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https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#1
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149707/over-expression-of-cyclooxygenase-2-in-increased-reticulated-platelets-leads-to-aspirin-resistance-after-elective-off-pump-coronary-artery-bypass-surgery
#2
Xiaoxuan Gong, Xuezhong Wang, Zhuowen Xu, Tiantian Zhu, Qiu Zhang, Jinying Zhang, Xiaowei Wang, Chunjian Li
INTRODUCTION: Aspirin resistance (AR) has been reported to present after coronary artery bypass graft causing saphenous vein graft failure. We aimed to investigate the factors that affect the anti-platelet effect of aspirin after off-pump coronary artery bypass surgery (OPCAB). MATERIALS AND METHODS: Thirty OPCAB candidates were successively recruited. Platelet count, platelet aggregation, reticulated platelet (RP), platelets' cyclooxygenase (COX)-1 and COX-2 expressions were determined during the peri-operative period...
November 9, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/29149683/online-sexual-solicitation-by-adults-and-peers-results-from-a-population-based-german-sample
#3
Halina Sklenarova, Anja Schulz, Petya Schuhmann, Michael Osterheider, Janina Neutze
Prevalence of Internet use among adolescents is high, but little is known about the online sexual activities of German adolescents. This study aimed to describe the 12-month prevalence of German adolescents' online sexual experiences with a focus on Online Sexual Solicitation (OSS, subjectively negative online sexual experiences with a peer or any sexual online experience, positive or negative, with an adult). A sample of male and female adolescents aged 14-17 (N=2238) was recruited using online survey panel...
November 14, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29149669/effective-clinical-classification-of-chronic-epilepsy-into-focal-and-generalized-a-cross-sectional-study
#4
Shambhu Kumar, Mamta Bhushan Singh, Garima Shukla, Sreenivas Vishnubhatla, M V Padma Srivastava, Vinay Goyal, Kameshwar Prasad, Victor Patterson
PURPOSE: Investigations such as EEG and brain imaging are often difficult to obtain in primary care settings of resource-limited regions impacting millions of epilepsy patients. We wanted to test the hypothesis that classification of chronic epilepsy into focal and generalized based on clinical history and examination alone would be comparable to making such a classification with additional inputs from EEG and brain imaging. METHODS: Two investigators independently classified consecutive chronic epilepsy patients into focal, generalized and unclassified epilepsy...
November 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29149653/prevalence-of-internet-addiction-and-its-risk-and-protective-factors-in-a-representative-sample-of-senior-high-school-students-in-taiwan
#5
Min-Pei Lin, Jo Yung-Wei Wu, Jianing You, Wei-Hsuan Hu, Cheng-Fang Yen
The aim of this study investigated the prevalence of Internet addiction (IA) in a large representative sample of secondary school students and identified the risk and protective factors. Using a crosssectional design, 2170 participants were recruited from senior high schools throughout Taiwan using both stratified and cluster sampling. The prevalence of IA was 17.4% (95% confidence interval, 15.8%-19.0%). High impulsivity, low refusal self-efficacy of Internet use, high positive outcome expectancy of Internet use, high disapproving attitude of Internet use by others, depressive symptoms, low subjective well-being, high frequency of others' invitation to Internet use, and high virtual social support was all independently predictive in the logistic regression analysis...
November 14, 2017: Journal of Adolescence
https://www.readbyqxmd.com/read/29149618/effectiveness-of-a-patient-centred-empowerment-based-intervention-programme-among-patients-with-poorly-controlled-type-2-diabetes-a-randomised-controlled-trial
#6
Li Cheng, Janet W H Sit, Kai-Chow Choi, Sek-Ying Chair, Xiaomei Li, Yuning Wu, Junhong Long, Meihua Tao
BACKGROUND: Despite extensive efforts and advances in evidence-based diabetes management, poor glycaemic control still remains a challenge in many countries. There is a paucity of research addressing the needs of patients with poorly controlled type 2 diabetes, or exploring the effectiveness of empowerment-based interventions in this vulnerable population. OBJECTIVES: To evaluate the effectiveness of a patient-centred, empowerment-based programme on glycaemic control and self-management behaviours among patients with poorly controlled type 2 diabetes...
November 3, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/29149617/decoding-early-and-late-cortical-contributions-to-individuation-of-attended-and-unattended-objects
#7
Claire K Naughtin, Jason B Mattingley, Angela D Bender, Paul E Dux
To isolate a visual stimulus as a unique object with a specific spatial location and time of occurrence, it is necessary to first register (individuate) the stimulus as a distinct perceptual entity. Recent investigations into the neural substrates of object individuation have suggested it is subserved by a distributed neural network, but previous manipulations of individuation load have introduced extraneous visual confounds, which might have yielded ambiguous findings, particularly in early cortical areas...
November 8, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29149605/bias-factor-and-therapeutic-window-correlate-to-predict-safer-opioid-analgesics
#8
Cullen L Schmid, Nicole M Kennedy, Nicolette C Ross, Kimberly M Lovell, Zhizhou Yue, Jenny Morgenweck, Michael D Cameron, Thomas D Bannister, Laura M Bohn
Biased agonism has been proposed as a means to separate desirable and adverse drug responses downstream of G protein-coupled receptor (GPCR) targets. Herein, we describe structural features of a series of mu-opioid-receptor (MOR)-selective agonists that preferentially activate receptors to couple to G proteins or to recruit βarrestin proteins. By comparing relative bias for MOR-mediated signaling in each pathway, we demonstrate a strong correlation between the respiratory suppression/antinociception therapeutic window in a series of compounds spanning a wide range of signaling bias...
November 16, 2017: Cell
https://www.readbyqxmd.com/read/29149603/structural-basis-of-mitochondrial-transcription-initiation
#9
Hauke S Hillen, Yaroslav I Morozov, Azadeh Sarfallah, Dmitry Temiakov, Patrick Cramer
Transcription in human mitochondria is driven by a single-subunit, factor-dependent RNA polymerase (mtRNAP). Despite its critical role in both expression and replication of the mitochondrial genome, transcription initiation by mtRNAP remains poorly understood. Here, we report crystal structures of human mitochondrial transcription initiation complexes assembled on both light and heavy strand promoters. The structures reveal how transcription factors TFAM and TFB2M assist mtRNAP to achieve promoter-dependent initiation...
November 16, 2017: Cell
https://www.readbyqxmd.com/read/29149595/sterol-oxidation-mediates-stress-responsive-vms1-translocation-to-mitochondria
#10
Jason R Nielson, Eric K Fredrickson, T Cameron Waller, Olga Zurita Rendón, Heidi L Schubert, Zhenjian Lin, Christopher P Hill, Jared Rutter
Vms1 translocates to damaged mitochondria in response to stress, whereupon its binding partner, Cdc48, contributes to mitochondrial protein homeostasis. Mitochondrial targeting of Vms1 is mediated by its conserved mitochondrial targeting domain (MTD), which, in unstressed conditions, is inhibited by intramolecular binding to the Vms1 leucine-rich sequence (LRS). Here, we report a 2.7 Å crystal structure of Vms1 that reveals that the LRS lies in a hydrophobic groove in the autoinhibited MTD. We also demonstrate that the oxidized sterol, ergosterol peroxide, is necessary and sufficient for Vms1 localization to mitochondria, through binding the MTD in an interaction that is competitive with binding to the LRS...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29149347/signal-recognition-particle-binds-to-translating-ribosomes-before-emergence-of-a-signal-anchor-sequence
#11
Evan Mercier, Wolf Holtkamp, Marina V Rodnina, Wolfgang Wintermeyer
The bacterial signal recognition particle (SRP) is part of the machinery that targets ribosomes synthesizing membrane proteins to membrane-embedded translocons co-translationally. Recognition of nascent membrane proteins occurs by virtue of a hydrophobic signal-anchor sequence (SAS) contained in the nascent chain, usually at the N terminus. Here we use fluorescence-based stopped-flow to monitor SRP-ribosome interactions with actively translating ribosomes while an SRP substrate is synthesized and emerges from the peptide exit tunnel...
November 16, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29149325/the-iuphar-bps-guide-to-pharmacology-in-2018-updates-and-expansion-to-encompass-the-new-guide-to-immunopharmacology
#12
Simon D Harding, Joanna L Sharman, Elena Faccenda, Chris Southan, Adam J Pawson, Sam Ireland, Alasdair J G Gray, Liam Bruce, Stephen P H Alexander, Stephen Anderton, Clare Bryant, Anthony P Davenport, Christian Doerig, Doriano Fabbro, Francesca Levi-Schaffer, Michael Spedding, Jamie A Davies
The IUPHAR/BPS Guide to PHARMACOLOGY (GtoPdb, www.guidetopharmacology.org) and its precursor IUPHAR-DB, have captured expert-curated interactions between targets and ligands from selected papers in pharmacology and drug discovery since 2003. This resource continues to be developed in conjunction with the International Union of Basic and Clinical Pharmacology (IUPHAR) and the British Pharmacological Society (BPS). As previously described, our unique model of content selection and quality control is based on 96 target-class subcommittees comprising 512 scientists collaborating with in-house curators...
November 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29149171/risk-factors-for-hospitalizations-among-patients-with-cirrhosis-a-prospective-cohort-study
#13
Shari S Rogal, Viyan Udawatta, Imo Akpan, Akshata Moghe, Alexis Chidi, Amit Shetty, Eva Szigethy, Klaus Bielefeldt, Andrea DiMartini
This study was designed to assess unique baseline factors associated with subsequent hospitalizations in a cohort of outpatients with cirrhosis. A cohort of 193 patients with cirrhosis was recruited from an outpatient liver disease clinic at a single, tertiary medical center. Comorbidities, prescription medications, liver disease symptoms and severity, and psychiatric and pain symptoms were assessed at baseline using validated instruments. Inflammatory markers were measured using standardized Luminex assays...
2017: PloS One
https://www.readbyqxmd.com/read/29148968/collecting-practice-level-data-in-a-changing-physician-office-based-ambulatory-care-environment-a-pilot-study-examining-the-physician-induction-interview-component-of-the-national-ambulatory-medical-care-survey
#14
Meghan C Halley, Katharine A Rendle, Brian Gugerty, Denys T Lau, Harold S Luft
Objective This report examines ways to improve National Ambulatory Medical Care Survey (NAMCS) data on practice and physician characteristics in multispecialty group practices. Methods From February to April 2013, the National Center for Health Statistics (NCHS) conducted a pilot study to observe the collection of the NAMCS physician interview information component in a large multispecialty group practice. Nine physicians were randomly sampled using standard NAMCS recruitment procedures; eight were eligible and agreed to participate...
November 2017: Vital and Health Statistics. Series 2, Data Evaluation and Methods Research
https://www.readbyqxmd.com/read/29148907/impact-of-patients-expressed-wishes-on-their-surrogate-decision-makers-preferred-decision-making-roles-in-japan
#15
Shuji Tsuda, Mieko Nakamura, Shigeru Aoki, Hiroshi Ono, Mitsuru Takagi, Hiroki Ohashi, Junichiro Miyachi, Yoshinori Matsui, Toshiyuki Ojima
BACKGROUND: Home medical care (HMC) patients and their families are expected to prepare for end-of-life decision making. OBJECTIVE: We investigated the decision readiness of HMC patients and their family surrogates. DESIGN: Cross-sectional survey. SETTING/SUBJECTS: We collected data from dyads, consisting of a HMC patient aged 65 years or older and a family member of the patient, recruited at four Japanese primary care clinics from January 2016 to November 2016...
November 17, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29148845/speech-recovery-and-language-plasticity-can-be-facilitated-by-sensori-motor-fusion-training-in-chronic-non-fluent-aphasia-a-case-report-study
#16
Célise Haldin, Audrey Acher, Louise Kauffmann, Thomas Hueber, Emilie Cousin, Pierre Badin, Pascal Perrier, Diandra Fabre, Dominic Perennou, Olivier Detante, Assia Jaillard, Hélène Lœvenbruck, Monica Baciu
The rehabilitation of speech disorders benefits from providing visual information which may improve speech motor plans in patients. We tested the proof of concept of a rehabilitation method (Sensori-Motor Fusion, SMF; Ultraspeech player) in one post-stroke patient presenting chronic non-fluent aphasia. SMF allows visualisation by the patient of target tongue and lips movements using high-speed ultrasound and video imaging. This can improve the patient's awareness of his/her own lingual and labial movements, which can, in turn, improve the representation of articulatory movements and increase the ability to coordinate and combine articulatory gestures...
November 17, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29148826/engagement-in-the-overdose-risk-information-orion-e-health-tool-for-opioid-overdose-prevention-and-self-efficacy-a-preliminary-study
#17
Giuseppe Carrà, Cristina Crocamo, Gerald Humphris, Tommaso Tabacchi, Francesco Bartoli, Julia Neufeind, Norbert Scherbaum, Alexander Baldacchino
Increasing awareness of, and information about, overdose risk is an appropriate approach in risk reduction. e-Health technology in substance use disorders is an opportunity to support behavioral changes related to public health concerns. The present study aimed to evaluate the short-term impact of an innovative e-health psychoeducational software, the Overdose RIsk InfOrmatioN (ORION) tool. The ORION programme provided relevant information to opioid-dependent individuals about the risk of suffering a drug overdose as a result of high risky and dysfunctional behaviors...
November 17, 2017: Cyberpsychology, Behavior and Social Networking
https://www.readbyqxmd.com/read/29148566/factors-that-influence-the-provision-of-intrapartum-and-postnatal-care-by-skilled-birth-attendants-in-low-and-middle-income-countries-a-qualitative-evidence-synthesis
#18
REVIEW
Susan Munabi-Babigumira, Claire Glenton, Simon Lewin, Atle Fretheim, Harriet Nabudere
BACKGROUND: In many low- and middle-income countries women are encouraged to give birth in clinics and hospitals so that they can receive care from skilled birth attendants. A skilled birth attendant (SBA) is a health worker such as a midwife, doctor, or nurse who is trained to manage normal pregnancy and childbirth. (S)he is also trained to identify, manage, and refer any health problems that arise for mother and baby. The skills, attitudes and behaviour of SBAs, and the extent to which they work in an enabling working environment, impact on the quality of care provided...
November 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29148565/tobacco-cessation-interventions-for-young-people
#19
REVIEW
Thomas R Fanshawe, William Halliwell, Nicola Lindson, Paul Aveyard, Jonathan Livingstone-Banks, Jamie Hartmann-Boyce
BACKGROUND: Most tobacco control programmes for adolescents are based around prevention of uptake, but teenage smoking is still common. It is unclear if interventions that are effective for adults can also help adolescents to quit. This is the update of a Cochrane Review first published in 2006. OBJECTIVES: To evaluate the effectiveness of strategies that help young people to stop smoking tobacco. SEARCH METHODS: We searched the Cochrane Tobacco Addiction Group's Specialized Register in June 2017...
November 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29148424/effect-of-the-metabolic-syndrome-on-organ-damage-and-mortality-in-patients-with-systemic-lupus-erythematosus-a-longitudinal-analysis
#20
Chi Chiu Mok, Sau Mei Tse, Kar Li Chan, Ling Yin Ho
OBJECTIVES: To study the effect of the metabolic syndrome (MetS) on organ damage and mortality in patients with SLE. METHODS: Consecutive patients who fulfilled ≥4 ACR criteria for SLE were assessed for the MetS in October 2010. The MetS was defined by the updated joint consensus criteria, using the Asian criteria for central obesity. Longitudinal data on organ damage and mortality were retrieved. The association between MetS and new damage and mortality was studied by logistic regression...
October 18, 2017: Clinical and Experimental Rheumatology
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