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https://www.readbyqxmd.com/read/28222119/revised-hammersmith-scale-for-spinal-muscular-atrophy-a-sma-specific-clinical-outcome-assessment-tool
#1
Danielle Ramsey, Mariacristina Scoto, Anna Mayhew, Marion Main, Elena S Mazzone, Jacqueline Montes, Roberto de Sanctis, Sally Dunaway Young, Rachel Salazar, Allan M Glanzman, Amy Pasternak, Janet Quigley, Elizabeth Mirek, Tina Duong, Richard Gee, Matthew Civitello, Gihan Tennekoon, Marika Pane, Maria Carmela Pera, Kate Bushby, John Day, Basil T Darras, Darryl De Vivo, Richard Finkel, Eugenio Mercuri, Francesco Muntoni
Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale Expanded and developed a revised functional scale using Rasch analysis, traditional psychometric techniques and the application of clinical sensibility via expert panels...
2017: PloS One
https://www.readbyqxmd.com/read/28220459/-how-would-you-call-this-in-english-being-reflective-about-translations-in-international-cross-cultural-qualitative-research
#2
Esther Helmich, Sayra Cristancho, Laura Diachun, Lorelei Lingard
INTRODUCTION: Medical education researchers increasingly collaborate in international teams, collecting data in different languages and from different parts of the world, and then disseminating them in English-language journals. Although this requires an ever-present need to translate, it often occurs uncritically. With this paper we aim to enhance researchers' awareness and reflexivity regarding translations in qualitative research. METHODS: In an international study, we carried out interviews in both Dutch and English...
February 20, 2017: Perspectives on Medical Education
https://www.readbyqxmd.com/read/28219628/subcortical-brain-volume-differences-in-participants-with-attention-deficit-hyperactivity-disorder-in-children-and-adults-a-cross-sectional-mega-analysis
#3
Martine Hoogman, Janita Bralten, Derrek P Hibar, Maarten Mennes, Marcel P Zwiers, Lizanne S J Schweren, Kimm J E van Hulzen, Sarah E Medland, Elena Shumskaya, Neda Jahanshad, Patrick de Zeeuw, Eszter Szekely, Gustavo Sudre, Thomas Wolfers, Alberdingk M H Onnink, Janneke T Dammers, Jeanette C Mostert, Yolanda Vives-Gilabert, Gregor Kohls, Eileen Oberwelland, Jochen Seitz, Martin Schulte-Rüther, Sara Ambrosino, Alysa E Doyle, Marie F Høvik, Margaretha Dramsdahl, Leanne Tamm, Theo G M van Erp, Anders Dale, Andrew Schork, Annette Conzelmann, Kathrin Zierhut, Ramona Baur, Hazel McCarthy, Yuliya N Yoncheva, Ana Cubillo, Kaylita Chantiluke, Mitul A Mehta, Yannis Paloyelis, Sarah Hohmann, Sarah Baumeister, Ivanei Bramati, Paulo Mattos, Fernanda Tovar-Moll, Pamela Douglas, Tobias Banaschewski, Daniel Brandeis, Jonna Kuntsi, Philip Asherson, Katya Rubia, Clare Kelly, Adriana Di Martino, Michael P Milham, Francisco X Castellanos, Thomas Frodl, Mariam Zentis, Klaus-Peter Lesch, Andreas Reif, Paul Pauli, Terry L Jernigan, Jan Haavik, Kerstin J Plessen, Astri J Lundervold, Kenneth Hugdahl, Larry J Seidman, Joseph Biederman, Nanda Rommelse, Dirk J Heslenfeld, Catharina A Hartman, Pieter J Hoekstra, Jaap Oosterlaan, Georg von Polier, Kerstin Konrad, Oscar Vilarroya, Josep Antoni Ramos-Quiroga, Joan Carles Soliva, Sarah Durston, Jan K Buitelaar, Stephen V Faraone, Philip Shaw, Paul M Thompson, Barbara Franke
BACKGROUND: Neuroimaging studies have shown structural alterations in several brain regions in children and adults with attention deficit hyperactivity disorder (ADHD). Through the formation of the international ENIGMA ADHD Working Group, we aimed to address weaknesses of previous imaging studies and meta-analyses, namely inadequate sample size and methodological heterogeneity. We aimed to investigate whether there are structural differences in children and adults with ADHD compared with those without this diagnosis...
February 16, 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/28216856/feasibility-and-acceptability-of-implementing-the-integrated-care-plan-for-the-dying-in-the-indian-setting-survey-of-perspectives-of-indian-palliative-care-providers
#4
Naveen Salins, Jeremy Johnson, Stanley Macaden
INTRODUCTION: Capacity to provide end-of-life care in India is scored as 0.6/100, and very few people in India have access to palliative and end-of-life care. Lack of end-of-life care provision in India has led to a significant number of people receiving inappropriate medical treatment at the end of life, with no access to pain and symptom control and high treatment costs. The International Collaborative for the Best Care for the Dying Person is an initiative that offers the opportunity to apply international evidence on the key factors required to provide best care for the dying in the Indian context...
January 2017: Indian Journal of Palliative Care
https://www.readbyqxmd.com/read/28216072/smoking-and-pre-existing-organ-damage-reduce-the-efficacy-of-belimumab-in-systemic-lupus-erythematosus
#5
REVIEW
Ioannis Parodis, Christopher Sjöwall, Andreas Jönsen, Daniel Ramsköld, Agneta Zickert, Martina Frodlund, Azita Sohrabian, Laurent Arnaud, Johan Rönnelid, Vivianne Malmström, Anders A Bengtsson, Iva Gunnarsson
OBJECTIVES: Belimumab is the first biologic drug approved for Systemic Lupus Erythematosus (SLE). Here, we aimed to investigate the effects of belimumab on clinical and serologic outcomes, and sought to identify predictors of treatment response in three Swedish real-life settings. METHODS: Fifty-eight patients were enrolled at initiation of belimumab and followed longitudinally for up to 53months. Surveillance outcomes included the SLE Disease Activity Index 2000 (SLEDAI-2K), 100mm Visual Analogue Scales for Physician"s Global Assessment (PGA), fatigue, pain and general health, and the Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI)...
February 12, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28214419/recommendations-for-gonadotoxicity-surveillance-in-male-childhood-adolescent-and-young-adult-cancer-survivors-a-report-from-the-international-late-effects-of-childhood-cancer-guideline-harmonization-group-in-collaboration-with-the-pancaresurfup-consortium
#6
REVIEW
Roderick Skinner, Renee L Mulder, Leontien C Kremer, Melissa M Hudson, Louis S Constine, Edit Bardi, Annelies Boekhout, Anja Borgmann-Staudt, Morven C Brown, Richard Cohn, Uta Dirksen, Alexsander Giwercman, Hiroyuki Ishiguro, Kirsi Jahnukainen, Lisa B Kenney, Jacqueline J Loonen, Lilian Meacham, Sebastian Neggers, Stephen Nussey, Cecilia Petersen, Margarett Shnorhavorian, Marry M van den Heuvel-Eibrink, Hanneke M van Santen, William H B Wallace, Daniel M Green
Treatment with chemotherapy, radiotherapy, or surgery that involves reproductive organs can cause impaired spermatogenesis, testosterone deficiency, and physical sexual dysfunction in male pubertal, adolescent, and young adult cancer survivors. Guidelines for surveillance and management of potential adverse effects could improve cancer survivors' health and quality of life. Surveillance recommendations vary considerably, causing uncertainty about optimum screening practices. This clinical practice guideline recommended by the International Late Effects of Childhood Cancer Guideline Harmonization Group in collaboration with the PanCareSurFup Consortium, developed using evidence-based methodology, critically synthesises surveillance recommendations for gonadotoxicity in male childhood, adolescent, and young adult (CAYA) cancer survivors...
February 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28214171/g-protein-based-elisa-as-a-potency-test-for-rabies-vaccines
#7
Martine Chabaud-Riou, Nadège Moreno, Fabien Guinchard, Marie Claire Nicolai, Elisabeth Niogret-Siohan, Nicolas Sève, Catherine Manin, Françoise Guinet-Morlot, Patrice Riou
The NIH test is currently used to assess the potency of rabies vaccine, a key criterion for vaccine release. This test is based on mice immunization followed by intracerebral viral challenge. As part of global efforts to reduce animal experimentation and in the framework of the development of Sanofi Pasteur next generation, highly-purified vaccine, produced without any material of human or animal origin, we developed an ELISA as an alternative to the NIH test. This ELISA is based on monoclonal antibodies recognizing specifically the native form of the viral G-protein, the major antigen that induces neutralizing antibody response to rabies virus...
February 14, 2017: Biologicals: Journal of the International Association of Biological Standardization
https://www.readbyqxmd.com/read/28213837/brief-report-meeting-the-needs-of-medically-hospitalized-adults-with-autism-a-provider-and-patient-toolkit
#8
Jocelyn Carter, Sarabeth Broder-Fingert, Ann Neumeyer, Ann Giauque, Ann Kao, Christiana Iyasere
In an effort to meet the needs of adults with autism spectrum disorder (ASD) while hospitalized, a team of experts and providers from Massachusetts General Hospital (MGH), MGH for Children as well as parents of individuals with ASD was sparked in 2013. This became a multidisciplinary collaborative, the MGH Autism Care Collaborative, to improve adult care for inpatients with ASD. The collaborative was created with three goals in mind: (1) to educate internal medicine adult inpatient providers and staff on the unique needs of adults with ASD when hospitalized; (2) to create ASD specific resources for internal medicine adult inpatient providers; (3) to optimize patient care from admission to discharge among adults with ASD admitted to internal medicine services...
February 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28213124/reciprocal-relationships-between-substance-use-and-disorders-and-suicidal-ideation-and-suicide-attempts-in-the-collaborative-study-of-the-genetics-of-alcoholism
#9
Arpana Agrawal, Rebecca Tillman, Richard A Grucza, Elliot C Nelson, Vivia V McCutcheon, Lauren Few, Kenneth R Conner, Michael T Lynskey, Danielle M Dick, Howard J Edenberg, Victor M Hesselbrock, John R Kramer, Samuel Kuperman, John I Nurnberger, Marc A Schuckit, Bernice Porjesz, Kathleen K Bucholz
BACKGROUND: Substance use and misuse and suicidal thoughts and behaviors tend to co-occur. The purpose of this study was to examine whether (a) suicidal ideation and attempt are related to onset of alcohol, nicotine and cannabis use and dependence; (b) early use of alcohol, nicotine and cannabis is associated with onset of suicidal ideation and attempt; and (c) whether these associations persist while controlling for covariates, such as family history of alcohol problems, major depression and other internalizing and externalizing disorders...
February 3, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28213082/-collaboration-between-nursing-teams-and-users-to-improve-the-quality-of-the-care-provision
#10
Véronique Ghadi
The place of users in the health care system has evolved towards their greater involvement in health institutions. International models have led France to recognise patients' experience and to develop a partnership with caregivers. Adapted methods favour the emergence and consideration of the opinion of those receiving the care, help to open up the debate and develop actions more in line with patients' needs.
January 2017: Soins; la Revue de Référence Infirmière
https://www.readbyqxmd.com/read/28212731/hamlet-a-protein-lipid-complex-with-broad-tumoricidal-activity
#11
REVIEW
James C S Ho, Aftab Nadeem, Catharina Svanborg
HAMLET (Human Alpha-lactalbumin Made LEthal to Tumor cells) is a tumoricidal protein-lipid complex with broad effects against cancer cells of different origin. The therapeutic potential is emphasized by a high degree of specificity for tumor tissue. Here we review early studies of HAMLET, in collaboration with the Orrenius laboratory, and some key features of the subsequent development of the HAMLET project. The early studies focused on the apoptotic response that accompanies death in HAMLET treated tumor cells and the role of mitochondria in this process...
January 15, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28212606/the-implementation-of-health-promotion-in-primary-and-community-care-a-qualitative-analysis-of-the-prescribe-vida-saludable-strategy
#12
Catalina Martinez, Gonzalo Bacigalupe, Josep M Cortada, Gonzalo Grandes, Alvaro Sanchez, Haizea Pombo, Paola Bully
BACKGROUND: The impact of lifestyle on health is undeniable and effective healthy lifestyle promotion interventions do exist. However, this is not a fundamental part of routine primary care clinical practice. We describe factors that determine changes in performance of primary health care centers involved in piloting the health promotion innovation 'Prescribe Vida Saludable' (PVS) phase II. METHODS: We engaged four primary health care centers of the Basque Healthcare Service in an action research project aimed at changing preventive health practices...
February 17, 2017: BMC Family Practice
https://www.readbyqxmd.com/read/28210295/global-impact-of-bronchiectasis-and-cystic-fibrosis
#13
REVIEW
Margarida Redondo, Holly Keyt, Raja Dhar, James D Chalmers
EDUCATIONAL AIMS: To recognise the clinical and radiological presentation of the spectrum of diseases associated with bronchiectasis.To understand variation in the aetiology, microbiology and burden of bronchiectasis and cystic fibrosis across different global healthcare systems. : Bronchiectasis is the term used to refer to dilatation of the bronchi that is usually permanent and is associated with a clinical syndrome of cough, sputum production and recurrent respiratory infections...
September 2016: Breathe
https://www.readbyqxmd.com/read/28207492/international-collaboration-including-patients-is-essential-to-develop-new-therapies-for-patients-with-myositis
#14
Ingrid E Lundberg, Jiri Vencovsky
PURPOSE OF REVIEW: To discuss the needs for international collaborations between investigators in different disciplines working with myositis and with patients with myositis. RECENT FINDINGS: Recent advances in detection of several myositis-specific autoantibodies that are associated with distinct clinical phenotypes, will enable studies in new well defined clinically homogenous subgroups of myositis This is likely to lead to development of new information on molecular pathogenesis that might be different in different myositis subgroups...
February 15, 2017: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/28204893/gastrointestinal-system-manifestations-in-juvenile-systemic-lupus-erythematosus
#15
Hafize Emine Sönmez, Asuman Nur Karhan, Ezgi Deniz Batu, Yelda Bilginer, Ersin Gümüş, Hülya Demir, Aysel Yüce, Seza Özen
Systemic lupus erythematosus (SLE) is an autoimmune disease which may involve gastrointestinal system (GIS). The aim of this study was to present GIS manifestations of pediatric SLE patients. The medical files of 69 children with SLE followed between January 2011 and January 2016 were reviewed. All fulfilled the Systemic Lupus International Collaborating Clinics criteria. All patients (≤18 years of age) with GIS manifestations were included. GIS manifestations were observed in 19 (27.5%) out of 69 SLE patients and present at the time of SLE diagnosis in 13 (68...
February 16, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28202076/developing-quality-indicators-for-physician-staffed-emergency-medical-services-a-consensus-process
#16
Helge Haugland, Marius Rehn, Pål Klepstad, Andreas Krüger
BACKGROUND: There is increasing interest for quality measurement in health care services; pre-hospital emergency medical services (EMS) included. However, attempts of measuring the quality of physician-staffed EMS (P-EMS) are scarce. The aim of this study was to develop a set of quality indicators for international P-EMS to allow quality improvement initiatives. METHODS: A four-step modified nominal group technique process (expert panel method) was used. RESULTS: The expert panel reached consensus on 26 quality indicators for P-EMS...
February 15, 2017: Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine
https://www.readbyqxmd.com/read/28198176/what-is-changing-in-the-surgical-treatment-of-gastrointestinal-stromal-tumors-after-multidisciplinary-approach-a-comprehensive-literature-s-review
#17
Belinda De Simone, Luca Ansaloni, Massimo Sartelli, Federico Coccolini, Salomone Di Saverio, Maria A Pantaleo, Maristella Saponara, Margherita Nannini, Harishine K Abongwa, Josephine A Napoli, Fausto Catena
INTRODUCTION: GIST represent the most common mesenchymal neoplasms of the gastrointestinal tract Surgery is the only curative treatment for GIST. The aim of our review is to highlight the changes in the surgical treatment of GIST after the introduction of TKI therapy in a multimodality management ( neo-adiuvant or adiuvant setting). EVIDENCE ACQUISITION: We carried out a review of the recent literature about surgical treatment of GIST according to its anatomical location and size according to PRISMA STATEMENT to systematic review...
February 14, 2017: Minerva Chirurgica
https://www.readbyqxmd.com/read/28194224/carbon-uptake-by-mature-amazon-forests-has-mitigated-amazon-nations-carbon-emissions
#18
Oliver L Phillips, Roel J W Brienen
BACKGROUND: Several independent lines of evidence suggest that Amazon forests have provided a significant carbon sink service, and also that the Amazon carbon sink in intact, mature forests may now be threatened as a result of different processes. There has however been no work done to quantify non-land-use-change forest carbon fluxes on a national basis within Amazonia, or to place these national fluxes and their possible changes in the context of the major anthropogenic carbon fluxes in the region...
December 2017: Carbon Balance and Management
https://www.readbyqxmd.com/read/28193846/protein-4-1r-exon-16-3-splice-site-activation-requires-coordination-among-tia1-pcbp1-and-rbm39-during-terminal-erythropoiesis
#19
Shu-Ching Huang, Henry S Zhang, Brian Yu, Ellen McMahon, Dan T Nguyen, Faye H Yu, Alexander C Ou, Jennie Park Ou, Edward J Benz
Exon 16 of protein 4.1R encodes a spectrin/actin-binding peptide critical for erythrocyte membrane stability. Its expression during erythroid differentiation is regulated by alternative pre-mRNA splicing. A UUUUCCCCCC-motif situated between the branch point and the 3' splice site is crucial for inclusion. We show that the "UUUU" region and the last 3 C's in this motif are necessary for the binding of splicing factors TIA1 and Pcbp1, and that these proteins appear to act in a collaborative manner to enhance exon 16 inclusion...
February 13, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28193257/bell-s-palsy-in-children-bellpic-protocol-for-a-multicentre-placebo-controlled-randomized-trial
#20
Franz E Babl, Mark T Mackay, Meredith L Borland, David W Herd, Amit Kochar, Jason Hort, Arjun Rao, John A Cheek, Jeremy Furyk, Lisa Barrow, Shane George, Michael Zhang, Kaya Gardiner, Katherine J Lee, Andrew Davidson, Robert Berkowitz, Frank Sullivan, Emily Porrello, Kim Marie Dalziel, Vicki Anderson, Ed Oakley, Sandy Hopper, Fiona Williams, Catherine Wilson, Amanda Williams, Stuart R Dalziel
BACKGROUND: Bell's palsy or acute idiopathic lower motor neurone facial paralysis is characterized by sudden onset paralysis or weakness of the muscles to one side of the face controlled by the facial nerve. While there is high level evidence in adults demonstrating an improvement in the rate of complete recovery of facial nerve function when treated with steroids compared with placebo, similar high level studies on the use of steroids in Bell's palsy in children are not available. The aim of this study is to assess the utility of steroids in Bell's palsy in children in a randomised placebo-controlled trial...
February 13, 2017: BMC Pediatrics
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