How to Trip Rapid Review

Step 1: Select articles relevant to your search (remember the system is only optimised for single intervention studies)

Step 2: press

Step 3: review the result, and maybe amend the or if you know better! If we're unsure of the overall sentiment of the trial we will display the conclusion under the article title. We then require you to tell us what the correct sentiment is.

9,209 results for

Wilson Disease

by
...
Latest & greatest
Alerts

Export results

Use check boxes to select individual results below

SmartSearch available

Trip's SmartSearch engine has discovered connected searches & results. Click to show

2. Wilson's disease

Wilson's disease Wilson's disease - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Wilson's disease Last reviewed: February 2019 Last updated: December 2018 Summary An autosomal-recessive disease of copper accumulation and toxicity caused by a defect in an enzyme involved in the biliary excretion of excess copper. Affects up to 1 in 40,000 people. Diagnosis often missed; should be considered in patients aged 10 to 40 (...) failure severe). Neurological presentations are treated with zinc. Maintenance and pre-symptomatic therapy: zinc. If zinc-intolerant, trientine next best choice for maintenance. Definition Wilson's disease is an autosomal-recessive disease of copper accumulation and copper toxicity caused by mutations in the ATP7B gene, which is part of the biliary excretion of copper pathway. Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar

2018 BMJ Best Practice

3. Wilson's disease

Wilson's disease Wilson's disease - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Wilson's disease Last reviewed: February 2019 Last updated: December 2018 Summary An autosomal-recessive disease of copper accumulation and toxicity caused by a defect in an enzyme involved in the biliary excretion of excess copper. Affects up to 1 in 40,000 people. Diagnosis often missed; should be considered in patients aged 10 to 40 (...) failure severe). Neurological presentations are treated with zinc. Maintenance and pre-symptomatic therapy: zinc. If zinc-intolerant, trientine next best choice for maintenance. Definition Wilson's disease is an autosomal-recessive disease of copper accumulation and copper toxicity caused by mutations in the ATP7B gene, which is part of the biliary excretion of copper pathway. Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar

2017 BMJ Best Practice

4. Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. (PubMed)

Characteristics of a newly diagnosed Polish cohort of patients with neurological manifestations of Wilson disease evaluated with the Unified Wilson's Disease Rating Scale. Wilson disease is a rare genetic disorder in which impaired copper excretion results in toxic copper levels and tissue damage. Manifestations are primarily hepatic and/or neuropsychiatric, with a variety of neurological phenotypes. The aim of this study was to characterize neurological signs of Wilson disease in newly (...) diagnosed patients and to determine whether they correlated with disability, liver function, and copper metabolism.Fifty-three treatment-naïve patients recently diagnosed with Wilson disease who exhibited neurological symptoms were included. Neurological manifestations were characterized by examination in terms of symptom type and degree of neurological impairment (Unified Wilson's Disease Rating Scale [UWDRS] Part III) and correlated with degree of disability (UWDRS Part II), abnormalities in copper

Full Text available with Trip Pro

2018 BMC Neurology

5. Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease (PubMed)

Handling variability and incompleteness of biological data by flexible nets: a case study for Wilson disease Mathematical models that combine predictive accuracy with explanatory power are central to the progress of systems and synthetic biology, but the heterogeneity and incompleteness of biological data impede our ability to construct such models. Furthermore, the robustness displayed by many biological systems means that they have the flexibility to operate under a range of physiological (...) ) be employed for system optimization and model predictive control. We present FNs and illustrate their capabilities by modeling a well-established system, the dynamics of glucose consumption by a microbial population. We further demonstrate the ability of FNs to take control actions in response to genetic or metabolic perturbations. Having bench-marked the system, we then construct the first quantitative model for Wilson disease-a rare genetic disorder that impairs copper utilization in the liver. We used

Full Text available with Trip Pro

2018 NPJ systems biology and applications

6. Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. (PubMed)

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease. Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six different ATP7B mutations, including 13 novel ones [p.Ala58fs*19, p.Lys74fs*9, p.Gln281*, p.Pro350fs*12, p.Ser481

Full Text available with Trip Pro

2019 PLoS ONE

7. Trolovol (D-penicillamine) - Disease-modifying treatment of rheumatoid arthritis, Treatment of Wilson's disease

Trolovol (D-penicillamine) - Disease-modifying treatment of rheumatoid arthritis, Treatment of Wilson's disease HAS - Medical, Economic and Public Health Assessment Division 1/7 The legally binding text is the original French version T TR RA AN NS SP PA AR RE EN NC CY Y C CO OM MM MI IT TT TE EE E Opinion 23 July 2014 TROLOVOL 300 mg, film-coated tablet B/30 (CIP: 34009 320 316 9 6) Applicant: IMAXO INN D-penicillamine ATC Code (2012) M01CC01 (Specific antirheumatic agents) Reason (...) for the review Renewal of inclusion List concerned National Health Insurance (French Social Security Code L.162-17) Indications concerned "Disease-modifying treatment of rheumatoid arthritis Treatment of Wilson's disease." HAS - Medical, Economic and Public Health Assessment Division 2/7 01 ADMINISTRATIVE AND REGULATORY INFORMATION Marketing Authorisation (national) Initial date (national): 6 September 1976 validated on 17 February 1998 Prescribing and dispensing conditions/special status List I ATC

2015 Haute Autorite de sante

8. Trientine for Treatment of Wilson?s Disease

Trientine for Treatment of Wilson?s Disease Title: Trientine for Treatment of Wilson’s Disease: Clinical and Cost-Effectiveness, and Safety DATE: 10 February 2014 RESEARCH QUESTIONS 1. What is the evidence for the clinical effectiveness and safety of trientine for patients with Wilson’s disease? 2. What is the evidence for the cost-effectiveness of trientine for patients with Wilson’s disease? KEY MESSAGE One relevant systematic review and three non-randomized studies were identified regarding (...) the clinical effectiveness and safety of trientine for the treatment of Wilson’s disease. No information on cost-effectiveness was identified. METHODS A limited literature search was conducted on key resources including PubMed, The Cochrane Library (2014, Issue 1), University of York Centre for Reviews and Dissemination (CRD) databases, Canadian and major international health technology agencies, as well as a focused Internet search. No filters were applied to limit the retrieval by study type. Where

2014 Canadian Agency for Drugs and Technologies in Health - Rapid Review

9. Liver expression of a miniATP7B gene results in long-term restoration of copper homeostasis in a Wilson's disease model. (PubMed)

Liver expression of a miniATP7B gene results in long-term restoration of copper homeostasis in a Wilson's disease model. Gene therapy with an adeno-associated vector (AAV) serotype 8 encoding the human ATP7B cDNA (AAV8-ATP7B) is able to provide long-term copper metabolism correction in 6-week-old male Wilson's disease (WD) mice. However, the size of the genome (5.2 kb) surpasses the optimal packaging capacity of the vector, which resulted in low-yield production; in addition, further analyses (...) in WD female mice and in animals with a more advanced disease revealed reduced therapeutic efficacy, as compared to younger males. To improve the efficacy of the treatment, an optimized shorter AAV vector was generated, in which four out of six metal binding domains (MBD) were deleted from the ATP7B coding sequence, giving rise to the miniATP7B protein (Δ57-486-ATP7B). In contrast to AAV8-ATP7B, AAV8-miniATP7B could be produced at high titers and was able to restore copper homeostasis in 6- and 12

2019 Hepatology

10. Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease. (PubMed)

Anterior segment optical coherence tomography (AS-OCT) as a new method of detecting copper deposits forming the Kayser-Fleischer ring in patients with Wilson disease. Kayser-Fleischer ring pathognomonic for Wilson disease (WD) is formed of corneal copper deposits present predominantly within the anterior chamber angle at the Schwalbe's line. The slit-lamp assessment commonly used as a standard of care cannot detect them early enough, as the angle view is obscured by the corneal limbus. The aim

2019 Acta ophthalmologica

11. Regional morphometric abnormalities and clinical relevance in Wilson's disease. (PubMed)

Regional morphometric abnormalities and clinical relevance in Wilson's disease. Morphology builds Wilson's disease's clincal basis.To detect and quantify regional morphometric abnormalities, in terms of both volume and shape, in patients with Wilson's disease.Twenty-seven Wilson's disease patients and 24 healthy controls were enrolled. Specific brain structures, including the bilateral caudate, putamen, globus pallidus, thalamus, amygdala, hippocampus, red nucleus, and substantia nigra (SN (...) atrophy was also detected in the bilateral thalamic subregions that project to the primary motor, sensory, and premotor cortices.We found significant morphometric abnormalities of specific structures of interest in patients with Wilson's disease, both globally and locally. These morphometric abnormalities may serve as useful imaging biomarkers for Wilson's disease. © 2019 International Parkinson and Movement Disorder Society.© 2019 International Parkinson and Movement Disorder Society.

2019 Movement Disorders

12. Olfactory function and olfactory bulb volume in Wilson's disease. (PubMed)

Olfactory function and olfactory bulb volume in Wilson's disease. To evaluate the olfactory function and the olfactory bulb (OB) volume changes in Wilson's Disease (WD) patients.A prospective, controlled, single-blinded study was planned. 12 patients with WD (Group 1) and 12 healthy subjects (Group 2) were included in the study. Connecticut Chemosensory Clinical Research Center (CCCRC) test was applied to evaluate olfactory functions. OB volumes were measured with a 1.5 T General Electric Signa

2019 European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

13. Urinary Abnormalities in Children and Adolescents with Wilson Disease Before and During Treatment with D-Penicillamine. (PubMed)

Urinary Abnormalities in Children and Adolescents with Wilson Disease Before and During Treatment with D-Penicillamine. Renal abnormalities can occur at any time point during the course of Wilson disease (WD). We aimed to fill a literature gap in this respect by studying urinary abnormalities in children and adolescents with WD.This study included 60 children with WD presenting to the Pediatric Hepatology Unit, Cairo University. The following data were retrieved from patients' files including (...) respectively.Asymptomatic urinary abnormalities are present in patients with WD at any time point of the disease and during treatment with d-penicillamine. They have to be searched for, as early intervention may prevent progression to renal insufficiency.This article is protected by copyright. All rights reserved.

2019 Journal of gastroenterology and hepatology

14. Characteristics of neurological Wilson's disease with corpus callosum abnormalities. (PubMed)

Characteristics of neurological Wilson's disease with corpus callosum abnormalities. Wilson's disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (splenium). This study aimed to compare clinical features between WD-CCA and WD without corpus callosum abnormalities (WD-no-CCA).Forty-one WD patients who had markedly neurological dysfunctions were included (...) in this study. We retrospectively reviewed clinical, biochemical characteristics and MRI findings in the 41 WD patients. All patients were assessed using the Unified Wilson's Disease Rating Scale.Nine patients had corpus callosum abnormalities, 4 of 9 patients had abnormal signal in the genu and splenium, 5 of 9 patients had abnormal signal only in the splenium. WD-CCA had longer course (9.9 ± 4.0 years vs. 3.4 ± 3.6 years, p<0.01), more severe neurological dysfunctions (37.6 vs. 65.9, p<0.01) and higher

Full Text available with Trip Pro

2019 BMC Neurology

15. Primary breast cancer in a patient with Wilson disease: A case report. (PubMed)

Primary breast cancer in a patient with Wilson disease: A case report. Wilson disease (WD) is an autosomal recessive hereditary disease in which the patient usually has a reduced risk of developing cancer. In particular, with the exception of hepatocellular carcinoma and cholangiocarcinoma, the incidence of cancer is significantly lower in WD patients compared with the general population. This case study presents a rare case of WD complicated with primary breast cancer.A 40-year-old woman who

Full Text available with Trip Pro

2019 Medicine

16. The dilemma to diagnose Wilson disease by genetic testing alone. (PubMed)

The dilemma to diagnose Wilson disease by genetic testing alone. Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About sixty per cent of patients present with liver disease. WD is considered a fatal disease if undiagnosed and/or untreated but recent data indicate that disease penetrance may not be 100%.All patients underwent liver biopsy as part of the diagnostic workup. Genetic testing for ATP7B was performed by Sanger sequencing.We report on a large family (...) with caution. Even patients carrying two disease-causing mutations do not necessarily have demonstrable alteration of copper metabolism. Asymptomatic siblings diagnosed by genetic screening require further testing before initiating treatment.© 2019 The Authors. European Journal of Clinical Investigation published by John Wiley & Sons Ltd on behalf of Stichting European Society for Clinical Investigation Journal Foundation.

Full Text available with Trip Pro

2019 European journal of clinical investigation

17. Acute onset neurological symptoms in Wilson disease after traumatic, surgical or emotional events: A cross-sectional study. (PubMed)

Acute onset neurological symptoms in Wilson disease after traumatic, surgical or emotional events: A cross-sectional study. Acute onset neurological symptoms evoked by traumatic, surgical, or emotional events in Wilson disease (WD) have never been reported and its clinical characteristics are unclear.We aimed to summarize the clinical characteristics of a special WD whose neurological symptoms acutely developed after traumatic, surgical, or emotional events.Retrospective pilot study.Thirty-one

Full Text available with Trip Pro

2019 Medicine

18. Comparative effectiveness of common therapies for Wilson disease: A Systematic review and meta-analysis of controlled studies. (PubMed)

Comparative effectiveness of common therapies for Wilson disease: A Systematic review and meta-analysis of controlled studies. Wilson disease (WD) is a rare disorder of copper metabolism. The objective of this systematic review was to determine the comparative effectiveness and safety of common treatments of WD.We included WD patients of any age or stage and the study drugs D-penicillamine, zinc salts, trientine and tetrathiomolybdate. The control could be placebo, no treatment or any other

2019 Liver International

19. Value of Serum Zinc in Diagnosing and Assessing Severity of Liver Disease in Children with Wilson Disease. (PubMed)

Value of Serum Zinc in Diagnosing and Assessing Severity of Liver Disease in Children with Wilson Disease. Wilson disease (WD) is a rare inborn error of copper metabolism with diverse manifestations. There has been no study of zinc (Zn), the copper's antagonist, in WD diagnosis and severity so far. Our aims were to evaluate serum Zn in WD and its correlation with the disease severity score (revised WD index). Although the ATP7B mutation analysis is highly accurate for WD diagnosis, it may (...) not be readily available in a resource-limiting setting. We proposed a disease diagnostic score (Proposed WD diagnostic score) which incorporates serum Zn.Medical records of WD and non-WD children seen at King's College Hospital from 2005 to 2015 were reviewed for the selected parameters using the Proposed WD diagnostic score. Available serum Zn data in WD children before disease diagnosis and the calculated severity score were statistically analyzed. Diagnostic values of the Proposed WD diagnostic score

2018 Journal of Pediatric Gastroenterology and Nutrition

20. Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease (PubMed)

Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease Diagnostic whole-exome sequencing has proven highly successful in a range of rare diseases, particularly early-onset genetic conditions. In more common conditions, however, exome sequencing for diagnostic purposes remains the exception. Here we describe a patient initially diagnosed with a common, complex liver disease, nonalcoholic fatty liver disease (NAFLD), who (...) was determined to have Wilson disease (WD) upon research-related exome sequencing. The patient presented as a 14.5-yr-old adolescent with chronically elevated aminotransferases, normal ceruloplasmin, and histologic examination consistent with NAFLD with advanced fibrosis. He was enrolled in a large longitudinal study of patients with NAFLD and was found to have WD by exome sequencing performed 4 yr later. This new diagnosis, confirmed clinically by 24 h urine copper quantification, led to a change

Full Text available with Trip Pro

2018 Cold Spring Harbor Molecular Case Studies

To help you find the content you need quickly, you can filter your results via the categories on the right-hand side >>>>