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https://www.readbyqxmd.com/read/28650383/incomplete-viral-suppression-and-mortality-in-hiv-patients-after-antiretroviral-therapy-initiation
#1
Jennifer S Lee, Stephen R Cole, David B Richardson, Dirk P Dittmer, William C Miller, Richard D Moore, Mari Kitahata, Christopher Mathews, Kenneth Mayer, Elvin Geng, Chad J Achenbach, Joseph J Eron
OBJECTIVE: To determine whether there is a threshold of detectable HIV RNA under 1,000 copies/mL after antiretroviral therapy initiation associated with 10-year all-cause mortality. DESIGN: This study included nearly 8,000 patients from a US-based multicenter clinical cohort who started antiretroviral therapy between 1 January 1998 and 31 December 2013. Viral load was assessed six months after initiation of therapy. Patients were followed from six months after therapy initiation (between 1 July 1998 and 30 June 2014) until death, and data were administratively censored after 10 years or on 31 December 2014...
June 23, 2017: AIDS
https://www.readbyqxmd.com/read/28649644/constitutional-variants-are-not-associated-with-her2-positive-breast-cancer-results-from-the-signal-phare-clinical-cohort
#2
Xavier Pivot, Gilles Romieu, Pierre Fumoleau, Maria Rios, Hervé Bonnefoi, Thomas Bachelot, Patrick Soulié, Christelle Jouannaud, Hugues Bourgeois, Thierry Petit, Isabelle Tennevet, David Assouline, Marie-Christine Mathieu, Jean-Philippe Jacquin, Sandrine Lavau-Denes, Ariane Darut-Jouve, Jean-Marc Ferrero, Carole Tarpin, Christelle Lévy, Valérie Delecroix, Véronique Trillet-Lenoir, Oana Cojocarasu, Jérôme Meunier, Jean-Yves Pierga, Cécile Agostini, Pierre Kerbrat, Céline Faure-Mercier, Hélène Blanché, Mourad Sahbatou, Anne Boland, Delphine Bacq, Céline Besse, Fabien Calvo, Alexia Renaud, Jean-François Deleuze, Iris Pauporté, Gilles Thomas, David G Cox
Human epidermal growth factor receptor 2-positive breast cancer is a subtype of interest regarding its outcome and the impressive impact of human epidermal growth factor receptor 2 targeted therapy. Constitutional variants may be involved in the aetiology of human epidermal growth factor receptor 2-positive breast cancer, and we propose a case-case study to test the hypothesis that single nucleotide polymorphisms may be associated with human epidermal growth factor receptor 2 status. A Genome-Wide Association Study was used in a cohort of 9836 patients from the SIGNAL/PHARE study (NCT00381901-RECF1098)...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28648734/drug-induced-hemolytic-anemia-pharmacological-aspects
#3
D Renard, A Rosselet
Drug-induced hemolytic anemia is a very rare but potentially lethal adverse drug reaction, which can take the form of oxidative damage to vulnerable erythrocytes (as in glucose-6-phosphate dehydrogenase deficiency), drug-induced thrombotic microangiopathy, or immune-mediated hemolytic anemia. For each form, distinctive drugs are documented as potential triggers. When a formal diagnosis of hemolytic anemia is made following drug administration, a structured approach is recommended to assess the plausibility of an adverse drug reaction based on chronological sequence, epidemiological data, objective evidence (when available), and ruling out of non-drug causes...
June 22, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28645331/circadian-clock-gene-polymorphisms-in-relation-to-sleep-patterns-and-obesity-in-african-americans-findings-from-the-jackson-heart-study
#4
Pia Riestra, Samson Y Gebreab, Ruihua Xu, Rumana J Khan, Amadou Gaye, Adolfo Correa, Nancy Min, Mario Sims, Sharon K Davis
BACKGROUND: Circadian rhythms regulate key biological processes and the dysregulation of the intrinsic clock mechanism affects sleep patterns and obesity onset. The CLOCK (circadian locomotor output cycles protein kaput) gene encodes a core transcription factor of the molecular circadian clock influencing diverse metabolic pathways, including glucose and lipid homeostasis. The primary objective of this study was to evaluate the associations between CLOCK single nucleotide polymorphisms (SNPs) and body mass index (BMI)...
June 23, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28642364/the-accuracy-and-bias-of-single-step-genomic-prediction-for-populations-under-selection
#5
Wan-Ling Hsu, Dorian J Garrick, Rohan Luigi Fernando
In single-step analyses, missing genotypes are explicitly or implicitly imputed, and this requires centering the observed genotypes, using the means of the unselected founders. If genotypes are only available on selected individuals, centering on the unselected founder mean is not straightforward. Here, computer simulation is used to study an alternative analysis that does not require centering genotypes but fits the mean μg of unselected individuals as a fixed effect. Centering the entire matrix of observed and imputed genotypes using their sample means can be done to improve numerical properties of the analysis, in addition to fitting μg...
June 22, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28641744/polygenic-risk-score-and-heritability-estimates-reveals-a-genetic-relationship-between-asd-and-ocd
#6
W Guo, J F Samuels, Y Wang, H Cao, M Ritter, P S Nestadt, J Krasnow, B D Greenberg, A J Fyer, J T McCracken, D A Geller, D L Murphy, J A Knowles, M A Grados, M A Riddle, S A Rasmussen, N C McLaughlin, E L Nurmi, K D Askland, B A Cullen, J Piacentini, D L Pauls, O J Bienvenu, S E Stewart, F S Goes, B Maher, A E Pulver, D Valle, M Mattheisen, J Qian, G Nestadt, Y Y Shugart
Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions...
July 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28640818/ankylosing-spondylitis-patients-at-risk-of-poor-radiographic-outcome-show-diminishing-spinal-radiographic-progression-during-long-term-treatment-with-tnf-%C3%AE-inhibitors
#7
Fiona Maas, Suzanne Arends, Freke R Wink, Reinhard Bos, Hendrika Bootsma, Elisabeth Brouwer, Anneke Spoorenberg
OBJECTIVE: To investigate the influence of patient characteristics on the course of spinal radiographic progression in a large prospective longitudinal cohort study of ankylosing spondylitis (AS) patients treated long-term with TNF-α inhibitors. METHODS: Consecutive patients from the Groningen Leeuwarden AS (GLAS) cohort starting TNF-α inhibitors with spinal radiographs at least available at baseline and 6 years of follow-up were included. Radiographs were scored using mSASSS by two independent readers...
2017: PloS One
https://www.readbyqxmd.com/read/28637535/routine-hospital-management-of-self-harm-and-risk-of-further-self-harm-propensity-score-analysis-using-record-based-cohort-data
#8
S Steeg, R Emsley, M Carr, J Cooper, N Kapur
BACKGROUND: The care received by people presenting to hospital following self-harm varies and it is unclear how different types of treatment affect risk of further self-harm. METHOD: Observational cohort data from the Manchester Self-Harm Project, UK, included 16 456 individuals presenting to an Emergency Department with self-harm between 2003 and 2011. Individuals were followed up for 12 months. We also used data from a smaller cohort of individuals presenting to 31 hospitals in England during a 3-month period in 2010/2011, followed up for 6 months...
June 22, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28637337/matrix-completion-with-side-information-and-its-applications-in-predicting-the-antigenicity-of-influenza-viruses
#9
Li Huang, Xianhong Li, Pengfei Guo, Yuhua Yao, Bo Liao, Weiwei Zhang, Fayou Wang, Jiasheng Yang, Yulong Zhao, Hailiang Sun, Pingan He, Jialiang Yang
Motivation: Low-rank matrix completion has been demonstrated to be powerful in predicting antigenic distances among influenza viruses and vaccines from partially revealed hemagglutination inhibition (HI) table. Meanwhile, influenza hemagglutinin (HA) protein sequences are also effective in inferring antigenic distances. Thus, it is natural to integrate HA protein sequence information into low-rank matrix completion model to help infer influenza antigenicity, which is critical to influenza vaccine development...
June 16, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28634199/characterising-cis-regulatory-variation-in-the-transcriptome-of-histologically-normal-and-tumour-derived-pancreatic-tissues
#10
Mingfeng Zhang, Soren Lykke-Andersen, Bin Zhu, Wenming Xiao, Jason W Hoskins, Xijun Zhang, Lauren M Rost, Irene Collins, Martijn van de Bunt, Jinping Jia, Hemang Parikh, Tongwu Zhang, Lei Song, Ashley Jermusyk, Charles C Chung, Bin Zhu, Weiyin Zhou, Gail L Matters, Robert C Kurtz, Meredith Yeager, Torben Heick Jensen, Kevin M Brown, Halit Ongen, William R Bamlet, Bradley A Murray, Mark I McCarthy, Stephen J Chanock, Nilanjan Chatterjee, Brian M Wolpin, Jill P Smith, Sara H Olson, Gloria M Petersen, Jianxin Shi, Laufey Amundadottir
OBJECTIVE: To elucidate the genetic architecture of gene expression in pancreatic tissues. DESIGN: We performed expression quantitative trait locus (eQTL) analysis in histologically normal pancreatic tissue samples (n=95) using RNA sequencing and the corresponding 1000 genomes imputed germline genotypes. Data from pancreatic tumour-derived tissue samples (n=115) from The Cancer Genome Atlas were included for comparison. RESULTS: We identified 38 615 cis-eQTLs (in 484 genes) in histologically normal tissues and 39 713 cis-eQTL (in 237 genes) in tumour-derived tissues (false discovery rate <0...
June 20, 2017: Gut
https://www.readbyqxmd.com/read/28633404/agreement-between-35-published-frailty-scores-in-the-general-population
#11
Gloria A Aguayo, Anne-Françoise Donneau, Michel T Vaillant, Anna Schritz, Oscar H Franco, Saverio Stranges, Laurent Malisoux, Michèle Guillaume, Daniel R Witte
In elderly populations, frailty is associated with higher mortality risk. Although many frailty scores (FS) have been proposed, no single score is considered the gold standard. We aimed to evaluate the agreement between a wide range of FS in the English Longitudinal Study of Ageing (ELSA). Through a literature search, we identified 35 FS that could be calculated in ELSA wave 2 (2004-2005). We examined agreement between each frailty score and the mean of 35 FS, using a modified Bland-Altman model and Cohen's kappa (κ)...
June 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28631894/serpini1-pathogenic-variants-an-emerging-cause-of-childhood-onset-progressive-myoclonic-epilepsy
#12
Emmanuelle Ranza, Stephanie Garcia-Tarodo, Konstantinos Varvagiannis, Michel Guipponi, Johannes A Lobrinus, Armand Bottani, Ilse Kern, Mary Kurian, Marie-Pascale Pittet, Stylianos E Antonarakis, Joel Fluss, Christian M Korff
Progressive myoclonic epilepsies are rare neurodegenerative diseases with a wide spectrum of clinical presentations and genetic heterogeneity that render their diagnosis perplexing. Discovering new imputable genes has been an ongoing process in recent years. We present two pediatric cases of progressive myoclonic epilepsy with SERPINI1 pathogenic variants that lead to a severe presentation; we highlight the importance of including this gene, previously known as causing an adult-onset dementia-epilepsy syndrome, in the genetic work-up of childhood-onset progressive myoclonic epilepsies...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28631331/missing-data-in-clinical-trials-control-based-mean-imputation-and-sensitivity-analysis
#13
Devan V Mehrotra, Fang Liu, Thomas Permutt
In some randomized (drug versus placebo) clinical trials, the estimand of interest is the between-treatment difference in population means of a clinical endpoint that is free from the confounding effects of "rescue" medication (e.g., HbA1c change from baseline at 24 weeks that would be observed without rescue medication regardless of whether or when the assigned treatment was discontinued). In such settings, a missing data problem arises if some patients prematurely discontinue from the trial or initiate rescue medication while in the trial, the latter necessitating the discarding of post-rescue data...
June 20, 2017: Pharmaceutical Statistics
https://www.readbyqxmd.com/read/28630058/psychological-morbidity-and-return-to-work-after-injury-multicentre-cohort-study
#14
Denise Kendrick, Paula Dhiman, Blerina Kellezi, Carol Coupland, Jessica Whitehead, Kate Beckett, Nicola Christie, Judith Sleney, Jo Barnes, Stephen Joseph, Richard Morriss
BACKGROUND: The benefits of work for physical, psychological, and financial wellbeing are well documented. Return to work (RTW) after unintentional injury is often delayed, and psychological morbidity may contribute to this delay. The impact of psychological morbidity on RTW after a wide range of unintentional injuries in the UK has not been adequately quantified. AIM: To quantify the role of psychological factors, including anxiety, depression, and post-traumatic distress, on RTW following unintentional injuries...
June 19, 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28629446/increasing-mapping-precision-of-genome-wide-association-studies-to-genotype-and-impute-sequence-or-both
#15
Zhaoming Wang, Nilanjan Chatterjee
Fine-mapping to identify causal variants in genome-wide association studies remains challenging. A recent study provides guidance for future research.
June 19, 2017: Genome Biology
https://www.readbyqxmd.com/read/28626070/potential-susceptibility-loci-identified-for-renal-cell-carcinoma-by-targeting-obesity-related-genes
#16
Xiang Shu, Mark P Purdue, Yuanqing Ye, Huakang Tu, Christopher G Wood, Nizar M Tannir, Zhaoming Wang, Demetrius Albanes, Susan M Gapstur, Victoria L Stevens, Nathaniel Rothman, Stephen J Chanock, Xifeng Wu
BACKGROUND: Obesity is an established risk factor for renal cell carcinoma (RCC). Although genome-wide association studies (GWAS) of RCC have identified several susceptibility loci, additional variants might be missed due to the highly conservative selection. METHODS: We conducted a multiphase study utilizing three independent genome-wide scans at MD Anderson Cancer Center (MDA RCC GWAS and MDA RCC OncoArray) and National Cancer Institute (NCI RCC GWAS), which consisted of a total of 3,530 cases and 5,714 controls, to investigate genetic variations in obesity-related genes and RCC risk...
June 16, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28625267/-application-of-quality-control-chart-in-quality-control-for-nosocomial-infection-in-intensive-care-unit
#17
Yumei Cheng, Yuanyi Liu, Difen Wang
OBJECTIVE: To explore the application value of control chart in the management of nosocomial infection in intensive care unit (ICU) by using quality control chart to monitor the infections in ICU. METHODS: From October 2011 to June 2016, ventilator-associated pneumonia (VAP), central line-associated bloodstream infection (CLABSI) and catheter-associated urinary tract infection (CAUTI), namely the three catheters, occurred in ICU of the Affiliated Hospital of Guizhou Medical University were monitored and recorded monthly, then the data was imput into the Excel, and the data was analyzed using SPSS...
February 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28625145/clomiphene-for-the-treatment-of-male-infertility-a-case-report-of-mood-change
#18
Marine Aussedat, Jennifer Jean-Louis, Orchidée Djahangirian, Marie-Sophie Brochet
BACKGROUND: Clomiphene is normally used in women with ovulatory dysfunction. In men, it is used off label in some cases of infertility. Psychological adverse effects are reported in women but very few in men. CASE: A 34 year-old man treated with clomiphene for oligoteratospermia presented anxiety, decreased appetite, and depressed mood making him unable to function properly at work, five days after initiation of therapy. Symptoms required reduction followed by discontinuation of treatment four days later because of absence of improvement...
June 15, 2017: Current Drug Safety
https://www.readbyqxmd.com/read/28624401/the-external-validity-of-prediction-models-for-the-diagnosis-of-obstructive-coronary-artery-disease-in-patients-with-stable-chest-pain-insights-from-the-promise-trial
#19
Tessa S S Genders, Adrian Coles, Udo Hoffmann, Manesh R Patel, Daniel B Mark, Kerry L Lee, Ewout W Steyerberg, M G Myriam Hunink, Pamela S Douglas
OBJECTIVES: This study sought to externally validate prediction models for the presence of obstructive coronary artery disease (CAD). BACKGROUND: A better assessment of the probability of CAD may improve the identification of patients who benefit from noninvasive testing. METHODS: Stable chest pain patients from the PROMISE (Prospective Multicenter Imaging Study for Evaluation of Chest Pain) trial with computed tomography angiography (CTA) or invasive coronary angiography (ICA) were included...
June 9, 2017: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28624294/patient-decision-aids-for-patients-considering-total-joint-replacement-a-cost-effectiveness-analysis-alongside-a-randomised-controlled-trial-rct
#20
L Trenaman, D Stacey, S Bryan, M Taljaard, G Hawker, G Dervin, P Tugwell, N Bansback
BACKGROUND: Shared decision-making (SDM) is a key priority to improve patient-centred care, and can play an important role in helping patients decide whether to undergo total joint arthroplasty (TJA). Patient decision aids can support SDM; however, they may incur an upfront cost. We aimed to estimate the health and economic effects of patient decision aids for TJA. METHODS: A cost-effectiveness analysis of a randomised controlled trial (RCT) with 2-year follow-up...
June 15, 2017: Osteoarthritis and Cartilage
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