Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.

Objective:To explore the clinical application value of multiple cytogenetic and molecular genetic techniques in the diagnosing of chromosomal microstructural abnormalities.Methods:The proband was a 30-year-old man. He went to Reproductive Medicine Center of Shenzhen Zhongshan Urology Hospital in July 2021 because of a 7-year history of primary infertility. Chromosome karyotype was analyzed by conventional G-banding technique. One case was found to be suspected of microstructural aberration in X chromosome. The origin and structural characteristics of this X chromosome structural aberration was identified by high-resolution G-banding, copy number variation sequencing (CNV-seq), C-banding and fluorescence in situ hybridization (FISH). The pregnancy outcome of this case was followed up. Results:Conventional G-banding karyotype of peripheral blood lymphocytes was initially diagnosed as 46, Y, ?inv(X)(p22.3p22.2). The final karyotype of proband was interpreted as 46, Y, der(X) t(X; Y)(p22.3; q12) mat by high-resolution G-banding karyotype analysis, CNV-seq, C-banding analysis and FISH detection. His spouse had conceived singleton pregnancy via in vitro fertilization and embryo transfer. Prenatal diagnosis had been performed. Karyotype of amniotic fluid was 46, X, der(X) t(X; Y)(p22.3; q12) pat. No structural malformation was detected prenatally by ultrasound. The neonate was phenotypically normal one month after birth. Conclusion:The combined application of multiple cytogenetic and molecular genetic techniques can provide a reliable technical platform for characterizing the microscopic structural aberrations of chromosomes, and an important genetic basis for exploring the phenotype, prognosis and offspring risk of such patients.

Trifluridine-tipiracil(TAS-102)is an oral chemotherapeutic agent combination comprising a fluoropyrimidine(FTD)and a potent thymidine phosphorylase(TPI)inhibitor.TAS-102 is novel due to its antitumor activity against 5-fluorouracil resistant tumors,demonstrated both by in vitro models and xenografts.TAS-102 is currently approved as a third-line therapeutic strategy for metastatic colorectal and gastric cancer based on phase Ⅲrandomized clinical trial data confirming survival benefits with TAS-102.Preliminary data from recent studies suggest a potential expanding role of TAS-102 in various gastrointestinal(GI)cancers.This article summarizes the clinical applications of TAS-102 in the treatment of GI cancers.Additionally,we discuss the rationale and clinical benefits of combining TAS-102 with other anticancer agents in patients with GI cancers.

Objective:To develop an online interactive cytopathological training program, and to evaluate it for improving the cytopathological diagnostic ability of endoscopists in endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) of pancreas.Methods:A total of 5 500 cytopathological images were collected from 194 patients with pancreatic solid mass who underwent EUS-FNA in Nanjing Drum Tower Hospital from August 2018 to August 2019. The cell type in each cytopathological picture was labeled by senior cellular pathologists, which was used to build a learning and testing platform for online interactive cytopathological training. Five endoscopists without cytopathological background were invited to participate in this training. Sensitivity, specificity, positive predictive value and negative predictive value of endoscopists in differential diagnosis of cancer and non-cancer before and after training were compared to evaluate the effect of the online interactive cytopathological training program on improving the ability of endoscopists in diagnosis of cytopathology.Results:A cytopathological training platform for endoscopists to learn and take online test was successfully built. Before training, sensitivity, specificity, positive predictive value, negative predictive value and accuracy of diagnosis of cancer and non-cancer for endoscopists were 0.55 (95% CI: 0.53-0.58), 0.32 (95% CI: 0.30-0.35), 0.43 (95% CI: 0.41-0.45), 0.44 (95% CI: 0.41-0.47) and 0.43 (95% CI: 0.42-0.45), respectively. After training, the above indicators were 0.96 (95% CI: 0.95-0.97), 0.70 (95% CI: 0.68-0.73), 0.74 (95% CI: 0.72-0.76), 0.95 (95% CI: 0.94-0.96) and 0.81 (95% CI: 0.80-0.83), respectively, which were significantly improved compared with those before ( P<0.001). Conclusion:The online interactive cytopathological training program can improve the understanding and diagnostic ability of endoscopists in pancreatic cytopathology, help to implement rapid on-site evaluation in the process of EUS-FNA, and improve the diagnostic efficiency of EUS-FNA.

Objective To summarize the key points of nursing care to pregnant women with acute cholecystitis and gallstones. Methods The clinical data of twenty three pregnant women with acute cholecystitis and gallstones during August 2007 to January 2012 were reviewed and analyzed retrospectively,including 19 cases for conservative treatment,3 cases for surgical treatment,1 case for abortion.Results All patients were cured and discharged with hospital stay for 7 to 21 days,averaged(12.7±4.7)days. Conclusion For pregnant women with acute cholecystitis and gallstones,efforts should be focused on dynamic monitoring of vital signs and fetal conditions,psychological care and diet care in order to ensure the safety of the mathers and infants.

Objective To construct pEGFP-C1-HSP27 recombinant eukaryotic expression vector and establish human pancreatic cancer SW1990 cell line stably expressing HSP27.Methods RT-PCR was applied to amplify human HSP27 cDNA from human pancreatic cancer SW1990 cells with a pair of specific primers carrying a restriction enzyme site BamH Ⅰ or Hind Ⅲ on each 5' end.HSP27 cDNA was inserted into pEGFP-C1 vector and then identified by restriction enzyme digestion and sequencing.Successful constructed pEGFP-C1-HSP27 or empty vector was transfected into SW1990 cells by lipofectamine 2000,respectively.The location of HSP72 was determined by fluoroscopy,RT-PCR and Western blot was used to detect the expression of HSP27 in transfected cell.Results The DNA sequence of pEGFP-C1-HSP27 recombinant plasmid was completely correct,and it was successfully transfected into SW1990 cell lines and stably transfected SW1990 cell lines were obtained,which were confirmed by restriction enzyme and sequencing.The expression of EGFP was distributed in cytoplasm,the HSP27mRNA expression was significantly increased (1.458 ± 0.160vs0.897 ±0.051,P ＜0.05).In addition,it was showed that EGFP-HSP27 fusion protein was expressed.Conclusions The eukaryotic expression vector pEGFP-C1-HSP27 was constructed successfully and stably transfected SW1990 cell line expressing HSP27 was obtained.