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https://www.readbyqxmd.com/read/28806732/loss-of-the-chromatin-modifier-kdm2aa-causes-brafv600e-independent-spontaneous-melanoma-in-zebrafish
#1
Catherine M Scahill, Zsofia Digby, Ian M Sealy, Sonia Wojciechowska, Richard J White, John E Collins, Derek L Stemple, Till Bartke, Marie E Mathers, E Elizabeth Patton, Elisabeth M Busch-Nentwich
KDM2A is a histone demethylase associated with transcriptional silencing, however very little is known about its in vivo role in development and disease. Here we demonstrate that loss of the orthologue kdm2aa in zebrafish causes widespread transcriptional disruption and leads to spontaneous melanomas at a high frequency. Fish homozygous for two independent premature stop codon alleles show reduced growth and survival, a strong male sex bias, and homozygous females exhibit a progressive oogenesis defect. kdm2aa mutant fish also develop melanomas from early adulthood onwards which are independent from mutations in braf and other common oncogenes and tumour suppressors as revealed by deep whole exome sequencing...
August 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28723227/extended-release-guanfacine-does-not-show-a-large-effect-on-tic-severity-in-children-with-chronic-tic-disorders
#2
Tanya K Murphy, Thomas V Fernandez, Barbara J Coffey, Omar Rahman, Allison Gavaletz, Camille E Hanks, Caitlin S Tillberg, Laura Ibanez Gomez, Denis G Sukhodolsky, Lily Katsovich, Lawrence Scahill
OBJECTIVE: To evaluate the tolerability, safety, and preliminary efficacy of extended-release guanfacine in children with chronic tic disorders, including Tourette's disorder (collectively referred to as CTD). METHODS: This was a multisite, 8-week, randomized, double-blind, placebo-controlled trial. The primary outcome measure was the Yale Global Tic Severity Scale (YGTSS) total score. Key secondary outcomes included the Improvement item of Clinical Global Impressions-Improvement (CGI-I) scale and the Tic Symptom Self-report (TSSR)...
July 19, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28701745/a-single-dose-randomized-controlled-proof-of-mechanism-study-of-a-novel-vasopressin-1a-receptor-antagonist-rg7713-in-high-functioning-adults-with-autism-spectrum-disorder
#3
Daniel Umbricht, Marta Del Valle Rubido, Eric Hollander, James T McCracken, Frederick Shic, Lawrence Scahill, Jana Noeldeke, Lauren Boak, Omar Khwaja, Lisa Squassante, Christophe Grundschober, Heidemarie Kletzl, Paulo Fontoura
This corrects the article DOI: 10.1038/npp.2016.232.
August 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28632204/successful-pharmacotherapy-for-the-treatment-of-severe-feeding-aversion-with-mechanistic-insights-from-cross-species-neuronal-remodeling
#4
W G Sharp, A G Allen, K H Stubbs, K K Criado, R Sanders, C E McCracken, R G Parsons, L Scahill, S L Gourley
Pediatric feeding disorders affect up to 5% of children, causing severe food intake problems that can result in serious medical and developmental outcomes. Behavioral intervention (BI) is effective in extinguishing feeding aversions, and also expert-dependent, time/labor-intensive and not well understood at a neurobiological level. Here we first conducted a double-blind, placebo-controlled trial comparing BI with BI plus d-cycloserine (DCS). DCS is a partial N-methyl-d-aspartate (NMDA) receptor agonist shown to augment extinction therapies in multiple anxiety disorders...
June 20, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28601668/developmental-and-clinical-predictors-of-comorbidity-for-youth-with-obsessive-compulsive-disorder
#5
Tara S Peris, Michelle Rozenman, R Lindsey Bergman, Susanna Chang, Joseph O'Neill, John Piacentini
OBJECTIVE: To date, few studies of childhood obsessive compulsive disorder (OCD) have been adequately powered to examine patterns and predictors of comorbidity, despite the frequency with which it occurs. We address this gap, drawing on a large sample of youth with OCD who were systematically assessed through research and clinical programs in a university-based specialty program for children and adolescents with OCD. We examine patterns of comorbidity across different epochs of development and predict specific classes of OCD (comorbidity internalizing/externalizing/both) from key demographic and clinical variables that may be useful in guiding individualized treatment...
October 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28601473/neurofilament-light-protein-in-blood-as-a-potential-biomarker-of-neurodegeneration-in-huntington-s-disease-a-retrospective-cohort-analysis
#6
Lauren M Byrne, Filipe B Rodrigues, Kaj Blennow, Alexandra Durr, Blair R Leavitt, Raymund A C Roos, Rachael I Scahill, Sarah J Tabrizi, Henrik Zetterberg, Douglas Langbehn, Edward J Wild
BACKGROUND: Blood biomarkers of neuronal damage could facilitate clinical management of and therapeutic development for Huntington's disease. We investigated whether neurofilament light protein NfL (also known as NF-L) in blood is a potential prognostic marker of neurodegeneration in patients with Huntington's disease. METHODS: We did a retrospective analysis of healthy controls and carriers of CAG expansion mutations in HTT participating in the 3-year international TRACK-HD study...
August 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28600643/a-systematic-review-and-meta-analysis-of-parent-training-for-disruptive-behavior-in-children-with-autism-spectrum-disorder
#7
REVIEW
Valentina Postorino, William G Sharp, Courtney E McCracken, Karen Bearss, T Lindsey Burrell, A Nichole Evans, Lawrence Scahill
Parent training (PT) has emerged as a promising treatment for disruptive behavior in children with autism spectrum disorder (ASD). This review summarizes the essential elements of PT for disruptive behavior in children with ASD and evaluates the available evidence for PT using both descriptive and meta-analytic procedures. We searched Medline, PsycINFO, and PubMed databases (1980-2016) in peer-reviewed journals for randomized controlled trials (RCTs) of PT for disruptive behavior in children with ASD. The systematic search of 2023 publications yielded eight RCTs involving a total of 653 participants...
June 9, 2017: Clinical Child and Family Psychology Review
https://www.readbyqxmd.com/read/28465825/investigation-of-antimicrobial-use-at-a-tertiary-care-hospital-in-southern-punjab-pakistan-using-who-methodology
#8
Muhammad Atif, Muhammad Azeem, Anum Saqib, Shane Scahill
BACKGROUND: Globally, between 20 to 50% of antimicrobial consumption is inappropriate, causing significant impact on the quality of care, cost of therapy and incidence of adverse drug reactions. The purpose of this study was to investigate the prescribing patterns and utilization of antimicrobials in ten selected wards at Bahawal Victoria Hospital (BVH), Bahawalpur, Punjab, Pakistan. METHODS: A descriptive cross-sectional study was designed using the World Health Organization (WHO) indicators for antimicrobial use...
2017: Antimicrobial Resistance and Infection Control
https://www.readbyqxmd.com/read/28422761/topological-length-of-white-matter-connections-predicts-their-rate-of-atrophy-in-premanifest-huntington-s-disease
#9
Peter McColgan, Kiran K Seunarine, Sarah Gregory, Adeel Razi, Marina Papoutsi, Jeffrey D Long, James A Mills, Eileanoir Johnson, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Julie C Stout, Rachael I Scahill, Chris A Clark, Geraint Rees, Sarah J Tabrizi, The Track-On Hd Investigators
We lack a mechanistic explanation for the stereotyped pattern of white matter loss seen in Huntington's disease (HD). While the earliest white matter changes are seen around the striatum, within the corpus callosum, and in the posterior white matter tracts, the order in which these changes occur and why these white matter connections are specifically vulnerable is unclear. Here, we use diffusion tractography in a longitudinal cohort of individuals yet to develop clinical symptoms of HD to identify a hierarchy of vulnerability, where the topological length of white matter connections between a brain area and its neighbors predicts the rate of atrophy over 24 months...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28399433/embodied-emotion-impairment-in-huntington-s-disease
#10
Iris Trinkler, Sévérine Devignevielle, Amal Achaibou, Romain V Ligneul, Pierre Brugières, Laurent Cleret de Langavant, Beatrice De Gelder, Rachael Scahill, Sophie Schwartz, Anne-Catherine Bachoud-Lévi
Theories of embodied cognition suggest that perceiving an emotion involves somatovisceral and motoric re-experiencing. Here we suggest taking such an embodied stance when looking at emotion processing deficits in patients with Huntington's Disease (HD), a neurodegenerative motor disorder. The literature on these patients' emotion recognition deficit has recently been enriched by some reports of impaired emotion expression. The goal of the study was to find out if expression deficits might be linked to a more motoric level of impairment...
March 18, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/28337041/getting-the-foundations-right-for-the-measurement-of-medication-safety-the-need-for-a-meaningful-conceptual-frame
#11
Jerome Ng, Shane Scahill, Jeff Harrison
A number of initiatives aimed at improving medication safety in and across New Zealand public hospitals have been introduced over recent years. Clinicians, policymakers and patients now want to know whether patients are safer today from medicine use than they have been in the past. The challenge has been determining exactly what should be measured. In this viewpoint, we critically examine the suitability of adverse drug events (ADE) as a primary metric for assessing the progress of medication safety improvement...
March 24, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28335777/the-reasons-why-pakistan-might-be-at-high-risk-of-crimean-congo-haemorrhagic-fever-epidemic-a-scoping-review-of-the-literature
#12
REVIEW
Muhammad Atif, Anum Saqib, Raazeyah Ikram, Muhammad Rehan Sarwar, Shane Scahill
Pakistan has faced a number of significant healthcare challenges over the past decade. In 2000, one of these events - a deadly epidemic of Crimean Congo Haemorrhagic Fever (CCHF) - struck Pakistan. The people of Pakistan are at a very high risk of acquiring CCHF, due to a number of factors which emerge from a scoping review of the literature. First, the underdeveloped healthcare system of the country is currently not prepared to cope with challenges of this nature. Healthcare professionals and medical institutes are not sufficiently equipped to properly diagnose, manage and prevent CCHF...
March 23, 2017: Virology Journal
https://www.readbyqxmd.com/read/28334888/operationalizing-compensation-over-time-in-neurodegenerative-disease
#13
Sarah Gregory, Jeffrey D Long, Stefan Klöppel, Adeel Razi, Elisa Scheller, Lora Minkova, Marina Papoutsi, James A Mills, Alexandra Durr, Blair R Leavitt, Raymund A C Roos, Julie C Stout, Rachael I Scahill, Douglas R Langbehn, Sarah J Tabrizi, Geraint Rees
No abstract text is available yet for this article.
April 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28325061/overweight-and-obese-status-in-children-with-autism-spectrum-disorder-and-disruptive-behavior
#14
Kristen K Criado, William G Sharp, Courtney E McCracken, Oana De Vinck-Baroody, Liansai Dong, Michael G Aman, Christopher J McDougle, James T McCracken, L Eugene Arnold, Carol Weitzman, John M Leventhal, Benedetto Vitiello, Lawrence Scahill
Overweight and obesity are common in pediatric populations. Children with autism spectrum disorder and disruptive behavior may be at higher risk. This study examined whether children with autism spectrum disorder and disruptive behavior are more likely to be overweight or obese than matched controls. Baseline data from medication-free children with autism spectrum disorder who participated in trials conducted by the Research Units on Pediatric Psychopharmacology Autism Network (N = 276) were compared to 544 control children from the National Health and Nutrition Examination Survey database matched on age, sex, race, parent education, and era of data collection...
March 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28294457/structural-and-functional-brain-network-correlates-of-depressive-symptoms-in-premanifest-huntington-s-disease
#15
Peter McColgan, Adeel Razi, Sarah Gregory, Kiran K Seunarine, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Rachael I Scahill, Chris A Clark, Doug R Langbehn, Geraint Rees, Sarah J Tabrizi
Depression is common in premanifest Huntington's disease (preHD) and results in significant morbidity. We sought to examine how variations in structural and functional brain networks relate to depressive symptoms in premanifest HD and healthy controls. Brain networks were constructed using diffusion tractography (70 preHD and 81 controls) and resting state fMRI (92 preHD and 94 controls) data. A sub-network associated with depression was identified in a data-driven fashion and network-based statistics was used to investigate which specific connections correlated with depression scores...
June 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28202705/moderators-and-predictors-of-response-to-behavior-therapy-for-tics-in-tourette-syndrome
#16
MULTICENTER STUDY
Denis G Sukhodolsky, Douglas W Woods, John Piacentini, Sabine Wilhelm, Alan L Peterson, Lily Katsovich, James Dziura, John T Walkup, Lawrence Scahill
OBJECTIVE: To examine moderators and predictors of response to behavior therapy for tics in children and adults with Tourette syndrome and chronic tic disorders. METHODS: Data from 2 10-week, multisite studies (1 in children and 1 in adults; total n = 248) comparing comprehensive behavioral intervention for tics (CBIT) to psychoeducation and supportive therapy (PST) were combined for moderator analyses. Participants (177 male, 71 female) had a mean age of 21.5 ± 13...
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28168210/white-matter-predicts-functional-connectivity-in-premanifest-huntington-s-disease
#17
Peter McColgan, Sarah Gregory, Adeel Razi, Kiran K Seunarine, Fatma Gargouri, Alexandra Durr, Raymund A C Roos, Blair R Leavitt, Rachael I Scahill, Chris A Clark, Sarah J Tabrizi, Geraint Rees, A Coleman, J Decolongon, M Fan, T Petkau, C Jauffret, D Justo, S Lehericy, K Nigaud, R Valabrègue, A Choonderbeek, E P T Hart, D J Hensman Moss, H Crawford, E Johnson, M Papoutsi, C Berna, R Reilmann, N Weber, J Stout, I Labuschagne, B Landwehrmeyer, M Orth, H Johnson
OBJECTIVES: The distribution of pathology in neurodegenerative disease can be predicted by the organizational characteristics of white matter in healthy brains. However, we have very little evidence for the impact these pathological changes have on brain function. Understanding any such link between structure and function is critical for understanding how underlying brain pathology influences the progressive behavioral changes associated with neurodegeneration. Here, we demonstrate such a link between structure and function in individuals with premanifest Huntington's...
February 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28120263/investigation-of-autism-spectrum-disorder-and-autistic-traits-in-an-adolescent-sample-with-anorexia-nervosa
#18
Valentina Postorino, Lawrence Scahill, Lavinia De Peppo, Laura Maria Fatta, Valeria Zanna, Maria Chiara Castiglioni, Scott Gillespie, Stefano Vicari, Luigi Mazzone
This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive-compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups. Of the 30 AN participants, only three scored above the conventional ADOS-2 threshold for ASD. The AN participants were similar to their controls on autistic trait measures, and to the ASD group on obsessive-compulsive measures, and on theory of mind ability and affect recognition measures...
January 24, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28033074/preoperative-feeding-neonates-with-cardiac-disease
#19
Carly J Scahill, Eric M Graham, Andrew M Atz, Scott M Bradley, Minoo N Kavarana, Sinai C Zyblewski
BACKGROUND: The potential for necrotizing enterocolitis (NEC) in neonates requiring cardiac surgery has contributed largely to wide feeding practice variations and a hesitation to initiate enteral feeding during the preoperative period, specifically those patients with hypoplastic left heart syndrome. METHODS: A retrospective chart review of neonates undergoing cardiac surgery at a single institution between July 2011 and July 2013 was performed. The primary objective of this study was to determine if preoperative feeding was associated with NEC in neonates requiring cardiac surgery...
January 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27995047/the-relationship-between-epilepsy-and-sexual-dysfunction-a-review-of-the-literature
#20
REVIEW
Muhammad Atif, Muhammad Rehan Sarwar, Shane Scahill
BACKGROUND AND OBJECTIVES: Regardless of the disease states that people suffer from, maintaining sexual function is an important indicator of quality of life. The objective of this review was to figure out the relationship between epilepsy, antiepileptic drugs (AEDs) and sexual dysfunction. RESULTS: In various epidemiological and clinical studies, epilepsy has been correlated with a reduction in sexual function. This sexual dysfunction is not always detected in epileptic patients until systematic efforts are put in place, as part of the assessment and treatment process...
2016: SpringerPlus
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