Abstract:
:Progressive familial intrahepatic cholestasis (PFIC) syndromes are characterized by defects in transporters of conjugated bile acids into the bile canaliculus. Three genes (ATP8B1, ABCB11, ABCB4) are associated with the different forms, but no easy genotype-phenotype correlations help in the prioritization for gene testing. We developed a denaturing high-performance liquid chromatography (DHPLC) method to screen patients with PFIC for mutations in ATP8B1 and ABCB11, and combined genetic analyses with immunolabeling in liver for the ABCB11 and ABCB4 gene products. Used in combination with commercially available antibodies on liver specimens, the DHPLC approach allowed us to confirm the clinical diagnosis in two Italian sisters and to identify a novel missesnse mutation in ABCB11. Our findings are expected to facilitate detection of the molecular cause of PFIC in affected families.
journal_name
J Gastroenteroljournal_title
Journal of gastroenterologyauthors
Nobili V,Di Giandomenico S,Francalanci P,Callea F,Marcellini M,Santorelli FMdoi
10.1007/s00535-006-1816-zsubject
Has Abstractpub_date
2006-06-01 00:00:00pages
598-603issue
6eissn
0944-1174issn
1435-5922journal_volume
41pub_type
杂志文章abstract:BACKGROUND:To further clarify the clinico-epidemiological features of autoimmune pancreatitis (AIP) in Japan, we conducted the fourth nationwide epidemiological survey. METHODS:This study consisted of two stage surveys; the number of AIP patients was estimated by the first survey and their clinical features were asses...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-019-01658-7
更新日期:2020-04-01 00:00:00
abstract:BACKGROUND:The p53 tumor suppressor protein plays a fundamental role in maintaining genomic integrity through its ability to arrest the cell cycle in G1 and induce apoptosis. The proapoptotic activity of p53 seems to be strictly related to proline-rich regions, homologous to the SH3 binding domain. In the literature, r...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-007-2026-z
更新日期:2007-06-01 00:00:00
abstract::To evaluate the diagnostic utility of blood biochemical parameters in assessing degree of hepatic fibrosis, serum levels of aminoterminal type III procollagen peptide (P III P), type IV collagen (IV-collagen), 7S domain of type IV collagen (7S-collagen), and hyaluronan (HA) were measured in 54 patients with chronic vi...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/BF02934493
更新日期:1997-06-01 00:00:00
abstract::Post-endoscopic retrograde cholangiopancreatography (ERCP) pancreatitis is the most frequent complication of ERCP. Several meta-analyses have examined the effects of protease inhibitors (gabexate mesilate, ulinastatin, and nafamostat mesilate) and non-steroidal anti-inflammatory drugs (NSAIDs) on post-ERCP pancreatiti...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s00535-013-0834-x
更新日期:2014-03-01 00:00:00
abstract::Chronic pancreatitis is a chronic clinical disorder characterized by irreversible damage to the pancreas and the development of histologic evidence of inflammation and fibrosis, and eventually the destruction and permanent loss of exocrine and endocrine tissue. A nationwide survey in Japan revealed an increase in the ...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.1007/s005350300058
更新日期:2003-01-01 00:00:00
abstract::An association between macrovascular thrombosis and idiopathic inflammatory bowel disease has been described, although very few well-documented cases have been published. We report on a 39-year-old woman who presented with right hemifacial and upper limb edema that was shown to be due to an extensive right brachioceph...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s005350300046
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:Subepithelial myofibroblasts (SEMFs) play a role in extracellular matrix (ECM) metabolism in the colon. In this study, we investigated the effects of interleukin (IL)-17, IL-1beta, and tumor necrosis factor (TNF)-alpha on matrix metalloproteinase (MMP)-3 secretion in colonic SEMFs. METHODS:MMP-3 secretion a...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-002-1101-8
更新日期:2003-01-01 00:00:00
abstract:BACKGROUND:The aim of this study was to examine the impact of age on esophageal sensation, and to determine whether esophageal mechanosensitivity and chemosensitivity are correlated in healthy Japanese subjects. METHODS:To evaluate chemosensitivity, a catheter was inserted and placed 10 cm above the upper border of th...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-012-0665-1
更新日期:2013-03-01 00:00:00
abstract::In Japan, nutritional therapy as both a primary and as a secondary treatment is widely used for Crohn's disease (CD). The rationale for its use is based on a variety of reasons. The first is its ability to induce remission and to ameliorate the activity of intestinal lesions in the short term by enteral (EN) or by par...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.1007/BF02990575
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Primary biliary cirrhosis (PBC) is histopathologically characterized by chronic nonsuppurative destructive cholangitis and ductopenia of interlobular bile ducts. Bile duct injury is also often encountered in chronic viral hepatitis (CVH) and in autoimmune hepatitis (AIH). METHODS:In this study, we performed...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-004-1514-7
更新日期:2005-02-01 00:00:00
abstract::The localization and distribution of gamma delta T cell receptor (TCR)-positive cells (gamma delta T cells) in hepatocellular carcinoma capsules was investigated immunohistochemically at both light and electron microscopic levels. Most of the mononuclear cells infiltrating the tumor capsules were CD3-positive. Togethe...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/BF02347508
更新日期:1995-06-01 00:00:00
abstract::Perianal fistulae are frequently seen complications in Crohn's disease. Although surgical procedures such as Seton's method have been devised, many patients still suffer from fistulae that are resistant to conventional therapy. We administered oral adsorbent to a patient with disease Crohn's who had a complicated peri...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s005350050349
更新日期:2000-01-01 00:00:00
abstract::Combined hepatocellular (HCC) and cholangiocellular carcinoma (CCC) (mixed carcinoma) is a rare subtype of primary hepatic carcinoma. We report a case of mixed carcinoma that developed in a non-cirrhotic liver, in a patient who was serologically negative for both hepatitis B and C viruses. A 65-year-old Japanese woman...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s005350050140
更新日期:1998-08-01 00:00:00
abstract::To determine the role of endogenous substance P in ethanol-induced mucosal damage, two experiments were performed. In the first experiment, the stomachs of anesthetized rats were doubly cannulated and gastric damage was induced with 5ml of 30% ethanol in the gastric lumen. The damage was ameliorated by pretreatment wi...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/BF02355018
更新日期:1996-06-01 00:00:00
abstract::Diagnosis of chronic pancreatitis in its early stage is an extremely difficult task. If the genetic predispositions are identified, it may help make possible the earlier diagnosis of chronic pancreatitis or the detection of patients at risk. There are two major hypotheses about the pathogenesis of chronic pancreatitis...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.1007/s00535-006-1934-7
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Several small, prospective, open studies suggest that leukocytapheresis might be efficient in patients with steroid-dependent ulcerative colitis (UC). AIM:To evaluate the short- and long-term effectiveness of leukocytapheresis for the management of steroid-dependent UC in clinical practice. METHODS:A Web-b...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-011-0499-2
更新日期:2012-04-01 00:00:00
abstract::In the original publication of the article, the following errors were noted and corrected in this correction. ...
journal_title:Journal of gastroenterology
pub_type: 已发布勘误
doi:10.1007/s00535-020-01718-3
更新日期:2020-10-01 00:00:00
abstract::In recent years autoimmune pancreatitis (AIP) has been established as a special type of chronic pancreatitis. It is characterized by its histopathological and immunological features. The morphological hallmarks are periductal infiltration by lymphocytes and plasma cells, granulocytic epithelial lesions with focal dest...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.1007/s00535-007-2048-6
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:There have been few reports on hepatocellular carcinoma (HCC) in nonalcoholic steatohepatitis (NASH) and the natural history of NASH. Accordingly, we assessed the clinical features of HCC in NASH, the risk factors for HCC, and natural history of NASH with advanced fibrosis. PATIENTS AND METHODS:There were 3...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-008-2262-x
更新日期:2009-01-01 00:00:00
abstract::We report a case of synchronous gas gangrene and spontaneous bacterial peritonitis associated with liver cirrhosis. The patient was a 52-year-old man who was being followed for decompensated liver cirrhosis. He experienced sudden onset lower abdominal pain with distension and pain in the left leg. A bullous lesion, wi...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/BF02936380
更新日期:1997-04-01 00:00:00
abstract:BACKGROUND:Combination therapy of intravenous hepatitis B immunoglobulin (ivHBIG) and nucleos(t)ide (NA) analogues is the best post-liver transplantation (LT) prophylactic measure for hepatitis B virus (HBV). However, to reduce the long-term drawbacks of ivHBIG, we evaluated the efficacy of sequential entecavir (ETV) m...
journal_title:Journal of gastroenterology
pub_type: 临床试验,杂志文章
doi:10.1007/s00535-013-0761-x
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:The clinicopathologic features of cystic neoplasms of the liver, such as cystadenoma and cystadenocarcinoma, are poorly defined because these lesions are extremely rare. METHODS:Clinicopathologic findings in six patients who underwent surgery for a cystic hepatic neoplasm were reviewed retrospectively to de...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-003-1142-7
更新日期:2003-01-01 00:00:00
abstract::To elucidate the role played by hepatic sinusoidal cells in the regulation of the circulatory status in the liver, the effect of endothelins (ETs) on primary-cultured stellate cells was examined. Kinetic analysis with 125I-labeled ET-1 revealed that stellate cells have ET receptors with a Kd value of 141 pM and a Bmax...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/BF02349639
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND:Cold snare polypectomy (CSP) has not undergone sufficient histopathological evaluation. This study aimed to clarify the histopathological features of CSP specimens, including resection depth and layer, as compared with endoscopic mucosal resection (EMR). METHODS:Polyps were recruited retrospectively. Sessil...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-018-1446-2
更新日期:2018-11-01 00:00:00
abstract::A new triple therapy using a proton pump inhibitor and two antibiotics shows high efficiency against Helicobacter pylori infection. The aim of this study was to determine the optimal dose and duration of lansoprazole (LA) administration in combination with amoxicillin (AMPC) and metronidazole (MNZ). A total of 91 pati...
journal_title:Journal of gastroenterology
pub_type: 临床试验,杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract:BACKGROUND:Recently, a significant relationship between gastric cancer and Helicobacter pylori infection has been proven. The purpose of this study was to elucidate the actual conditions of H. pylori infection in Japanese teenagers. METHODS:The study subjects were students at a certain high school between 2007 and 200...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-011-0450-6
更新日期:2011-12-01 00:00:00
abstract::Chronic inflammatory bowel disease (IBD) is an important etiologic factor in the development of colorectal cancer. However, the mechanism underlying the development of colorectal cancers through chronic inflammation is not known. Activation-induced cytidine deaminase (AID) was originally identified as an inducer of so...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-010-0326-1
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Nonalcoholic fatty liver disease (NAFLD) consists of nonalcoholic fatty liver (NAFL) and nonalcoholic steatohepatitis (NASH); the latter progresses to liver cirrhosis and hepatocellular carcinoma. Discriminating NASH from NAFL typically involves liver biopsy. The mechanism of NASH progression is unclear but ...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s00535-019-01565-x
更新日期:2019-08-01 00:00:00
abstract::Various types of polyunsaturated fatty acids (PUFAs) have been suggested to exert different effects on the colon in terms of promotion or inhibition of tumor development. Results of in vitro and in vivo studies are, however, inconsistent and it remains unclear whether or not the cellular effects of PUFAs change along ...
journal_title:Journal of gastroenterology
pub_type: 杂志文章
doi:10.1007/s005350050071
更新日期:1998-04-01 00:00:00
abstract::We report a 66-year-old man with hepatocellular carcinoma who was positive for hepatitis B surface antigen, and was hospitalized because of hypoglycemia and hypertension. His plasma renin activity was normal (2.3 ng/ml per h), but concentrations of angiotensin I (>2500 pg/ml) and II (86 pg/ml) were high. Increased ang...
journal_title:Journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.1007/s005350050309
更新日期:1999-08-01 00:00:00