Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing / 中华医学遗传学杂志

OBJECTIVE@#To detect potential variant in a male fetus suspected for Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC) syndrome.@*METHODS@#Peripheral blood samples of the fetus and his parents were collected for the extraction of DNA. Whole-exome sequencing was carried out to detect potential variants. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The fetus was found to carry a heterozygous c.673C>T missense variant of the Tp63 gene, which was known to underlie split-hand/split-foot malformation. The same variant was not found in either parents.@*CONCLUSION@#The heterozygous c.673C>T missense variant of the Tp63 gene probably underlies the EEC syndrome in the fetus. Above finding also expanded the phenotypic spectrum for this variant.

Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).@*METHODS@#Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.@*RESULTS@#The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.@*CONCLUSION@#The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.

Primary retroperitoneal liposarcoma surgery in combination of bowel resection, a report of 24 cases / 中华普通外科杂志

Objective:To evaluate primary retroperitoneal liposarcoma surgeries in combination with involved bowel resection .Methods:Clinical data of primary retroperitoneal liposarcoma patients admitted for surgery at Peking University International Hospital from Jan 2015 to July 2019 were retrospectively reviewed.Results:Twenty-four patients undergoing resectional surgeries combining with bowel resection were included for the study, of which 6 cases underwent right hemicolectomy, 8 did left hemicolectomy, 6 did sigmoidectomy, 2 did proctectomy and 8 did small bowel resection. The post operative morbidity was 38%. 2 of 24 had anastomotic fistula. There was no mortality. Final pathology disclosed well differentiated liposarcoma in 13 and dedifferentiated liposarcoma in 11 cases. 18 cases were confirmed with bowel infiltration pathologically. All patients were followed up after the surgery. After a median of 25 months following up, 8 cases developed recurrences and 3 deceased. Two-year overall survival and progression free survival probability were 91% and 71% respectively. Dedifferentiated liposarcoma as a pathological type was found as the only risk factor associated to poor progression free survival ( Z=2.02, P=0.042). Conclusion:Combining resection of primary retroperitoneal liposarcoma with involved bowel was relatively safe, with low morbidity, increasing tumor clearance. Dedifferentiated liposarcoma is associated wth poor prognosis.

Biocompatibility of macrophages with quantum dots / 中国组织工程研究

BACKGROUND: Compared with the traditional organic fluorescent dyes, quantum dots present good biomarker characteristics. Especially, quantum dots for cell labeling and targeted bioimaging present unique optical properties.OBJECTIVE: To investigate the biocompatibility of CdSe/ZnS quantum dots with mononuclear macrophages.METHODS: The macrophages RAW264.7 were inoculated into 96-well plates containing 0, 50, 100 mg/L CdSe/ZnS quantum dots for 1 or 2 hours. Then, the fluorescent signal was detected by flow cytometry. After 0-24 hours of culture,the fluorescence signal intensity of the macrophages cultured with 50 mg/L CdSe/ZnS quantum dots was detected by flow cytometry. After 18 hours of culture, quantitative PCR was used to detect the levels of tumor necrosis factor α and interleukin 1β in macrophages, and macrophage proliferation cell apoptosis were detected by MTT and flow cytometry,respectively.RESULTS AND CONCLUSION: The fluorescence signal intensity was positively correlated with the mass concentration of CdSe/ZnS quantum dots, and the intensity of the fluorescent signal was increased with the labeling time. After labeling using 50 mg/L CdSe/ZnS quantum dots, the fluorescence signal of macrophages increased continuously with time, and reached the peak at 18 hours. Compared with 0 mg/L quantum dot group, 50, 100mg/L quantum dot groups could significantly promote the expression of tumor necrosis factor α and interleukin 1β in macrophages (P < 0.01 or P < 0.05).The level of tumor necrosis factor α in the 100 mg/L quantum dot group was higher than that in the 50 mg/L quantum dot group (P < 0.01). The expression of interleukin-1β showed no difference between 50 and 100 mg/L quantum dot groups.The cell proliferation in the 50 and 100 mg/L CdSe/ZnS quantum dot groups was significantly higher than that in the 0 mg/L quantum dot group (P < 0.05), but there was no difference between the former two groups. In addition, 50 and 100 mg/L CdSe/ZnS quantum dots had no significant effect on apoptosis of macrophages. To conclude, CdSe/ZnS quantum dots could activate macrophages and promote their proliferation and secretion of inflammatory factors, but did not affect their apoptosis.