Abstract:
OBJECTIVE:Familial adenomatous polyposis (FAP) is an interesting model for the study of colorectal tumour. Two genes contribute to the FAP phenotype - APC and MUTYH - but their relative role is still undefined. The objective of this study was to evaluate the contribution of the two genes to the pathogenesis of FAP by means of a series of FAP families. MATERIAL AND METHODS:Sixty-one unrelated families with a diagnosis of FAP and a total of 187 affected individuals were evaluated. After extracting DNA, APC and MUTYH genes were sequenced. RESULTS:In the whole series of patients, colectomy with ileorectal anastomosis was the most frequent surgery, although the number of patients treated by total proctocolectomy and ileoanal anastomosis was increasing. Duodenal and jejunal-ileal adenomas were present in more than half of the patients. Constitutional mutations were detected in 37 of the 45 families (82.2%); there were 33 families with APC and 4 with MUTYH alterations. Age at onset of polyposis and age at surgery were 10-15 years delayed for carriers of MUTYH mutations; cancer at diagnosis was frequent, and extracolonic manifestations were diagnosed in the majority of MUTYH-positive families. MUTYH-associated polyposis showed the horizontal transmission expected for recessive inheritance (at variance with the dominant pattern seen with APC mutations). CONCLUSIONS:At least two genes are associated with the FAP phenotype. APC mutations account for the majority of cases, while MUTYH mutations can be observed in 10% of patients. There are few but definite differences between APC- and MUTYH-associated FAP, such as age at diagnosis and pattern of transmission.
journal_name
Scand J Gastroenteroljournal_title
Scandinavian journal of gastroenterologyauthors
Pezzi A,Roncucci L,Benatti P,Sassatelli R,Varesco L,Di Gregorio C,Venesio T,Pedroni M,Maffei S,Reggiani Bonetti L,Borsi E,Ferrari M,Martella P,Rossi G,Ponz De Leon Mdoi
10.1080/00365520903100481subject
Has Abstractpub_date
2009-01-01 00:00:00pages
1092-100issue
9eissn
0036-5521issn
1502-7708pii
913078367journal_volume
44pub_type
杂志文章abstract::To ascertain whether any of the well-known effects of intravenous ethanol on pancreatic and gastric secretion could be due to its metabolite--acetaldehyde, a strong cytotoxic and sympathomimetic agent--acetaldehyde was given intravenously for 1 h (50, 100, and 200 mg/kg/h) in seven dogs. Acetaldehyde did not modify pa...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365528009181534
更新日期:1980-01-01 00:00:00
abstract::A case of a Borrmann type 2 advanced gastric cancer with endocrine differentiation is described. Histologically, the cancer was either composed of cells arranged in a tubular pattern or formed solid nests of various sizes. The tubular pattern was composed of a moderately differentiated tubular adenocarcinoma. The hist...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520410005775
更新日期:2004-08-01 00:00:00
abstract:OBJECTIVE:Activating mutations in the GUCY2C gene, which encodes the epithelial receptor guanylate cyclase C, cause diarrhea due to increased loss of sodium chloride to the intestinal lumen. Patients with familial GUCY2C diarrhea syndrome (FGDS) are predisposed to inflammatory bowel disease (IBD). We investigated wheth...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365521.2018.1521867
更新日期:2018-01-01 00:00:00
abstract::Nucleotide pyrophosphatase activity with uridine diphosphoglucose and dephospho-CoA as substrates was demonstrated in normal human serum. The enzyme has a pH-optimum of about 9.6 and is inhibited by EDTA. Phosphodiesterase I (hydrolysis of thymidine-5'-monophospho-p-nitrophenylester) was also found in normal human ser...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract:BACKGROUND:The aim of the study was to diagnose hypolactasia with a higher accuracy than with the traditional H2 breath test. METHODS:We used a combined 13C-lactose 13CO2/H2 breath test, which was performed in 33 patients in whom lactase activity was measured. RESULTS:Lactase activity was reduced in 13 cases. The sen...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365529950172808
更新日期:1999-01-01 00:00:00
abstract::The symptomatic effect of pancreatic enzymes was examined in 37 patients with non-ulcer dyspepsia (NUD) recruited from general practice by means of a 24-day multicrossover model (MCOM) including six treatment periods and five regular interchanges between pancreatic enzymes and placebo. The evaluation was based on a co...
journal_title:Scandinavian journal of gastroenterology
pub_type: 临床试验,杂志文章
doi:
更新日期:1990-03-01 00:00:00
abstract::Fasting plasma levels of immunoreactive gastrin, somatostatin, and pancreatic polypeptide (PP) were determined in 67 patients with an endoscopically proven duodenal, pyloric, or prepyloric ulcer. Pretreatment gastrin (45.6 +/- 53.6 pmol/l, mean +/- S.D.) and somatostatin (54.5 +/- 27.5 pg/ml) did not differ significan...
journal_title:Scandinavian journal of gastroenterology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/00365528209181048
更新日期:1982-01-01 00:00:00
abstract:BACKGROUND:Donor outcome after living donor liver transplantation has not been examined extensively with regard to postoperative abdominal complaints. We wanted to examine the extent and type of abdominal complaints after removal of a part of the liver and gallbladder in living donors as well as potential similarities ...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365521.2010.537685
更新日期:2011-05-01 00:00:00
abstract:BACKGROUND:Ethanol is a well-established 'barrier breaker' in gastric mucosa, but its effects at cellular level remain to be detailed. METHODS:Gastric epithelial cells were isolated from rabbits and cultured to monolayers. Intracellular calcium was measured spectrofluorometrically with fura-2. The patency of gap junct...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520310007855
更新日期:2004-02-01 00:00:00
abstract:OBJECTIVE:A defunctioning stoma is a therapeutic option for colonic or perianal Crohn's disease. In the pre-biologic era the response rate to defunctioning in our unit was high (86%), but intestinal continuity was only restored in 11-20%. Few data exist on the outcome of defunctioning since the widespread introduction ...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365521.2016.1205127
更新日期:2017-03-01 00:00:00
abstract:OBJECTIVE:Pancreatic cancer continues to be an urgent clinical problem. We used the novel DNA methyltransferase inhibitor Zebularine and the histone deacetylase inhibitor SAHA to investigate the epigenetic influence on viability and differentiation of the pancreatic cancer cell lines YAP C, DAN G and Panc-89 in vitro a...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520600874198
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:The role of cholecystokinin (CCK) and gastrin in the development and growth of pancreatic cancer cells is controversial. The aim of this study was to evaluate the role of CCK-8S, gastrin-17, bombesin, and their antagonists on cell lines from patients with pancreatic cancer. METHODS:Cell lines were establish...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/003655299750024742
更新日期:1999-12-01 00:00:00
abstract:OBJECTIVE:A diet high in sugars may promote colorectal carcinogenesis, but it remains uncertain whether high intake of sugars or sucrose confers increased risk of colorectal cancer. The authors investigated the associations of sugars and sucrose intake with colorectal cancer risk in a community-based case-control study...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365521.2013.822091
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:Health literacy (HL) is a concept covering a range of cognitive and social skills that comprises aspects necessary for patients to navigate in the healthcare system. Our study aimed to investigate HL in patients with liver cirrhosis and determine factors associated with low HL. METHODS:Data were collected am...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365521.2018.1545045
更新日期:2018-12-01 00:00:00
abstract::The effect of intraduodenal infusion of amino acids, glucose, fat, HCl, ethanol, or saline on plasma VIP concentration was investigated in 7 normal subjects, 5 post-vagotomy patients, and 12 anaesthetized pigs. Furthermore, the concentrations of VIP in plasma after ingestion of a mixed meal were measured in 6 normal s...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365527709181722
更新日期:1977-01-01 00:00:00
abstract::A Danish study allocated at random 30,970 persons to screening with Hemoccult-II and 30,968 as controls in a population of 140,000 between 45 and 74 years old. Persons with known colorectal cancer, adenoma, and distant spread from all types of cancer were excluded. The test was completed in 20,672 persons from August ...
journal_title:Scandinavian journal of gastroenterology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.3109/00365528709011142
更新日期:1987-08-01 00:00:00
abstract::Antral exclusion was performed in seven adult male Sprague-Dawley rats, which were killed 10 weeks later. Fasting serum gastrin concentrations were almost four times higher than in unoperated controls. There was a slight increase in the thickness of the gastric mucosa, but quantitative electron microscopy showed no si...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365528209181059
更新日期:1982-01-01 00:00:00
abstract:OBJECTIVE:Treatment with 5-aminosalicylic acid (5-ASA) derivatives is one of the main principles in the therapy of uncomplicated mild to moderate inflammatory bowel diseases (IBD). The beneficial effect of 5-ASA in the treatment of IBD is attributed to its anti-inflammatory and anti-oxidant properties within the inflam...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520510015854
更新日期:2005-08-01 00:00:00
abstract::OBJECTIVE. Although precut is considered an useful alternative when standard methods of biliary access have failed, there is some controversy about it's safety. The study aim was to evaluate the effectiveness of needle-knife fistulotomy (NKF) after a difficult biliary cannulation and whether common bile duct (CBD) dia...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365521.2014.898085
更新日期:2014-06-01 00:00:00
abstract::Gastrointestinal hormones are peptides released from neuroendocrine cells in the digestive tract. More than 30 hormone genes are currently known to be expressed in the gut, which makes it the largest hormone-producing organ in the body. Modern biology makes it feasible to conceive the hormones under five headings: The...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章,评审
doi:10.3109/00365521.2015.1025831
更新日期:2015-06-01 00:00:00
abstract:BACKGROUND:The advent of proton-pump inhibitors, and subsequently of the laparoscopic technique, can be assumed to have influenced the use of antireflux surgery in gastro-oesophageal reflux disease. METHODS:Data on antireflux operations carried out in Finland in 1988-93 were obtained from national statistics, and the ...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365529709025074
更新日期:1997-05-01 00:00:00
abstract::The separations and measurements of adenine-adenosine, adenosine monophosphate (AMP), adenosine diphosphate (ADP), adenosine triphosphate (ATP), lipid phosphates (lipid-P), ribonucleic acid (RNA) and deoxyribonucleic acid (DNA) were carried out in the mucosa of the corpus, antrum, and duodenum of patients with decreas...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365527709181689
更新日期:1977-01-01 00:00:00
abstract:OBJECTIVE:The aim of this investigation was to elucidate retrospectively the therapeutic effect of infliximab in patients with active Crohn's disease (CD) under nutritional therapy. MATERIAL AND METHODS:Using a review of the clinical records in 24 nationwide institutions specializing in inflammatory bowel disease, the...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章,多中心研究
doi:10.1080/00365520510023639
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVES:Bile acid (BA) malabsorption may occur after cholecystectomy. Bile may flow more freely into the duodenum after endoscopic sphincterotomy (EST), in part resembling the situation after cholecystectomy. The (75)SeCHAT test used to diagnose BA malabsorption correlates inversely with synthesis and faecal excreti...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520903131981
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:In patients with cirrhosis and bacterial infection there is impaired coagulation and a heparin effect on thromboelastography (TEG). Our aim was to assess the presence of a heparin effect on heparinase I-modified TEG in patients before and after transjugular intrahepatic portosystemic shunt (TIPS). Our hypothe...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365520903342174
更新日期:2009-01-01 00:00:00
abstract:OBJECTIVE:Gastric cancer confined to the muscularis propria (mp) has a favorable prognosis, but still belongs to the advanced category. Many oncologists have difficulties in selecting treatment modalities owing to the confused situation of mp cancer. To clarify the therapeutic strategy, the clinicopathological characte...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.1080/00365520410009302
更新日期:2005-04-01 00:00:00
abstract::During the period 1984-87, 472 patients with histologically or cytologically verified carcinoma of the pancreas (n = 442) or the papilla of Vater (n = 30) were accrued. Diagnostic investigations were performed in accordance with the ordinary routines of 38 Norwegian hospitals. Jaundice at presentation, found in 47% of...
journal_title:Scandinavian journal of gastroenterology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.3109/00365529209000081
更新日期:1992-04-01 00:00:00
abstract:BACKGROUND:Plasminogen activators (PA) may be released by the gut and eliminated by the liver. Patients with liver disorders or malignancy often have abnormal plasma levels of PAs. Some tumours may produce PAs. METHODS:In patients undergoing gastric surgery for malignant (n = 18) or benign (n = 21) disorders., blood d...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365529609031982
更新日期:1996-02-01 00:00:00
abstract::Blood flow in the small intestine was assessed in 48 patients by laser Doppler flowmetry. Mucosal and serosal flowmeter signals were compared during 'resting' conditions, vascular occlusion, and reactive hyperemia. Serosal flowmeter recordings were compared with the total blood flow of a bowel segment as measured by v...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365528609011131
更新日期:1986-09-01 00:00:00
abstract::In a consecutive series of 46 possible candidates for total colectomy, mucosal proctectomy, and ileal reservoir to an anal anastomosis, we have compared the clinical outcome of group I, with a long efferent leg (12 cm), and group II, with a short efferent leg (3-5 cm). The surgical procedure was done in three steps: f...
journal_title:Scandinavian journal of gastroenterology
pub_type: 杂志文章
doi:10.3109/00365528509088877
更新日期:1985-11-01 00:00:00