BACKGROUND/AIMS: ALADIN gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients has been known to show alacrima (decreased secretion of tear). However, the genetic mechanism between achalasia and alacrima has not been defined yet. We postulated that ALADIN gene may be involved in the occurrence of early-onset achalasia; thus, we investigated the correlation of ALADIN gene in early-onset achalasia patients. METHODS: From 1989 to 2007, patients who were diagnosed as primary achalasia before age 35 were enrolled. All of the enrolled patients were asked for (1) blood sampling for DNA, (2) Shirmer test and (3) dysphagia questionnaires. RESULTS: The ALADIN gene in exon 1, 2, 10, 11 and 12 from 19 patients was investigated (M:F = 12:7). The mean age of patients at diagnosis was 27 +/- 5 (15-35) years old. Eight out of 19 (42%) showed alacrima by the positive Shirmer test. In spite of thorough exam in the genetic study, there was no definite abnormal genetic finding in this study. CONCLUSIONS: A considerable number of achalasia patients showed alacrima. Due to the limitation of this study, it is difficult to conclude that early-onset achalasia may have significant correlations with the ALADIN gene.
Deglutition Disorders ; DNA ; Esophageal Achalasia ; Exons ; Eye Diseases, Hereditary ; Humans ; Lacrimal Apparatus Diseases

Free Tissue Flaps ; Humans ; Mandible ; Osteogenesis ; Osteolysis ; Osteolysis, Essential

BACKGROUND/AIMS: Endoscopic en-bloc resection of the large colorectal lesions is technically difficult. The aim of this study is to evaluate the usefulness of combined endoscopic submucosal dissection (ESD) and snare resection for treating colorectal lesions. METHODS: We enrolled 23 patients (M:F=14:9, age range: 46~76 years) with 25 colo rectal tumors that were around or above 20 mm in diameter. A combined treatment of ESD and snare resection was performed. RESULTS: The mean size of the 25 lesions was 22.6+/-8.2 mm (range: 15.0~44.0 mm). Ten lesions were laterally spreading tumors and 15 lesions were found in the rectum. On the histopathologic examination, 16 lesions were adenocarcinoma, 2 lesions were villous adenoma, 1 lesion was a villotubular adenoma, 5 lesions were tubular adenoma and 1 lesion was a hyperplastic polyp. The mean resection time was 27+/-22 min (range: 10~91 min). En bloc resection was possible for 19 lesions (76%). Of these, 18 specimens showed clear resection margins and 1 showed a positive deep resection margin. Of the 6 piecemeal resection cases, 2 showed positive lateral resection margins. Therefore, an 88% tumor free resection rate was obtained. CONCLUSIONS: Combined ESD and snare resection may be an effective and safe modality for the resection of large colorectal lesions.
Adenocarcinoma ; Adenoma ; Adenoma, Villous ; Colorectal Neoplasms ; Humans ; Polyps ; Rectal Neoplasms ; Rectum ; SNARE Proteins*

Helicobacter pylori (H. pylori) has been etiologically linked with primary gastric mucosa-associated lymphoid tissue (MALT) lymphoma and gastric carcinoma; however, synchronous and metachronous development of these two neoplasm is a rare finding. The metachronous development of early gastric cancer following gastric MALT lymphoma is even more exceptional, and less than 10 cases have been reported on the literature. We encountered one case of early gastric cancer which occurred 38 months after the complete remission of H. pylori associated gastric MALT lymphoma. We report here on this case along with a review of the literature.
Helicobacter pylori* ; Helicobacter* ; Lymphoid Tissue ; Lymphoma ; Lymphoma, B-Cell, Marginal Zone* ; Stomach Neoplasms*

BACKGROUND/AIMS: The role of double balloon enteroscopy (DBE) is still evolving. The aim of this study was to compare the diagnostic yield of DBE with that of small bowel series (SBS). METHODS: We enrolled patients with suspected small bowel disease consecutively, and performed both DBE and SBS in all patients. RESULTS: Eighteen patients (M:F=12:6, 14-82 years) were included. Indications for small bowel evaluation were obscure gastrointestinal bleeding (10), abdominal pain (5), diarrhea (2) and abnormal CT finding (1). Of 10 obscure gastrointestinal bleeding patients, 6 showed the same findings in both studies. However, 4 showed negative findings in SBS while DBE detected erosions or ulcerations. Of 5 abdominal pain patients, 3 showed the same results in both studies. However, 2 demonstrated different results. One was suspected of early Crohn's disease in SBS, but proved to be normal in DBE, and the other was suspected of malignancy in SBS but was suspected of benign ulcers in DBE. Of 2 chronic diarrhea patients, one was diagnosed as Crohn's disease in both studies. The other was suspected of tuberculosis in SBS but diagnosed as lymphangiectasia by DBE with biopsy. One patient with jejunal wall thickening in CT proved to be normal in both DBE and SBS. There were no serious complications associated with DBE and SBS. CONCLUSIONS: DBE is better than SBS in terms of diagnostic accuracy. DBE may become an important method for the evaluation of small bowel diseases.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Endoscopes, Gastrointestinal ; *Endoscopy, Gastrointestinal ; Female ; Humans ; Intestinal Diseases/*diagnosis/radiography ; *Intestine, Small/pathology/radiography ; Male ; Middle Aged

BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) is a novel technique for an en bloc resection of mucosal tumors over 2 cm in diameter. The aim of this study was to evaluate the efficacy, resection time and complications of ESD using a needle knife (needle-ESD) with a comparison those encountered using endoscopic mucosal resection (EMR) after a circumferential mucosal incision with a needle knife (needle-EMR). METHODS: Thirty-three consecutive patients with early gastric cancer or gastric adenoma who underwent needle-ESD at the Asan Medical Center between December 2004 and March 2005 were retrospectively reviewed, and compared with the data from 33 consecutive patients who underwent needle-EMR between March 2001 and June 2001. RESULTS: Both the enbloc resection and complete resection could be achieved by needle-ESD in all the patients, while the corresponding percentages were 76% (en bloc resection, 25/33) and 94% (complete resection, 31/33) in the needle-EMR group. The resection time was longer (22.7 vs. 11.6 min) in the needle-ESD group than in the needle-EMR group. However, there was no significant difference in the complication rate between the two groups. CONCLUSIONS: Compared with the needle-EMR, needle-ESD has significant benefits, particularly regarding the en bloc and complete resection rate despite the technical difficulty and longer resection time.
Adenoma ; Chungcheongnam-do ; Humans ; Needles* ; Retrospective Studies ; Stomach Neoplasms

BACKGROUND: Constipation occurs frequently in diabetes mellitus (DM). However, there are few reports that investigated the characteristics of constipation associated with DM. The purpose of this study was to evaluate the clinical features of constipation associated with DM. METHODS: Among constipated patients who visited Asan Medical Center from January 2000 to December 2004, 45 patients with DM (DM group) and 104 patients without DM (non-DM group) were included in this study. We reviewed the clinical presentation, results of anorectal manometry, colon transit time study, and defecogram. We also analyzed the response to biofeedback therapy. RESULTS: The severity of constipation symptoms before treatment was not different between DM and non-DM group. Patients with colon transit time over 56 hours were more frequent in DM group than in non-DM group (21/45, 46.7% vs. 31/104, 29.8% ; p=0.047). Among DM group, colon transit time and the duration of DM showed positive correlation (r=0.431, p=0.003). The resting anal sphincter pressure was significantly lower in DM group than in non-DM group (43.5+/-21.5 mmHg vs. 51.7+/-22.6 mmHg ; p=0.048). The results of defecography were similar between DM and non-DM group. Successful responses to biofeedback therapy were not different between DM and non-DM group (19/34, 55.9% vs. 43/79, 54.4% ; p=0.887). CONCLUSIONS: Slow transit constipation was more frequent in DM group than in non-DM group. The successful responses to biofeedback therapy appear to be similar between DM and non-DM group.
Anal Canal ; Biofeedback, Psychology ; Chungcheongnam-do ; Colon ; Constipation* ; Defecography ; Diabetes Mellitus* ; Humans ; Manometry ; Time and Motion Studies

BACKGROUND/AIMS: Mucosal atrophy is defined as the loss of appropriate glands in the gastric mucosa; such a finding suggests that this malady is associated with an excessive ratio of apoptotic cells to proliferating epithelial cells. However, exactly why the genesis and progression of the atrophic changes takes place in the gastric mucosa of some, but not all of the subjects infected with H. pylori, is seldom described. TGF-beta1 (transforming growth factor-beta1) is a potent growth inhibitor in epithelial tissues, and it also induces apoptosis of epithelial cells. We evaluated its role in the pathogenesis of atrophic gastritis by analyzing the expression of TGF-beta1. METHODS: The subjects were 14 patients with chronic atrophic gastritis and 43 patients with chronic gastritis. The exclusion criteria were as follows; those patients who had a previous history of gastrectomy, PPI, H. pylori eradication, NSAIDs, stomach cancer and/or a severe bleeding tendency. Biopsy specimens were obtained from the antrum, angle and body of the stomach, respectively and we performed RT-PCR for determining the expression of TGF-beta1 mRNA with using an additional angle specimen. RESULTS: The clinical parameters were similar in both groups. The rate of H. pylori infection was also similar in both groups. The TGF-beta1 levels were significantly higher for the chronic atrophic gastritis group than for the chronic gastritis group. CONCLUSIONS: The results that the TGF-beta1 levels are significantly higher in the chronic atrophic gastritis group suggest that TGF-beta1 is associated with the development of atrophic gastritis. The apoptotic process induced by TGF-beta1 may be linked to the development of atrophic gastritis.
Anti-Inflammatory Agents, Non-Steroidal ; Apoptosis ; Atrophy ; Biopsy ; Epithelial Cells ; Gastrectomy ; Gastric Mucosa ; Gastritis ; Gastritis, Atrophic* ; Hemorrhage ; Humans ; RNA, Messenger ; Stomach ; Stomach Neoplasms ; Transforming Growth Factor beta1*

BACKGROUND: The aims of this study were to evaluate whether genotypes of Helicobacter pylori are different between the gastric antrum and duodenal bulb in order to assess the roles of duodenal H. pylori strains in development of duodenal ulcer. METHODS: Forty-eight H. pylori infected patients (duodenal ulcer 28, chronic gastritis 20) were included for the study. Biopsy specimens were taken separately from the antrum and duodenal bulb for the histologic examination and H. pylori culture. cagA, vacA, and iceA genotypes of H. pylori were examined by polymerase chain reaction and H. pylori DNA subtypes by random amplified polymorphic DNA (RAPD) fingerprinting. RESULTS: H. pylori genotypes were not significantly different between antrum and duodenal bulb of the duodenal ulcer and chronic gastritis. RAPD fingerprinting showed different H. pylori strains between the gastric antrum and duodenal bulb in 2 patients with duodenal ulcer. Most prevalent genotype was cagA+ vacA s1/m1 iceA1 in duodenal ulcer (15/16). CONCLUSION: The host factor or other genotypes may play the major roles in duodenal ulcerogenesis compared with H. pylori genotype itself.
Biopsy ; Dermatoglyphics ; DNA ; Duodenal Ulcer* ; Gastritis ; Genotype* ; Helicobacter pylori* ; Helicobacter* ; Humans ; Polymerase Chain Reaction ; Pyloric Antrum ; Ulcer

BACKGROUND/AIMS: Intestinal tuberculosis can be difficult to diagnose because it may mimic many other intestinal diseases. The aim of this study was to evaluate the diagnostic yield of colonoscopic biopsy and frequency of concomittent extra-intestinal tuberculosis in intestinal tuberculosis. METHODS: The medical records of 225 consecutive patients with intestinal tuberculosis (81 men, 144 women; mean age 40.6 yrs) were analyzed retrospectively. RESULTS: Histological examination of colonoscopic biopsy specimens revealed granulomas in 163 (72.4%) of the 225 patients. However, caseous necrosis was found in only 25 (11.1%) patients, and acid-fast bacilli (AFB) were noted in 39 (17.3%) of the 225 patients. Mycobacterium tuberculosis was isolated from the culture of biopsy specimens in 52 (29.3%) of 177 patients. Eighty-four patients (37.3%) had concomitant extra-intestinal tuberculosis and 67 (29.8%) showed active pulmonary tuberculosis. Histological examination of the biopsy specimens enabled the diagnosis of intestinal tuberculosis by the presence of either caseating granulomas or AFB in 52 (23.1%) patients. Combination of histological examination and Mycobacterium culture established the diagnosis in 87 (38.7%) patients. Before getting the result of Mycobacterium culture, the diagnosis could be made, by either histological examination or the presence of extra-intestinal tuberculosis in 107 (47.6%) patients. Combination of caseating granulomas, AFB staining, Mycobacterium culture, and the presence of extra-intestinal tuberculosis resulted in the diagnosis in 126 (56.0%) patients. CONCLUSIONS: To increase the diagnostic yield, AFB staining and Mycobacterium culture should be routinely performed on biopsy specimens in addition to routine histological examination for caseating granulomas.
Adolescent ; Adult ; Aged ; *Biopsy, Needle ; *Colonoscopy ; English Abstract ; Female ; Humans ; Intestinal Diseases/*diagnosis ; Male ; Middle Aged ; Mycobacterium tuberculosis/isolation & purification ; Tuberculosis, Gastrointestinal/complications/*diagnosis ; Tuberculosis, Pulmonary/complications