Objective To analyze the pathogenic composition of hand, foot and mouth disease (HFMD) cases and the antibody level of enterovirus 71 (EV-A71) in healthy people in Xi'an in 2022, so as to provide evidence for the prevention and control of HFMD. Methods Anal swabs or stool specimens of HFMD cases were collected. RT-PCR was used to detect enterovirus (EV) and serotype was identified. Enzyme-linked immunosorbent assay (ELISA) was used to detect EV-A71 IgG antibody levels in healthy people. Results A total of 172 positive cases were detected from 274 HFMD clinical specimens with a total detection rate of 62.77%, including 1 case of EV-A71 (0.58%), 95 cases of CV-A16 (55.23%), 64 cases of CV-A6 (37.21%), and 1 case of CV-A10(0.58%). CV-A16 was the dominant pathogen in spring and summer, and CV-A6 was the dominant pathogen in autumn and winter（χ²= 64.376，P＜0.001）. The age of HFMD cases caused by CV-A16 was older than the cases caused by CV-A6（t = 2.709，P = 0.007）. The positive rate of EV-A71 IgG antibodies in healthy people was 36.92% (168/455). The positive rate of EV-A71 IgG antibodies in men (32.35%) was lower than that in women (43.72%), and the difference was statistically significant (χ²= 6.605 , P = 0.014). The positive rate of EV-A71 IgG antibodies in people of all ages ranged from 21.95% to 54.78%, and the difference was statistically significant (χ²= 27.623 , P<0.001). Conclusion The main pathogens of hand, foot and mouth disease in Xi'an in 2022 are CV-A16 and CV-A6 . The positive rate of EV-A71 IgG antibodies in children under 5 years old is low , and EV-A71 vaccination should be strengthened.

Objective:To evaluate the effectiveness of ultrasound assessing the risk of gastric content aspiration in patients undergoing emergency abdominal surgery.Methods:This was a prospective self-control study. Seventy-three American Society of Anesthesiologists Physical Status classification Ⅰ-Ⅲ patients, aged >18 yr, who underwent emergency abdominal surgery in Beijing Daxing District People′s Hospital from June 2022 to December 2023, were selected. Time method assessment: The time and category of fasting and no-drinking were inquired, the patient′s gastric emptying status and risk of gastric content aspiration were assessed based on the time of fasting and no-drinking, and a preliminary anesthesia plan was formulated. Ultrasound method assessment: The properties of gastric contents were determined, the cross-sectional area of the gastric antrum was measured, the volume of gastric fluid was estimated, the Perlas grading of the gastric antrum was performed to assess the risk of gastric content aspiration, and a final anesthesia plan for implementation was formulated.Results:The number of patients with a high-risk of gastric content aspiration determined by the time method and ultrasound method was 2 cases (3%) and 11 cases (15%), respectively, with a statistically significant difference between the two methods ( P<0.05). The risk class of gastric content aspiration changed after ultrasound examination in 11 patients. One patient with a high risk determined by the time method was identified as having a low risk by the ultrasound method, and the other 10 patients with a low risk determined by the time method were identified as having a high risk by the ultrasound method. There was a statistically significant difference in the anesthesia induction plans formulated based on two methods ( P<0.05), while there was no statistically significant difference in the airway maintenance plans between the two methods ( P>0.05). Regurgitation of gastric contents occurred only in one case (1.4%), and no gastric content aspiration was found in any case. Conclusions:Preoperative gastric ultrasound examination can be used to assess the risk of gastric content aspiration and guide the formulation of anesthesia plans for the patients undergoing emergency abdominal surgery.

Objective·To analyze the expression of cancer-testis antigen(CTA)family member SPANXB(sperm protein associated with the nucleus on the X chromosome B)in liver cancer and its correlation with the prognosis of liver cancer patients,and to explore the impact of SPANXB on liver cancer cell proliferation and its potential mechanism.Methods·By using liver cancer sample data from the cancer genome atlas(TCGA)database,the expression of SPANXB in liver cancer tissue and its correlation with patient survival were analyzed.By constructing stable knockdown of SPANXB and stable overexpression of SPANXB in liver cancer cell lines,the effects of SPANXB on liver cancer cell proliferation were evaluated with live cell imaging experiments,EdU cell proliferation experiments and plate clone formation experiments.The regulatory pathways of SPANXB in liver cancer cell proliferation were explored through RNA-sequence(RNA-seq),and the effect of SPANXB on liver cancer cell cycle was validated through cell cycle experiments.Immunoprecipitation-mass spectrometry(IP-MS)was used to explore the proteins that interacted with SPANXB,and co-immunoprecipitation(Co-IP)was used to verify their interaction.Results·The expression of SPANXB mRNA in liver cancer tissues was higher than that in normal tissues(P=0.003),and was negatively correlated with the survival of liver cancer patients.Stable knockdown of SPANXB could reduce the proliferation and clone formation ability of liver cancer cells,while stable overexpression of SPANXB could promote these processes.The analysis results of RNA-seq showed that knockdown of SPANXB could lead to downregulation of DNA replication and G1/S cell cycle transition-related pathways.The results of cell cycle experiments showed that knockdown of SPANXB could result in changes in the liver cancer cell cycle.The results of IP-MS and Co-IP showed that SPAXNB interacted with cell cycle-related proteins such as mitotic arrest defect 2-like protein 1(MAD2L1)and WD repeat domain 5(WDR5).Conclusion·The high expression of SPANXB is negatively correlated with the prognosis of liver cancer.SPANXB may regulate the cell cycle and enhance the proliferation activity of liver cancer cells by interacting with MAD2L1 and WDR5.

This article reported the genetic analysis of a case diagnosed with fetal micrognathia and cleft palate by mid-trimester ultrasound in two consecutive pregnancies. In the first pregnancy, the pregnant woman delivered a full-term boy transvaginally, who died two weeks after birth and was diagnosed with Pierre Robin sequence (PRS). Chromosome karyotype and genomic copy number variation. In the second pregnancy, the woman underwent amniocentesis due to suspected PRS presenting by fetal cleft palate, micrognathism, and additional ultrasound anomalies. No abnormalities were detected in fetal karyotype or genomic copy number variation. Whole-exome sequencing, bioinformatics analysis, and Sanger sequencing suggested that both the fetus and the firstborn boy inherited a possible pathogenic variant of c.79delG p.E27Sfs*24 in the BMP2 gene from the mother. The pregnancy was terminated after the genetic consultation. Fetal phenotypes in the two fetuses were similar, indicating that short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomaly in the pedigree were caused by the heterozygous variant of c.79delG p.E27Sfs*24 in the BMP2 gene.

Objective:To analyze the etiological and epidemiological characteristics of hand, foot and mouth disease (HFMD) in Xi′an from 2019 to 2021, so as to provide evidence for the prevention and control of HFMD.Methods:Stool specimens and anal swabs were collected from patients with HFMD. Enteroviruses (EVs) including enterovirus 71 (EV71), coxsackievirus A16 (CVA16), CVA6 and CVA10 were detected by RT-PCR. Excel 2007 and SPSS18.0 software were used for data collection and statistical analysis, respectively. The epidemiological data of HFMD cases were analyzed by descriptive epidemiology method. The VP1 gene sequence of the representative strain of each CVA6 genotype was downloaded. Phylogenetic trees were constructed using MEGA X software and the genetic characteristics were analyzed.Results:A total of 1 531 HFMD cases were involved and 1 365 were positive for EVs with a positive rate of 89.16%. The detection rates of EV71, CVA16, CVA6, CVA10 and other EVs were 1.31% (20/1 531), 32.46% (497/1 531), 38.47% (589/1 531), 5.09% (78/1 531) and 11.23% (172/1 531), respectively. There were significant differences in the pathogen composition in HFMD cases of different clinical types (χ 2=46.14, P<0.01) and occupations (χ 2=34.65, P<0.01) as well as in different years (χ 2=462.86, P<0.01). The average age was greater in patients with CVA16 infection than in those with CVA6 or CVA10 infection ( F=6.00, P<0.01). In 2019, the HFMD cases were mainly caused by CVA16, while in 2020 and 2021, the main pathogen was CVA6. Enterovirus-positive cases showed a bimodal distribution with the main peak from May to July and the secondary peak from September to November. CVA16 was the predominant pathogen in spring and summer, and CVA6 was the predominant pathogen in autumn. CVA6 was the dominant pathogen in eight districts and counties of Xi′an; CVA16 was the dominant pathogen in six districts and counties; CVA6 and CVA16 co-circulated in one district. The CVA6 isolates belonged to two evolutionary branches of D3a subtype. Conclusions:CVA6 and CVA16 were the prevalent pathogens of HFMD and CVA6 subtype D3a circulated in Xi′an from 2019 to 2021. The pathogen composition of HFMD cases showed obvious differences in population, time and regional distribution.

Objective:To characterize the epidemiology of hand, foot and mouth disease (HFMD) cases caused by coxsackievirus group A type 6 (CV-A6) in Xi’an from 2016 to 2020 and provide evidence for the prevention and control of HFMD.Methods:The enterovirus (EV) types were identified using real-time RT-PCR. The data of HFMD cases were collected from the National Notifiable Infectious Diseases Reporting System of China Center for Disease Control and Prevention. Descriptive epidemiological method were used to analyze the distributions and the data were statistically analyzed with Excel 2007 and SPSS 18.0.Results:In the 4 034 HFMD cases, 17.85% had enterovirus group A type 71 (EV-A71) infections, 23.92% had coxsackievirus group A type 16 (CV-A16) infections, and 47.79% had other EV infections. 2 571 HFMD cases were randomly selected, including 1 268 other EV positive cases. The detection rate of CV-A6 in HFMD cases was 34.73% (893/2 571), and the constituent ratio of CV-A6 in other EV positive cases was 70.43% (893/1 268). The cases mainly occurred in children aged≤5 years (95.18%), more boys were affected than girls (1.47∶1). HFMD caused by CV-A6 was concentrated in April to June. Compared with EV-A71 and CV-A16, the clinical classification had significant difference in CV-A6 group ( χ2=139.55, P<0.001), but the ratio of sex and age-group had no significant difference ( F=2.74, P=0.065; χ2=2.43, P=0.297). Conclusions:The predominant pathogen of HFMD in Xi’an from 2016 to 2020 were other EV, among which CV-A6 accounted for the highest proportion in other EV positive cases. It is necessary to strengthen the prevention and control of HFMD caused by CV-A6 and carry out the surveillance for various pathogens of HFMD.

OBJECTIVE: To investigate the clinical features of fetuses with Wolf-Hirschhorn syndrome(WHS) and explore the diagnostic methods and prenatal ultrasound characteristics and provide evidence for prenatal genetic counseling. METHODS: We retrospectively analyzed 5 cases of WHS fetuses diagnosed from March 2016 to February 2020, and analyzed the results of chromosomal karyotype analysis and chromosomal microarray analysis (CMA) of the fetuses. RESULTS: Five cases of WHS were detected by CMA, four cases were detected by karyotype analysis. Prenatal ultrasound revealed 4 abnormalities, of which 3 had intrauterine growth restriction, and only 1 had abnormalities of the maxillofacial region. The sequence of the fragments was 4p16.3p16.1 with a loss of 6.5 Mb, 4p16.3p15.32 with a loss of 15.6 Mb combined with 2p25.3 increased by 906kb, 4p16.3p15.31 with a loss of 20.4 Mb, 4p16.p15.1 with a loss of 35 Mb and 4p16.3p14 with a loss of 37 Mb. CONCLUSION Fetal growth restriction may be one of the early manifestations of WHS. Absence of fetal facial abnormality by prenatal ultrasound screening cannot exclude WHS. Karyotype analysis may miss the diagnosis of WHS, while combined CMA techniques can improve the diagnostic accuracy.
Chromosomes, Human, Pair 4/genetics* ; Female ; Fetal Growth Retardation/genetics* ; Humans ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies ; Wolf-Hirschhorn Syndrome/genetics*

OBJECTIVE: To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD). METHODS: Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology. RESULTS: Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity. CONCLUSION SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.
Child ; Chromosome Aberrations ; DNA Copy Number Variations ; Developmental Disabilities/genetics* ; Humans ; Intellectual Disability/genetics* ; Karyotyping

Objective:To understand the composition of the pathogen spectrum of hand, foot and mouth disease(HFMD)in Xi′an from 2017 to 2018 and the genetic characteristics of enterovirus 71 (EV-A71).Methods:From 2017 to 2018, 1735 anal swab specimens from HFMD patients in Xi′an HFMD sentinel hospitals were collected, and qPCR was used to identify EV-A71, Coxsackie virus A 16 (CV-A16) and other enteroviruses. Selected EV-A71 strains were isolated, and VP1 region was amplified and sequenced, then phylogenetic tree and homologic comparison were conducted.Results:A total of 1 565 positive samples of enterovirus RNA were detected, positive rate was 90.20%(1565/1735), of which 24.79%(388/1 565)were positive for EV-A71, 21.85%(342/1 565)were positive for CV-A16, and 53.36%(835/1 565)were positive for other enterovirus. The main pathogen in 2017 was EV-A71(45.08%) and in 2018 was non-EV-A71-non-CV-A16 enteroviruses (73.38%), and the difference in pathogen composition was statistically significant ( χ2=370.57, P<0.001). HFMD caused by EV-A71 was concentrated in April to July, accounting for 73.97% (287/388) of the total cases. The homology analysis of the EV-A71 VP1 region showed that the 20 isolated EV-A71 strains belonged to the C4a subtype, with nucleotide and amino acid homology of 94.4%-96.1% and 99.4%-100% respectively, which were separated from those of the previous Xi′an City, the homology of EV-A71 obtained was above 91.5%. The result of the genetic evolution analysis of the EV-A71 VP1 region showed that the EV-A71 strain and the representative strain of the C4a subtype in Xi′an from 2008 to 2018 were in the same branch, forming multiple epidemic clusters, the variation degree of VP1 region increased with time. Conclusions:Non-EV-A71-non-CV-A16 enteroviruses were the main pathogens of HFMD in Xi′an from 2017 to 2018, and C4a subtype EV-A71 is still circulating in Xi′an. The monitoring of the pathogen spectrum and molecular epidemiology of HFMD should be strengthened to provide work for further effective prevention and treatment of HFMD.

Objective:To explore the positive rates of 2019-nCoV nucleic acid at different time of courses of COVID-19.Methods:Patients with confirmed COVID-19 were enrolled in this study. Nasal and throat swabs were collected from different courses of disease. Real-time RT-PCR was used to detect 2019-nCoV nucleic acid.Results:From January 23 to February 20, 2020, a total of 120 confirmed cases of COVID-19 were reported in Xi’an, and 85 cases(70.83%) were positive in first detection. The COVID-19 cases included consistently nucleic acid positive and intermittently nucleic acid positive patients. 2019-nCoV nucleic acid could be detected in incubation period, and the longest observed duration of nucleic acid positive in this study was 26 days. The positive rate of 2019-nCoV nucleic acid was up to 84.21% on the 6th day, and the positive rate decreased as time passed during the course of COVID-19. Three patients (2.86%) were tested positive for 2019-nCoV nucleic acid again in nasal and throat swabs after discharge.Conclusions:The positive rate of 2019-nCoV nucleic acid was higher in the early stage of disease. 2019-nCoV nucleic acid can be detected in incubation period, and virus shedding may last for a long period.