Objective To explore the association between HLA-A*31, B*40, B*58 and DRB1*16 allele polymorphisms and onset of hemorrhagic fever with renal syndrome (HFRS) in Zunyi Han population. Methods Using group study, HLA-A*31, B*40, B*58 and DRB1*16 genotyping was conducted in 100 HFRS cases and 100 controls among Han population in Zunyi area with polymerase chain reactionsequence specific primer(PCR-SSP), gene frequency (GF) and relative risk (RR) were calculated and compared. Results The results showed that the frequencies of A*3101, B*5801 and DRB1*1602 were increased in patients as compared to the healthy controls ( RR = 13. 825, x2 = 4. 296, P = 0. 038; RR =2.614,x2 =6. 133,P=0.013;RR =8.523,x2 =8. 865,P=0. 003). The frequency of B*4001 in patients with HFRS were significantly lower than that in the healthy controls( RR =0.414,x2 =6.640,P =0. 010).Conclusion These results suggest that HLA-A*3101, B*5801 and DRB1*1602 haplotypes were strongly associated with susceptibility to HFRS disease in Zunyi Han population and allele HLA-B*4001 might be associated with protection against hantaviruses infection.

Objective To study the impact of HIV and hepatitis C virus ( HCV ) infection on peripheral expression of antiviral protein A3G and plasma IFN-αlevels.Methods Untreated patients with chronic hepatitis C(HCV infection group, n=43), AIDS(HIV infection group, CD4 +T<200 cells/μL, n=45) and HIV/HCV co-infection (CD4 +T<200 cells/μL, n=45) were recruited in the study, and 23 healthy subjects were also enrolled as controls.A3G mRNA in peripheral blood mononuclear cells (PBMC) was measured by quantificational real-time PCR, and plasma IFN-αlevel was determined by enzyme linked immunosorbent assay (ELISA).Rank-sum test and Spearman rank correlation analysis were performed. Results A3G mRNA levels in HIV infected group, HIV/HCV co-infected group, HCV infected group and healthy control group were 4.89 (0.59), 4.85 (0.71), 3.89 (1.08) and 3.69 (0.81) lg copies/mL, respectively.A3G mRNA levels in HIV infected group and HIV/HCV co-infected group were much higher than those in healthy control group (Z=-6.306 and -6.280, P<0.01) and HCV infected group (Z=-7.358 and -7.275, P<0.01).Plasma IFN-αlevels in HIV infected group, HIV/HCV co-infected group, HCV infected group and healthy control group were 2.79 (1.25), 2.05 (1.29), 2.32 (1.84) and 2.16 (2.19) pg/mL, respectively.Plasma level of IFN-αin HIV infected group was higher than that in the HIV/HCV co-infected group (Z=-2.332, P<0.05), but no significant difference was observed among other groups (all P>0.05).There was no significant correlation between plasma IFN-αlevel and A3G mRNA expression (rs =0.04, P>0.05), and the levels of A3G mRNA and IFN-αshowed no correlation with HIV RNA and HCV RNA (all P>0.05).Conclusions A3G is highly expressed in PBMCs from HIV infected patients, and it may not be affected by the infection of HCV.A3G mRNA is not closely correlated with IFN-α, and it has not significant influence on HIV RNA and HCV RNA replication.

OBJECTIVE: To explore the genetic basis for a child with unexplained global developmental delay (GDD), seizure, and facial deformity. METHODS: Whole exome sequencing (WES) was carried out for the patient. Candidate variants were verified by Sanger sequencing of the patient and his parents. RESULTS: WES revealed that the patient has carried a previously unreported de novo heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene, Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.4906C>T variant of KMT2A gene was predicted to be pathogenic (PVS1+ PS2+ PM2+PP3). CONCLUSION The heterozygous nonsense c.4906C>T (p.Arg1636Ter) variant of the KMT2A gene probably underlay the disease in the child. Above finding has enriched the spectrum of pathogenic variants of the KMT2A gene.
Abnormalities, Multiple/genetics* ; Child ; Histone-Lysine N-Methyltransferase/genetics* ; Humans ; Intellectual Disability/genetics* ; Male ; Myeloid-Lymphoid Leukemia Protein/genetics* ; Syndrome

Objective To investigate the value of F-actin autoantibodies in the serum of patients with systemic lupus erythematosus (SLE),and to explore the relationships between F-actin autoantibodies and other clinical indicators.Methods ELISA was established to detect serum levels of F-actin autoantibodies in 93 inpatients with SLE from March 2017 to January 2018 (case group,n=93),72 patients with rheumatoid arthritis (RA) (disease control group) and 83 healthy subjects (healthy control group) were included during the same period.The positive rates of F-actin autoantibodies between the case group and the two control group were compared.Clinical data including SLE disease activity index (SLEDAI),immuno-globulin (lg)G,erythrocyte sedimentation rate (ESR),anti-dsDNA,and antinuclear antibody (ANA) of 93 patients with SLE were collected and the correlation analysis between F-actin autoantibodies units was applied respectively.The diagnostic performance of F-actin autoantibodies in SLE was analyzed by using the receiver operating characteristic curve (ROC).T test,Chi-square test and Spearman/Pearson correlation analysis were applied for statistical analysis.Results The serum levels of F-actin autoantibodies in the SLE case group,disease control group,and healthy control group were (18±13),(12±6),and (11±5) U,respectively,the differences between SLE case group and disease control group,and healthy control group were significant (t=3.163,P=0.001 9;t=4.436,P＜0.01).The positive rates of F-actin autoantibodies were 33％(31/93) in patients with SLE,10％(7/72) in disease control group,and 4％(3/83) in healthy control group.The F-actin autoanti-bodies units in SLE were correlated with SLEDAI,IgG,ESR,anti-dsDNA,and ANA (r=0.273 7,P=0.008 3;r=0.558 7,P＜0.01;r=0.419 9,P=0.000 1,r=0.351 4,P=0.001 1,r=0.460 9,P＜0.01),in which F-actin autoantibodies units showed significant correlation with IgG and ANA.In the ROC curve,the area under the curve(AUC) was 0.62 [95％CI(0.54,0.70)],P=0.001 3.which was statistically significant.When the cut-off value of the F-actin autoantibodies was 14.04 U,the Youden's index (YI) was the largest (YI=0.30),and the sen-sitivity for the diagnosis of SLE was 0.77,the specificity was 0.53.Conclusion The positive rate of F-actin autoantibodies in the serum of patients with SLE is higher than that of RA and healthy controls,so it has certain diagnostic value for SLE.The F-actin autoantibodies units is correlated with both SLEDAI,ESR,and anti-dsDNA,suggesting that F-actin autoantibodies units may be a new biomarker for disease activity assessment of SLE patients.

Objective To observe the value of transesophageal echocardiography(TEE)for guiding left atrial appendage closure(LAAC)with LAmbre occluder.Methods Data of 40 non-valvular atrial fibrillation(NVAF)patients who underwent LA AC with LAmbre occluder were retrospectively analyzed.CT angiography(CTA)before treatment,TEE and digital subtraction angiography(DSA)findings during LAAC were comparatively observed,and the correlations of the anchor area diameter and left atrial appendage opening diameter measured with the above three as well as occluder size were analyzed,and TEE and DSA for evaluating peri-device leak(PDL)were compared.Results LAAC were successfully performed with LAmbre occlude in all 40 cases.The diameter of the fixed umbrella was positively correlated with anchor area diameter measured with CTA,TEE and DSA(r=0.79,0.82,0.91,all P＜0.01),of occlusion umbrella was positively correlated with left atrial appendage opening diameter measured with CTA,TEE and DSA(r=0.56,0.89,0.86,all P＜0.01).Immediately after the release of occluder in LAAC,PDL occurred in 16 cases and were detected with both TEE and DSA,while in the rest 24 cases no PDL was found with neither TEE nor DSA.Conclusion TEE had comparable value to DSA for guiding LAAC using LAmbre occluder.

Objective To understand the epidemiological characteristics of norovirus detection based on the diarrhea syndromic surveillance in Pudong ,Shanghai .Methods Diarrhea syndromic surveillance program was conducted in outpatient and emergency departments of 12 sentinel hospitals during 2012 -2016 .The clinical and epidemiological data of diarrheal patients were collected .The fecal specimens were also sampled . The detections for norovirus by polymerase chain reaction and gene sequencing were performed .Chi-square test or Fisher exact probability test was used to compare the detection rate .Binary logistic regression was used to explore the impact factors of norovirus infection among diarrheal patients . Results The detective rate of norovirus among diarrheal patients was 21 .59％ ,peaking from October to next March .Among all the age groups ,the detection rate was highest among patients with 25 - 64 years old .The patients with more severe diarrhea symptoms (> 5 times a day) were more likely to be infected with norovirus than those with diarrhea 3 - 5 times a day (χ2 = 21 .167 ,P< 0 .01) .Vomiting was also an indicator of norovirus infection .Patients presented with vomiting had a higher norovirus detection rate (χ2 = 198 .543 , P < 0 .01) . Norovirus G Ⅱ was the predominant genotype .Conclusions The recent epidemic of norovirus infection in diarrheal patients in Pudong new district has an apparent seasonality peaked from October to next March .Adult ,patients with vomiting and more severe diarrhea symptoms are at risk of norovirus infection .The long-term surveillance is critical for the norovirus infection control .

Objective: To investigate the optimal duration of pegylated-alpha interferon (Peg-INFα) combined with ribavirin (RBV) in treating chronic hepatitis C infection in human immunodeficiency virus (HIV)-infected patients. Methods: A multicenter prospective study was conducted. The study subjects were divided into two groups; HIV/HCV co-infections (Group A, n = 158) and control with HCV-monoinfections (Group B, n = 60). All recruited patients received standard Peg-INFα plus RBV therapy. Group A was divided into 3 subgroups according to CD4⁺ cell counts: A1 subgroup, 79 cases, CD4⁺ counts > 350 cells /μl, who received anti-HCV before combination antiretroviral therapy(cART); A2 subgroup, 45 cases, CD4⁺ counts between 200 and 350 cells/μl, who did not start anti-HCV until they could tolerate cART well; A3 subgroup, 34 cases, CD4⁺ counts < 200 cells /μl, cART was administered first, and anti-HCV therapy was started when CD4⁺ counts > 200 cells/μl. The anti-HCV efficacy of two groups and 3 subgroups were compared. Statistical analysis for normal distribution and homogeneity of variance data was calculated by t-test and the counting data was analyzed by χ ² test. The Mann-Whitney U test was used for non-normal data. A one-way analysis of variance (ANOVA) was used for the comparison of multiple groups, followed by SNK method. Multiple independent samples were used for non-parametric tests. Results: There was no significant difference in age and baseline HCV RNA levels between groups and subgroups (P > 0.05). By an intent-to-treat (ITT) analysis, in Group A, the ratio of complete early virological response (cEVR) rate was 75.3% (119/158), the ratio of end of treatment virological response (eTVR) rate was 68.4% (108/158), and the ratio of sustained virological response (SVR) rate was 48.7% (77/158); in Group B, the ratio of cEVR rate was 93.3% (56/60), the ratio of eTVR rate was 90.0% (54/60), and the ratio of SVR rate was 71.7% (43/60); The therapeutic index of Group A were lower than those of Group B (P≤0.05). By per-protocol (PP) analysis, the ratio of cEVR rate in Group A [75.2% (88/112)] was still lower than that in Group B [93.3% (56/60)], but no significant differences were found in the ratio of eTVR rate and SVR rate between 2 groups (P > 0.05). Comparing the efficacy of subgroups (A1, A2 and A3) by ITT analysis, the ratios of cEVR rate were respectively 78.5% (62/79), 75.6% (34/45) and 67.6% (23/34); the ratios of eTVR rate were respectively 68.4%(54/79), 80.0%(36/45)and 52.9%(18/34); and the ratios of SVR rate were respectively 41.8%(33/79), 64.4%(29/45)and 44.1%(15/34). The ratio of eTVR in subgroup A2 was obviously higher than that in subgroup A3 and the ratio of SVR in subgroup A2 was statistically higher than that of subgroup A1(P≤0.05). However, by PP analysis, no significant differences of the therapeutic indexes were found among the respective subgroups (P > 0.05). Conclusion HIV-HCV co-infected patients would have better anti-HCV efficacy with Peg-INFα-2a plus RBV than HCV- monoinfected patients. The best time for initiating anti-HCV therapy in HIV-HCV co-infected patients is when CD4⁺ counts 200 cells/ μl.