Glucocorticoids and liver diseases / 中华肝脏病杂志

Glucocorticoids is a type of steroid hormone secreted from zona fasciculata of adrenal cortex.As an immune and inflammatory inhibitor, glucocorticoids has been used to treat many kinds of diseases.T cell response plays a crucial role in the pathogenesis of liver diseases. However, the role of glucocorticoids in the mechanism and treatment of liver disease in current clinical practice is controversial. This paper summarizes the progress of glucocorticoid use for the treatment of liver diseases in recent years. References will be provided for how to grasp the indications,application timing and proper dosage of glucocorticoids in liver diseases.

Serological and molecular analysis of a case with para-Bombay phenotype caused by a h(nt328G to A) mutation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the serological characteristics and molecular basis for an individual with para-Bombay phenotype.</p><p><b>METHODS</b>Blood type of the proband was determined with routine serological methods. Exons 6 and 7 of the ABO gene and coding regions of the FUT1 and FUT2 genes were amplified by PCR and sequenced.</p><p><b>RESULTS</b>The para-Bombay phenotype was confirmed to be of Ah-secretion type. The genotype of the individual was determined as A102/O01. Position 328 of the FUT1 gene was mutated from A to G, resulting in replacement of Alanine (Ala) at position 110 by Threonine (Thr).</p><p><b>CONCLUSION</b>The G to A mutation of nt328 of the FUT1 gene probably underlies the para-Bombay phenotype in this individual.</p>

Serological and molecular study of three cases with a rare Bx02 blood group / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the genotypes of three blood samples suspected as B subtype through DNA sequencing.</p><p><b>METHODS</b>The samples were first genotyped with PCR-SSP. Exons 6 and 7 of the ABO genes were subjected to PCR, direct sequencing, and cloned sequencing to determine the genotypes.</p><p><b>RESULTS</b>Serological results of the three samples were similar, with red cells being weakly agglutinatable by anti-B and serum containing anti-B. The samples were preliminarily genotyped as B/O1. Sequencing analysis showed that all three samples contained an O allele and a 905A>G mutation of the B gene, which was previously defined as Bx02.</p><p><b>CONCLUSION</b>Through sequencing analysis, the three samples typed as B subtype with serological testing were identified as Bx phenotype. The genotype of samples 1 and 2 was Bx02/O101, and that of sample 3 was Bx02/O102.</p>

Advances in research and development of new drugs for antiviral therapy for chronic hepatitis B / 临床肝胆病杂志

Chronic hepatitis B virus (HBV) infection is one of the major disease burdens worldwide. At present, the antiviral therapy for hepatitis B includes interferons and nucleos(t)ide analogues. Current therapeutic regimens based on these drugs cannot significantly increase the proportion of patients with functional cure. With a better understanding of HBV replication cycle and specific virus-host cell interactions, this article summarizes and reviews the advances in the research and development of new drugs for HBV with a focus on different action targets during the above processes.

Association of R405Q polymorphism of GLI1 gene with tetralogy of fallot / 中国综合临床

ObjectiveTo investigate the association between R405Q polymorphism of GLI1 gene and tetralogy of fallot(TOF).Methods In the case-control study,the R405Q polymorphism of GLI1 gene in 112 children with TOF and 200 healthy controls were detected with polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP).The distribution of genotype and allele frequency at R405Q polymorphism site were analyzed and to investigate its relationship with the risk of TOF.ResultsThe distribution of genotype frequency at R405Q polymorphism site was not different between TOF group and the healthy control group(x2 =5.317 ,P = 0.07) .However, the distribution of allele frequency at R405Q polymorphism site was significantly different between TOF group and the healthy control group (x2 = 6.790, P = 0.009) , and the relative risk for TOF in A allele carriers was higher than that in G allele carriers (OR = 1.561,95％ CI 1.116 ～ 2.185) Conclusion The R405Q polymorphism of GLI1 gene is associated with TOF and people with A allele have higher risk with TOF.GLI1 gene might be the genetic susceptibility gene of TOF.