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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28187138/a-randomized-controlled-trial-of-a-group-based-gaze-training-intervention-for-children-with-developmental-coordination-disorder
#1
Greg Wood, Charlotte A L Miles, Ginny Coyles, Omid Alizadehkhaiyat, Samuel J Vine, Joan N Vickers, Mark R Wilson
: The aim of this study was to integrate a gaze training intervention (i.e., quiet eye training; QET) that has been shown to improve the throwing and catching skill of children with Developmental Coordination Disorder (DCD), within an approach (i.e., group therapy) that might alleviate the negative psychosocial impact of these motor skill deficits. Twenty-one children with DCD were split into either QET (8 male 3 female, mean age of 8.6 years (SD = 1.04) or technical training (TT) groups (7 male 3 female, mean age of 8...
2017: PloS One
https://www.readbyqxmd.com/read/28164604/linkage-analysis-based-on-four-microsatellite-markers-to-screen-for-unknown-mutation-in-families-with-wilson-disease
#2
Farzane Arianfar, Majid Fardaei
BACKGROUND: Wilson disease (WD) is a rare autosomal recessive disorder of copper metabolism due to mutations in ATP7B gene on the chromosome 13. Linkage analysis using microsatellite markers is a powerful screening technique to identify mutant chromosomes especially in affected families with unknown mutations. Previous studies in southern Iran have failed to identify mutations in the ATP7B in some clinically diagnosed cases. Hence, the present study was undertaken to provide a screening method for these WD affected families...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28153046/mitochondrial-dna-point-mutations-and-relative-copy-number-in-1363-disease-and-control-human-brains
#3
Wei Wei, Michael J Keogh, Ian Wilson, Jonathan Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akinibi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Christopher M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have been found in affected brain regions. However, there are conflicting reports describing the role of rare inherited variants and somatic point mutations in neurodegenerative disorders, and recent evidence also implicates mtDNA levels. To address these issues we studied 1363 post mortem human brains with a histopathological diagnosis of Parkinson's disease (PD), Alzheimer's disease (AD), Frontotemporal dementia - Amyotrophic Lateral Sclerosis (FTD-ALS), Creutzfeldt Jacob disease (CJD), and healthy controls...
February 2, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28145975/repeatability-and-longitudinal-assessment-of-foveal-cone-structure-in-cngb3-associated-achromatopsia
#4
Christopher S Langlo, Laura R Erker, Maria Parker, Emily J Patterson, Brian P Higgins, Phyllis Summerfelt, Moataz M Razeen, Frederick T Collison, Gerald A Fishman, Christine N Kay, Jing Zhang, Richard G Weleber, Paul Yang, Mark E Pennesi, Byron L Lam, Jeffrey D Chulay, Alfredo Dubra, William W Hauswirth, David J Wilson, Joseph Carroll
PURPOSE: Congenital achromatopsia is an autosomal recessive disease causing substantial reduction or complete absence of cone function. Although believed to be a relatively stationary disorder, questions remain regarding the stability of cone structure over time. In this study, the authors sought to assess the repeatability of and examine longitudinal changes in measurements of central cone structure in patients with achromatopsia. METHODS: Forty-one subjects with CNGB3-associated achromatopsia were imaged over a period of between 6 and 26 months using optical coherence tomography and adaptive optics scanning light ophthalmoscopy...
January 31, 2017: Retina
https://www.readbyqxmd.com/read/28144156/update-on-the-clinical-management-of-wilson-s-disease
#5
REVIEW
Peter Hedera
Wilson's disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28137880/class-i-restricted-t-cell-responses-to-a-polymorphic-peptide-in-a-gene-therapy-clinical-trial-for-%C3%AE-1-antitrypsin-deficiency
#6
Roberto Calcedo, Suryanarayan Somanathan, Qiuyue Qin, Michael R Betts, Andrew J Rech, Robert H Vonderheide, Christian Mueller, Terence R Flotte, James M Wilson
Adeno-associated virus (AAV)-mediated gene therapy is currently being pursued as a treatment for the monogenic disorder α-1-antitrypsin (AAT) deficiency. Results from phase I and II studies have shown relatively stable and dose-dependent increases in transgene-derived wild-type AAT after local intramuscular vector administration. In this report we describe the appearance of transgene-specific T-cell responses in two subjects that were part of the phase II trial. The patient with the more robust T-cell response, which was associated with a reduction in transgene expression, was characterized more thoroughly in this study...
January 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28130717/impact-of-dietary-intake-on-bone-turnover-in-patients-with-phenylalanine-hydroxylase-deficiency
#7
Kathryn E Coakley, Eric I Felner, Vin Tangpricha, Peter W F Wilson, Rani H Singh
: Phenylalanine hydroxylase (PAH) deficiency is a genetic disorder characterized by deficiency of the PAH enzyme. Patients follow a phenylalanine-restricted diet low in intact protein, and must consume synthetic medical food (MF) to supply phenylalanine-free protein. We assessed relationships between dietary intake and nutrient source (food or MF) on bone mineral density (BMD) and bone turnover markers (BTM) in PAH deficiency. Blood from 44 fasted females 11-52 years of age was analyzed for plasma phenylalanine, serum BTM [CTx (resorption), P1NP (formation)], vitamin D, and parathyroid hormone (PTH)...
January 28, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28130615/age-dependent-changes-of-cerebral-copper-metabolism-in-atp7b-knockout-mouse-model-of-wilson-s-disease-by-64-cu-cucl2-pet-ct
#8
Fang Xie, Yin Xi, Juan M Pascual, Otto Muzik, Fangyu Peng
Copper is a nutritional metal required for brain development and function. Wilson's disease (WD), or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance. The objective of this study was to explore the feasibility and use of copper-64 chloride ([(64)C]CuCl2) as a tracer for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD using an Atp7b (-/-) knockout mouse model of WD and positron emission tomography/computed tomography (PET/CT) imaging...
January 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28125081/prospective-comparison-of-the-cost-effectiveness-of-clinical-whole-exome-sequencing-with-that-of-usual-care-overwhelmingly-supports-early-use-and-reimbursement
#9
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff
PURPOSE: To undertake the first prospective cost-effectiveness study of whole-exome sequencing (WES) as an early, routine clinical test for infants with suspected monogenic disorders. METHODS: Cost data for diagnosis-related investigations and assessments were collected for a prospective, sequential clinical cohort of infants (N = 40) who underwent singleton WES in parallel to usual diagnostic care. We determined costs per patient, costs per diagnosis, and incremental costs per additional diagnosis for three alternative strategies for integrating WES into the diagnostic trajectory...
January 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28104412/features-of-the-broader-autism-phenotype-in-people-with-epilepsy-support-shared-mechanisms-between-epilepsy-and-autism-spectrum-disorder
#10
REVIEW
Annie E Richard, Ingrid E Scheffer, Sarah J Wilson
Richard, A.E., I.E. Scheffer and S.J. Wilson. Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. NEUROSCI BIOBEHAV REV 21(1) XXX-XXX, 2016. To inform on mechanisms underlying the comorbidity of epilepsy and autism spectrum disorder (ASD), we conducted meta-analyses to test whether impaired facial emotion recognition (FER) and theory of mind (ToM), key phenotypic traits of ASD, are more common in people with epilepsy (PWE) than controls...
January 16, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28103519/do-cognitive-schema-mediate-the-association-between-childhood-trauma-and-being-at-ultra-high-risk-for-psychosis
#11
E Appiah-Kusi, H L Fisher, N Petros, R Wilson, V Mondelli, P A Garety, P Mcguire, S Bhattacharyya
Exposure to childhood trauma has been associated with psychotic symptoms, being at ultra-high risk for psychosis (UHR), and psychotic disorders such as schizophrenia. Negative self-beliefs have been shown to partially mediate the relationship between childhood trauma and paranoia and have been shown to be characteristic of patients with psychosis. However, whether the association between childhood trauma and being at high risk of developing psychosis (e.g., UHR) and paranoia symptoms is mediated by altered cognitive schema is unknown and warrants investigation to inform preventive interventions...
January 6, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28096981/experience-of-mowat-wilson-syndrome-prenatal-diagnosis-for-a-chinese-family
#12
Qian Jiang, Xiaoxiao Zhang, Yinan Ma, Qi Li, Chunhua Zheng, Yuchun Yan, Zhen Zhang, Ping Xiao, Lin Su, Wei Cheng, Hong Pan, Long Li
Mowat-Wilson syndrome (MWS) is a complex developmental disorder. We report the first prenatal diagnosis provided for a family in mainland China after identifying the causal mutation for the proband. Special focus on MWS-related organs during prenatal ultrasound scan is described which is extremely important for genetic counseling of parents.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28068120/daily-associations-between-ptsd-drinking-and-self-appraised-alcohol-related-problems
#13
Sarah M Wilson, Marketa Krenek, Paul A Dennis, Samantha S Yard, Kendall C Browne, Tracy L Simpson
Alcohol dependence (AD) and posttraumatic stress disorder (PTSD) are highly comorbid, yet limited research has focused on PTSD and daily drinking as they relate to self-appraised alcohol-related problems. In treatment contexts, patients' appraisals of alcohol-related problems have implications for assessment, intervention strategies, and prognosis. This study investigated the moderating effect of within-person (daily symptoms) and between-person (overall severity) differences in PTSD on the association between daily drinking and same-day alcohol-related problems...
February 2017: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/28063467/informing-health-promotion-in-rural-men
#14
Gary M H Misan, Chloe Oosterbroek, Nathan J Wilson
Issue addressed: Despite the growth of Australian men's sheds, the body of evidence regarding the health status of members, their health concerns, interests, help- or health-seeking behaviour and their preferred format for receiving health information is limited. Methods: The study involved a cross-sectional study design with data collected from 11 rural South Australian (SA) men's sheds. The survey collected information across 5 domains: demographics; health history, status, concerns and interests; health knowledge; help-seeking behaviours and health information format preferences...
December 22, 2016: Health Promotion Journal of Australia
https://www.readbyqxmd.com/read/28007139/phenotypic-characterization-of-genetically%C3%A2-lowered-human-lipoprotein-a-levels
#15
Connor A Emdin, Amit V Khera, Pradeep Natarajan, Derek Klarin, Hong-Hee Won, Gina M Peloso, Nathan O Stitziel, Akihiro Nomura, Seyedeh M Zekavat, Alexander G Bick, Namrata Gupta, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Cristen Willer, Gonçalo R Abecasis, Janine F Felix, Ramachandran S Vasan, Eric Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Danish Saleheen, Sekar Kathiresan
BACKGROUND: Genomic analyses have suggested that the LPA gene and its associated plasma biomarker, lipoprotein(a) (Lp[a]), represent a causal risk factor for coronary heart disease (CHD). As such, lowering Lp(a) levels has emerged as a therapeutic strategy. Beyond target identification, human genetics may contribute to the development of new therapies by defining the full spectrum of beneficial and adverse consequences and by developing a dose-response curve of target perturbation. OBJECTIVES: The goal of this study was to establish the full phenotypic impact of LPA gene variation and to estimate a dose-response curve between genetically altered plasma Lp(a) and risk for CHD...
December 27, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28002663/psychiatric-disease-preceding-intracranial-tumor-diagnosis-investigating-the-association
#16
Kathryn R Tringale, Bayard R Wilson, Brian Hirshman, Tianzan Zhou, David Folsom, Marc A Norman, Igor Grant, Clark C Chen, Bob S Carter
Objective: Here, we examine rates of intracranial tumor diagnoses in patients with and without comorbid psychiatric diagnoses to better understand how psychiatric disease may alter risk profiles for brain tumor diagnosis. Methods: We used a longitudinal version of the California Office of Statewide Health Planning and Development (OSHPD) database, which includes all inpatient admissions in California from 1995 to 2010. We examined patients with confirmed hospital admissions from 1997 to 2004...
December 15, 2016: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/27988426/the-association-between-sleep-dysfunction-and-psychosis-like-experiences-among-college-students
#17
Nicole D Andorko, Vijay Mittal, Elizabeth Thompson, Danielle Denenny, Gregory Epstein, Caroline Demro, Camille Wilson, Shuyan Sun, Elizabeth A Klingaman, Jordan DeVylder, Hans Oh, Teodor T Postolache, Gloria M Reeves, Jason Schiffman
Sleep problems are prominent and pervasive clinical issues experienced by many people with psychotic disorders, often causing distress and functional impairment. Sleep problems are also related to psychosis-like experiences (PLE; non-diagnosable phenomenon such as transient perceptual disturbances, unusual thoughts, periodic suspiciousness) in epidemiological studies. Prior studies in this field have used brief measures that precluded the ability to test (1) whether risk for psychosis-like experiences are related to specific sub-types of sleep disturbance, and (2) whether sleep disturbance is specifically related to clinically significant (i...
February 2017: Psychiatry Research
https://www.readbyqxmd.com/read/27982432/spectrum-of-atp7b-mutations-and-genotype-phenotype-correlation-in-a-large-scale-chinese-patients-with-wilson-disease
#18
Nan Cheng, Huagui Wang, Weili Wu, Renmin Yang, Licheng Liu, Yongzhu Han, Liping Guo, Jiyuan Hu, Lizhi Xu, Jinyin Zhao, Yongsheng Han, Qi Liu, Kai Li, Xun Wang, Weijun Chen
Wilson disease, an inherited disorder associated with ATP7B gene, has a wide spectrum of genotypes and phenotypes. In this study, we developed a rapid multiplex PCR MassArray method for detecting 110 mutant alleles of interest, and used it to examine genomic DNA from 1222 patients and 110 healthy controls. In patients not found to have any mutation in the 110 selected alleles, PCR-Sanger sequencing was used to examine the ATP7B gene. We identified 88 mutations, including nine novel mutations. Our analyses revealed p...
December 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27928776/the-risk-of-fatty-acid-oxidation-disorders-and-organic-acidemias-in-children-with-normal-newborn-screening
#19
Callum Wilson, Detlef Knoll, Mark de Hora, Campbell Kyle, Emma Glamuzina, Dianne Webster
New Zealand has undertaken expanded newborn screening since 2006. During that period there have been no reported cases of fatty acid oxidation disorders or organic acidemias that have been diagnosed clinically that the screening programme missed. However there may have been patients that presented clinically that were not diagnosed correctly or notified.In order to investigate the false-negative screening rate a case-control study was undertaken whereby the clinical coding data and relevant medical records were reviewed for 150 controls and 525 cases...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#20
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 2016: Pharmacogenomics
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