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https://www.readbyqxmd.com/read/28346504/diagnostic-accuracy-of-two-multiplex-real-time-polymerase-chain-reaction-assays-for-the-diagnosis-of-meningitis-in-children-in-a-resource-limited-setting
#1
Jermaine Khumalo, Mark Nicol, Diana Hardie, Rudzani Muloiwa, Phindile Mteshana, Colleen Bamford
INTRODUCTION: Accurate etiological diagnosis of meningitis is important, but difficult in resource-limited settings due to prior administration of antibiotics and lack of viral diagnostics. We aimed to develop and validate 2 real-time multiplex PCR (RT-PCR) assays for the detection of common causes of community-acquired bacterial and viral meningitis in South African children. METHODS: We developed 2 multiplex RT- PCRs for detection of S. pneumoniae, N. meningitidis, H...
2017: PloS One
https://www.readbyqxmd.com/read/28346478/association-of-enos-and-cav-1-gene-polymorphisms-with-susceptibility-risk-of-large-artery-atherosclerotic-stroke
#2
Hann-Yeh Shyu, Ming-Hua Chen, Yi-Hsien Hsieh, Jia-Ching Shieh, Ling-Rong Yen, Hsiao-Wei Wang, Chun-Wen Cheng
Endothelial nitric oxide synthase (eNOS) is localized in caveole and has important effects on caveolar coordination through its interaction with caveolin-1 (Cav-1), which supports normal functioning of vascular endothelial cells. However, the relationship between genotypic polymorphisms of e-NOS and Cav-1 genes and ischemic stroke (IS) remains lesser reported. This hospital-based case-control study aimed to determine the genetic polymorphisms of the eNOS (Glu298Asp) and Cav-1 (G14713A and T29107A) genes in association with susceptibility risk in patients who had suffered from a large artery atherosclerotic (LAA) stroke...
2017: PloS One
https://www.readbyqxmd.com/read/28345798/multimetallic-and-mixed-environment-iridium-iii-complexes-a-modular-approach-to-luminescence-tuning-using-a-host-platform
#3
Victoria Pritchard, Diego Rota Martir, Eli Zysman-Colman, Michaele Jane Hardie
Mononuclear and trinuclear bis-cyclometalled Ir(III) complexes of the host ligands tris(4-[4'-methyl-2,2'-bipyridyl]methyl)cyclotriguaiacylene (L1) and tris(4-(4'-methyl-2,2'-bipyridyl)carboxy)cyclotriguaiacylene (L2) have been prepared. Complexes [{Ir(ppy)2}3(L1)](PF6)3 1.1, [{Ir(ppy)2}(L1)](PF6)3 1.2, [{Ir(ppy)2}3(L2)](PF6)3 2.1 and [{Ir(ppy)2}(L2)](PF6)3 2.2 (where ppy = phenylpyridinato) showed distinct photophysical properties according to L-ligand with L1 complexes comparatively blue-shifted in solution, with longer lifetimes and higher quantum yields...
March 27, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28344492/cyp2c9-cypc19-and-cyp2d6-gene-profiles-and-gene-susceptibility-to-drug-response-and-toxicity-in-turkish-population
#4
Merve Arici, Gül Özhan
Pharmacogenetics is a vast field covering drug discovery research, the genetic basis of pharmacokinetics and dynamics, genetic testing and clinical management in diseases. Pharmacogenetic approach usually focuses on variations of drug transporters, drug targets, drug metabolizing enzymes and other biomarker genes. Cytochrome P450 (CYP) enzymes, an essential source of variability in drug-response, play role in not only phase I-dependent metabolism of xenobiotics but also metabolism of endogenous compounds such as steroids, vitamins and fatty acids...
March 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#5
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28342798/allele-frequencies-and-other-forensic-parameters-of-the-hid-ion-ampliseq%C3%A2-identity-panel-markers-in-basques-using-the-ion-torrent-pgm%C3%A2-platform
#6
O García, A Soto, I Yurrebaso
The HID-Ion AmpliSeq™ Identity Panel amplifies 90 autosomal SNPs and 34 Y- SNPs with massively parallel sequencing (MPS) using the Ion Torrent PGM™ platform. In the present study, 105 Basques were analyzed to assess this panel. All loci were in Hardy-Weinberg equilibrium and no association between them was detected. Forensic parameters were calculated as 5.74×10(-36) for combined match probability and 99.99998% for combined power of exclusion. In conclusion, the HID Identity panel and the use of this new MPS technology are very promising tools for paternity testing and human identification in routine casework in the forensic field...
March 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28342005/genetic-polymorphisms-for-19-autosomal-str-loci-of-chongqing-han-ethnicity-and-phylogenetic-structure-exploration-among-28-chinese-populations
#7
Xing Zou, YongGuo Li, Ping Li, QianYun Nie, Ting Wang, Yue Hu, Ying Zhu, JianBo Li, RenKuan Tang
The allele frequencies and forensic statistical parameters of 19 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, THOl, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA, D6S1043, Penta D, Penta E, and D12S391) included in the Goldeneye™ DNA ID system 20A kit were obtained in 671 Chinese Han individuals residing in Chongqing, Southwest China. All 19 STR loci were identified in agreement with the Hardy-Weinberg equilibrium. A total of 238 alleles were observed with corresponding allele frequencies that varied from 0...
March 24, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28340580/toll-like-receptors-genes-polymorphisms-and-the-occurrence-of-hcmv-infection-among-pregnant-women
#8
Wioletta Wujcicka, Edyta Paradowska, Mirosława Studzińska, Jan Wilczyński, Dorota Nowakowska
BACKGROUND: Human cytomegalovirus (HCMV) is the most common cause of intrauterine infections worldwide. The toll-like receptors (TLRs) have been reported as important factors in immune response against HCMV. Particularly, TLR2, TLR4 and TLR9 have been shown to be involved in antiviral immunity. Evaluation of the role of single nucleotide polymorphisms (SNPs), located within TLR2, TLR4 and TLR9 genes, in the development of human cytomegalovirus (HCMV) infection in pregnant women and their fetuses and neonates, was performed...
March 24, 2017: Virology Journal
https://www.readbyqxmd.com/read/28340547/the-complexities-of-struggling-to-live-life
#9
Samereh Abdoli, Lynda R Hardy, Joanne Hall
Purpose The purpose of the study was to explore and describe perceptions and experiences of young adults with type 1 diabetes mellitus (T1DM) living in Appalachia, Tennessee. Methods Qualitative descriptive analysis of in-depth interviews of 9 young adults (male = 3, female = 6) 18 to 30 years of age living in Appalachian counties in Tennessee provided the basis of identifying the salient concerns from the perspective of this diverse group related to living daily with T1DM. Data analysis was facilitated by using NVivo 11 Pro and consisted of iterative review of the accounts in 3 phases: immersion, reduction, and interpretation...
April 2017: Diabetes Educator
https://www.readbyqxmd.com/read/28340403/micro-and-macrovascular-function-in-children-with-sickle-cell-anaemia-and-sickle-cell-haemoglobin-c-disease
#10
Berenike Möckesch, Keyne Charlot, Stéphane Jumet, Marc Romana, Lydia Divialle-Doumdo, Marie-Dominique Hardy-Dessources, Marie Petras, Benoît Tressieres, Vanessa Tarer, Olivier Hue, Maryse Etienne-Julan, Philippe Connes, Sophie Antoine-Jonville
It is unclear whether vascular function is affected similarly in children with sickle cell anaemia (SS) and children with sickle haemoglobin C (SC) disease. Therefore, we compared micro and macrovascular functions in healthy (AA) children, children with SS and SC disease, and assessed their association with physical activity. Participants (24 SS, 22 SC and 16 AA), were compared in terms of 1) thermal hyperaemic response (finger pad warming to 42°C) measured by Laser Doppler techniques, 2) arterial stiffness determined by pulse wave velocity, 3) daily energy expenditure related to moderate and intense physical activities estimated by questionnaire and 4) fitness level, evaluated by the six-minute walk test...
February 4, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28340265/association-of-runx2-and-tnfsf11-genes-with-production-traits-in-a-paternal-broiler-line
#11
N V Grupioni, N B Stafuzza, A B Carvajal, A M G Ibelli, J O Peixoto, M C Ledur, D P Munari
Intense selection for production traits has improved the genetic gain of important economic traits. However, selection for performance and carcass traits has led to the onset of locomotors problems and decreasing bone strength in broilers. Thus, genes associated with bone integrity traits have become candidates for genetic studies in order to reduce the impact of bone disorders in broilers. This study investigated the association of the RUNX2 and TNFSF11 genes with 79 traits related to performance, carcass composition, organs, and bone integrity in a paternal broiler line...
March 22, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28335826/first-establishment-of-microsatellite-markers-in-clausiliid-snails-mollusca-gastropoda-clausiliidae
#12
Katharina Jaksch, Luise Kruckenhauser, Elisabeth Haring, Zoltán Fehér
BACKGROUND: Clausiliidae (door snails) are gastropods with a very high diversity concerning shell morphology, especially of their complex closing apparatus, which provides the most important diagnostic traits for classification of taxa. Due to the high variability, a high number of taxa has been described, though their systematics and taxonomy is partially controversially discussed. Montenegrina is the second most speciose door snail genus in Europe. It is an obligate rock-dwelling land snail and has, compared to its complex systematics, a rather small distribution range in the western parts of the Balkan Peninsula...
March 23, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28334554/rapid-establishment-of-the-european-bank-for-induced-pluripotent-stem-cells-ebisc-the-hot-start-experience
#13
Paul A De Sousa, Rachel Steeg, Elisabeth Wachter, Kevin Bruce, Jason King, Marieke Hoeve, Shalinee Khadun, George McConnachie, Julie Holder, Andreas Kurtz, Stefanie Seltmann, Johannes Dewender, Sascha Reimann, Glyn Stacey, Orla O'Shea, Charlotte Chapman, Lyn Healy, Heiko Zimmermann, Bryan Bolton, Trisha Rawat, Isobel Atkin, Anna Veiga, Bernd Kuebler, Blanca Miranda Serano, Tomo Saric, Jürgen Hescheler, Oliver Brüstle, Michael Peitz, Cornelia Thiele, Niels Geijsen, Bjørn Holst, Christian Clausen, Majlinda Lako, Lyle Armstrong, Shailesh K Gupta, Alexander J Kvist, Ryan Hicks, Anna Jonebring, Gabriella Brolén, Andreas Ebneth, Alfredo Cabrera-Socorro, Patrik Foerch, Martine Geraerts, Tina C Stummann, Shawn Harmon, Carol George, Ian Streeter, Laura Clarke, Helen Parkinson, Peter W Harrison, Adam Faulconbridge, Luca Cherubin, Tony Burdett, Cesar Trigueros, Minal J Patel, Christa Lucas, Barry Hardy, Rok Predan, Joh Dokler, Maja Brajnik, Oliver Keminer, Ole Pless, Philip Gribbon, Carsten Claussen, Annette Ringwald, Beate Kreisel, Aidan Courtney, Timothy E Allsopp
A fast track "Hot Start" process was implemented to launch the European Bank for Induced Pluripotent Stem Cells (EBiSC) to provide early release of a range of established control and disease linked human induced pluripotent stem cell (hiPSC) lines. Established practice amongst consortium members was surveyed to arrive at harmonised and publically accessible Standard Operations Procedures (SOPs) for tissue procurement, bio-sample tracking, iPSC expansion, cryopreservation, qualification and distribution to the research community...
March 7, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28333499/are-applicants-more-likely-to-quit-longer-assessments-examining-the-effect-of-assessment-length-on-applicant-attrition-behavior
#14
Jay H Hardy, Carter Gibson, Matthew Sloan, Alison Carr
Conventional wisdom suggests that assessment length is positively related to the rate at which applicants opt out of the assessment phase. However, restricting assessment length can negatively impact the utility of a selection system by reducing the reliability of its construct scores and constraining coverage of the relevant criterion domain. Given the costly nature of these tradeoffs, is it better for managers to prioritize (a) shortening assessments to reduce applicant attrition rates or (b) ensuring optimal reliability and validity of their assessment scores? In the present study, we use data from 222,772 job-seekers nested within 69 selection systems to challenge the popular notion that selection system length predicts applicant attrition behavior...
March 23, 2017: Journal of Applied Psychology
https://www.readbyqxmd.com/read/28333384/transcriptional-regulation-of-adipogenesis
#15
Paula Mota de Sá, Allison J Richard, Hardy Hang, Jacqueline M Stephens
Adipocytes are the defining cell type of adipose tissue. Once considered a passive participant in energy storage, adipose tissue is now recognized as a dynamic organ that contributes to several important physiological processes, such as lipid metabolism, systemic energy homeostasis, and whole-body insulin sensitivity. Therefore, understanding the mechanisms involved in its development and function is of great importance. Adipocyte differentiation is a highly orchestrated process which can vary between different fat depots as well as between the sexes...
March 16, 2017: Comprehensive Physiology
https://www.readbyqxmd.com/read/28332774/changing-hpv-vaccination-rates-in-bisexual-and-lesbian-women
#16
Carolee Polek, Thomas Hardie
BACKGROUND: Human papillomavirus (HPV) vaccination rates continue to be below national targets for women and lower in some sexual minorities. HPV is a primary causal agent in cervical cancer, from which members of the lesbian and bisexual community mistakenly believe they are at low risk. This study characterized rates of HPV vaccination in women based on their sexual orientation. METHODS: Data were obtained from the Centers for Disease Control and Prevention's National Health Interview Survey 2013-2014...
March 23, 2017: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/28331852/effects-of-fmo3-polymorphisms-on-pharmacokinetics-of-sulindac-in-chinese-healthy-male-volunteers
#17
Yong-Jun Tang, Kai Hu, Wei-Hua Huang, Chong-Zhi Wang, Zhi Liu, Yao Chen, Dong-Sheng Ouyang, Zhi-Rong Tan, Hong-Hao Zhou, Chun-Su Yuan
Sulindac is a nonsteroidal anti-inflammatory drug, which is clinically used for the ailments of various inflammations. This study investigated the allele frequencies of FMO3 E158K and E308G and evaluated the influences of these two genetic polymorphisms on the pharmacokinetics of sulindac and its metabolites in Chinese healthy male volunteers. Eight FMO3 wild-type (FMO3 HHDD) subjects and seven FMO3 homozygotes E158K and E308G mutant (FMO3 hhdd) subjects were recruited from 247 healthy male volunteers genotyped by PCR-RFLP method...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28330970/variation-in-family-experience-of-pediatric-inpatient-care-as-measured-by-child-hcahps
#18
Sara L Toomey, Marc N Elliott, Alan M Zaslavsky, David J Klein, Sifon Ndon, Shannon Hardy, Melody Wu, Mark A Schuster
BACKGROUND: Making national comparisons of family experience of inpatient pediatric care has been limited by the lack of a publicly available survey. The Agency for Healthcare Research and Quality and Centers for Medicare & Medicaid Services commissioned development of the Child Hospital Consumer Assessment of Healthcare Providers and Systems Survey to address this gap. Using Child Hospital Consumer Assessment of Healthcare Providers and Systems Survey, we measured performance of hospitals in a national field test...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28330580/biochemical-and-clinical-profiles-of-52-tunisian-patients-affected-by-zellweger-syndrome
#19
Fahmi Nasrallah, Wiem Zidi, Moncef Feki, Samia Kacem, Neji Tebib, Naziha Kaabachi
BACKGROUND: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder. METHODS: A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study...
February 17, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28329159/concomitant-therapy-off-pump-coronary-revascularization-and-transcatheter-aortic-valve-implantation
#20
Samir Ahad, Kristina Wachter, Christian Rustenbach, Alina Stan, Stephan Hill, Tim Schäufele, Adrian Ursulescu, Ulrich F W Franke, Hardy Baumbach
OBJECTIVES: Significant coronary artery disease (CAD) is common among patients evaluated for transcatheter aortic valve implantation (TAVI). Only little data exist on outcome of patients undergoing concomitant off-pump coronary revascularization and TAVI. The goal of this study was to analyse the impact of concomitant off-pump revascularization on early clinical outcome and 2-year follow-up of patients undergoing TAVI. METHODS: A total of 70 patients with significant CAD and aortic valve stenosis were included between January 2011 and January 2016...
March 10, 2017: Interactive Cardiovascular and Thoracic Surgery
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