Abstract:
BACKGROUND:It is not known if genetic background, characteristics at diagnosis, physical and psychological well-being, and adherence to a gluten-free diet are comparable between patients with familial or sporadic celiac disease. These issues were investigated in a follow-up study. METHODS:Altogether 1064 patients were analyzed for celiac disease-associated serology, predisposing HLA-DQ, and non-HLA genotypes. Medical data were collected from patient records and supplementary interviews. Current symptoms and quality of life were further evaluated with the Gastrointestinal Symptom Rating Scale (GSRS), the Psychological General Well-Being questionnaire (PGWB), and Short Form 36 (SF-36) questionnaires. RESULTS:Familial and sporadic groups differed (P < 0.001) in the reason for diagnosis and clinical presentation at diagnosis, familial patients being more often screen-detected (26% vs. 2%, P < 0.001) and having less often gastrointestinal (49% vs. 69%) and severe symptoms (47% vs. 65%). The groups were comparable in terms of histological damage, frequency of malabsorption, comorbidities, childhood diagnoses, and short-term treatment response. At the time of the study, familial cases reported fewer symptoms (21% vs. 30%, P = 0.004) and lower prevalence of all (78% vs. 86%, P = 0.007), neurological (10% vs. 15%, P = 0.013), and dermatological (9% vs. 17%, P = 0.001) comorbidities. Dietary adherence and GSRS scores were comparable, but familial cases had better quality of life according to PGWB and SF-36. High-risk genotype HLA-DQ2.5/DQ2.5 was more frequent among familial cases, and four non-HLA SNPs were associated with familial celiac disease. CONCLUSIONS:Despite the greater proportion of high-risk genotypes, familial cases had milder symptoms at presentation than did sporadic cases. Worse experience of symptoms and poorer quality of life in sporadic disease indicate a need for intensified support.
journal_name
Dig Dis Scijournal_title
Digestive diseases and sciencesauthors
Airaksinen L,Myllymäki L,Kaukinen K,Saavalainen P,Huhtala H,Lindfors K,Kurppa Kdoi
10.1007/s10620-020-06490-1subject
Has Abstractpub_date
2020-07-23 00:00:00eissn
0163-2116issn
1573-2568pii
10.1007/s10620-020-06490-1pub_type
杂志文章abstract::A 65-year-old man with Crohn's disease died of acute myeloblastic leukemia after treatment for 11.8 years with 6-mercaptopurine, 1.5 mg/kg/day (100 mg/day). On cytogenetic analysis, most of the malignant bone marrow cells had deletion of chromosome 7, the most frequently reported cytogenetic abnormality in chemotherap...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1018896006155
更新日期:1998-08-01 00:00:00
abstract:BACKGROUND:Birth characteristics, including weight and gestational age, may be associated with risk of Barrett's esophagus (BE), the only known precursor for esophageal adenocarcinoma; however, data are limited. AIMS:To examine associations between various birth characteristics and BE, and whether these associations a...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-015-3967-3
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND AND AIM:Diabetes is the main cause of gastroparesis accompanying decreased neuronal nitric oxide synthase (nNOS) in myenteric ganglia of the stomach. Decreased nNOS expression in the stomach also results from defects in apolipoprotein E (ApoE), which is secreted by astrocytes and has neuroprotective effects ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-017-4820-7
更新日期:2017-12-01 00:00:00
abstract::Diffuse esophageal spasm is an uncommon motility disorder that is found in less than 5% of patients undergoing esophageal motility testing for dysphagia. It is defined manometrically by the presence of 20% or more simultaneous contractions in the distal esophageal body with normal peristalsis. This motility abnormalit...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1024131814888
更新日期:2003-07-01 00:00:00
abstract::Our purpose is to focus attention on the cancer family history, coupled with an understanding of the natural history and extracolonic tumor spectrum of familial adenomatous polyposis (FAP), through a family study. This family report provides an example of how colorectal cancer (CRC) can be prevented by knowledgeable g...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1012330626600
更新日期:2001-11-01 00:00:00
abstract::This manuscript is a secondary analysis of a large multicenter randomized controlled trial. The primary study is Cross RK et al., A Randomized Controlled Trial of TELEmedicine for patients with Inflammatory Bowel Disease (TELE-IBD). Am J Gastroenterol, 2019 Mar. ...
journal_title:Digestive diseases and sciences
pub_type: 已发布勘误
doi:10.1007/s10620-019-05953-4
更新日期:2020-02-01 00:00:00
abstract::A patient with several episodes of jaundice associated with sulfamethoxazole therapy is described. In contrast to the histologic picture of hepatocellular necrosis with or without cholestasis that is generally associated with sulfonamide hepatotoxicity, in the present case a relatively pure cholestatic pattern was fou...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01316868
更新日期:1981-08-01 00:00:00
abstract::Basal gastric acid output was analyzed prospectively in 110 patients with endoscopically documented duodenal ulcer disease to determine the frequency of gastric acid hypersecretion in patients with bleeding versus nonbleeding ulcers. Thirty-eight patients with stigmata of an actively or recently bleeding duodenal ulce...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01307543
更新日期:1993-02-01 00:00:00
abstract::Transient delayed gastric emptying is reported as a frequent complication following pancreas-preserving pancreaticoduodenectomy (PPW). We placed serosal electrodes on the stomach of a patient undergoing PPW. Myoelectric recordings were obtained postoperatively and correlated with simultaneous radionuclide liquid gastr...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01536411
更新日期:1990-10-01 00:00:00
abstract:BACKGROUND:Approximately 10-28 % of patients experience adverse drug reactions related to treatment with thiopurines. The most serious reaction is myelosuppression, typically manifested as leucopenia, which occurs in approximately 2-5 % of patients. Other adverse drug reactions that often accompany thiopurine therapy a...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-012-2163-y
更新日期:2012-09-01 00:00:00
abstract::The release of intestinal gastrin was examined using the isolated vascularly and luminally perfused rat duodenum. Results show that duodenal gastrin was released into both the intestinal lumen and circulation. The basal release of immunoreactive gastrin (IRG) into the lumen was 23.3 +/- 1.8 pg/min and that into the va...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1018871731595
更新日期:1997-03-01 00:00:00
abstract::The purpose of the present study is to show anomalies of the plasma cAMP response of patients with hepatic disorders to a single injection of a low dose of glucagon (1 microgram/kg body wt). The response was markedly blunted in patients with liver cirrhosis and potentiated in patients with acute or chronic hepatitis. ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01308330
更新日期:1980-09-01 00:00:00
abstract::Among the multifactorial causes of undernutrition in old age, gastrointestinal mucosa altered function and resulting specific malabsorption are the most relevant. Despite numerous studies that have dealt with the effects of aging on the digestive tract of mammals, results showed discrepancies in terms of proliferation...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/b:ddas.0000037826.94345.f8
更新日期:2004-08-01 00:00:00
abstract::We describe the first reported case of mantle zone lymphoma of the colon presenting as diffuse ileocolitis simulating severe inflammatory bowel disease. This case serves to illustrate the importance of immunohistochemistry in establishing the diagnosis of lymphoma in extranodal sites. ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01300394
更新日期:1992-06-01 00:00:00
abstract::The role of mucosal T-cell activation in HIV-associated enteropathy is uncertain. Twenty Zambian patients with AIDS and chronic diarrhea were studied, as were nine controls. Distal duodenal biopsies were taken at endoscopy. Morphometric analysis and dual color immunofluorescence staining were performed. Villous height...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1010738818127
更新日期:2001-05-01 00:00:00
abstract::Patients with persistently normal ALT affected with HCV-related chronic hepatitis exist. The natural history of liver disease in these patients was demonstrated to be very slow and progression to cirrhosis likely absent. The case we report describes the occurrence of hepatocellular carcinoma (HCC) in a patient with pe...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1020527118782
更新日期:2002-11-01 00:00:00
abstract::Some endoscopic trainees find it difficult to manipulate an endoscope's controls, possibly due to small hand size. To assess this, a survey was mailed to all gastroenterology fellows in the US. Two hundred twenty-seven of 1,295 (17.5%) fellows responded. Median surgical glove size was 7.5. Ninety-three respondents (41...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-007-0069-x
更新日期:2008-07-01 00:00:00
abstract:BACKGROUND:The NIH-sponsored Patient-Reported Outcomes Measurement Information System (PROMIS) Gastrointestinal (GI) Symptoms scales were developed to assess patients' GI symptoms in clinical settings. AIMS:To assess responsiveness to change and provide minimally important difference (MID) estimates for the PROMIS GI ...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-017-4499-9
更新日期:2017-05-01 00:00:00
abstract::To determine if organic anions contribute to the diarrhea of inflammatory bowel disease, we measured osmolality, electrolytes, short-chain fatty acids, lactic acid, and some Krebs cycle anions in 24-hr fecal collections from 18 patients with chronic ulcerative colitis, 20 with Crohn's disease of the colon, and 16 norm...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01536987
更新日期:1988-11-01 00:00:00
abstract::Infection with Helicobacter increases the transcellular passage of macromolecules across the epithelium, and this effect can be prevented by a gastroprotective agent rebamipide. The aim was to gain insight into the mechanisms involved. The HT29-19A intestinal epithelial cells grown on microporous filters as monolayers...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1010664626431
更新日期:2001-07-01 00:00:00
abstract::The relationship between the GOT/GPT ratio in nonviral liver disorders and underlying physical condition and life-style were evaluated. The subjects were 12,808 male railway company workers who underwent an annual health checkup. Nonviral liver disorders were defined as elevated transaminases (GOT > 76 IU/liter or GPT...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1023/a:1017959801493
更新日期:2002-03-01 00:00:00
abstract::Ten patients were prospectively studied using 99mTc-PIPIDA imaging to evaluate the effects of fasting and parenteral alimentation on gallbladder function. Three of ten patients had initial nonvisualization of the gallbladder for up to 2 hr, yet had normal visualization on repeat imaging performed after resumption of o...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01312557
更新日期:1983-08-01 00:00:00
abstract::The diagnostic accuracy of two different methods of sectioning rectal biopsies was evaluated prospectively. The frequency of focal and diffuse findings in more than 80 serial sections from a limited portion of the well-oriented areas of 74 biopsies was compared with that found in three or more step sections distribute...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01295652
更新日期:1982-05-01 00:00:00
abstract::The morphine-Prostigmin test (MPT) has been advocated as a diagnostic test for identifying patients with papillary stenosis. We studied 14 patients referred for possible papillary stenosis with the MPT and ERCP sphincter of Oddi manometry. The response to the MPT (symptoms, serum amylase/lipase values) was evaluated b...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01299827
更新日期:1979-06-01 00:00:00
abstract:BACKGROUND:No study has evaluated current scoring systems for their accuracy in predicting short and long-term outcome of alcoholic hepatitis in a US population. METHODS:We reviewed electronic records for patients with alcoholic liver disease (ALD) admitted to Parkland Memorial Hospital between January 2002 and August...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-013-3020-3
更新日期:2014-07-01 00:00:00
abstract::To investigate the role of heredity in alcoholic pancreatitis, an HLA typing study has been performed. Patients with alcoholic pancreatitis exhibited an increased frequency of HLA Bw 39 when compared with the general population [13.6% vs 3.3%, P (corrected) less than 0.02; relative risk 4.7]. Alcoholics without pancre...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/BF01312945
更新日期:1984-08-01 00:00:00
abstract:BACKGROUND:Enhanced cell expression of MAdCAM-1 is critical in tissue recruitment of lymphocytes in response to stimuli expressing the α4β7 integrin. MAdCAM-1 is well characterized in gut mucosa with emerging evidence of hepatic expression. AIMS:(i) Compare quantitative/semi-quantitatively MAdCAM-1 expression in relat...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-013-2755-1
更新日期:2013-09-01 00:00:00
abstract:BACKGROUND:Fibromyalgia (FM) is a disorder characterized by widespread chronic pain as core symptom and a broad range of comorbidities. Despite the prevalence of gastrointestinal (GI) comorbidities in patients with FM, GI functions have rarely been investigated in animal models of FM. AIMS:The purpose of the present s...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章
doi:10.1007/s10620-019-05577-8
更新日期:2019-09-01 00:00:00
abstract::In a double-blind study on 19 patients with the diagnosis of chronic pancreatitis, the effects of treatment with a granulated pancreatic enzyme preparation (Pankreon) were compared with those of placebo administration. One week of treatment with each preparation was preceded by one week without any medication. The pat...
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/BF01315137
更新日期:1983-02-01 00:00:00
abstract:BACKGROUND:Although endoscopic submucosal dissection (ESD)-induced ulcers heal faster and recur less often than non-iatrogenic gastric ulcers, the optimal dosage and duration of proton pump inhibitor treatment for ESD-induced ulcers remain unclear. AIMS:To evaluate the efficacy of half-dose rabeprazole on endoscopic s...
journal_title:Digestive diseases and sciences
pub_type: 杂志文章,随机对照试验
doi:10.1007/s10620-012-2436-5
更新日期:2013-04-01 00:00:00