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Objective: To analyze the gene variation of a genetic coagulation factor Ⅴ (FⅤ) deficiency pedigree and explore the molecular pathogenesis. Methods: The proband was a 32 years old female. The patient was prone to nose bleeding since childhood which was usually self-healed. On March 10, 2021, the proband went to the First Affiliated Hospital of Air Force Medical University for treatment of knee hematoma caused by a fall. None of the family members reported any history of bleeding. The prothrombin time (PT), activated partial thromboplastin time (APTT) and FⅤ activity (FⅤ: C) were detected by clotting method and the FⅤ antigen (FⅤ: Ag) was tested with enzyme-linked immunosorbent assay (ELISA). All exons and flanks of F5 gene were determined by Sanger sequencing. Clustalx-2.1-win, PolyPhen-2 and Swiss-PDBViewer software were used to analyze the conservatism of missense variation sites, whether the variations were harmful and their influences on protein structure and function. MutationTaster and NetGene2 software were used to analyze whether the splice site variation was harmful and its effect on the splice site. Results: The PT and APTT of the proband prolonged to 24.0 s and 69.8 s, respectively. The FⅤ: C and FⅤ: Ag decreased to 6% and 9%, respectively. There were compound heterozygous variations in F5 gene, which included c.911G>A heterozygous missense variation in exon 6 leading to p.Gly276Glu variation and c.5208+1G>A heterozygous missense variation in intron 15. The father and daughter had the p.Gly276Glu heterozygous variation. Her mother and son had the c.5208+1G>A heterozygous variation. Software analysis results of p.Gly276Glu heterozygous variation showed that Gly276 was conserved among homologous species, the variation was harmful, and it could affect the local structure and function of the protein. The c.5208+1G>A heterozygous variation was deleterious and resulted in the disappearance of the splice site, thereby affecting the protein function. Conclusion: The p.Gly276Glu and c.5208+1G>A compound heterozygous variants are deleterious variants associated with the patient's disease and may be the molecular pathogenesis of inherited FⅤ deficiency in this family.

Objective: To analyze the base situation and influential factors of late diagnosis among newly identified HIV/AIDS cases in Anhui Province from 2011 to 2015. Methods: Database information of the newly identified HIV/AIDS cases in Anhui Province from 2011 to 2015 were downloaded from the National HIV/AIDS Comprehensive Information System of China's disease prevention and control information system. To analyze the data including basic information, sample source, route of HIV transmission, population mobility, venereal disease, death and first CD4 count; and the number of 7 073 cases were classified according to late diagnosis and non-late diagnosis criteria. The Chi-square test and logistic regression analysis were used to analyze the influential factors of HIV late diagnosis. Results: A total of 7 073 newly identified HIV/AIDS cases were analyzed, and the mean age was (38.5±15.0) years. The proportion of late diagnosis in all counted cases was 41.7% (2 949/7 073); from 2011 to 2015, the proportions of late diagnosis were 59.7% (485/812), 46.5% (531/1 141), 42.7% (587/1 376), 36.1% (609/1 686), and 35.8% (737/2 058), respectively. Compared with the 0 to 19 years group, the 40 to 59 years group and over 60 years old group have higher risk of late diagnosis ( OR= 2.68, 95 %CI: 1.94-3.71; OR= 2.18, 95 %CI: 1.53-3.10, respectively). Compared with the high education group, the illiterate and primary school education group have higher risk of late diagnosis ( OR= 1.74, 95 %CI: 1.36-2.22; OR= 1.64, 95 %CI: 1.34-2.01, respectively). Compared with other sample sources, medical institutions have higher risk of late diagnosis ( OR= 2.64, 95 %CI: 2.28-3.05). Compared with migrant population, the resident population have higher risk of late diagnosis ( OR= 1.80, 95 %CI: 1.53-2.11). Conclusion: The proportion of late diagnosis among newly identified HIV/AIDS cases in Anhui province was relatively high from 2011 to 2015. The main risk factors of late diagnosis included cases reported by medical institutions, resident population, over 40 years old age group and low education level.

Objective: To evaluate vitamin D status in middle-aged subjects in Beijing and explore the correlation between serum 25-hydroxyvitamin D[25(OH)D] levels and dyslipidemia., Methods: A total of 448 individuals over 40 years old were enrolled in the cross-sectional survey. The general information, blood biochemical and lipid profiles and serum 25(OH)D levels were collected. The subjects were either divided into two groups (the dyslipidemia group and the non-dyslipidemia group) based on the lipid levels, or four groups according to quartiles of 25(OH)D levels. The association between 25(OH)D levels and dyslipidemia risk was analyzed by a logistic regression analysis., Results: A total of 234 cases were in dyslipidemia group, which accounted for 52.23% of the subjects. The serum 25(OH)D levels were significantly lower in the dyslipidemia group than in the non-dyslipidemia group both in men and in women (all P<0.05). The median serum 25(OH)D level in the total subjects was 15.7 (12.2, 20.1)μg/L with 91.1% subjects of serum 25(OH)D level<30 μg/L. The proportion of subjects with dyslipidemia (high TC, high TG, high LDL-C, or low HDL-C) increased with the decrease of 25(OH)D level quartiles (P<0.05). After adjustment of confounding factors, the logistic regression analysis showed that subjects in the lowest 25(OH) D quartile group had 143% higher risks for dyslipidemia than those in the highest quartile group., Conclusion: These findings indicate that 25(OH)D insufficiency is highly prevalent among middle-aged individuals and it may be associated with the risk of dyslipidemia.

Objective: To investigate the relationship between sex hormones and metabolic syndrome (MS), as well as its components in elderly men., Methods: 1 505 elderly men (≥60 years old, mean age 75.4±9.7 years old) who participated in a routine health screening examination in PLA general hospital from May to June in 2012 were enrolled in this cross-sectional study. Serum lipids, glucose and sex hormones were measured along with body height, weight and blood pressure. Free testosterone (FT) and bioavailable testosterone (BT) were calculated. The correlation of serum sex hormones with the presence of MS and its components were analyzed., Results: The prevalence of MS was 21.7% (326/1 505) in this study. Elderly men with MS had lower levels of sex hormone-binding globulin (SHBG), total testosterone (TT), FT and BT than those without MS. The levels of SHBG, TT, FT and BT were significantly lower in the overweight/obesity group, hyperglycemia group and dyslipidemia group than those in the respective control groups (P<0.05). Logistic regression analysis showed that the SHBG level was an independent risk factor for MS in elderly men(OR=0.977, 95%CI: 0.964-0.989, P<0.001), while the levels of TT, FT and BT were not associated with MS. The prevalence of MS gradually increased with decreasing of SHBG values (P<0.001). When comparing subjects in the lowest and highest quartile of SHBG, the former group demonstrated a 2.13-fold increase in the odds ratio for MS after adjusting for age, smoking, drinking and other sex hormone indices., Conclusion: In elderly men, lower SHBG level, not TT, FT or BT may be an independent predictor for the prevalence of MS, in which the mechanism requires further studies.