1.Benign familial chronic pemphigus in a family: a clinical survey and mutation analysis of ATP2C1 gene
Xueqi ZHANG ; Xiaohong SHAO ; Jianfeng CAI ; Jingjing LIU ; Zhiming LI ; Xiaohua LIN ; Bingxu LI ; Yunsheng XU
Chinese Journal of Dermatology 2013;(1):47-49
Objective To report a Chinese pedigree with benign familial chronic pemphigus (BFCP),and to screen mutations of ATP2C 1 gene in this family.Methods A 39-year-old male patient with BFCP andhis family members underwent a clinical investigation.Blood samples were collected from all the members in this family and from 50 unrelated healthy controls.Genomic DNA was extracted from the blood samples,and PCR was performed to amplify all the 28 exons and flanking sequences of the ATP2C1 gene followed by DNA direct sequencing.The resulted DNA sequences were compared with the reported sequences of APT2C1 gene in Genbank (Number:NM_014382.2 and NC_000003.9).Results There were 24 family members in the four-generation pedigree,with 8 members affected by BFCP.A single-nucleotide substitution,c(1696C→T),in exon 17 of the ATP2C1 gene was identified in all of the members with BFCP,but not in unaffected third-or second-generation members or unrelated healthy controls.This substitution was also found in 1 out of 4 family members of fourth-generation.Conclusions The nonsense mutation c(1696C→T) in the ATP2C1 gene,is likely to be responsible for BFCP in this Chinese four-generation pedigree.The underage family member of fourth-generation who carried the mutation c(1696C→T) but had no clinical symptoms of BFCP,should be closely followed.
2.Significance of neoadjuvant chemotherapy in the treatment of limited-disease small cell lung cancer
SHAO Weipeng ; HUANG Jingjing ; FENG Hongxiang ; SHAO Xueqi ; WANG Xiaowei ; ZHANG Zhenrong ; LIU Deruo
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2019;26(5):419-424
Objective To investigate the significance of neoadjuvant chemotherapy in the treatment of limited-disease small cell lung cancer (LD-SCLC). Methods We retrospectively analyzed the clinical data of 55 LD-SCLC patients who underwent surgery in the Department of Thoracic Surgery, China-Japan Friendship Hospital from May 2007 to August 2016. There were 42 males and 13 females with a mean age of 57 years. All patients underwent clinical staging before treatment. According to the different treatments, the patients were divided into two groups, a preoperative neoadjuvant chemotherapy group and a direct surgery group. The comparison of long-term survival rates was made between the two groups. Results Among the 55 patients, median survival time was 27 months. The 1-, 3-, 5-year survival rate was 89.1%, 45.0%, 33.8% respectively. Treatment methods and clinical N stage were significantly different in prognosis (P<0. 05). The results of Cox proportional hazards regression model showed that clinical N stage was prognostic factor of LD-SCLC patients (P<0. 05). Conclusion Patients with clinical stage Ⅰ and Ⅱ SCLC are better to receive direct surgery. For patients with clinical stage Ⅲ, it is recommended to reach partial response or complete response with neoadjuvant chemotherapy before surgery. The status of lymph node metastasis is closely related to survival, thus identifying the accurate clinical stage is crucial before treatment.