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richard young

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https://www.readbyqxmd.com/read/28647130/fever-induced-paroxysmal-weakness-and-encephalopathy-a-new-phenotype-of-atp1a3-mutation
#1
Sho T Yano, Kenneth Silver, Richard Young, Suzanne D DeBrosse, Roseànne S Ebel, Kathryn J Swoboda, Gyula Acsadi
BACKGROUND: We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndromes. METHODS: Four patients with c.2267G>A (R756H) mutations from two families and two patients with c.2267G>T (R756L) mutations from one family are described and compared with the previously reported patients with mutations resulting in R756H and R756C protein variants...
April 29, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28646702/alcohol-and-recreational-drug-use-in-young-adults-with-type-1-diabetes
#2
REVIEW
Adam Pastor, Jennifer Conn, Jessie Teng, Casey L O'Brien, Margaret Loh, Lisa Collins, Richard MacIsaac, Yvonne Bonomo
Alcohol and other recreational drug use reaches peak prevalence in young adulthood, including for those with chronic medical conditions such as type 1 diabetes. This review summarises the current literature on the patterns of substance use amongst young adults with type 1 diabetes and the mechanisms through which alcohol and recreational drugs may affect diabetes related health outcomes. These include the direct physical effect of intoxication, as well as the effects of alcohol and drugs on mental health and glucose metabolism...
June 11, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28645697/clinical-high-resolution-mapping-of-the-proteoglycan-bound-water-fraction-in-articular-cartilage-of-the-human-knee-joint
#3
Mustapha Bouhrara, David A Reiter, Kyle W Sexton, Christopher M Bergeron, Linda M Zukley, Richard G Spencer
PURPOSE: We applied a recently introduced method to achieve clinically-feasible in-vivo mapping of the proteoglycan water fraction (PgWF) of human knee cartilage with improved spatial resolution and stability as compared to existing methods. MATERIAL AND METHODS: Multicomponent driven equilibrium single-pulse observation of T1 and T2 (mcDESPOT) datasets were acquired from the knees of two healthy young subjects and one older subject with previous knee injury. Each dataset was processed using Bayesian Monte Carlo (BMC) analysis incorporating a two-component tissue model...
June 20, 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28645463/etiologies-of-chronic-cough-in-pediatric-cohorts-chest-guideline-and-expert-panel-report
#4
Anne B Chang, John J Oppenheimer, Miles Weinberger, Cameron C Grant, Bruce K Rubin, Richard S Irwin
BACKGROUND: In children (aged ≤14-years) there is no published systematic review on the etiologies of chronic cough or, the relationship between obstructive sleep apnea (OSA) and chronic cough. We thus undertook systematic reviews based on key questions (KQs) using the PICO format. The KQs were: Among children with chronic (>4 weeks) cough: (1) are the common etiologies different from adults? (2) are the common etiologies age and/or setting dependent? and; (3) is obstructive sleep apnea (OSA) an etiology of chronic cough in children? METHODS: We used the CHEST expert cough panel's protocol and the American College of Chest Physicians (CHEST) methodological guidelines and GRADE framework...
June 20, 2017: Chest
https://www.readbyqxmd.com/read/28642624/whole-exome-sequencing-to-identify-genetic-variants-associated-with-raised-atherosclerotic-lesions-in-young-persons
#5
James E Hixson, Goo Jun, Lawrence C Shimmin, Yizhi Wang, Guoqiang Yu, Chunhong Mao, Andrew S Warren, Timothy D Howard, Richard S Vander Heide, Jennifer Van Eyk, Yue Wang, David M Herrington
We investigated the influence of genetic variants on atherosclerosis using whole exome sequencing in cases and controls from the autopsy study "Pathobiological Determinants of Atherosclerosis in Youth (PDAY)". We identified a PDAY case group with the highest total amounts of raised lesions (n = 359) for comparisons with a control group with no detectable raised lesions (n = 626). In addition to the standard exome capture, we included genome-wide proximal promoter regions that contain sequences that regulate gene expression...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28641385/development-of-an-electronic-medical-record-based-child-physical-abuse-alert-system
#6
Rachel P Berger, Richard A Saladino, Janet Fromkin, Emily Heineman, Srinivasan Suresh, Tom McGinn
Objective: Physical abuse is a leading cause of pediatric morbidity and mortality. Physicians do not consistently screen for abuse, even in high-risk situations. Alerts in the electronic medical record may help improve screening rates, resulting in early identification and improved outcomes. Methods: Triggers to identify children < 2 years old at risk for physical abuse were coded into the electronic medical record at a freestanding pediatric hospital with a level 1 trauma center...
June 21, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/28640904/correlation-of-disease-severity-with-body-weight-and-high-fat-diet-in-the-fatzo-pco-mouse
#7
Brian A Droz, Bria L Sneed, Charles V Jackson, Karen M Zimmerman, M Dodson Michael, Paul J Emmerson, Tamer Coskun, Richard G Peterson
Obesity in many current pre-clinical animal models of obesity and diabetes is mediated by monogenic mutations; these are rarely associated with the development of human obesity. A new mouse model, the FATZO mouse, has been developed to provide polygenic obesity and a metabolic pattern of hyperglycemia and hyperinsulinemia, that support the presence of insulin resistance similar to metabolic disease in patients with insulin resistance/type 2 diabetes. The FATZO mouse resulted from a cross of C57BL/6J and AKR/J mice followed by selective inbreeding for obesity, increased insulin and hyperglycemia...
2017: PloS One
https://www.readbyqxmd.com/read/28640857/glucose-dysregulation-and-response-to-common-anti-diabetic-agents-in-the-fatzo-pco-mouse
#8
Richard G Peterson, Charles Van Jackson, Karen M Zimmerman, Jorge Alsina-Fernandez, M Dodson Michael, Paul J Emmerson, Tamer Coskun
The FATZO/Pco mouse is the result of a cross of the C57BL/6J and AKR/J strains. The crossing of these two strains and the selective inbreeding for obesity, insulin resistance and hyperglycemia has resulted in an inbred strain exhibiting obesity in the presumed presence of an intact leptin pathway. Routinely used rodent models for obesity and diabetes research have a monogenic defect in leptin signaling that initiates obesity. Given that obesity and its sequelae in humans are polygenic in nature and not associated with leptin signaling defects, the FATZO mouse may represent a more translatable rodent model for study of obesity and its associated metabolic disturbances...
2017: PloS One
https://www.readbyqxmd.com/read/28639301/improving-the-detection-sensitivity-of-ph-weighted-amide-proton-transfer-mri-in-acute-stroke-patients-using-extrapolated-semisolid-magnetization-transfer-reference-signals
#9
Hye-Young Heo, Yi Zhang, Tina M Burton, Shanshan Jiang, Yansong Zhao, Peter C M van Zijl, Richard Leigh, Jinyuan Zhou
PURPOSE: To quantify amide protein transfer (APT) effects in acidic ischemic lesions and assess the spatial-temporal relationship among diffusion, perfusion, and pH deficits in acute stroke patients. METHODS: Thirty acute stroke patients were scanned at 3 T. Quantitative APT (APT(#) ) effects in acidic ischemic lesions were measured using an extrapolated semisolid magnetization transfer reference signal technique and compared with commonly used MTRasym (3.5ppm) or APT-weighted parameters...
June 21, 2017: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
https://www.readbyqxmd.com/read/28637928/the-long-noncoding-rna-wisper-controls-cardiac-fibrosis-and-remodeling
#10
Rudi Micheletti, Isabelle Plaisance, Brian J Abraham, Alexandre Sarre, Ching-Chia Ting, Michael Alexanian, Daniel Maric, Damien Maison, Mohamed Nemir, Richard A Young, Blanche Schroen, Arantxa González, Samir Ounzain, Thierry Pedrazzini
Long noncoding RNAs (lncRNAs) are emerging as powerful regulators of cardiac development and disease. However, our understanding of the importance of these molecules in cardiac fibrosis is limited. Using an integrated genomic screen, we identified Wisper (Wisp2 super-enhancer-associated RNA) as a cardiac fibroblast-enriched lncRNA that regulates cardiac fibrosis after injury. Wisper expression was correlated with cardiac fibrosis both in a murine model of myocardial infarction (MI) and in heart tissue from human patients suffering from aortic stenosis...
June 21, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28637744/group-clinics-for-young-adults-with-diabetes-in-an-ethnically-diverse-socioeconomically-deprived-setting-together-study-protocol-for-a-realist-review-co-design-and-mixed-methods-participatory-evaluation-of-a-new-care-model
#11
Chrysanthi Papoutsi, Dougal Hargreaves, Grainne Colligan, Ann Hagell, Anita Patel, Desirée Campbell-Richards, Russell M Viner, Shanti Vijayaraghavan, Martin Marshall, Trisha Greenhalgh, Sarah Finer
INTRODUCTION: Young adults with diabetes often report dissatisfaction with care and have poor diabetes-related health outcomes. As diabetes prevalence continues to rise, group-based care could provide a sustainable alternative to traditional one-to-one consultations, by engaging young people through life stage-, context- and culturally-sensitive approaches. In this study, we will co-design and evaluate a group-based care model for young adults with diabetes and complex health and social needs in socioeconomically deprived areas...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28636595/nlrp9b-inflammasome-restricts-rotavirus-infection-in-intestinal-epithelial-cells
#12
Shu Zhu, Siyuan Ding, Penghua Wang, Zheng Wei, Wen Pan, Noah W Palm, Yi Yang, Hua Yu, Hua-Bing Li, Geng Wang, Xuqiu Lei, Marcel R de Zoete, Jun Zhao, Yunjiang Zheng, Haiwei Chen, Yujiao Zhao, Kellie A Jurado, Ningguo Feng, Liang Shan, Yuval Kluger, Jun Lu, Clara Abraham, Erol Fikrig, Harry B Greenberg, Richard A Flavell
Rotavirus, a leading cause of severe gastroenteritis and diarrhoea in young children, accounts for around 215,000 deaths annually worldwide. Rotavirus specifically infects the intestinal epithelial cells in the host small intestine and has evolved strategies to antagonize interferon and NF-κB signalling, raising the question as to whether other host factors participate in antiviral responses in intestinal mucosa. The mechanism by which enteric viruses are sensed and restricted in vivo, especially by NOD-like receptor (NLR) inflammasomes, is largely unknown...
June 21, 2017: Nature
https://www.readbyqxmd.com/read/28634240/leucine-biosynthesis-is-involved-in-regulating-high-lipid-accumulation-in-yarrowia-lipolytica
#13
Eduard J Kerkhoven, Young-Mo Kim, Siwei Wei, Carrie D Nicora, Thomas L Fillmore, Samuel O Purvine, Bobbie-Jo Webb-Robertson, Richard D Smith, Scott E Baker, Thomas O Metz, Jens Nielsen
The yeast Yarrowia lipolytica is a potent accumulator of lipids, and lipogenesis in this organism can be influenced by a variety of factors, such as genetics and environmental conditions. Using a multifactorial study, we elucidated the effects of both genetic and environmental factors on regulation of lipogenesis in Y. lipolytica and identified how two opposite regulatory states both result in lipid accumulation. This study involved comparison of a strain overexpressing diacylglycerol acyltransferase (DGA1) with a control strain grown under either nitrogen or carbon limitation conditions...
June 20, 2017: MBio
https://www.readbyqxmd.com/read/28633499/lateralized-basal-ganglia-vulnerability-to-pesticide-exposure-in-asymptomatic-agricultural-workers
#14
Mechelle M Lewis, Nicholas W Sterling, Guangwei Du, Eun-Young Lee, Grace Shyu, Michael Goldenberg, Thomas Allen, Christy Stetter, Lan Kong, Shedra Amy Snipes, Byron C Jones, Honglei Chen, Richard B Mailman, Xuemei Huang
Background: Pesticide exposure is linked to Parkinson's disease (PD), a neurodegenerative disorder marked by dopamine cell loss in the substantia nigra of the basal ganglia (BG) that often presents asymmetrically. We previously reported that pesticide-exposed agricultural workers (AW) have nigral diffusion tensor (DTI) changes. The current study sought to confirm this finding, and explore its hemisphere and regional specificity within BG structures using an independent sample population...
June 19, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28633309/tmprss2-erg-gene-fusions-in-prostate-cancer-of-west-african-men-and-a-meta-analysis-of-racial-differences
#15
Cindy Ke Zhou, Denise Young, Edward D Yeboah, Sally B Coburn, Yao Tettey, Richard B Biritwum, Andrew A Adjei, Evelyn Tay, Shelley Niwa, Ann Truelove, Judith Welsh, James E Mensah, Robert N Hoover, Isabell A Sesterhenn, Ann W Hsing, Shiv Srivastava, Michael B Cook
The prevalence of TMPRSS2-ERG fusions in prostate cancer varies by race. However, such somatic aberration and its association with prognostic factors have neither been studied in a West African population nor been systematically reviewed in the context of racial differences. We used immunohistochemistry to assess ERG expression as the established surrogate of ERG fusion genes among 262 prostate cancer biopsies from the Ghana Prostate Study. Poisson regression with robust variance estimation provided prevalence ratios and 95% confidence intervals of ERG expression in relation to patients' characteristics...
June 12, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28632601/navigation-in-total-knee-arthroplasty-a-procedure-whose-time-has-not-come-commentary-on-an-article-by-young-hoo-kim-md-et-al-the-clinical-outcome-of-computer-navigated-compared-with-conventional-knee-arthroplasty-in-the-same-patients-a-prospective-randomized
#16
https://www.readbyqxmd.com/read/28632464/effects-of-video-modeling-with-video-feedback-on-vocational-skills-of-adults-with-autism-spectrum-disorder
#17
Derek L English, Sadhana Gounden, Richard E Dagher, Shu Fen Chan, Brett E Furlonger, Angelika Anderson, Dennis W Moore
OBJECTIVE: To examine the effectiveness of a video modeling (VM) with video feedback (VFB) intervention to teach vocational gardening skills to three adults with autism spectrum disorder (ASD). METHOD: A multiple probe design across skills was used to assess the effects of the intervention on the three participants' ability to perform skills accurately. RESULTS: The use of VM with VFB led to improvements across skills for two of the participants...
February 16, 2017: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/28631606/highly-pathogenic-avian-influenza-h5n1-clade-2-3-2-1-and-clade-2-3-4-viruses-do-not-induce-a-clade-specific-phenotype-in-mallard-ducks
#18
Mariette Ducatez, Stephanie Sonnberg, Jeri Carol Crumpton, Adam Rubrum, Phouvong Phommachanh, Bounlom Douangngeun, Malik Peiris, Yi Guan, Robert Webster, Richard Webby
Among the diverse clades of highly pathogenic avian influenza (HPAI) H5N1 viruses of the goose/Guangdong lineage, only a few have been able to spread across continents: clade 2.2 viruses spread from China to Europe and into Africa in 2005-2006, clade 2.3.2.1 viruses spread from China to Eastern Europe in 2009-2010 and clade 2.3.4.4 viruses of the H5Nx subtype spread from China to Europe and North America in 2014/2015. While the poultry trade and wild-bird migration have been implicated in the spread of HPAI H5N1 viruses, it has been proposed that robust virus-shedding by wild ducks in the absence of overt clinical signs may have contributed to the wider dissemination of the clade 2...
June 20, 2017: Journal of General Virology
https://www.readbyqxmd.com/read/28626087/effect-of-obesity-and-underweight-status-on-perioperative-outcomes-of-congenital-heart-operations-in-children-adolescents-and-young-adults-an-analysis-of-data-from-the-society-of-thoracic-surgeons-database
#19
Michael L O'Byrne, Sunghee Kim, Christoph P Hornik, Babatunde A Yerokun, Roland A Matsouaka, Jeffrey P Jacobs, Marshall L Jacobs, Richard A Jonas
Background -Extreme BMI (either very high or very low) has been associated with increased risk of adverse perioperative outcome in adults undergoing cardiac surgery. The effect of body-mass index (BMI) on perioperative outcomes in congenital heart disease patients has not been evaluated. Methods -A multicenter retrospective cohort study was performed studying patients 10-35 years undergoing a congenital heart disease operation in the Society of Thoracic Surgeons Congenital Heart Surgery Database between 1/1/2010-12/31/2015...
June 16, 2017: Circulation
https://www.readbyqxmd.com/read/28626023/microarray-analysis-of-aging-associated-immune-system-alterations-in-the-rostral-ventrolateral-medulla-of-f344-rats
#20
Sivasai Balivada, Chanran K Ganta, Yongqing Zhang, Hitesh N Pawar, Richard J Ortiz, Kevin G Becker, Arshad M Khan, Michael J Kenney
The rostral ventrolateral medulla (RVLM) is an area of the brainstem that contains diverse neural substrates that are involved in systems critical for physiological function. There is evidence that aging affects some neural substrates within the RVLM, although age-related changes in RVLM molecular mechanisms are not well established. The goal of the present study was to characterize the transcriptomic profile of the aging RVLM and to test the hypothesis that aging is associated with altered gene expression in the RVLM, with an emphasis on immune system associated gene transcripts...
June 16, 2017: Physiological Genomics
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