker, Ramy Sedhom, Eric B. Schwartz, Jason Zhu, Chester Kao, Matthew K. Labriola, et al. "LRP1B mutations are associated with favorable outcomes to immune checkpoint inhibitors across multiple cancer types." Journal for ImmunoTherapy of Cancer 9, no. 3 (March 2021): e001792. http://dx.doi.org/10.1136/jitc-2020-001792.
Full textAbstract:
BackgroundLow-density lipoprotein receptor-related protein 1b (encoded by LRP1B) is a putative tumor suppressor, and preliminary evidence suggests LRP1B-mutated cancers may have improved outcomes with immune checkpoint inhibitors (ICI).MethodsWe conducted a multicenter, retrospective pan-cancer analysis of patients with LRP1B alterations treated with ICI at Duke University, Johns Hopkins University (JHU) and University of Michigan (UM). The primary objective was to assess the association between overall response rate (ORR) to ICI and pathogenic or likely pathogenic (P/LP) LRP1B alterations compared with LRP1B variants of unknown significance (VUS). Secondary outcomes were the associations with progression-free survival (PFS) and overall survival (OS) by LRP1B status.ResultsWe identified 101 patients (44 Duke, 35 JHU, 22 UM) with LRP1B alterations who were treated with ICI. The most common tumor types by alteration (P/LP vs VUS%) were lung (36% vs 49%), prostate (9% vs 7%), sarcoma (5% vs 7%), melanoma (9% vs 0%) and breast cancer (3% vs 7%). The ORR for patients with LRP1B P/LP versus VUS alterations was 54% and 13%, respectively (OR 7.5, 95% CI 2.9 to 22.3, p=0.0009). P/LP LRP1B alterations were associated with longer PFS (HR 0.42, 95% CI 0.26 to 0.68, p=0.0003) and OS (HR 0.62, 95% CI 0.39 to 1.01, p=0.053). These results remained consistent when excluding patients harboring microsatellite instability (MSI) and controlling for tumor mutational burden (TMB).ConclusionsThis multicenter study shows significantly better outcomes with ICI therapy in patients harboring P/LP versus VUS LRP1B alterations, independently of TMB/MSI status. Further mechanistic and prospective validation studies are warranted.
21
Marchuk, Margarita, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, and Yevheniya Sharhorodska. "Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis." Brain Sciences 11, no. 8 (July 31, 2021): 1020. http://dx.doi.org/10.3390/brainsci11081020.
Full textAbstract:
Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2–3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover’s rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky’s reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746.81 U/l), active foci of demyelination in the left frontal lobe, intrathecal synthesis of oligoclonal IgG bands (type 2) in cerebrospinal fluid, atrophy and fatty degeneration of all muscles of the shins, homozygous Variant of Uncertain Significance (VUS) c.1855C > T (p.Pro619Ser) in TRIM32 gene and heterozygous VUS c.2300C > G (p.Thr767Arg) in KIF5A, c.2840G > A (p.Arg947Lys) in MYH2, c.1502G > C (p.Gly501Ala) in POMT1 genes. Comparison of the phenotypes of the mutations that have been identified with the clinical picture of the patient suggests that VUS c.1855C > T (p.Pro619Ser) in the TRIM32 gene can be pathological. Summarizing, it can be argued that the cause of the identified disorders is a homozygous variant c.1855C > T (p.Pro619Ser) in TRIM32 gene that causes LGMDR8 in a patient with MS.
22
Gignac, Alain. "Charismes pauliniens et charisme wébérien, des « faux-amis » ?" Thème 17, no. 1 (March 23, 2010): 139–62. http://dx.doi.org/10.7202/039502ar.
Full textAbstract:
Résumé Weber a emprunté le mot charisme à Paul, puis son concept d’autorité charismatique a influencé la manière dont on lisait Paul. Or, il appert que l’on a affaire à un phénomène de « faux-amis » entre la langue théologique et la langue sociologique. En Rm 12, 1 Co 12—14 et Ep 4, les charismes désignent les dons de Dieu, multiples et différenciés, distribués en vue de la construction de la communauté. Ils ne sont pas à comprendre chez Paul tant en termes de leadership ou de pouvoir monologique, qu’en termes de fonctionnement organique, puisqu’il est question de la circulation d’une parole multiple qui débouche sur l’action. Par ailleurs, si l’idéaltype wébérien du charisme prophétique peut éclairer en partie le fonctionnement du charisme paulinien d’apôtre, le concept de charisme spécifique permet de mieux rendre compte du fonctionnement de l’ensemble des charismes pauliniens.
23
Mbabia, Olivier. "La Chine vue du sud. Perceptions multiples dans un environnement global en mutation." Monde chinois 38-39, no. 2 (2014): 32. http://dx.doi.org/10.3917/mochi.038.0032.
Full text
24
Hurley, Erin, and Isabelle Léger. "Les corps multiples du Cirque du Soleil." Globe 11, no. 2 (February 8, 2011): 135–57. http://dx.doi.org/10.7202/1000525ar.
Full textAbstract:
Dans cet article, je m’intéresse à ces corps qui peuplent les spectacles du Cirque du Soleil dans leur nature physique brute et leur unicité. J’isole les caractéristiques prépondérantes du corps dans le contexte du Cirque depuis ses débuts il y a vingt ans, mais en me penchant tout particulièrement sur son plus récent opus, KOOZÄ. Le corps in extremis constitue le fondement de l’esthétique du Cirque, lui fournit ses éléments principaux, sa facture visuelle et son canevas le plus prolifique. Sur une piste largement dépourvue de « décor », ce sont les circassiens - leurs mouvements, leurs costumes et leur talent - qui sont à l’origine de l’action, de la couleur et, jusqu’à un certain point, de l’architecture du cirque. Une étude approfondie de ces corps d'exception nous permet de déchiffrer les rythmes et les codes du « nouveau cirque » dans cette oeuvre exemplaire du genre. L’esthétique unificatrice du Cirque du Soleil pourrait être vue comme un effort concerté pour régir ces corps insoumis et hors norme. J’avance que cet effort nie le caractère foncièrement exceptionnel de ces corps - c'est-à-dire une étrangeté aux racines profondes et significatives, bien que désormais moins apparentes dans la culture du cirque.
25
Kondratieva, Margo. "Detecting and sharing praxeologies in solving interconnecting problems: some observations from teacher education viewpointDétecter et partager les praxéologies dans la résolution de problèmes d'interconnexion: quelques observations du point de vue de la formation des enseignants." Educação Matemática Pesquisa : Revista do Programa de Estudos Pós-Graduados em Educação Matemática 22, no. 4 (September 15, 2020): 472–86. http://dx.doi.org/10.23925/1983-3156.2020v22i4p472-486.
Full textAbstract:
AbstractThis paper discusses praxeologies available at different levels of schooling in view of a problem, which permits multiple solutions ranging from elementary to more advanced mathematical approaches. Solutions of the problem produced by mixed groups of K-12 teachers included numerical, pictorial and algebraic methods, and allowed observing possible paths within a finalized activity of study and research. They also gave some insights regarding teachers’ readiness to support the continuity of students’ praxeological development, and more generally, the potential within teachers’ educational backgrounds to pursue the new paradigm of questioning the world.Keywords: Teacher education, Praxeological development, Mathematical problems with multiple solutions.RésuméCe texte discute les praxéologies disponibles à différents niveaux de la scolarité pour résoudre un problème qui permet des résolutions multiples, depuis des approches élémentaires aux plus avancées. Les résolutions proposées par un groupe mixte d’enseignants de l’école élémentaire jusqu’au lycée ont employé des méthodes numériques, graphiques et algébriques, et permettent d’observer les parcours possibles d’une activité finalisée d’étude et de recherche. Elles nous laissent aussi percevoir la capacité des enseignants pour soutenir la continuité du développement praxéologique des élèves, et plus généralement le potentiel résultant de la formation des enseignants à poursuivre le nouveau paradigme du questionnement du monde.Mots-clés: formation des enseignants, développement praxéologique, problèmes mathématiques aux solutions multiples.
26
Kilian, Christine, Alan Salmoni, Catherine Ward-Griffin, and Marita Kloseck. "Perceiving Falls within a Family Context: A Focused Ethnographic Approach." Canadian Journal on Aging / La Revue canadienne du vieillissement 27, no. 4 (2008): 331–45. http://dx.doi.org/10.3138/cja.27.4.331.
Full textAbstract:
RÉSUMÉLa présente recherche visait à examiner les perceptions de risque des aînés et de leurs enfants adultes en ce qui a trait aux chutes. Nous avons utilisé une méthode ethnographique ciblée et soumis à une entrevue approfondie aînés et enfants adultes. L'analyse thématique a été effectuée afin de déterminer les thèmes à l'intérieur des groupes et de comparer les points de vue des aînés et des enfants adultes. Les résultats ont fait ressortir les différences dans les perceptions et les méthodes d'interaction entre les aînés et leurs enfants adultes. Trois méthodes avaient été adoptées par ces familles, articulées autour des personnes dont les actions étaient dominantes:Actions des parents, Actions partagées, etActions cachées des enfants. Les résultats soulignaient l'importance accordée par les aînés à l'indépendance et l'effet des relations familiales multiples prenant des mesures pour éviter les chutes. La présente étude souligne l'importance d'inclure des points de vue multiples de la famille lors de la recherche portant sur la prévention des blessures chez les aînés.
27
Gignac, Alain. "Caïn, protégé du Seigneur ?" Thème 17, no. 2 (July 6, 2010): 111–34. http://dx.doi.org/10.7202/044065ar.
Full textAbstract:
Résumé La Bible interdit de représenter Dieu « en image » mais ne se prive pas de le mettre en scène dans des récits. Comment alors éviter que le lecteur ne se fabrique une « image de Dieu narrative » idolâtre ? À partir du récit de Caïn et Abel (Gn 4), analysé sous l’angle des dialogues et des points de vue différenciés des personnages, l’article démontre que la narration biblique, par la manière dont elle raconte, brouille la représentation de Dieu et invite à une lecture dialogique. Loin de la lecture moralisante et culpabilisante traditionnelle (qui reprend uniquement le point de vue de Caïn), on se rend compte que le récit insiste sur les multiples initiatives divines pour entrer en discussion avec Caïn afin de le faire advenir réellement à lui-même, comme individu moralement responsable. En introduction, une réflexion est proposée quant à l’intérêt de la narratologie pour évaluer le jeu des multiples relectures artistiques d’un récit biblique et pour établir un dialogue interdisciplinaire entre l’exégèse et l’histoire de l’art.
28
Brown, Landon Carter, Ramy Sedhom, Eric B. Schwartz, Jason Zhu, Chester Kao, Matthew D. Tucker, Matthew Labriola, et al. "Association of LRP1B pathogenic genomic alterations with favorable outcomes with immune checkpoint inhibitors across multiple tumor types." Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020): 3007. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.3007.
Full textAbstract:
3007 Background: Low-density lipoprotein receptor-related protein 1b (LRP1b) is a putative tumor suppressor and one of the most frequently altered genes in cancer. Our prior single-center work suggested that LRP1B alterations may enrich for responses to immune checkpoint inhibitors (ICI) in solid tumors including prostate cancer; however, validation of these findings is needed. Methods: We conducted a multicenter, retrospective analysis of patients with LRP1B alterations (on tissue-based next-generation sequencing panels) treated with ICI at Duke, Johns Hopkins (JHU), and University of Michigan (UM). The primary objective was to assess the association between objective response rate (ORR) to ICI and pathogenic LRP1B alterations, defined as deletions or truncating alterations, when compared with LRP1B variants of undetermined significance (VUS), defined as missense mutations not predicted to be pathogenic in COSMIC. Missense changes with a COSCMIC FATHMM score of > 0.8 were categorized separately as likely pathogenic. Summary statistics, ORR, progression free survival (PFS), and overall survival (OS) were calculated. Results: 101 patients (44 Duke, 35 JHU, 22 UM) with LRP1B alterations were treated with ICI. Median age was 61 (range 32-82). The most common tumor types by alteration (pathogenic or likely pathogenic/VUS%) were lung (33/47%), GI (17/13%), prostate (11/7%), sarcoma (2/9%), melanoma (11/0%), and others (26/24%). 93% of patients received single-agent PD-(L)1 inhibition. The ORR for patients with either pathogenic/likely pathogenic alterations, or VUS alterations was 57% and 18%, respectively. After excluding MSI-high or TMB-high ( > 10 mut/Mb) tumors, ORR was 14/25 (56%) and 6/36 (17%), respectively. Pathogenic or likely pathogenic LRP1B alterations were associated with longer PFS (HR 0.39, 95% CI 0.24-0.63) and OS (HR 0.58, 95% CI 0.36-0.95). Conclusions: This multicenter study shows impressive and durable objective response rates to ICI for patients harboring pathogenic LRP1B alterations when compared to those with LRP1B VUS, independent of TMB/MSI status. Further mechanistic insights and prospective validation studies are warranted. [Table: see text]
29
He, Ling, Jian Xin Li, Rui Lin Liu, Da Hua Zhao, and Man Luo. "Study on Primary Controlling Factors to Carbonate Reservoir Physical Properties of Zhanazhol Oilfield." Advanced Materials Research 734-737 (August 2013): 183–88. http://dx.doi.org/10.4028/www.scientific.net/amr.734-737.183.
Full textAbstract:
By the aid of such core analysis data as lithochemical data, physical property data, thin sections and capillary pressure curves, studies were made on the physical properties and its primary controlling factors of carboniferous carbonate reservoirs of Zhanazhol oilfield. The studies were focused on such aspects as lithology, void type, pore connectivity, developing degree of vugs and fractures and fracture type. The study shows that the reservoirs of KT-I are principally multiple void-typed with middle porosity and permeability, with lithology, developing degree of vugs and fractures and fracture type being the primary controlling factors to their physical properties, and that the reservoirs of KT-II are principally fracture-pore typed with low to middle porosity and permeability, with lithology, void type, pore connectivity and fracture type being the primary controlling factors.
30
Boudon, Pierre. "Tracés territoriaux d’un point de vue sémiotique." Semiotica 2017, no. 219 (November 27, 2017): 563–74. http://dx.doi.org/10.1515/sem-2017-0067.
Full textAbstract:
AbstractBy “territorial lines,” we do not mean the physical appearance of a natural landscape in its multiple manifestations but an underlying level of schematization that constitutes it as text and/or iconic picture, an intermediary between these manifestations and the set of conceptual notions that underlies it (mountain, valley, plain, river, coast, etc.). In this way, territorial lines are similar to Peircian diagrams, halfway between images and symbols. It is a level of immanence that traverses different types of demonstration, natural reliefs, cartography, pictorial expressions (as in the work of Klee, for example), and choreography (as with Laban). This paper compliments the one we proposed online in 2014 in the Actes Sémiotiques (vol. 117), about a genesis of territory.
31
Arbefeville, Sophie, Maureen Lynch, and Patricia Ferrieri. "Evaluation of a Multiplex Fully Automated Treponemal and Nontreponemal (Rapid Plasma Reagin) Assay." American Journal of Clinical Pathology 152, no. 2 (May 29, 2019): 230–36. http://dx.doi.org/10.1093/ajcp/aqz034.
Full textAbstract:
ABSTRACTObjectivesIn June 2017, Bio-Rad Laboratories received US Food and Drug Administration clearance for its BioPlex 2200 Syphilis Total & RPR (rapid plasma reagin) assay. It is the first fully automated treponemal/nontreponemal multiplex flow immunoassay, simultaneously detecting Treponema pallidum and reagin antibodies and an RPR titer. We compared the performance of the BioPlex Syphilis Total & RPR assay with the LIAISON Treponema Assay and the manual BD Macro-Vue RPR 18-mm Circle Test.MethodsIn total, 314 serum specimens were tested for treponemal immunoglobulin G/immunoglobulin M and RPR with the LIAISON Treponema Assay, the BioPlex 2200 Syphilis Total & RPR assay, and the manual BD Macro-Vue RPR card test. All discordant results were further tested with the T pallidum particle agglutination assay from Fujirebio Diagnostics.ResultsThe overall percent agreement for the BioPlex assay for treponemal antibodies with the LIAISON Treponema Assay was 96.1%. Sensitivity and specificity for the BioPlex RPR assay were 90.5% and 97.2%, respectively (the manual RPR assay was considered the gold standard).ConclusionsThe BioPlex 2200 Syphilis Total & RPR assay performance was comparable to the LIAISON Treponema Assay and the manual RPR test. Compared with the manual RPR, the automation of RPR testing offered labor savings, objective result reporting, and improved workflow.
32
Goupil, Sylvie. "Une lecture postmoderne de la démocratie." Articles 16, no. 3 (November 26, 2008): 49–65. http://dx.doi.org/10.7202/040082ar.
Full textAbstract:
Résumé Les axes d’analyse désignés comme le point de vue systémique et le point de vue basé sur le conflit, trop univoques, ne permettent pas de saisir les mutations actuelles de la démocratie libérale. Sans les rejeter complètement, il convient de les relativiser par une lecture postmoderne, plus multiple, de la démocratie en évolution. Plus précisément, le concept de superposition laisse entrevoir la pluralité des modes d’expression contradictoires, complémentaires et peut-être irréductibles du processus démocratique en cours. Les sociétés démocratiques seront donc peut-être confrontées bientôt à la nécessité de concilier diversité et démocratie.
33
Kwong, A., L. P. Wong, K. Chan, E. Ma, U. S. Khoo, and J. M. Ford. "Characterization of the pathogenic mechanism of a novel BRCA2 variant in a Chinese family." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 10541. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.10541.
Full textAbstract:
10541 Background: Despite the identification of a large number of sequences in BRCA1/2 mutation analyses, many genetic alterations are classified as variants of unknown significance (VUS). Increasing data demonstrates ethnic variation of BRCA mutation. We report a novel BRCA2 VUS in a Chinese family with multiple breast cancers and characterized it as pathogenic by RNA analysis. Method: Peripheral blood was collected from the breast cancer proband and her family who were suspected to have a pathogenic mutation due the segregation of the disease phenotype and the young age of presentation of breast cancer. DNA and RNA was extracted from the blood. The entire coding regions and flanking introns of BRCA1/2 were screened for germline mutations using full gene sequencing and Multiplex Ligation -dependent Probe Amplification. Variant DNA alteration leading to an aberrant BRCA transcript was demonstrated by RT-PCR of the RNA and Polyacrylamide Gel Electrophoresis. Abnormal bands were cloned and direct sequencing conducted. Results: A germline mutation c.7806–9T>G was identified in the proband at the BRCA2 intron 16. This mutation was also found in 3 of her 4 sibling sisters with early breast cancer. The proband's mother harbored the same BRCA2 mutation in DNA extracted from archival gastric tumor tissues. Computational analyses showed that this mutation might give rise to a cryptic splice site for alternative RNA splicing. To confirm the pathogenicity, RT- PCR using specific primers flanking the cryptic splice site and sequencing was performed on RNA extracted from the proband's blood. Four different sizes of transcripts were found: wild type, r.7806_7874del , r.7806_7976del and r.7806–8_7806-lins. The latter 3 aberrant transcripts were not found in the 30 controls therefore polymorphism is unlikely. The r.7806–8_7806-lins transcript caused a frameshift which created a truncated protein; whereas the other two short transcripts produced shorter BRCA2 protein isoforms. Conclusion: We identified a novel BRCA2 VUS and classified it as pathogenic. Classification of VUS as neutral or pathogenic, particularly in ethnic groups where limited knowledge is known is a challenge. Research on the spectrum of mutations in diversed ethnic groups has important implications on management. [Genbank: DQ889340 ] No significant financial relationships to disclose.
34
Wassman, E. Robert, Karen S. Ho, Diana Bertrand, Kyle W. Davis, Megan M. Martin, Stephanie Page, Andreas Peiffer, et al. "Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders." Neurology Genetics 5, no. 6 (December 2019): e378. http://dx.doi.org/10.1212/nxg.0000000000000378.
Full textAbstract:
ObjectiveTo evaluate a new tool to aid interpretation of copy number variants (CNVs) in individuals with neurodevelopmental disabilities.MethodsCritical exon indexing (CEI) was used to identify genes with critical exons (CEGs) from clinically reported CNVs, which may contribute to neurodevelopmental disorders (NDDs). The 742 pathogenic CNVs and 1,363 variants of unknown significance (VUS) identified by chromosomal microarray analysis in 5,487 individuals with NDDs were subjected to CEI to identify CEGs. CEGs identified in a subsequent random series of VUS were evaluated for relevance to CNV interpretation.ResultsCEI identified a total of 2,492 unique CEGs in pathogenic CNVs and 953 in VUS compared with 259 CEGs in 6,965 CNVs from 873 controls. These differences are highly significant (p < 0.00001) whether compared as frequency, average, or normalized by CNV size. Twenty-one percent of VUS CEGs were not represented in Online Mendelian Inheritance in Man, highlighting limitations of existing resources for identifying potentially impactful genes within CNVs. CEGs were highly correlated with other indices and known pathways of relevance. Separately, 136 random VUS reports were reevaluated, and 76% of CEGs had not been commented on. In multiple cases, further investigation yielded additional relevant literature aiding interpretation. As one specific example, we discuss GTF2I as a CEG, which likely alters interpretation of several reported duplication VUS in the Williams-Beuren region.ConclusionsApplication of CEI to CNVs in individuals with NDDs can identify genes of potential clinical relevance, aid laboratories in effectively searching the clinical literature, and support the clinical reporting of poorly annotated VUS.
35
Williams, Monique, and Prue Talbot. "Design Features in Multiple Generations of Electronic Cigarette Atomizers." International Journal of Environmental Research and Public Health 16, no. 16 (August 14, 2019): 2904. http://dx.doi.org/10.3390/ijerph16162904.
Full textAbstract:
The design of electronic cigarette (EC) atomizing units has evolved since their introduction over 10 years ago. The purpose of this study was to evaluate atomizer design in ECs sold between 2011–2017. Atomizers from 34 brands representing three generations of ECs were dissected and photographed using a stereoscopic microscope. Five distinct atomizer design categories were identified in first generation products (cig-a-like/cartomizer) and three categories were found in the third generation. Atomizers in most cig-a-like ECs contained a filament, thick wire, wire joints, air-tube, wick, sheath, and fibers, while some later models lacked some of these components. Over time design changes included an increase in atomizer size; removal of solder joints between wires; removal of Polyfil fibers; and removal of the microprocessor from Vuse. In second and third generation ECs, the reservoirs and batteries were larger, and the atomizing units generally lacked a thick wire, fibers, and sheath. These data contribute to an understanding of atomizer design and show that there is no single design for ECs, which are continually evolving. The design of the atomizer is particularly important as it affects the performance of ECs and what transfers into the aerosol.
36
Vandamme, François. "L'information des travailleurs dans les grandes firmes: L'approche spécifique de la CEE." Articles 39, no. 1 (April 12, 2005): 51–76. http://dx.doi.org/10.7202/050003ar.
Full textAbstract:
La Commission de la Communauté économique européenne estime que la Communauté doit exercer ses responsabilités politiques par l'adoption d'une réglementation communautaire en vue d'assurer l'information et la consultation des travailleurs des grandes firmes à sièges multiples au sujet des projets du groupe. Le Traite instituant la Communauté permet d'édicter une réglementation contraignante allant plus loin que les codes de conduite volontaires tout en s'inscrivant dans leur prolongement.
37
Rouchi, Camille. "Réflexivité et recherche-action en contrat CIFRE, quand les contraintes du terrain deviennent opportunités." Nouvelles perspectives en sciences sociales 13, no. 1 (March 21, 2018): 211–24. http://dx.doi.org/10.7202/1044016ar.
Full textAbstract:
Cet article propose de communiquer sur un retour d’expérience et d’engager une réflexion sur la réalisation d’une recherche critique en sciences humaines financée par son terrain de recherche. L’ambition est ainsi d’adopter un double point de vue : celui de l’universitaire et du professionnel. Cette posture n’étant pas sans inconvénient puisqu’elle implique de se poser la question à la fois des attentes et des besoins du monde professionnel et scientifique dans le cadre de ce qui relève de la recherche-action. Être engagé par son terrain, c’est se confronter à la contradiction des temporalités et de multiples intérêts. Nous verrons que l’élaboration de l’objet de recherche, l’obtention des données et les modalités de restitution, interpelle la nécessité d’adopter un point de vue réflexif et pour le chercheur de transformer les contraintes en opportunités.
38
SIBENALI, Mohammed Yassine, and Chada EZZOUIRCHI. "Les Pathologies psychoaffectives dans l´équation de l´abandon scolaire." Journal of Quality in Education 11, no. 17 (May 5, 2021): 302–27. http://dx.doi.org/10.37870/joqie.v11i17.261.
Full textAbstract:
Cette recherche se focalisera sur un des problèmes dont souffre l’enseignement au Maroc, celui du décrochage scolaire. Ce dernier constitue un fragment qui manque au puzzle éducatif marocain. Depuis ces dernières années, les raisons du décrochage scolaire sont multiples et nécessitent un souffle de longue haleine. Plusieurs initiatives académiques et associatives sont proposées mais jugées insuffisantes vue l´ampleur et la vitesse vertigineuse que commence à prendre ce phénomène.
39
Idos, Gregory E., Allison W. Kurian, Charité Ricker, Duveen Sturgeon, Julie O. Culver, Kerry E. Kingham, Rachel Koff, et al. "Multicenter Prospective Cohort Study of the Diagnostic Yield and Patient Experience of Multiplex Gene Panel Testing For Hereditary Cancer Risk." JCO Precision Oncology, no. 3 (December 2019): 1–12. http://dx.doi.org/10.1200/po.18.00217.
Full textAbstract:
Purpose Multiplex gene panel testing (MGPT) allows for the simultaneous analysis of germline cancer susceptibility genes. This study describes the diagnostic yield and patient experiences of MGPT in diverse populations. Patients and Methods This multicenter, prospective cohort study enrolled participants from three cancer genetics clinics—University of Southern California Norris Comprehensive Cancer Center, Los Angeles County and University of Southern California Medical Center, and Stanford Cancer Institute—who met testing guidelines or had a 2.5% or greater probability of a pathogenic variant (N = 2,000). All patients underwent 25- or 28-gene MGPT and results were compared with differential genetic diagnoses generated by pretest expert clinical assessment. Post-test surveys on distress, uncertainty, and positive experiences were administered at 3 months (69% response rate) and 1 year (57% response rate). Results Of 2,000 participants, 81% were female, 41% were Hispanic, 26% were Spanish speaking only, and 30% completed high school or less education. A total of 242 participants (12%) carried one or more pathogenic variant (positive), 689 (34%) carried one or more variant of uncertain significance (VUS), and 1,069 (53%) carried no pathogenic variants or VUS (negative). More than one third of pathogenic variants (34%) were not included in the differential diagnosis. After testing, few patients (4%) had prophylactic surgery, most (92%) never regretted testing, and most (80%) wanted to know all results, even those of uncertain significance. Positive patients were twice as likely as negative/VUS patients (83% v 41%; P < .001) to encourage their relatives to be tested. Conclusion In a racially/ethnically and socioeconomically diverse cohort, MGPT increased diagnostic yield. More than one third of identified pathogenic variants were not clinically anticipated. Patient regret and prophylactic surgery use were low, and patients appropriately encouraged relatives to be tested for clinically relevant results.
40
Madoré, F., and G. Glasze. "L'essor des ensembles résidentiels clos en France : un phénomène en expansion et aux ressorts multiples." Geographica Helvetica 58, no. 4 (December 31, 2003): 325–39. http://dx.doi.org/10.5194/gh-58-325-2003.
Full textAbstract:
Abstract. Les ensembles résidentiels clos ne sont pas un phénomène entierement nouveau en France. Toutefois, les années quatre-vingt-dix marquent un essor important du phénomène et sa relative banalisation, aussi bien du point du vue géographique que social. Les facteurs qui rendent compte du phénomène relèvent à la fois de la structure de l'offre et de la demande. L'offre met en jeu un double processus, d'innovation et de mimétisme, où les promoteurs-construeteurs réalisent un produit immobilier qui doit les distinguer des concurrents. Quant à la demande, elle renvoie à trois processus fortement interdépendants: une logique extensive d'appropriation de l'habitat collectif, mais aussi l'affirmation d'un double mécanisme de sécurisationsocialisation. Enfin, cette progression des domaines résidentiels clos en France permet de discuter et de contester l'hypothèse d'une américanisation des espaces urbains.
41
Rius Dalmau, María I. "Enseigner et apprendre les unités parémiologiques d’une langue étrangère: du XIXe siècle à nos jours." Çédille 10 (April 1, 2014): 333. http://dx.doi.org/10.21071/ced.v10i.5567.
Full textAbstract:
Nous visons ici une étude de certains manuels pour l’enseignement du français langue étrangère parus en Espagne au long du XIXe siècle contenant une partie consacrée aux dictons, idiotismes et proverbes. Nous nous demandons quel est le rôle de ces d’outils du point de vue de la motivation de l’élève face à l’acquisition de la nouvelle langue et quelle a été leur efficacité du point de vue didactique. Certes, la psychologie populaire a un poids remarquable dans l’enseignent en général et un particulier dans celui des langues. L’univers de croyances a joué dès jadis son rôle. En plus, à nos jours, l’interculturalité et la diversité créent chez les apprenants d’une nouvelle langue des identités complexes et mouvantes. Alors, l’apprentissage des langues-cultures se fonde sur la reliance afin d’arriver à accepter des identités multiples ainsi que de pouvoir profiter les résultats atteints au long de l’histoire.
42
Golebiowski, J. "Bases neurologiques de l’olfaction et de ses déficits." European Psychiatry 30, S2 (November 2015): S31. http://dx.doi.org/10.1016/j.eurpsy.2015.09.092.
Full textAbstract:
L’étude scientifique des sens chimiques que sont l’odorat et le goût a été longtemps négligée par rapport à celle de la vue et de l’ouïe. L’odorat a souvent été considéré comme un sens mineur, ramenant l’Homme à son animalité. Les organes récepteurs de la vue et de l’ouïe sont beaucoup plus facilement identifiables et accessibles à l’investigation anatomique que ne le sont la muqueuse olfactive et les papilles gustatives. L’existence et le caractère fonctionnel chez l’Homme d’une perception spécifique aux phéromones étaient encore récemment discutés. Depuis l’inhalation d’une molécule jusqu’à sa perception consciente ou inconsciente, les mécanismes sont extrêmement complexes et font intervenir de multiples protagonistes. Cette présentation passera en revue les connaissances actuelles sur les mécanismes de la perception olfactive, en se focalisant sur les étapes impliquant les molécules odorantes, puis, de manière plus générale, abordera les grandes étapes qui mènent de la molécule à l’odeur.
43
Basiliere, Michele, Stephanie Woods, Heidi Owen, Lindsay Dohany, Lisa McDaniel, and Nicholas Wisniewski. "Hereditary cancer testing in an ethnically diverse U.S. population." Journal of Clinical Oncology 39, no. 15_suppl (May 20, 2021): 10579. http://dx.doi.org/10.1200/jco.2021.39.15_suppl.10579.
Full textAbstract:
10579 Background: The clinical utility of hereditary cancer multigene testing is well-established. Most testing has been performed in the White European population, with a relative shortage of data in other ethnic groups. Evaluation of hereditary cancer variants within diverse ethnic populations is important to drive accurate variant interpretation. This study aims to review the outcomes of hereditary cancer testing in an ethnically diverse U.S. population. Methods: We conducted a retrospective analysis of 8,888 test results from a 31-gene hereditary cancer test using next-generation sequencing with copy number variant analysis. Results were separated into seven categories based on the ethnicity selected on the test requisition: African American (AA), Asian (A), Ashkenazi Jewish (AJ), Hispanic (H), White (W), Other (O), and Unknown (U). O was used for any handwritten ethnicity or if multiple ethnicities were selected and U if no ethnicity was chosen. We quantified the number of negative, positive (pathogenic or likely pathogenic (P/LP) variant) and variant of uncertain significant (VUS) results for each ethnic group. We tallied the gene and variant for each result with a positive, negative or VUS. We used a Fisher's Exact test and Bonferroni-adjusted p-values to account for multiple hypothesis testing. Results: Of the 8,888 orders reviewed, 45% were non-White ethnic groups. The P/LP variant rate was lower for AA (4%, p=2e-04) compared to W (9%). The VUS rate was higher for O, AA and A (48%, 56%, and 57%; p=0.0045, 3.1e-17 and 4.8e-06, respectively), compared to 38% in W. Lower negative rates were found in A and AA (37% and 40%; p=0.00024 and 9.4e-10, respectively), and trending lower in O (46%, p=0.0097), compared to 58% for W. The VUS rate for H is 41% (p value = 0.095). Conclusions: Our results suggest that non-Whites may be at a disadvantage when it comes to hereditary cancer multigene testing due to the higher rate of VUS results. The inverse correlation between the overall rates of VUS and negative results when comparing these populations suggests there may be limited variant information for the non-White population in medical literature and available databases. This underrepresentation may make it more difficult to accurately characterize a variant. Despite the small sample size, these findings are consistent with previous publications; however, gene specific outcomes could not be evaluated. This finding suggests that providers could give these patients uninformative results more often, which has potential to impact screening protocols for these families. More research is needed to understand the impact of variant classification across ethnicities to decrease health disparities.
44
Prophet, Malshundria, Kun Xiao, Theodore Stewart Gourdin, Rebecca J. Nagy, Lesli Ann Kiedrowski, Elisa Ledet, Guru Sonpavde, A. Oliver Sartor, and Michael B. Lilly. "Detection of actionable BRAF missense mutations by ctDNA-based genomic analysis in prostate cancer." Journal of Clinical Oncology 36, no. 6_suppl (February 20, 2018): 306. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.306.
Full textAbstract:
306 Background: Activating BRAF fusion proteins are rare in prostate cancer (PCa) patients. Driver missense BRAF mutations have not been reported in detail in this population. Methods: We examined ctDNA-derived genomic profiles (Guardant 360) from 2,721 unique PCa patients, to identify BRAF genomic anomalies (SNVs, amplification). The ctDNA results were compared with PCa tissue-based genomics from the TCGA database (1,851 unique patients). Results: BRAF missense mutations were found in 76 ctDNA patients (2.8%) and were from all known mutation classes (I, II, III) as well as variants of unknown significance (VUSs). Only 4 patients had the V600E mutation. Multiple examples of known, autonomously active, non-canonical mutations were found (27), including K601E (12), G469A (5), D594G (2), and G466E (2). There were 45 VUSs. Mutations were primarily clonal but subclonal mutations were also found. In addition BRAF was commonly amplified, usually in the presence of multiple other amplified genes. BRAF missense mutations were more common with ctDNA than TCGA (2.8% vs 1.4%). Neither dataset identified frequent V600E mutations (ctDNA: 4/2,721; TCGA 1/1,851). However patients with the same non-canonical BRAF mutations were found in each dataset (K601E, G469A, G466E, D594G). Each dataset contained unique mutations found in only one patient. BRAF mutations potentially treatable with BRAF or MEK inhibitors (class I, II) were about half of all mutations (ctDNA 40.8%; TCGA 50%). We treated a PCa patient with a clonal BRAF(G469A) mutation with targeted therapy. The patient was resistant to multiple lines of hormonal and cytotoxic therapy. Trametinib produced a clinical and RECIST response. Conclusions: ctDNA-based genomic analysis identified multiple BRAF amplifications and missense SNVs in PCa patients. SNVs are largely non-canonical, but include known activating mutations that could act as drivers. The analysis also identified more BRAF missense mutations than did tissue genomic profiling, but the mutational landscape, overall frequency of mutations was similar with either method. ctDNA-based genomic profiling can identify actionable BRAF driver mutations that may respond to MEK and BRAF inhibitors.
45
Beligné, Max. "Des espaces dans la détection de métaphores." Nouvelles perspectives en sciences sociales 12, no. 2 (August 22, 2017): 69–99. http://dx.doi.org/10.7202/1040905ar.
Full textAbstract:
Cet article propose un état des lieux des méthodes de détection manuelle et automatique de métaphores en vue par la suite d’une meilleure compréhension d’une science sociale. L’objectif est tout d’abord d’avoir une vue synthétique et organisée des différentes théories et méthodologies (formant à chaque fois des espaces possibles différents de détection) pour mieux orienter la recherche sur cette question difficile. Ensuite, chaque espace a été approfondi pour mieux comprendre ses potentialités, ses limites et ses articulations avec les autres espaces. L’aspect protéiforme des métaphores oblige à cet exercice important à la fois de synthèse et de détail, car c’est en combinant les spécialisations des différents espaces qu’on pourra améliorer la détection globale de ce trope aux définitions multiples. Enfin, il s’agit, à travers cet article, de reconstruire un cadre intégrateur pour appréhender simultanément les détections manuelles et automatiques, car elles sont souvent traitées de manière indépendante du fait des spécialisations alors qu’elles traitent d’un problème commun.
46
Jiang, Yue, Ting Tian, Chengxiao Yu, Wen Zhou, Junzhe Yang, Yifeng Wang, Yang Wen, et al. "Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population." BioMed Research International 2020 (August 17, 2020): 1–11. http://dx.doi.org/10.1155/2020/6739823.
Full textAbstract:
BRCA1 and BRCA2 as important DNA repair genes have been thoroughly investigated in abundant studies. The potential relationships of BRCA1/2 pathogenic variants between multicancers have been verified in Caucasians but few in Chinese. In this study, we performed a two-stage study to screen BRCA1/2 pathogenic variants or variants of uncertain significance (VUS) with 7580 cancer cases and 4874 cancer-free controls, consisting of a discovery stage with 70 familial breast cancer cases and a subsequent validation stage with 7510 cases (3217 breast cancer, 1133 cervical cancer, 2044 hepatocellular carcinoma, and 1116 colorectal cancer). 48 variants were obtained from 70 familial breast cancer cases after BRCA1/2 exon detection, and finally, 20 pathogenic variants or VUS were selected for subsequent validation. Four recurrent variants in sporadic cases (BRCA1 c.4801A>T, BRCA1 c.3257del, BRCA1 c.440del, and BRCA2 c.7409dup) were identified and three of them were labeled Class 5 by ENIGMA. Two variants (BRCA1 c.3257del and c.440del) were specific in breast cancer cases, while BRCA2 c.7409dup and c.4307T>C were detected in two hepatocellular carcinoma patients and the BRCA1 c.4801A>T variant in one cervical cancer patient, respectively. Moreover, BRCA1 c.3257del was the most frequent variant observed in Chinese sporadic breast cancer and showed increased proliferation of BRCA1c.3257del-overexpressing triple-negative breast cancer cell lines (MDA-MB-231) in vitro. In addition to the known founder deleterious mutations, our findings highlight that the recurrently pathogenic variants in breast cancer cases could be taken as candidate genetic screening loci for a more efficient genetic screening of the Chinese population.
47
Krenn, Martin, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, et al. "Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes." Journal of Medical Genetics 57, no. 9 (February 21, 2020): 624–33. http://dx.doi.org/10.1136/jmedgenet-2019-106658.
Full textAbstract:
BackgroundThe genetic architecture of non-acquired focal epilepsies (NAFEs) becomes increasingly unravelled using genome-wide sequencing datasets. However, it remains to be determined how this emerging knowledge can be translated into a diagnostic setting. To bridge this gap, we assessed the diagnostic outcomes of exome sequencing (ES) in NAFE.Methods112 deeply phenotyped patients with NAFE were included in the study. Diagnostic ES was performed, followed by a screen to detect variants of uncertain significance (VUSs) in 15 well-established focal epilepsy genes. Explorative gene prioritisation was used to identify possible novel candidate aetiologies with so far limited evidence for NAFE.ResultsES identified pathogenic or likely pathogenic (ie, diagnostic) variants in 13/112 patients (12%) in the genes DEPDC5, NPRL3, GABRG2, SCN1A, PCDH19 and STX1B. Two pathogenic variants were microdeletions involving NPRL3 and PCDH19. Nine of the 13 diagnostic variants (69%) were found in genes of the GATOR1 complex, a potentially druggable target involved in the mammalian target of rapamycin (mTOR) signalling pathway. In addition, 17 VUSs in focal epilepsy genes and 6 rare variants in candidate genes (MTOR, KCNA2, RBFOX1 and SCN3A) were detected. Five patients with reported variants had double hits in different genes, suggesting a possible (oligogenic) role of multiple rare variants.ConclusionThis study underscores the molecular heterogeneity of NAFE with GATOR1 complex genes representing the by far most relevant genetic aetiology known to date. Although the diagnostic yield is lower compared with severe early-onset epilepsies, the high rate of VUSs and candidate variants suggests a further increase in future years.
48
Hamilton, Jada G., Jessica M. Long, Amanda C. Brandt, Jamie Brower, Heather Symecko, Erin E. Salo-Mullen, Stephanie N. Christian, et al. "Patients’ Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing." JCO Precision Oncology, no. 3 (December 2019): 1–14. http://dx.doi.org/10.1200/po.18.00300.
Full textAbstract:
PURPOSE Germline CDH1 pathogenic variants (PV) are associated with hereditary diffuse gastric cancer and lobular breast cancer. Although prevalence of CDH1 PV is low in the general population, detection of these variants is increasing with the growing use of multigene panel testing. Little is known about the experiences of individuals tested for CDH1 variants in the multigene panel testing era. METHODS Participants recruited from the Prospective Registry of Multiplex Testing completed a cross-sectional self-report survey regarding CDH1 genetic testing experiences, medical management, and psychosocial adaptation. RESULTS Discordance existed in interpretations of CDH1 results; 13.3% of cases had disagreements in variant classifications among commercial laboratories, and 21.4% had disagreements between participant self-report and ClinVar classification. Survey data were available from 57 individuals reporting either PV (n = 16) or variants of uncertain significance (VUS; n = 41). Those with PV were more likely than those with VUS to report receiving a recommendation for prophylactic gastrectomy, although only 40.0% of those with PV received this recommendation. Participants with VUS were less satisfied with their health care providers’ knowledge and reported less CDH1 knowledge, distress, and worry about discrimination. Participants with PV perceived greater breast cancer risks, but similar gastric cancer risks, as those with VUS. CONCLUSION Few individuals with CDH1 PV report receiving recommendations for prophylactic gastrectomy, and no differences in perceived gastric cancer risk were observed based on participants’ CDH1 results, suggesting serious unmet informational needs.
49
Rabideau, Marina M., Hannah J. White, Michael Anderson, and Anne Deucher. "Clinical Testing of Five Hereditary Hemochromatosis-Related Genes: Preliminary Evidence for the Benefit of Next Generation Sequencing." Blood 124, no. 21 (December 6, 2014): 1355. http://dx.doi.org/10.1182/blood.v124.21.1355.1355.
Full textAbstract:
Abstract Introduction Hereditary hemochromatosis (HH) is a genetic form of iron overload. In cases of excessive iron deposition, serious clinical manifestations may occur, such as liver damage, cardiomyopathy, diabetes, and arthritis. First described in 1996, the HFE gene leads to autosomal recessive HH with reduced penetrance. In other words, two mutations in the HFE gene need to be present in a patient in order to develop symptoms of HFE-related HH, but not all patients with two mutations are affected. In the last 15 years, 4 additional genes were discovered that cause HH: HAMP (hepcidin), HFE2 (hemojuvelin), SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2). HAMP, HFE2 and TFR2 mutations are inherited in a recessive pattern, whereas SLC40A1 mutations are inherited in a dominant pattern. HAMP and HFE2 mutations cause a severe, early-onset form of HH. There is some evidence that sequence changes in HAMP, HFE2 and TFR2 may interact with homozygous HFE mutations, causing a more severe phenotype. Current HH testing guidelines only exist for the most common HFE mutations (C282Y and H63D), with no specific recommendations regarding full gene sequencing for any of the HH genes. Recent research suggests that sequential sequencing may be beneficial in patients who test negative for the most common HFE mutations, exhibit a more severe or early-onset phenotype compared to what is normally seen in HFE-related HH, and/or are of non-Caucasian ethnicity. Next Generation Sequencing (NGS) is a new high-throughput sequencing technology that allows testing of multiple genes concurrently and can detect rare and novel HH-causing mutations that are not typically assayed using targeted methods. However, sequencing can also identify sequence changes known as variants of uncertain significance (VUS) - changes that have not yet been characterized as disease-causing or benign. This abstract summarizes the results of clinical NGS for the five HH-related genes, and shows preliminary evidence as to its’ increased diagnostic yield for HH diagnosis. Methods Patients were referred for clinical full gene sequencing of HFE, HAMP, HFE2, SLC40A1, and/or TFR2 using Next Generation Sequencing (Illumina MiSeq). Results from patients with a clinical indication of iron overload or HH who were tested from 9/2013 - 7/2014 were reviewed. The diagnostic yield of sequencing for all five HH genes was determined. Patients who only had sequencing for a subset of the five genes were analyzed separately. Patients who had testing for a familial mutation were excluded from the review. Results In total, 56 patients underwent HH-related NGS. Thirty-five (62.5%) were males and 21 (37.5%) were females. Ages ranged from 3-77yrs (avg. 40.9yrs). Fifty-one percent were Caucasian, 9% Hispanic, 4% African American, 16% Asian, and 20% not specified. Forty-one patients were tested for all five genes. HH-causing mutations were found in 9 patients: 5 (12.2%) were c.187C>G (p.H63D) HFE homozygous, 1 (2.4%) was c.845G>A (p.C282Y) HFE homozygous, and 3 (7.3%) had mutations in non-HFE genes: SLC40A1 c.430A>T (p.N144Y) heterozygous, SLC40A1 c.533G>A (p.R178Q) heterozygous, and HFE2 c.959G>T (p.R178Q) homozygous. Nine patients (22%) were heterozygous carriers of an HFE mutation. One or more VUSes were found in 5 patients (12.2%). In 18 patients (43.9%), no pathogenic mutations or VUSes were found. There were 15 additional patients who only had sequencing of 1-3 of the available genes. Results for those patients consisted of 1 H63D HFE homozygote, 3 HFE heterozygotes (2 H63D and 1 C282Y) and 1 VUS. Conclusions The new sequencing technology of NGS makes it possible to test multiple genes at the same time. In this sample, sequencing of HFE, HAMP, HFE2, SLC40A1, and TFR2 genes resulted in an additional diagnostic yield compared to HFE C282Y and H63D testing alone. In patients who have a genetic explanation for their HH, management can be personalized based on genotype-phenotype correlation (e.g. N144Y SLC40A1 mutations may lead to reduced phlebotomy tolerance) and at-risk family members can be screened. In addition, all patients in this sample with non-HFE positive results were reportedly Caucasian, highlighting the benefit of sequencing regardless of ethnic background. This preliminary study is an important step toward gaining a better understanding of the genetics of HH. Ultimately, NGS data may make it possible to update current clinical guidelines for HH. Disclosures Rabideau: Invitae: Employment, Equity Ownership.
50
Abu-Goura, Ahmad. "Dixième annivèrsaire des Protocoles additionnels de 1977-Point de vue jordanien." Revue Internationale de la Croix-Rouge 69, no. 765 (June 1987): 304–8. http://dx.doi.org/10.1017/s0035336100088778.
Full textAbstract:
Vingt ans après l'adoption des quatre Conventions de Genève de 1949, les organisations humanitaires concernées, notamment le CICR, ont ressenti la nécessité de développer ces traités humanitaires. Au terme de plusieurs rencontres préliminaires avec des experts de différents gouvernements et de Sociétés nationales, le CICR est parvenu à la conclusion qu'il n'était pas approprié de réviser les Conventions de 1949, mais qu'il conviendrait d'élaborer deux Protocoles additionnels. Le premier serait consacré aux «conflits armés internationaux», le deuxième aux «conflits armés non internationaux». L'un et l'autre des Protocoles étaient destinés à servir de complément, ou de supplément, aux Conventions de Genève. Ils sont le résultat des longues et multiples discussions engagées entre les hauts responsables de la Croix-Rouge et du Croissant-Rouge et les représentants gouvernementaux qui, ensemble, ont tenté de trouver de nouvelles solutions face aux lacunes des Conventions de Genève, prenant ainsi en compte les développements intervenus sur la scène politique mondiale.