1.Physical traits of the body of Chishui Miao ethnicity in Guizhou
Xiaodan YU ; Lijun TANG ; Fenghua LI ; Guichuan JIANG ; Kaiqin CHEN ; Shirong WU
Acta Anatomica Sinica 2014;(5):719-723
Objective To accumulate data for the physical anthropology research of Miao ethnicity adults , and find out the kinship and difference between this group and the other 10 ethnicities.Methods Viviperception and measurement were used to study the caudomedial part traits in 299 Miao ethnicity adults (146 males and 153 females ) who lived in Chishui city in Guizhou , and statistical software SPSS18.0 was used to process data .Results Apart from length of middle finger , the height of medial malleolus subpoint , and the rest 19 indices between male and female had significant difference or great significant difference (0.01
2.Expression of B7-H3 in diffuse large B-cell lymphoma and its prognostic significance
Shibing CHEN ; Yue WANG ; Meiying FAN ; Zheng WANG ; Bo WANG ; Kaiqin JIANG ; Xin LYU
Journal of Leukemia & Lymphoma 2022;31(3):156-160
Objective:To investigate the expression of B7-H3 in diffuse large B-cell lymphoma (DLBCL) and its prognostic significance.Methods:The paraffin-embedded tumor tissues of 103 patients with newly diagnosed DLBCL in Linyi Central Hospital from May 2013 to May 2019 were detected by using immunohistochemistry. The association of the expression of B7-H3 protein with the clinicopathological features, progression-free survival (PFS) and overall survival (OS) of DLBCL patients was analyzed. Cox proportional hazards model was used to analyze the factors affecting PFS and OS.Results:The positive rate of B7-H3 protein in patients with DLBCL was 68.0% (70/103). There were no statistically significant differences in the positive rate of B7-H3 protein among patients with different gender, age, clinical staging, international prognostic index (IPI) score, treatment effect, B symptoms, pathological type and other clinicopathological characteristics (all P > 0.05). The 5-year PFS and 5-year OS rates were 24% and 32% in all patients, the 5-year PFS rates were 47% and 14% in B7-H3 negative and B7-H3 positive patients, respectively ( P < 0.01); and 5-year OS rates were 50% and 24% in B7-H3 negative and B7-H3 positive patients, respectively ( P < 0.001). Multi-factor Cox regression analysis showed that B7-H3 positive was an adverse affecting factor of PFS ( HR = 2.685, 95% CI 1.503 - 4.789, P = 0.001) and OS ( HR = 2.262, 95% CI 1.248 - 4.098, P = 0.007). Conclusions:The moderate and high expression of B7-H3 may be related to the poor prognosis of DLBCL patients.
3.Analysis of ocular clinical features and gene mutations of Waardenburg syndrome
Qin CHEN ; Kaiqin SHE ; Shanming JIANG ; Fang LU
Chinese Journal of Ocular Fundus Diseases 2021;37(12):954-959
Objective:To deeply explore the clinical features and gene mutations of Waardenburg syndrome (WS) by tested of the eyes and genes of three patients.Methods:A Case series study. From 2019 to 2021, 3 children with WS who were diagnosed at Department of Ophthalmology, West China Hospital of Sichuan University were included in the study. Among them, there were 2 males and 1 female; the ages were 3, 4, and 12 months, respectively. All children underwent external eye, anterior segment, fundus and fluorescein fundus angiography, the clinical features of the eyes were observed. The peripheral venous blood of 3 children was collected, and the whole genome DNA was extracted for whole exome sequencing to analyze the gene mutation sites.Results:All children had different degrees of iris heterochromia and fundus pigment abnormalities, and were accompanied by sensorineural hearing impairment. Case 1 had dystopia canthorum; case 2 had macular fovea hypoplasia. The sequencing results of case 1 showed that there were large fragments of heterozygous deletion in exons 2-8 of the Paired box 3 ( PAX3) gene, who was diagnosed as WS Ⅰ type. The sequencing results of of case 2 showed heterozygous mutation in exon 9 of Microphthalmia-associated transcription factor ( MITF) gene (c.1066 C >T), combined with heterozygous mutation in exon 1 of HPS6 gene (c.1417 G> T), who was diagnosed as WS Ⅱ type. The sequencing result of case 3 showed that the exon 3 of SOX10 gene had loss of heterozygosity (c.497_500 delAAGA), who was diagnosed as WS Ⅳ type. Both PAX3 and SOX10 gene mutations were newly discovered mutations. Conclusions:The ocular clinical features of Waardenburg syndrome include hypopigmentation of the iris and choroid, and dystopia canthorum, etc. Early screening of the eye and hearing will help to better diagnose the disease. The large fragments of heterozygous deletion in exons 2-8 of the PAX3 gene, the heterozygous mutation in exon 9 of MITF gene (c.1066 C> T), and the loss of heterozygosity in exon 3 of SOX10 gene are pathogenic genetic variations of 3 children.