Abstract:
:Wilson's disease is an autosomal recessive, inborn error of copper metabolism. The basic defect is unknown but decreased biliary excretion of copper is associated with copper accumulation and damage to the liver, brain and other organs with variable clinical expression. The gene for the disease has been mapped to band 14.1-21.1 of the long arm of chromosome 13, and an increasing number of flanking DNA markers has become available in recent years. Family studies using these markers offer the first diagnostic tool which is independent of copper metabolism. This method has been applied successfully for carrier detection in siblings of patients and has the potential to be used for prenatal diagnosis. The results of linkage studies in families of different ethnic origins suggest that the disease is associated with a mutation at a single chromosomal region. The assignment of the gene to chromosome 13 and the availability of closely linked markers are the first steps towards cloning of the disease gene and eventually may lead to determination of the basic metabolic defect.
journal_name
J Gastroenterol Hepatoljournal_title
Journal of gastroenterology and hepatologyauthors
Frydman Mdoi
10.1111/j.1440-1746.1990.tb01427.xsubject
Has Abstractpub_date
1990-07-01 00:00:00pages
483-90issue
4eissn
0815-9319issn
1440-1746journal_volume
5pub_type
杂志文章,评审abstract:BACKGROUND AND AIM:In Crohn's disease (CD), assessment of disease activity and extension is important for clinical management. Endoscopy is the most reliable tool for evaluating disease activity in these patients and it distinguishes between lesions based on ulcer, erosion, and redness. Magnetic resonance imaging (MRI)...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.12851
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND:Anti-neutrophil cytoplasmic antibodies (ANCA) against proteinase 3 are diagnostic of Wegener's granulomatosis, but ANCA occur also in patients with other inflammatory disorders, such as ulcerative colitis, primary sclerosing cholangitis (PSC) and autoimmune hepatitis. As their predictive value for autoimmune...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1046/j.1440-1746.2000.02078.x
更新日期:2000-04-01 00:00:00
abstract:BACKGROUND AND AIM:Symptoms and complications of primary biliary cirrhosis (PBC) have been shown to impair patients' health-related quality of life (HRQOL) in the West. We aimed to measure the HRQOL and to determine the factors associated with worse HRQOL among the Chinese PBC patients in Hong Kong. METHODS:Chinese pa...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2007.05092.x
更新日期:2008-04-01 00:00:00
abstract::There is some evidence of an antagonism between peptic ulcer and diabetes mellitus. This antagonism is possibly related to anomalous insulin metabolism in duodenal ulcer patients. To evaluate this issue, 471 Rochester, Minnesota residents who had surgery for peptic ulcer were examined and then followed for up to 34 ye...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.1992.tb00987.x
更新日期:1992-05-01 00:00:00
abstract:BACKGROUND AND AIM:The high-mobility group box 1 (HMGB1) protein plays an important role in a lot of biological behaviors, including DNA damage repair, gene transcription, cell replication, and cell death, and its expression is higher in many solid tumors tissues than in their adjacent normal tissues, and it is always ...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.14371
更新日期:2019-04-01 00:00:00
abstract:BACKGROUND AND AIM:Palliative endoscopic or percutaneous biliary drainage is used for unresectable advanced hilar cancer (HC). The best option for drainage in Bismuth type III or IV HC has not been established. The aims of this study are to identify factors predictive of endoscopic stenting failure and evaluate the eff...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.13602
更新日期:2017-04-01 00:00:00
abstract:BACKGROUND AND AIM:Non-invasive markers are essential to assess the progression of chronic liver diseases to fibrosis/ cirrhosis and the effectiveness of therapeutic strategies. The aim of this study was to evaluate the ability of non-invasive markers to identify significant fibrosis, severe fibrosis, and cirrhosis in ...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.13407
更新日期:2016-12-01 00:00:00
abstract:BACKGROUND AND AIM:Oral mucosal pathologies are frequent in inflammatory bowel disease (IBD). Since host-microbiome interactions are implicated in the pathogenesis of IBD, in this study the potential for changes affecting the oral microbiome was evaluated using two complementary mouse models of colitis: either chemical...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.12713
更新日期:2015-03-01 00:00:00
abstract:BACKGROUND AND AIM:Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. Patients with FAP are screened for germline mutations of two genes, APC and MUTYH. However, limited data exist on the clinical characterization and genotypic spectrum of FAP in China. This study was aimed to deter...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.14704
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND AND AIM:Intubation of the terminal ileum (TI) demonstrates a complete colonoscopy, but its clinical value during screening exams is unknown. We aimed to determine whether TI intubation during screening colonoscopy is associated with colonoscopy quality measures or identifies subclinical pathology. METHODS:W...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.14997
更新日期:2020-09-01 00:00:00
abstract::In order to achieve possible greater therapeutic efficacy, ranitidine 300 mg bid (R2) may be given rather than 300 mg qhs (R1), or nizatidine 300 mg bid (N2) may be given rather than 300 mg qhs (N1). A randomized placebo-controlled crossover study was performed in six healthy volunteers (four males, two females) who r...
journal_title:Journal of gastroenterology and hepatology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1111/j.1440-1746.1995.tb01345.x
更新日期:1995-09-01 00:00:00
abstract::The immunogenicity and adverse reaction of an inactivated hepatitis A (HA) vaccine were investigated. Sixty healthy adult volunteers who lacked antibody to HA virus (anti-HAV) received three doses of vaccine containing 720 enzyme-linked immunosorbent assay (ELISA) units (EL.U) according to a 0, 1 and 6 month schedule....
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.1993.tb01524.x
更新日期:1993-07-01 00:00:00
abstract:BACKGROUND AND AIM:Application of acetic acid topically to the mucosal or serosal side of the stomach has been well used to create a chronic gastric ulcer model. The aim of the present study was to apply it as a new cytoreductive approach in a mouse model of gastric cancer. METHODS:A total of 43 genetically engineered...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2012.07070.x
更新日期:2012-04-01 00:00:00
abstract:BACKGROUND AND AIMS:Nicotine administration is known to decrease lower oesophageal sphincter (LOS) pressure. Although a few studies have assessed the effect of tobacco on the LOS, the effect of acute and long-term oral tobacco use on oesophageal motility is not known. The study was designed to investigate the effect of...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1046/j.1440-1746.2000.02287.x
更新日期:2000-09-01 00:00:00
abstract:BACKGROUND:Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction. Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. Liver disease in cystinosis is rare ...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2008.05312.x
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:To elucidate the cause of possible occurrence of reflux esophagitis after Helicobacter pylori eradication, gastric and esophageal function among H. pylori infected Japanese patients were evaluated both before and after eradication therapy. METHODS:Nine H. pylori-positive patients were studied before and 6 m...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2003.03301.x
更新日期:2004-03-01 00:00:00
abstract:BACKGROUND AND AIM:Covered metallic stents (CMSs) were developed to overcome tumor ingrowth in uncovered metallic stents (UMSs) for malignant biliary obstruction, but superiority of CMSs over UMSs is still controversial due to the high migration rate in CMS. Therefore, we conducted this retrospective analysis to clarif...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.12602
更新日期:2014-09-01 00:00:00
abstract::There are approximately 277,000 new cases of pancreatic cancer and 266,000 deaths from pancreatic cancer annually, indicating a mortality rate of 96% of the cases diagnosed. Because of the ineffectiveness of therapies, a major emphasis needs to be placed on prevention. This paper reviews the epidemiology and risk fact...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章,评审
doi:10.1111/j.1440-1746.2011.07013.x
更新日期:2012-03-01 00:00:00
abstract:BACKGROUND AND AIM:Survivin has functions in both the regulation of cell division and the inhibition of apoptosis, and it is expressed in most human tumors but not in normal adult tissues. It is a potential target for cancer gene therapy. In the present study, we designed a DNAzyme targeting human survivin mRNA and tri...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2005.03978.x
更新日期:2005-10-01 00:00:00
abstract:BACKGROUND AND AIM:Lipids play important roles in inflammation and may be involved in the pathophysiology of inflammatory bowel disease (IBD). Here, we evaluated the characteristics of the plasma lipid profile in patients with IBD. METHODS:Plasma samples were collected from 20 patients with Crohn's disease (CD), 20 pa...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.15067
更新日期:2020-08-01 00:00:00
abstract:AIMS:The aim of this study was to determine the cumulative rate of flare-up of serum alanine aminotransferase (ALT) level during a 10-year follow-up period, and characterize the clinical, virologic features in 120 hepatitis C virus (HCV) RNA-positive asymptomatic carriers with persistently normal ALT levels for 6 month...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1046/j.1440-1746.2001.02474.x
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND AND AIMS:Histological examination of specimens obtained by forceps biopsy sampling of gastric lesions is of limited accuracy, and their management on this basis is therefore controversial. Endoscopic mucosal resection (EMR) was initially developed in Japan for the resection of early gastric cancer (EGC). The...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2007.05247.x
更新日期:2008-04-01 00:00:00
abstract:BACKGROUND AND AIM:We assessed whether the two regimens of pegylated alpha-interferon-2b (PEG-IFN-alpha2b) plus ribavirin and pegylated alpha-interferon-2a (PEG-IFN-alpha2a) plus ribavirin showed differences in terms of sustained virological response, withdrawal due to side-effects and dose adjustment requirements in t...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2008.05397.x
更新日期:2008-06-01 00:00:00
abstract:BACKGROUND AND AIM:Hepatic fibrosis is a worldwide healthy burden associated with significant morbidity and mortality. It is caused by a variety of chronic liver injuries. There is currently no effective treatment for liver fibrosis. In this report, we tested an imidazolium salt, 1,3-diisopropylimidazolium tetrafluorob...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2012.07265.x
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND AND AIMS:Hepatic steatosis is a metabolic liver disease with the potential to progress to steatohepatitis, cirrhosis, and hepatocellular carcinoma (HCC). The aim of this study was to investigate the impact of CCAAT/enhancer-binding protein homologous protein (CHOP) deficiency in the development of steatosis-...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.12481
更新日期:2014-05-01 00:00:00
abstract::T regulatory cells (Tregs) play an important role in the regulation of autoimmunity, autoinflammation, allergic diseases, infection, and the tumor environment. Different subsets are characterized that use a number of regulatory mechanisms. Tregs can influence the progression of inflammatory bowel disease and the devel...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章,评审
doi:10.1111/jgh.13342
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:The clinicopathological profiles and outcome of chronic hepatitis B can differ by hepatitis B virus (HBV) genotypes. In Japan, genotype B and C are two major HBV genotypes. The basic core promoter and precore mutations are other known viral factors for disease activity, although the relationship between HBV ...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/j.1440-1746.2004.03572.x
更新日期:2005-03-01 00:00:00
abstract::Quantitative measurement of hepatitis C virus (HCV) RNA is useful in patients with chronic hepatitis C, especially with interferon treatment. We examined the clinical usefulness of the AMPLICOR monitor assay, a newly developed assay for quantitative measurement, by comparing it with two other assays with different pri...
journal_title:Journal of gastroenterology and hepatology
pub_type: 临床试验,杂志文章
doi:10.1111/j.1440-1746.1997.tb00473.x
更新日期:1997-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Acute graft-versus-host disease (GVHD) occurring within 100 days post-transplant is one of critical factors influencing prognosis in transplant recipients. Among cases of GVHD of the gastrointestinal (GI) tract, GVHD rarely affects the upper GI. In this study, we retrospectively examined the frequen...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1111/jgh.12651
更新日期:2014-11-01 00:00:00
abstract:BACKGROUND AND AIMS:Troglitazone is a newly developed antidiabetic drug and is indicated to be useful for the treatment of patients with type II diabetes mellitus. Recently, however, it became clear that troglitazone could cause liver dysfunction in some patients. In addition, a relationship between the activation of t...
journal_title:Journal of gastroenterology and hepatology
pub_type: 杂志文章
doi:10.1046/j.1440-1746.2000.02316.x
更新日期:2000-10-01 00:00:00