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Wilson's and related disorders

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https://www.readbyqxmd.com/read/29163329/dystonic-dysarthria-in-wilson-disease-efficacy-of-zolpidem
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29049988/magnolia-officinalis-bark-extract-induces-depolarization-of-pacemaker-potentials-through-m2-and-m3-muscarinic-receptors-in-cultured-murine-small-intestine-interstitial-cells-of-cajal
#10
Hyun Jung Kim, Taewon Han, Yun Tai Kim, Insuk So, Byung Joo Kim
BACKGROUND: Magnolia officinalis Rehder and EH Wilson (M. officinalis) are traditional Chinese medicines widely used for gastrointestinal (GI) tract motility disorder in Asian countries. We investigated the effects of an ethanol extract of M. officinalis (MOE) on the pacemaker potentials of cultured interstitial cells of Cajal (ICCs) in vitro and its effects on GI motor functions in vivo. METHODS: We isolated ICCs from small intestines, and the whole-cell patch-clamp configuration was used to record the pacemaker potentials in cultured ICCs in vitro...
October 19, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29045771/national-trends-in-and-correlates-of-nonmedical-use-of-prescription-stimulants-nonmedical-use-frequency-and-use-disorders
#11
Beth Han, Christopher M Jones, Carlos Blanco, Wilson M Compton
OBJECTIVE: To examine national trends in and correlates of nonmedical use of prescription stimulants, nonmedical use frequency, and use disorders among individuals aged 12-64 years. METHODS: Data from 783,400 persons aged 12-64 who participated in the 2003-2014 National Surveys on Drug Use and Health (NSDUH). Descriptive analyses and bivariable and multivariable logistic regression and zero-truncated negative binomial regression models were applied. RESULTS: Our multivariable results show that among individuals aged 12-64, the national prevalence of nonmedical use of prescription stimulants in 2003-2004 was higher than in 2007-2008 and was similar to that in 2009-2011, but was lower than in 2013-2014...
October 17, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/29035174/in-male-rats-the-ability-of-central-insulin-to-suppress-glucose-production-is-impaired-by-olanzapine-whereas-glucose-uptake-is-left-intact
#12
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...
October 16, 2017: Journal of Psychiatry & Neuroscience: JPN
https://www.readbyqxmd.com/read/29032078/efficacy-and-safety-of-once-monthly-pasireotide-in-cushing-s-disease-a-12-month-clinical-trial
#13
André Lacroix, Feng Gu, Wilson Gallardo, Rosario Pivonello, Yerong Yu, Przemysław Witek, Marco Boscaro, Roberto Salvatori, Masanobu Yamada, Libuse Tauchmanova, Michael Roughton, Shoba Ravichandran, Stephan Petersenn, Beverly M K Biller, John Newell-Price
BACKGROUND: Cushing's disease is a rare debilitating endocrine disorder for which few prospective interventional studies have been done. We report results of the first phase 3 trial assessing long-acting intramuscular pasireotide in patients with Cushing's disease. METHODS: In this phase 3 clinical trial we recruited patients aged 18 years or older with persistent, recurrent, or de-novo (non-surgical candidates) Cushing's disease who had a mean urinary free cortisol (mUFC) concentration (from three 24 h samples) of 1·5-5·0 times the upper limit of normal (ULN), a normal or greater than normal morning plasma adrenocorticotropic hormone concentration, and a pituitary source of Cushing's syndrome, from 57 sites across 19 countries...
October 12, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/29031217/quality-of-life-and-burden-in-caregivers-of-youth-with-obsessive-compulsive-disorder-presenting-for-intensive-treatment
#14
Monica S Wu, Rebecca Hamblin, Joshua Nadeau, Jessica Simmons, Ashley Smith, Meredith Wilson, Stephanie Eken, Brent Small, Vicky Phares, Eric A Storch
BACKGROUND: Pediatric obsessive-compulsive disorder (OCD) is associated with deleterious familial effects; caregivers are often enmeshed in the disorder and can experience considerable burden and decreased quality of life (QoL). Consequently, this study examined burden and QoL in caregivers of youth with OCD enrolled in an intensive outpatient or partial hospitalization program. METHOD: The relationships between caregiver QoL and burden and the following variables were investigated: OCD symptom severity, functioning (youth functional impairment, general family functioning), family (family accommodation, parental relationship satisfaction, positive aspects of caregiving), and comorbid psychopathology (caregiver anxiety and depressive symptoms, youth internalizing and externalizing behaviors)...
August 30, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29025128/opioid-therapy-for-chronic-pain-overview-of-the-2017%C3%A2-us-department-of-veterans-affairs-and-us-department-of-defense-clinical-practice-guideline
#15
Jack M Rosenberg, Brandon M Bilka, Sara M Wilson, Christopher Spevak
Description: The US Department of Veterans Affairs (VA) and US Department of Defense (DoD) revised the 2010 clinical practice guideline (CPG) for the management of opioid therapy for chronic pain, considering the specific needs of the VA and DoD and new evidence regarding prescribing opioid medication for non-end-of-life-related chronic pain. This paper summarizes the major recommendations and compares them with the US Centers for Disease Control and Prevention (CDC) guideline for prescribing opioids...
September 1, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28988934/bis-choline-tetrathiomolybdate-in-patients-with-wilson-s-disease-an-open-label-multicentre-phase-2-study
#16
Karl Heinz Weiss, Frederick K Askari, Anna Czlonkowska, Peter Ferenci, Jeff M Bronstein, Danny Bega, Aftab Ala, David Nicholl, Susan Flint, Lars Olsson, Thomas Plitz, Carl Bjartmar, Michael L Schilsky
BACKGROUND: Wilson's disease is a genetic disorder in which copper accumulates in the liver, brain, and other tissues. Therapies are limited by efficacy, safety concerns, and multiple daily dosing. Bis-choline tetrathiomolybdate (WTX101) is an oral first-in-class copper-protein-binding molecule that targets hepatic intracellular copper and reduces plasma non-ceruloplasmin-bound copper (NCC) by forming tripartite complexes with albumin and increasing biliary copper excretion. We aimed to assess the efficacy and safety of WTX101 in the initial or early treatment of patients with Wilson's disease...
October 5, 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28968008/-profile-of-gastrointestinal-diseases-in-a-pediatric-gastroenterology-center-in-colombia-15-years-of-follow-up
#17
Wilson Daza, Silvana Dadan, Michelle Higuera
INTRODUCTION: The profile of gastrointestinal diseases is constantly changing globally and locally affecting suspected diagnosis and medical methods. OBJECTIVE: To establish the main diagnoses in a gastroenterology, hepatology, and pediatric nutrition unit in Bogota between 2009 and 2013, and to compare with findings from the same unit during the two prior five-year periods (1997 to 2006). MATERIALS AND METHODS: We conducted a retrospective descriptive study...
September 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28940482/a-method-to-establish-stimulus-control-and-compliance-with-instructions
#18
John G Borgen, F Charles Mace, Brenna M Cavanaugh, Kenneth Shamlian, Keith R Lit, Jillian B Wilson, Stephanie L Trauschke
We evaluated a unique procedure to establish compliance with instructions in four young children diagnosed with autism spectrum disorder (ASD) who had low levels of compliance. Our procedure included methods to establish a novel therapist as a source of positive reinforcement, reliably evoke orienting responses to the therapist, increase the number of exposures to instruction-compliance-reinforcer contingencies, and minimize the number of exposures to instruction-noncompliance-no reinforcer contingencies. We further alternated between instructions with a high probability of compliance (high-p instructions) with instructions that had a prior low probability of compliance (low-p instructions) as soon as low-p instructions lost stimulus control...
October 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28899844/a-new-lipid-formulation-of-low-dose-ibuprofen-shows-non-inferiority-to-high-dose-standard-ibuprofen-the-flare-study-flaring-arthralgia-relief-evaluation-in-episodic-flaring-knee-pain-a-randomised-double-blind-study
#19
S M A Bierma-Zeinstra, J Brew, K Stoner, R Wilson, A Kilbourn, P G Conaghan
OBJECTIVE: To investigate short-term efficacy and safety of a novel lipid ibuprofen formulation 1200 mg/day compared with standard ibuprofen 1200 mg/day and 2400 mg/day in episodic knee arthralgia/flaring pain. DESIGN: Multicentre, randomised, double-blind, 3-arm, non-inferiority trial conducted at 27 primary care centres. Adults with ≥1 knee flare episode within 12 months were recruited within 24 h of new flare with pain severity ≥5 on a 0-10 numerical rating scale (NRS)...
September 9, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28889110/european-respiratory-society-guidelines-for-the-management-of-adult-bronchiectasis
#20
Eva Polverino, Pieter C Goeminne, Melissa J McDonnell, Stefano Aliberti, Sara E Marshall, Michael R Loebinger, Marlene Murris, Rafael Cantón, Antoni Torres, Katerina Dimakou, Anthony De Soyza, Adam T Hill, Charles S Haworth, Montserrat Vendrell, Felix C Ringshausen, Dragan Subotic, Robert Wilson, Jordi Vilaró, Bjorn Stallberg, Tobias Welte, Gernot Rohde, Francesco Blasi, Stuart Elborn, Marta Almagro, Alan Timothy, Thomas Ruddy, Thomy Tonia, David Rigau, James D Chalmers
Bronchiectasis in adults is a chronic disorder associated with poor quality of life and frequent exacerbations in many patients. There have been no previous international guidelines.The European Respiratory Society guidelines for the management of adult bronchiectasis describe the appropriate investigation and treatment strategies determined by a systematic review of the literature.A multidisciplinary group representing respiratory medicine, microbiology, physiotherapy, thoracic surgery, primary care, methodology and patients considered the most relevant clinical questions (for both clinicians and patients) related to management of bronchiectasis...
September 2017: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
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