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Wilson's and related disorders

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https://www.readbyqxmd.com/read/29333343/resounding-failure-to-replicate-links-between-developmental-language-disorder-and-cerebral-lateralisation
#1
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
https://www.readbyqxmd.com/read/29326173/transcriptional-regulator-zeb2-is-essential-for-bergmann-glia-development
#2
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
https://www.readbyqxmd.com/read/29325617/wilson-disease-and-related-copper-disorders
#3
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
https://www.readbyqxmd.com/read/29305346/a-de-novo-nonsense-mutation-in-asxl3-shared-by-siblings-with-bainbridge-ropers-syndrome
#4
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
https://www.readbyqxmd.com/read/29224181/social-cognition-and-aggression-in-methamphetamine-dependence-with-and-without-a-history-of-psychosis
#5
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
https://www.readbyqxmd.com/read/29200569/misidentification-of-wilson-disease-as-schizophrenia-1998-2013-case-report-and-review
#6
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
https://www.readbyqxmd.com/read/29195590/age-differences-in-outcomes-among-patients-in-the-stimulant-abuser-groups-to-engage-in-12-step-stage-12-intervention
#7
Sharon B Garrett, Suzanne R Doyle, K Michelle Peavy, Elizabeth A Wells, Mandy D Owens, Kathy Shores-Wilson, Jessica DiCenzo, Dennis M Donovan
Emerging adults (roughly 18-29years) with substance use disorders can benefit from participation in twelve-step mutual-help organizations (TSMHO), however their attendance and participation in such groups is relatively low. Twelve-step facilitation therapies, such as the Stimulant Abuser Groups to Engage in 12-Step (STAGE-12), may increase attendance and involvement, and lead to decreased substance use. AIMS: Analyses examined whether age moderated the STAGE-12 effects on substance use and TSMHO meeting attendance and participation...
January 2018: Journal of Substance Abuse Treatment
https://www.readbyqxmd.com/read/29193443/a-review-of-sleep-disturbance-in-children-and-adolescents-with-anxiety
#8
REVIEW
Wilson J Brown, Allison K Wilkerson, Stephen J Boyd, Daniel Dewey, Franklin Mesa, Brian E Bunnell
The present review examines the relations between sleep disturbance and anxiety in children and adolescents. The review begins with a detailed discussion of normative developmental trends in sleep, and the relation between sleep quality and emotion dysregulation in children. The extant literature on sleep disturbance in clinically anxious children with a focus on subjective versus objective measures of sleep is then summarized in detail. Finally, a review of the reciprocal relationship between sleep and emotion regulation is provided...
November 28, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/29186188/effect-of-age-on-chronic-inflammation-and-responsiveness-to-bacterial-and-viral-challenges
#9
Ingrid Elisia, Vivian Lam, Elyse Hofs, Michael Yu Li, Mariah Hay, Brandon Cho, Angela Brooks-Wilson, Miriam Rosin, Luke Bu, William Jia, Gerald Krystal
To identify reliable biomarkers of age-related changes in chronic inflammation and responsiveness to bacterial and viral challenges, we evaluated endogenous and ex vivo stimulated levels of 18 inflammatory markers, using whole blood collected in EDTA and sodium heparin tubes from 41 healthy volunteers, i.e., 11 men + 10 women aged 20-35 and 10 men + 10 women aged 50-77. These studies revealed significant differences in the levels of inflammatory markers when blood was collected in EDTA versus sodium heparin and age related differences in these biomarkers were confirmed with blood collected in EDTA from 120 healthy volunteers in 3 age categories, ie, 20 men + 20 women, aged 20-35, 36-49 and 50-77...
2017: PloS One
https://www.readbyqxmd.com/read/29181760/atp7b-mutation-detection-and-pathogenicity-analysis-one-atypical-case-of-wilson-s-disease-with-adrenocortical-insufficiency
#10
Min Liu, Meifang Jin, Xuqin Chen, Bo Wan, Yue Guo, Mao Sheng, Linqi Chen, Lei Zhao, Danping Huang, Yan Li
Wilson's disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having adrenocortical insufficiency. We further screened the mutation in ATP7B by direct DNA sequencing and found compound heterozygous mutations: a known pathogenic mutation in exon8:c...
November 28, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29174765/attention-training-modulates-resting-state-neurophysiological-abnormalities-in-posttraumatic-stress-disorder
#11
Amy Badura-Brack, Timothy J McDermott, Katherine M Becker, Tara J Ryan, Maya M Khanna, Daniel S Pine, Yair Bar-Haim, Elizabeth Heinrichs-Graham, Tony W Wilson
Recent research indicates the relative benefits of computerized attention control treatment (ACT) and attention bias modification treatment (ABMT) for posttraumatic stress disorder (PTSD); however, neural changes underlying these therapeutic effects remain unknown. This study examines how these two types of attention training modulate neurological dysfunction in veterans with PTSD. A community sample of 46 combat veterans with PTSD participated in a randomized double-blinded clinical trial of ACT versus ABMT and 32 of those veterans also agreed to undergo resting-state magnetoencephalography (MEG) recordings...
January 30, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29163329/dystonic-dysarthria-in-wilson-disease-efficacy-of-zolpidem
#12
Aurélia Poujois, Michaela Pernon, Jean-Marc Trocello, France Woimant
Wilson disease (WD) is a rare genetic disorder characterized by copper overload in the liver and the brain. Neurological presentations are mainly related to the accumulation of copper in the basal ganglia, the brainstem, and the cerebellum. Dysarthria is a frequent symptom, with dystonic, spastic, or parkinsonian components and is usually resistant to medical or voice rehabilitation therapies. Here, we report the case of a patient with WD diagnosed at the age of 12, who presented a severe and constant dysarthria from dystonic origin which was unresponsive to benzodiazepines and anticholinergic drugs...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29117908/clinical-characteristics-of-primary-psychotic-disorders-with-concurrent-substance-abuse-and-substance-induced-psychotic-disorders-a-systematic-review
#13
Lorna Wilson, Attila Szigeti, Angela Kearney, Mary Clarke
BACKGROUND: Distinguishing between a primary psychotic disorder with concurrent substance abuse (PPD+SA) and a substance-induced psychotic disorder (SIPD) can be diagnostically challenging. We aimed to determine if these two diagnoses are clinically distinct, particularly in relation to psychopathology. In addition, we aimed to examine the specific clinical features of cannabis-induced psychotic disorder (CIPD) as compared to primary psychotic disorder with concurrent cannabis abuse (PPD+CA) and also to SIPD associated with any substance...
November 5, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/29098318/-wilson-s-disease-what-has-been-confirmed-in-diagnostic-and-therapy
#14
REVIEW
E-D Pfister
Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation. Presenting a broad variety of phenotypes and, thus, being a chameleon within the group of metabolic diseases, the manifold clinical symptoms of WD can include hepatologic, neurologic, and psychiatric manifestations. Early onset presentations in infancy and late-onset manifestations in adults older than 70 years of age have been described. If the typical laboratory blood test values are missing, the diagnosis of WD may be difficult and often involves a combination of different parameters...
November 2, 2017: Der Internist
https://www.readbyqxmd.com/read/29093661/syndromic-craniosynostosis-can-define-new-candidate-genes-for-suture-development-or-result-from-the-non-specifc-effects-of-pleiotropic-genes-rasopathies-and-chromatinopathies-as-examples
#15
REVIEW
Marcella Zollino, Serena Lattante, Daniela Orteschi, Silvia Frangella, Paolo N Doronzio, Ilaria Contaldo, Eugenio Mercuri, Giuseppe Marangi
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29083405/genetic-variation-and-gene-expression-across-multiple-tissues-and-developmental-stages-in-a-nonhuman-primate
#16
Anna J Jasinska, Ivette Zelaya, Susan K Service, Christine B Peterson, Rita M Cantor, Oi-Wa Choi, Joseph DeYoung, Eleazar Eskin, Lynn A Fairbanks, Scott Fears, Allison E Furterer, Yu S Huang, Vasily Ramensky, Christopher A Schmitt, Hannes Svardal, Matthew J Jorgensen, Jay R Kaplan, Diego Villar, Bronwen L Aken, Paul Flicek, Rishi Nag, Emily S Wong, John Blangero, Thomas D Dyer, Marina Bogomolov, Yoav Benjamini, George M Weinstock, Ken Dewar, Chiara Sabatti, Richard K Wilson, J David Jentsch, Wesley Warren, Giovanni Coppola, Roger P Woods, Nelson B Freimer
By analyzing multitissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalog of expression quantitative trait loci (eQTLs) in a nonhuman primate model. This catalog contains more genome-wide significant eQTLs per sample than comparable human resources and identifies sex- and age-related expression patterns. Findings include a master regulatory locus that likely has a role in immune function and a locus regulating hippocampal long noncoding RNAs (lncRNAs), whose expression correlates with hippocampal volume...
October 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29083297/in-male-rats-the-ability-of-central-insulin-to-suppress-glucose-production-is-impaired-by-olanzapine-whereas-glucose-uptake-is-left-intact
#17
Chantel Kowalchuk, Celine Teo, Virginia Wilson, Araba Chintoh, Loretta Lam, Sri Mahavir Agarwal, Adria Giacca, Gary J Remington, Margaret K Hahn
BACKGROUND: Insulin receptors are widely expressed in the brain and may represent a crossroad between metabolic and cognitive disorders. Although antipsychotics, such as olanzapine, are the cornerstone treatment for schizophrenia, they are associated with high rates of type 2 diabetes and lack efficacy for illness-related cognitive deficits. Historically, this risk of diabetes was attributed to the weight gain propensity of antipsychotics, but recent work suggests antipsychotics can have weight-independent diabetogenic effects involving unknown brain-mediated mechanisms...
November 2017: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/29059976/a-video-imu-hybrid-system-for-movement-estimation-in-infants
#18
Archana Machireddy, Jan van Santen, Jenny L Wilson, Julianne Myers, Mijna Hadders-Algra, Xubo Song
Cerebral palsy is a non-progressive neurological disorder occurring in early childhood affecting body movement and muscle control. Early identification can help improve outcome through therapy-based interventions. Absence of so-called "fidgety movements" is a strong predictor of cerebral palsy. Currently, infant limb movements captured through either video cameras or accelerometers are analyzed to identify fidgety movements. However both modalities have their limitations. Video cameras do not have the high temporal resolution needed to capture subtle movements...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29058331/a-relative-weights-comparison-of-trauma-related-shame-and-guilt-as-predictors-of-dsm-5-posttraumatic-stress-disorder-symptom-severity-among-us-veterans-and-military-members
#19
Katherine C Cunningham, Joanne L Davis, Sarah M Wilson, Patricia A Resick
OBJECTIVES: Veterans and military service members have increased risk for post-traumatic stress disorder (PTSD) and consequent problems with health, psychosocial functioning, and quality of life. In this population and others, shame and guilt have emerged as contributors to PTSD, but there is a considerable need for research that precisely demonstrates how shame and guilt are associated with PTSD. This study examined whether a) trauma-related shame predicts PTSD severity beyond the effects of trauma-related guilt and b) shame accounts for a greater proportion of variance in PTSD symptoms than guilt...
October 23, 2017: British Journal of Clinical Psychology
https://www.readbyqxmd.com/read/29050651/-movement-disorders-an-update
#20
M Béreau, C Tranchant
Movement disorders (tremor, chorea, dystonia, tics, and myoclonus) are related to basal ganglia and/or interconnected brain areas dysfunction. Clinical examination is a key point in order to characterize the abnormal movement and identify associated signs that can guide etiological approach. Iatrogenic diseases will be systematically ruled out before conducting additional investigations (brain MRI, electrophysiological studies). Wilson disease, but also other treatable metabolic and/or genetic diseases, and auto-immune diseases will be systematically considered...
October 16, 2017: La Revue de Médecine Interne
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