186 research outputs found
Ătude d'association gĂ©nĂ©tique entre le gĂšne FLG et les gĂšnes de sa voie biologique et les maladies atopiques
Le gĂšne filaggrine (FLG) a beaucoup Ă©tĂ© Ă©tudiĂ© pour son implication au niveau de la dermatite atopique (DA) et de l'asthme. Le but de l'Ă©tude est d'effectuer une Ă©tude d'association entre FLG ainsi que le membre 2 de la famille filaggrine (FLG2) avec l'asthme, l'atopie et l'asthme allergique avec ou sans prĂ©sence de DA dans quatre Ă©tudes d'asthme indĂ©pendantes. L'Ă©tude d'association a aussi Ă©tĂ© exĂ©cutĂ©e avec des gĂšnes de la voie biologique de FLG ayant une fonction documentĂ©e au niveau de sa transcription. Une analyse combinĂ©e de quatre Ă©tudes d'asthme indĂ©pendantes a Ă©galement Ă©tĂ© rĂ©alisĂ©e. Finalement, une Ă©tude d'interaction a Ă©tĂ© exĂ©cutĂ©e entre les polymorphismes des gĂšnes de cette voie biologique. Les rĂ©sultats montrent des associations significatives pour le gĂšne POU classe 2 homeobox 3 (POU2F3) avec les diffĂ©rents phĂ©notypes atopiques. Ces rĂ©sultats suggĂšrent l'importance de considĂ©rer la voie biologique des gĂšnes d'intĂ©rĂȘt dans les Ă©tudes d'association en suite logique Ă l'approche par gĂšne candidat. Cette approche peut conduire Ă la dĂ©couverte de nouveaux gĂšnes associĂ©s aux maladies atopiques ce qui aiderait Ă mieux dĂ©finir la biologie molĂ©culaire de ce trait
Le lien entre les facteurs individuels, le port dâarmes Ă feu et lâutilisation criminelle dâarmes Ă feu
Ce mĂ©moire de maĂźtrise vise Ă identifier les liens rĂ©els et artificiels entre les facteurs individuels et lâutilisation criminelle dâarmes Ă feu. Plus spĂ©cifiquement, ce mĂ©moire vise Ă identifier les liens directs et indirects entre les caractĂ©ristiques individuelles des dĂ©linquants les plus susceptibles dâutiliser criminellement leurs armes Ă feu lorsque le port dâarmes Ă feu est intĂ©grĂ© comme variable mĂ©diatrice. Pour ce faire, des analyses de rĂ©gression logistique sont effectuĂ©es sur un Ă©chantillon de 235 dĂ©linquants auprĂšs desquels un sondage a Ă©tĂ© rĂ©alisĂ©. Trois analyses de rĂ©gression logistique ont Ă©tĂ© effectuĂ©es afin de statuer sur la prĂ©sence dâun effet mĂ©diateur du port dâarmes Ă feu : dâabord, entre les caractĂ©ristiques individuelles et lâutilisation criminelle dâarmes Ă feu, ensuite entre les caractĂ©ristiques individuelles et le port dâarmes Ă feu et, finalement, entre les caractĂ©ristiques individuelles et lâutilisation criminelle dâarmes Ă feu lorsque contrĂŽlĂ© par le port dâarmes Ă feu. Les rĂ©sultats dâanalyses de rĂ©gression logistique rĂ©vĂšlent que le port dâarmes Ă feu agit comme variable mĂ©diatrice auprĂšs de la vente de cocaĂŻne, de la consommation dâalcool, dâavoir dĂ©jĂ Ă©tĂ© la cible dâun coup de feu et du port dâarmes Ă feu par les pairs. Les liens entre ces facteurs et lâutilisation criminelle dâarmes Ă feu sont donc indirects, sauf pour le port dâarmes Ă feu par les pairs qui conserve des liens Ă la fois directs et indirects avec lâutilisation criminelle dâarmes Ă feu. Par contre, les analyses de rĂ©gression logistique rĂ©vĂšlent Ă©galement des changements dans les liens entre la consommation de cannabis et lâutilisation criminelle dâarmes Ă feu ainsi quâentre le risque perçu dâĂȘtre la cible dâun coup de feu de la part dâun policier et lâutilisation criminelle dâarmes Ă feu lorsque contrĂŽlĂ© par le port dâarmes Ă feu. Il est donc possible que le port dâarmes Ă feu ait un rĂŽle de modĂ©rateur auprĂšs de ces variables. Ainsi, il agirait comme mĂ©diateur pour certaines variables et comme modĂ©rateur pour dâautres. Ces rĂ©sultats appuient lâimportance dâavoir une approche intĂ©grative de la perspective situationnelle et des prĂ©dispositions individuelles, car certaines relations sont devenues statistiquement significatives seulement une fois que le port dâarmes Ă feu est intĂ©grĂ© dans les analyses, alors que dâautres se sont vu ĂȘtre grandement modifiĂ©es.This memoire aims to identify the real and artificial links between individual factors and the criminal use of firearms. More specifically, this memoire aims to identify the direct and indirect links between the individual characteristics of the offenders most likely to criminally use their firearms when the carrying of firearms is integrated as a mediating variable. Logistic regression analyzes are performed on a sample of 235 offenders from whom a survey was conducted. Three logistic regression analyzes were conducted to determine the presence of a mediating effect of the carrying of firearms: first, between individual characteristics and the criminal use of firearms, then between individual characteristics and the carrying of firearms and, ultimately, between individual characteristics and the criminal use of firearms when controlled by the carrying of firearms. Logistic regression results show that carrying a firearm acts as a mediating variable for cocaine sales, alcohol consumption, having been shot at and firearms carrying by peers. The links between these factors and the criminal use of firearms are therefore indirect, except for the carrying of firearms by peers who maintain both direct and indirect links to the criminal use of firearms. However, logistic regression analyzes also reveal changes in the links between cannabis use and the criminal use of firearms, as well as in the perceived risk of being shot at by a police officer and the criminal use of firearms when controlled by the carrying of firearms. It is therefore possible that the carrying of firearms has a moderating role with these variables. Thus, firearm carrying would act as a mediator for some variables and as moderator for others. These results support the importance of having an integrative approach to the situational perspective and individual predispositions, as some relationships have become statistically significant only once the carrying of firearms is incorporated into the analyzes, while others have been greatly modified
Association between filaggrin family member genes, asthma, atopy and atopic asthma with atopic dermatitis history in the subjects from the Saguenay-Lac-Saint-Jean founder population
Les recherches avec les enfants et les jeunes en difficulté : spécificités éthiques et méthodologiques
Les rĂ©flexions autour de lâassociation Ă la recherche de personnes concernĂ©es ne sont pas nouvelles en anthropologie, en sociologie, en sciences de lâĂ©ducation. Elles Ă©mergent, Ă partir des annĂ©es 1970-1980, face Ă des interrogations sur la capacitĂ© des chercheurs de rendre compte de terrains dits « difficiles », qui sont dâabord « difficiles Ă dĂ©crire et Ă penser ». Ces rĂ©flexions visent Ă rĂ©habiliter les individus, comme des sujets pensants et rĂ©flexifs, et les chercheurs, comme des acteurs..
Green Edge ice camp campaigns : understanding the processes controlling the under-ice Arctic phytoplankton spring bloom
The Green Edge initiative was developed to investigate the processes controlling the primary productivity and fate of organic matter produced during the Arctic phytoplankton spring bloom (PSB) and to determine its role in the ecosystem. Two field campaigns were conducted in 2015 and 2016 at an ice camp located on landfast sea ice southeast of Qikiqtarjuaq Island in Baffin Bay (67.4797ââN, 63.7895ââW). During both expeditions, a large suite of physical, chemical and biological variables was measured beneath a consolidated sea-ice cover from the surface to the bottom (at 360âm depth) to better understand the factors driving the PSB. Key variables, such as conservative temperature, absolute salinity, radiance, irradiance, nutrient concentrations, chlorophyll a concentration, bacteria, phytoplankton and zooplankton abundance and taxonomy, and carbon stocks and fluxes were routinely measured at the ice camp. Meteorological and snow-relevant variables were also monitored. Here, we present the results of a joint effort to tidy and standardize the collected datasets, which will facilitate their reuse in other Arctic studies
Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies
Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (Nâ=â27) and telomeric rearrangements (Nâ=â15), both mainly observed in myeloid disorders; and unbalanced non-telomeric rearrangements (Nâ=â39), mainly observed in lymphoid proliferations and frequently associated with a highly complex karyotype. The 1p36 rearrangement was isolated in 12 cases, mainly myeloid disorders. The breakpoints on 1p36 were more widely distributed than previously reported, but with identifiable rare breakpoint cluster regions, such as the TP73 locus. We also found novel partner loci on 1p36 for the known multi-partner genes HMGA2 and RUNX1. We precised the common terminal 1p36 deletion, which has been suggested to have an adverse prognosis, in B-cell lymphomas [follicular lymphomas and diffuse large B-cell lymphomas with t(14;18)(q32;q21) as well as follicular lymphomas without t(14;18)]. Intrachromosomal telomeric repetitive sequences were detected in at least half the cases of telomeric rearrangements. It is unclear how the latter rearrangements occurred and whether they represent oncogenic events or result from chromosomal instability during oncogenesis
Global, regional, and national disability-adjusted life-years (DALYs) for 333 diseases and injuries and healthy life expectancy (HALE) for 195 countries and territories, 1990â2016: a systematic analysis for the Global Burden of Disease Study 2016
BACKGROUND: Measurement of changes in health across locations is useful to compare and contrast changing epidemiological patterns against health system performance and identify specific needs for resource allocation in research, policy development, and programme decision making. Using the Global Burden of Diseases, Injuries, and Risk Factors Study 2016, we drew from two widely used summary measures to monitor such changes in population health: disability-adjusted life-years (DALYs) and healthy life expectancy (HALE). We used these measures to track trends and benchmark progress compared with expected trends on the basis of the Socio-demographic Index (SDI).
METHODS: We used results from the Global Burden of Diseases, Injuries, and Risk Factors Study 2016 for all-cause mortality, cause-specific mortality, and non-fatal disease burden to derive HALE and DALYs by sex for 195 countries and territories from 1990 to 2016. We calculated DALYs by summing years of life lost and years of life lived with disability for each location, age group, sex, and year. We estimated HALE using age-specific death rates and years of life lived with disability per capita. We explored how DALYs and HALE differed from expected trends when compared with the SDI: the geometric mean of income per person, educational attainment in the population older than age 15 years, and total fertility rate.
FINDINGS: The highest globally observed HALE at birth for both women and men was in Singapore, at 75·2 years (95% uncertainty interval 71·9-78·6) for females and 72·0 years (68·8-75·1) for males. The lowest for females was in the Central African Republic (45·6 years [42·0-49·5]) and for males was in Lesotho (41·5 years [39·0-44·0]). From 1990 to 2016, global HALE increased by an average of 6·24 years (5·97-6·48) for both sexes combined. Global HALE increased by 6·04 years (5·74-6·27) for males and 6·49 years (6·08-6·77) for females, whereas HALE at age 65 years increased by 1·78 years (1·61-1·93) for males and 1·96 years (1·69-2·13) for females. Total global DALYs remained largely unchanged from 1990 to 2016 (-2·3% [-5·9 to 0·9]), with decreases in communicable, maternal, neonatal, and nutritional (CMNN) disease DALYs offset by increased DALYs due to non-communicable diseases (NCDs). The exemplars, calculated as the five lowest ratios of observed to expected age-standardised DALY rates in 2016, were Nicaragua, Costa Rica, the Maldives, Peru, and Israel. The leading three causes of DALYs globally were ischaemic heart disease, cerebrovascular disease, and lower respiratory infections, comprising 16·1% of all DALYs. Total DALYs and age-standardised DALY rates due to most CMNN causes decreased from 1990 to 2016. Conversely, the total DALY burden rose for most NCDs; however, age-standardised DALY rates due to NCDs declined globally.
INTERPRETATION: At a global level, DALYs and HALE continue to show improvements. At the same time, we observe that many populations are facing growing functional health loss. Rising SDI was associated with increases in cumulative years of life lived with disability and decreases in CMNN DALYs offset by increased NCD DALYs. Relative compression of morbidity highlights the importance of continued health interventions, which has changed in most locations in pace with the gross domestic product per person, education, and family planning. The analysis of DALYs and HALE and their relationship to SDI represents a robust framework with which to benchmark location-specific health performance. Country-specific drivers of disease burden, particularly for causes with higher-than-expected DALYs, should inform health policies, health system improvement initiatives, targeted prevention efforts, and development assistance for health, including financial and research investments for all countries, regardless of their level of sociodemographic development. The presence of countries that substantially outperform others suggests the need for increased scrutiny for proven examples of best practices, which can help to extend gains, whereas the presence of underperforming countries suggests the need for devotion of extra attention to health systems that need more robust support.
FUNDING: Bill & Melinda Gates Foundation
COVID-19 symptoms at hospital admission vary with age and sex: results from the ISARIC prospective multinational observational study
Background:
The ISARIC prospective multinational observational study is the largest cohort of hospitalized patients with COVID-19. We present relationships of age, sex, and nationality to presenting symptoms.
Methods:
International, prospective observational study of 60â109 hospitalized symptomatic patients with laboratory-confirmed COVID-19 recruited from 43 countries between 30 January and 3 August 2020. Logistic regression was performed to evaluate relationships of age and sex to published COVID-19 case definitions and the most commonly reported symptoms.
Results:
âTypicalâ symptoms of fever (69%), cough (68%) and shortness of breath (66%) were the most commonly reported. 92% of patients experienced at least one of these. Prevalence of typical symptoms was greatest in 30- to 60-year-olds (respectively 80, 79, 69%; at least one 95%). They were reported less frequently in children (â€â18 years: 69, 48, 23; 85%), older adults (â„â70 years: 61, 62, 65; 90%), and women (66, 66, 64; 90%; vs. men 71, 70, 67; 93%, each Pâ<â0.001). The most common atypical presentations under 60 years of age were nausea and vomiting and abdominal pain, and over 60 years was confusion. Regression models showed significant differences in symptoms with sex, age and country.
Interpretation:
This international collaboration has allowed us to report reliable symptom data from the largest cohort of patients admitted to hospital with COVID-19. Adults over 60 and children admitted to hospital with COVID-19 are less likely to present with typical symptoms. Nausea and vomiting are common atypical presentations under 30 years. Confusion is a frequent atypical presentation of COVID-19 in adults over 60 years. Women are less likely to experience typical symptoms than men
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 nonâcritically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (nâ=â257), ARB (nâ=â248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; nâ=â10), or no RAS inhibitor (control; nâ=â264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ supportâfree days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ supportâfree days among critically ill patients was 10 (â1 to 16) in the ACE inhibitor group (nâ=â231), 8 (â1 to 17) in the ARB group (nâ=â217), and 12 (0 to 17) in the control group (nâ=â231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ supportâfree days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
Ătude d'associations gĂ©nĂ©tiques entre FLG, les gĂšnes de sa voie biologique ainsi que FLG2 et les maladies atopiques
Le gĂšne filaggrine (FLG) a beaucoup Ă©tĂ© Ă©tudiĂ© pour son implication au niveau de la dermatite atopique (DA) et de lâasthme. Le but de lâĂ©tude est dâeffectuer une Ă©tude dâassociation entre FLG ainsi que le membre 2 de la famille filaggrine (FLG2) avec lâasthme, lâatopie et lâasthme allergique avec ou sans prĂ©sence de DA dans quatre Ă©tudes dâasthme indĂ©pendantes. LâĂ©tude dâassociation a aussi Ă©tĂ© exĂ©cutĂ©e avec des gĂšnes de la voie biologique de FLG ayant une fonction documentĂ©e au niveau de sa transcription. Une analyse combinĂ©e de quatre Ă©tudes dâasthme indĂ©pendantes a Ă©galement Ă©tĂ© rĂ©alisĂ©e. Finalement, une Ă©tude dâinteraction a Ă©tĂ© exĂ©cutĂ©e entre les polymorphismes des gĂšnes de cette voie biologique. Les rĂ©sultats montrent des associations significatives pour le gĂšne POU classe 2 homeobox 3 (POU2F3) avec les diffĂ©rents phĂ©notypes atopiques. Ces rĂ©sultats suggĂšrent lâimportance de considĂ©rer la voie biologique des gĂšnes dâintĂ©rĂȘt dans les Ă©tudes dâassociation en suite logique Ă lâapproche par gĂšne candidat. Cette approche peut conduire Ă la dĂ©couverte de nouveaux gĂšnes associĂ©s aux maladies atopiques ce qui aiderait Ă mieux dĂ©finir la biologie molĂ©culaire de ce trait
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