Abstract:
:We have used single-strand conformational polymorphism (SSCP) and heteroduplex analysis to examine DNA from 50 colorectal carcinoma patients coming from families meeting the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) or having developed colorectal carcinoma at age 45 or younger. We identified mutations in 12 of these patients, with seven of these being novel mutations. We examined four of the truncating mutations using in vitro transcription and translation (IVTT) assays and determined that the mutation causing an in-frame deletion of exon 5 could easily be detected by the IVTT assay, but the three mutations resulting in premature translation termination were not detected because the steady-state levels of the mutant allele transcripts are too low. Our findings suggest that some but not all mutant hMSH2 alleles have significantly lower steady-state mRNA levels than the normal allele. Under ideal circumstances, where lymphoblastoid cell lines are available for RNA extraction, IVTT may be useful for detecting truncating mutations. However, our data suggest that caution should be taken in using IVTT in routine screening of clinical samples for truncating HNPCC mutations, as many mutations may go undetected.
journal_name
Dig Dis Scijournal_title
Digestive diseases and sciencesauthors
Lin X,Choi JH,Lynch P,Xi L,Wu E,Frazier MLdoi
10.1023/a:1026609524482subject
Has Abstractpub_date
1999-03-01 00:00:00pages
553-9issue
3eissn
0163-2116issn
1573-2568journal_volume
44pub_type
杂志文章abstract:BACKGROUND:We conducted a systematic review and meta-analysis of meat intake and esophageal cancer risk, with subgroup analyses based on meat type and histological type of cancer. AIMS:The purpose of this study was to investigate the association between meat intake and risk of esophageal cancer. METHODS:We searched M...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s10620-013-2928-y
更新日期:2014-03-01 00:00:00
abstract::Octreotide is a crucial drug used for treating patients with chylous ascites; however, there have been few reports related to octreotide that are being used in cirrhotic patients. Thus, this thesis is designed to determine the effects of octreotide on patients with chylous ascites after liver cirrhosis. Eight patients...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-008-0566-6
更新日期:2009-08-01 00:00:00
abstract::There is a lack of information about the effect of omeprazole or other antisecretory drugs on intraduodenal pH. Aim of the study was to document the variation over time of intraduodenal pH during a 24-hr period and to simultaneously study the effect of omeprazole 40 mg once daily on intragastric and intraduodenal pH i...
journal_title:Digestive diseases and sciences
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1023/a:1018827003641
更新日期:1997-11-01 00:00:00
abstract:BACKGROUND:Helicobacter pylori vacuolating cytotoxin, VacA, stimulates apoptosis via a mitochondria-dependent pathway. VacA induces apoptosis via activation of the pro-apoptotic B-cell lymphoma (Bcl)-2 family proteins, Bcl-2-associated X protein (Bax) and Bcl-2 homologous antagonist/killer (Bak), while the implication ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-010-1420-1
更新日期:2011-04-01 00:00:00
abstract:BACKGROUND:Different factors have been associated with prolonged fluoroscopy time (FT) during endoscopic retrograde cholangiopancreatography (ERCP). AIM:We hypothesize that FT depends on both the anatomical location of the pathology managed during ERCP and the complexity of the ERCP. METHODS:Three centers participate...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章,多中心研究
doi:10.1007/s10620-014-3508-5
更新日期:2015-06-01 00:00:00
abstract:AIM:Several models of experimental ulcerative colitis have been previously reported. To date, only one model of Crohn's colitis that was induced by trinitrobenzene sulfonic acid has been described. MATERIALS AND METHODS:Twenty-one male albino rats were divided into three groups: group I: sham control group (n = 7), gr...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-011-1697-8
更新日期:2011-10-01 00:00:00
abstract::To date, tests of small intestinal passive permeability have involved the ingestion of test molecules whose permeation is assessed indirectly by measuring their urinary recovery. Excretion ratios of marker molecules (eg, lactulose-to-mannitol excretion ratio, LMER) are useful clinically. Measurement of permeability ma...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1026679123148
更新日期:1999-02-01 00:00:00
abstract::Squamous cell carcinoma represents the most common primary malignant lesion of the esophagus (1). The initial manifestation of lymphosarcoma infrequently occurs in the gastrointestinal tract, and in one large series, there were no lymphosarcomas presenting in the esophagus (2). In the case described below, a primary h...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01324907
更新日期:1979-11-01 00:00:00
abstract::Patients with insulin-dependent diabetes mellitus, autoimmune thyroid disease, Addison's disease, and alopecia areata are at increased risk of celiac disease. We investigated whether patients with more than one autoimmune endocrinologic disorder are even more susceptible to celiac disease or have celiac-type mucosal i...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1026612121041
更新日期:1999-07-01 00:00:00
abstract::Our purpose is to describe seven cases of disseminated aseptic abscesses with regard to clinical, biological, radiological, and histological information, treatment, and outcome. Data were collected on seven Caucasian patients who had proven sterile deep abscesses diagnosed in French university hospitals. The onset of ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1018835228850
更新日期:1998-02-01 00:00:00
abstract::A case of hypereosinophilic syndrome with eosinophilic colitis, eosinophilic cholecystitis, and increased serum levels of interleukin-5 (IL-5) and soluble interleukin-2 receptor (sIL-2R) is reported. Immunohistochemical studies of cholecystectomy and colon biopsy specimens with monoclonal antibodies, which are specifi...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章,评审
doi:10.1007/BF02093816
更新日期:1996-02-01 00:00:00
abstract:BACKGROUND:Currently there is no consensus on the optimal management of small-for-size syndrome following liver transplantation. Here we describe a technique to alleviate portal hypertension and improve the hepatocyte reperfusion in small-for-size liver transplantation in a Lewis rat model. METHODS:The rats underwent ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-020-06055-2
更新日期:2020-09-01 00:00:00
abstract:BACKGROUND:Gut inflammation is prevalent in chronic kidney disease (CKD) and likely contributes to systemic inflammation via disruption of the epithelial tight junction with subsequent endotoxin and bacterial translocation. AIMS:To study the expression profile of inflammatory and tight junction proteins in the colon f...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-014-3428-4
更新日期:2015-05-01 00:00:00
abstract::Several epidemiological studies have demonstrated a close association between Helicobacter pylori infection and carcinoma of the mid- or distal stomach. If this can be shown to be a causal association, eradication of the organism may prevent later development of cancer. Several mechanisms have been proposed by which H...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章,评审
doi:
更新日期:1998-09-01 00:00:00
abstract::Forty-one (98%) of 42 patients with achalasia of the esophagus had pneumatic dilatation performed successfully using the Brown-McHardy dilator. One to four dilatations (mean, 1.9) were done on each patient with inflation pressures of 8-15 psi (mean, 11.1 psi). Immediately after the procedure, all patients were examine...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01297184
更新日期:1987-09-01 00:00:00
abstract::The effects of sennosides on colonic myoelectrical activity were investigated in man. Spiking activity of the left and sigmoid colons was continuously recorded in seven constipated patients during two sessions from 5:00 PM to 9:00 AM. Each patient received orally at 7:00 PM on two consecutive days 30 mg of sennosides ...
journal_title:Digestive diseases and sciences
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1007/BF01536053
更新日期:1989-02-01 00:00:00
abstract::Chemiluminescence (CL) analysis of monocytes and polymorphonuclear cells (PMNs) was performed on 13 patients with Crohn's disease (CD) and 10 healthy volunteers. The percentages of monocyte populations in mononuclear cells obtained from the patients with CD were greater than those from the healthy volunteers, but the ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01535990
更新日期:1988-08-01 00:00:00
abstract:BACKGROUND:Obesity is associated with a proinflammatory state. AIM:To determine whether obesity at diagnosis is a risk factor for Crohn's disease vs. ulcerative colitis and also vs. community controls and whether there is a U-shaped relationship between body mass index at diagnosis and risk of Crohn's disease versus u...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-010-1541-6
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND AND AIMS:The present study aimed to identify the differential expressed genes that are related to acute pancreatitis. METHODS:Microarray datasets GSE109227 and GSE3644 were downloaded from the public database and analyzed to screen the genes. Afterward, integrated analysis of these genes were performed, inc...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-019-05928-5
更新日期:2020-06-01 00:00:00
abstract::The specificity of polymerase chain reaction monoclonality in the diagnosis of gastric lymphoma was prospectively evaluated. Gastric mucosal tissue from normal gastric mucosa (N = 13), benign gastric ulcers (N = 3), chronic Helicobacter pylori gastritis (N = 3), gastric mucosa-associated lymphoid tissue (N = 16), and ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1018842002926
更新日期:1998-02-01 00:00:00
abstract:BACKGROUND:The high mobility group protein A2 (HMGA2) is an architectural transcription factor that plays an important role in the development and progression of many malignant neoplasms. High expression of HMGA2 in gastric cancer correlates with invasiveness of cancer and is an independent prognostic factor. The reaso...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-012-2399-6
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:The aim of this retrospective study was to evaluate the success rate and complications of three precut techniques of sphincterotomy after failure of conventional techniques of cannulation of common bile duct (CBD). PATIENTS AND METHODS:Between January 2003 and October 2011, 2,903 consecutive ERCPs were perf...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-012-2271-8
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:Neoadjuvant chemoradiation reduces local recurrence in locally advanced rectal cancer, and adherence to national and societal recommendations remains unknown. OBJECTIVE:To determine variability in guideline adherence in rectal cancer treatment and investigate whether hospital volume correlated with variabil...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-017-4610-2
更新日期:2017-08-01 00:00:00
abstract::Plasma lipids, apoprotein A-I and B in serum and in lipoprotein fractions (VLDL + LDL, HDL2, and HDL3) obtained by preparative ultracentrifugation, as well as postheparin lipoprotein lipase activity (H-TGL and LPL) were evaluated in 17 subjects with primary biliary cirrhosis (stage II and III) subdivided into two grou...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01536666
更新日期:1988-10-01 00:00:00
abstract:OBJECTIVES:Lifestyle and demographic risk factors for the development of oesophageal adenocarcinoma developing from columnar-lined oesophagus are not well defined. METHODS:Demographic and lifestyle factors, endoscopy and histology reports were extracted from 1,761 subjects from seven UK centres. The associations of co...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-007-0023-y
更新日期:2008-05-01 00:00:00
abstract::On-demand therapy is effective for maintaining symptoms control in nonerosive gastroesophageal reflux disease (GERD). Our aim was to assess the clinical effectiveness of on-demand therapy with a proton pump inhibitor (PPI) in mild GERD (nonerosive and low-grade esophagitis), its impact on health-related quality of lif...
journal_title:Digestive diseases and sciences
pub_type: 临床试验,杂志文章
doi:10.1023/b:ddas.0000034551.39324.c3
更新日期:2004-06-01 00:00:00
abstract::The purpose of this study was to use simultaneous anal manometry and high-frequency endoluminal ultrasonography (EUS) to determine the relationship between resting anal pressure and cross-sectional area of the internal and external anal sphincters. Eleven normal subjects underwent simultaneous anal EUS and manometry u...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1026605409557
更新日期:1998-11-01 00:00:00
abstract::The main pancreatic duct epithelium acts as a barrier to the diffusion of molecules from the duct lumen into pancreatic acinar and interstitial tissue. We studied sequential ultrastructural characteristics of the loss of epithelial barrier function in the cat using lanthanum, an electron-opaque tracer, following perfu...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01300091
更新日期:1991-01-01 00:00:00
abstract::Our aim was to determine the effect of intestinal transection and resection on the prevalence of enteric flora and evaluate whether any such changes alter luminal SCFA and lactic acid content. Dogs underwent either 50% proximal (PR, N = 6) or distal (DR, N = 7) resection, distal resection with bypass of the ileocecal ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1018831728734
更新日期:1998-03-01 00:00:00
abstract:BACKGROUND:Notoginsenoside R1 (NG-R1) is the predominant active ingredient and a novel triterpene saponin compound extracted from the roots of Panax notoginseng. To date, to the best of our knowledge, there are no previous studies concerning the effect of NG-R1 on hepatocellular carcinoma (HCC). AIMS:To investigate th...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-019-05856-4
更新日期:2020-05-01 00:00:00