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https://www.readbyqxmd.com/read/28861891/improving-power-of-association-tests-using-multiple-sets-of-imputed-genotypes-from-distributed-reference-panels
#1
Wei Zhou, Lars G Fritsche, Sayantan Das, He Zhang, Jonas B Nielsen, Oddgeir L Holmen, Jin Chen, Maoxuan Lin, Maiken B Elvestad, Kristian Hveem, Goncalo R Abecasis, Hyun Min Kang, Cristen J Willer
The accuracy of genotype imputation depends upon two factors: the sample size of the reference panel and the genetic similarity between the reference panel and the target samples. When multiple reference panels are not consented to combine together, it is unclear how to combine the imputation results to optimize the power of genetic association studies. We compared the accuracy of 9,265 Norwegian genomes imputed from three reference panels-1000 Genomes phase 3 (1000G), Haplotype Reference Consortium (HRC), and a reference panel containing 2,201 Norwegian participants from the population-based Nord Trøndelag Health Study (HUNT) from low-pass genome sequencing...
September 1, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28859293/impaired-calcium-homeostasis-is-associated-with-sudden-cardiac-death-and-arrhythmias-in-a-genetic-equivalent-mouse-model-of-the-human-hrc-ser96ala-variant
#2
Christos Tzimas, Daniel M Johnson, Demetrio J Santiago, Elizabeth Vafiadaki, Demetrios A Arvanitis, Constantinos H Davos, Aimilia Varela, Nikolaos C Athanasiadis, Constantinos Dimitriou, Michalis Katsimpoulas, Stephan Sonntag, Mariya Kryzhanovska, Doron Shmerling, Stephan E Lehnart, Karin R Sipido, Evangelia G Kranias, Despina Sanoudou
Aims: The histidine-rich calcium-binding protein (HRC) Ser96Ala variant has previously been identified as a potential biomarker for ventricular arrhythmias and sudden cardiac death in patients with idiopathic dilated cardiomyopathy. Herein, the role of this variant in cardiac pathophysiology is delineated through a novel mouse model, carrying the human mutation in the homologous mouse position. Methods and results: The mouse HRC serine 81, homologous to human HRC serine 96, was mutated to alanine, using knock-in gene targeting...
September 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28854217/perception-of-recovery-of-households-affected-by-2008-wenchuan-earthquake-a-structural-equation-model
#3
Le Lin, Ying Wang, Tianxue Liu
Much of the literature on recovery focuses on the economy, the physical environment and infrastructure at a macro level, which may ignore the personal experiences of affected individuals during recovery. This paper combines internal factors at a micro level and external factors at a macro level to model for understanding perception of recovery (PoR). This study focuses on areas devastated by the 2008 Wenchuan earthquake in China. With respect to three recovery-related aspects (house recovery condition (HRC), family recovery power (FRP) and reconstruction investment (RI)), structural equation modeling (SEM) was applied...
2017: PloS One
https://www.readbyqxmd.com/read/28832748/prevalence-clinical-correlates-and-maternal-psychopathology-of-deliberate-self-harm-in-children-and-early-adolescents-results-from-a-large-community-study
#4
André R Simioni, Pedro M Pan, Ary Gadelha, Gisele G Manfro, Jair J Mari, Eurípedes C Miguel, Luis A Rohde, Giovanni A Salum
Objectives: Little is known about the prevalence and correlates of deliberate self-harm (DSH) in children from low- and middle-income countries. We investigated the prevalence of DSH and its clinical and maternal psychopathological associations in Brazilian children (n=2,508, ages 6-14y) in a community-based study. Methods: Participants of the High Risk Cohort Study for the Development of Childhood Psychiatric Disorders (HRC) and their mothers were assessed in structured interviews...
August 21, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28755626/the-use-of-forensic-dna-analysis-in-humanitarian-forensic-action-the-development-of-a-set-of-international-standards
#5
William H Goodwin
DNA analysis was first applied to the identification of victims of armed conflicts and other situations of violence (ACOSV) in the mid-1990s, starting in South America and the Balkans. Argentina was the first country to establish a genetic database specifically developed to identify disappeared children. Following on from these programs the early 2000s marked major programs, using a largely DNA-led approach, identifying missing persons in the Balkans and following the attack on the World Trade Center in New York...
September 2017: Forensic Science International
https://www.readbyqxmd.com/read/28731817/infrared-spectrometer-for-exomars-a-mast-mounted-instrument-for-the-rover
#6
Oleg I Korablev, Yurii Dobrolensky, Nadezhda Evdokimova, Anna A Fedorova, Ruslan O Kuzmin, Sergei N Mantsevich, Edward A Cloutis, John Carter, Francois Poulet, Jessica Flahaut, Andrew Griffiths, Matthew Gunn, Nicole Schmitz, Javier Martín-Torres, Maria-Paz Zorzano, Daniil S Rodionov, Jorge L Vago, Alexander V Stepanov, Andrei Yu Titov, Nikita A Vyazovetsky, Alexander Yu Trokhimovskiy, Alexander G Sapgir, Yurii K Kalinnikov, Yurii S Ivanov, Alexei A Shapkin, Andrei Yu Ivanov
ISEM (Infrared Spectrometer for ExoMars) is a pencil-beam infrared spectrometer that will measure reflected solar radiation in the near infrared range for context assessment of the surface mineralogy in the vicinity of the ExoMars rover. The instrument will be accommodated on the mast of the rover and will be operated together with the panoramic camera (PanCam), high-resolution camera (HRC). ISEM will study the mineralogical and petrographic composition of the martian surface in the vicinity of the rover, and in combination with the other remote sensing instruments, it will aid in the selection of potential targets for close-up investigations and drilling sites...
June 2017: Astrobiology
https://www.readbyqxmd.com/read/28717725/minding-the-gaps-in-cancer-pain-management-education-a-multicenter-study-of-clinical-residents-and-fellows-in-a-low-versus-high-resource-setting
#7
Charles Amoatey Odonkor, Ernest Osei-Bonsu, Oswald Tetteh, Andy Haig, Robert Samuel Mayer, Thomas J Smith
PURPOSE: Inadequate pain management training has been reported as a major cause of undertreatment of cancer pain. Yet, past research has not comprehensively compared the quality of cancer pain management education among physicians in training in high-resource countries (HRCs) with those in low-resource countries (LRCs). The purpose of this study was to examine and compare gaps in cancer pain management education among physician trainees in an HRC (United States) versus an LRC (Ghana)...
December 2016: Journal of Global Oncology
https://www.readbyqxmd.com/read/28602392/high-resolution-circuit-for-the-diagnosis-of-faecal-incontinence-patient-satisfaction
#8
Arantxa Muñoz-Duyos, Laura Lagares-Tena, Harold Vargas-Pierolas, Anna Rodón, Albert Navarro-Luna
INTRODUCTION: Despite its high prevalence, faecal incontinence (FI) is still underrated and underdiagnosed. Moreover, diagnosis and subsequent treatment can be a challenge for the colorectal surgeon because of its associated social taboo and embarrassment, and the wide range of symptoms. The aim of the present study is to describe a new high-resolution circuit (HRC) for FI diagnosis, that was implemented at our center and to evaluate patient satisfaction. METHODS: The structure and organization of the HRC are described...
May 2017: Cirugía Española
https://www.readbyqxmd.com/read/28493391/haplotype-reference-consortium-panel-practical-implications-of-imputations-with-large-reference-panels
#9
Adriana I Iglesias, Sven J van der Lee, Pieter W M Bonnemaijer, René Höhn, Abhishek Nag, Puya Gharahkhani, Anthony P Khawaja, Linda Broer, Paul J Foster, Christopher J Hammond, Pirro G Hysi, Elisabeth M van Leeuwen, Stuart MacGregor, David A Mackey, Johanna Mazur, Stefan Nickels, André G Uitterlinden, Caroline C W Klaver, Najaf Amin, Cornelia M van Duijn
Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, that is, 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio, a highly heritable endophenotype of glaucoma, in four cohorts using 1000GP and HRC imputations...
August 2017: Human Mutation
https://www.readbyqxmd.com/read/28452911/the-effect-of-hiv-centered-obstetric-care-on-perinatal-outcomes-among-a-cohort-of-women-living-with-hiv
#10
Anna M Powell, Julia M DeVita, Amartha Ogburu-Ogbonnaya, Andrea Peterson, Gweneth B Lazenby
BACKGROUND: Elimination of perinatal transmission is possible but limited by missed care opportunities. Our objective was to investigate the effects of HIV-centered obstetric care (HCC) on missed care opportunities and perinatal HIV transmission in 2 obstetric cohorts at our institution from 2000 to 2014. METHODS: This was a retrospective cohort study of HIV-exposed mother-infant pairs delivering from 2000 to 2014, analyzed according to SQUIRE 2.0 (Standards for Quality Improvement Reporting Excellence) guidelines...
August 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
https://www.readbyqxmd.com/read/28328097/markers-of-iron-status-in-chronic-kidney-disease
#11
REVIEW
Adam E Gaweda
Anemia is one of the main comorbidities related to chronic kidney disease (CKD). Until the advent of erythropoiesis stimulating agents (ESA), endogenous erythropoietin deficiency has been thought to be the main culprit of anemia in CKD patients. The use of ESAs has shed new light on the physiology of CKD anemia, where iron homeostasis plays an increasingly important role. Disorders of iron homeostasis occurring in CKD turn the anemia management in those patients into a complex multifactorial therapeutic task, where ESA and Iron dose must be properly balanced to achieve the desired outcome without exposing the patients to the risk of serious adverse events...
June 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28317819/-correlation-of-chronic-periodontal-disease-and-cardiovascular-disease
#12
A I Grudyanov, O N Tkacheva, T V Avraamova
The aim of the study was to assess correlative risk of progression of inflammatory periodontal lesions, the development of a systemic inflammatory reaction and cardiovascular diseases. The study involved 89 patients with chronic periodontal disease (CPD) of varying degrees. High cardiovascular disease risk was revealed in 8.8% of patients with moderate and 13.3% of patients with severe periodontal disease. It is proved that an additional factor contributing to the pathogenic relationship between periodontal inflammatory changes and the development of cardiovascular disease is systemic inflammatory response with increased hrC-reactive protein >3...
2017: Stomatologii︠a︡
https://www.readbyqxmd.com/read/28270201/exploration-of-haplotype-research-consortium-imputation-for-genome-wide-association-studies-in-20-032-generation-scotland-participants
#13
Reka Nagy, Thibaud S Boutin, Jonathan Marten, Jennifer E Huffman, Shona M Kerr, Archie Campbell, Louise Evenden, Jude Gibson, Carmen Amador, David M Howard, Pau Navarro, Andrew Morris, Ian J Deary, Lynne J Hocking, Sandosh Padmanabhan, Blair H Smith, Peter Joshi, James F Wilson, Nicholas D Hastie, Alan F Wright, Andrew M McIntosh, David J Porteous, Chris S Haley, Veronique Vitart, Caroline Hayward
BACKGROUND: The Generation Scotland: Scottish Family Health Study (GS:SFHS) is a family-based population cohort with DNA, biological samples, socio-demographic, psychological and clinical data from approximately 24,000 adult volunteers across Scotland. Although data collection was cross-sectional, GS:SFHS became a prospective cohort due to of the ability to link to routine Electronic Health Record (EHR) data. Over 20,000 participants were selected for genotyping using a large genome-wide array...
March 7, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28260202/biochemical-responses-and-physical-performance-during-high-intensity-resistance-circuit-training-in-hypoxia-and-normoxia
#14
RANDOMIZED CONTROLLED TRIAL
Domingo J Ramos-Campo, Jacobo A Rubio-Arias, Stéphane Dufour, Linda Chung, Vicente Ávila-Gandía, Pedro E Alcaraz
PURPOSE: The aim of this study was to analyze the effect of hypoxia on metabolic and acid-base balance, blood oxygenation, electrolyte, and half-squat performance variables during high-resistance circuit (HRC) training. METHODS: Twelve resistance-trained subjects participated in this study. After a 6RM testing session, participants performed three randomized trials of HRC: normoxia (NORM: FiO2 = 0.21), moderate hypoxia (MH: FiO2 = 0.16), or high hypoxia (HH: FiO2 = 0...
April 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28252626/-numbers-of-early-cd34-progenitors-of-bone-marrow-hematopoiesis-in-patients-with-diffuse-large-b-cell-lymphoma
#15
E I Dorokhina, A U Magomedova, I V Galtseva, V N Dvirnyk, S A Glinkina, S M Kulikov, S K Kravchenko
AIM: To estimate the number of early progenitors of bone marrow (BM) hematopoiesis in patients with diffuse large B-cell lymphoma (DLBCL) in the late period after high-dose chemotherapy (HDCT) according to the mNHL-BFM-90 program. SUBJECTS AND METHODS: The investigators analyzed the results of BM immunophenotypic and histological studies in 40 patients (median age, 57 years) with DLBCL who received HDCT according to the mNHL-BFM-90 program at the Hematology Research Center (HRC), Ministry of Health of the Russian Federation (MHRF), in the period 2002 to 2009...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28198457/identification-of-a-novel-type-iii-secretion-associated-outer-membrane-bound-protein-from-xanthomonas-campestris-pv-campestris
#16
Lei Li, Rui-Fang Li, Zhen-Hua Ming, Guang-Tao Lu, Ji-Liang Tang
Many bacterial pathogens employ the type III secretion system (T3SS) to translocate effector proteins into eukaryotic cells to overcome host defenses. To date, most of our knowledge about the T3SS molecular architecture comes from the studies on animal pathogens. In plant pathogens, nine Hrc proteins are believed to be structural components of the T3SS, of which HrcC and HrcJ form the outer and inner rings of the T3SS, respectively. Here, we demonstrated that a novel outer membrane-bound protein (HpaM) of Xanthomonas campestris pv...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28134132/heart-rate-complexity-analysis-in-brugada-syndrome-during-physical-stress-testing
#17
M Calvo, P Gomis, D Romero, V Le Rolle, N Béhar, P Mabo, A Hernández
Symptoms such as ventricular arrhythmias in Brugada syndrome (BS) typically occur at rest, especially during sleep, suggesting that the autonomic nervous system (ANS) function may be relevant in the arrhythmogenesis of the disease. The aim of this work was to assess the ANS response captured by nonlinear heart rate variability (HRV) measures in 69 patients diagnosed with BS, who underwent a standardized physical stress test. Heart rate complexity (HRC) was evaluated by the power-law scaling analysis (β slope) during rest, exercise, recovery and rest post-recovery, in order to discriminate between symptomatic and asymptomatic BS patients...
February 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28108841/increased-incidence-of-post-term-delivery-and-cesarean-section-after-frozen-thawed-embryo-transfer-during-a-hormone-replacement-cycle
#18
Kazuki Saito, Kenji Miyado, Kenji Yamatoya, Akira Kuwahara, Eisuke Inoue, Mami Miyado, Maki Fukami, Tomonori Ishikawa, Takakazu Saito, Toshiro Kubota, Hidekazu Saito
PURPOSE: This study aimed to clarify the risks of adverse pregnancy outcomes in patients who conceive singletons after frozen embryo transfer (FET) during a hormone replacement cycle and their offspring. METHODS: A retrospective cohort study was conducted in patients who conceived after FET, based on the Japanese-assisted reproductive technology registry for 2013. The perinatal outcomes in cases with live-born singletons achieved through natural ovulatory cycle FET (NC-FET) (n = 6287) or hormone replacement cycle FET (HRC-FET) (n = 10,235) were compared...
April 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28051295/long-term-immobilization-of-technetium-via-bioremediation-with-slow-release-substrates
#19
Laura Newsome, Adrian Cleary, Katherine Morris, Jonathan R Lloyd
Radionuclides are present in groundwater at contaminated nuclear facilities with technetium-99, one of the most mobile radionuclides encountered. In situ bioremediation via the generation of microbially reducing conditions has the potential to remove aqueous and mobile Tc(VII) from groundwater as insoluble Tc(IV). However, questions remain regarding the optimal methods of biostimulation and the stability of reduced Tc(IV) phases under oxic conditions. Here, we selected a range of slow-release electron donor/chemical reduction based substrates available for contaminated land treatment, and assessed their potential to stimulate the formation of recalcitrant Tc(IV) biominerals under conditions relevant to radioactively contaminated land...
February 7, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/27991471/cigarette-and-snus-modified-association-between-unprotected-exposure-to-noise-from-hunting-rifle-caliber-weapons-and-high-frequency-hearing-loss-a-cross-sectional-study-among-swedish-hunters
#20
Louise Honeth, Peter Ström, Alexander Ploner, Dan Bagger-Sjöbäck, Ulf Rosenhall, Olof Nyrén
AIM: To investigate in this cross-sectional study among Swedish hunters if tobacco use modifies the previously observed association, expressed as prevalence ratio (PR), between unprotected exposure to impulse noise from hunting rifle caliber (HRC) weapons and high-frequency hearing impairment (HFHI). SETTINGS AND DESIGN: A nationwide cross-sectional epidemiologic study was conducted among Swedish sport hunters in 2012. MATERIALS AND METHODS: The study was Internet-based and consisted of a questionnaire and an Internet-based audiometry test...
November 2016: Noise & Health
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