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https://www.readbyqxmd.com/read/28629821/glycogen-reduction-in-myotubes-of-late-onset-pompe-disease-patients-using-antisense-technology
#1
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes. The disease has been classified in infantile and late-onset forms. Most late-onset patients share a splicing mutation c.-32-13T > G in intron 1 of the GAA gene that prevents efficient recognition of exon 2 by the spliceosome. In this study, we have mapped the splicing silencers of GAA exon 2 and developed antisense morpholino oligonucleotides (AMOs) to inhibit those regions and rescue normal splicing in the presence of the c...
June 16, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28627939/off-label-prescribing-for-children-with-chronic-diseases-in-nigeria-findings-and-implications
#2
Kazeem Adeola Oshikoya, Ibrahim Adekunle Oreagba, Brian Godman, Joseph Fadare, Samuel Orubu, Amos Massele, Idowu Odunayo Senbanjo
BACKGROUND AND AIMS: Prescribing medicines in an off-label manner for children with chronic conditions is sparsely documented, even more so among developing countries. This needs addressing. The objective was to investigate the extent of this prescribing among children with epilepsy, asthma, and sickle cell anaemia in Nigeria. METHODS: Prescriptions for children ≤16 years documented in their case files that attended paediatric clinics in Lagos, Nigeria, for these three conditions between January and October 2015, were reviewed retrospectively to extract data on the medicines prescribed...
June 19, 2017: Expert Opinion on Drug Safety
https://www.readbyqxmd.com/read/28618130/benefits-of-an-individualized-perioperative-plan-for-children-with-autism-spectrum-disorder
#3
Jo S Swartz, Karen E Amos, Mirna Brindas, Linda G Girling, M Ruth Graham
BACKGROUND: Perioperative care for children with autism spectrum disorder may be challenging. Previous investigators recommend development of an individualized perioperative management plan with caregiver involvement. AIM: The primary goal was to determine the usefulness of an individualized plan based on the decision to provide preoperative sedation stratified by autism spectrum severity level. Secondary goals were to assess the effectiveness of the plan based on subjective assessment of patient behavior at induction of anesthesia and caregiver satisfaction...
June 15, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28617029/medium-to-long-term-efficacy-and-safety-of-oral-tacrolimus-in-moderate-to-severe-steroid-refractory-ulcerative-colitis
#4
Raúl Vicente Olmedo Martín, Víctor Amo Trillo, Rocío González Grande, Miguel Jiménez Pérez
BACKGROUND: Oral tacrolimus is an effective drug that induces clinical remission in patients with moderate to severe ulcerative colitis refractory to steroids. However, there is little data with regard to its medium to long-term efficacy and safety. The aim of this study was to assess the medium to long-term efficacy and safety of oral tacrolimus in this challenging clinical situation. METHODS: This was a retrospective observational review of the clinical charts of 34 patients with moderate to severe ulcerative colitis refractory to steroids treated with oral tacrolimus at our hospital (July 2001-July 2016)...
June 15, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28616047/modeling-birth-weight-neonates-and-associated-factors
#5
Mansour Rezaei, Aazm Jahangirimehr, Mehrdad Karimi, Amir Hossien Hashemian, Bahman Mehraban
BACKGROUND: Neonate with abnormal weight is at risk of increased mortality and morbidity. Many factors affect pregnancy outcome. Because of the importance and vital role in birth weight, in this study, some of the factors associated with birth weight in a sample of Iranians neonates were investigated. MATERIALS AND METHODS: In this cross-sectional study, 245 newborns in a sample of Iranians neonates in the year 2013 were selected, and characteristics of neonate and their mothers were derived...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/28615365/a-decade-of-gwas-results-in-lung-cancer
#6
Yohan Bossé, Christopher I Amos
Genome-wide association studies (GWAS) were successful to identify genetic factors robustly associated with lung cancer. This review aims to synthesize the literature in this field and accelerate the translation of GWAS discoveries into results that are closer to clinical applications. A chronological presentation of published GWAS on lung cancer susceptibility, survival and response to treatment is presented. The most important results are tabulated to provide a concise overview in one read. GWAS have reported 45 lung cancer susceptibility loci with varying strength of evidence and highlighted suspected causal genes at each locus...
June 14, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/28615082/differential-responses-in-first-birth-behaviour-to-economic-recession-in-the-united-kingdom
#7
Mark Lyons-Amos, Ingrid Schoon
Economic conditions have dramatic influences on fertility. This paper evaluates the effect of the 2008 'Great Recession' in the UK on first birth rate, which is the fertility behaviour most susceptible to external economic conditions. The key aim of the study was to assess the effect of the recession on fertility by individual-level characteristics, enabling variation in responses to economic hardship to be observed. Data were from the nationally representative UK Household Longitudinal Study (UK-HLS). Cumulative transition models were used to model the probability of first birth for women between the ages of 17 and 30 in three UK birth cohorts...
June 15, 2017: Journal of Biosocial Science
https://www.readbyqxmd.com/read/28614771/mantidis-ootheca-induces-vascular-relaxation-through-pi3k-akt-mediated-nitric-oxide-cyclic-gmp-protein-kinase-g-signaling-in-endothelial-cells
#8
H Y Kim, Y J Lee, B H Han, J J Yoon, Y M Ahn, M H Hong, R Tan, D G Kang, H S Lee
Mantidis ootheca (Sang Piao Xiao) is well known mantis eggs in a foamy pouch. The purpose of the present study was to investigate the underlying cellular mechanisms of the nitric oxide (NO)-releasing property of the aqueous extract of Mantidis ootheca (AMO) in rat aorta and vascular endothelial cells. AMO was examined for its vascular relaxant effect in isolated phenylephrine-precontracted rat thoracic aortic rings. The roles of the nitric oxide (NO) signaling in the AMO-induced effects were tested in human umbilical vein endothelial cells (HUVECs)...
April 2017: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28613847/type-ii-anion-relay-chemistry-conformational-constraints-to-achieve-effective-1-5-vinyl-brook-rearrangements
#9
Qi Liu, Yu Chen, Xiao Zhang, K N Houk, Yong Liang, Amos B Smith
The design, synthesis, and evaluation of bifunctional linchpins, conformationally anchored on six-membered rings to achieve efficient [1,5]-Brook rearrangements involving vinyl silanes have been achieved. The restrained linchpins were subsequently exploited in type II anion relay chemistry (ARC) to permit both alkylations and Pd-mediated cross-coupling reactions (CCR) of sp(2) stabilized carbanions. DFT calculations were then employed to understand the mechanism and reactivity trends of [1,4]- and [1,5]-vinyl Brook rearrangements to provide insight on the role of the required copper reagent and the substrate geometry...
June 14, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28609730/virus-removal-by-ultrafiltration-understanding-long-term-performance-change-by-application-of-bayesian-analysis
#10
Guido Carvajal, Amos Branch, Scott A Sisson, David J Roser, Ben van den Akker, Paul Monis, Petra Reeve, Alexandra Keegan, Rudi Regel, Stuart J Khan
Ultrafiltration is an effective barrier to waterborne pathogens including viruses. Challenge testing is commonly used to test the inherent reliability of such systems. Performance validation seeks to demonstrate the adequate reliability of the treatment system. Appropriate and rigorous data analysis is an essential aspect of validation testing. In this study we used Bayesian analysis to assess the performance of a full-scale ultrafiltration system which was validated and revalidated after five years of operation...
May 30, 2017: Water Research
https://www.readbyqxmd.com/read/28607180/p53-is-essential-for-dna-methylation-homeostasis-in-na%C3%A3-ve-embryonic-stem-cells-and-its-loss-promotes-clonal-heterogeneity
#11
Ayala Tovy, Adam Spiro, Ryan McCarthy, Zohar Shipony, Yael Aylon, Kendra Alton, Elena Ainbinder, Noa Furth, Amos Tanay, Michelle Barton, Moshe Oren
DNA methylation is a key regulator of embryonic stem cell (ESC) biology, dynamically changing between naïve, primed, and differentiated states. The p53 tumor suppressor is a pivotal guardian of genomic stability, but its contributions to epigenetic regulation and stem cell biology are less explored. We report that, in naïve mouse ESCs (mESCs), p53 restricts the expression of the de novo DNA methyltransferases Dnmt3a and Dnmt3b while up-regulating Tet1 and Tet2, which promote DNA demethylation. The DNA methylation imbalance in p53-deficient (p53(-/-)) mESCs is the result of augmented overall DNA methylation as well as increased methylation landscape heterogeneity...
June 12, 2017: Genes & Development
https://www.readbyqxmd.com/read/28605629/analytic-information-processing-style-in-epilepsy-patients
#12
Marzia Buonfiglio, Francesco Di Sabato, Silvia Mandillo, Mariarita Albini, Carlo Di Bonaventura, Annateresa Giallonardo, Giuliano Avanzini
Relevant to the study of epileptogenesis is learning processing, given the pivotal role that neuroplasticity assumes in both mechanisms. Recently, evoked potential analyses showed a link between analytic cognitive style and altered neural excitability in both migraine and healthy subjects, regardless of cognitive impairment or psychological disorders. In this study we evaluated analytic/global and visual/auditory perceptual dimensions of cognitive style in patients with epilepsy. Twenty-five cryptogenic temporal lobe epilepsy (TLE) patients matched with 25 idiopathic generalized epilepsy (IGE) sufferers and 25 healthy volunteers were recruited and participated in three cognitive style tests: "Sternberg-Wagner Self-Assessment Inventory", the C...
June 9, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28604730/large-scale-association-analysis-identifies-new-lung-cancer-susceptibility-loci-and-heterogeneity-in-genetic-susceptibility-across-histological-subtypes
#13
James D McKay, Rayjean J Hung, Younghun Han, Xuchen Zong, Robert Carreras-Torres, David C Christiani, Neil E Caporaso, Mattias Johansson, Xiangjun Xiao, Yafang Li, Jinyoung Byun, Alison Dunning, Karen A Pooley, David C Qian, Xuemei Ji, Geoffrey Liu, Maria N Timofeeva, Stig E Bojesen, Xifeng Wu, Loic Le Marchand, Demetrios Albanes, Heike Bickeböller, Melinda C Aldrich, William S Bush, Adonina Tardon, Gad Rennert, M Dawn Teare, John K Field, Lambertus A Kiemeney, Philip Lazarus, Aage Haugen, Stephen Lam, Matthew B Schabath, Angeline S Andrew, Hongbing Shen, Yun-Chul Hong, Jian-Min Yuan, Pier Alberto Bertazzi, Angela C Pesatori, Yuanqing Ye, Nancy Diao, Li Su, Ruyang Zhang, Yonathan Brhane, Natasha Leighl, Jakob S Johansen, Anders Mellemgaard, Walid Saliba, Christopher A Haiman, Lynne R Wilkens, Ana Fernandez-Somoano, Guillermo Fernandez-Tardon, Henricus F M van der Heijden, Jin Hee Kim, Juncheng Dai, Zhibin Hu, Michael P A Davies, Michael W Marcus, Hans Brunnström, Jonas Manjer, Olle Melander, David C Muller, Kim Overvad, Antonia Trichopoulou, Rosario Tumino, Jennifer A Doherty, Matt P Barnett, Chu Chen, Gary E Goodman, Angela Cox, Fiona Taylor, Penella Woll, Irene Brüske, H-Erich Wichmann, Judith Manz, Thomas R Muley, Angela Risch, Albert Rosenberger, Kjell Grankvist, Mikael Johansson, Frances A Shepherd, Ming-Sound Tsao, Susanne M Arnold, Eric B Haura, Ciprian Bolca, Ivana Holcatova, Vladimir Janout, Milica Kontic, Jolanta Lissowska, Anush Mukeria, Simona Ognjanovic, Tadeusz M Orlowski, Ghislaine Scelo, Beata Swiatkowska, David Zaridze, Per Bakke, Vidar Skaug, Shanbeh Zienolddiny, Eric J Duell, Lesley M Butler, Woon-Puay Koh, Yu-Tang Gao, Richard S Houlston, John McLaughlin, Victoria L Stevens, Philippe Joubert, Maxime Lamontagne, David C Nickle, Ma'en Obeidat, Wim Timens, Bin Zhu, Lei Song, Linda Kachuri, María Soler Artigas, Martin D Tobin, Louise V Wain, Thorunn Rafnar, Thorgeir E Thorgeirsson, Gunnar W Reginsson, Kari Stefansson, Dana B Hancock, Laura J Bierut, Margaret R Spitz, Nathan C Gaddis, Sharon M Lutz, Fangyi Gu, Eric O Johnson, Ahsan Kamal, Claudio Pikielny, Dakai Zhu, Sara Lindströem, Xia Jiang, Rachel F Tyndale, Georgia Chenevix-Trench, Jonathan Beesley, Yohan Bossé, Stephen Chanock, Paul Brennan, Maria Teresa Landi, Christopher I Amos
Although several lung cancer susceptibility loci have been identified, much of the heritability for lung cancer remains unexplained. Here 14,803 cases and 12,262 controls of European descent were genotyped on the OncoArray and combined with existing data for an aggregated genome-wide association study (GWAS) analysis of lung cancer in 29,266 cases and 56,450 controls. We identified 18 susceptibility loci achieving genome-wide significance, including 10 new loci. The new loci highlight the striking heterogeneity in genetic susceptibility across the histological subtypes of lung cancer, with four loci associated with lung cancer overall and six loci associated with lung adenocarcinoma...
June 12, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28603710/use-of-non-prescription-remedies-by-ghanaian-human-immunodeficiency-virus-positive-persons-on-antiretroviral-therapy
#14
Amos K Laar, Awewura Kwara, Priscillia A Nortey, Augustine K Ankomah, Michael P K Okyerefo, Margaret Y Lartey
BACKGROUND: Inappropriate use of non-prescription remedies by persons living with human immunodeficiency virus (PLHIV) may result in adverse events or potentiate non-adherence to prescribed medications. This study investigated the use of non-prescription remedies among PLHIV receiving antiretroviral therapy (ART) from four treatment centers in southern Ghana. METHODS: A mixed method design using quantitative and qualitative methods was used. This article focuses on the quantitative survey of 540 respondents...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28599289/enhanced-antiproliferative-activity-of-antibody-functionalized-polymeric-nanoparticles-for-targeted-delivery-of-anti-mir-21-to-her2-positive-gastric-cancer
#15
Feng-Lei Wu, Jian Zhang, Wei Li, Bao-Xiang Bian, Yi-Dong Hong, Zi-Yan Song, Hui-Yu Wang, Fang-Bo Cui, Ru-Tian Li, Qin Liu, Xiao-Dong Jiang, Xiao-Min Li, Jun-Nian Zheng
MiR-21 is an oncogenic miR frequently elevated in gastric cancer. Overexpression of miR-21 decreases the sensitivity of gastric cancer cells to trastuzumab, which is a humanized monoclonal antibody targeting human epidermal growth factor receptor 2. However, optimization of miRNA or its anti-miRNA oligonucleotides (AMOs) for delivery is a challenge. Receptor-mediated endocytosis plays a crucial role in the delivery of biotherapeutics including AMOs. This study is a continuation of our earlier findings involving poly(ε-caprolactone) (PCL)-poly (ethylene glycol) (PEG) nanoparticles (PEG-PCL NPs), which were coated with trastuzumab to target gastric cancer cells with HER2 receptor over-expression using anti-miRNA-21 antisense oligonucleotides (AMO-21)...
May 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28594918/obesity-metabolic-factors-and-risk-of-different-histological-types-of-lung-cancer-a-mendelian-randomization-study
#16
Robert Carreras-Torres, Mattias Johansson, Philip C Haycock, Kaitlin H Wade, Caroline L Relton, Richard M Martin, George Davey Smith, Demetrius Albanes, Melinda C Aldrich, Angeline Andrew, Susanne M Arnold, Heike Bickeböller, Stig E Bojesen, Hans Brunnström, Jonas Manjer, Irene Brüske, Neil E Caporaso, Chu Chen, David C Christiani, W Jay Christian, Jennifer A Doherty, Eric J Duell, John K Field, Michael P A Davies, Michael W Marcus, Gary E Goodman, Kjell Grankvist, Aage Haugen, Yun-Chul Hong, Lambertus A Kiemeney, Erik H F M van der Heijden, Peter Kraft, Mikael B Johansson, Stephen Lam, Maria Teresa Landi, Philip Lazarus, Loïc Le Marchand, Geoffrey Liu, Olle Melander, Sungshim L Park, Gad Rennert, Angela Risch, Eric B Haura, Ghislaine Scelo, David Zaridze, Anush Mukeriya, Milan Savić, Jolanta Lissowska, Beata Swiatkowska, Vladimir Janout, Ivana Holcatova, Dana Mates, Matthew B Schabath, Hongbing Shen, Adonina Tardon, M Dawn Teare, Penella Woll, Ming-Sound Tsao, Xifeng Wu, Jian-Min Yuan, Rayjean J Hung, Christopher I Amos, James McKay, Paul Brennan
BACKGROUND: Assessing the relationship between lung cancer and metabolic conditions is challenging because of the confounding effect of tobacco. Mendelian randomization (MR), or the use of genetic instrumental variables to assess causality, may help to identify the metabolic drivers of lung cancer. METHODS AND FINDINGS: We identified genetic instruments for potential metabolic risk factors and evaluated these in relation to risk using 29,266 lung cancer cases (including 11,273 adenocarcinomas, 7,426 squamous cell and 2,664 small cell cases) and 56,450 controls...
2017: PloS One
https://www.readbyqxmd.com/read/28587779/use-of-dual-filtering-to-create-training-sets-leading-to-improved-accuracy-in-quantitative-structure-retention-relationships-modelling-for-hydrophilic-interaction-liquid-chromatographic-systems
#17
Maryam Taraji, Paul R Haddad, Ruth I J Amos, Mohammad Talebi, Roman Szucs, John W Dolan, Christopher A Pohl
The development of quantitative structure retention relationships (QSRR) having sufficient accuracy to support high performance liquid chromatography (HPLC) method development is still a major issue. To tackle this challenge, this study presents a novel QSRR methodology to select a training set of compounds for QSRR modelling (i.e. to filter the database to identify the most appropriate compounds for the training set). This selection is based on a dual filtering strategy which combines Tanimoto similarity (TS) searching as the primary filter and retention time (tR) similarity clustering as the secondary filter, using a database of pharmaceutical compound retention times collected over a wide range of hydrophilic interaction liquid chromatography (HILIC) systems...
May 23, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/28586303/craving-for-cigarette-smoking-among-male-adolescents-in-isfahan-based-on-mindfulness-and-emotional-self-regulation
#18
Mehdi Nosratabadi, Zohreh Halvaiepour, Seyed Hashem Abootorabi
Background Cigarette smoking among adolescents and its consequences are categorized as serious health problems. Cigarette craving is influenced by various psycho-social factors. Objective This study aimed to investigate desire and intention to smoke based on mindfulness and emotional self-regulation in adolescents. Methods In this correlational study conducted based on structural equation modeling, a sample of 350 male students was randomly selected from different schools of education districts in Isfahan. Three questionnaires, including Hooked on Nicotine Checklist, emotional regulation inventory, and Mindful Attention Awareness Scale were employed...
June 6, 2017: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/28583493/endoscopic-esophageal-and-tracheal-cauterization-for-closure-of-recurrent-tracheoesophageal-fistula-a-case-report-and-review-of-the-literature
#19
REVIEW
Stacie Gregory, Robert H Chun, Daiva Parakininkas, Louella Amos, Roger Fons, Diana G Lerner, Dave R Lal, Cecille Sulman
OBJECTIVE: Recurrent tracheoesophageal fistula (TEF) can be a diagnostic and therapeutic challenge. Traditional treatment is thoracotomy, which carries significant morbidity and technical difficulty especially in a previously operated field. Recently, endoscopic techniques have been advocated as a primary approach for treatment of recurrent TEF prior to open repair. This case report describes the endoscopic technique used to address a recurrent TEF. The existing literature of all reported endoscopic cauterization methods is reviewed...
July 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28580029/how-does-mentoring-contribute-to-gen-y-employees-intention-to-stay-an-indian-perspective
#20
Mohammad Faraz Naim, Usha Lenka
The present study is aimed at investigating the impact of mentoring on intention to stay of Gen Y employees working in Indian IT industry. Also, the mediating roles of perceived organization support and affective commitment are examined. Primary data were collected from a sample of 314 Gen Y employees (born between 1980-2000) from IT industry in Delhi, NCR India. Data analysis was carried out using AMOS and SPSS to test sequential mediation. Findings reveal that mentoring has a direct influence on intention to stay of Gen Y employees and perceived organization support and affective commitment sequentially mediate the relationship between the two...
May 2017: Europe's journal of psychology
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