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Richard A Young

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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/28219814/biopsychosocial-pathways-linking-subjective-socioeconomic-disadvantage-to-glycemic-control-in-youths-with-type-i-diabetes
#2
Samuele Zilioli, Deborah A Ellis, Justin M Carré, Richard B Slatcher
Older adolescent and young adults (OAYA) with type 1 diabetes (T1D) living in contexts of socio-economic disadvantage (SED) suffer disproportionately from poor glycemic control and related health complications. Although SED may convey a variety of risks, it may exacerbate diabetes-related stress levels, which in turn may account for observed disparities in health outcomes. The primary goal of the present study was to investigate the relationship between subjective SED, diabetes-related perceived stress, and diurnal cortisol secretion in urban OAYA with T1D...
February 3, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28215136/protocol-and-statistical-analysis-plan-for-the-randomised-evaluation-of-active-control-of-temperature-versus-ordinary-temperature-management-reactor-trial
#3
Paul J Young, Michael J Bailey, Richard W Beasley, Ross C Freebairn, Naomi E Hammond, Frank M P van Haren, Meg L Harward, Seton J Henderson, Diane M Mackle, Colin J McArthur, Shay P McGuinness, John A Myburgh, Manoj K Saxena, Anne Turner, Steve A R Webb, Rinaldo Bellomo
BACKGROUND: Body temperature can be reduced in febrile patients in the intensive care unit using medicines and physical cooling devices, but it is not known whether systematically preventing and treating fever reduces body temperature compared with standard care. OBJECTIVE: To describe the study protocol and statistical analysis plan for the Randomised Evaluation of Active Control of Temperature versus Ordinary Temperature Management (REACTOR) trial. DESIGN, SETTING AND PARTICIPANTS: Protocol for a phase II, multicentre trial to be conducted in Australian and New Zealand ICUs admitting adult patients...
March 2017: Critical Care and Resuscitation: Journal of the Australasian Academy of Critical Care Medicine
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
#4
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/28213826/diagnostic-yield-of-ct-urography-in-the-evaluation-of-hematuria-in-young-patients-in-a-military-population
#5
Laura R Mace, Terrel L Galloway, Andrew Ma, Richard S Montgomery, Ryan C Rockhill, William W Reynolds, Robert M Marks
PURPOSE: To assess the diagnostic yield of a computed tomography urography (CTU) study in patients less than 50 years of age, who have a history of military service, and who are at increased risk of urological cancers secondary to harmful practices and work-related exposures. METHODS: 137 Consecutive patients who underwent CTU between 2012 and 2013 for new onset of hematuria were included. Initial review of the clinical interpretations of the CTU studies grouped the studies into negative and positive exams for any urological findings...
February 17, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28213374/diurnal-differences-in-risk-of-cardiac-arrhythmias-during-spontaneous-hypoglycemia-in-young-people-with-type-1-diabetes
#6
Peter Novodvorsky, Alan Bernjak, Elaine Chow, Ahmed Iqbal, Lianne Sellors, Scott Williams, Robert A Fawdry, Bhavin Parekh, Richard M Jacques, Jefferson L B Marques, Paul J Sheridan, Simon R Heller
OBJECTIVE: Hypoglycemia may exert proarrhythmogenic effects on the heart via sympathoadrenal stimulation and hypokalemia. Hypoglycemia-induced cardiac dysrhythmias are linked to the "dead-in-bed syndrome," a rare, but devastating, condition. We examined the effect of nocturnal and daytime clinical hypoglycemia on electrocardiogram (ECG) in young people with type 1 diabetes. RESEARCH DESIGN AND METHODS: Thirty-seven individuals with type 1 diabetes underwent 96 h of simultaneous ambulatory ECG and blinded continuous interstitial glucose monitoring (CGM) while symptomatic hypoglycemia was recorded...
February 17, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28212982/vision-science-and-adaptive-optics-the-state-of-the-field
#7
Susana Marcos, John S Werner, Stephen A Burns, William H Merigan, Pablo Artal, David A Atchison, Karen M Hampson, Richard Legras, Linda Lundstrom, Geungyoung Yoon, Joseph Carroll, Stacey S Choi, Nathan Doble, Adam M Dubis, Alfredo Dubra, Ann Elsner, Ravi Jonnal, Donald T Miller, Michel Paques, Hannah E Smithson, Laura K Young, Yuhua Zhang, Melanie Campbell, Jennifer Hunter, Andrew Metha, Grazyna Palczewska, Jesse Schallek, Lawrence C Sincich
Adaptive optics is a relatively new field, yet it is spreading rapidly and allows new questions to be asked about how the visual system is organized. The editors of this feature issue have posed a series of question to scientists involved in using adaptive optics in vision science. The questions are focused on three main areas. In the first we investigate the use of adaptive optics for psychophysical measurements of visual system function and for improving the optics of the eye. In the second, we look at the applications and impact of adaptive optics on retinal imaging and its promise for basic and applied research...
February 14, 2017: Vision Research
https://www.readbyqxmd.com/read/28211184/night-time-pedestrian-conspicuity-effects-of-clothing-on-drivers-eye-movements
#8
Joanne M Wood, Richard A Tyrrell, Philippe Lacherez, Alex A Black
PURPOSE: Drivers' responses and eye movements were assessed as they approached pedestrians at night in order to explore the relative conspicuity benefits of different configurations of retroreflective markings. METHODS: Eye movements were recorded using an ASL Mobile Eye (Applied Science Technologies, www.asleyetracking.com) from 14 young licensed drivers (M = 24.1 ± 6.4 years) as they drove along a closed-road circuit at night. At two locations, pedestrians walked in place facing either towards or away from the road...
March 2017: Ophthalmic & Physiological Optics: the Journal of the British College of Ophthalmic Opticians (Optometrists)
https://www.readbyqxmd.com/read/28209327/outcomes-of-total-shoulder-arthroplasty-in-patients-younger-than-65-years-a-systematic-review
#9
REVIEW
Troy A Roberson, Jared C Bentley, James T Griscom, Michael J Kissenberth, Stefan J Tolan, Richard J Hawkins, John M Tokish
BACKGROUND: Despite concerns about the longevity of total shoulder arthroplasty (TSA) in young patients, it remains an attractive option because of the absence of superior options. METHODS: A systematic review was performed using searches of PubMed, Embase, and Cochrane databases. English-language studies were identified with search terms "total shoulder arthroplasty" (title/abstract) or "shoulder replacement" (title/abstract) and "young" (title/abstract) or "under 65 years of age" (title/abstract)...
February 10, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28207729/proposed-new-industry-code-on-unhealthy-food-marketing-to-children-and-young-people-will-it-make-a-difference
#10
Boyd Swinburn, Stefanie Vandevijvere, Alistair Woodward, Andrew Hornblow, Ann Richardson, Barbara Burlingame, Barry Borman, Barry Taylor, Bernhard Breier, Bruce Arroll, Bernadette Drummond, Cameron Grant, Chris Bullen, Clare Wall, Cliona Ni Mhurchu, David Cameron-Smith, David Menkes, David Murdoch, Dee Mangin, Diana Lennon, Diana Sarfati, Doug Sellman, Elaine Rush, Faafetai Sopoaga, George Thomson, Gerry Devlin, Gillian Abel, Harvey White, Jane Coad, Janet Hoek, Jennie Connor, Jeremy Krebs, Jeroen Douwes, Jim Mann, John McCall, John Broughton, John D Potter, Les Toop, Lesley McCowan, Louise Signal, Lutz Beckert, Mark Elwood, Marlena Kruger, Mauro Farella, Michael Baker, Michael Keall, Murray Skeaff, Murray Thomson, Nick Wilson, Nicholas Chandler, Papaarangi Reid, Patricia Priest, Paul Brunton, Peter Crampton, Peter Davis, Philip Gendall, Philippa Howden-Chapman, Rachael Taylor, Richard Edwards, Robert Beaglehole, Robert Doughty, Robert Scragg, Robin Gauld, Robert McGee, Rod Jackson, Roger Hughes, Roger Mulder, Ruth Bonita, Rozanne Kruger, Sally Casswell, Sarah Derrett, Shanthi Ameratunga, Simon Denny, Simon Hales, Sue Pullon, Susan Wells, Tim Cundy, Tony Blakely
Reducing the exposure of children and young people to the marketing of unhealthy foods is a core strategy for reducing the high overweight and obesity prevalence in this population. The Advertising Standards Authority (ASA) has recently reviewed its self-regulatory codes and proposed a revised single code on advertising to children. This article evaluates the proposed code against eight criteria for an effective code, which were included in a submission to the ASA review process from over 70 New Zealand health professors...
February 17, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28198637/video-gaming-and-gaming-addiction-in-transgender-people-an-exploratory-study
#11
Jon Arcelus, Walter Pierre Bouman, Bethany Alice Jones, Christina Richards, Susana Jimenez-Murcia, Mark D Griffiths
Background There is anecdotal clinical evidence that transgender people use the online world - such as forums and online video gaming - for the purpose of experiencing their gender identity in a safe, non-threatening, non-alienating, non-stigmatizing, and non-critical environment. Aims To describe gaming behavior, degree of problematic gaming behavior and associated factors with problematic gaming in a comparatively large group of transgender people accessing transgender health services. Methods Every individual referred to a national transgender health service in the United Kingdom during a 12-month period was invited to complete a series of questionnaires to measure gaming behavior, interpersonal functioning, severity of autistic features, and anxiety and depressive symptoms...
February 15, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/28195328/visualization-of-xylem-embolism-by-x-ray-microtomography-a-direct-test-against-hydraulic-measurements
#12
Markus Nolf, Rosana Lopez, Jennifer M R Peters, Richard J Flavel, Leah S Koloadin, Iain M Young, Brendan Choat
X-ray microtomography (microCT) is becoming a valuable noninvasive tool for advancing our understanding of plant-water relations. Laboratory-based microCT systems are becoming more affordable and provide better access than synchrotron facilities. However, some systems come at the cost of comparably lower signal quality and spatial resolution than synchrotron facilities. In this study, we evaluated laboratory-based X-ray microCT imaging as a tool to nondestructively analyse hydraulic vulnerability to drought-induced embolism in a woody plant species...
February 14, 2017: New Phytologist
https://www.readbyqxmd.com/read/28195122/integrated-genomic-analyses-of-de-novo-pathways-underlying-atypical-meningiomas
#13
Akdes Serin Harmancı, Mark W Youngblood, Victoria E Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Duran, E Zeynep Erson-Omay, Leon D Kaulen, Tong Ihn Lee, Brian J Abraham, Matthias Simon, Boris Krischek, Marco Timmer, Roland Goldbrunner, S Bülent Omay, Jacob Baranoski, Burçin Baran, Geneive Carrión-Grant, Hanwen Bai, Ketu Mishra-Gorur, Johannes Schramm, Jennifer Moliterno, Alexander O Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Richard A Young, Murat Günel
Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared benign meningiomas to atypical ones. Here, we show that the majority of primary (de novo) atypical meningiomas display loss of NF2, which co-occurs either with genomic instability or recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal and a hypermethylated phenotype, mainly occupying the polycomb repressive complex 2 (PRC2) binding sites in human embryonic stem cells, thereby phenocopying a more primitive cellular state...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28193763/neurologic-involvement-in-patients-with-atypical-chediak-higashi-disease
#14
Wendy J Introne, Wendy Westbroek, Catherine A Groden, Vikas Bhambhani, Gretchen A Golas, Eva H Baker, Tanya J Lehky, Joseph Snow, Shira G Ziegler, May Christine V Malicdan, David R Adams, Heidi M Dorward, Richard A Hess, Marjan Huizing, William A Gahl, Camilo Toro
OBJECTIVE: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. METHODS: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing...
14, 2017: Neurology
https://www.readbyqxmd.com/read/28192371/somatic-mutations-in-telomerase-promoter-counterbalance-germline-loss-of-function-mutations
#15
Lindley Maryoung, Yangbo Yue, Ashley Young, Chad A Newton, Cindy Barba, Nicolai S C van Oers, Richard C Wang, Christine Kim Garcia
Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs. Here, we describe the somatic acquisition of promoter mutations in telomerase reverse transcriptase (TERT) in blood leukocytes of approximately 5% of individuals with inherited loss-of-function coding mutations in TERT or poly(A)-specific ribonuclease (PARN), another gene linked to telomerase function...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28187285/transcriptional-addiction-in-cancer
#16
REVIEW
James E Bradner, Denes Hnisz, Richard A Young
Cancer arises from genetic alterations that invariably lead to dysregulated transcriptional programs. These dysregulated programs can cause cancer cells to become highly dependent on certain regulators of gene expression. Here, we discuss how transcriptional control is disrupted by genetic alterations in cancer cells, why transcriptional dependencies can develop as a consequence of dysregulated programs, and how these dependencies provide opportunities for novel therapeutic interventions in cancer.
February 9, 2017: Cell
https://www.readbyqxmd.com/read/28186668/a-post-hoc-study-on-gene-panel-analysis-for-the-diagnosis-of-dystonia
#17
Martje E van Egmond, Coen H A Lugtenberg, Oebele F Brouwer, Maria Fiorella Contarino, Victor S C Fung, M Rebecca Heiner-Fokkema, Jacobus J van Hilten, Annemarie H van der Hout, Kathryn J Peall, Richard J Sinke, Emmanuel Roze, Corien C Verschuuren-Bemelmans, Michel A Willemsen, Nicole I Wolf, Marina A Tijssen, Tom J de Koning
BACKGROUND: Genetic disorders causing dystonia show great heterogeneity. Recent studies have suggested that next-generation sequencing techniques such as gene panel analysis can be effective in diagnosing heterogeneous conditions. The objective of this study was to investigate whether dystonia patients with a suspected genetic cause could benefit from the use of gene panel analysis. METHODS: In this post hoc study, we describe gene panel analysis results of 61 dystonia patients (mean age, 31 years; 72% young onset) in our tertiary referral center...
February 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28184313/juvenile-delinquency-welfare-justice-and-therapeutic-interventions-a-global-perspective
#18
REVIEW
Susan Young, Ben Greer, Richard Church
This review considers juvenile delinquency and justice from an international perspective. Youth crime is a growing concern. Many young offenders are also victims with complex needs, leading to a public health approach that requires a balance of welfare and justice models. However, around the world there are variable and inadequate legal frameworks and a lack of a specialist workforce. The UK and other high-income countries worldwide have established forensic child and adolescent psychiatry, a multifaceted discipline incorporating legal, psychiatric and developmental fields...
February 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/28181482/small-genomic-insertions-form-enhancers-that-misregulate-oncogenes
#19
Brian J Abraham, Denes Hnisz, Abraham S Weintraub, Nicholas Kwiatkowski, Charles H Li, Zhaodong Li, Nina Weichert-Leahey, Sunniyat Rahman, Yu Liu, Julia Etchin, Benshang Li, Shuhong Shen, Tong Ihn Lee, Jinghui Zhang, A Thomas Look, Marc R Mansour, Richard A Young
The non-coding regions of tumour cell genomes harbour a considerable fraction of total DNA sequence variation, but the functional contribution of these variants to tumorigenesis is ill-defined. Among these non-coding variants, somatic insertions are among the least well characterized due to challenges with interpreting short-read DNA sequences. Here, using a combination of Chip-seq to enrich enhancer DNA and a computational approach with multiple DNA alignment procedures, we identify enhancer-associated small insertion variants...
February 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28179273/radiation-free-alternative-donor-hct-for-fanconi-anemia-patients-results-from-a-prospective-multi-institutional-study
#20
Parinda A Mehta, Stella M Davies, Thomas Leemhuis, Kasiani Myers, Nancy A Kernan, Susan E Prockop, Andromachi Scaradavou, Richard J O'Reilly, David A Williams, Leslie Lehmann, Eva Guinan, David Margolis, K Scott Baker, Adam Lane, Farid Boulad
Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by chromosomal fragility, progressive marrow failure and cancer predisposition. Hematopoietic cell transplantation (HCT) is curative for FA-related marrow failure or leukemia, but both radiation exposure during transplant and graft-versus host disease (GVHD) may increase risk of later malignancies of the head and neck and anogenital area. In this study we tested a radiation-free conditioning regimen with a T-cell depleted graft to eliminate radiation exposure and minimize early as well as late toxicities of transplant...
February 8, 2017: Blood
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