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https://www.readbyqxmd.com/read/29768321/anesthetic-management-of-cesarean-delivery-for-a-parturient-with-wilson-s-disease-a-case-report
#1
Yantong Wan, Xiaoqin Jiang, Xuemei Lin
RATIONALE: Wilson's disease (WD), or hepatolenticular degeneration, is an autosomal recessive disorder with a prevalence of 1:50,000 to 1:100,000 live births. PATIENT CONCERNS: A 26-year-old primipara with WD was admitted to our hospital, due to awaiting delivery. Her main symptoms were slightly higher total bile acid (TBA) and bilateral depressed edema of lower limbs. DIAGNOSIS: She was at 38 weeks and 4 days of gestation with a 15-year history of WD, controlled with penicillamine in the past and replaced by zinc preparations from three months before pregnancy...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29766968/cortical-hyperintensities-a-rare-magnetic-resonance-imaging-finding-in-wilson-s-disease
#2
Rajesh Verma, Soumik Sarkar, Anirudda More
No abstract text is available yet for this article.
May 2018: Neurology India
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#3
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29761003/the-asymmetry-of-neural-symptoms-in-wilson-s-disease-patients-detecting-by-diffusion-tensor-imaging-resting-state-functional-mri-and-susceptibility-weighted-imaging
#4
Xiang-Xue Zhou, Xun-Hua Li, Ding-Bang Chen, Chao Wu, Li Feng, Jian-Ping Chu, Zhi-Yun Yang, Xin-Bei Li, Haolin Qin, Gui-Dian Li, Hai-Wei Huang, Ying-Ying Liang, Xiu-Ling Liang
Objective: To investigate the cause of the motor asymmetry in Wilson's disease (WD) patients using functional MRI. Methods: Fifty patients with WD and 20 age-matched healthy controls were enrolled. Neurological symptoms were scored using the modified Young Scale. All study subjects underwent diffusion tensor imaging (DTI), susceptibility-weighted imaging (SWI), and resting-state functional MRI (rs-fMRI) of the brain. Six regions of interest (ROI) were chosen. Fiber volumes between ROIs on DTI, corrected phase (CP) values on SWI, amplitude of low-frequency fluctuation (ALFF), and regional homogeneity (REHO) values on rs-fMRI were determined...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29759592/ccdc115-cdg-a-new-rare-and-misleading-inherited-cause-of-liver-disease
#5
Muriel Girard, Aurélia Poujois, Monique Fabre, Florence Lacaille, Dominique Debray, Marlène Rio, François Fenaille, Sophie Cholet, Coralie Ruel, Elizabeth Caussé, Janick Selves, Laure Bridoux-Henno, France Woimant, Thierry Dupré, Sandrine Vuillaumier-Barrot, Nathalie Seta, Laurent Alric, Pascale de Lonlay, Arnaud Bruneel
Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular trafficking and/or lumen pH acidification. Here, we report 3 new unrelated cases of CCDC115-CDG with emphasis on diagnosis difficulties related to strong phenotypic similarities with mitochondriopathies, Niemann-Pick disease C and Wilson Disease. Indeed, while two individuals clinically presented with early and severe liver fibrosis and cirrhosis associated with neurological symptoms, the other one "only" showed isolated and late severe liver involvement...
May 9, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29752569/widespread-expression-of-perilipin-5-in-normal-human-tissues-and-in-diseases-is-restricted-to-distinct-lipid-droplet-subpopulations
#6
Merita Hashani, Hagen Roland Witzel, Lena Maria Pawella, Judith Lehmann-Koch, Jens Schumacher, Gunhild Mechtersheimer, Martina Schnölzer, Peter Schirmacher, Wilfried Roth, Beate Katharina Straub
Diseases associated with the accumulation of lipid droplets are increasing in western countries. Lipid droplet biogenesis, structure and degradation are regulated by proteins of the perilipin family. Perilipin 5 has been shown to regulate basal lipolysis in oxidative tissues. We examine perilipin 5 in normal human tissues and in diseases using protein biochemical and microscopic techniques. Perilipin 5 was constitutively located at small lipid droplets in skeletal myocytes, cardiomyocytes and brown adipocytes...
May 11, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29737252/does-ceruloplasmin-defend-against-neurodegenerative-diseases
#7
Bo Wang, Xiao-Ping Wang
Ceruloplasmin (CP) is the major copper transport protein in plasma, mainly produced by the liver. Glycosylphosphatidylinositol-linked CP (GPI-CP) is the predominant form expressed in astrocytes of the brain. A growing body of evidence has demonstrated that CP is an essential protein in body with multiple functions such as regulating the homeostasis of copper and iron ions, ferroxidase activity, oxidizing organic amines, and preventing the formation of free radicals. In addition, as an acute-phase protein, CP is induced during inflammation and infection...
May 7, 2018: Current Neuropharmacology
https://www.readbyqxmd.com/read/29732486/metallothionein-is-elevated-in-liver-and-duodenum-of-atp7b-mice
#8
Chengcheng Christine Zhang, Martin Volkmann, Sabine Tuma, Wolfgang Stremmel, Uta Merle
Different mutations in the copper transporter gene Atp7b are identified as the primary cause of Wilson's disease. These changes result in high copper concentrations especially in the liver and brain, and consequently lead to a dysfunction of these organs. The Atp7(-/-) mouse is an established animal model for Wilson's disease and characterized by an abnormal copper accumulation, a low serum oxidase activity and an increased copper excretion in urine. Metallothionein (MT) proteins are low molecular weight metal-binding proteins and essential for the zinc homeostasis but also play a role for the regulation of other metals, e...
May 7, 2018: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/29723692/a-learning-collaborative-approach-increases-specificity-of-diagnosis-of-acute-liver-failure-in-pediatric-patients
#9
Michael R Narkewicz, Simon Horslen, Regina M Hardison, Benjamin L Shneider, Norberto Rodriguez-Baez, Estella M Alonso, Vicky L Ng, Mike A Leonis, Kathleen M Loomes, David A Rudnick, Philip Rosenthal, Rene Romero, Girish C Subbarao, Ruosha Li, Steven H Belle, Robert H Squires
BACKGROUND & AIMS: Many pediatric patients with acute liver failure (PALF) do not receive a specific diagnosis (such as herpes simplex virus or Wilson disease or fatty acid oxidation defects)-they are left with an indeterminate diagnosis and are more likely to undergo liver transplantation, which is contraindicated for some disorders. Strategies to facilitate complete diagnostic testing should increase identification of specific liver diseases and might reduce liver transplantation...
April 30, 2018: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/29721562/tetrathiomolybdate-inhibits-the-reaction-of-cisplatin-with-human-copper-chaperone-atox1
#10
Yao Tian, Tiantian Fang, Siming Yuan, Yuchuan Zheng, Fabio Arnesano, Giovanni Natile, Yangzhong Liu
Cisplatin is a widely used anticancer drug in clinic, and ammonium tetrathiomolybdate ([(NH4)2MoS4], TM) is a copper chelator used in clinic for the treatment of Wilson's disease. Recently, TM has been found to enhance the therapeutic effect of cisplatin; however, the origin of this effect is not clear. Here we found that TM can inhibit the reaction of cisplatin with Cu-Atox1 and prevent the protein unfolding and aggregation induced by cisplatin. Although Ag(i) binds to Atox1 in a way similar to Cu(i)-Atox1, TM does not prevent the reaction of Ag-Atox1 with cisplatin...
May 3, 2018: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/29715505/the-exceptional-sensitivity-of-brain-mitochondria-to-copper
#11
Sabine Borchard, Francesca Bork, Tamara Rieder, Carola Eberhagen, Bastian Popper, Josef Lichtmannegger, Sabine Schmitt, Jerzy Adamski, Martin Klingenspor, Karl-Heinz Weiss, Hans Zischka
Wilson disease (WD) is characterized by a disrupted copper homeostasis resulting in dramatically increased copper levels, mainly in liver and brain. While copper damage to mitochondria is an established feature in WD livers, much less is known about such detrimental copper effects in other organs. We therefore assessed the mitochondrial sensitivity to copper in a tissue specific manner, namely of isolated rat liver, kidney, heart, and brain mitochondria. Brain mitochondria presented with exceptional copper sensitivity, as evidenced by a comparatively early membrane potential loss, profound structural changes already at low copper dose, and a dose-dependent reduced capacity to produce ATP...
April 28, 2018: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/29696053/psychological-signs-as-the-only-presentation-of-wilson-s-disease-in-an-11-year-old-boy
#12
Mehran Beiraghi Toosi, Javad Akhondian, Farah Ashraf Zadeh, Nahid Donyadideh, Asma Javid
Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum of Wilson's disease is wide and initial findings of the disease depend on the organ involved. Neurologic disorders can develop insidiously or precipitously with intention tremor, dysarthria, rigid dystonia, Parkinsonism, deterioration in school performance or behavioral changes. This article is presenting an 11-yr old boy with chief complaint of falling and upper limb spasm. He referred to the Neurology Department, Ghaem Hospital, Mashhad, northeastern Iran in 2016...
2018: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/29692820/magnetic-resonance-imaging-findings-in-diagnosis-and-prognosis-of-wilson-disease
#13
REVIEW
Mehri Salari, Emad Fayyazi, Omid Mirmosayyeb
Wilson disease (WD) is a rare autosomal recessive disorder characterized by excessive copper deposition in the body, principally in the liver and the brain. There is a wide spectrum of clinical presentations, but the most significant and basic symptoms of the disease can be divided into hepatic, neurologic, and psychiatric manifestations. Magnetic resonance imaging (MRI) provides more detailed anatomical information than computed tomography of the brain, especially of the structure of the basal ganglia and brain stem...
2018: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#14
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29674751/characterization-of-the-most-frequent-atp7b-mutation-causing-wilson-disease-in-hepatocytes-from-patient-induced-pluripotent-stem-cells
#15
Silvia Parisi, Elena V Polishchuk, Simona Allocca, Michela Ciano, Anna Musto, Maria Gallo, Lucia Perone, Giusy Ranucci, Raffaele Iorio, Roman S Polishchuk, Stefano Bonatti
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosomal compartment to support copper excretion via bile canaliculi. In heterologous or hepatoma-derived cell lines, overexpressed ATP7B-H1069Q is strongly retained in the ER and fails to move to the post-Golgi sites, resulting in toxic copper accumulation. However, this pathogenic mechanism has never been tested in patients' hepatocytes, while animal models recapitulating this form of WD are still lacking...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29668570/value-of-serum-zinc-in-diagnosing-and-assessing-severity-of-liver-disease-in-children-with-wilson-disease
#16
Palittiya Sintusek, Eirini Kyrana, Anil Dhawan
Supplemental Digital Content is available in the textABSTRACT OBJECTIVES:: 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...
April 17, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29666090/rare-case-of-chorea-hyperglycaemia-basal-ganglia-c-h-bg-syndrome
#17
Sajjad Ahmad, Priya Mohan Babu, Lavanya Shenbagaraj, Lindsay George
An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. After she was started on insulin and good glycaemic control was achieved, her abnormal movements dramatically improved. MRI of the brain showed a T1-weighted hyperintense lesion on the right basal ganglia, which is typical of chorea-hyperglycaemia-basal ganglia syndrome...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29649982/identification-and-characterization-of-a-novel-43-bp-deletion-mutation-of-the-atp7b-gene-in-a-chinese-patient-with-wilson-s-disease-a-case-report
#18
Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang, Zhengfeng Xu
BACKGROUND: Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease. CASE PRESENTATION: We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser-Fleischer rings in both corneas. Analysis of the ATP7B gene revealed compound heterozygous mutations in the proband, including the reported c...
April 12, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29644160/wilson-s-disease-expect-the-unexpected
#19
Talal El Imad, Hassan Al Moussawi, Fady G Haddad, Richard Felix, Stephen M Mulrooney
A 64-year-old woman, presented with abdominal distention, jaundice and resting tremor, was found to have liver injury and abnormal liver enzymes. A computed tomography (CT) scan of the abdomen and pelvis showed abdominopelvic ascites and signs of liver cirrhosis. An extensive liver disease workup was performed and came back negative; therefore, a liver biopsy was obtained and showed evidence of cirrhosis with elevated liver copper consistent with Wilson's disease (WD). We report a unique case of late-onset WD in which the ceruloplasmin level and 24-h urinary copper excretion were all normal...
February 8, 2018: Curēus
https://www.readbyqxmd.com/read/29625923/wilson-s-disease-a-2017-update
#20
Aurélia Poujois, France Woimant
Wilson's disease (WD) is characterised by a deleterious accumulation of copper in the liver and brain. It is one of those rare genetic disorders that benefits from effective and lifelong treatments that have dramatically transformed the prognosis of the disease. In Europe, its clinical prevalence is estimated at between 1.2 and 2/100,000 but the genetic prevalence is higher, at around 1/7000. Incomplete penetrance of the gene or the presence of modifier genes may account for the difference between the calculated genetic prevalence and the number of patients diagnosed with WD...
April 3, 2018: Clinics and Research in Hepatology and Gastroenterology
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