Objective To investigate the efficacy of different treatments for breast ductal carcinoma in situ. Methods From January 2010 to March 2015,a total of seventy-eight patients with intraductal carcinoma in Shanghai First People's Hospital Baoshan Branch were enrolled in the study. According to the different treatment methods,the patients were divided into the experimental group (33 cases) and control group (45 cases). The experimental group was given breast conserving surgery plus adjuvant radiotherapy,while the control group was treated with modified radical operation. The operative time, intraoperative blood loss, drainage volume and hospital stay were compared between the two groups. The survival and adverse events of the two groups were analyzed. Results The hospitalization time (( 8. 13 ± 3. 43) d), operation time (( 108. 56 ± 22. 27) min), intraoperative blood loss ((78. 72±30. 74) ml) and drainage ((259. 68±35. 95) ml) in observation group were significantly shorter than those in the control group ((15. 56±2. 73)d,(148. 62±23. 85) min,(169. 28±26. 33) ml,(553. 37 ± 45. 64) ml) The difference between the two groups was statistically significant ( t＝12. 160, 9. 378,17. 304,38. 265,P＜0. 05). Log-rank test showed that the good prognosis rate of two groups in 24 months was 90. 32% and 88. 64% respectively,the difference was not statistically significant ( x 2＝1. 246,P＞0. 05) . Conclusion Breast conserving surgery plus adjuvant radiotherapy is the first choice for the treatment of breast ductal carcinoma in situ.

Objective:To explore the clinical characteristics and genetic etiology for a Chinese pedigree affected with Dyschromatosis symmetrica hereditaria (DSH) in conjunct with developmental delay.Methods:A child who had presented at the First Affiliated Hospital of Zhengzhou University on May 28 2021 for abnormal skin pigmentation of the extremities and growth retardation for over 2 years was selected as the study subject. Clinical data of the child and his pedigree (11 individuals from three generations) was collected. The child was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing.Results:The child, a two-year-and-seven-month-old male, had hyper- and hypopigmentation on his hands, feet and face, in addition with delayed development. All members of his pedigree had typical presentation of DSH. A heterozygous c. 2657G>A variant was found in exon 8 of the ADAR gene in the child, his mother, and elder sister. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP1+ PP3). Conclusion:The c. 2657G>A variant of the ADAR gene probably underlay the DSH in this pedigree.