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https://www.readbyqxmd.com/read/28434495/dysfunction-of-the-cerebral-glucose-transporter-slc45a1-in-individuals-with-intellectual-disability-and-epilepsy
#1
Myriam Srour, Noriaki Shimokawa, Fadi F Hamdan, Christina Nassif, Chantal Poulin, Lihadh Al Gazali, Jill A Rosenfeld, Noriyuki Koibuchi, Guy A Rouleau, Aisha Al Shamsi, Jacques L Michaud
Glucose transport across the blood brain barrier and into neural cells is critical for normal cerebral physiologic function. Dysfunction of the cerebral glucose transporter GLUT1 (encoded by SLC2A1) is known to result in epilepsy, intellectual disability (ID), and movement disorder. Using whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and c.629C>T [p.Ala210Val]) in SLC45A1, encoding another cerebral glucose transporter, in two consanguineous multiplex families with moderate to severe ID, epilepsy, and variable neuropsychiatric features...
April 18, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28432728/expansion-of-the-clinical-phenotype-of-the-distal-10q26-3-deletion-syndrome-to-include-ataxia-and-hyperemia-of-the-hands-and-feet
#2
Melanie Lacaria, Myriam Srour, Jacques L Michaud, Asif Doja, Elka Miller, Jeremy Schwartzentruber, Claire Goldsmith, Jacek Majewski, Kym M Boycott
Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28426913/body-mass-index-weight-loss-and-cause-specific-mortality-in-rheumatoid-arthritis
#3
Bryant R England, Joshua F Baker, Harlan Sayles, Kaleb Michaud, Liron Caplan, Lisa A Davis, Grant W Cannon, Brian C Sauer, E Blair Solow, Andreas M Reimold, Gail S Kerr, Ted R Mikuls
OBJECTIVES: To examine associations of body mass index (BMI) and weight loss with cause-specific mortality in rheumatoid arthritis (RA). METHODS: A cohort of U.S. Veterans with RA were followed until death or through 2013. BMI was categorized as underweight, normal, overweight, and obese. Weight loss was calculated as the: 1) annualized rate of change over the preceding 13 months and 2) cumulative percent. Vital status and cause of death were obtained from the National Death Index...
April 20, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28413413/the-risk-of-incident-mild-cognitive-impairment-and-progression-to-dementia-considering-mild-cognitive-impairment-subtypes
#4
Tzeyu L Michaud, Dejun Su, Mohammad Siahpush, Daniel L Murman
BACKGROUND: It remains unclear how demographic and clinical characteristics are related to the risk of incident mild cognitive impairment (MCI) by its subtypes. Moreover, the contribution of the subtypes of incident MCI to the progression to dementia remains puzzling. METHODS: We used data collected by the National Alzheimer Coordinating Center. Our analysis sample included cognitively normal subjects at baseline. The associations were examined using competing-risks survival regression models and Cox proportional hazards models...
January 2017: Dementia and Geriatric Cognitive Disorders Extra
https://www.readbyqxmd.com/read/28393498/the-impact-of-obesity-and-adiposity-on-inflammatory-markers-in-patients-with-rheumatoid-arthritis
#5
Michael D George, Jon T Giles, Patricia P Katz, Bryant R England, Ted R Mikuls, Kaleb Michaud, Alexis R Ogdie-Beatty, Said Ibrahim, Grant W Cannon, Liron Caplan, Brian C Sauer, Joshua F Baker
BACKGROUND: C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) are important disease activity biomarkers in rheumatoid arthritis (RA). This study aimed to determine to what extent obesity biases these biomarkers. METHODS: Body mass index (BMI) associations with CRP and ESR were assessed in two RA cohorts - 1) the cross-sectional Body Composition (BC) cohort (N = 451) including whole-body DXA measures of fat mass index, and 2) the longitudinal Veterans Affairs Rheumatoid Arthritis (VARA) registry (N = 1652), using multivariable models stratified by sex...
April 10, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28393272/heterozygous-hnrnpu-variants-cause-early-onset-epilepsy-and-severe-intellectual-disability
#6
Nuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, Janine Altmüller, Filippo Beleggia, Nursel H Elcioglu, Catharine Freyer, Erica H Gerkes, Yasemin Kendir Demirkol, Kelly G Knupp, Alma Kuechler, Yun Li, Daniel H Lowenstein, Jacques L Michaud, Kristen Park, Alexander P A Stegmann, Hermine E Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut Engels, Tim M Strom, Tjitske Kleefstra, Dagmar Wieczorek
Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum...
April 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28379056/a-randomized-trial-to-determine-the-duration-of-analgesia-following-a-15-and-a-30-minute-application-of-acupuncture-like-tens-on-patients-with-chronic-low-back-pain
#7
Yannick Tousignant-Laflamme, Claudia Laroche, Christine Beaulieu, Ann-Julie Bouchard, Sabrina Boucher, Mélanie Michaud-Létourneau
BACKGROUND: Acupuncture-like TENS (AL-TENS) has been shown to produce prolonged pain relief, but no study has yet investigated its duration on a population suffering from chronic low back pain (CLPB). OBJECTIVE: Our objective was to quantify the duration and magnitude of analgesia induced by a 15- or 30-minute application of AL-TENS. METHODOLOGY: We recruited a sample of 11 participants presenting with CLBP and conducted a randomized, crossover study, where participants were given AL-TENS for 15 and 30 minutes on two separate occasions...
April 5, 2017: Physiotherapy Theory and Practice
https://www.readbyqxmd.com/read/28365202/impact-of-bariatric-surgery-on-white-adipose-tissue-inflammation
#8
REVIEW
Jennifer Labrecque, Sofia Laforest, Andréanne Michaud, Laurent Biertho, André Tchernof
Excess fat mass accumulation can lead to a wide range of metabolic and cardiovascular complications resulting from dysfunctional adipose tissue (AT). The latter includes immune cell infiltration and altered secretion of anti- and proinflammatory mediators, which contribute to systemic, low-grade inflammation. In this article, we review available literature documenting the impact of surgery-induced weight loss on macrophage infiltration and tissue expression or circulating levels of a broad spectrum of inflammatory mediators...
March 29, 2017: Canadian Journal of Diabetes
https://www.readbyqxmd.com/read/28363578/tempo-mediated-oxidation-of-polysaccharides-an-ongoing-story
#9
REVIEW
Guillaume Pierre, Carlo Punta, Cédric Delattre, Lucio Melone, Pascal Dubessay, Andrea Fiorati, Nadia Pastori, Yves M Galante, Philippe Michaud
The oxidation of natural polysaccharides by TEMPO has become by now an "old chemical reaction" which led to numerous studies mainly conducted on cellulose. This regioselective oxidation of primary alcohol groups of neutral polysaccharides has generated a new class of polyuronides not identified before in nature, even if the discovery of enzymes promoting an analogous oxidation has been more recently reported. Around the same time, the scientific community discovered the surprising biological and techno-functional properties of these anionic macromolecules with a high potential of application in numerous industrial fields...
June 1, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28358547/schedule-of-human-controlled-periods-structures-bottlenose-dolphin-tursiops-truncatus-behavior-in-their-free-time
#10
Isabella L K Clegg, Heiko G Rödel, Marjorie Cellier, Dennis Vink, Isaure Michaud, Birgitta Mercera, Martin Böye, Martine Hausberger, Alban Lemasson, Fabienne Delfour
Behavioral patterns are established in response to predictable environmental cues. Animals under human care frequently experience predictable, human-controlled events each day, but very few studies have questioned exactly how behavioral patterns are affected by such activities. Bottlenose dolphins (Tursiops truncatus) maintained for public display are good models to study such patterns since they experience multiple daily human-controlled periods (e.g., shows, training for shows, medical training). Thus, we investigated the effect of training session schedule on their "free-time" behavior, studying 29 individuals within 4 groups from 3 European facilities...
March 30, 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28357620/toxicity-of-three-aphicides-to-the-generalist-predators-chrysoperla-carnea-neuroptera-chrysopidae-and-orius-insidiosus-hemiptera-anthocoridae
#11
Paulo R R Barbosa, J P Michaud, Clint L Bain, Jorge B Torres
Recent widespread infestations of the invasive sugarcane aphid, Melanaphis sacchari (Zehntner) (Hemiptera: Aphididae), in sorghum fields in the southern USA have created demand for insecticides that will provide effective control of sugarcane aphid, while conserving those beneficial species that contribute to biological control of the pest. We tested the susceptibility of both adult and immature stages of two aphid predators, the green lacewing, Chrysoperla carnea (Stephens) (Neuroptera: Chrysopidae), and the insidious flower bug, Orius insidiosus (Say) (Hemiptera: Anthocoridae), to three aphicides, flonicamid, sulfoxaflor and flupyradifurone...
March 29, 2017: Ecotoxicology
https://www.readbyqxmd.com/read/28356279/history-of-periodontitis-diagnosis-and-edentulism-as-predictors-of-cardiovascular-disease-stroke-and-mortality-in-postmenopausal-women
#12
Michael J LaMonte, Robert J Genco, Kathleen M Hovey, Robert B Wallace, Jo L Freudenheim, Dominique S Michaud, Xiaodan Mai, Lesley F Tinker, Christian R Salazar, Christopher A Andrews, Wenjun Li, Charles B Eaton, Lisa W Martin, Jean Wactawski-Wende
BACKGROUND: Few studies have reported associations between periodontitis and cardiovascular disease (CVD) risk in older women, which is the objective of the present investigation. METHODS AND RESULTS: Participants were 57 001 postmenopausal women ages 55 to 89 years (mean 68 years; >85% 60 and older) who were enrolled (1993-1998) in the Women's Health Initiative Observational Study, and were without known CVD when history of periodontitis and edentulism was assessed by questionnaire at study Year-5 (1998-2003)...
March 29, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28350812/sports-related-sudden-cardiac-deaths-in-the-young-population-of-switzerland
#13
Babken Asatryan, Cristina Vital, Christoph Kellerhals, Argelia Medeiros-Domingo, Christoph Gräni, Lukas D Trachsel, Christian M Schmied, Ardan M Saguner, Prisca Eser, David Herzig, Stephan Bolliger, Katarzyna Michaud, Matthias Wilhelm
BACKGROUND: In Switzerland, ECG screening was first recommended for national squad athletes in 1998. Since 2001 it has become mandatory in selected high-risk professional sports. Its impact on the rates of sports-related sudden cardiac death (SCD) is unknown. OBJECTIVE: We aimed to study the incidence, causes and time trends of sports-related SCD in comparison to SCD unrelated to exercise in Switzerland. METHODS: We reviewed all forensic reports of SCDs of the German-speaking region of Switzerland in the age group of 10 to 39 years, occurring between 1999 and 2010...
2017: PloS One
https://www.readbyqxmd.com/read/28348764/first-reported-case-of-campylobacter-lanienae-enteritis-in-a-human
#14
Simon Lévesque, Frédéric Lemay, Sadjia Bekal, Eric H Frost, Sophie Michaud
INTRODUCTION: Campylobacters are the most frequently identified bacteria causing diarrhoea in humans worldwide. Campylobacter lanienae was isolated for the first time in 2000 from faecal samples of two asymptomatic abattoir workers in Switzerland during a routine hygiene screen, but has never been associated with human disease. CASE PRESENTATION: At hospital admission, the patient reported diarrhoea, lower abdominal cramps, nausea, one episode of bilious vomiting and low-grade fever of 38 °C...
June 2016: JMM Case Reports
https://www.readbyqxmd.com/read/28341243/variation-of-clearance-considering-viscosity-of-the-solution-used-in-the-reservoir-and-following-scleral-lens-wear-over-time
#15
Claudine Courey, Langis Michaud
PURPOSE: This study aims to evaluate the settling of a scleral lens and if this process is influenced by the nature of the fluid layer. METHODS: A prospective, non-randomized control study was performed using an 18mm scleral lens. They were fitted with a central clearance of 400 um at insertion. One eye was randomly assigned to be fitted with a non-preserved gel solution of carboxymethylcellulose, while the other was inserted with non-preserved saline. Measurements of clearance in 3 locations were taken (OCT) at baseline, every 30min up to 1h30 post insertion and every 2h thereafter up to 6h00 of wear...
March 21, 2017: Contact Lens & Anterior Eye: the Journal of the British Contact Lens Association
https://www.readbyqxmd.com/read/28339750/downstream-overdrive-pacing-and-intracardiac-concealed-fusion-to-guide-rapid-identification-of-atrial-tachycardia-after-atrial-fibrillation-ablation
#16
Chirag R Barbhaiya, Samuel H Baldinger, Saurabh Kumar, Jason S Chinitz, Alan D Enriquez, Roy John, William G Stevenson, Gregory F Michaud
Aims: Atrial tachycardia (AT) related to atrial fibrillation (AF) ablation frequently poses a diagnostic challenge. Downstream overdrive pacing (DOP) can be used to rapidly detect reentry and assess proximity of a pacing site to an AT circuit or focus. We hypothesized that systematic DOP using multielectrode catheters would facilitate AT mapping. Methods and results: DOP identified constant fusion when the post-pacing interval (PPI)-tachycardia cycle length (TCL) <40 ms and stimulus to adjacent upstream atrial electrogram interval >75% of TCL...
February 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28339748/genotype-based-gene-signature-of-glioma-risk
#17
Yen-Tsung Huang, Yi Zhang, Zhijin Wu, Dominique S Michaud
Background.: Glioma accounts for 80% of malignant brain tumors, but its etiologic determinants remain elusive. Despite genetic susceptibility loci identified by genome-wide association study (GWAS), the agnostic approach leaves open the possibility that other susceptibility genes remain to be discovered. Here we conduct a gene-centric integrative GWAS (iGWAS) of glioma risk that combines transcriptomics and genetics. Methods.: We synthesized a brain transcriptomics dataset (n = 354), a GWAS dataset (n = 4203), and an advanced glioma tumor transcriptomic dataset (n = 483) to conduct an iGWAS...
February 22, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28330777/altered-visual-repetition-suppression-in-fragile-x-syndrome-new-evidence-from-erps-and-oscillatory-activity
#18
Simon Rigoulot, Inga S Knoth, Marc-Philippe Lafontaine, Phetsamone Vannasing, Philippe Major, Sébastien Jacquemont, Jacques L Michaud, Karim Jerbi, Sarah Lippé
Fragile X Syndrome (FXS) is a neurodevelopmental genetic disorder associated with cognitive and behavioural deficits. In particular, neuronal habituation processes have been shown to be altered in FXS patients. Yet, while such deficits have been primarily explored using auditory stimuli, less is known in the visual modality. Here, we investigated the putative alteration of repetition suppression using faces in FXS patients compared to controls that had the same age distribution. Electroencephalographic (EEG) signals were acquired while participants were presented with 18 different faces, each repeated ten times successively...
March 19, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28317910/enterohemorrhagic-escherichia-coli-pathogenesis-role-of-long-polar-fimbriae-in-peyer-s-patches-interactions
#19
Charlotte Cordonnier, Lucie Etienne-Mesmin, Jonathan Thévenot, Amandine Rougeron, Sandra Rénier, Benoit Chassaing, Arlette Darfeuille-Michaud, Nicolas Barnich, Stéphanie Blanquet-Diot, Valérie Livrelli
Enterohemorrhagic Escherichia coli (EHEC) are major food-borne pathogens whose survival and virulence in the human digestive tract remain unclear owing to paucity of relevant models. EHEC interact with the follicle-associated epithelium of Peyer's patches of the distal ileum and translocate across the intestinal epithelium via M-cells, but the underlying molecular mechanisms are still unknown. Here, we investigated the involvement of Long polar fimbriae (Lpf) in EHEC pathogenesis. Of the 236 strains tested, a significant association was observed between the presence of lpf operons and pathogenicity...
March 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28301896/overstressed-response-to-eif2s3-variants-in-mehmo-syndrome
#20
EDITORIAL
Jacques L Michaud
No abstract text is available yet for this article.
April 2017: Human Mutation
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