Objective:To analyze the intrauterine ultrasound manifestations and postnatal follow-up outcomes of fetuses with 2q13 microdeletion.Methods:This retrospective study involved 23 cases of 2q13 microdeletion, diagnosed via amniotic fluid chromosome karyotyping and single nucleotide polymorphism-array (SNP-array) following amniocentesis, between January 1, 2018, and September 1, 2022, at Wuxi Maternity and Child Health Care Hospital. Descriptive statistical analysis was applied to prenatal diagnostic indications, intrauterine ultrasound findings, prenatal diagnosis results, and postnatal follow-up outcomes.Results:(1) The prenatal diagnostic indications for the 23 cases of 2q13 microdeletion included seven cases (30.4%) of high-risk serological screening, six cases (26.1%) of increased nuchal translucency (NT), two cases (8.7%) of fetal heart defects, two cases (8.7%) of advanced maternal age, two cases (8.7%) of fetal choroid plexus cysts (one of which was also associated with high-risk serological screening), one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of non-invasive prenatal testing suggesting chromosomal abnormalities, one case (4.3%) of fetal obstructive polycystic kidneys, one case (4.3%) of fetal subependymal cysts, and one case (4.3%) of fetal growth restriction. (2) Intrauterine ultrasound findings included six cases (26.1%) of NT thickening, four cases (17.4%) of intrauterine growth restriction, two cases (8.7%) of fetal heart defects, two cases (8.7%) of choroid plexus cysts, one case (4.3%) of oligohydramnios, one case (4.3%) of suboptimal fetal nasal bone fusion, one case (4.3%) of short long bones in the fetus, one case (4.3%) of polyhydramnios with large fetal abdominal circumference, one case (4.3%) of large fetal abdominal circumference, short long bones, and subependymal cysts of the brain ventricles, and one case (4.3%) of fetal obstructive polycystic kidneys; the remaining six cases (26.1%) showed no abnormal ultrasound findings. (3) Chromosome karyotyping revealed three cases of chromosomal structural abnormalities, one case of sex chromosome numerical abnormalities, and the remaining 19 cases showed no abnormalities. Amniotic fluid SNP-array results indicated deletions ranging from 104 to 1 745 kb. Parental verification was performed in ten cases, showing maternal inheritance in four cases, paternal inheritance in five, and one case of a de novo mutation. (4) Four cases (17.4%) opted for pregnancy termination, while 19 cases (82.6%) resulted in live births. The 19 live-born children underwent telephone and child health follow-up, with ages at follow-up being 3 years (ranging from 9 to 58.8 months). Apart from two cases that did not undergo newborn congenital heart disease screening, the remaining 17 surviving infants were screened without any abnormalities. Five cases had abnormal growth and development during follow-up: one 18-month-old with mild language developmental delay, one 3-year-old plus 26 days with mild language developmental delay, one 18-month-old with language developmental delay, one 3-year-old with astigmatism, and one 30-month-old with refractive error in both eyes during a physical examination; the other 14 children showed no significant abnormalities in growth and development. Conclusions:The intrauterine ultrasound manifestations of fetuses with 2q13 microdeletion are non-specific, and most of them are inherited from their parents. Postnatal follow-up should pay attention to the development of the nervous system of children.

Background::Familial hypercholesterolemia (FH) is underrecognized, and its association with coronary artery disease (CAD) remains limited, especially in China. We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort.Methods::FH was defined using the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria. The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR) project during 2007-2008. The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up (2018-2020).Results::Among 98,885 included participants, 190 participants were defined as FH. Crude and age-sex standardized prevalence and 95% confidence interval (CI) of FH were 0.19% (0.17%–0.22%) and 0.13% (0.10%–0.16%), respectively. The prevalence varied across age groups and peaked in the group of 60–<70 years (0.28%), and the peak prevalence (0.18%) in males was earlier, yet lower than the peak crude prevalence in females (0.41%). During a mean follow-up of 10.7 years, 2493 cases of incident CAD were identified. After multivariate adjustment, FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants.Conclusions::The prevalence of FH was estimated to be 0.19% in the participants, and it was associated with an elevated risk of incident CAD. Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.

Background::Familial hypercholesterolemia (FH) is underrecognized, and its association with coronary artery disease (CAD) remains limited, especially in China. We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort.Methods::FH was defined using the Make Early Diagnosis to Prevent Early Death (MEDPED) criteria. The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China (China-PAR) project during 2007-2008. The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up (2018-2020).Results::Among 98,885 included participants, 190 participants were defined as FH. Crude and age-sex standardized prevalence and 95% confidence interval (CI) of FH were 0.19% (0.17%–0.22%) and 0.13% (0.10%–0.16%), respectively. The prevalence varied across age groups and peaked in the group of 60–<70 years (0.28%), and the peak prevalence (0.18%) in males was earlier, yet lower than the peak crude prevalence in females (0.41%). During a mean follow-up of 10.7 years, 2493 cases of incident CAD were identified. After multivariate adjustment, FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants.Conclusions::The prevalence of FH was estimated to be 0.19% in the participants, and it was associated with an elevated risk of incident CAD. Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.

Objective To evaluate cardiac biomarkers as biological risk factors for cardiovascular and all-cause motality in HD patients.In addition,a multimarker approach including inflammatory index was performed to improve the cardiovascular and all-canse risk assessment of these patients.Methods The author measured Troponin-T (TnT),N-terminal pro brain natriuretic peptide (NT-proBNP) and high-sensitivity C-reactive protein (HsCRP),collected the clinical data at baseline (January 2012) in 229 HD patients in three hemodialysis centers in Haidian District of Beijing,recorded time and cause of death in the next 1000 days.Kaplan-Meier was used to calculate survival rate and impact factors of prognosis.Cox proportional hazard model was used to estimate significance of =TnT,NT-proBNP and HsCRP and adjusted hazard ratios (HRs) of death.Results During the followup,37 patients died,mainly from cardiac cause (54.05％,20/37).Univariate analysis found old age,diabetes,cardiovascular disease,low serum albumin,CRP≥3 mg/L,TnT≥0.1 mg/L,NT-proBNP≥ 4381 ng/L were associated with prognosis.Elevated cTnT,NT-proBNP or HsCRP were all associated with increased cardiovascular and all-cause motality.Moreover,the combination of all parameters (NTproBNP≥4381 ng/L and TnT≥0.1 mg/L and HsCRP≥3 mg/L) were dramatically associated with increased cardiovascular cause mortality (HR=25.25,P ＜ 0.01) and all-cause mortality (HR=27.33,P ＜ 0.01).The association were significant even after full adjustment for cardiovascular (HR=14.33,P ＜ 0.01) and all-cause mortality (HR=1 1.54,P ＜ 0.01) respectively.Conclusions A combined index of cardiovascular risk factors could provide supplementary risk stratification in HD patients for cardiovascular mortality and all-cause mortality,strongly supporting the annual routine determination of these biomarkers.

Objective To analyze the application value of the rapid testing for influenza during 2007-2008 flu season at fever clinic in Beijing Chaoyang hospital Methods 500 patients with diagnosis of influenza-like illness were prospectively enrolled. Pharyngeal swabs were collected for influenza viral culture and rapid testing for influenza. Demographic characteristics, age, symptoms, lab tests, symptom recovery time and medical expense were also collected. The sensitivity, specificity, positive predictive value and negative predictive value for rapid testing were analyzed. Results A total of 500 patients were enrolled between Dec 2007 and March 2008. Among them 498 cases were used for analysis. Influenza B was most common by virus culture methed(n=208,41.8%) ,followed by influenza A (n=51,10.2%). The average age was 35, and the ratio of male to female was 1.47:1. Compared with the group of positive culture, patients with influenza were more likely to get cough, sore throat, and nasal congestion (t=13.728, 4.014and 4.720,P<0.001 or 0.05, respectively). A total of 260 cases were subjected to rapid testing, Among them 18 cases were influenza A positive and 132 cases were influenza B positive. The rapid testing had a sensitivity of 77.1 % and a specificity of 70.1%. The positive predictive value was 78.6% and the negative predictive value was 68.2%. The rapid testing had enhanced the proportion of anti-viral treatment from 0 to 26% and reduced the proportion of antibiotic use from 63.4% to 20. 7%. Conclusions Influenza B is the most predominant pathogen during 2007-2008 flu season among patients with influenza-like illness in Beijing. The rapid testing with high sensitivity and specificity provides guidance on clinical practice.

Objective The study estabfished a model to pre-dict the weekly incidence of bacillary dysentery in Chaoyang District,and evaluated its predictive effects. Methods To eliminate the factors of sea-son-changing by means of Time Series. Auto regressive integrated moving average(ARIMA), based on model identification, estimation andverifica-tion of parameter, and analysis of the fitting of model, was established. Fi-nally,the predictive model was established by the multiple of ARLMA and seasonal factors. Results The error of the model for the prediction was -0.06 on average. The relative error was 2.32% on average. Conclusion Time series could not only accurately predict useing the data which was collected every week,but shorten the cycle of prediction.