ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with neurofibromatosis type I (NF1).@*METHODS@#Target capture high-throughput sequencing and Sanger sequencing were carried out to detect the pathological variant in a NF1 patient and his parents.@*RESULTS@#The proband and his similarly affected father have both harbored a novel nonsense variant of c.2511G>A (p.trp837x) in the NF1 gene. The same variant was not found in his mother and 200 healthy controls.@*CONCLUSION@#The heterozygous nonsense variant of c.2511G>A (p.trp837x) of the NF1 gene probably underlay the pathogenesis of NF1 in this pedigree.
Subject(s)
Humans , China , Heterozygote , Mutation , Neurofibromatosis 1/genetics , PedigreeABSTRACT
Objective To investigate the incidence of adverse pregnancy outcomes among women with syphilis in Zhejiang province during 2013-2014,and to explore the influence of anti?syphilis treatment on pregnancy outcomes. Methods A retrospective study was carried out according to the Information Management System for preventing mother?to?child transmission(PMTCT)of syphilis in Zhejiang province during 2013-2014. The incidence of adverse pregnancy outcomes was compared between women with syphilis and general women without syphilis, between treated and untreated women with syphilis, as well as between women with syphilis receiving and not receiving standard anti?syphilis treatment. The effects of anti?syphilis treatment and standard anti?syphilis treatment on pregnancy outcomes were analyzed. Results Data were collected from 3 985 women with syphilis and their children. Of these women, 12 had a stillbirth, and 3 973 a live birth. Totally, 3 210(80.55%)women received anti?syphilis treatment, 967(30.12%, 967/3 210) women received substandard treatment, and 775(19.45%)did not receive anti?syphilis treatment. Of the 3 985 fetuses or neonates born to women with syphilis, 45(1.13%)had abnormal clinical symptoms/signs. The incidence rates of low birth weight and early neonatal death were 7.00%(279/3 985) and 1.13%(45/3 985) respectively in fetuses or neonates born to women with syphilis, both significantly higher than those in fetuses or neonates born to general women without syphilis (3.18%[26 092/819494] and 0.13%[1 029/819 494], respectively, both P < 0.01). Among 775 untreated women with syphilis, the incidence rates of premature birth, low birth weight, early neonatal death, congenital syphilis and abnormal neonatal symptoms/signs were 15.61%(121/775), 10.84%(84/775), 2.45%(19/775), 3.48%(27/775)and 2.84%(22/775)respectively, all significantly higher than those in 3 210 women receiving anti?syphilis therapy (8.26%, 6.07%, 0.81%, 0.81% and 1.03%,respectively, all P < 0.01). Besides, the 967 women receiving substandard anti?syphilis treatment showed higher incidence rates of premature birth, low birth weight, early neonatal death, congenital syphilis and abnormal neonatal symptoms/signs than the 2 243 women receiving standard treatment (10.44%vs. 7.31%, 8.17%vs. 5.17%, 1.55%vs. 0.49%, 1.65%vs. 0.45%, 1.96%vs. 0.62%, respectively, all P<0.01). Conclusions The incidence of adverse pregnancy outcomes is high among women with syphilis in Zhejiang province during 2013-2014. Untreated and inadequately treated maternal syphilis is strongly associated with adverse pregnancy outcomes.
ABSTRACT
Objective To explore the expression of cyclooxygenase-2 (COX-2) in different epidermal tumors and its significance. Method The expression of COX-2 was detected by immunohistochemical staining of skin specimens from 10 cases of basal cell carcinoma (BCC), 8 squamous cell carcinoma (SCC), 8 Bowen′s disease (BD), 12 seborrheic keratosis (SK) and 10 normal volunteers. Results Compared with normal epidermal cells, COX-2 expression was significantly increased in BCC, SCC and BD cells. Especially, COX-2 expression in SCC was the most intensive. COX-2 expression in SK cells was similar to that of normal epidermal cells. Conclusion The up-regulation of COX-2 expression may play a potential role in the pathogenesis of epidermal tumors.
ABSTRACT
Objective To investigate the role of Fas antigen,Fas ligand(FasL)and soluble Fas(sFas)in the pathogenesis of vitiligo.Methods The expression of Fas and FasL on peripheral blood lym-phocyte(PBLC)was detected by flow cytometry.Serum sFas was quantitated using a dual antibody sandwich enzyme-linked immunosorbant assay(ELISA).Results The expression of Fas and FasL was significantly de-creased in patients with vitiligo vulgaris(43.45%and58.40%)than those in normal controls(58.30%and64.65%)(P