OBJECTIVE To characterize the relationship between promoter of FGL2 gene(site-1285T/A)polymorphism and clinical subgroups infected with HBV. METHODS The genotype was analyzed by using method of polymerase chain reaction(PCR),enzyme restriction after PCR amplification,and agarose gel electrophoresis.Statistics were used ?~2 and Logistic regression. RESULTS There were no statistic genotype or allele frequency differences between any two subgroups(except acute hepatitis B and liver cancer). CONCLUSIONS Promoter of fgl2 gene(site1285T/A) polymorphism has no relation with HBV infection.

0.05). Conclusion The polymorphism of G-944C in CⅡTA gene promoter Ⅳ was associated with the susceptivity of chronic HBV infection, but was not associated with severity of diseases. The individuals with chronic HBV infection of CC genotype are of less possibility to develop chronic liver disease than those of other genotypes.

Objective To evaluate the clinical application of mammorgraphy with core needle biopsy in the diagnosis of breast lesions.Methods 36 cases of clinical nonpalpable breast lesions were detected with stereotactic needle core biopsy(SCNB) and 27 cases of ≥2 cm breast masses with direct core biopsy. Results The study showed that breast cancer was 20(31.7%), benign breast lesion 43(68.3%). The diagnostic accuracy, aspiration misplay and false negatigve were 93.6%, 3.2% and 3.2%, respectively. No false positive was found. Conclusion Mammorgaphy with core needle biopsy is a simple, less invasive and accurate localization procedure, very valuable in the diagnosis of nonpalpable lesions that only be visible on mammography.

Objective To conduct the global assessment of methylated DNA status of CpG islands. Methods The modified AIMS (amplification of inter-methylated sites) technology was adopted, which mainly included 3 groups of isoschizomers (methylation-sensitive and methylation-insensitive restricted enzymes). The comparison analysis of methylome among 3 concentrations (6%, 8%, 10%) of polyacrylamide with 8M urea denaturing sequencing gel and the digestion effect among 3 groups of isoschizomers were carried out. The results of personal molecular imager FX system and autoradiography were also compared. Results Genome-wide detection of methylome of CpG islands might be the technical basis for the subsequent analysis. The resolving power and scope bands in 6% polyacrylamide denaturing sequencing gel were superior to those in gels with the other two concentrations. 3 groups of isoschizomers could meet the need of genome-wide detection of methylome of CpG islands. Personal molecular imager FX system and autoradiography could be used together, and they compensated each other. Conclusions The optimized AIMS technology is a kind of high-throughput method to analyze methylome, which is simple, specific, and easy to handle. The 3 groups of isoschizomers can cover most of CpG islands for genome-wide detection and get the ideal results. Only a small quantity of genome DNA is enough to meet the need of clinical detection.

Objective To investigate the survival rate of patients with chronic severe hepatitis B (CSH) after lamivudine treatment. Method A matched retrospective cohort study using data on patients derived from a prospectively collected chronic severe hepatitis B database was conducted. The database included patients who received or did not receive lamivudine treatment from October, 1999 to December, 2003. The match was conducted according with 3 variables: sex, age and duration of disease. The match ratio was 1∶1. Cases were patients who received lamivudine treatment (n=103).Controls were patients who did not receive lamivudine treatment (n=103). All the patients were followed up and their median survival time and survival rate were compared and evaluated. Results The median survival time in lamivudine treatment group and control group were 85 and 35 d respectively. The survival rate for 3 years in treatment group and control group were 42.7% and 23.4% respectively. There was significance difference in survival rate between the 2 groups (P

Objective To explore the conditions for the restoration of competitive dysbacteriosis with antibiotics. Methods The mathematical model of the two competitive floras was analyzed by the Qualitative Theory of Ordinary Differential Equations. Results Three different types of dysbacteriosis and their restoring conditions were obtained. Conclusion Different restoring schemes should be applied for the regulation of different types of dysbacteriosis. Misuse of antibiotics can not result in satisfactory therapeutic effect.

Hepatitis B virus (HBV)-specific T cells in patients with chronic HBV infection are currently acknowledged as exhausted T cells. This article summarizes previous studies which support this hypothesis and then points out several inconsistencies between this hypothesis and clinical observation. Based on recent research findings, it is pointed out that in patients with chronic HBV infection, HBV-specific T cells might be dominated by silenced, early-differentiated progenitor T cells. Also, this article analyzes the possible causes of the silenced status of those T cells.

Acute-on-chronic liver failure (ACLF) is a common critical and severe syndrome in patients with chronic liver diseases in China and other countries in the Asia-Pacific region. In recent years, both the Eastern and Western experts have defined ACLF as a new type of liver disease manifesting as a high 28-day mortality rate (>30%) and extensive systematic inflammatory response. ACLF has become a hot topic in the field of liver diseases. This article reviews the research advances in the definition and etiological spectrum of ACLF and discusses the inspirations of such new knowledge for future research.

Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.

We report a case of type A insulin resistance syndrome. A 16-year-old girl with BMI of 19.1 kg/m 2 presented with primary amenorrhea and hyperglycemia for two years. Baseline HbA 1C was 10.8%, along with severe hyperinsulinemia, increased total testosterone and free androgen index(FAI). Ultrasonography showed polycystic ovaries. Next generation sequencing identified a novel and de novo heterozygous missense mutation of Trp1220Gly in the insulin receptor gene. Short-term intensive insulin pump treatment was initiated, followed by insulin glargine, pioglitazone and acarbose combination regiment. Fasting blood glucose and insulin levels decreased significantly, but post-load hyperglycemia and hyperinsulinemia remained unsatisfactory. HbA 1C dropped to 7.6% at 1-year follow up. Patients with polycystic ovarian syndrome who are adolescent-onset and with lean body type should be taken into account of type A insulin resistance syndrome. Currently, there is no standardized treatment protocol, and therapy should be individualized based on the specific gene mutation of each patient.