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"Wilson's disease"

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https://www.readbyqxmd.com/read/28653724/probing-functional-roles-of-wilson-disease-protein-atp7b-copper-binding-domains-in-yeast
#1
Kumaravel Ponnandai Shanmugavel, Dina Petranovic, Pernilla Wittung-Stafshede
After Ctr1-mediated uptake into human cells, copper (Cu) ions are transported by the cytoplasmic Cu chaperone Atox1 to the Wilson disease protein (ATP7B) in the Golgi network. Cu transfer occurs via direct protein-protein interactions and leads to incorporation of Cu into Cu-dependent enzymes. ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologs, has six cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of activity but mechanistic studies of full-length ATP7B are limited...
June 27, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28648494/characteristics-and-prevalence-of-wilson-s-disease-a-2013-observational-population-based-study-in-france
#2
Aurélia Poujois, France Woimant, Solène Samson, Pascal Chaine, Nadège Girardot-Tinant, Philippe Tuppin
BACKGROUND AND AIMS: Only a few epidemiological studies on the incidence and prevalence of Wilson's disease (WD) have been performed to date, and the results vary widely according to the reports. The aim of the study was to investigate the prevalence, ambulatory care and treatments of patients with WD in France. METHODS: Among the 58 million general health scheme beneficiaries (86% of the French population), people managed for WD in 2013 were identified using hospitalisation diagnosis in 2011-2013 or specific long-term disease status with a 100% reimbursement for specific healthcare in 2013...
June 22, 2017: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/28642858/pathological-fracture-of-femoral-neck-leading-to-a-diagnosis-of-wilson-s-disease-a-case-report-and-review-of-literature
#3
Nishit Bhatnagar, Purushotham Lingaiah, Jeetendra Singh Lodhi, Yugal Karkhur
Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28619500/was-cavum-septum-pellucidum-the-cause-of-intractable-seizure-in-this-17-years-old-boy-with-wilson-s-disease
#4
Asifur Rahman, Saif Ul Haque, Paawan Bahadur Bhandari, Shamsul Alam
BACKGROUND: Cavum Septum Pellucidum (CSP), which are often found incidentally in a small number of populations, rarely, become symptomatic if enlarged significantly. Wilson's disease (WD) is an uncommon, autosomal recessive, inborn defect in copper metabolism characterized by abnormal accumulation of copper in various tissues, particularly in the liver and the brain. Seizure disorder, though rare both in CSP and WD, may happen in a very small percentage of patients in either of the two...
June 12, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28602929/hereditary-multiple-cerebral-cavernous-malformations-associated-with-wilson-s-disease-and-multiple-lypomatosis-case-report
#5
Belousova Olga, Okishev Dmitry, Ignatova Tatyana, Balashova Maria, Boulygina Eugene
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies...
June 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28588179/childhood-wilson-disease-bangladesh-perspective
#6
M Rukunuzzaman, A B Karim, M Nurullah, F Sultana, M W Mazumder, M A Rahman, S B Billah, F Begum, M Oliullah
Wilson's disease (WD) is an autosomal recessive disorder affecting copper metabolism causing copper induced damage to various organs. In children liver is commonly involved. Central nervous system, eyes, RBC, kidneys, brain and bones may also be affected. Aim of the study is to evaluate clinical & laboratory profile of Wilson's disease in children. This cross sectional descriptive study was conducted at the department of Paediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, from January 2011 to December, 2013...
April 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28588171/clinical-and-laboratory-predictors-of-esophageal-varices-in-children-with-chronic-liver-disease
#7
M I Hasan, M Rukunuzzaman, M Nurullah, F Sultana
Esophageal varices are a serious consequence of portal hypertension in patients with chronic liver diseases. Several studies have evaluated possible noninvasive markers of esophageal varices to reduce the number of unnecessary endoscopies in patients with chronic liver disease. Aim of this study was to identify clinical and laboratory predictors of esophageal varices in children with chronic liver disease. This cross sectional observational study was done at Pediatric Gastroenterology and Nutrition Department of Bangabandhu Sheikh Mujib Medical University, Dhaka, over a period of 6 months...
April 2017: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/28578978/modality-of-treatment-and-potential-outcome-of-wilson-disease-in-taiwan-a-population-based-longitudinal-study
#8
Chi-San Tai, Jia-Feng Wu, Huey-Ling Chen, Hong-Yuan Hsu, Mei-Hwei Chang, Yen-Hsuan Ni
BACKGROUND/PURPOSE: This study aimed to investigate the epidemiology, the preference of medication, and the potential outcome of Wilson disease in Taiwan. We aimed to provide better therapeutic options for patients with Wilson disease based on the data generated from this study. METHODS: We utilized the National Health Insurance Research Database (NHIRD), which stores clinical records of nearly 99% of Taiwan's residents. The database used is a random sample of two-million out of 23-million beneficiaries in Taiwan's NHIRD in 2005...
June 1, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28573989/evaluation-of-kayser-fleischer-ring-in-wilson-disease-by-anterior-segment-optical-coherence-tomography
#9
Mittanamalli S Sridhar, Advithi Rangaraju, Kavitha Anbarasu, Sharat Putta Reddy, Sachin Daga, Sita Jayalakshmi, Bajibhi Shaik
PURPOSE: The purpose of the study is to present anterior segment optical coherence tomography (AS-OCT) as an alternative method of evaluating Kayser-Fleischer (KF) ring in Wilson disease (WD) not only by ophthalmologists but also by other clinicians dealing with WD. MATERIALS AND METHODS: This was a retrospective case series of six WD patients with KF ring. Evaluation of KF ring was done by naked eye examination using torch light, slit lamp biomicroscopy (SL), and AS-OCT...
May 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28570328/liver-disease-and-neurology
#10
Robert N Schwendimann, Alireza Minagar
PURPOSE OF REVIEW: Neurologists often encounter patients with acute and chronic liver disease and must be aware of how these diseases can affect the nervous system. This is particularly true when evaluating patients with alterations in cognition and level of consciousness. Wilson disease, while uncommon, is a treatable condition with many neurologic and psychiatric symptoms. Neurologic disorders associated with liver disease may affect not only the brain, but also the spinal cord and peripheral nervous system...
June 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28564725/disorders-in-hepatic-copper-secretion-wilson-s-disease-and-pleomorphic-syndromes
#11
Vasiliki Lalioti, Akihito Tsubota, Ignacio V Sandoval
No abstract text is available yet for this article.
May 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28542880/suicidal-death-of-erythrocytes-in-cancer-and-its-chemotherapy-a-potential-target-in-the-treatment-of-tumor-associated-anemia
#12
REVIEW
Elisabeth Lang, Rosi Bissinger, Syed M Qadri, Florian Lang
In analogy to apoptosis of nucleated cells, erythrocytes may enter eryptosis characterized by cell shrinkage and cell membrane scrambling. Eryptotic erythrocytes are rapidly cleared from circulating blood and may adhere to the vascular wall. Stimulation of eryptosis thus impairs microcirculation and leads to anemia as soon as the loss of erythrocytes cannot be fully compensated by enhanced erythropoiesis. Signaling stimulating eryptosis includes increase of cytosolic Ca(2+) -activity, ceramide, caspases, calpain, p38-kinase, protein-kinase C, Janus-activated kinase 3, casein-kinase 1α, and cyclin-dependent kinase 4...
May 23, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28536976/memory-and-learning-dysfunction-following-copper-toxicity-biochemical-and-immunohistochemical-basis
#13
Jayantee Kalita, Vijay Kumar, Usha K Misra, Himangsu K Bora
The prototype disease of Cu toxicity in human is Wilson disease, and cognitive impairment is the presenting symptom of it. There is no study correlating Cu-induced excitotoxicity, apoptosis, and astrocytic reaction with memory dysfunction. We report excitotoxicity, apoptosis, and astrocytic reaction of the hippocampus and frontal cortex with memory dysfunction in rat model of Cu toxicity. Thirty-six rats were divided into group I (control) and group II (100 mg/kgBwt/day CuSO4 orally). Y-maze was performed for memory and learning at 0, 30, 60, and 90 days...
May 23, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28516971/salivary-biomarkers-and-proteomics-future-diagnostic-and-clinical-utilities
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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