In the January 2004 issue of the journal, we published a debate on the GI match (1,2). Our intent was to call attention to the inequities and inconsistencies of the present selection system for training positions in gastroenterology and to create an opportunity for an open dialogue on the issue.
Purpose: Classic traditional genetic diseases resulting from rare mutations in a single gene typically follow a specific pattern of transmission. We and others have previously shown that IBS aggregates in families and twin studies suggest that there is a genetic basis for IBS. Formal construction and analysis of transmission of IBS through pedigrees has not been performed to determine whether IBS follows a specific Mendelian pattern of inheritance. Primary Aim: To determine if there is evidence for a major gene involved in the etiology of IBS using complex segregation analysis. Methods: A large, family case-control study was conducted of outpatients with IBS (probands) who completed a bowel symptom questionnaire and provided contact information for first-degree relatives (FDRs). FDRs were then contacted by mail to complete a questionnaire to determine IBS status as defined by meeting Rome I or II criteria for IBS or reporting a physician diagnosis of IBS. Using the questionnaire data, pedigrees were constructed. Maximum likelihood segregation analysis was performed using the P.A.P. statistical package. Results: Data were collected from 499 case-probands. Based on information provided by the probands, in the 499 pedigrees, there were a total of 3509 family members in their family structure. Mailings were sent to nearly 2300 living FDRs permitted contact. Symptom data was collected from 1560 relatives, of which 763 (49%) were affected with IBS. Pedigrees were constructed using data from participating relatives as well as proband-provided IBS status for non-participating relatives whereby unknowns were counted as unaffected. By segregation analysis, the major locus models converged, but the mixed and general models did not. The genetic models were clearly a better fit than the sporadic model. The “best” model was the autosomal dominant model. The analysis was repeated using only proband-provided data, without changes in overall findings. Conclusion: The pattern of IBS in families does not appear sporadic, however, the lack of convergence of the models suggests that transmission of IBS through families does not appear consistent with a major gene, Mendelian disorder. The above findings suggest that if there is a genetic basis for IBS, IBS is a complex genetic disorder resulting from genes of modest effect and environment. Supported by NIH DK066271.
Purpose: Menetrier's disease (MenD) is a rare, acquired disorder defined as giant gastric folds in conjunction with a protein-losing enteropathy, hypoor achlorhydria and histologic features of massive foveolar hyperplasia and cystic dilatation. The etiology and epidemiology of this disorder are unknown. AIM: To evaluate the clinical, endoscopic, histologic and radiologic parameters of MenD. Methods: A retrospective investigation of all patients diagnosed with MenD at Mayo Clinic, Rochester between 1975 and 2005. Medical records were reviewed to identify demographics, clinical history, laboratory and imaging parameters, histopathology, additional medical diagnoses, and follow-up course. The diagnosis of MenD was based on a combination of clinical, endoscopic, radiologic and histologic features. Clinical characteristics of MenD were analyzed using descriptive statistics. Results: 80 patients (48 male, age 56 ± 15 years, BMI 24 ± 5 kg/m2) were diagnosed with MenD between 1975 and 2005. The most frequent presenting complaint was abdominal pain (64%) followed by nausea (54%) and weight loss ≥ 10 lbs (54%). Twenty patients (25%) had a pre-existing psychiatric illness prior to the diagnosis of MenD. Twelve patients (15%) had concomitant diabetes mellitus. Four patients (5%) had a pre-existing connective tissue disorder. Nine patients (11%) had either concomitant hypo- or hyperthyroidism. Ulcerative colitis and celiac disease were not commonly found. The mean total protein level at diagnosis was 5.5 ± 1.0 g/dL. The mean albumin level at diagnosis was 3.0 ± 0.7 g/dL. The mean gastrin level at diagnosis was 146 ± 110 pg/mL. Giant gastric folds were found in the body and fundus in 25 patients (33%), gastric body only in 13 (17%), fundus only in 3 (4%), entire stomach in 14 (18%) and gastric antrum only in 3 (4%) patients. Gastric ulcers were found in 4 patients (5%). Sixty-seven patients (84%) had gastric biopsies performed at our institution. The most common histologic finding was massive foveolar hyperplasia (43%). The gastric antrum was involved in 14/45 patients (31%) on radiographic imaging. We identified 7 patients (9%) who developed gastric adenocarcinoma. Conclusion: In our cohort of patients with MenD, the predominant symptoms at presentation were abdominal pain, nausea and weight loss ≥ 10 lbs. MenD has traditionally been associated with antral sparing, although our study showed that 22% had endoscopic evidence of antral involvement. Inflammatory bowel disease and celiac disease were not commonly found in our cohort. As of 2005, we identified 9% of MenD patients who were subsequently diagnosed with gastric adenocarcinoma.
Purpose: In chronic constipation, disturbed gastric and small bowel transit as well as abnormal esophageal motility has been demonstrated. The aim of this study was to determine if the prevalence of dyspepsia is higher in subjects with functional constipation than diarrhea. We conducted a cross-sectional study to examine the prevalence of upper gastrointestinal symptoms in subjects with chronic colonic symptoms. Methods: 1069 employees of an integrated healthcare system were mailed a validated questionnaires inquiring about their upper and lower gastrointestinal symptoms (validated Bowel Disease Questionnaire). Definitions of dyspepsia subgroups (including dysmotility, reflux and ulcer-like), functional constipation and diarrhea were based on the Rome I criteria. Reflux-like dyspepsia was defined as having dyspepsia according to the Rome criteria with heartburn and/or reflux once a week or more. Results: 723 subjects (response rate 72%) returned the survey (age range 24–77). One hundred and forty (19.4%) subjects reported constipation and 10.9% reported diarrhea. Symptoms of dyspepsia were reported by 14.7% of subjects (6.2% ulcer-like, 6.1% dysmotility-like, and 9.4% reflux-like dyspepsia). Controlling for age, constipation was more common in females (OR 1.95, 95% CI 1.29-2.95, p < 0.01), whereas diarrhea and dyspepsia (including its subgroups) were not associated with gender (all p>41). Dyspepsia (including ulcer-like and reflux-like) was slightly more common in subjects with constipation than diarrhea but the differences were not significant (all p>0.25) (Table). On individual symptom analysis, heartburn (7% vs. 3%) and acid regurgitation (4% vs. 2%) were more common in subjects with constipation than diarrhea, but these differences were not significant (all p >0.23)Table: Prevalence and 95% CI of dyspepsia and dyspepsia subtypes in subjects with constipation and diarrheaConclusions: There is considerable overlap of upper gastrointestinal symptoms in both functional constipation and diarrhea. The prevalence of symptoms of dyspepsia and its subgroups are not significantly higher in subjects with constipation than diarrhea.
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