Peutz-Jeghers syndrome ( PJS ) is a rare autosomal dominant inherited disease characterized by mucocutaneous pigmentation and multiple gastrointestinal polyposis. Recent studies suggested that mutation in STK11 gene on chromosome 19p13. 3 was considered as the major cause of PJS. In this paper,we summarized the clinical features, pathogenesis,diagnosis and treatment of PJS through literature review.

Objective The aim of this study was to investigate how different concentrations of dextran sulfate sodi-um ( DSS) influence the establishment of mouse model of inflammatory bowel disease ( IBD) and the effect of DSS on the expression of colitis-associated immune factors.Methods The DSS solution in different concentrations (3%, 5%, 7%) were given to male C57BL/6J mice to generate mouse inflammatory bowel disease model.The IBD mice were observed by defecation characteristics, body weight, and survival time.The animals were sacrificed at 6 days after the start of DSS drinking.The general appearance of colons was observed and scored.Moreover, the pathological changes of the colon were examined and analyzed by routine histology.The expression of immune factors in the spleen was detected by real-time PCR.Results The mice in the 3%, 5%, 7% DSS groups developed murine colitis.In addition, the incidence of IBD and mouse mortality rate was directly proportional to the increase of DSS concentration.Furthermore, the higher concentra-tion of DSS induced the expression of proinflammatory factors including TNF-α, IFN-γand IL-17A, but cause a decrease of anti-inflammatory factors such as IL-4, IL-10 and Treg-related transcription factor Foxp3.Conclusions Our data suggest that giving 5%DSS solution to C57BL/6J mouse is appropriate to efficiently establish a murine IBD model.This laid an important foundation for further studies of the pathogenesis of IBD, biological characteristics, and intervention factors.

OBJECTIVETo correlate the clinical characteristics with mutations of the STK11 and FHIT genes in 16 patients with Peutz-Jeghers syndrome (PJS).

METHODSPotential mutations in the coding regions and flanking sequences of the STK11 and FHIT genes were detected with PCR and Sanger sequencing.

RESULTSOf the 16 patients with PJS, 8 had novel mutations in the coding region of the STK11 gene, 1 had a previously reported mutation. 1 carried a mutation in the exon 10 of the FHIT gene, which is a non-coding region. None of the mutations was detected in the immediate family members. None of the patients with STK11 gene mutations had mutation in the FHIT gene. The mutation rate of the STK11 gene among patients with PJS was 56.25%.

CONCLUSIONMutations of the STK11 gene are the major cause of PJS. Few such patients had mutations of the FHIT gene. Mutations of the FHIT gene may play a part in the pathogenesis of PJS.

Acid Anhydride Hydrolases ; genetics ; Adolescent ; Adult ; Base Sequence ; Child ; DNA Mutational Analysis ; Exons ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Neoplasm Proteins ; genetics ; Pedigree ; Peutz-Jeghers Syndrome ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Young Adult

Objective:To analyze the effect of the over-the-scope-clip system (OTSC) system in the treatment of iatrogenic gastrointestinal perforation.Methods:Retrospective selection of clinical data from 21 patients with gastrointestinal perforation during endoscopic examination and treatment from May 2016 to December 2023 in the Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University. By analyzing the patient's basic information, perforation cause, perforation diameter, length of hospital stay, post-treatment outcome, complications, and treatment success rate, the effectiveness of using the OTSC system to treat iatrogenic gastrointestinal perforation is comprehensively evaluated, and the influencing factors that may be related to the failure of OTSC system closure are analyzed. Independent sample t-test is used for inter group comparison of metric data that conforms to normal distribution. Fisher's exact probability test was used for inter group comparison of count data.Results:There were 21 cases of acute iatrogenic gastrointestinal perforation, including 12 males and 9 females, aged (61.95±15.47) years, 4 cases of duodenal perforation, 10 cases of gastric perforation, and 7 cases of colon perforation. The diameter of the perforation was (1.18±0.56)cm, and the perforation sealing time was (8.29±4.42) min. Among the 21 patients, 5 cases of occlusion failed, of which 2 cases of sigmoid colon perforation were transferred to surgery in time due to OTSC insufficiency, 3 cases were perforated in duodenal colon and colonic splenic area, 3 cases of delayed abdominal infection after OTSC system occlusion, 16 cases of OTSC system closure and perforation without complications such as delayed perforation, and the average length of hospital stay of patients in the OTSC system wound closure group was (11.56±6.53) d, which was shorter than that in the OTSC system closure failure group ((38.00±21.34) d), The proportion of passive perforation in the failure group (100%, 5/5) > the success group (31%, 5/16).The occlusion success rate of passive perforation in the OTSC system (50%, 5/10) < active perforation (100%, 11/11), the diameter of perforation of the failure group ((1.72±0.80)cm) was significantly > that of the successful group ((1.06±0.49)cm), the diameter of perforation ≥2.0 cm in the failure group (80.0%, 4/5) was significantly > that of the successful group (12.5%, 2/16), the proportion of duodeno-colonic perforation in the failure group (100.0%, 5/5) > the success group (37.5%, 6/16), the difference was statistically significant ( P values were 0.049, 0.012, 0.012, 0.037, 0.011, and 0.035, respectively). Conclusion:The closure of acute iatrogenic gastrointestinal perforation by the OTSC system has significant therapeutic effects and can reduce the probability of surgical conversion due to perforation to a certain extent. It is worth promoting and applying. The diameter of the perforation (≥2 cm), the perforation method (passive perforation), and the perforation site (the difficult part of duodenum-colon operation) may be the relevant influencing factors for the failure of the occlusion of the OTSC system.