A novel mutation of the STK11 gene in a family with Peutz-Jeghers syndrome / 局解手术学杂志

Objective To detect the mutation of STK11 in a family with Peutz-Jeghers syndrome.Methods Genomic DNA was extracted from peripheral blood and harmatoma polypus of all the patients,and 9 exons and noncoding regions of STK11 were amplified by PCR.Cycle sequencing was used to analysis the DNA sequence,and western blot was used to detected the mutational STK11 protein in the harmatoma polypus.Results The 21th codon CAG in exon 5 of STK11 gene transformed to TAG in all the patients,which translated into a truncated STK11 protein.Conclusion This novel mutation is the pathogeny of PJS in this family,which could be an indicator for the diagnosis of PJS in this family.And it may lead to a higher risk of cancer in patients.

Feasibility of endoscopic resection-closure for non-intraluminal gastric stromal tumors originating from the muscularis propria layer / 中华消化内镜杂志

Objective To evaluate the feasibility of endoscopic resection and closure for non-intraluminal gastric stromal tumors originating from the muscularis propria layer.Methods Included in the study were 46 patients with gastric submucosal lesions originating from the muscularis propria layer, detected by gastroscopy and endoscopic ultrasonography.The lesions were removed by endoscopic resection and closure, which were further diagnosed as stromal tumor by means of pathologic and immunohistochemical examinations.The patients were followed up with endoscopy for evaluation of therapeutic effect and complications.Results All lesions were successfully removed, with serosa layer remained in 2 cases and full layer resection in other 44, which were all closed by endoscopic clips.Combination managements of acid suppression,gastrointestinal decompression and intravenous antibiotics were applied in all patients.Pathology reports confirmed complete resection of all lesions, with 0.5 to 3.7 cm in diameter.Normal diet was restored in 44 patients 48 ～ 72 h after the procedure.Pneumoperitoneum and focal peritonitis occurred in 2 cases, one of which underwent rupture and was clamped again.The 2 patients recovered after 10-12 days of conservative treatments.Follow-up endoscopy revealed white ulcerous scar in all cases.Conclusion Endoscopic resection and closure therapy is a safe, economic and less invasive treatment for non-intraluminal gastric stromal tumors originating from the muscularis propria layer.

Dimethicone powder in bowel preparation before capsule endoscopy / 中华消化内镜杂志

Objective To evaluate the effect of the dimethicone powder in bowel preparation before capsule endoscopy (CE) and to observe its possible adverse effects. Methods A total of 60 patients receiv-ing CE were prospectively randomized into 2 groups according to bowel preparation method. In dimethicone powder group, patients were arranged to take dimethicone powder 30 rain before the examination on basis of macrogol electrolytes powder and in control group, patients had macrogol electrolytes powder only. Images of small intestine were equally divided into segments A, B and C according to intestinal transit time, and re-viewed by 2 experienced physicians independently. Intraluminal gas bubbles were graded and any possible adverse effects were monitored. Results Interobserver agreement was excellent (P < 0.05). In segments A and C, images from dimethicone powder group were less interfered by gas bubble than those from control group (P < 0. 05), but in segment B there was no difference between 2 groups (P > O. 05). No adverse effects were observed. Conclusion The dimethicone powder administration before capsule endoscopy im-proves the visualization of the intestinal mucosa.