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Paul Young

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https://www.readbyqxmd.com/read/27913883/on-the-prevalence-of-constipation-and-fecal-incontinence-and-their-co-occurrence-in-the-netherlands
#1
Rob J Meinds, Maxime M van Meegdenburg, Monika Trzpis, Paul M A Broens
PURPOSE: Numerous studies have investigated the prevalence of constipation and fecal incontinence (FI) in the general population and, even though these disorders are known to co-occur, they were studied independently of each other. Our aim was to investigate the prevalence of constipation and FI, and their co-occurrence, in the general population in the Netherlands. METHODS: We studied a cross-section of the Dutch population (N = 1259). All respondents completed the Groningen Defecation & Fecal Continence checklist...
December 2, 2016: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/27912776/improving-stroke-prevention-therapy-for-patients-with-atrial-fibrillation-in-primary-care-protocol-for-a-pragmatic-cluster-randomized-trial
#2
Theresa M Lee, Noah M Ivers, Sacha Bhatia, Debra A Butt, Paul Dorian, Liisa Jaakkimainen, Kori Leblanc, Dan Legge, Dante Morra, Alissia Valentinis, Laura Wing, Jacqueline Young, Karen Tu
BACKGROUND: The prevalence of atrial fibrillation (AF) is growing as the population ages, and at least 15% of ischemic strokes are attributed to AF. However, many high-risk AF patients are not offered guideline-recommended stroke prevention therapy due to a variety of system, provider, and patient-level barriers. METHODS: We will conduct a pragmatic, cluster-randomized controlled trial randomizing primary care clinics to test a "toolkit" of quality improvement interventions in primary care...
December 3, 2016: Implementation Science: IS
https://www.readbyqxmd.com/read/27910703/co-calibration-of-two-self-reported-measures-of-adherence-to-antiretroviral-therapy
#3
Robin M Nance, J A Chris Delaney, Carol E Golin, Wendee M Wechsberg, Chinazo Cunningham, Frederick Altice, Katerina Christopoulos, Kevin Knight, Vu Quan, Michael S Gordon, Sandra Springer, Jeremy Young, Paul K Crane, Kenneth H Mayer, Michael J Mugavero, Carlos Del Rio, Richard A Kronmal, Heidi M Crane
Adherence to antiretroviral therapy (ART) is an important determinant of clinical success assessed in many HIV studies. Harmonizing adherence data from studies that use different measures is difficult without a co-calibration equation to convert between validated instruments. Our purpose was to co-calibrate two commonly used adherence measures: the AIDS Clinical Trials Group (ACTG) questionnaire and the Visual Analog Scale (VAS). We used robust linear regression to develop a co-calibration equation in a clinical care cohort...
December 2, 2016: AIDS Care
https://www.readbyqxmd.com/read/27909222/associations-between-environmental-factors-and-hospital-admissions-for-sickle-cell-disease
#4
Frédéric B Piel, Sanjay Tewari, Valentine Brousse, Antonis Analitis, Anna Font, Stephan Menzel, Subarna Chakravorty, Swee Lay Thein, Baba Inusa, Paul Telfer, Marianne de Montalembert, Gary W Fuller, Klea Katsouyanni, David C Rees
Sickle cell disease (SCD) is an increasing global health burden. This inherited disease is characterised by a remarkable phenotypic heterogeneity, which can only partly be explained by genetic factors. Environmental factors are likely to play an important role but studies of their impact on disease severity are limited and their results are often inconsistent. This study investigated associations between a range of environmental factors and hospital admissions of young patients with SCD in London and in Paris between 2008 and 2012...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27908689/pcsk9-genetic-variants-and-risk-of-type-2-diabetes-a-mendelian-randomisation-study
#5
Amand F Schmidt, Daniel I Swerdlow, Michael V Holmes, Riyaz S Patel, Zammy Fairhurst-Hunter, Donald M Lyall, Fernando Pires Hartwig, Bernardo Lessa Horta, Elina Hyppönen, Christine Power, Max Moldovan, Erik van Iperen, G Kees Hovingh, Ilja Demuth, Kristina Norman, Elisabeth Steinhagen-Thiessen, Juri Demuth, Lars Bertram, Tian Liu, Stefan Coassin, Johann Willeit, Stefan Kiechl, Karin Willeit, Dan Mason, John Wright, Richard Morris, Goya Wanamethee, Peter Whincup, Yoav Ben-Shlomo, Stela McLachlan, Jackie F Price, Mika Kivimaki, Catherine Welch, Adelaida Sanchez-Galvez, Pedro Marques-Vidal, Andrew Nicolaides, Andrie G Panayiotou, N Charlotte Onland-Moret, Yvonne T van der Schouw, Giuseppe Matullo, Giovanni Fiorito, Simonetta Guarrera, Carlotta Sacerdote, Nicholas J Wareham, Claudia Langenberg, Robert Scott, Jian'an Luan, Martin Bobak, Sofia Malyutina, Andrzej Pająk, Ruzena Kubinova, Abdonas Tamosiunas, Hynek Pikhart, Lise Lotte Nystrup Husemoen, Niels Grarup, Oluf Pedersen, Torben Hansen, Allan Linneberg, Kenneth Starup Simonsen, Jackie Cooper, Steve E Humphries, Murray Brilliant, Terrie Kitchner, Hakon Hakonarson, David S Carrell, Catherine A McCarty, H Lester Kirchner, Eric B Larson, David R Crosslin, Mariza de Andrade, Dan M Roden, Joshua C Denny, Cara Carty, Stephen Hancock, John Attia, Elizabeth Holliday, Martin O' Donnell, Salim Yusuf, Michael Chong, Guillaume Pare, Pim van der Harst, M Abdullah Said, Ruben N Eppinga, Niek Verweij, Harold Snieder, Tim Christen, Dennis O Mook-Kanamori, Stefan Gustafsson, Lars Lind, Erik Ingelsson, Raha Pazoki, Oscar Franco, Albert Hofman, Andre Uitterlinden, Abbas Dehghan, Alexander Teumer, Sebastian Baumeister, Marcus Dörr, Markus M Lerch, Uwe Völker, Henry Völzke, Joey Ward, Jill P Pell, Daniel J Smith, Tom Meade, Anke H Maitland-van der Zee, Ekaterina V Baranova, Robin Young, Ian Ford, Archie Campbell, Sandosh Padmanabhan, Michiel L Bots, Diederick E Grobbee, Philippe Froguel, Dorothée Thuillier, Beverley Balkau, Amélie Bonnefond, Bertrand Cariou, Melissa Smart, Yanchun Bao, Meena Kumari, Anubha Mahajan, Paul M Ridker, Daniel I Chasman, Alex P Reiner, Leslie A Lange, Marylyn D Ritchie, Folkert W Asselbergs, Juan-Pablo Casas, Brendan J Keating, David Preiss, Aroon D Hingorani, Naveed Sattar
BACKGROUND: Statin treatment and variants in the gene encoding HMG-CoA reductase are associated with reductions in both the concentration of LDL cholesterol and the risk of coronary heart disease, but also with modest hyperglycaemia, increased bodyweight, and modestly increased risk of type 2 diabetes, which in no way offsets their substantial benefits. We sought to investigate the associations of LDL cholesterol-lowering PCSK9 variants with type 2 diabetes and related biomarkers to gauge the likely effects of PCSK9 inhibitors on diabetes risk...
November 28, 2016: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/27904971/mutations-in-slc5a6-associated-with-brain-immune-bone-and-intestinal-dysfunction-in-a-young-child
#6
Veedamali S Subramanian, Alexandru R Constantinescu, Paul J Benke, Hamid M Said
The human sodium-dependent multivitamin transporter (hSMVT) is a product of the SLC5A6 gene and mediates biotin, pantothenic acid, and lipoate uptake in a variety of cellular systems. We report here the identification of mutations R94X, a premature termination, and R123L, a dysfunctional amino acid change, both in exon 3 of the SLC5A6 gene in a child using whole genome-scanning. At 15 months of age, the child showed failure to thrive, microcephaly and brain changes on MRI, cerebral palsy and developmental delay, variable immunodeficiency, and severe gastro-esophageal reflux requiring a gastrostomy tube/fundoplication, osteoporosis, and pathologic bone fractures...
November 30, 2016: Human Genetics
https://www.readbyqxmd.com/read/27900369/genomic-profiling-of-multiple-sequentially-acquired-tumor-metastatic-sites-from-an-exceptional-responder-lung-adenocarcinoma-patient-reveals-extensive-genomic-heterogeneity-and-novel-somatic-variants-driving-treatment-response
#7
Romi Biswas, Shaojian Gao, Constance M Cultraro, Tapan K Maity, Abhilash Venugopalan, Zied Abdullaev, Alexey K Shaytan, Corey A Carter, Anish Thomas, Arun Rajan, Young Song, Stephanie Pitts, Kevin Chen, Sara Bass, Joseph Boland, Ken-Ichi Hanada, Jinqiu Chen, Paul S Meltzer, Anna R Panchenko, James C Yang, Svetlana Pack, Giuseppe Giaccone, David S Schrump, Javed Khan, Udayan Guha
We used next-generation sequencing to identify somatic alterations in multiple metastatic sites from an "exceptional responder" lung adenocarcinoma patient during his 7-yr course of ERBB2-directed therapies. The degree of heterogeneity was unprecedented, with ∼1% similarity between somatic alterations of the lung and lymph nodes. One novel translocation, PLAG1-ACTA2, present in both sites, up-regulated ACTA2 expression. ERBB2, the predominant driver oncogene, was amplified in both sites, more pronounced in the lung, and harbored an L869R mutation in the lymph node...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27899635/interpro-in-2017-beyond-protein-family-and-domain-annotations
#8
Robert D Finn, Teresa K Attwood, Patricia C Babbitt, Alex Bateman, Peer Bork, Alan J Bridge, Hsin-Yu Chang, Zsuzsanna Dosztányi, Sara El-Gebali, Matthew Fraser, Julian Gough, David Haft, Gemma L Holliday, Hongzhan Huang, Xiaosong Huang, Ivica Letunic, Rodrigo Lopez, Shennan Lu, Aron Marchler-Bauer, Huaiyu Mi, Jaina Mistry, Darren A Natale, Marco Necci, Gift Nuka, Christine A Orengo, Youngmi Park, Sebastien Pesseat, Damiano Piovesan, Simon C Potter, Neil D Rawlings, Nicole Redaschi, Lorna Richardson, Catherine Rivoire, Amaia Sangrador-Vegas, Christian Sigrist, Ian Sillitoe, Ben Smithers, Silvano Squizzato, Granger Sutton, Narmada Thanki, Paul D Thomas, Silvio C E Tosatto, Cathy H Wu, Ioannis Xenarios, Lai-Su Yeh, Siew-Yit Young, Alex L Mitchell
InterPro (http://www.ebi.ac.uk/interpro/) is a freely available database used to classify protein sequences into families and to predict the presence of important domains and sites. InterProScan is the underlying software that allows both protein and nucleic acid sequences to be searched against InterPro's predictive models, which are provided by its member databases. Here, we report recent developments with InterPro and its associated software, including the addition of two new databases (SFLD and CDD), and the functionality to include residue-level annotation and prediction of intrinsic disorder...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27898501/off-label-use-of-amplatzer-duct-occluder-ii-additional-sizes
#9
Heba T Mahmoud, Giuseppe Santoro, Cristina Capogrosso, Maria G Russo
OBJECTIVE: To report our experience on novel, off-label use of Amplatzer Duct Occluder type II additional sizes (ADO II-AS) device (St. Jude Medical, Inc.; St. Paul, Minnesota, USA) to manage nonduct shunt lesions. METHODS AND RESULTS: Among the 114 patients submitted to ADO II-AS implantation at our institution, 12 received this device as off-label treatment of paravalvular leak (n = 5), sinus of Valsalva fissuration (n = 2), accessory atrial septal defect (n = 2), muscular ventricular septal defect (n = 1), bleeding bronchial artery aneurysm (n = 1) and reverse shunt due to abnormal origin of left subclavian artery from pulmonary artery (n = 1)...
November 24, 2016: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/27897192/pi3-kinase-inhibition-improves-vascular-malformations-in-mouse-models-of-hereditary-haemorrhagic-telangiectasia
#10
Roxana Ola, Alexandre Dubrac, Jinah Han, Feng Zhang, Jennifer S Fang, Bruno Larrivée, Monica Lee, Ana A Urarte, Jan R Kraehling, Gael Genet, Karen K Hirschi, William C Sessa, Francesc V Canals, Mariona Graupera, Minhong Yan, Lawrence H Young, Paul S Oh, Anne Eichmann
Activin receptor-like kinase 1 (ALK1) is an endothelial serine-threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27897080/do-perceptions-of-their-partners-childbearing-desires-affect-young-women-s-pregnancy-risk-further-study-of-ambivalence
#11
Warren B Miller, Jennifer S Barber, Paul Schulz
We explore whether young women's perceptions of their sexual partners' childbearing desires contribute to their risk of pregnancy. We used weekly journal data collected from 787 young women to measure their childbearing desires and their perceptions of their partners' childbearing desires. We then conducted hazard modelling to predict pregnancy risk with variables based on interactions between the women's desires and their perceived partners' desires. Models that include perceived partners' desires perform better than one based on women's desires alone...
November 29, 2016: Population Studies
https://www.readbyqxmd.com/read/27896285/rare-variants-in-optic-disc-area-gene-card10-enriched-in-primary-open-angle-glaucoma
#12
Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, Owen M Siggs, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Robert J Casson, John Landers, Richard Mills, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, Kathryn P Burdon, Jamie E Craig
BACKGROUND: Genome-wide association studies (GWAS) have identified association of common alleles with primary open-angle glaucoma (POAG) and its quantitative endophenotypes near numerous genes. This study aims to determine whether rare pathogenic variants in these disease-associated genes contribute to POAG. METHODS: Participants fulfilled strict inclusion criteria of advanced POAG at a young age of diagnosis. Myocilin mutation carriers were excluded using direct sequencing...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27895844/effect-of-human-rotavirus-vaccine-on-severe-diarrhea-in-african-infants
#13
Shabir A Madhi, Nigel A Cunliffe, Duncan Steele, Desirée Witte, Mari Kirsten, Cheryl Louw, Bagrey Ngwira, John C Victor, Paul H Gillard, Brigitte B Cheuvart, Htay H Han, Kathleen M Neuzil
BACKGROUND: Rotavirus is the most common cause of severe gastroenteritis among young children worldwide. Data are needed to assess the efficacy of the rotavirus vaccine in African children. METHODS: We conducted a randomized, placebo-controlled, multicenter trial in South Africa (3166 infants; 64.1% of the total) and Malawi (1773 infants; 35.9% of the total) to evaluate the efficacy of a live, oral rotavirus vaccine in preventing severe rotavirus gastroenteritis...
September 2016: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/27894453/usual-and-unusual-manifestations-of-familial-hemophagocytic-lymphohistiocytosis-and-langerhans-cell-histiocytosis
#14
REVIEW
Craig Erker, Paul Harker-Murray, Julie-An Talano
Familial hemophagocytic lymphohistiocytosis (FHL) and Langerhans cell histiocytosis (LCH) are histiocytic diseases that occur most commonly in young children. Improvements in recognition and treatment have been substantial for both diseases in the past decade, although early and late morbidity continue to be major concerns. These two diagnoses behave differently, although the clinical spectra for both diseases are diverse and can lead to confusion and delays in diagnosis and treatment. This article focuses on the clinical and genetic spectrum of FHL as well as the clinical and treatment variations of LCH...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27893475/leg-stiffness-in-female-soccer-players-inter-session-reliability-and-the-fatiguing-effects-of-soccer-specific-exercise
#15
Mark De Ste Croix, Jonathan Hughes, Rhodri S Lloyd, Jon L Oliver, Paul Read
Low levels of leg stiffness and reduced leg stiffness when fatigue is present compromise physical performance and increase injury risk. The purpose of this study was to (a) determine the reliability of leg stiffness measures obtained from contact mat data and (b) explore age-related differences in leg stiffness following exposure to a soccer-specific fatigue protocol in young female soccer players. 37 uninjured female youth soccer players divided into 3 sub-groups based on chronological age (U13, U15 and U17 year olds) volunteered to participate in the study...
November 16, 2016: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/27893018/effect-of-%C3%AF-3-polyunsaturated-fatty-acids-in-young-people-at-ultrahigh-risk-for-psychotic-disorders-the-neurapro-randomized-clinical-trial
#16
Patrick D McGorry, Barnaby Nelson, Connie Markulev, Hok Pan Yuen, Miriam R Schäfer, Nilufar Mossaheb, Monika Schlögelhofer, Stephan Smesny, Ian B Hickie, Gregor Emanuel Berger, Eric Y H Chen, Lieuwe de Haan, Dorien H Nieman, Merete Nordentoft, Anita Riecher-Rössler, Swapna Verma, Andrew Thompson, Alison Ruth Yung, G Paul Amminger
Importance: A promising treatment to prevent onset and improve outcomes in patients at ultrahigh risk for psychosis is dietary supplementation with long-chain ω-3 polyunsaturated fatty acids (PUFAs). Objective: To determine whether treatment with ω-3 PUFAs in combination with a high-quality psychosocial intervention (cognitive behavioral case management [CBCM]) is more effective than placebo plus CBCM. Design, Setting, and Participants: NEURAPRO, a double-blind, placebo-controlled, randomized clinical trial, was conducted from March 1, 2010, to September 30, 2014, in 10 specialized early psychosis treatment services in Australia, Asia, and Europe...
November 23, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27892853/structure-of-the-germline-genome-of-tetrahymenathermophila-and-relationship-to-the-massively-rearranged-somatic-genome
#17
Eileen P Hamilton, Aurélie Kapusta, Piroska E Huvos, Shelby L Bidwell, Nikhat Zafar, Haibao Tang, Michalis Hadjithomas, Vivek Krishnakumar, Jonathan H Badger, Elisabet V Caler, Carsten Russ, Qiandong Zeng, Lin Fan, Joshua Z Levin, Terrance Shea, Sarah K Young, Ryan Hegarty, Riza Daza, Sharvari Gujja, Jennifer R Wortman, Bruce W Birren, Chad Nusbaum, Jainy Thomas, Clayton M Carey, Ellen J Pritham, Cédric Feschotte, Tomoko Noto, Kazufumi Mochizuki, Romeo Papazyan, Sean D Taverna, Paul H Dear, Donna M Cassidy-Hanley, Jie Xiong, Wei Miao, Eduardo Orias, Robert S Coyne
The germline genome of the binucleated ciliate Tetrahymenathermophila undergoes programmed chromosome breakage and massive DNA elimination to generate the somatic genome. Here we present a complete sequence assembly of the germline genome and analyze multiple features of its structure and its relationship to the somatic genome, shedding light on the mechanisms of genome rearrangement as well as the evolutionary history of this remarkable germline/soma differentiation. Our results strengthen the notion that a complex, dynamic, and ongoing interplay between mobile DNA elements and the host genome have shaped Tetrahymena chromosome structure, locally and globally...
November 28, 2016: ELife
https://www.readbyqxmd.com/read/27892826/assessing-factors-associated-with-hiv-testing-among-adolescents-in-malawi
#18
Paul Mkandawire
Despite being at high risk of HIV/AIDS, most young people do not know their HIV status. Using survey data (n = 2428) and applying multilevel models, this paper assesses factors associated with HIV testing among adolescents in Northern Malawi. The results show that among both boys (OR = 0.39) and girls (OR = 0.47), orphan status is associated with low likelihood of HIV testing. Correct knowledge about HIV/AIDS (OR = 2.55) and having secondary education (OR = 3.24) are associated with HIV testing among boys and girls, respectively...
November 28, 2016: Global Public Health
https://www.readbyqxmd.com/read/27889896/decreased-anxiety-related-behaviour-but-apparently-unperturbed-numb-function-in-ligand-of-numb-protein-x-lnx-1-2-double-knockout-mice
#19
Joan A Lenihan, Orthis Saha, Victoria Heimer-McGinn, John F Cryan, Guoping Feng, Paul W Young
NUMB is a key regulator of neurogenesis and neuronal differentiation that can be ubiquitinated and targeted for proteasomal degradation by ligand of numb protein-X (LNX) family E3 ubiquitin ligases. However, our understanding of LNX protein function in vivo is very limited. To examine the role of LNX proteins in regulating NUMB function in vivo, we generated mice lacking both LNX1 and LNX2 expression in the brain. Surprisingly, these mice are healthy, exhibit unaltered levels of NUMB protein and do not display any neuroanatomical defects indicative of aberrant NUMB function...
November 26, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27889466/lower-cortisol-level-in-response-to-a-psychosocial-stressor-in-young-females-with-self-harm
#20
Paul L Plener, Katrin Zohsel, Erika Hohm, Arlette F Buchmann, T Banaschewski, Ulrich S Zimmermann, Manfred Laucht
BACKGROUND: Self-harm is highly prevalent in adolescence, often serving an emotion regulation function. Social stressors such as bullying are associated with self-harm. The neurobiological background of the relationship between social stressors and self-harm needs to be further understood to inform prevention and therapy. METHODS: Participants were members of an epidemiological cohort study. 130 female participants underwent the Trier Social Stress Test (TSST) at age 19...
November 14, 2016: Psychoneuroendocrinology
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