... at the third to sixth passages were selected for subsequent experiments. Hepatolenticular degeneration, or Wilson’s disease (WD), is a disorder of copper metabolism caused by a single mutation in copper-transporting P-type ATPase (ATP7B) [ 1 ], and its incidence is increasing annually. Rapid...

... that the extent and severity of atrophy varies in phenotypes, our present cohorts were further enlarged and subdivided into neuro-WD, presenting neurological and psychiatric symptoms, and hep-WD, presenting altered liver function but absent neuropsychiatric manifestations. Wilson’s disease atrophy...

..., provided the original work is properly cited. Wilson’s disease is an autosomal-recessive disorder of copper metabolism caused by mutations in ATP7B. ¹ Impaired biliary excretion and reduced incorporation into apocaeruloplasmin leads copper to accumulate in the liver and other organs...

...   U , Schaefer   M , Ferenci   P , et al.   Clinical presentation, diagnosis and long-term outcome of Wilson’s disease: a cohort study . Gut . 2007 ; 56 : 115 – 120 . Lin   LJ , Wang   DX , Ding   NN , et al.   Comprehensive analysis on clinical features of Wilson’s...

... for pathogenicity were then also compared to the Wilson’s disease Mutation Database (WDMD) at the University of Alberta, Canada ( http://www.wilsondisease.med.ualberta.ca/database.asp ) to determine which of these SNVs with putative pathogenicity had been previously described in patients with Wilson’s disease...

... for modeling and studying many inherited human diseases. Wilson’s disease (WD) is a monogenic disorder of toxic copper accumulation caused by pathologic mutations of the ATP7B gene. WD affects multiple organs with primary manifestations in the liver and central nervous system (CNS). In order to better...

..., Escherichia coli and Klebsiella pneumonia were used for the detection of pathogenic species. In addition, a set of mutant variants of Wilson’s disease were also used for the detection of single nucleotide polymorphism (SNP) in this system. Conclusions: This strategy, utilizing streptavidin...

..., a widely used model animal for Wilson’s disease (WD), which is an autosomal recessive disorder characterized by defective hepatic copper transport that results in the accumulation of copper in the liver, kidney and central nervous system, was used ( 16–19 ). Here, we employed an HA sponge for a cell...

... skin lesion erythema gyratum repens malignancy Wilson’s disease liver failure hepatolenticular degeneration alkaline phosphatase Answers on p 251 . A 24 year old woman presented with a three week history of weight loss, thirst, polyuria, sweating, and nausea. For three days before...

... liver biopsy protocol that is a reliable and cost-effective method of diagnosing hepatic Wilson’s disease. Biopsy specimens are obtained in routine fashion, without the need for copperfree solutions or instruments. The samples are then embedded in paraffin, stained for copper and copper-associated...

... A case of chronic hepatitis with ultrastructural changes resembling alterations usually occurring in Wilson’s disease is presented in an elderly man. At the time of the diagnosis, the patient did not show clinical and laboratory data consistent with the diagnosis of Wilson’s disease. Subsequently...

... of liver from 34 patients with clinical evidence of Wilson’s disease were studied histologically. Seven had early changes ranging from slight pleomorphism of hepatocytes to fatty metamorphosis, vacuolated nuclei, and focal necrosis. Seven other specimens from cases classified as chronic active hepatitis...

... abuse from over-the-counter cold remedies containing ephedrine or pseudoephedrine) Wilson’s disease >500 mutations in the gene ATP7B ( http://www.wilsondisease.med.ualberta.ca/database.asp ) Huntington’s disease Juvenile variant of HD due to large expansion, >60...

...Oxford University Press Wilson’s disease (WD) is an autosomal recessive disorder of copper metabolism that is caused by a mutation in the gene ATP7B. Patients with WD can present with a hyperkinetic movement disorder usually consisting of dystonia and tremor. Chorea may also occur...

... in the context of obstructive sleep apnea, hypertension, sleep-related hallucinations, and Wilson’s disease. It can also be induced by a variety of medications and substances, notably alcohol. The pathophysiological basis of sleep paralysis in narcolepsy is thought to be a deficiency in the hypothalamic...

... disease, acute intermittent porphyria, functional GI disease, and inflammatory bowel disease). psychiatry GI medicine eating disorder depression weight loss hepatic encephalopathy acute intermittent porphyria coeliac disease Wilson’s disease anorexia nervosa bulimia nervosa coeliac disease...

... paracetamol hepatitis A hepatitis B alcohol alcoholic hepatitis Wilson’s disease West Haven grading of hepatic encephalopathy sepsis septicaemia hepatorenal syndrome liver transplantation acetaminophen paracetamol alcoholic hepatitis autoimmune hepatitis AIH drug induced liver disease hepatic...

... liver transplant Wilson’s disease liver regeneration acute liver failure ALF alkaline phosphatase ALP aspartate aminotransferase bilirubin ALF blood tests encephalopathy HE hepatic encephalopathy hepatic encephalopathy HE jaundice platelet count West Haven criteria hepatic encephalopathy...

..., with patients surviving into adult life. children infants liver disease neonatal cholestasis neonatal liver failure metabolic liver disease autoimmune liver disease cystic fibrosis Wilson’s disease α1 antitrypsin deficiency biliary tract disorders liver disease neonatal cholestasis neonatal diseases...

...Sanjay Saint and Vineet Chopra This chapter guides the reader on the general principles, clinical manifestations, and management of liver failure in hospitalized patients. liver failure acute hepatitis fulminant liver failure hepatopulmonary syndrome hepatitis ESLD Wilson’s disease acute...