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"Wilson's disease"

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https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#1
M Castagnola, E Scarano, G C Passali, I Messana, T Cabras, F Iavarone, G Di Cintio, A Fiorita, E De Corso, G Paludetti
Saliva testing is a non-invasive and inexpensive test that can serve as a source of information useful for diagnosis of disease. As we enter the era of genomic technologies and -omic research, collection of saliva has increased. Recent proteomic platforms have analysed the human salivary proteome and characterised about 3000 differentially expressed proteins and peptides: in saliva, more than 90% of proteins in weight are derived from the secretion of three couples of "major" glands; all the other components are derived from minor glands, gingival crevicular fluid, mucosal exudates and oral microflora...
April 2017: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/28515472/carrier-frequency-of-wilson-s-disease-in-the-korean-population-a-dna-based-approach
#2
Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim, Eun-Hae Cho
Wilson's disease (WD) is an autosomal recessive disorder caused by ATP7B gene mutation. The frequency of WD is about 1 in 30 000 worldwide. In the present study, we screened 14 835 dried blood spots (DBSs) from asymptomatic Korean neonates and retrospectively reviewed massively parallel sequencing of 1090 control individuals to estimate carrier frequency. TaqMan real-time PCR assays were conducted to detect six mutations that account for 58.3% of mutations in Korean WD patients: c.2333G>T (p.Arg778Leu), c...
May 18, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28515413/magnetic-susceptibility-changes-in-the-basal-ganglia-and-brain-stem-of-patients-with-wilson-s-disease-evaluation-with-quantitative-susceptibility-mapping
#3
Selim Doganay, Kazim Gumus, Gonca Koc, Ayse Kacar Bayram, Mehmet Sait Dogan, Duran Arslan, Hakan Gumus, Sureyya Burcu Gorkem, Saliha Ciraci, Halil Ibrahim Serin, Abdulhakim Coskun
OBJECTIVES: Wilson's disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. METHODS: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10-22 years) and 14 age-matched controls were prospectively recruited...
May 18, 2017: Magnetic Resonance in Medical Sciences: MRMS
https://www.readbyqxmd.com/read/28507923/phenotypes-and-chronic-organ-damage-may-be-different-among-siblings-with-wilson-s-disease
#4
Shinsuke Yahata, Seitetsu Yung, Mari Mandai, Takakazu Nagahara, Daisaku Kuzume, Hiroshi Sakaeda, Shinya Wakusawa, Ayako Kato, Yasuaki Tatsumi, Koichi Kato, Hisao Hayashi, Ryohei Isaji, Yoji Sasaki, Motoyoshi Yano, Kazuhiko Hayashi, Masatoshi Ishigami, Hidemi Goto
Background and Aims: Cloning of ATP7B provided evidence that Wilson's disease is a hepatic copper toxicosis with a variety of extrahepatic complications. Affected siblings with the same genetic background and exposure to similar environmental factors may be a good model for the study of genotype-phenotype correlation. Methods: Twenty-three affected siblings in 11 families were selected from a database. The first phenotypes were determined according to the international proposal. The final types of chronic organ damage were re-evaluated for life-long management...
March 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/28504778/chorea-in-the-older-adult-a-full-blooded-answer
#5
A J Degnan, E Capek, A Bowman
Chorea is a severe, distressing, movement disorder characterised by excessive, purposeless movements of the limbs, head and orofacial muscles in a generalised and irregularly-timed fashion. In young patients, neurodegenerative (Huntington's disease) and metabolic (Wilson's disease) aetiologies are most common. In the older population, the differential widens to include genetic, structural, metabolic and pharmacological causes. We present a case of an older man who developed progressive choreoathetosis secondary to polycythaemia vera which resolved with serial venesections...
December 2016: Journal of the Royal College of Physicians of Edinburgh
https://www.readbyqxmd.com/read/28497759/long-term-challenges-and-perspectives-of-pre-adolescent-liver-disease
#6
REVIEW
Nedim Hadžić, Ulrich Baumann, Pat McKiernan, Valerie McLin, Valerio Nobili
Chronic liver disease is a growing problem that has substantial effects on public health. Many paediatric liver conditions are precursors of adult chronic liver disease, cirrhosis, and hepatocellular carcinoma. Clinical management of Wilson's disease, autoimmune liver disease, and chronic biliary disorders, such as biliary atresia, which remains the most common paediatric chronic liver disease and indication for liver transplantation, is similar in children and adults. In the past 10 or so years, paediatric hepatology has expanded into neighbouring clinical areas, such as metabolic liver diseases and systemic conditions with liver involvement...
June 2017: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28495941/pontomesencephalic-atrophy-and-postural-instability-in-wilson-disease
#7
J Kalita, S Naik, S K Bhoi, U K Misra, A Ranjan, S Kumar
BACKGROUND AND PURPOSE: The MR Parkinsonism index helps in differentiating progressive supranuclear palsy from Parkinson disease and multisystem atrophy. Pontomesencephalic involvement is common in neurologic Wilson disease, but there is no prior study evaluating the MR Parkinsonism index and its indices in Wilson disease. We report the MR Parkinsonism index and its indices in Wilson disease and correlate these changes with clinical severity and postural reflex. MATERIALS AND METHODS: Thirteen individuals with neurologic Wilson disease were included, and their clinical details, including neurologic severity, postural reflex abnormality, and location of signal changes on MR imaging, were noted...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28489149/frontal-lobes-white-matter-abnormalities-mimicking-cystic-leukodystrophy-in-wilson-s-disease
#8
Flavio Moura Rezende, Eva Rocha, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini
No abstract text is available yet for this article.
April 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28488258/optical-coherence-tomography-as-a-marker-of-neurodegeneration-in-patients-with-wilson-s-disease
#9
Ewa Langwińska-Wośko, Tomasz Litwin, Karolina Dzieżyc, Michał Karlinski, Anna Członkowska
Wilson's disease (WD) is an inherited autosomal recessive disorder that leads to pathological copper accumulation in different organs. Optical coherence tomography (OCT) is proposed as a marker of neurodegeneration in many neurological diseases. Thinning of the total retinal nerve fiber layer (RNFL) and macular thickness (Mth) examined by OCT was detected in patients with WD, especially those with brain magnetic resonance imaging changes. The aim of this study was to evaluate the relationship between OCT parameters and the progression of neurological signs measured by the Unified Wilson's Disease Rating Scale (UWDRS) in patients with WD...
May 9, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28484195/investigation-of-the-utility-of-various-diagnostic-guidelines-for-wilson-s-disease
#10
Masato Nakai, Kenichi Morikawa, Masatsugu Ohara, Naoki Kawagishi, Takaaki Izumi, Machiko Umemura, Jun Ito, Seiji Tsunematsu, Fumiyuki Sato, Takuya Sho, Goki Suda, Koji Ogawa, Naoya Sakamoto
Wilson's disease is one of many potential differential diagnoses in patients with unknown liver injury or liver cirrhosis. Many patients are diagnosed in early childhood, but rare cases may not be revealed until adulthood, and of these, most present with liver cirrhosis. While some patients can be diagnosed by the examination of serum ceruloplasmin and urinary copper levels, there are patients in whom ATP7B genetic testing and hepatic copper content measurement are indicated. Diagnostic guidelines for Wilson's disease were proposed by the American Association for the Study of Liver Diseases in 2008, the European Association for the Study of the Liver in 2012, and the Japan Society of Hepatology along with affiliated societies in 2015...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28476917/optical-coherence-tomography-of-the-kayser-fleischer-ring-an-ancillary-diagnostic-tool-for-wilson-s-disease-in-children
#11
Anubha Rathi, Brijesh Takkar, Nripen Gaur, Prafulla Kumar Maharana
This report presents anterior segment optical coherence tomography (AS-OCT) images of Kayser-Fleischer ring (KFR) in a child. The AS-OCT images highlight differential reflectivity of the KFR depending on amount of copper deposited in cornea, thus supporting the role of AS-OCT as a follow-up tool. Utility of AS-OCT for diagnosing and documenting the KFR in children otherwise uncooperative for detailed slit lamp examination is discussed.
May 5, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28472497/kayser-freischer-ring-wilson-s-disease
#12
Hiroki Matsuura, Akiko Murata, Takeru Shimazaki, Yuka Sogabe
No abstract text is available yet for this article.
May 3, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28461905/dystonic-storm-a-practical-clinical-and-video-review
#13
REVIEW
Pichet Termsarasab, Steven J Frucht
Dystonic storm is a frightening hyperkinetic movement disorder emergency. Marked, rapid exacerbation of dystonia requires prompt intervention and admission to the intensive care unit. Clinical features of dystonic storm include fever, tachycardia, tachypnea, hypertension, sweating and autonomic instability, often progressing to bulbar dysfunction with dysarthria, dysphagia and respiratory failure. It is critical to recognize early and differentiate dystonic storm from other hyperkinetic movement disorder emergencies...
2017: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/28459846/gene-expression-patterns-in-the-progression-of-canine-copper-associated-chronic-hepatitis
#14
Karen Dirksen, Bart Spee, Louis C Penning, Ted S G A M van den Ingh, Iwan A Burgener, Adrian L Watson, Marian Groot Koerkamp, Jan Rothuizen, Frank G van Steenbeek, Hille Fieten
Copper is an essential trace element, but can become toxic when present in abundance. The severe effects of copper-metabolism imbalance are illustrated by the inherited disorders Wilson disease and Menkes disease. The Labrador retriever dog breed is a novel non-rodent model for copper-storage disorders carrying mutations in genes known to be involved in copper transport. Besides disease initiation and progression of copper accumulation, the molecular mechanisms and pathways involved in progression towards copper-associated chronic hepatitis still remain unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28452067/zinc-monotherapy-for-young-children-with-presymptomatic-wilson-disease-a-multicenter-study-in-japan
#15
Keisuke Eda, Tatsuki Mizuochi, Itaru Iwama, Ayano Inui, Yuri Etani, Mariko Araki, Shinya Hara, Hideki Kumagai, Shin-Ichiro Hagiwara, Kei Murayama, Jun Murakami, Norikazu Shimizu, Hiroko Kodama, Ryosuke Yasuda, Yugo Takaki, Yushiro Yamashita
BACKGROUND AND AIM: Few studies of zinc monotherapy for presymptomatic Wilson disease have focused on young children. We therefore evaluated long-term efficacy and safety of zinc monotherapy for such children, and established benchmarks for maintenance therapy. METHODS: We retrospectively and prospectively examined children under 10 years old with presymptomatic Wilson disease who received zinc monotherapy from time of diagnosis at 12 participating pediatric centers in Japan...
April 28, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28435998/a-6-year-old-boy-with-wilson-disease-a-diagnostic-dilemma
#16
Ramaswamy Ganesh, N Suresh, T Vasanthi, Malathi Sathiyasekaran, R Thulasiraman
A 6-year-old boy presented with 2 months history of progressive abdominal distension and jaundice. He was deeply icteric with ascites, hepatosplenomegaly, hyperbilirubinemia, raised transaminases, and coagulopathy. Viral markers and slit lamp examination for Kayser-Fleischer ring were negative. Serum ceruloplasmin and 24-h urinary copper post-D-pencillamine challenge were normal. Anti-smooth muscle antibody was positive 1:20, and liver biopsy showed micronodular cirrhosis with abundant Mallory hyaline and stainable copper deposits...
March 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28433114/hepatic-features-of-wilson-disease
#17
Salih Boga, Aftab Ala, Michael L Schilsky
In Wilson disease (WD) defective AT7B function leads to biliary copper excretion and pathologic copper accumulation, particularly in liver and brain, where it induces cellular damage. Liver disease most often precedes neurologic or psychiatric manifestations. In most patients with neurologic or psychiatric symptoms there is some degree of liver disease at the time of disease presentation. Hepatic manifestations of WD can be extremely variable. Patients with clinically asymptomatic WD are often found by family screening or identified on routine laboratory testing...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433113/wilson-disease-brain-pathology
#18
Aurélia Poujois, Jacqueline Mikol, France Woimant
In Wilson disease (WD), brain cellular damage is thought to be due to copper deposition. Striatal lesions are the most characteristic lesions found in the brain of patients with neurologic symptoms, as emphasized in the initial reports of S.A.K. Wilson. WD brain lesions can be more diffuse, including in the pons, midbrain, thalamus, dentate nucleus, and, less frequently, corpus callosum and cortex. In rare cases, extensive cortical-subcortical lesions have been reported. Increased cellularity is noted in the lesions due to the proliferation of modified astrocytes named Alzheimer types of glia and specific cells, called Opalski cells, that are characteristic of WD...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433112/wilson-disease-liver-pathology
#19
Maciej Pronicki
The liver in Wilson disease may demonstrate a wide range of damage patterns. Some patients may present almost no detectable microscopic pathology, while others display lesions consistent with fulminant hepatitis or acute liver failure. Most liver biopsy specimens show moderate to severe steatosis, variable degree of portal and/or lobular inflammation, and fibrosis eventually progressing to cirrhosis. Additional findings include liver cell degeneration and ballooning, Mallory hyaline bodies, liver cell necrosis, and glycogenation of periportal hepatocytic nuclei...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#20
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
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