OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the identification of numerical and structural chromosomal abnormalities and copy number variations (CNVs) in fetuses. METHODS: 46 197 pregnant women undergoing NIPT at the Prenatal Diagnosis Center of Chenzhou First People's Hospital from January 2018 to December 2021 were selected as the study subjects. Positive cases were subjected to chromosomal karyotyping and copy number variation sequencing (CNV-seq) following amniocentesis. RESULTS: Nearly 50% of common chromosomal aneuploidies were found in the elder pregnant women. Among these, sex chromosome aneuploidies were mainly found in pregnant women with advanced age as well as borderline risks by serological screening. Rare autosomal aneuploidies and CNVs were mainly found in those with borderline or high risks by serological screening. The positive predictive values (PPV) for fetal chromosomal abnormalities indicated by NIPT were as follows: T21 (92.37%, 109/118), T18 (53.85%, 14/26), sex chromosome aneuploidies (45.04%, 59/131), T13 (34.62%, 9/26), CNVs (29.17%, 14/48), and rare autosomal aneuploidies (2.60%, 2/77). CONCLUSION NIPT has a high detection rate for T21, T18, T13 and sex chromosome aneuploidies. It can also detect rare autosomal aneuploidies and CNVs, including some rare structural abnormalities, though verification is required by analyzing amniotic fluid samples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Chromosome Aberrations ; Chromosome Disorders/genetics* ; Aneuploidy ; Fetus

Objective:To investigate the diagnostic accuracy of serological indicators and evaluate the diagnostic value of a new established combined serological model on identifying the minimal hepatic encephalopathy (MHE) in patients with compensated cirrhosis.Methods:This prospective multicenter study enrolled 263 compensated cirrhotic patients from 23 hospitals in 15 provinces, autonomous regions and municipalities of China between October 2021 and August 2022. Clinical data and laboratory test results were collected, and the model for end-stage liver disease (MELD) score was calculated. Ammonia level was corrected to the upper limit of normal (AMM-ULN) by the baseline blood ammonia measurements/upper limit of the normal reference value. MHE was diagnosed by combined abnormal number connection test-A and abnormal digit symbol test as suggested by Guidelines on the management of hepatic encephalopathy in cirrhosis. The patients were randomly divided (7∶3) into training set ( n=185) and validation set ( n=78) based on caret package of R language. Logistic regression was used to establish a combined model of MHE diagnosis. The diagnostic performance was evaluated by the area under the curve (AUC) of receiver operating characteristic curve, Hosmer-Lemeshow test and calibration curve. The internal verification was carried out by the Bootstrap method ( n=200). AUC comparisons were achieved using the Delong test. Results:In the training set, prevalence of MHE was 37.8% (70/185). There were statistically significant differences in AMM-ULN, albumin, platelet, alkaline phosphatase, international normalized ratio, MELD score and education between non-MHE group and MHE group (all P<0.05). Multivariate Logistic regression analysis showed that AMM-ULN [odds ratio ( OR)=1.78, 95% confidence interval ( CI) 1.05-3.14, P=0.038] and MELD score ( OR=1.11, 95% CI 1.04-1.20, P=0.002) were independent risk factors for MHE, and the AUC for predicting MHE were 0.663, 0.625, respectively. Compared with the use of blood AMM-ULN and MELD score alone, the AUC of the combined model of AMM-ULN, MELD score and education exhibited better predictive performance in determining the presence of MHE was 0.755, the specificity and sensitivity was 85.2% and 55.7%, respectively. Hosmer-Lemeshow test and calibration curve showed that the model had good calibration ( P=0.733). The AUC for internal validation of the combined model for diagnosing MHE was 0.752. In the validation set, the AUC of the combined model for diagnosing MHE was 0.794, and Hosmer-Lemeshow test showed good calibration ( P=0.841). Conclusion:Use of the combined model including AMM-ULN, MELD score and education could improve the predictive efficiency of MHE among patients with compensated cirrhosis.

Objective:To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test.Methods:This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ2 test. A kappa test was used to compare the consistency between groups. Results:After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea ( Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences ( P < 0.001). Conclusion:The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.

Objective:To explore the research hotspots and trends of trauma informed care based on the Web of Science Core Collection, so as to provide reference for future research in China.Methods:Articles related to trauma informed care was searched on the Web of Science Core Collection from February 1, 2002 to February 1, 2022. Article duplication, screening, and data extraction were performed in EndNote X9. CiteSpace 5.0 R1 software was used for visual analysis.Results:A total of 510 articles were included. Since 2021, there had been a sharp increase in the number of articles, with the largest number of published articles in the United States. The overall collaboration between authors was not close, with 10 of the most productive authors, and a core author group was not formed. The top 10 research institutions were affiliated with universities. Published journals, disciplines, and keywords focused on the psychology, children, adolescents, psychiatry, women, violence, and public health services, and were developing towards a wide range of population.Conclusions:Research on trauma informed care currently focuses on the application of service objects in mental and psychological service environments, as well as the personnel training and development of measurement tools. With the deepening of research, trauma informed care for other sub healthy populations will be a research hotspot.

OBJECTIVE: To carry out clinical and genetic analysis for an infant manifesting perianal lesions, diarrhea and multiple intestinal perforations. METHODS: Genomic DNA of the infant was extracted and subjected to targeted capture exome sequencing. Candidate variants were verified by Sanger sequencing of his family members. RESULTS: The patient was found to harbor c.301C>T and c.188+1G>A compound heterozygous variants of the IL10RA gene, which has suggested the diagnosis of IL10RA-related very early-onset inflammatory bowel disease (VEOIBD). CONCLUSION The patient was diagnosed with IL10RA-related VEOIBD. The newly discovered c.188+1G>A variant has enriched the spectrum of IL10RA gene variations.
Genetic Testing ; Humans ; Infant ; Inflammatory Bowel Diseases/pathology* ; Mutation ; Exome Sequencing

Background::To date, there is no effective medicine to treat coronavirus disease 2019 (COVID-19), and the antiviral efficacy of arbidol in the treatment for COVID-19 remained equivocal and controversial. The purpose of this study was to evaluate the efficacy and safety of arbidol tablets in the treatment of COVID-19.Methods::This was a prospective, open-label, controlled and multicenter investigator-initiated trial involving adult patients with confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Patients were stratified 1:2 to either standard-of-care (SOC) or SOC plus arbidol tablets (oral administration of 200 mg per time, three times a day for 14 days). The primary endpoint was negative conversion of SARS-CoV-2 within the first week. The rates and 95% confidential intervals were calculated for each variable.Results::A total of 99 patients with laboratory-confirmed SARS-CoV-2 infection were enrolled; 66 were assigned to the SOC plus arbidol tablets group, and 33 to the SOC group. The negative conversion rate of SARS-CoV-2 within the first week in patients receiving arbidol tablets was significantly higher than that of the SOC group (70.3% [45/64] vs. 42.4% [14/33]; difference of conversion rate 27.9%; 95% confidence interval [CI], 7.7%-48.1%; P = 0.008). Compared to those in the SOC group, patients receiving arbidol tablets had a shorter duration of clinical recovery (median 7.0 days vs. 12.0 days; hazard ratio [HR]: 1.877, 95% CI: 1.151-3.060, P = 0.006), symptom of fever (median 3.0 days vs. 12.0 days; HR: 18.990, 95% CI: 5.350-67.410, P < 0.001), as well as hospitalization (median 12.5 days vs. 20.0 days; P < 0.001). Moreover, the addition of arbidol tablets to SOC led to more rapid normalization of declined blood lymphocytes (median 10.0 days vs. 14.5 days; P > 0.05). The most common adverse event in the arbidol tablets group was the elevation of transaminase (5/200, 2.5%), and no one withdrew from the study due to adverse events or disease progression. Conclusions::SOC plus arbidol tablets significantly increase the negative conversion rate of SARS-CoV-2 within the first week and accelerate the recovery of COVID-19 patients. During the treatment with arbidol tablets, we find no significant serious adverse events.Trial registration::Chinese Clinical Trial Registry, NCT04260594, www.clinicaltrials.gov/ct2/show/NCT04260594?term= NCT04260594&draw=2&rank=1

Objective:To investigate the relationship between serum lipid levels and the risk of pulmonary embolism in patients with non-valvular atrial fibrillation.Methods:Patients with non-valvular atrial fibrillation admitted to Tianjin Chest Hospital from January 2014 to January 2019 were retrospectively analyzed.According to whether pulmonary embolism was present on CT pulmonary angiography, patients were divided into two groups, the atrial fibrillation with pulmonary embolism group(the AP group)and the control group(the AF group). Clinical data and serum lipid test results were compared between the two groups.The relationship between serum lipid levels and the risk of pulmonary embolism was evaluated.Results:Levels of apolipoprotein A1(ApoA1)and high-density lipoprotein cholesterol(HDL-C)in the AP group were(1.09±0.25)g/L and(1.03±0.28)mmol/L, which were lower than those in the AF group(1.24±0.25)g/L and(1.21±0.37)mmol/L)( t=3.255, P=0.002; t=2.972, P=0.004, respectively). Levels of very low-density lipoprotein cholesterol(VLDL-C)in the AP group were(0.41±0.24)mmol/L, which were higher than those in the AF group(0.26±0.18)mmol/L)( t=-3.761, P=0.000). The grade of cardiac function on admission in the AP group was higher than that in the AF group( χ2=13.074, P=0.004). The proportion of patients treated for atrial fibrillation in the AP group was lower than that in the AF group( χ2=5.445, P=0.020). Logistic regression analysis showed that decreased ApoA1 and left cardiac insufficiency were risk factors for pulmonary embolism in patients with non-valvular atrial fibrillation( OR=8.793, 95% CI: 1.815~42.607, P=0.007; OR=4.388, 95% CI: 1.352~14.244, P=0.014, respectively). Decreased VLDL-C and atrial fibrillation therapy were protective factors for pulmonary embolism( OR=0.180, 95% CI: 0.053~0.610, P=0.006; OR=0.268, 95% CI: 0.072~0.992, P=0.049, respectively). Conclusions:Pulmonary embolism in patients with non-valvular atrial fibrillation is related to serum lipid levels.Regulating levels of serum lipids may reduce the risk of pulmonary embolism in patients with non-valvular atrial fibrillation.

Objective: To explore the role of D-dimer level in patients with acute exacerbation of chronic obstructive disease (AECOPD) in predicting the re-admission of patients. Methods: One hundred and twenty chronic obstructive pulmonary disease (COPD) patients in the Shanghai General Hospital of Shanghai Jiao Tong University form January 2016 to December 2018 were divided into AECOPD group (62 cases) and stable COPD group (58 cases).The level of serum D-dimer was analyzed and Pearson correlation analysis was performed with the patient′s blood gas analysis and COPD assessment test (CAT) score. The area under the receiver operating characteristic (ROC) curve was used to evaluate the predictive value of serum D-dimer level for readmission. Results: Serum D-dimer level was significantly higher in AECOPD group than that in stable group: (1.24 ± 0.56) mg/L vs. (0.39 ± 0.22) mg/L, and there was statistical difference (P<0.01). Serum D-dimer level was negatively correlated with PaO₂ in COPD patients (r = 0.712, P = 0.000), but positively correlated with PaCO₂ (r = 0.683, P = 0.000) and CAT score (r = 0.652, P = 0.000). The area under the ROC curve of D-dimer level to re-admission of COPD patients within one year was 0.848. The cutoff value was 1.015 mg/L. Conclusions The level of D-dimer in COPD patients is of great value in predicting the re-admission of patients, which can be used as an independent indicator of disease progression.

We reported a case of monochorionic monoamniotic twins discordant for anencephaly diagnosed by second-trimester ultrasonography at the First Affiliated Hospital of Fujian Medical University.Ultrasound at seven weeks of gestation showed only one gestational sac with an embryo inside.Another 12 gestational weeks' ultrasound scan performed at another hospital found one gestational sac and one fetus (crown-rump length was 6.11 cm and nuchal translucency was 0.11 cm) in the upper-middle uterine cavity.The ultrasound examination at 22+6 gestational weeks identified one placenta and two fetuses without obvious diaphragm echo in between.Although no structural abnormality was observed in one fetus,frog-like eyes,absence of skull image and brain tissue echo were presented in the other fetus.The patient was transferred to a higher level hospital and was successfully performed radiofrequency ablation for selective reduction at 23+4 weeks of gestation.At 35 weeks,a premature live boy and an anencephalic stillbirth fetus were born vaginally after premature rupture of membranes.The baby boy was healthy at follow-up at four months old.

Objective: To analyze the mental health status and its impact factors among nurses, finding ways to improve the mental health of nurses. Methods: A total of 13 425 female healthcare workers aged from 18 to 65 were selected as study objects. The survey was conducted with unified design questionnaire. The survey included the basic situation of the individuals and SCL-90 questionnaire. Comparing the female doctors, the mental health status and its impact factors of nurses were analyzed. Results: The income, age, education and occupation, which include shift work, heavy work load and overtime work are different between nurses and doctors. The main mental health problems of nurses were obsessive-compulsive symptoms, depressive symptoms and somatization. The results of univariate analysis indicated that shift work, overtime work, and heavy work load affected the positive rate of each factor. The results of multivariate analysis showed that occupation, shift work, overtime work, and heavy work load have significant adverse effects on the positive rate of the total score in female healthcare workers (P<0.01) . The positive rate of each dimension of SCL-90 in nurses is significantly higher than that of doctors. Conclusion The mental health problems of nurses are significantly higher than doctors. The main reasons are low occupational level and adverse workstyles which include shift work, heavy workload and so on. Health administration and hospital management departments should pay much more attention to the mental health of nurses, improving their mental health through a variety of ways.