Publications (3)1.96 Total impact

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    ABSTRACT: Behcet's disease (BD) is a rare and life-long disorder characterized by inflammation of blood vessels throughout the body. BD was originally described in 1937 as a syndrome involving oral and genital ulceration in addition to ocular inflammation. Intestinal BD refers to colonic ulcerative lesions documented by objective measures in patients with BD. Many studies have shown that over 40% of BD patients have gastrointestinal complaints. Symptoms include abdominal pain, diarrhea, nausea, anorexia and abdominal distension. Although gastrointestinal symptoms are common, the demonstration of gastrointestinal ulcers is rare. This so-called intestinal BD accounts for approximately 1% of cases. There is no specific test for BD, and the diagnosis is based on clinical criteria. The manifestations of intestinal BD are similar to those of other colitis conditions such as Crohn's disease or intestinal tuberculosis, thus, it is challenging for gastroenterologists to accurately diagnose intestinal BD in patients with ileo-colonic ulcers. However, giant ulcers distributed in the esophagus and ileocecal junction with gastrointestinal hemorrhage are rare in intestinal BD. Here, we present a case of untypical intestinal BD. The patient had recurrent aphthous ulceration of the oral mucosa, and esophageal and ileo-colonic ulceration, but no typical extra-intestinal symptoms. During examination, the patient had massive acute lower gastrointestinal bleeding. The patient underwent ileostomy after an emergency right hemicolectomy and partial ileectomy, and was subsequently diagnosed with incomplete-type intestinal BD by pathology. The literature on the evaluation and management of this condition is reviewed.
    01/2014; 6(1):27-31. DOI:10.4253/wjge.v6.i1.27
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    ABSTRACT: Objective: The study aimed to investigate the relationship between gastroduodenal disease and the diversity of the cagA 3' variable region and the amino acid polymorphisms in the Glu-Pro-Ile-Tyr-Ala (EPIYA) segments of the CagA C-terminal region of Helicobacter pylori (H. pylori). Methods: Gastric mucosal specimens from 170 patients in our center (Nanjing, Jiangsu Province, China) were collected and the genomic DNA of the H. pylori strains was extracted directly from biopsied specimens. Polymerase chain reaction (PCR) was used to amplify the cagA gene, and diversity in its 3' variable region was assessed by direct sequencing. Results: A total of 154 (90.6%) H. pylori isolates were cagA-positive, but the presence of this gene alone was not associated with the type of gastroduodenal disease. A total of 151 (88.8%) strains had the East Asian type EPIYA-D sequence, most of which were of ABD subtype. Three isolates from patients with chronic gastritis possessed the EPIYA-C segment. The sequences flanking the EPIYA motifs contained polymorphisms at seven residues, among which amino acid positions 878 and 879 had a statistically significant association with gastric cancer (P = 0.021). Amino acid change from glycine to aspartic acid at residue 968 was present only in patients with gastric cancer (4/20) (P < 0.001). Conclusions: Most H. pylori strains present in our study are of the CagA-ABD subtype. Polymorphisms at amino acids 878 and 879 flanking the EPIYA-A motif are statistically associated with gastric cancer.
    Journal of Digestive Diseases 03/2013; 14(7). DOI:10.1111/1751-2980.12056 · 1.96 Impact Factor
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    ABSTRACT: To screen for potential mutations of LKB1 gene in Chinese familial Peutz-Jeghers syndrome (PJS) patients and analyze their clinical manifestations. Eleven PJS families were collected and genomic DNA of peripheral blood was extracted. Typically mucosal pigmentation and hamartomatous polyps were present in all 11 probands. Mutation screening of the probands were carried out by PCR and direct sequencing. Two hundred and fifty healthy adults were enrolled as normal controls, for whom genomic DNA of peripheral blood was also extracted. PCR-denaturing high performance liquid chromatography was carried out to verify the mutation identified in the patients. Nine germline mutations were identified in eight PJS patients, which included 7 point mutations, 1 deletion and 1 insertion. Among these, 4 were considered to be pathogenic, of which 2 were de novel, 4 were considered to be polymorphism, and 1 was uncertain. LKB1 gene mutations with pathogenic effect are a common cause of familial PJS in Chinese patients. Most mutations are point mutations.
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 04/2012; 29(2):121-5. DOI:10.3760/cma.j.issn.1003-9406.2012.02.001