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Wilson's and related disorders

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https://www.readbyqxmd.com/read/28340108/cigarette-smoking-and-musculoskeletal-pain-severity-among-male-and-female-afghanistan-iraq-era-veterans
#1
Kimberly T Green, Sarah M Wilson, Paul A Dennis, Jennifer J Runnals, Rebecca A Williams, Lori A Bastian, Jean C Beckham, Eric A Dedert, Harold S Kudler, Kristy Straits-Tröster, Jennifer M Gierisch, Patrick S Calhoun
Objective.:  Cigarette smoking and musculoskeletal pain are prevalent among Department of Veterans Affairs (VA) health care system users. These conditions frequently co-occur; however, there is limited empirical information specific to Afghanistan/Iraq era veterans. The present study sought to examine gender differences in the association between cigarette smoking and moderate to severe musculoskeletal pain in US veterans with Afghanistan/Iraq era service. Methods.:  A random sample of 5,000 veterans with service after November 11, 2001, participated in a survey assessing health care needs and barriers to care...
March 14, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28303347/genome-wide-enrichment-of-damaging-de-novo-variants-in-patients-with-isolated-and-complex-congenital-diaphragmatic-hernia
#2
Mauro Longoni, Frances A High, Hongjian Qi, Maliackal P Joy, Regis Hila, Caroline M Coletti, Julia Wynn, Maria Loscertales, Linshan Shan, Carol J Bult, Jay M Wilson, Yufeng Shen, Wendy K Chung, Patricia K Donahoe
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes...
March 16, 2017: Human Genetics
https://www.readbyqxmd.com/read/28299858/psychoeducation-for-bipolar-disorder-a-discourse-analysis
#3
Lynere Wilson, Marie Crowe, Anne Scott, Cameron Lacey
Psychoeducation has become a common intervention within mental health settings. It aims to increase people's ability to manage a life with a long-term illness. For people with bipolar disorder, psychoeducation is one of a range of psychosocial interventions now considered part of contemporary mental health practice. It has taken on a 'common sense' status that results in little critique of psychoeducation practices. Using a published manual on psychoeducation and bipolar disorder as its data, Foucauldian discourse analysis was used in the present study for a critical perspective on psychoeducation in order to explore the taken-for-granted assumptions on which it is based...
March 16, 2017: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/28295414/temporal-stability-of-heavy-drinking-days-and-drinking-reductions-among-heavy-drinkers-in-the-combine-study
#4
Katie Witkiewitz, Adam D Wilson, Matthew R Pearson, Kevin A Hallgren, Daniel E Falk, Raye Z Litten, Henry R Kranzler, Karl F Mann, Deborah S Hasin, Stephanie S O'Malley, Raymond F Anton
BACKGROUND: Recently, the Food and Drug Administration (FDA) proposed to expand the options for primary endpoints in the development of medications for alcohol use disorder (AUD) to include either abstinence from alcohol or a non-abstinent outcome: no heavy drinking days (with a heavy drinking day defined as more than 3 drinks per day for women and more than 4 drinks per day for men [>3/>4 cutoff]). The FDA also suggested that 6 months would be the most appropriate length for a clinical trial to demonstrate the stability of this non-abstinent drinking outcome...
March 10, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28284465/neurological-disorders-in-liver-transplant-candidates-pathophysiology-and-clinical-assessment
#5
REVIEW
Paolo Feltracco, Annachiara Cagnin, Cristiana Carollo, Stefania Barbieri, Carlo Ori
Compromised liver function, as a consequence of acute liver insufficiency or severe chronic liver disease may be associated with various neurological syndromes, which involve both central and peripheral nervous system. Acute and severe hyperammoniemia inducing cellular metabolic alterations, prolonged state of "neuroinflammation", activation of brain microglia, accumulation of manganese and ammonia, and systemic inflammation are the main causative factors of brain damage in liver failure. The most widely recognized neurological complications of serious hepatocellular failure include hepatic encephalopathy, diffuse cerebral edema, Wilson disease, hepatic myelopathy, acquired hepatocerebral degeneration, cirrhosis-related Parkinsonism and osmotic demyelination syndrome...
February 27, 2017: Transplantation Reviews
https://www.readbyqxmd.com/read/28271041/the-cortical-signature-of-symptom-laterality-in-parkinson-s-disease
#6
Elizabeth Heinrichs-Graham, Pamela M Santamaria, Howard E Gendelman, Tony W Wilson
Patients with Parkinson's disease (PD) often present with unilateral motor symptoms that eventually spread to the other side. This symptom lateralization is diagnostically important, as it serves to distinguish PD from other motor disorders with overlapping symptom profiles. Further, recent studies have shown that the side of symptom onset is important for prognosis, as there are differences in the rate of disease progression and the incidence of secondary symptoms between right- and left-dominant (RD, LD) patients...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28265897/wilson-s-disease-in-china
#7
REVIEW
Juan-Juan Xie, Zhi-Ying Wu
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7B is the causative gene and encodes a P-type ATPase, which participates in the synthesis of holoceruloplasmin and copper excretion. Disease-causing variants of ATP7B disrupt the normal structure or function of the enzyme and cause copper deposition in multiple organs, leading to diverse clinical manifestations. Given the variety of presentations, misdiagnosis is not rare...
March 6, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28241050/physical-versus-psychological-social-stress-in-male-rats-reveals-distinct-cardiovascular-inflammatory-and-behavioral-consequences
#8
Julie E Finnell, Calliandra M Lombard, Akhila R Padi, Casey M Moffitt, L Britt Wilson, Christopher S Wood, Susan K Wood
Repeated exposure to social stress can precipitate the development of psychosocial disorders including depression and comorbid cardiovascular disease. While a major component of social stress often encompasses physical interactions, purely psychological stressors (i.e. witnessing a traumatic event) also fall under the scope of social stress. The current study determined whether the acute stress response and susceptibility to stress-related consequences differed based on whether the stressor consisted of physical versus purely psychological social stress...
2017: PloS One
https://www.readbyqxmd.com/read/28187138/a-randomized-controlled-trial-of-a-group-based-gaze-training-intervention-for-children-with-developmental-coordination-disorder
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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...
February 14, 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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