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Wilson's and related disorders

Ruhsen Öcal, Serkan Öcal, Mahir Kırnap, Gökhan Moray, Mehmet Haberal
OBJECTIVES: Wilson disease is an autosomal, recessive, inherited disorder of copper metabolism that results in the accumulation of copper in many organs and tissues. This disease is mainly characterized by dysfunction due to copper accumulation in the liver, kidney, brain, cornea, bone, heart, and blood cells. The clinical spectrum is broad in Wilson disease. Asymptomatic Wilson disease may be present, but findings related to the involvement of an individual organ or multiple organ failure can be seen...
March 2018: Experimental and Clinical Transplantation
Elizabeth Heinrichs-Graham, Timothy J McDermott, Mackenzie S Mills, Alex I Wiesman, Yu-Ping Wang, Julia M Stephen, Vince D Calhoun, Tony W Wilson
Numerous studies connect beta oscillations in the motor cortices to volitional movement, and beta is known to be aberrant in multiple movement disorders. However, the dynamic interplay between these beta oscillations, motor performance, and spontaneous beta power (e.g., during rest) in the motor cortices remains unknown. This study utilized magnetoencephalography (MEG) to investigate these three parameters and their lifespan trajectory in 57 healthy participants aged 9-75 years old. Movement-related beta activity was imaged using a beamforming approach, and voxel time series data were extracted from the peak voxels in the primary motor cortices...
March 2, 2018: Developmental Cognitive Neuroscience
Annu Aggarwal, Mohit Bhatt
Background: Wilson disease (WD) is an inherited neurometabolic disorder that results in excessive copper deposition in the liver and the brain, affecting children and young adults. Without treatment the disease is invariably fatal. Though treatments for WD have been available since the 1950s, the disease continues to be associated with considerable morbidity and mortality because of missed diagnosis, and delayed or inadequate treatment. In this paper we survey WD-related literature in order to review recent advances in WD treatment...
2018: Tremor and Other Hyperkinetic Movements
Syeda Sara Batool Hamdani, Huma Arshad Cheema, Anjum Saeed, Hassan Suleman Malik, Tayaba Sehar
BACKGROUND: Wilson disease (WD) is one of the most common metabolic liver diseases in older children. It has a strong genetic background with autosomal recessive inheritance. WD is a multisystem disorder with predominant hepatic and neurological manifestations and variable age of presentation. The data on cardiac manifestations in children is very limited and only few adult studies are available in the literature. This study was planned to determine the frequency and spectrum of Electrocardiographic (ECG) changes in pediatric WD...
January 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Lucy Annang Ingram, Chiwoneso B Tinago, Bo Cai, Louisiana Wright Sanders, Tina Bevington, Sacoby Wilson, Kathryn M Magruder, Erik Svendsen
Psychological stressors have been observed immediately following disasters, yet less is known about the long-term effects on the mental health of vulnerable communities. In 2005, Graniteville, S.C. was ravaged by a train derailment that leaked approximately 60 tons of chlorine gas and left several people dead in the small community. The purpose of this study was to examine the mental health of Graniteville-area residents in the nine years following the train disaster using a mixed methods approach. Using the photovoice method, participants reported compromised mental health with symptoms consistent with depression, post-traumatic stress disorder, fear, and anxiety...
2018: Journal of Health Care for the Poor and Underserved
David Moreau, Anna J Wilson, Nicole S McKay, Kasey Nihill, Karen E Waldie
Learning disabilities such as dyslexia, dyscalculia and their comorbid manifestation are prevalent, affecting as much as 15% of the population. Structural neuroimaging studies have indicated that these disorders can be related to differences in white matter integrity, although findings remain disparate. In this study, we used a unique design composed of individuals with dyslexia, dyscalculia, both disorders and controls, to systematically explore differences in fractional anisotropy across groups using diffusion tensor imaging...
2018: NeuroImage: Clinical
Ilana S Hairston, Jonathan E Handelzalts, Chen Assis, Michal Kovo
Despite decades of research demonstrating the role of adult attachment styles and early mother-infant bonding in parenting behaviors and maternal mental health, these constructs have seldom been studied together. The present study aimed to investigate the relationship between attachment styles and specific bonding difficulties of mothers. In addition, as postpartum depression and childbirth-related posttraumatic stress symptoms have been associated with both constructs, we explored their possible mediation effect...
February 27, 2018: Infant Mental Health Journal
Emily Reed, Svetlana Lutsenko, Oliver Bandmann
Wilson disease (WD) is an autosomal recessive disorder of copper metabolism manifesting with hepatic, neurological and psychiatric symptoms. The limitations of the currently available therapy for WD (particularly in the management of neuropsychiatric disease), together with our limited understanding of key aspects of this illness (e.g. neurological vs hepatic presentation) justify the ongoing need to study WD in suitable animal models. Four animal models of WD have been established: the Long-Evans Cinnamon rat, the toxic-milk mouse, the Atp7b knockout mouse and the Labrador retriever...
February 23, 2018: Journal of Neurochemistry
Matthijs G Bossong, Robin Wilson, Elizabeth Appiah-Kusi, Philip McGuire, Sagnik Bhattacharyya
Background: Dysfunctional reward processing is associated with a number of psychiatric disorders, such as addiction and schizophrenia. It is thought that reward is regulated mainly by dopamine transmission in the ventral striatum. Contemporary animal models suggest that striatal dopamine concentrations and associated behaviours are related to glutamatergic functioning in the ventral hippocampus. However, in humans the association between reward-related ventral striatal response and hippocampal glutamate levels is unclear...
February 10, 2018: International Journal of Neuropsychopharmacology
Raji Ramachandran Pillai, Anand Babu Wilson, Nancy R Premkumar, Shivanand Kattimani, Haritha Sagili, Soundravally Rajendiran
Postpartum depression (PPD) is a psychiatric complication of childbirth affecting 10-20% of new mothers and has negative impact on both mother and infant. Serum lipid levels have been related to depressive disorders, but very limited literatures are available regarding the lipid levels in women with postpartum depression. The present study is aimed to examine the association of serum lipids with the development of postpartum depressive symptoms. This is a cross sectional study conducted at a tertiary care hospital in South India...
2018: PloS One
Todd B Nentwig, Diane E Wilson, Erin M Rhinehart, Judith E Grisel
Binge drinking is an increasingly common pattern of risky use associated with numerous health problems, including alcohol use disorders. Because low basal plasma levels of β-endorphin (β-E) and an increased β-E response to alcohol are evident in genetically at-risk human populations, this peptide is thought to contribute to the susceptibility for disordered drinking. Animal models suggest that the effect of β-E on consumption may be sex-dependent. Here, we studied binge-like EtOH consumption in transgenic mice possessing varying levels of β-E: wild-type controls with 100% of the peptide (β-E +/+), heterozygous mice constitutively modified to possess 50% of wild-type levels (β-E +/-) and mice entirely lacking the capacity to synthesize β-E (-/-)...
February 8, 2018: Addiction Biology
Amie R Newins, Sarah M Wilson, Tiffany A Hopkins, Kristy Straits-Troster, Harold Kudler, Patrick S Calhoun
The study investigated barriers to the utilization of Veterans Affairs (VA) health care services among female veterans who served in served in Iraq and Afghanistan, including reasons for not choosing VA health care, reasons for not seeking mental health treatment, and types of desired VA services. Female respondents to a survey assessing Operation Enduring Freedom/Operation Iraqi Freedom veterans' needs and health (N = 186) completed measures of military history, posttraumatic stress disorder, depression, barriers to VA health care, and preferences for services...
February 8, 2018: Psychological Services
Michael Lowery Wilson, Olli Tenovuo, Mika Gissler, Simo Saarijärvi
BACKGROUND: This study examined whether parental mental illness has implications for child risk for traumatic brain injuries (TBI). METHOD: Data on 60 069 Finnish children born in 1987 and their parents were examined for demographic and mental health-related variables in relationship with paediatric TBI. Altogether, 15 variables were derived from the cohort data with ICD-10 F-codes being available for mental health diagnoses for all parents. Bivariate and multivariate analyses were carried out using inpatient and outpatient diagnoses of child TBI...
January 23, 2018: Injury Prevention: Journal of the International Society for Child and Adolescent Injury Prevention
Ingrid Eshun-Wilson, Nandi Siegfried, Dickens H Akena, Dan J Stein, Ekwaro A Obuku, John A Joska
BACKGROUND: Rates of major depression among people living with HIV (PLWH) are substantially higher than those seen in the general population and this may adversely affect antiretroviral treatment outcomes. Several unique clinical and psychosocial factors may contribute to the development and persistence of depression in PLWH. Given these influences, it is unclear if antidepressant therapy is as effective for PLWH as the general population. OBJECTIVES: To assess the efficacy of antidepressant therapy for treatment of depression in PLWH...
January 22, 2018: Cochrane Database of Systematic Reviews
Alexander C Wilson, Dorothy V M Bishop
Background: It has been suggested that failure to establish cerebral lateralisation may be related to developmental language disorder (DLD). There has been weak support for any link with handedness, but more consistent reports of associations with functional brain lateralisation for language. The consistency of lateralisation across different functions may also be important. We aimed to replicate previous findings of an association between DLD and reduced laterality on a quantitative measure of hand preference (reaching across the midline) and on language laterality assessed using functional transcranial Doppler ultrasound (fTCD)...
2018: PeerJ
Li He, Kun Yu, Fanghui Lu, Jiajia Wang, Laiman N Wu, Chuntao Zhao, Qianmei Li, Xianyao Zhou, Hanmin Liu, Dezhi Mu, Mei Xin, Mengsheng Qiu, Q Richard Lu
Bergmann glia facilitate granule neuron migration during development and maintain the cerebellar organization and functional integrity. At present, molecular control of Bergmann glia specification from cerebellar radial glia is not fully understood. In this report, we show that Zeb2 (a.k.a. Sip1 or Zfhx1b), a Mowat-Wilson-syndrome-associated transcriptional regulator, is highly expressed in Bergmann glia, but hardly detectable in astrocytes in the cerebellum. The mice lacking Zeb2 in cerebellar radial glia exhibit severe deficits in Bergmann glia specification, and develop cerebellar cortical lamination dysgenesis and locomotion defects...
January 11, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Matthew T Lorincz
Copper is a required cofactor for enzymes in critical metabolic pathways. Mutations in copper metabolism genes or abnormalities in copper metabolism result in disease from copper excess or deficiency. Wilson disease (WD) is an autosomal-recessive disease caused by mutations in the ATP7B gene which encodes a copper-transporting ATPase. Over 500 different WD mutations throughout the ATP7B gene have been described, most of which are missense mutations. Mutations in both ATP7B alleles result in abnormal copper metabolism and subsequent toxic accumulation of copper...
2018: Handbook of Clinical Neurology
Daniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, Emily Sites, Dennis Bartholomew, Scott E Hickey, Kim McBride, Richard K Wilson, Peter White
Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy, and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent...
January 5, 2018: Cold Spring Harbor Molecular Case Studies
Anne Uhlmann, Jonathan C Ipser, Don Wilson, Dan J Stein
In substance use and psychotic disorders, socially problematic behaviours, such as high aggression may, in part, be explained by deficits in social cognition skills, like the detection of emotions or intentions in others. The aim of this study was to assess the magnitude of social cognition impairment and its association with aggression in individuals with methamphetamine (MA) dependence, methamphetamine-associated psychosis (MAP), and healthy controls (CTRL). A total of 20 MAP participants, 21 MA-dependent participants without psychosis, and 21 CTRL participants performed a facial morphing emotion recognition task (ERT) across four basic emotions (anger, fear, happiness and sadness) and the reading the mind in the eyes task (RMET), and completed the aggression questionnaire...
December 9, 2017: Metabolic Brain Disease
Forouzan Elyasi
Wilson's disease (WD) is a neurodegenerative disorder due to copper metabolism. Schizophrenia-like psychosis and delusional disorder are rare forms of psychiatric manifestations of WD. The lack of recognition of these signs and symptoms as being attributable to WD often leads to delays in diagnosis and management. Knowledge about relationship of the psychiatric manifestations to WD can help with the administration of adequate management aimed at both the psychiatric issues and underlying WD. The objectives of this article are to review case reports whose subject is the incorrect diagnosis of schizophrenia or schizophrenia-like syndrome in patients with WD and to detail one case of this mismanagement of the disease...
September 2017: Indian Journal of Psychological Medicine
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