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https://www.readbyqxmd.com/read/29126132/cost-effective-and-accurate-method-of-measuring-fetal-fraction-using-snp-imputation
#1
Minjeong Kim, Jai-Hoon Kim, Kangseok Kim, Sunshin Kim
Motivation: With the discovery of cell-free fetal DNA in maternal blood, the demand for non-invasive prenatal testing (NIPT) has been increasing. To obtain reliable NIPT results, it is important to accurately estimate the fetal fraction. In this study, we propose an accurate and cost-effective method for measuring fetal fractions using single-nucleotide polymorphisms (SNPs). Results: A total of 84 samples were sequenced via semiconductor sequencing using a 0.3x sequencing coverage...
November 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29116318/land-use-land-cover-and-prevalence-of-canine-visceral-leishmaniasis-in-teresina-piau%C3%A3-state-brazil-an-approach-using-orbital-remote-sensing
#2
Anna Barreto Fernandes Figueiredo, Guilherme Loureiro Werneck, Maria do Socorro Pires E Cruz, João Pereira da Silva, Andréa Sobral de Almeida
This study examines the association between land use and land cover and the occurrence of canine visceral leishmaniasis (VL). This is a case-control study in which cases were households with seropositive dogs for canine VL and controls were households with seronegative dogs. We used remote sensing images (CBERS: 2/CCD and 2B/HRC) to describe land use and cover in squares of 625m2 in the study area. Odds of canine VL were twice as high in households located in squares with an area ≤ 25m2 covered by residential structures with little vegetation in comparison to those where the cover reached ≥ 600m2...
November 6, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29102817/low-frequency-fluctuation-of-brain-spontaneous-activity-and-obsessive-compulsive-symptoms-in-a-large-school-age-sample
#3
Marcelo Q Hoexter, Claudinei E Biazoli, Pedro G Alvarenga, Marcelo C Batistuzzo, Giovanni A Salum, Ary Gadelha, Pedro M Pan, Mauricio Anés, Leticia Mancini-Martins, Luciana M Moura, Carles Soriano-Mas, Marco A G Del' Aquilla, Edson Amaro, Luis A Rohde, Andrea P Jackowski, Rodrigo A Bressan, Euripedes C Miguel, Maria C do Rosario, João R Sato
BACKGROUND: The present study was designed to explore alterations in brain dynamics at rest that are associated with Obsessive Compulsive Symptoms (OCS) in childhood by measuring low frequency fluctuation of spontaneous brain activity in a large school community sample from a developing country. METHOD: Resting state functional magnetic resonance imaging data were collected in a sample of 655 children and adolescents (6-15 years old) from the brazilian 'High Risk Cohort Study for Psychiatric Disorders (HRC)'...
October 16, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29098590/identification-and-characterization-of-key-circadian-clock-genes-of-tobacco-hairy-roots-putative-regulatory-role-in-xenobiotic-metabolism
#4
Lucas G Sosa Alderete, Mario E Guido, Elizabeth Agostini, Paloma Mas
The circadian clock is an endogenous system that allows organisms to daily adapt and optimize their physiology and metabolism. We studied the key circadian clock gene (CCG) orthologs in Nicotiana tabacum seedlings and in hairy root cultures (HRC). Putative genes involved in the metabolism of xenobiotic compounds (MXC) were selected and their expression profiles were also analyzed. Seedlings and HRC displayed similar diurnal variations in the expression profiles for the CCG examined under control conditions (CC)...
November 3, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29029869/determination-of-the-hip-rotation-centre-from-landmarks-in-pelvic-radiograph
#5
Hasan Bombaci, Bestami Simsek, Mehmet Soyarslan, Mustafa Murat Yildirim
OBJECTIVE: The hip rotation centre (HRC) is an important reference point in cases of total hip arthroplasty (THA). The aim of this study is to investigate the reference points in the Turkish population that enable the identification of the HRC in standard pelvic radiographs. METHODS: The pelvic radiographs of 50 women and 50 men were examined. The mean age was 46.2 (range; 18-91). Patients with deformity of the hip joint and non-standard pelvic radiograph due to hip flexion contracture were excluded from the study...
October 10, 2017: Acta Orthopaedica et Traumatologica Turcica
https://www.readbyqxmd.com/read/28967577/progressive-surgical-autonomy-observed-in-a-hand-surgery-resident-clinic-model
#6
Kristopher M Day, Evon S Zoog, Chase T Kluemper, Jillian K Scott, Caleb M Steffen, James Woodfin Kennedy, David Marshall Jemison, Jason P Rehm, Mark A Brzezienski
OBJECTIVE: Resident clinics (RCs) are intended to catalyze the achievement of educational milestones through progressively autonomous patient care. However, few studies quantify their effect on competency-based surgical education, and no previous publications focus on hand surgery RCs (HRCs). We demonstrate the achievement of progressive surgical autonomy in an HRC model. DESIGN: A retrospective review of all patients seen in a weekly half-day HRC from October 2010 to October 2015 was conducted...
September 26, 2017: Journal of Surgical Education
https://www.readbyqxmd.com/read/28951149/recycling-potential-for-low-voltage-and-high-voltage-high-rupturing-capacity-fuse-links
#7
Constantinos S Psomopoulos, Dimitrios A Barkas, Stavros D Kaminaris, George C Ioannidis, Panagiotis Karagiannopoulos
Low voltage and high voltage high-rupturing-capacity fuse links are used in LV and HV installations respectively, protecting mainly the LV and HV electricity distribution and transportation networks. The Waste Electrical and Electronic Equipment Directive (2002/96/EC) for "Waste of electrical and electronic equipment" is the main related legislation and as it concerns electrical and electronic equipment, it includes electric fuses. Although, the fuse links consist of recyclable materials, only small scale actions have been implemented for their recycling around Europe...
September 23, 2017: Waste Management
https://www.readbyqxmd.com/read/28938728/modeling-of-live-birth-rates-and-cost-effectiveness-of-oocyte-cryopreservation-for-cancer-patients-prior-to-high-and-low-risk-gonadotoxic-chemotherapy
#8
B Lyttle Schumacher, N Grover, T Mesen, A Steiner, J Mersereau
STUDY QUESTION: What is the live-birth rate (LBR) and cost-effectiveness of fertility preservation with oocyte cryopreservation (FP-OC) compared to expectant management in cancer patients age 25-40 based on estimated gonadotoxicity of treatments 5 years after cancer diagnosis? SUMMARY ANSWER: Oocyte cryopreservation prior to cancer treatment is more costly, yet more effective (producing more live births), than not undergoing oocyte cryopreservation but it is most beneficial for patients undergoing high-risk chemotherapy (HRC)...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28861891/improving-power-of-association-tests-using-multiple-sets-of-imputed-genotypes-from-distributed-reference-panels
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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