1.The Effects of Low Molecular Weight Heparin on Serum Level of PCⅢ and Type IV Collage and TGF-?_1
Jixian YU ; Xiaojie BAO ; Gongying CHEN ; Jingsong HUAN ; Xiongying ZHU ; Xin LUO
Journal of Medical Research 2006;0(11):-
Objective To study effects of low molecular weight heparin on liver fibrosis and the serum levels of TGF-?_1 in patients with chronic hepatitis B virus.Methods 45 patients with chronic hepatitis B virus were randomized into control group(the routine strategy)and trial group(the routine strategy + low molecular weight heparin).The period of treatment is 3 weeks.Serum hepatic fibrosis indices before and after heparin treatment were examined by RIA,the levels of serum TGF-?_1 before and after heparin treatment were examined by ELISA.Results Hepatic functions became significantly better in trial groups,serum PⅢP and type IV collage levels and the levels of serum TGF-?_1 in trial group decreased significantly after treatment.Conclusions The mechanism of anti-fibrosis action of LMWH may inhibited production of TGF-?_1 in patients with HBV.
2.Genetic analysis of two families with Short-rib thoracic dysplasia type 3.
Xin GUAN ; Huan MI ; Shan LI ; Yixuan CAO ; Jingsong GAO ; Xiaohui ZHU ; Xiuli ZHAO
Chinese Journal of Medical Genetics 2023;40(11):1350-1355
OBJECTIVE:
To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD).
METHODS:
With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer.
RESULTS:
Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers.
CONCLUSION
The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.
Humans
;
Fetus
;
Chloroform
;
Computational Biology
;
Ethnicity
;
Ribs