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排序方式: 共有160条查询结果,搜索用时 140 毫秒
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Delphine Bouis Peggy Kirstetter Florent Arbogast Delphine Lamon Virginia Delgado Sophie Jung Claudine Ebel Hugues Jacobs Anne-Marie Knapp Nadia Jeremiah Alexandre Belot Thierry Martin Yanick J. Crow Isabelle André-Schmutz Anne-Sophie Korganow Frédéric Rieux-Laucat Pauline Soulas-Sprauel 《The Journal of allergy and clinical immunology》2019,143(2):712-725.e5
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Anne G Crocker Tonia L Nicholls Michael C Seto Gilles C?té Yanick Charette Malijai Caulet 《Revue canadienne de psychiatrie》2015,60(3):98-105
The National Trajectory Project examined longitudinal data from a large sample of people found not criminally responsible on account of mental disorder (NCRMD) to assess the presence of provincial differences in the application of the law, to examine the characteristics of people with serious mental illness who come into conflict with the law and receive this verdict, and to investigate the trajectories of NCRMD–accused people as they traverse the mental health and criminal justice systems. Our paper describes the rationale for the National Trajectory Project and the methods used to collect data in Quebec, Ontario, and British Columbia, the 3 most populous provinces in Canada and the 3 provinces with the most people found NCRMD. 相似文献
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Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification 下载免费PDF全文
Roberta R. Lemos Eliana M. Ramos Andrea Legati Gaël Nicolas Emma M. Jenkinson John H. Livingston Yanick J. Crow Dominique Campion Giovanni Coppola João R. M. Oliveira 《Human mutation》2015,36(5):489-495
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder, with affected individuals presenting a wide variety of motor and cognitive impairments, such as migraine, parkinsonism, psychosis, dementia, and mood swings. Calcifications are usually symmetrical, bilateral, and found predominantly in the basal ganglia, thalamus, and cerebellum. So far, variants in three genes have been linked to PFBC: SLC20A2, PDGFRB, and PDGFB. Variants in SLC20A2 are responsible for most cases identified so far and, therefore, the present review is a comprehensive worldwide summary of all reported variants to date. SLC20A2 encodes an inorganic phosphate transporter, PiT‐2, widely expressed in various tissues, including brain, and is part of a major family of solute carrier membrane transporters. Fifty variants reported in 55 unrelated patients so far have been identified in families of diverse ethnicities and only few are recurrent. Various types of variants were detected (missense, nonsense, frameshift) including full or partial SLC20A2 deletions. The recently reported SLC20A2 knockout mouse will enhance our understanding of disease mechanism and allow for screening of therapeutic compounds. In the present review, we also discuss the implications of these recent exciting findings and consider the possibility of treatments based on manipulation of inorganic phosphate homeostasis. 相似文献
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François Moreau-Bussière MD Jonathan Gaulin MD Véronique Gagnon RRT Yanick Sansoucy MD Étienne de Médicis MD 《Journal canadien d'anesthésie》2013,60(4):364-369
Background
In many studies, gabapentinoids, such as pregabalin, have been shown to reduce preoperative anxiety. This anxiolysis is often accompanied by sedation, one of the most frequent side effects of pregabalin. We hypothesized that pregabalin taken preoperatively could reduce propofol requirements for induction of general anesthesia.Methods
A randomized double-blind placebo-controlled trial was conducted after approval by the local ethics committee. Fifty women aged 18-40 yr, American Anesthesiologists Society physical status I and II, and scheduled to undergo elective laparoscopic gynecologic procedures were enrolled after written consent. Treatment group patients were given pregabalin 150 mg po one hour before surgery while patients in the control group received a placebo. The primary outcome was the propofol dose required to achieve a targeted anesthetic depth in 50% of the population, i.e., effective dose (ED)50. The ED50 was estimated using Dixon’s up-and-down methodology. The targeted anesthetic depth was defined based on predetermined entropy monitoring values (State Entropy [SE] < 50 and Response Entropy [RE]-SE < 10). As a secondary outcome, we tested if pregabalin reduced pre-induction anxiety levels which were measured on a 0-100 scale.Results
The propofol ED50 was not statistically different between the pregabalin group (mean 1.33 mg·kg?1; 95% confidence interval [CI] 1.23 to 1.43) vs the placebo group (mean 1.37 mg·kg?1; 95% CI 1.28 to 1.46); P = 0.19. Also, pre-induction anxiety level was not different between groups (median 31; interquartile range [IQR] [10-52] vs median 42; IQR [4-71], respectively; P = 0.41).Conclusions
Preoperative pregabalin does not reduce propofol requirements in a population of healthy young women undergoing laparoscopic gynecologic procedures. This study failed to show a pre-induction anxiolytic effect of pregabalin in such a population. This trial was registered at www.clinicaltrials.gov (NCT01158859). 相似文献8.
L. Spinelli M. Botwicz N. Zolek M. Kacprzak D. Milej P. Sawosz A. Liebert U. Weigel T. Durduran F. Foschum A. Kienle F. Baribeau S. Leclair J.-P. Bouchard I. Noiseux P. Gallant O. Mermut A. Farina A. Pifferi A. Torricelli R. Cubeddu H.-C. Ho M. Mazurenka H. Wabnitz K. Klauenberg O. Bodnar C. Elster M. Bénazech-Lavoué Y. Bérubé-Lauzière F. Lesage D. Khoptyar A. A. Subash S. Andersson-Engels P. Di Ninni F. Martelli G. Zaccanti 《Biomedical optics express》2014,5(7):2037-2053
A multi-center study has been set up to accurately characterize the optical properties of diffusive liquid phantoms based on Intralipid and India ink at near-infrared (NIR) wavelengths. Nine research laboratories from six countries adopting different measurement techniques, instrumental set-ups, and data analysis methods determined at their best the optical properties and relative uncertainties of diffusive dilutions prepared with common samples of the two compounds. By exploiting a suitable statistical model, comprehensive reference values at three NIR wavelengths for the intrinsic absorption coefficient of India ink and the intrinsic reduced scattering coefficient of Intralipid-20% were determined with an uncertainty of about 2% or better, depending on the wavelength considered, and 1%, respectively. Even if in this study we focused on particular batches of India ink and Intralipid, the reference values determined here represent a solid and useful starting point for preparing diffusive liquid phantoms with accurately defined optical properties. Furthermore, due to the ready availability, low cost, long-term stability and batch-to-batch reproducibility of these compounds, they provide a unique fundamental tool for the calibration and performance assessment of diffuse optical spectroscopy instrumentation intended to be used in laboratory or clinical environment. Finally, the collaborative work presented here demonstrates that the accuracy level attained in this work for optical properties of diffusive phantoms is reliable.OCIS codes: (170.5280) Photon migration, (170.7050) Turbid media, (170.3890) Medical optics instrumentation 相似文献
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Adam Hofmann Yanick Beaulieu Francis Bernard Philippe Rico 《Journal canadien de gastroenterologie》2009,23(12):829-833
Two cases of fulminant pulmonary legionellosis, complicated by prolonged intensive care unit stays and acute respiratory distress syndrome, and who were recently treated with infliximab for Crohn’s disease, are described. A review of the literature revealed three additional cases in patients with inflammatory bowel disease, and a total of 22 cases of Legionella pneumophila pneumonia in the context of treatment with antitumour necrosis (TNF)-alpha medications. The median age of the patients was 49 years, and men and women were affected equally. The case fatality rate was 14% (three of 22). Early recognition and treatment of this anti-TNF-alpha-related complication would likely result in reduced mortality and morbidity. Physicians prescribing anti-TNF-alpha drugs should be aware of this association. 相似文献
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Alice Lepelley Erika Della Mina Erika Van Nieuwenhove Lise Waumans Sylvie Fraitag Gillian I. Rice Ashish Dhir Marie-Louise Frmond Mathieu P. Rodero Luis Seabra Edwin Carter Christine Bodemer Daniela Buhas Bert Callewaert Pascale de Lonlay Lien De Somer David A. Dyment Fran Faes Lucy Grove Simon Holden Marie Hully Manju A. Kurian Hugh J. McMillan Kristin Suetens Henna Tyynismaa Stphanie Chhun Timothy Wai Carine Wouters Brigitte Bader-Meunier Yanick J. Crow 《The Journal of experimental medicine》2021,218(10)
Mitochondrial DNA (mtDNA) has been suggested to drive immune system activation, but the induction of interferon signaling by mtDNA has not been demonstrated in a Mendelian mitochondrial disease. We initially ascertained two patients, one with a purely neurological phenotype and one with features suggestive of systemic sclerosis in a syndromic context, and found them both to demonstrate enhanced interferon-stimulated gene (ISG) expression in blood. We determined each to harbor a previously described de novo dominant-negative heterozygous mutation in ATAD3A, encoding ATPase family AAA domain–containing protein 3A (ATAD3A). We identified five further patients with mutations in ATAD3A and recorded up-regulated ISG expression and interferon α protein in four of them. Knockdown of ATAD3A in THP-1 cells resulted in increased interferon signaling, mediated by cyclic GMP-AMP synthase (cGAS) and stimulator of interferon genes (STING). Enhanced interferon signaling was abrogated in THP-1 cells and patient fibroblasts depleted of mtDNA. Thus, mutations in the mitochondrial membrane protein ATAD3A define a novel type I interferonopathy. 相似文献