Abstract:
BACKGROUND & AIMS:In patients with Wilson's disease presenting with liver involvement, the correct diagnosis is often missed or delayed. The aim of this study was to find an algorithm for diagnosis of this difficult patient group. METHODS:Clinical and laboratory findings of 55 patients with Wilson's disease were evaluated at diagnosis before treatment. Presenting symptom was chronic liver disease in 17 patients, fulminant hepatic failure in 5 patients, hemolysis in 3 patients, and neurological disease in 20 patients, and 10 patients were detected by family screening (siblings). Evaluation included neurological and ophthalmologic examination, routine laboratory tests, and parameters of copper metabolism including liver copper content in 43 liver biopsy specimens. RESULTS:In the whole group, serum ceruloplasmin level was <20 mg/dL in 73%, urinary copper excretion was increased in 88%, and liver copper content was elevated in 91% at diagnosis. Kayser-Fleischer rings were detected in 55%. In contrast to patients with neurological disease (90% Kayser-Fleischer rings, 85% low ceruloplasmin), only 65% of patients presenting with liver disease were diagnosed by these typical findings. Ceruloplasmin levels were lower in patients with Kayser-Fleischer rings or with neurological disturbances than in patients without these symptoms. CONCLUSIONS:The commonly used clinical and laboratory parameters are not sufficient to exclude the diagnosis of Wilson's disease in patients with liver disease of unknown origin.
journal_name
Gastroenterologyjournal_title
Gastroenterologyauthors
Steindl P,Ferenci P,Dienes HP,Grimm G,Pabinger I,Madl C,Maier-Dobersberger T,Herneth A,Dragosics B,Meryn S,Knoflach P,Granditsch G,Gangl Adoi
10.1016/s0016-5085(97)70097-0subject
Has Abstractpub_date
1997-07-01 00:00:00pages
212-8issue
1eissn
0016-5085issn
1528-0012pii
S0016508597003296journal_volume
113pub_type
杂志文章相关文献
GASTROENTEROLOGY文献大全abstract:BACKGROUND & AIMS:We have reported that contrast echocardiography is a sensitive screening test for the hepatopulmonary syndrome (HPS). However, contrast echocardiography lacks specificity because many cirrhotic patients have positive study results with normal arterial blood gases and therefore do not fulfill criteria ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(98)70481-0
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND & AIMS:It is a challenge to deliver nucleic acids to gastrointestinal (GI) tissues due to their size and need for intracellular delivery. They are also extremely susceptible to degradation by nucleases, which are ubiquitous in the GI tract. We investigated whether ultrasound, which can permeabilize tissue th...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2017.01.002
更新日期:2017-04-01 00:00:00
abstract::Histologic or ultrastructural evidence of the ability of sucralfate to protect the gastric mucosa against ethanol injury is lacking. Therefore we analyzed morphologic and functional changes in the mucosa of 120 rats receiving, intragastrically, 2 ml of either sucralfate 500 mg/kg body wt or a control solution and 1 h ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(85)80191-8
更新日期:1985-01-01 00:00:00
abstract:BACKGROUND & AIMS:A single nucleotide polymorphism (SNP) upstream of the IL28B gene has been associated with response of patients with chronic hepatitis C to therapy with pegylated interferon and ribavirin and also with spontaneous clearance of acute hepatitis C in a heterogeneous population. We analyzed the associatio...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2010.07.005
更新日期:2010-11-01 00:00:00
abstract::Ethanol (10 or 15% in the drinking water) was found to increase the amount of collagen in the livers of rats receiving a cirrhogenic diet. This effect of ethanol was most striking in the animals receiving 10% ethanol. Ethanol lowered the amount of labeled proline incorporated into hydroxyproline and, therefore, into c...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1977-03-01 00:00:00
abstract:BACKGROUND & AIMS:There are no prospective, multicenter, double-blind, placebo-controlled, randomized pharmacologic trials for the treatment of pain-predominant functional gastrointestinal disorders in children. The aim of this study was to evaluate the efficacy of amitriptyline in children with pain-predominant functi...
journal_title:Gastroenterology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1053/j.gastro.2009.06.060
更新日期:2009-10-01 00:00:00
abstract:BACKGROUND:Calretinin and calbindin-D28k are similar Ca(2+)-binding proteins previously described in specific central neurons and other cells. METHODS:The immunocytochemical distribution of these two proteins was studied in the human gastrointestinal tract. RESULTS:In gastric and small intestinal endocrine cells, cal...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(93)90346-e
更新日期:1993-05-01 00:00:00
abstract::We have examined the receptor binding of radio-iodinated murine epidermal growth factor and the effects of epidermal growth factor on both amylase release and incorporation of [3H]leucine into protein in isolated adult mouse pancreatic acini in primary culture. Binding of radioiodinated murine epidermal growth factor ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1983-08-01 00:00:00
abstract:BACKGROUND:Calcitonin gene-related peptide (CGRP) is a 37-amino acid peptide localized to primary sensory afferent nerves in the rat stomach. The actions of CGRP in regulating antral neuroendocrine function were examined in vitro through the use of capsaicin, an agent capable of evoking neuropeptide release from periph...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(93)90417-b
更新日期:1993-02-01 00:00:00
abstract::This document presents the official recommendations of the American Gastroenterological Association (AGA) Institute on "Use of Gastrointestinal Medications in Pregnancy." It was approved by the Clinical Practice and Economics Committee on February 22, 2006, and by the AGA Institute Governing Board on April 20, 2006. ...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1053/j.gastro.2006.04.048
更新日期:2006-07-01 00:00:00
abstract:BACKGROUND & AIMS:Knowledge of the placebo outcomes and understanding specific study features that influence these outcomes is important for designing future clinical trials evaluating therapy of ulcerative colitis (UC). The aims of this study were to estimate the placebo rates of remission and response in placebo-cont...
journal_title:Gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.1053/j.gastro.2006.12.037
更新日期:2007-02-01 00:00:00
abstract:BACKGROUND & AIMS:Foxl1(+) hepatic progenitor cells (HPCs) differentiate into cholangiocytes and hepatocytes after liver injury. We investigated the requirement for Foxl1(+) HPCs in recovery from liver injury in mice. METHODS:We developed mice in which we could trace and delete Foxl1-expressing HPCs and their descenda...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2014.09.039
更新日期:2015-01-01 00:00:00
abstract::Lower esophageal sphincter pressure, basal gastric pH, fasting plasma gastrin, and plasma concentrations of estrone, estradiol, and progesterone were measured in pregnant volunteers at 12, 24, and 36 weeks of gestation, and again at 1 to 4 weeks postpartum. In addition, basal and pentagastrin-stimulated acid secretory...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1977-04-01 00:00:00
abstract:BACKGROUND & AIMS:Drug-induced cholestasis is a frequent form of acquired liver disease. To elucidate the molecular pathogenesis of drug-induced cholestasis, we investigated the effects of prototypic cholestatic drugs on the canalicular bile salt export pump (Bsep) of rat liver. METHODS:Vesicles were isolated from Bse...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/s0016-5085(00)70224-1
更新日期:2000-02-01 00:00:00
abstract::We report a patient with severe peptic ulcer disease and a right ovarian mass that was found to be a gastrin-producing cystadenocarcinoma. Gastrin production by the tumor was stimulated by secretin and inhibited by the long-acting somatostatin analogue SMS 201-995. Following resection of the tumor, serum gastrin level...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(89)90084-x
更新日期:1989-08-01 00:00:00
abstract:BACKGROUND & AIMS:Intrahepatic bile ducts express a range of lymphocyte adhesion molecules during episodes of inflammation. This may contribute to the susceptibility of biliary epithelium to immunologic damage during liver allograft rejection, graft-versus-host disease, and primary biliary cirrhosis. However, no previo...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.1997.v112.pm9041260
更新日期:1997-03-01 00:00:00
abstract:BACKGROUND & AIMS:It has been proposed that activation of the sympathetic nervous system causes a rightward shift in the renal autoregulatory curve such that renal blood flow is critically dependent on renal perfusion pressure and that this contributes to the development of the hepatorenal syndrome. The aims of the stu...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2007.10.055
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND & AIMS:Nonalcoholic chronic pancreatitis is usually idiopathic and often associated with cystic fibrosis gene (CFTR) mutations. It is unknown whether pancreatitis risk correlates with having 1 or 2 CFTR mutations, abnormal epithelial ion transport, or mutations of other genes. METHODS:We tested 39 patients ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.2001.29673
更新日期:2001-12-01 00:00:00
abstract::Adverse reactions to food that result in gastrointestinal symptoms are common in the general population; while only a minority of such individuals will have symptoms due to immunologic reactions to foods, gastrointestinal food allergies do exist in both children and adults. These immune reactions are mediated by immun...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1053/j.gastro.2004.08.015
更新日期:2005-04-01 00:00:00
abstract::Plasma amino acid abnormalities are common in alcoholics, but the respective role of alcoholism, nutrition, and liver injury in producing these abnormalities is unknown. To elucidate this question, amino acids were measured in 56 alcoholics and 32 nonalcoholics with liver disease, and in an experimental model of alcoh...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1978-04-01 00:00:00
abstract::Developmental aspects of the intestinal transport of biotin were examined in suckling (16 day old) and weanling (24 day old) rats using the everted sac technique. The results were compared with those of adult rats previously reported by us using the same intestinal preparation. Transport of biotin was linear for 20 mi...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(88)90611-7
更新日期:1988-01-01 00:00:00
abstract:BACKGROUND/AIMS:The gastric mucosa is covered by a continuous layer of bicarbonate-containing mucus gel; the question arises how acid, formed in the gastric glands, moves into the lumen. METHODS:The pH in the gastric mucus gel and gel thickness were measured in anesthetized rats with pH-sensitive microelectrodes (tip ...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(94)90075-2
更新日期:1994-07-01 00:00:00
abstract:BACKGROUND & AIMS:The cyclic adenosine monophosphate (cAMP) and Ca(2+) signaling pathways synergize to regulate many physiological functions. However, little is known about the mechanisms by which these pathways interact. We investigated the synergy between these signaling pathways in mouse pancreatic and salivary glan...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2013.03.047
更新日期:2013-07-01 00:00:00
abstract::In the TMC435-C101 study, 6 patients infected with hepatitis C virus genotype 1 were treated with the protease inhibitor TMC435 (200 mg once daily) as monotherapy for 5 days. Approximately 1.5 years later, 5 of these patients were re-treated with TMC435 (200 mg once daily) plus pegylated interferon alfa-2a and ribavir...
journal_title:Gastroenterology
pub_type: 临床试验,杂志文章
doi:10.1053/j.gastro.2012.07.117
更新日期:2012-11-01 00:00:00
abstract::The purposes of this study were to determine the association, in 10 pedigrees, between adenomatous polyposis coli, hereditary nonpolyposis colorectal cancer, and occult radiopaque jaw lesions, and to assess whether these radiodensities are predictors for adenomatous polyposis. In seven kindreds with adenomatous polypo...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1016/0016-5085(87)90910-3
更新日期:1987-09-01 00:00:00
abstract:BACKGROUND & AIMS:Patients with colorectal tumors with microsatellite instability (MSI) have better prognoses than patients with tumors without MSI, but have a poor response to 5-fluorouracil–based chemotherapy. A dominant-negative form of heat shock protein (HSP)110 (HSP110DE9) expressed by cancer cells with MSI, via ...
journal_title:Gastroenterology
pub_type: 杂志文章,多中心研究
doi:10.1053/j.gastro.2013.10.054
更新日期:2014-02-01 00:00:00
abstract::Incidence of intrahepatic arteriovenous fistula after needle biopsy of the liver, percutaneous transhepatic cholangiography, and transhepatic catheterization of an intrahepatic bile duct or portal vein, was determined by studying the hepatic arteriograms obtained within 1 month of the transhepatic procedure. An arteri...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:
更新日期:1978-06-01 00:00:00
abstract:BACKGROUND & AIMS:Synchronous activation of the Wnt signaling pathway, mostly because of loss of function of the APC tumor suppressor, and of the oncogenic KRAS-signaling pathway is very frequent in colorectal cancer and is associated with poor prognosis. METHODS:We have generated a compound transgenic mouse model, KR...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/j.gastro.2006.08.011
更新日期:2006-10-01 00:00:00
abstract::Focal nodular hyperplasia (FNH) and hepatocellular adenoma (HCA) are benign hepatocellular tumors that develop most frequently in women without cirrhosis. Genomic approaches have identified signaling pathways related to these benign hepatocyte proliferations. FNH, a polyclonal lesion, is characterized by local vascula...
journal_title:Gastroenterology
pub_type: 杂志文章,评审
doi:10.1053/j.gastro.2013.02.032
更新日期:2013-05-01 00:00:00
abstract:BACKGROUND & AIMS:Despite intensive investigations, very little is known about the molecular identity(ies) of the intestinal folate transport system(s), especially in humans. The aim of this study was to isolate a functional human intestinal folate carrier complementary DNA (cDNA) clone and determine the distribution o...
journal_title:Gastroenterology
pub_type: 杂志文章
doi:10.1053/gast.1997.v112.pm9041240
更新日期:1997-03-01 00:00:00