Objective　To analyze the epidemiological characteristics of varicella infectious diseases in Hainan Province from 2014 to 2023, and explore the epidemic patterns of varicella in Hainan Province. Methods　Download data related to chickenpox in Hainan Province from the Infectious Disease Reporting Information Management System and the Public Health Emergency Management System of the Chinese Disease Control and Prevention Information System, descriptive epidemiological methods were used to analyze the incidence characteristics of varicella; ARIMA model was used to predict the incidence trend. Results　From 2014 to 2023, a total of 65 832 cases of varicella and one death case were reported in Hainan, with an average annual incidence rate of 66.50/100 000, and the incidence rate fluctuated between 47.31/100 000 and 89.01/100 000. A incidence rate peak occurred every other year. The incidence of varicella showed a seasonal bimodal distribution, with peaks in January and April. The incidence of varicella was negatively correlated with temperature (r=-0.349，P<0.05). Children aged 0-14 years were the main incidence group, and the incidence rate reached its peak in the age group of 5-6 years. Students and young children were the main groups affected by the disease. The incidence rate of male (68.15/100 000) was higher than that of female (62.22/100 000)(χ2=16.80, P<0.05). The incidence rate of male (68.15/100 000) was higher than that of female (62.22/100 000). The 1 dose vaccination rate for 1-year-old children was on the rise, reaching a maximum of 43.2%; The two doses vaccination rate for children aged 4-6 years has been increasing year by year, with the highest reaching 9.9%. A total of 65 cases of varicella PHEE were reported, with M(P25, P75) of 24 (18, 32) cases per case, and a total incidence rate of 2.64%. Primary schools were the main places of occurrence. The ARIMA model has a good predictive fitting effect, and the results show that the predicted incidence in 2024 will increase compared to 2023. There may be peaks in incidence in January to June and October to December. Conclusions　The incidence rate of varicella is high in Hainan Province; A lower vaccination rate for varicella in children cannot break the natural prevalence of varicella among healthy children.

Objective:To investigate the clinical phenotype and prognosis among different genotypes of progressive familial intrahepatic cholestasis(PFIC) by cases analysis.Methods:The PFIC cases diagnosed at Beijing Children′s Hospital from 2015 to 2022 were collected, and the clinical phenotypic characteristics, treatment and prognosis were compared and analyzed.Results:A total of 628 cases of cholestatic liver disease were diagnosed, and 26 cases of PFIC were found, accounting for 4.1%.The number of PFIC 2 were the most, 14(53.8%)cases; three(11.5%) cases were PFIC 1; five(19.2%)cases were PFIC 3; while two(7.7%) cases were PFIC 4 and PFIC 6, respectively, and there was no case of PFIC 5.Type 1, 2, 4, and 6 had early onset ages(2 days to 21 months), while type 3 had a wide range of onset ages(8 to 145 months). The symptoms included jaundice(96.2%), pruritus(42.3%), and mucosal bleeding(15.4%). All three cases of type 1 had extrahepatic manifestations of diarrhea and malnutrition.Two cases of type 3 were found to have end-stage liver disease.Cases of PFIC 3 had increased serum γ-glutamyltransferase(97.2-439.5 U/L), while those of other types were normal.The bile acids were all increased(10.1-599.6 μmol/L). Abdominal ultrasound mainly showed liver enlargement(80.8%)and enhanced echogenicity of liver parenchyma(73.1%), enlargement of the spleen(61.5%). Ultrasound liver elastography ranged from 6.3 kPa to 23.1 kPa, there were 21(80.8%) cases ≥9 kPa.Among 26 cases, one case was lost to follow-up, and 11 cases were effective by oral medication alone.Fourteen children were still suffering from relapse or progress after drug treatment: four cases received liver transplantation (three cases had a good prognosis and one case died), two cases received biliary drainage, six cases were still taking drugs orally, and two cases died without active intervention in disease progress.Conclusion:Type 2 is the most common type in PFIC.The onset of most cases is in infancy.Jaundice, pruritus and hepatosplenomegaly are common clinical manifestations, and extrahepatic manifestations can be seen in type 1 cases.Type 3 cases can start with end-stage liver disease.Bile acid of all cases are increased.Except for type 3, the serum γ-glutamyltransferase of cases are normal.Oral medication has certain effects on some cases, but more than half progress, and some need biliary diversion or liver transplantation.

Objective To investigate chromosomal abnormalities in fetuses with conotruncal defects(CTD).Methods From January 2013 to February 2017,107 fetuses (singleton pregnancy) prenatally diagnosed as CTD in Beijing Anzhen Hospital were enrolled.Umbilical cord specimens of these fetuses were collected after termination of pregnancy and analyzed by low coverage whole gene sequencing to detect chromosomal aneuploidy and copy number variations.Types of chromosomal abnormalities in these cases were analyzed.Chi-square test was used for statistical analysis.Results Twenty-two cases (21％,22/107) were identified with chromosomal abnormalities.The most common seen chromosomal abnormalities were found in those with interrupted aortic arch (2/2),followed by those with tetralogy of Fallot and pulmonary atresia/stenosis accompanied with ventricular septal defect (28％,12/43).No chromosomal abnormalities were detected in fetuses with aortopulmonary septal defect (0/2).Differences were shown in the detection rates of chromosomal abnormalities among different types of CTD (x2=12.744,P=0.026).Among the 22 fetuses with chromosomal abnormalities,there were seven with abnormal aneuploidy (three trisomy-13s,two trisomy-18s,one trisomy-21 and one 45,X) and 15 with pathogenic copy number variations [11 cases with 22q11.2 microdeletion syndrome,two with 17p12p11.2 microdeletion (Smith-Magenis syndrome),one with 8p23.3p21.3 microduplication and one with 2p23.1p25.2 microdeletion].Of the 15 cases with pathogenic copy number variations,12 segments of microdeletion/microduplications were de novo and one was paternally inherited,while the causes of the other two were not clear because their parents refused chromosomal testing.Conclusions Fetal CTD are likely to be accompanied with aneuploidy abnormalities and chromosome microdeletions/microduplications and the detection rate of chromosomal abnormalities varied with the type of CTD.Microdeletion and microduplication,especially de novo microdeletions/duplications,are the common chromosomal abnormalities.Chromosome analysis is recommended for fetuses prenatally diagnosed with CTD.

Objective To investigate the effect of haplotype and linkage disequilibrium of PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 in patients with metabolic syndrome ( MS) in Kazakhs of Xinjiang.Methods MALDI-TOF-MS was used to detect PPARγgene rs3856806, rs12490265, rs1797912, and rs1175543 genotypes in 489 subjects ( including 245 MS and 244 controls ) .Results ( 1 ) The frequencies of rs3856806T, rs12490265A, rs1797912C and rs1175543G alleles for MS group in Kazakhs were all significantly lower than those for controls [ rs3856806T allele:12.53% vs 17.01%; rs12490265A allele: 31.84% vs 38.52%;rs1797912C allele:35.31%vs 43.24%;rs1175543G allele:40.61%vs 47.54%(all P<0.05)].(2)Significant linkage disequilibrium were observed between PPARγgene rs1797912 and rs1175543, rs12490265, and rs1175543 polymorphisms.(3)AGCC and GAAT were significantly different between MS and control group in Kazakhs(both P<0.05).(4) Carrying rs3856806T, rs12490265A, rs1797912C, rs1175543G was 0.267 times that of carrying rs3856806C, rs12490265G, rs1797912A, rs1175543A.Conclusions The PPARγgene rs3856806, rs12490265, rs1797912 and rs1175543 polymorphisms were associated with metabolic syndrome in Kazakhs.There were very strong linkage disequilibrium between PPARγgene rs1797912 and rs1175543, rs12490265 and rs1175543 polymorphisms, The AGCC haplotype and GAAT haplotype may serve as protective factors of metabolic syndrome.Carrying rs3856806T, rs12490265A, rs1797912C, and rs1175543G may confer lower risk of MS in Kazakhs.

Objective Tumor necrosis factor related apoptosis-inducing ligand(TRAIL)has been demonstrated that se-lectively induced cancer cells, but facilitated prosurvival response leading to resistance. It has been reported that genistein could inhibit nuclear factor-κB(NF-κB)exprotein and activaty. The purpose of this study was to examine the effects of genistein or TRAIL,or both on apoptosis of liver cancer stem-like cells(LCSLCs)derived from SMMC-7721 cell line. Methods The third passage sphere-forming cells (SFCs)derived from SMMC-7721 cell line which was also called LCSLCs were obtained though suspended culture in ultra-low adhesion plate with stem cell-conditioned medium. LCSLCs were treated with Genistein (10μM)and TRAIL (10 ng/mL)alone or in combination for 72 h. Histone/DNA fragment was tested using enzyme-linked immunosorbent assay (ELISA). And apoptosis rate was detected by flow cy-tometry (FCM) with propidium iodide(PI) staining; the protein expression of NF-κB(p65) was analyzed by western blot. Results The level of histone/DNA fragment(100%vs 152.6%)and apoptosis rate[(2.71±0.64)%vs (5.14±0.76)%] was increased moderately by genistein(10 μM) in LCSLCs(P<0.05), but TRAIL(10 ng/mL) has no effect on histone/DNA fragment level(100% vs 110%) and apoptosis rate[(2.71±0.64)% vs (3.15±0.72)%]. After preincubation with 10μM genistein for 1h, the combination with 10 ng/mL TRAIL lead to significantly increase of histone/DNA fragment level(100% vs 568%) and apoptosis rate[(2.71±0.64)% vs (17.3±1.27)%] (P<0.05). 10 ng/mL TRAIL induced NF-κB(p65)expression in LCSLCs. 10μM genistein could suppress the protein expression of NF-κB(p65). And the pro-tein expression of NF-κB (p65) was significantly attenuated by the combination of genistein and TRAIL. Conclusion The apoptosis of LCSLCs which is co-induced by genistein and TRAIL is associated with the inhibition of NF-κB.