OBJECTIVES: To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region. METHODS: A prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up. RESULTS: Among the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05). CONCLUSIONS gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
Humans ; Infant, Newborn ; Neonatal Screening ; Genetic Testing ; Female ; Male ; Follow-Up Studies ; Prospective Studies ; China

OBJECTIVE: By analyzing the differential miRNA in seminal plasma between individuals with normal and abnormal sperm DNA fragmentation index（DFI）, we aim to identify miRNA that may impact sperm DNA integrity and target genes, and attempt to analyze their potential mechanisms of action. METHODS: A total of 161 study subjects were collected and divided into normal control group, DFI-medium group and DFI-abnormal group based on the DFI detection values. Differential miRNA were identified through miRNA chip analysis. Through bioinformatics analysis and target gene prediction, miRNA related to DFI and specific target genes were identified. The relative expression levels of differential miRNA and target genes in each group were compared to explore the impact of their differential expression on DFI. RESULTS: Through miRNA chip analysis, a total of 11 differential miRNA were detected. Bioinformatics analysis suggested that miR-26a-5p may be associated with reduced sperm DNA integrity. And gene prediction indicated that PTEN was a specific target gene of miR-26a-5p. Compared to the normal control group, the relative expression levels of miR-26a-5p in both the DFI-medium group and the DFI-abnormal group showed a decrease, while the relative expression levels of PTEN showed an increase. The relative expression levels of miR-26a-5p in all groups were negatively correlated with DFI values, while the relative expression levels of PTEN showed a positive correlation with DFI values in the DFI-medium group and the DFI-abnormal group. The AUC of miR-26a-5p in the DFI-medium group was 0.740 (P<0.05), with a sensitivity of 73.6% and a specificity of 71.5%; the AUC of PTEN was 0.797 (P<0.05), with a sensitivity of 76.5% and a specificity of 78.4%. In the DFI-abnormal group, the AUC of miR-26a-5p was 0.848 (P<0.05), with a sensitivity of 81.3% and a specificity of 78.1%. While the AUC of PTEN was 0.763 (P<0.05), with a sensitivity of 77.2% and a specificity of 80.2%. CONCLUSION miR-26a-5p affects the integrity of sperm DNA by regulating the expression of PTEN negatively. The relative expression levels of seminal plasma miR-26a-5p and PTEN have good diagnostic value for sperm DNA integrity damage, which can help in the etiological diagnosis and prognosis analysis of abnormal DFI. This provides a diagnostic and treatment approach for the study and diagnosis of DFI abnormalities without clear etiology.
Male ; Humans ; MicroRNAs/genetics* ; PTEN Phosphohydrolase/genetics* ; Spermatozoa ; Semen/metabolism* ; DNA Fragmentation

ObjectiveTo investigate the status of liver function abnormalities in patients with severe mental disorder (SMD) in Shanghai community, to explore the related factors to abnormal liver function in patients with SMD, and to analyze the effects of the types of mental disorders and medication status on liver function abnormalities. MethodsThe patients with SMD in Jinshan District, Minhang District, Hongkou District and Xuhui District of Shanghai were selected as the research subjects. Questionnaire survey, physical examination and laboratory tests were conducted to obtain their demographic characteristics and liver function indicators such as alanine aminotransferase (ALT) and total bilirubin (TBil). The types of mental disorders and medication status of patients in Jinshan District were also investigated. Abnormalities in liver function were determined by abnormalities in either ALT or TBil. Binary logistic regression analysis was used for multivariate analysis of the status of abnormal liver function, and the effects of mental disorder types and medication status on liver function were analyzed, simultaneously. ResultsA total of 7 251 patients with SMD were finally included into this study, and the rate of liver function abnormality was 22.7%, of which 694 cases (9.6%) had ALT abnormality and 1 084 cases (14.9%) had TBil abnormality. Univariate analysis showed that the rate of liver function abnormalities was higher in males than that in females (χ²=45.026, P<0.001), higher in suburbs than that in urban areas (χ²=25.317, P<0.001), higher in those with higher BMI than in those with lower BMI (χ²=63.748, P<0.001), higher in those with elevated blood pressure (BP) than in those without elevated BP (χ²=24.774, P<0.001), higher in those with elevated blood glucose than in those without elevated blood glucose (χ²=43.345, P<0.001), higher in those with abnormal triglyceride (TG) than in those with normal TG (χ²=15.551,P<0.001), and higher in those with abnormal total cholesterol (TC) than in those with normal TC (χ²=10.962, P=0.001). Multivariate analysis showed that the rate of abnormal liver function was higher in males than that in females (OR=1.53, 95%CI: 1.36‒1.73), higher in suburbs than that in urban areas (OR=1.43, 95%CI: 1.21‒1.70), higher in those with overweight than in those with normal BMI (OR=1.16, 95%CI: 1.01‒1.33), higher in those with obesity than in those with those with normal BMI (OR=1.61, 95%CI: 1.36‒1.91), higher in those with elevated blood glucose than in those without elevated blood glucose (OR=1.39, 95%CI: 1.23‒1.58), and higher in those with abnormal TC than in those with normal TC (OR=1.36, 95%CI: 1.13‒1.65).The difference in the rate of ALT abnormalities among the SMD patients in Jinshan District with different medication status was statistically significant (χ²=21.928, P<0.001). Whereas, the differences in the effects of the types of mental disorders and medication status on the status of liver function abnormalities were not statistically significant(P>0.05). ConclusionThe detection rate of liver function abnormalities in community-based SMD patients in Shanghai is high, and male, suburban, and accompanied by elevated BMI, BP, blood glucose, and TC are risk factors for liver function abnormalities in patients with SMD. Primary healthcare providers should pay more attention to the liver function of patients with SMD and initiate targeted and tailored prevention, detection and treatment measures.

Objective:To assess the association between body mass index (BMI) and major adverse cardiovascular and cerebrovascular events (MACCE) among patients with acute coronary syndrome (ACS).Methods:This was a multicenter prospective cohort study, which was based on the Improving Care for Cardiovascular Disease in China (CCC) project. The hospitalized patients with ACS aged between 18 and 80 years, registered in CCC project from November 1, 2014 to December 31, 2019 were included. The included patients were categorized into four groups based on their BMI at the time of admission: underweight (BMI<18.5 kg/m 2), normal weight (BMI between 18.5 and 24.9 kg/m 2), overweight (BMI between 25.0 and 29.9 kg/m 2), and obese (BMI≥30.0 kg/m 2). Multivariate logistic regression models was used to analyze the relationship between BMI and the risk of in-hospital MACCE. Results:A total of 71 681 ACS inpatients were included in the study. The age was (63.4±14.7) years, and 26.5% (18 979/71 681) were female. And the incidence of MACCE for the underweight, normal weight, overweight, and obese groups were 14.9% (322/2 154), 9.5% (3 997/41 960), 7.9% (1 908/24 140) and 7.0% (240/3 427), respectively ( P<0.001). Multivariate logistic regression analysis showed a higher incidence of MACCE in the underweight group compared to the normal weight group ( OR=1.30, 95% CI 1.13-1.49, P<0.001), while the overweight and obese groups exhibited no statistically significant difference in the incidence of MACCE compared to the normal weight group (both P>0.05). Conclusion:ACS patients with BMI below normal have a higher risk of in-hospital MACCE, suggesting that BMI may be an indicator for evaluating short-term prognosis in ACS patients.

Objective:To observe the changes in the nutritional status of pediatric patients after allogeneic hematopoietic stem cell transplantation(allo-HSCT)for one year,and to analyze the risk factors.Methods:We collected data from 88 pediatric patients who underwent allo-HSCT at the Department of Hematology and Oncology in Children's Hospital of Nanjing Medical University between May 2018 and November 2022.All pediatric patients underwent nutritional status analysis before transplantation,at enrollment,3 months,6 months and 1 year after allo-HSCT.Linear regression model was used to analyze the risk factors for growth rate.Results:The body mass index Z score(BMI-Z)before allo-HSCT was(0.096±1.349),and decreased to(-0.258±1.438)、(-0.715±1.432)、(-0.584±1.444)at enrollment,3 months,6 months after allo-HSCT,and(-0.130±1.317)at 1 year after allo-HSCT(P<0.001).There was no significant change in BMI-Z between pre-transplantation and 1 year after transplantation(P=1.000).Height for age Z score(HAZ)before transplantation was(0.137±1.305)and decreased to(-0.083±1.267)、(-0.221±1.299)、(-0.269±1.282)in 3 months,6 months and 1 year after allo-HSCT(P<0.001).Multivariate linear regression showed that age≥10 years old(P=0.015)and chronic graft-versus-host disease(cGVHD)(P=0.005)were independent risk factors for change in HAZ.Conclusion:The BMI-Z of pediatric patients treated with allo-HSCT returned to the pre-transplantation level after one year,while HAZ continued to decrease.Allo-HSCT may cause impaired growth rate in pediatric patients.Attention should be paid to HAZ changes in pediatric patients before and after allo-HSCT,especially in pediatric patients≥10 years old of age and those with cGVHD.Effective nutritional intervention should be provided in time.

Objective:To investigate the influences of blood pressure fluctuation and biochemical parameters in early cognitive impairment in patients with basal ganglia hypertensive intracerebral hemorrhage (HICH).Methods:A total of 148 patients with basal ganglia HICH, admitted to Department of Neurosurgery, Second Affiliated Hospital of Soochow University from January 2022 to January 2024 were enrolled. Four weeks after onset, these patients accepted Montreal cognitive assessment (MoCA) and were divided into cognitive impairment group (MoCA scores<26, n=62) and non-cognitive impairment group (MoCA scores≥26, n=86) accordingly. Clinical data and average blood pressure on 7 consecutive d (since admission) were collected, and differences of clinical data, mean systolic blood pressure (MSBP), mean diastolic blood pressure (MDBP), and long-term blood pressure variability indexes were compared between the two groups. Multivariate Logistic regression analysis was used to screen the independent influencing factors for cognitive impairment; spearman rank correlation was used to analyze the correlation between independent influencing factors and MoCA score; and receiver operating characteristic (ROC) curve was used to analyze the diagnostic value of independent influencing factors in cognitive impairment. Results:Compared with the non-cognitive impairment group, the cognitive impairment group had significantly longer hypertension duration, statistically higher interleukin-6 (IL-6), MSBP, MDBP and 7 d-duration standard deviation of systolic blood pressure (7dSSD), and significantly lower albumin ( P<0.05). Multivariate Logistic regression analysis showed that hypertension duration ( OR=1.258, 95% CI: 1.134-1.396, P<0.001), MSBP ( OR=1.770, 95% CI: 1.267-2.473, P=0.001), 7dSSD ( OR=1.139, 95% CI: 1.038-1.249, P=0.006), and IL-6 ( OR=1.156, 95% CI: 1.076-1.241, P<0.001) were independent influencing factors for early cognitive impairment in patients with basal ganglia HICH. Spearman rank correlation showed that hypertension duration, MSBP, 7DSSD, and IL-6 were negatively correlated with MoCA score ( rs=-0.271, P=0.001; rs=-0.493, P<0.001; rs=-0.264, P=0.001; rs=-0.412, P<0.001). Area under ROC curve of combined use of MSBP, 7dSSD, hypertension duration and IL-6 in diagnosing early cognitive impairment was 0.932, with sensitivity of 0.855 and specificity of 0.895. Conclusion:MSBP, 7dSSD, hypertension duration and IL-6 might be hemodynamic and serological monitoring indexes for predicting early cognitive impairment in patients with basal ganglia HICH.

Heart failure(HF)is the end stage of almost all cardiovascular diseases,including coronary heart disease and structural heart disease.For end-stage HF,medications and cardiac assist devices have limited therapeutic effects,and heart transplantation is associated with donor shortage and immune rejection.Alginate hydrogel has the ability to mechanically support and induce cardiac tissue regeneration and repair.In March 2021,we conducted the world's first transcatheter endocardial alginate-hydrogel implantation in patients with end-stage heart failure,and explored the safety and feasibility of the treatment.Given that patients with heart failure who had undergone cardiac resynchronization therapy defibrillator(CRT-D)were excluded from previous studies,this paper is the first to report a case of transcatheter endocardial alginate-hydrogel implantation in a patient with heart failure who did not respond to CRT-D,with a significant reduction in the number of visits to the doctor and a significant improvement in the quality of life during the post-procedure follow-up,which may expand the indications for the use of this technology.

Objective To evaluate the efficacy of extracorporeal membrane oxygenation(ECMO)in patients with reduced left ventricular ejection fraction(LVEF)undergoing transcatheter aortic valve implantation(TAVR).Methods This was a single-center,retrospective study enrolling a total of 30 patients with reduced LVEF undergoing TAVR from January 2020 to January 2024.Of these,12 patients underwent TAVR with ECMO.Baseline clinical characteristics,preprocedural echocardiographic and computed tomographic(CT)measurements,TAVR procedural details,and follow-up data at 60-day and 6-month were collected.Results Among the 30 patients,there were 20 males with an average age of(67.0±10.4)years,an average STS score of(8.2±1.8)points,and an average LVEF of(21.2±5.3)％.This study included 11 AR patients,all of whom were in the group without ECMO implantation,and the difference between the two groups was statistically significant(P=0.027).During the operation,there were 0 cases of circulatory collapse in the ECMO group,and 5 cases(5/18)of circulatory collapse in the non ECMO group.All 5 patients underwent emergency ECMO placement.There were statistically significant differences(P＜0.05)in the comparison of two groups with circulatory collapse and salvage ECMO implantation.The technical success rate of 30 patients was 76.7％(23/30),and the instrument success rate was 60.0％(18/30).Among them,the technical success rate and instrument success rate of the ECMO group were higher than those of the non ECMO group,but the differences were not statistically significant(both P＞0.05).During a 30 day follow-up,there were 0 all-cause deaths in the ECMO group and 9 all-cause deaths(9/18)in the non ECMO group.Among them,7 cases(7/18)died from cardiovascular causes.The differences in all-cause and cardiovascular cause deaths between the two groups were statistically significant(both P＜0.05).During a 6-month follow-up,one patient with ECMO died due to extensive cerebral infarction.The all-cause mortality rate during the 6-month follow-up was 1/12(8.3％),while the all-cause mortality rate without ECMO was 9/18(5.0％).The difference between the two groups was statistically significant(P=0.024).The incidence of stroke with ECMO was 1/12(8.3％),while without ECMO it was 0.There was no statistically significant difference between the two groups(P=0.978).Conclusions In patients with reduced LVEF undergoing TAVR,periprocedural ECMO support does seem to improve patient outcome.

Objective To explore the clinical characteristics of pediatric patients with cerebral palsy(CP)who also have comorbid epilepsy.Methods A retrospective analysis was conducted on the clinical data of 155 pediatric patients with CP and comorbid epilepsy admitted to the Third Affiliated Hospital of Zhengzhou University from January 2019 to December 2022.Patients were divided into 4 groups based on CP subtype:spastic diplegia group(n=29),spastic hemiplegia group(n=33),spastic quadriplegia group(n=73),and non-spastic group(n=20).Differences in sex,season of birth,birth weight,gestational age,and the relationship between gestational age and weight were compared among the groups.Additionally,the relationships between perinatal risk factors,MRI classification system(MRICS),gross motor function classification system(GMFCS),and the age of the first onset of epilepsy with respect to CP subtype were analyzed.Results Among the 155 patients,101 were male and 54 were female.A lower proportion of patients with spastic hemiplegia was observed with a gestational age of 28-31+6 weeks compared with those with spastic diplegia and spastic quadriplegia(P=0.009).The proportion of patients with a history of asphyxia in spastic hemiplegia group was significantly lower than that in the other 3 groups,and the proportion of patients with hypoxic-ischemic encephalopathy(HIE)in spastic hemiplegia group was significantly lower than in that both spastic quadriplegia group and non-spastic group(P<0.05).The proportion of patients in spastic quadriplegia group who had their first seizure at an age of<1 year was significantly higher than that in spastic diplegic group(P=0.041).The spastic diplegia group exhibited a higher percentage of white matter damage compared with the other 3 groups,and had a lower percentage of gray matter damage compared with both spastic hemiplegic group and non-spastic group(P=0.001).The proportion of patients with GMFCS levels Ⅳ-Ⅴ in spastic quadriplegia group was higher than those in the other 3 groups(P<0.001),and the proportion of patients with levels Ⅰ-Ⅲ in spastic hemiplegia group was significantly higher than those in spastic quadriplegia group and non-spastic group(P<0.001).Conclusion Significant differences were observed among pediatric patients with different subtypes of CP and comorbid epilepsy in factors such as gestational age,history of asphyxia,HIE history,age of first seizure,MRICS classification and GMFCS levels.

Objective To explore the application of patient empowerment in early rehabilitation training for patients with lower extremity deep vein thrombosis(DVT)after receiving catheter-directed thrombolysis(CDT).Methods A total of 110 patients with lower extremity DVT,who were scheduled for CDT therapy,were enrolled in this study.Using random digital table method,the patients were divided into control group(n=55)and intervention group(n=55).Routine rehabilitation activities were implemented for patients of the control group,while patient empowerment-based early rehabilitation training program was carried out for patients of the intervention group.The compliance to rehabilitation exercise,difference of upper/lower patella leg circumference,incidence of complications,duration of catheterization and thrombolysis,and length of hospital stay in both groups were calculated.The Self-Efficacy for Managing Chronic Disease,Chinese version of the Readiness for Hospital Discharge Scale,and the VEnous INsufficiency Epidemiological and Economic Study(VEINES)Quality of Life scale were used to evaluate the rehabilitation results of the patients of two groups.Results There were no significant differences in the duration of catheterization and thrombolysis,incidence of complications,and length of hospital stay between the two groups(all P＞0.05).At the time of discharge,the difference of upper/lower patella leg circumference in the intervention group was remarkably smaller than that in the control group,and the compliance with rehabilitation exercise,the self-efficacy,the readiness for discharge,and the quality of life in 3 months after discharge in the intervention group were strikingly better than those in the control group(all P＜0.05).Conclusion The implementation of patient empowerment in early rehabilitation training for patients with lower extremity DVT after receiving CDT therapy can improve the compliance with rehabilitation exercise,self-efficacy,limb swelling,readiness for discharge,and quality of life after discharge from hospital.(J Intervent Radiol,2024,33:554-559)