OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

Objective To investigate the antibody levels of measles, rubella and mumps among healthy residents in Fengtai District, Beijing, and to provide reference for further improving the level of immunization coverage.Methods A total of 242 healthy people who had continuously resided in Fengtai District for more than six months were randomly selected. Blood samples were collected for quantitative detection of IgG antibodies against measles, rubella and mumps by indirect ELISA.Results Among the 242 people surveyed, the positive rates of measles, rubella and mumps antibodies were 76. 45%, 89. 67%and 75. 62%, and the geometric mean concentrations(GMCs) were 739. 97 IU/L, 35. 87 IU/mL and 43. 01 RU/mL,respectively. There was no significant difference in the positive rates of measles, rubella, and mumps antibodies between males and females(χ~2= 0. 659, 0. 173 and 0. 046, respectively, P > 0. 05). There was no significant difference in the positive rates of measles, rubella, and mumps antibodies between this city and floating household registrations(χ~2= 1. 859, 0. 045 and 1. 098, respectively, P > 0. 05). However, the positive rates of measles, rubella, and mumps antibodies between different age groups were statistically significantly different(χ~2= 31. 324, χ~2_(fisher)= 28. 650, χ~2= 24. 817, P < 0. 05), and the positive rates of three antibodies were statistically significantly different among different immunization times(χ~2= 14. 315, χ~2_(fisher)=21. 766, χ~2= 17. 764, P < 0. 05).Conclusion The levels of measles, rubella and mumps antibodies among healthy individuals in Fengtai District remain to be further enhanced. In the future, routine vaccination services should be continuously strengthened, and women of childbearing age should be advocated to receive measles-mumps-rubella vaccine, so as to further enhance the level of immunization coverage.

Objective To investigate whether microRNA-21-5p(miR-21)plays a protective role in hyperoxia-induced acute lung injury(HALI)by regulating ferroptosis through the STAT3/P53/SLC7A11 axis.Methods The interaction between STAT3 and P53 was analyzed by co-immunoprecipitation(Co-IP).Fifty 9-week-old male C57BL/6J mice were randomly divided into normoxia(Control)group,HALI group,miR-21 overexpression(miR-21)group,STAT3 inhibitor(HY-13818)group,and ferrostatin-1(Fer-1)group.After the mice from the miR-21 group received miR-21-5p AAV6 or empty vector via tracheal catheter instillation,the animals were then monitored for 3 weeks.The HY-13818 group was intraperitoneally injected with HY-13818(10 mg/kg)3 times weekly for 2 weeks.The Fer-1 group received 0.8 mg/kg ferrostatin-1 via tail vein injection once daily for 2 consecutive days during modeling.The HALI model was established by exposure to>90%oxygen.After 48 h of hyperoxia,blood samples were collected via orbital sampling for RT-PCR analysis of miR-21 expression.Lung tissues were harvested for wet/dry weight ratio and assessment of histopathological changes via HE staining for lung injury score.Activity of superoxide dismutase(SOD)and contents of malondialdehyde(MDA),Fe2?,glutathione(GSH),and reactive oxygen species(ROS)were measured using photocolorimetry,spectrophotometry and fluorometry.Western blotting was used to evaluate the protein expression of STAT3,P53,SLC7A11,and GPX4.Results The results of Co-IP showed that STAT3 could bind to P53.The HALI group exhibited obviously destroyed alveolar structure,disordered arrangement,thickened interval,with a large number of infiltrated neutrophils and collapsed alveoli,and had significantly increased pathological score of lung injury and ratio of lung Wwet/Ddry weight when compared with the Control group(P<0.05).In the miR-21 group,HY-13818 group and Fer-1 group,the severity of lung injury was significantly reduced,and the pathological score of lung injury and the ratio of Wwet/Ddry weight were decreased(P<0.05)when compared with the HALI group.Compared with the control group,the contents of MDA,Fe2+and ROS were increased(P<0.05),the activity of SOD and content of GSH were declined(P<0.05),the protein levels of STAT3 and P53 were increased(P<0.05),and those of SLC7A11 and GPX4 were decreased(P<0.05)in the HALI group.Compared with the HALI group,decreased MDA and ROS levels(P<0.05),enhanced SOD activity,Fe2+and GSH levels(P<0.05),down-regulation of STAT3 and P53(P<0.05)and up-regulation of SLC7A11 and GPX4(P<0.05)were observed in the miR-21 group and HY-13818 group.Conclusion MiR-21 alleviates HALI,which may be related to its inhibition of ferroptosis through the STAT3/P53/SLC7A11 axis.

Mycophenolic acid (MPA), the active moiety of both mycophenolate mofetil (MMF) and enteric-coated mycophenolate sodium (EC-MPS), serves as a primary immunosuppressant for maintaining solid organ transplants. Therapeutic drug monitoring (TDM) enhances treatment outcomes through tailored approaches. This study aimed to develop an evidence-based guideline for MPA TDM, facilitating its rational application in clinical settings. The guideline plan was drawn from the Institute of Medicine and World Health Organization (WHO) guidelines. Using the Delphi method, clinical questions and outcome indicators were generated. Systematic reviews, Grading of Recommendations Assessment, Development, and Evaluation (GRADE) evidence quality evaluations, expert opinions, and patient values guided evidence-based suggestions for the guideline. External reviews further refined the recommendations. The guideline for the TDM of MPA (IPGRP-2020CN099) consists of four sections and 16 recommendations encompassing target populations, monitoring strategies, dosage regimens, and influencing factors. High-risk populations, timing of TDM, area under the curve (AUC) versus trough concentration (C₀), target concentration ranges, monitoring frequency, and analytical methods are addressed. Formulation-specific recommendations, initial dosage regimens, populations with unique considerations, pharmacokinetic-informed dosing, body weight factors, pharmacogenetics, and drug‍-‍drug interactions are covered. The evidence-based guideline offers a comprehensive recommendation for solid organ transplant recipients undergoing MPA therapy, promoting standardization of MPA TDM, and enhancing treatment efficacy and safety.
Mycophenolic Acid/administration & dosage* ; Drug Monitoring/methods* ; Humans ; Organ Transplantation ; Immunosuppressive Agents/administration & dosage* ; Delphi Technique

Cardiac fibrosis is characterized by an elevated amount of extracellular matrix (ECM) within the heart. However, the persistence of cardiac fibrosis ultimately diminishes contractility and precipitates cardiac dysfunction. Circular RNAs (circRNAs) are emerging as important regulators of cardiac fibrosis. Here, we elucidate the functional role of a specific circular RNA CELF1 in cardiac fibrosis and delineate a novel feedback loop mechanism. Functionally, circ-CELF1 was involved in enhancing fibrosis-related markers' expression and promoting the proliferation of cardiac fibroblasts (CFs), thereby exacerbating cardiac fibrosis. Mechanistically, circ-CELF1 reduced the ubiquitination-degradation rate of BRPF3, leading to an elevation of BRPF3 protein levels. Additionally, BRPF3 acted as a modular scaffold for the recruitment of histone acetyltransferase KAT7 to facilitate the induction of H3K14 acetylation within the promoters of the Celf1 gene. Thus, the transcription of Celf1 was dramatically activated, thereby inhibiting the subsequent response of their downstream target gene Smad7 expression to promote cardiac fibrosis. Moreover, Celf1 further promoted Celf1 pre-mRNA transcription and back-splicing, thereby establishing a feedback loop for circ-CELF1 production. Consequently, a novel feedback loop involving CELF1/circ-CELF1/BRPF3/KAT7 was established, suggesting that circ-CELF1 may serve as a potential novel therapeutic target for cardiac fibrosis.

Objective Compare the depression phenotypes of a breast cancer tumor-bearing mouse model constructed using two different method and a mouse model of breast cancer depression with clinical manifestations,as well as assess their suitability for basic research.Methods We constructed a tumor model with 4T1 breast cancer cells alone(4T1 group)and a tumor-depression composite model given chronic unpredictable mild(CUMS)(4T1+CUMS group).The experimental period was 42 d,and the body mass,tumor volume,and survival time of the mice were monitored throughout the whole process.Two depressive behavioral tests(of sucrose preference test,open field test,tail suspension test,and elevated plus maze)were performed on the 15th and 29th days,respectively.Hematoxylin-eosin(HE)staining was used to observe the pathological changes of hippocampal neurons in brain tissue sections.Results(1)Body mass:The body mass of the 4T1 group and 4T1+CUMS group began to decrease from 29 d,and the body mass of the 4T1+CUMS group was significantly lower than that of the 4T1 group and Control group at the end of the experiment(P<0.001).(2)Tumor volume:There was no significant difference in the growth rate of tumors between the two model groups throughout the experiment(P>0.05).(3)Survival time:The survival rates of the 4T1 group and 4T1+CUMS group were 100％and 60％,and the first death of mice in the 4T1+CUMS group was on the 36th day.(4)Behavior test of depression:There was no significant difference between the three groups in the first depressive behavior tests(P>0.05),and the two groups showed obvious depressive phenotypes in the second behavioral tests.The sucrose preference index and activity distance in the central area were significantly decreased in the two model groups(P<0.001),and the immobility time was significantly increased(P<0.001).(5)Pathological section of brain tissue:On pathological examination of brain tissue,we observed a reduced number of neuronal cells in the hippocampus of the 4T1 group and 4T1+CUMS group,their morphology was irregular,the arrangement between the cells was disordered and the gap was unclear,and some nucleoli were blurred.Conclusions Although the tumor-only method and the tumor with compound stress stimulation method can both be used to prepare breast cancer depression models,the tumor-only modeling method is simpler and the mortality rate after successful modeling is higher.The long window of time is convenient for subsequent drug administration and detection,and the causes of the depression phenotype are more in line with the clinical causes and manifestations.Therefore,the 4T1 model can provide a reference model for future animal experiments on breast cancer tumor-related depression.

Objective To investigate the feasibility and accuracy of convolutional neural networks for automatically delineating the pancreatic cancer gross target volume(GTV)in pancreatic enhanced CT.Methods The localizable enhanced CT images of 114 patients with pancreatic cancer were retrospectively selected,in which the GTV was manually delineated using AccuContour.The imaging data were then import to AccuLearning and randomly divided as the training set,validation set and test set at a ratio of 8:1:1.Flex and Segresnet were used to train the automatic segmentation model,with each network structure trained continuously 3 times using fixed training parameters.The model was evaluated in terms of Dice similarity coefficient(DSC),95%Hausdorff distance(HD95),average symmetric surface distance(ASSD)and relative volume difference(RVD).Results In the model training phase,Flex-3 test results in Flex group were the worst,with a minimum DSC of 0.14%and an average DSC of 56.30%,while Flex-1 performed well,achieving a minimum DSC of 47.90%and an average DSC of 67.35%.Meanwhile,Segresnet-2 in Segresnet group had the worst test results,with a minimum DSC of 0.00%and an average DSC of 42.46%,while Segresnet-3 test results were better,with a minimum DSC of 42.65%and an average DSC of 63.28%.In the fixed testing phase,the best results among all were as follows:average DSC and RVD values of 63.88%and 29.41%in Segresnet-3 group,average ASSD value of 4.43 mm in Segresnet-2 group,and average HD95 value of 12.87 mm in Segresnet-1 group.Conclusion Both Flex and Segresnet architectures of convolutional neural network can be used for the automatic pancreatic tumor GTV segmentation training,with Segresnet performing better in comprehensive evaluation.

Objective To observe the value of right ventricular free wall longitudinal strain(RVFWLS)to pulmonary artery systolic pressure(PASP)ratio(RVFWLS/PASP)for evaluating systolic function of right ventricle(RV)in patients with hypertrophic cardiomyopathy(HCM).Methods Fifty-two HCM patients were retrospectively collected and divided into group A(RVFWLS/PASP≤0.75,n=26)and B(RVFWLS/PASP＞0.75,n=26)according to median RVFWLS/PASP.Meanwhile,26 healthy individuals were included as control group.Parameters of echocardiography and speckle tracking imaging(STI)were obtained and compared among 3 groups.The correlations of RVFWLS/PASP and other parameters were analyzed with linear regression.Results In group A and B,left ventricular ejection fraction(LVEF),RV septal longitudinal strain(RVSepLS),RVFWLS,RV end-diastolic volume index(RVEDVi),RV stroke volume(RVSV),RV fractional area change(RVFAC)and left ventricular global longitudinal strain(LVGLS)were all lower,while the ratio of peak E blood flow velocity at mitral orifice diastole to early mitral intervalal annulus diastole velocity(E/e′)were higher than those in control group(all adjusted P＜0.05).Compared with group B and control group,group A had higher PASP but lower RV ejection fraction(RVEF)(all adjusted P＜0.05).Furthermore,RVFWLS and LVGLS were both lower in group A than in group B(both adjusted P＜0.05).Linear regression analysis showed that RVSepLS and RVEF were independently linearly related to RVFWLS/PASP(both P＜0.05).Conclusion RVFWLS/PASP could be used to monitor changes of RV systoic function in HCM patients at early stage.

Objective:To compare the efficacy of three-dimensional visualization-assisted intermuscular versus conventional intermuscular cervical expansive open-door laminoplasty (CEOL) in the treatment of cervical spinal cord injury without fracture or dislocation (CSCIWFD).Methods:A retrospective cohort study was conducted to analyze the clinical data of 58 patients with CSCIWFD admitted to Zhengzhou Orthopedic Hospital from October 2021 to January 2024, including 39 males and 19 females, aged 36-77 years [(52.9±8.9)years]. Among them, 26 patients were treated with three-dimensional visualization-assisted intermuscular CEOL (three-dimensional visualization group), while 32 patients were treated with conventional intermuscular CEOL (conventional intermuscular group). All patients were treated with CEOL in 4 segments (C 3-C 6), comprising 104 surgical segments in the three-dimensional visualization group and 128 in the conventional intermuscular group. The following outcomes were compared between the two groups, including the operative duration, intraoperative blood loss, accuracy rate of open-door and hinge placement at the surgical levels, visual analogue scale (VAS) of the neck and shoulder and Japanese Orthopedic Association (JOA) score preoperatively, at 1 week, 1 month, 3 months, 6 months postoperatively and at the last follow-up, American Spinal Injury Association (ASIA) impairment scale preoperatively and at the last follow-up, and postoperative complication rate. Results:All patients were followed up for 12-24 months [(17.5±3.1)months]. The operative duration and intraoperative blood loss were (117.0±12.3)minutes and (151.3±30.9)ml in the three-dimensional visualization group, which were shorter or less than (131.9±15.0)minutes and (184.7±42.9)ml in the conventional intermuscular group ( P<0.01). The accuracy rate of open-door and hinge placement at the surgical levels was 94.2% (98/104) in the three-dimensional visualization group, significantly higher than 83.6% (107/128) in the conventional intermuscular group ( P<0.05). The VAS scores of the neck and shoulder preoperatively, at 1 week, 1 month, 3 months, 6 months postoperatively, and at the last follow-up were 6.0(5.0, 7.0)points, 3.5(3.0, 4.0)points, 3.0(2.0, 3.0)points, 2.0(1.0, 3.0)points, 2.0(1.0, 2.3)points, and 2.0(1.0, 2.0)points in the three-dimensional visualization group, which were not statistically different from 5.0(4.3, 6.8)points, 4.0(3.0, 4.0)points, 3.0(2.0, 3.0)points, 2.0(1.3, 2.0)points, 2.0(1.0, 2.8)points, and 2.0(1.0, 2.0)points in the conventional intermuscular group ( P>0.05). The VAS scores of the neck and shoulder in the two groups were significantly decreased at 1 week, 1 month and 3 months postoperatively from the preoperative values ( P<0.05), while they were stabilized at 6 months postoperatively and at the last follow-up compared with those at 3 months postoperatively, with no significant difference among them ( P>0.05). The JOA scores were (8.1±2.8)points, (10.0±2.6)points, (10.5±2.6)points, (11.6±2.3)points, (12.7±2.3)points, and (13.7±2.4)points in the three-dimensional visualization group, which were not statistically different from (8.8±2.2)points, (10.3±2.1)points, (10.8±2.0)points, (12.0±2.0)points, (12.9±2.0)points, and (13.8±2.1)points in the conventional intermuscular group ( P>0.05). The JOA scores of the two groups showed continuous improvement at 1 week, 1 month, 3 months, 6 months postoperatively and at the last follow-up in comparison with the preoperatively values ( P<0.05). Although no significant difference was observed between the two groups in ASIA grade preoperatively and at the last follow-up ( P>0.05), the ASIA grade at the last follow-up was significantly improved compared with that before surgery in both groups ( P<0.05). The postoperative complication rate was 12% (3/26) in the three-dimensional visualization group, significantly lower than 38% (12/32) in the conventional intermuscular group ( P<0.05). Conclusion:Compared with the conventional intermuscular approach, the three-dimensional visualization-assisted intermuscular CEOL offers advantages in reducing surgical trauma, improving surgical precision, and lowering the postoperative complication rate in the treatment of CSCIWFD.