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https://www.readbyqxmd.com/read/30517966/ubtf-mutation-causes-complex-phenotype-of-neurodegeneration-and-severe-epilepsy-in-childhood
#1
Lucie Sedláčková, Petra Laššuthová, Katalin Štěrbová, Jana Haberlová, Emílie Vyhnálková, Jana Neupauerová, David Staněk, Marie Šedivá, Pavel Kršek, Pavel Seeman
INTRODUCTION:  Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. METHODS AND RESULTS:  Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p...
December 5, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30517889/diabetes-sleep-treatment-trial-premise-design-and-methodology
#2
Eileen R Chasens, Charles W Atwood, Lora E Burke, Mary Korytkowski, Robert Stansbury, Patrick J Strollo, Susan M Sereika
The Diabetes Sleep Treatment Trial (DSTT) is a multi-site, double-blinded, randomized, sham-controlled trial. The study objective is to test whether treatment of obstructive sleep apnea (OSA) with continuous positive airway pressure (CPAP) treatment results in improved glycemic control and diabetes self-management behavior compared to participants on a sham-CPAP (sub-therapeutic) device in participants with type 2 diabetes mellitus (T2DM) and co-morbid OSA. The purpose of this paper is to describe the premise for the DSTT, the study design, and the methodology used in this on-going trial...
December 2, 2018: Contemporary Clinical Trials
https://www.readbyqxmd.com/read/30517754/molecular-basis-for-the-differential-interaction-of-plant-mitochondrial-vdac-proteins-with-trnas
#3
Thalia Salinas, Samira El Farouk-Ameqrane, Elodie Ubrig, Claude Sauter, Anne-Marie Duchêne, Laurence Maréchal-Drouard
No abstract text is available yet for this article.
December 5, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/30517746/long-term-outcome-in-heart-failure-patients-treated-with-levothyroxine-an-observational-nationwide-cohort-study
#4
Mette Nygaard Einfeldt, Anne-Marie Schjerning Olsen, Søren Lund Kristensen, Usman Khalid, Jens Faber, Christian Torp-Pedersen, Gunnar H Gislason, Christian Selmer
Context: Hypothyroidism has detrimental effects on the cardiovascular system, but controversy remains concerning the benefits of levothyroxine (L-T4) substitution in patients with heart failure (HF). Objective: Examining the effects of L-T4 in patients with HF. Design: Retrospective cohort study. Setting and Participants: All Danish citizens aged ≥ 18 years diagnosed with HF between 1997 and 2012. L-T4 treatment was identified from nationwide registers...
December 4, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/30517743/a-protein-shuttle-system-to-target-rna-into-mitochondria
#5
François Sieber, Antonio Placido, Samira El Farouk-Ameqrane, Anne-Marie Duchêne, Laurence Maréchal-Drouard
No abstract text is available yet for this article.
December 5, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/30517737/comprehensive-study-of-the-clinical-phenotype-of-germline-bap1-variant-carrying-families-worldwide
#6
Sebastian Walpole, Antonia L Pritchard, Colleen M Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa-Lyonnet, Erin Garfield, Ching-Ni Njauw, Mitchell Cheung, Joni A Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J Jager, Gregorius P M Luyten, Marina Marinkovic, Cindy Chau, Miriam Potrony, Veronica Höiom, Hildur Helgadottir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R Speicher, Natasha van Poppelen, Emine Kilic, Rana'a T Al-Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J O'Shea, Julia Newton-Bishop, Julian Adlard, David J Adams, Anne-Marie Lane, Ivana Kim, Sonja Klebe, Hilary Racher, J William Harbour, Michael L Nickerson, Rajmohan Murali, Jane M Palmer, Madeleine Howlie, Judith Symmons, Hayley Hamilton, Sunil Warrier, William Glasson, Peter Johansson, Carla Daniela Robles-Espinoza, Raul Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero T Kivelä, Hensin Tsao, Joseph R Testa, Pedram Gerami, Marc-Henri Stern, Brigitte Bressac-de Paillerets, Mohamed H Abdel-Rahman, Nicholas K Hayward
Background: The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a hereditary tumor syndrome caused by germline pathogenic variants in BAP1 encoding a tumor suppressor associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and cutaneous BAP1-inactivated melanocytic tumors. However, the full spectrum of tumors associated with the syndrome is yet to be determined. Improved understanding of the BAP1-TPDS is crucial for appropriate clinical management of BAP1 germline variant carriers and their families, including genetic counseling and surveillance for new tumors...
December 4, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/30517720/longitudinal-associations-of-childhood-bedtime-and-sleep-routines-with-adolescent-body-mass-index
#7
Soomi Lee, Lauren Hale, Anne-Marie Chang, Nicole G Nahmod, Lindsay Master, Lawrence M Berger, Orfeu M Buxton
Study Objectives: Having a regular, age-appropriate bedtime and sufficient sleep from early childhood may be important for healthy weight in adolescence. This study aimed to (1) identify heterogeneous groups of children by bedtime and sleep routines and (2) test longitudinal associations of childhood bedtime and sleep routine groups with adolescent body mass index (BMI). Methods: We analyzed longitudinal data from the Fragile Families and Child Wellbeing Study, a national birth cohort from 20 US cities (N = 2196)...
December 4, 2018: Sleep
https://www.readbyqxmd.com/read/30517716/severe-gastrointestinal-disease-in-very-early-systemic-sclerosis-is-associated-with-early-mortality
#8
Nicolas Richard, Marie Hudson, Mianbo Wang, Geneviève Gyger, Susanna Proudman, Wendy Stevens, Mandana Nikpour, Murray Baron
Objectives: To examine the incidence, predictors and outcomes associated with severe gastrointestinal (GI) disease in a large inception SSc cohort. Methods: SSc subjects with <2 years of disease duration were identified from two multicentre cohorts. Severe GI disease was defined as: malabsorption, hyperalimentation, pseudo-obstruction and/or ⩾10% weight loss in association with the use of antibiotics for bacterial overgrowth or oesophageal stricture. Kaplan-Meier, multivariate logistic regression and Cox proportional hazard analyses were performed to determine the cumulative incidence rate, independent clinical correlates and mortality rate associated with severe GI disease...
December 4, 2018: Rheumatology
https://www.readbyqxmd.com/read/30517688/errors-in-estimating-usual-sodium-intake-by-the-kawasaki-formula-alter-its-relationship-with-mortality-implications-for-public-health
#9
Feng J He, Norm R C Campbell, Yuan Ma, Graham A MacGregor, Mary E Cogswell, Nancy R Cook
Background: Several cohort studies with inaccurate estimates of sodium reported a J-shaped relationship with mortality. We compared various estimated sodium intakes with that measured by the gold-standard method of multiple non-consecutive 24-h urine collections and assessed their relationship with mortality. Methods: We analysed the Trials of Hypertension Prevention follow-up data. Sodium intake was assessed in four ways: (i) average measured (gold standard): mean of three to seven 24-h urinary sodium measurements during the trial periods; (ii) average estimated: mean of three to seven estimated 24-h urinary sodium excretions from sodium concentration of 24-h urine using the Kawasaki formula; (iii) first measured: 24-h urinary sodium measured at the beginning of each trial; (iv) first estimated: 24-h urinary sodium estimated from sodium concentration of the first 24-h urine using the Kawasaki formula...
December 1, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/30517628/the-aging-of-a-young-nation-population-aging-in-singapore
#10
Rahul Malhotra, Mary Ann C Bautista, Andre Matthias Müller, Su Aw, Gerald Choon Huat Koh, Yin-Leng Theng, Stephen James Hoskins, Chek Hooi Wong, Chunyan Miao, Wee-Shiong Lim, Chetna Malhotra, Angelique Chan
The juxtaposition of a young city-state showing relative maturity as a rapidly aging society suffuses the population aging narrative in Singapore and places the "little red dot" on the spotlight of international aging. We first describe population aging in Singapore, including the characteristic events that shaped this demographic transition. We then detail the health care and socioeconomic ramifications of the rapid and significant shift to an aging society, followed by an overview of the main aging research areas in Singapore, including selected population-based data sets and the main thrust of leading aging research centers/institutes...
December 4, 2018: Gerontologist
https://www.readbyqxmd.com/read/30517392/violence-against-women-historical-trajectory-of-a-care-program-curitiba-1997-2014
#11
Terezinha Maria Mafioletti, Aida Maris Peres, Liliana Muller Larocca, Mariana Purcote Fontoura
OBJECTIVE: To analyze the historical trajectory and the contributions of the Programa de Atenção às Mulheres em Situação de Violência (Program of Care to Women Victims of Violence) of Curitiba. METHOD: Research with documentary and local approach, inspired by the Dimension of Political History, to unveil power relations, political representations, symbols and discourses. Eighty-eight sources were used for the period 1997-2014. The data collection was performed in May 2016 and presented in the timeline modality...
November 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/30517387/the-body-marked-by-the-arteriovenous-fistula-a-phenomenological-point-of-view
#12
Dejanilton Melo da Silva, Rose Mary Costa Rosa Andrade Silva, Eliane Ramos Pereira, Helen Campos Ferreira, Vanessa Carine Gil de Alcantara, Fabiana da Silva Oliveira
OBJECTIVE: To understand the experience of people with chronic kidney disease using arteriovenous fistula. METHOD: Qualitative and exploratory study based on Social Phenomenology, conducted on 30 adults undergoing hemodialysis by using the fistula, interviewed in 2017. The interviews were analyzed according to the empirical-comprehensive model proposed by Amedeo Giorgi. RESULTS: We found the categories "The changed body aesthetics"; "The perception of the other about my body"; and "The fistula as an inseparable condition for life maintenance...
November 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/30517193/patient-and-provider-perceptions-of-a-comprehensive-care-program-for-hiv-positive-adults-over-50-years-of-age-the-formation-of-the-golden-compass-hiv-and-aging-care-program-in-san-francisco
#13
Meredith L Greene, Judy Y Tan, Sheri D Weiser, Katerina Christopoulos, Mary Shiels, Allison O'Hollaren, Eva Mureithi, Loren Meissner, Diane Havlir, Monica Gandhi
OBJECTIVE: People living with HIV (PLWH) are living longer and developing comorbidities and aging-related syndromes. New care models are needed to address the combined burden and complexity of HIV and its comorbidities in this group. The goal of this study is to describe qualitative data from patients and providers that informed the development of a comprehensive care model for older PLWH. METHODS: Patient and provider perspectives on the clinical care and service needs of patients living and aging with HIV were explored via surveys and focus groups at a safety net HIV clinic in San Francisco...
2018: PloS One
https://www.readbyqxmd.com/read/30517178/trends-and-emerging-directions-in-hiv-risk-and-prevention-research-in-the-philippines-a-systematic-review-of-the-literature
#14
Arjee Restar, Mary Nguyen, Kimberly Nguyen, Alexander Adia, Jennifer Nazareno, Emily Yoshioka, Laufred Hernandez, Don Operario
BACKGROUND: The Philippines is experiencing one of the fastest growing epidemics globally. Evidence-based public health policies are needed. To describe the public health literature on HIV risk groups and prevention approaches in the Philippines, we reviewed published empirical studies with HIV-related outcomes. METHODS: Based on an a priori systematic review protocol, we searched PubMed, PsycINFO and CINAHL databases for quantitative studies conducted in the Philippines that reported on HIV risk groups factors and interventions to prevent HIV...
2018: PloS One
https://www.readbyqxmd.com/read/30517166/assessment-of-dietary-patterns-physical-activity-and-obesity-from-a-national-survey-rural-urban-health-disparities-in-older-adults
#15
Steven A Cohen, Mary L Greaney, Natalie J Sabik
BACKGROUND: Obesity is a critical public health issue, affecting over one-third of all Americans, and is an underlying cause of numerous health issues across the lifespan. For older adults, obesity is linked to premature declines in physical and mental health and cognitive functioning. The occurrence of obesity and related health behaviors and chronic diseases are higher in rural areas than in urban areas. Furthermore, rural areas of the United States have a higher proportion of older adults than urban areas...
2018: PloS One
https://www.readbyqxmd.com/read/30517161/high-plasma-resistin-associates-with-severe-acute-kidney-injury-in-puumala-hantavirus-infection
#16
Paula S Mantula, Tuula K Outinen, Pia Jaatinen, Mari Hämäläinen, Heini Huhtala, Ilkka H Pörsti, Antti Vaheri, Jukka T Mustonen, Satu M Mäkelä
BACKGROUND: Puumala hantavirus (PUUV) infected patients typically suffer from acute kidney injury (AKI). Adipokines have inflammation modulating functions in acute diseases including AKI. We examined plasma levels of three adipokines (resistin, leptin, and adiponectin) in acute PUUV infection and their associations with disease severity. METHODS: This study included 79 patients hospitalized due to acute PUUV infection. Plasma resistin, leptin, adiponectin, as well as IL-6 and CRP, were measured at the acute phase, recovery phase and one year after hospitalization...
2018: PloS One
https://www.readbyqxmd.com/read/30517127/distribution-of-hcv-genotypes-in-belgium-from-2008-to-2015
#17
Lobna Bouacida, Vanessa Suin, Veronik Hutse, Michaël Boudewijns, Reinoud Cartuyvels, Laurent Debaisieux, Emmanuel De Laere, Marie Hallin, Nicolas Hougardy, Katrien Lagrou, Els Oris, Elizaveta Padalko, Marijke Reynders, Gatien Roussel, Jean-Marc Senterre, Michel Stalpaert, Dominique Ursi, Carl Vael, Dolores Vaira, Jos Van Acker, Walter Verstrepen, Steven Van Gucht, Benoit Kabamba, Sophie Quoilin, Gaëtan Muyldermans
BACKGROUND: The knowledge of circulating HCV genotypes and subtypes in a country is crucial to guide antiviral therapy and to understand local epidemiology. Studies investigating circulating HCV genotypes and their trends have been conducted in Belgium. However they are outdated, lack nationwide representativeness or were not conducted in the general population. METHODS: In order to determine the distribution of different circulating HCV genotypes in Belgium, we conducted a multicentre study with all the 19 Belgian laboratories performing reimbursed HCV genotyping assays...
2018: PloS One
https://www.readbyqxmd.com/read/30517116/discontinuities-in-quinoa-biodiversity-in-the-dry-andes-an-18-century-perspective-based-on-allelic-genotyping
#18
Thierry Winkel, María Gabriela Aguirre, Carla Marcela Arizio, Carlos Alberto Aschero, María Del Pilar Babot, Laure Benoit, Concetta Burgarella, Sabrina Costa-Tártara, Marie-Pierre Dubois, Laurène Gay, Salomón Hocsman, Margaux Jullien, Sara María Luisa López-Campeny, María Marcela Manifesto, Miguel Navascués, Nurit Oliszewski, Elizabeth Pintar, Saliha Zenboudji, Héctor Daniel Bertero, Richard Joffre
History and environment shape crop biodiversity, particularly in areas with vulnerable human communities and ecosystems. Tracing crop biodiversity over time helps understand how rural societies cope with anthropogenic or climatic changes. Exceptionally well preserved ancient DNA of quinoa (Chenopodium quinoa Willd.) from the cold and arid Andes of Argentina has allowed us to track changes and continuities in quinoa diversity over 18 centuries, by coupling genotyping of 157 ancient and modern seeds by 24 SSR markers with cluster and coalescence analyses...
2018: PloS One
https://www.readbyqxmd.com/read/30517114/traveling-pulse-emerges-from-coupled-intermittent-walks-a-case-study-in-sheep
#19
Manon Azaïs, Stéphane Blanco, Richard Bon, Richard Fournier, Marie-Hélène Pillot, Jacques Gautrais
Monitoring small groups of sheep in spontaneous evolution in the field, we decipher behavioural rules that sheep follow at the individual scale in order to sustain collective motion. Individuals alternate grazing mode at null speed and moving mode at walking speed, so cohesive motion stems from synchronising when they decide to switch between the two modes. We propose a model for the individual decision making process, based on switching rates between stopped / walking states that depend on behind / ahead locations and states of the others...
2018: PloS One
https://www.readbyqxmd.com/read/30516965/binding-of-distinct-substrate-conformations-enables-hydroxylation-of-remote-sites-in-thaxtomin-d-by-cytochrome-p450-txtc
#20
Lona Mary Alkhalaf, Sarah Barry, Dean Rea, Angelo Gallo, Daniel Griffiths, Jozef Lewandowski, Vilmos Fülöp, Gregory L Challis
Cytochromes P450 (CYPs) catalyze various oxidative transformations in drug metabolism, xenobiotic degradation and natural product biosynthesis. Here we report biochemical, structural and theoretical studies of TxtC, an unusual bifunctional CYP in-volved in the biosynthesis of the EPA-approved herbicide thaxtomin A. TxtC was shown to hydroxylate two remote sites with-in the Phe residue of its diketopiperazine substrate thaxtomin D. The reactions follow a preferred order, with hydroxylation of the -carbon preceding functionalization of the phenyl group...
December 5, 2018: Journal of the American Chemical Society
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