Abstract:
OBJECTIVES:The hybrid allele of the carboxyl ester lipase gene (CEL-HYB1) is a genetic risk factor for chronic pancreatitis (CP) although the mechanism promoting disease development is largely unknown. Here, we aimed to clinically describe subjects carrying the CEL-HYB1 allele and to elucidate why the protein product is pathogenic by analyzing pancreatic secretions and cellular models. METHODS:Norwegian cases (n = 154) diagnosed with recurrent acute pancreatitis or CP were subjected to genetic screening by a CEL-HYB1-specific PCR assay followed by Sanger sequencing. For investigation of CEL-HYB1 protein secretion, duodenal juice samples from cases and controls were analyzed by western blotting. HEK293cells were transfected with constructs expressing CEL-HYB1 or the normal CEL protein (CEL-WT) and analyzed by qPCR, cell fractionation and western blotting. RESULTS:Two CEL-HYB1-positive families were identified. In both pedigrees, CEL-HYB1 did not fully co-segregate with disease. One proband had recurrent acute pancreatitis and was an active smoker. Her mother was a CEL-HYB1 carrier who had suffered from several attacks of acute pancreatitis until she stopped smoking. The other proband was diagnosed with CP and pancreas divisum. Her CEL-HYB1-positive parent was symptom-free but exhibited pancreatic imaging changes. When analyzing the CEL protein in duodenal juice, CEL-WT was readily detectable but no band corresponding to the risk variant was seen. In CEL-HYB1-transfected cells, we observed impaired protein secretion, protein aggregation and endoplasmic reticulum stress. CONCLUSION:Our data suggest that CEL-HYB1, in combination with well-known pancreatitis risk factors, causes disease through the misfolding-dependent pathway of genetic CP risk.
journal_name
Eur J Gastroenterol Hepatoljournal_title
European journal of gastroenterology & hepatologyauthors
Tjora E,Gravdal A,Engjom T,Cnop M,Johansson BB,Dimcevski GG,Molven A,Fjeld Kdoi
10.1097/MEG.0000000000001963subject
Has Abstractpub_date
2020-10-16 00:00:00eissn
0954-691Xissn
1473-5687pub_type
杂志文章abstract:BACKGROUND AND OBJECTIVES:The response to immunosuppressive therapy in autoimmune hepatitis (AIH) is a matter of debate. The aim of this work is to identify the histological, biochemical, and clinical predictive factors of incomplete response/treatment failure to the standard treatment (prednisone with or without azath...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0000000000000982
更新日期:2017-12-01 00:00:00
abstract:INTRODUCTION:The aim of this study was to evaluate information provided on pregnancy, personal decision making, disease course, and outcome of pregnancy from a patient's perspective in a population of patients with inflammatory bowel disease (IBD) attending two general hospitals. PATIENTS AND METHODS:A questionnaire w...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章,多中心研究
doi:10.1097/MEG.0000000000001117
更新日期:2018-07-01 00:00:00
abstract::Concomitant functional dyspepsia (FD) and psychosocial stressors have been reported; however, the association between FD and depression remains controversial and no quantitative meta-analysis exists. Published articles were identified through a comprehensive review of PubMed, Embase, and Web of Science from inception ...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章,meta分析,评审
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更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:Studying factors associated with positive gastroscopies in dyspeptic patients can help limit and rationalize waiting lists for endoscopies. Dyspepsia guidelines have a controversial role because their main purpose is to provide specifications on efficient global management of primary care patients. AIM:To a...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/01.meg.0000216942.42306.d5
更新日期:2007-07-01 00:00:00
abstract:OBJECTIVE:To investigate the subclinical cardiac morphological and functional modifications in cirrhotic patients according to the stage of liver disease. PATIENTS AND METHODS:One hundred and thirteen cirrhotic patients underwent standard Doppler echocardiography and were compared with healthy individuals. Left ventri...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0000000000000340
更新日期:2015-06-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-199702000-00023
更新日期:1997-02-01 00:00:00
abstract::Primary squamous cell carcinoma of the stomach is extremely rare. To date, only 80 cases have been reported. A 65-year-old man with complaints of epigastric pain and cachexia for the past year is presented. He had a tumour with infiltration of the corpus and antrum of the stomach. The tumour was unresectable, and the ...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章,评审
doi:10.1097/01.meg.0000050011.68425.82
更新日期:2003-03-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to investigate the changes in serum lipid profiles in biliary obstruction associated with benign and malignant conditions and to find whether they can be used as adjunctive biochemical tumor markers in the differential diagnosis. METHODS:One hundred and twenty patients (60 malignan...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e32833036c3
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journal_title:European journal of gastroenterology & hepatology
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doi:10.1097/MEG.0b013e3283598506
更新日期:2013-01-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e3282f4aa01
更新日期:2008-06-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-200603000-00007
更新日期:2006-03-01 00:00:00
abstract:INTRODUCTION:Hepatitis C virus (HCV) is a principal cause of severe liver diseases worldwide and a possible source of significant morbidity and fatality in the long term. Information on the genotype is more significant because it has prognostic value in the response to antiviral therapy. OBJECTIVES:This study aimed to...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章,meta分析
doi:10.1097/MEG.0b013e328362dc3f
更新日期:2014-01-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/meg.0b013e328323aadd
更新日期:2009-08-01 00:00:00
abstract::Antiphospholipid antibodies are a heterogeneous group of acquired autoantibodies that react with anionic phospholipids, such as cardiolipin. Anticardiolipin antibodies (ACAs) are frequently found in patients with systemic lupus erythematosus and other autoimmune disorders and can react with the phospholipid alone or b...
journal_title:European journal of gastroenterology & hepatology
pub_type: 评论,杂志文章
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更新日期:2003-07-01 00:00:00
abstract:OBJECTIVES:The aim of this study was to evaluate the serum lipid profile and to assess the prevalence of hepatic steatosis in adult beta-thalassaemic patients with chronic hepatitis C virus (HCV) infection. METHODS:Thirty-five adult HCV infected, multi-transfused, beta-thalassaemia patients (beta-HCV patients), 63 oth...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-200503000-00014
更新日期:2005-03-01 00:00:00
abstract:OBJECTIVE:To evaluate the clinical and prognostic value of the monoethyl glycine xylidide (MEGX) test in patients with primary biliary cirrhosis (PBC) in comparison with the Mayo score (Mayo). DESIGN:A prospective study. METHODS:MEGX determinations at enrolment were compared to the Mayo score as well as to convention...
journal_title:European journal of gastroenterology & hepatology
pub_type: 临床试验,杂志文章
doi:
更新日期:1997-12-01 00:00:00
abstract:OBJECTIVE:To assess the accuracy of the determination of Helicobacter pylori infection by a stool immunoassay in patients with upper-gastrointestinal bleeding (UGB) of peptic origin, in comparison with the routine histological study, serology, rapid urease and 13C-breath tests. METHODS:Sixty-eight patients with endosc...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/01.meg.0000059114.41030.a9
更新日期:2003-05-01 00:00:00
abstract:INTRODUCTION:Intestinal complications in inflammatory bowel disease indicate active inflammation and typically result in the intensification of therapy. AIM:To analyse whether the rates of intestinal complications were associated with age at disease onset. PATIENTS AND METHODS:Data from 1506 individuals with Crohn's ...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0000000000000896
更新日期:2017-08-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-199604000-00018
更新日期:1996-04-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:
更新日期:1995-02-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e3283200073
更新日期:2009-03-01 00:00:00
abstract:OBJECTIVE:Most patients with hepatocellular carcinoma are diagnosed at intermediate or advanced stages (BCLC B or C) and undergo palliative local treatments such as transarterial chemoembolization or selective internal radiation therapy, also called radioembolization. In terms of liver function and tumor extent, stages...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0000000000001625
更新日期:2020-08-01 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-199906000-00014
更新日期:1999-06-01 00:00:00
abstract:BACKGROUND:Patients with achalasia require repeated invasive therapies and may experience multiple complications. The objectives of this study were to determine the incidence of such complications, causes of death, and life expectancy in 253 patients. METHODS:Patients consisted of two groups: group A comprised 177 pat...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e3282fbf5e5
更新日期:2008-10-01 00:00:00
abstract:BACKGROUND:The role of heterozygosity for alpha-1 antitrypsin (A1AT) alleles in patients with chronic hepatitis C virus (HCV) is unclear. There is limited evidence to suggest that there is an increased prevalence of heterozygous A1AT carriers in HCV, but it is unclear how this affects treatment success. AIM:To investi...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e3283320113
更新日期:2010-07-01 00:00:00
abstract:AIM:To compare the effect of pantoprazole and esomeprazole on intra-oesophageal pH and investigate their pharmacokinetics in patients with symptomatic gastro-oesophageal reflux disease (GORD). METHODS:Double-blind, randomized, two-period crossover study. Caucasian men with symptomatic GORD (n=48) were selected on the ...
journal_title:European journal of gastroenterology & hepatology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2003-07-01 00:00:00
abstract:INTRODUCTION:This work evaluates the burden and trends of hepatitis C virus (HCV)-associated hospitalisations in Spain before and after the implementation of the Strategic Plan for Tackling Hepatitis C in the National Health System in 2015. METHODS:HCV-related hospitalisation discharges from 2005 to 2017 were obtained...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0000000000001841
更新日期:2020-07-29 00:00:00
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journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/00042737-200412000-00015
更新日期:2004-11-01 00:00:00
abstract:AIM:To assess the conclusiveness of the Cochrane Reviews (CRs) in the field of Pediatric-Gastroenterology. We tested the hypotheses that (a) the majority of CRs are inconclusive, (b) the majority of CRs recognize the need for further studies, (c) the ability to reach a conclusion is dependent on both the number of stud...
journal_title:European journal of gastroenterology & hepatology
pub_type: 杂志文章
doi:10.1097/MEG.0b013e32835a1083
更新日期:2013-02-01 00:00:00