ObjectiveTo understand the mortality trends among residents of Fuling District， Chongqing， before and after theCOVID-19 outbreak， and to provide references for the government to formulate disease prevention and control policies and measures. MethodsData on mortality and population in Fuling District from 2017 to 2022 were collected to analyze population mortality and standardized mortality rates， and to compare the changes in the causes of death by year and before and after the pandemic. ResultsFrom 2017 to 2022， the crude mortality rate in Fuling District showed an upward trend （APC=3.04%， P<0.05）， while the standardized mortality rate showed a downward trend （APC=-6.47%， P<0.01）. The mortality rate of males was higher than that of females （P<0.05）， with different age groups having different causes of death composition. The highest proportion of deaths in 0-year-old group was from infectious diseases， maternal and neonatal diseases， and nutritional deficiencies， the highest proportion of deaths in the 1‒24 age group， with the exception of those aged 5‒9， was from injuries， and the main cause of death for residents aged 25 and above was chronic diseases. The mortality rate of mental and behavioral disorders rose from the 13th to the 9th place. According to the epidemic situation of COVID-19， there were no changes in the top five causes of death among the entire population. The motility rate of endocrine， nutritional and metabolic diseases rose from the sixth to the fifth place in male population， and the motility rate of malignant tumor rose from the 3rd to the 2nd place in female population. ConclusionThere are no changes in the top five causes of death among the entire population of Fuling District before and after the COVID-19 outbreak. Chronic diseases remain the main cause of death. It is necessary to control the risk factors for cardiovascular and cerebrovascular diseases such as hypertension， diabetes， and dyslipidemia， and to curb the rising trend of mortality rates from strokes and acute myocardial infarction. For deaths caused by accidental injuries， targeted health education should be conducted for different populations.

Objective To compare the value of Child-Pugh score, Model for End-Stage Liver Disease (MELD) score, MELD combined with serum sodium concentration (MELD-Na) score, CLIF Consortium Acute Decompensation (CLIF-C AD) score, and Freiburg index of post-transjugular intrahepatic portosystemic shunt (TIPS) survival (FIPS) score in predicting the survival of patients undergoing TIPS. Methods A retrospective analysis was performed for the clinical data of 447 patients with liver cirrhosis who underwent TIPS in several hospitals in southwest China, among whom there were 306 patients in the survival group and 62 in the death group. The scores of the above five models were calculated, and a survival analysis was performed based on these models. The independent samples t -test was used for comparison of normally distributed continuous data between groups, and the non-parametric Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups; the Pearson chi-square test was used for comparison of categorical data between groups; a multivariate Cox regression analysis was used for correction analysis of known influencing factors with statistical significance which were not included in the scoring models; the Kaplan-Meier method was used to evaluate the discriminatory ability of each model in identifying risks in the surgical population, and the log-rank test was used for analysis. The area under the receiver operating characteristic curve (AUC), C-index at different time points, and calibration curve were used to evaluate the predictive ability of each scoring model. Results Compared with the death group, the survival group had significantly lower age ( Z =2.884, P < 0.05), higher albumin ( t =3.577, P < 0.05), and Na + ( Z =-3.756, P < 0.05) and significantly lower proportion of patients with alcoholic cirrhosis ( χ 2 =22.674, P < 0.05), aspartate aminotransferase ( Z =2.141, P < 0.05), prothrombin time ( Z =2.486, P < 0.05), international normalized ratio ( Z =2.429, P < 0.05), total bilirubin ( Z =3.754, P < 0.05), severity of ascites ( χ 2 =14.186, P < 0.05), and scores of the five models (all P < 0.05). Survival analysis showed that all scoring models effectively stratified the prognostic risk of the patients undergoing TIPS. Comparison of the C-index of each scoring model at different time points showed that Child-Pugh score had the strongest ability in predicting postoperative survival, followed by MELD-Na score, MELD score, and CLIF-C AD score, and FIPS score had a relatively poor predictive ability; in addition, the prediction efficiency of each score gradually decreased over time. Child-Pugh score had the largest AUC of 0.832 in predicting 1-year survival rate after surgery, and MELD-Na score had the largest AUC of 0.726 in predicting 3-year survival rate after surgery, but FIPS score had a poor ability in predicting 1- and 3-year survival rates. Conclusion All five scoring models can predict the survival of patients with liver cirrhosis after TIPS and can provide effective stratification of prognostic risk for such patients. Child-Pugh score has a better ability in predicting short-term survival, while MELD-Na score has a better ability in predicting long-term survival, but FIPS score has a relatively poor predictive ability in predicting both short-term and long-term survival.

【Objective】 To study the concordance of identifying the presence or absence of KIR genes using flow reverse sequence-specific oligonucleotide probe (Flow-rSSO) hybridization and sequencing based typing-PCR (PCR-SBT) methods. 【Methods】 A total number of 131 cases of DNA samples from Han population were subjected to identify the presence or absence of all 16 KIR genes by Flow-rSSO method, and then sequenced at coding sequence for all 14 functional KIR genes using our in-house KIR PCR-SBT assay. The concordance of identifying the presence or absence of all functional KIR genes by Flow-rSSO and PCR-SBT was analyzed. Samples with inconsistent initial results were re-tested using the Flow-rSSO commercial kits with different Lot number, and further tested using the PCR-SSP commercial kit. 【Results】 The presence or absence of 14 functional KIR genes for 129 of 131 samples were completely in accordance via the PCR-SBT and Flow-rSSO methods. Two samples, one with 3DL1 negative, the other with both 2DS3 and 2DS5 negative initially-identified by Flow-rSSO, were actually all positive tested by PCR-SBT. Further retest by Flow-rSSO commercial kits with different Lot number and PCR-SSP commercial kit indicated that the two samples were all positive, which agreed well with PCR-SBT results. 【Conclusion】 In this paper, the initial test results of the presence or absence of KIR genes identified by Flow-rSSO for 2 samples were wrong, which indicated the importance of carrying out the quality control for reagents in KIR gene testing.

Objective:To investigate Mycoplasma pneumoniae pneumonia (MPP) infected by Mycoplasma pneumoniae (MP) in children of different age and gender admitted to the Pediatric and Respiratory Departments of 31 public hospitals in different regions of Shandong province in autumn and winter, and to further analyze the epidemiological characteristics of MPP in children.Methods:A cross-sectional study was conducted to collect and summarize basic information, epidemiological characteristics of children with MPP, laboratory and etiological test results of hospitalized from 31 public hospitals in Shandong Province from September 1, 2021 to December 15, 2021 through questionnaire issuance.The differences between groups were compared by the χ2 test. Results:Among 39 970 children hospitalized in 31 hospitals from September 1, 2021 to December 15, 2021, 17 613 were diagnosed with MPP, with a prevalence rate of 44.07%.There were more children diagnosed with MPP in Eastern Shandong than those in other regions.Serological tests were the main method of confirming the disease (16 730 cases, 76.06%). The combined infections in MPP patients were primarily caused by the influenza B virus and Streptococcus pneumoniae.A total of 33.03% (5 817/17 613 cases)of children with MPP underwent bronchoscopy.The main indication was atelectasis, and mucosal erosion/ulcers were found in most of the children.The main complication of MPP was pleural atelectasis (23.47%, 4 133/17 613 cases). Severe intrapulmonary and extrapulmonary complications also occurred in some patients, including necrotizing pneumonia (0.53%, 94/17 613 cases), pulmonary embolism (0.16%, 29/17 613 cases) etc. Conclusions:The prevalence of MPP in children in Shandong province is high in autumn and winter.It is necessary to pay attention to the clinical examination indicators of hospitalized children with MPP, actively give treatment to children with MPP, prevent the occurrence of complications, and promote the physical recovery of children.

Objective:To analyze the clinical characteristics in patients with persistent positive pharyngeal swab of 2019 novel coronavirus Omicron variant and results of nucleic acid testing of anal swabs to provide basis for prevention and control measures.Methods:This study included 93 patients whose pharyngeal swab nucleic acid test were persistent positive and admitted to the ward of Daping Hospital in the National Exhibition and Convention Center (Shanghai) Makeshift Hospital from May 1 to May 24, 2022. The gender, age, underlying diseases, vaccination status, clinical symptoms, interval between infection onset and anal sampling, length of hospital stay, the nucleic acid test result of pharyngeal swabs and anal swabs and the time turning negative were collected and analyzed.Results:The age of 93 patients ranged from 8 to 72 years old with a median of (46.0±16.0) years old. Among them, 30 cases (32.3%) were male and 63 cases (67.7%) were female. Sixty-five patients (69.9%) received 2-3 shots of vaccine, 2 patients (2.1%) received 1 shot, and 26 patients (28.0%) did not receive any vaccination. Twenty patients (21.5%) had underlying diseases, of which hypertension (13 cases, 14.0%) and type 2 diabetes mellitus (6 cases, 6.5%) were the most common. Twenty-four patients (25.8%) had asymptomatic infection and the rest (69 cases, 74.2%) had mild symptoms. Cough (50 cases, 53.8%) and sore throat (28 cases, 30.1%) were the most common clinical manifestations of the upper respiratory tract in these patients. Only 6 patients (6.5%) had gastrointestinal symptoms (including diarrhea in 5 patients and diarrhea with vomiting in 1 patient). Pharyngeal and anal swabs were collected simultaneously from all 93 patients at 8-16th days [(11.55±2.27) days] after 2019 novel coronavirus Omicron variant infection. The pharyngeal swabs were positive in 79 patients (85.0%) and the anal swabs were positive in 5 patients (5.4%). The time of pharyngeal swabs turning negative was (14.7±2.9) days, and that of anal swab turning positive was (14.2±1.9) days. The median length of hospital stay was (16.7±2.9) days.Conclusions:In patients with persistent positive nucleic acid of the 2019 novel coronavirus Omicron variant, there were more mild infection than asymptomatic. The upper respiratory tract symptoms such as cough and sore throat were the most. The likelihood of transmission of 2019 novel coronavirus Omicron variant through the digestive tract may be low. The correlation between gastrointestinal symptoms and 2019 novel coronavirus Omicron variant RNA in the digestive tract is uncertain.

OBJECTIVE: To explore the genetic basis of three children with unexplained mental retardation/developmental delay. METHODS: Peripheral venous blood samples were collected for routine G-banding karyotyping analysis and chromosomal microarray analysis (CMA). Whole exome sequencing (WES) was also carried out for patient 3. RESULTS: The karyotypes of the 3 children were normal. The result of CMA analysis of patient 1 was arr[GRCh37]: 2q22/3(145 128 071-145 159 029)×1, with a 31 kb deletion, which was predicted to be a pathogenic copy number variation. The deletion has involved exons 8 to 10 of the ZEB2 gene. Patient 2 was arr[hg19]:2q22.3 (145 071 457-146 881 759)×1, with a 1.81 Mb deletion involving the ZEB2 and GTDC1 genes. Patient 3 was arr[GRCh37]: 9p23p23(11 698 261-12 106 261)×1, with a 408 kb deletion containing no disease-associated gene. WES has identified a c.2102C>A (p.Ser701*) variant in exon 8 of the ZEB2 gene, which was included in ClinVar database and rated as pathogenic, and verified by Sanger sequencing as a de novo variant. CONCLUSION For the substantial clinical and genetic heterogeneity of Mowat-Wilson-syndrome, CMA and WES are helpful to identify the etiology of children with developmental delay/mental retardation of unknown causes, particularly those with peculiar facial features and multiple congenital malformations.
Child ; DNA Copy Number Variations ; Facies ; Glycosyltransferases/genetics* ; Hirschsprung Disease ; Humans ; Intellectual Disability/genetics* ; Microcephaly/genetics*

OBJECTIVE: To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness. METHODS: The infant was subjected to genetic testing, and her clinical features were compared with syndromes associated with variants of the candidate gene. RESULTS: The patient has featured long fingers, long and overlapped toes, musk-like face, blepharophimosis, ptosis, and lacrimal duct anomaly. She was found to harbor a heterozygous de novo variant NM_012330.3: c.3040C>T (p.Gln1014*) in exon 16 of the KAT6B gene. Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS). CONCLUSION The child was diagnosed with SBBYSS syndrome due to the c.3040C>T (p.Gln1014*) variant of the the KAT6B gene. Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.
Female ; Humans ; Blepharophimosis/genetics* ; Blepharoptosis ; Genotype ; Histone Acetyltransferases ; Infant

Objective:To explore and optimize the teaching content of clinical case discussion course based on clinical pathophysiology and therapy (CPPT), and to improve the teaching quality of this course.Methods:Self-compiled evaluation form was sent to all the students who participated in this course in 2016-2017 school year, and the teaching satisfaction and teaching characteristics were evaluated. The differences of evaluation results from students with different educational programs or teachers with different seniority were compared, and the correlation between evaluation results and teachers' seniority was analyzed.Results:The students had a high evaluation on the course, but students from different programs had significant different comments on thinking inspiring, speech encouraging, questions guiding, process holding and effective feedback, as well as the self-evaluation of mastery degree. For teachers with different seniority, there were significant differences in scores in all aspects except speech encouraging, but no differences in mastery degree. Spearman analysis showed that there was a certain correlation between scores and teachers' seniority.Conclusion:The overall situation of the CPPT case discussion course in our school is worthy of recognition, but it needs to be improved in many aspects.

【Objective】 To investigate the management of adverse reactions to blood donation(ARBD) in blood services, so as to promote the surveillance of ARBD and improve the quality of blood donation service in Chongqing. 【Methods】 A questionnaire, involving the staff and facilities in blood donation sites as well as the prevention and treatment, the record and report, the following up and data related to ARBD was developed by Chongqing Society of Blood Transfusion in February 2019, and was issued to 18 blood services(1 blood center and its sub-center, 6 central blood stations and 11 hospital blood banks) in the Chongqing via email. The questionnaire was filled in and submitted before March 31 by management personnel participating in the investigation, and the data was collected, collated, revised and analyzed by Excel 2011. 【Results】 A total 19 questionnaires were collected, with the valid rate at 100%(19/19). 78.95%(15/19) of the blood services met the requirements of medical personnel allocation(>6 medical staff) when the number of daily blood collection was more than 60, and 100%(19/19)met the requirements of medical personnel allocation(2 to 6 medical staff) when the number of daily blood collection was less than 60. 89.47%(17/19) of the blood services were equipped with epinephrine hydrochloride, and 84.21%(16/19) with dexamethasone(an anti-allergic drug). There were significant differences in the allocation of other types of drugs. 100.00%(19/19) of the blood services formulated prevention and treatment measures concerning ARBD. In 2019, the incidence of ARBD in Chongqing was reported to be 0.54%(1 958 / 359 871), with the highestas [1.35%(223/16 543)] in subcenters and the lowest [0.32%(179/56 299)] in central blood centers (P<0.05). There was statistical significances in the incidences of ARBD reported by different blood stations(P<0.05). 【Conclusion】 The monitoring and management of ARBD among blood services in Chongqing should be further standardized in terms of staffing allocation, emergency drugs allocation and reporting, so as to gradually realize regional homogenization and ensure blood safety.