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https://www.readbyqxmd.com/read/28938720/deep-whole-genome-sequencing-of-90-han-chinese-genomes
#1
Tianming Lan, Haoxiang Lin, Wenjuan Zhu, Tellier Christian Asker Melchior Laurent, Mengcheng Yang, Xin Liu, Jun Wang, Jian Wang, Huanming Yang, Xun Xu, Xiaosen Guo
Next-generation sequencing provides a high-resolution insight into human genetic information. However, the focus of previous studies has primarily been on low-coverage data due to the high cost of sequencing. Although the 1000 Genomes Project and the Haplotype Reference Consortium have both provided powerful reference panels for imputation, low-frequency and novel variants remain difficult to discover and call with accuracy on the basis of low-coverage data. Deep sequencing provides an optimal solution for the problem of these low-frequency and novel variants...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938248/a-youth-compendium-of-physical-activities-activity-codes-and-metabolic-intensities
#2
Nancy F Butte, Kathleen B Watson, Kate Ridley, Issa F Zakeri, Robert G McMurray, Karin A Pfeiffer, Scott E Crouter, Stephen D Herrmann, David R Bassett, Alexander Long, Zekarias Berhane, Stewart G Trost, Barbara E Ainsworth, David Berrigan, Janet E Fulton
PURPOSE: A Youth Compendium of Physical Activities (Youth Compendium) was developed to estimate the energy costs of physical activities using data on youth only. METHODS: Based on a literature search and pooled data of energy expenditure measurements in youth, the energy costs of 196 activities were compiled in 16 activity categories to form a Youth Compendium of Physical Activities. To estimate the intensity of each activity, measured oxygen consumption (V[Combining Dot Above]O2) was divided by basal metabolic rate (Schofield age-, sex- and mass-specific equations) to produce a youth MET (METy)...
September 21, 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28936712/early-goal-directed-nutrition-versus-standard-of-care-in-adult-intensive-care-patients-the-single-centre-randomised-outcome-assessor-blinded-eat-icu-trial
#3
Matilde Jo Allingstrup, Jens Kondrup, Jørgen Wiis, Casper Claudius, Ulf Gøttrup Pedersen, Rikke Hein-Rasmussen, Mads Rye Bjerregaard, Morten Steensen, Tom Hartvig Jensen, Theis Lange, Martin Bruun Madsen, Morten Hylander Møller, Anders Perner
PURPOSE: We assessed the effects of early goal-directed nutrition (EGDN) vs. standard nutritional care in adult intensive care unit (ICU) patients. METHODS: We randomised acutely admitted, mechanically ventilated ICU patients expected to stay longer than 3 days in the ICU. In the EGDN group we estimated nutritional requirements by indirect calorimetry and 24-h urinary urea aiming at covering 100% of requirements from the first full trial day using enteral and parenteral nutrition...
September 22, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28934948/multi-breed-genomic-prediction-using-bayes-r-with-sequence-data-and-dropping-variants-with-a-small-effect
#4
Irene van den Berg, Phil J Bowman, Iona M MacLeod, Ben J Hayes, Tingting Wang, Sunduimijid Bolormaa, Mike E Goddard
BACKGROUND: The increasing availability of whole-genome sequence data is expected to increase the accuracy of genomic prediction. However, results from simulation studies and analysis of real data do not always show an increase in accuracy from sequence data compared to high-density (HD) single nucleotide polymorphism (SNP) chip genotypes. In addition, the sheer number of variants makes analysis of all variants and accurate estimation of all effects computationally challenging. Our objective was to find a strategy to approximate the analysis of whole-sequence data with a Bayesian variable selection model...
September 21, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28934524/associations-of-sleep-duration-and-disturbances-with-hypertension-in-metropolitan-cities-of-delhi-chennai-and-karachi-in-south-asia-cross-sectional-analysis-of-the-carrs-study
#5
Roopa Shivashankar, Dimple Kondal, Mohammed K Ali, Ruby Gupta, Rajendra Pradeepa, Viswanathan Mohan, Muhammad Masood Kadir, K M Venkat Narayan, Nikhil Tandon, Dorairaj Prabhakaran, Anne Peasey
Objectives: Sleep duration and disturbances may be risk factors for hypertension. Despite the high burden of hypertension in South Asia, little is known about this relationship in this region. Methods: We analyzed population-level cross-sectional data from the Centre for Cardiometabolic Risk Reduction in South Asia (CARRS) study that recruited representative samples of adults ≥ 20 years from three cities-Delhi, Chennai (India), and Karachi (Pakistan) during 2010-2011...
September 1, 2017: Sleep
https://www.readbyqxmd.com/read/28934164/spatial-copula-model-for-imputing-traffic-flow-data-from-remote-microwave-sensors
#6
Xiaolei Ma, Sen Luan, Bowen Du, Bin Yu
Issues of missing data have become increasingly serious with the rapid increase in usage of traffic sensors. Analyses of the Beijing ring expressway have showed that up to 50% of microwave sensors pose missing values. The imputation of missing traffic data must be urgently solved although a precise solution that cannot be easily achieved due to the significant number of missing portions. In this study, copula-based models are proposed for the spatial interpolation of traffic flow from remote traffic microwave sensors...
September 21, 2017: Sensors
https://www.readbyqxmd.com/read/28931531/clinical-and-cost-effectiveness-of-the-lightning-process-in-addition-to-specialist-medical-care-for-paediatric-chronic-fatigue-syndrome-randomised-controlled-trial
#7
Esther M Crawley, Daisy M Gaunt, Kirsty Garfield, William Hollingworth, Jonathan A C Sterne, Lucy Beasant, Simon M Collin, Nicola Mills, Alan A Montgomery
OBJECTIVE: Investigate the effectiveness and cost-effectiveness of the Lightning Process (LP) in addition to specialist medical care (SMC) compared with SMC alone, for children with chronic fatigue syndrome (CFS)/myalgic encephalitis (ME). DESIGN: Pragmatic randomised controlled open trial. Participants were randomly assigned to SMC or SMC+LP. Randomisation was minimised by age and gender. SETTING: Specialist paediatric CFS/ME service. PATIENTS: 12-18 year olds with mild/moderate CFS/ME...
September 20, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28930956/implications-of-the-trauma-quality-improvement-project-inclusion-of-nonsurvivable-injuries-in-performance-benchmarking
#8
Jiselle Bock Heaney, Rebecca Schroll, Jennifer Turney, Lance Stuke, Alan B Marr, Patrick Greiffenstein, Rosemarie Robledo, Amanda Theriot, Juan Duchesne, John Hunt
BACKGROUND: The Trauma Quality Improvement Project (TQIP) uses an injury prediction model for performance benchmarking. We hypothesize that at a Level I high-volume penetrating trauma center, performance outcomes will be biased due to inclusion of patients with nonsurvivable injuries. METHODS: Retrospective chart review was conducted for all patients included in the institutional TQIP analysis from 2013 to 2014 with length of stay (LOS) less than 1 day to determine survivability of the injuries...
October 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28930046/canadian-benchmarks-for-acute-injury-care
#9
Lynne Moore, David Evans, Natalie L Yanchar, Jaimini Thakore, Henry Thomas Stelfox, Sayed Morad Hameed, Richard Simons, John Kortbeek, Julien Clément, François Lauzier, Alexis F Turgeon
BACKGROUND: Acute care injury outcomes vary substantially across Canadian provinces and trauma centres. Our aim was to develop Canadian benchmarks to monitor mortality and hospital length of stay (LOS) for injury admissions. METHODS: Benchmarks were derived using data from the Canadian National Trauma Registry on patients with major trauma admitted to any level I or II trauma centre in Canada and from the following patient subgroups: isolated traumatic brain injury (TBI), isolated thoracoabdominal injury, multisystem blunt injury, age 65 years or older...
October 1, 2017: Canadian Journal of Surgery. Journal Canadien de Chirurgie
https://www.readbyqxmd.com/read/28929317/risk-alleles-for-iga-nephropathy-associated-snps-conferred-completely-opposite-effects-to-idiopathic-membranous-nephropathy-in-chinese-han
#10
Xiaosong Qin, Chen Wang, Guanting Lu, Mengle Peng, Guixue Cheng, Hongquan Zhu, Yun Cao, Jianhua Liu, Yuzhong Li, Hong Cai, Funing Yang, Yanhong Liu, Xiaoyu Chen, Liubing Li, Nan Wan, Xiaoting Wen, Shijun Li, Ruili Nie, Dongchun Qin, Yongzhe Li, Yong Liu
The coexistence of immunoglobulin A nephropathy (IgAN) and idiopathic membranous nephropathy (IMN) in a few cases suggested that there could be existed a similar mechanism in pathogenesis of these two types of primary glomerulonephritis. In order to verify this hypothesis, a total of 23 reported IgAN-associated SNPs were genotyped in a cohort of 485 IMN patients and 569 healthy controls with Chinese Han origin. After Cochran-Armitage test for trend analysis, seven IgAN-associated SNPs located in the major histocompatibility complex (MHC) region were found to be significantly associated with the susceptibility of IMN, with rs9275596 as the top one (p = 1...
September 19, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28928189/disability-acquisition-and-mental-health-effect-modification-by-demographic-and-socioeconomic-characteristics-using-data-from-an-australian-longitudinal-study
#11
Zoe Aitken, Julie Anne Simpson, Rebecca Bentley, Anne Marie Kavanagh
OBJECTIVES: There is evidence of a causal relationship between disability acquisition and poor mental health, but the substantial heterogeneity in the magnitude of the effect is poorly understood and may be aetiologically informative. This study aimed to identify demographic and socioeconomic factors that modify the effect of disability acquisition on mental health. DESIGN AND SETTING: The Household, Income and Labour Dynamics in Australia Survey is a nationally representative longitudinal survey of Australian households that has been conducted annually since 2001...
September 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28928185/comparative-effectiveness-of-injectable-penicillin-versus-a-combination-of-penicillin-and-gentamicin-in-children-with-pneumonia-characterised-by-indrawing-in-kenya-protocol-for-an-observational-study
#12
Lucas Malla, Rafael Perera-Salazar, Emily McFadden, Mike English
INTRODUCTION: WHO treatment guidelines are widely recommended for guiding treatment for millions of children with pneumonia every year across multiple low-income and middle-income countries. Guidelines are based on synthesis of available evidence that provides moderate certainty in evidence of effects for forms of pneumonia that can result in hospitalisation. However, trials have included fewer children from Africa than other settings, and it is suggested that African children with pneumonia have higher mortality...
September 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28927376/systematic-review-of-statistical-approaches-to-quantify-or-correct-for-measurement-error-in-a-continuous-exposure-in-nutritional-epidemiology
#13
Derrick A Bennett, Denise Landry, Julian Little, Cosetta Minelli
BACKGROUND: Several statistical approaches have been proposed to assess and correct for exposure measurement error. We aimed to provide a critical overview of the most common approaches used in nutritional epidemiology. METHODS: MEDLINE, EMBASE, BIOSIS and CINAHL were searched for reports published in English up to May 2016 in order to ascertain studies that described methods aimed to quantify and/or correct for measurement error for a continuous exposure in nutritional epidemiology using a calibration study...
September 19, 2017: BMC Medical Research Methodology
https://www.readbyqxmd.com/read/28926372/attrition-bias-related-to-missing-outcome-data-a-longitudinal-simulation-study
#14
Antoine Lewin, Ruben Brondeel, Tarik Benmarhnia, Frédérique Thomas, Basile Chaix
BACKGROUND: Most longitudinal studies do not address potential selection biases due to selective attrition. Using empirical data and simulating additional attrition, we investigated the effectiveness of common approaches to handle missing outcome data from attrition in the association between individual education level and change in body mass index (BMI). METHODS: Using data from the two waves of the French RECORD Cohort Study (N = 7,172), we first examined how inverse probability weighting (IPW) and multiple imputation handled missing outcome data from attrition in the observed data (stage 1)...
September 18, 2017: Epidemiology
https://www.readbyqxmd.com/read/28924916/erratum-to-microvascular-effects-of-glucagon-like-peptide-1-receptor-agonists-in-type-2-diabetes-a-meta-analysis-of-randomized-controlled-trials
#15
Ilaria Dicembrini, Besmir Nreu, Alessia Scatena, Francesco Andreozzi, Giorgio Sesti, Edoardo Mannucci, Matteo Monami
In the manuscript, the events of nephropathy and retinopathy recorded for the LEADER trial (Marso et al. 2016) were erroneously imputed; the numbers reported in Table 1 for that trial refer to serious adverse events, and not to total events, as stated in Methods. The correct figures are 268 and 416 cases of nephropathy, and 106 and 92 cases of retinopathy in liraglutide and control arms, respectively. As a consequence, the overall risk (MH-OR [95% CI]) of nephropathy and retinopathy with GLP-1RA (vs all comparators) is 0...
September 19, 2017: Acta Diabetologica
https://www.readbyqxmd.com/read/28923465/continuous-glucose-monitoring-in-pregnant-women-with-type-1-diabetes-conceptt-a-multicentre-international-randomised-controlled-trial
#16
Denice S Feig, Lois E Donovan, Rosa Corcoy, Kellie E Murphy, Stephanie A Amiel, Katharine F Hunt, Elisabeth Asztalos, Jon F R Barrett, J Johanna Sanchez, Alberto de Leiva, Moshe Hod, Lois Jovanovic, Erin Keely, Ruth McManus, Eileen K Hutton, Claire L Meek, Zoe A Stewart, Tim Wysocki, Robert O'Brien, Katrina Ruedy, Craig Kollman, George Tomlinson, Helen R Murphy
BACKGROUND: Pregnant women with type 1 diabetes are a high-risk population who are recommended to strive for optimal glucose control, but neonatal outcomes attributed to maternal hyperglycaemia remain suboptimal. Our aim was to examine the effectiveness of continuous glucose monitoring (CGM) on maternal glucose control and obstetric and neonatal health outcomes. METHODS: In this multicentre, open-label, randomised controlled trial, we recruited women aged 18-40 years with type 1 diabetes for a minimum of 12 months who were receiving intensive insulin therapy...
September 14, 2017: Lancet
https://www.readbyqxmd.com/read/28923017/within-breed-and-multi-breed-gwas-on-imputed-whole-genome-sequence-variants-reveal-candidate-mutations-affecting-milk-protein-composition-in-dairy-cattle
#17
Marie-Pierre Sanchez, Armelle Govignon-Gion, Pascal Croiseau, Sébastien Fritz, Chris Hozé, Guy Miranda, Patrice Martin, Anne Barbat-Leterrier, Rabia Letaïef, Dominique Rocha, Mickaël Brochard, Mekki Boussaha, Didier Boichard
BACKGROUND: Genome-wide association studies (GWAS) were performed at the sequence level to identify candidate mutations that affect the expression of six major milk proteins in Montbéliarde (MON), Normande (NOR), and Holstein (HOL) dairy cattle. Whey protein (α-lactalbumin and β-lactoglobulin) and casein (αs1, αs2, β, and κ) contents were estimated by mid-infrared (MIR) spectrometry, with medium to high accuracy (0.59 ≤ R(2) ≤ 0.92), for 848,068 test-day milk samples from 156,660 cows in the first three lactations...
September 18, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28921602/human-leukocyte-antigen-variants-and-risk-of-hepatocellular-carcinoma-modified-by-hcv-genotypes-a-genome-wide-association-study
#18
Mei-Hsuan Lee, Yu-Han Huang, Hsuan-Yu Chen, Charles Seik-Soon Khor, Ya-Hsuan Chang, Yu-Ju Lin, Chin-Lan Jen, Sheng-Nan Lu, Hwai-I Yang, Nao Nishida, Masaya Sugiyama, Masashi Mizokami, Yong Yuan, Gibert L'Italien, Katsushi Tokunaga, Chien-Jen Chen
BACKGROUND & AIMS: We conducted a genome-wide association study (GWAS) to discover genetic variants associated with hepatitis C virus (HCV)-related hepatocellular carcinoma (HCC). METHODS: We genotyped 502 HCC cases and 749 non-HCC controls by using the Axiom(TM) -CHB genome-wide array. After identifying single nucleotide polymorphism (SNP) cluster located in the human leukocyte antigen region which were potentially associated with HCC, HLA-DQB1 genotyping was performed to analyze 994 anti-HCV seropositives collected in the period of 1991-2013 in a community-based cohort for evaluating long-term predictability of HLA variants for identifying the risk of HCC...
September 16, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28919820/prediction-models-for-the-mortality-risk-in-chronic-dialysis-patients-a-systematic-review-and-independent-external-validation-study
#19
Chava L Ramspek, Pauline Wm Voskamp, Frans J van Ittersum, Raymond T Krediet, Friedo W Dekker, Merel van Diepen
OBJECTIVE: In medicine, many more prediction models have been developed than are implemented or used in clinical practice. These models cannot be recommended for clinical use before external validity is established. Though various models to predict mortality in dialysis patients have been published, very few have been validated and none are used in routine clinical practice. The aim of the current study was to identify existing models for predicting mortality in dialysis patients through a review and subsequently to externally validate these models in the same large independent patient cohort, in order to assess and compare their predictive capacities...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28919492/human-platelet-antigens-are-associated-with-febrile-non-hemolytic-transfusion-reactions
#20
Ding-Ping Chen, Ying-Hao Wen, Jang-Jih Lu, Ching-Ping Tseng, Wan-Ling Chen, Su-Wei Chang
BACKGROUND: Febrile non-hemolytic transfusion reaction (FNHTR) is the most common type of transfusion reactions, and it could be reduced by transfusing patients with leukocyte-poor blood products. However, FNHTR still occur in certain patients transfused with leukocyte-poor red blood cell (LPR) products. It is examined whether human platelet antigen (HPA) could be a potential membrane antigen that plays a role in FNHTR. METHODS: A total of 120 inpatient subjects who transfused with LPR (60 in FNHTR group, 60 in control group) were typed for HPA-2, HPA-3, and HPA-15 using sequence specific primer-polymerase chain reaction (SSP-PCR) and electrophoresis...
September 14, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
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