1.Prenatal ultrasound manifestations and postnatal follow-up of fetuses with 22q11.2 microdeletion syndrome.
Xiaofei LIU ; Ya'nan WANG ; Tizhen YAN ; Shengli ZHANG ; Yanchuan XIE ; Jiwu LOU ; Hongwei JIANG
Chinese Journal of Medical Genetics 2026;43(1):31-35
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
2.Management of Ureteral Long-term Incarcerated Stones by Using a Novel Ureterorenoscope With Vacuum Suctioning System Combined With Flexible Ureteroscope
Kunwu YAN ; Xiaofei TIAN ; Meng CAI
Chinese Journal of Minimally Invasive Surgery 2025;25(6):366-371
Objective To evaluate the therapeutic efficacy of a novel ureterorenoscope(Sotn ureterorenoscope)combined with flexible ureteroscope in the management of ureteral long-term incarcerated stones.Methods From June 2019 to January 2024,116 cases of ureteral incarcerated stones that had developed for over 1 year were treated in our department.Among them,45 cases were treated by using the Sotn ureterorenoscope combined with flexible ureteroscope(Sotn group),and 71 cases were given rigid ureteroscopy with flexible ureteroscopy(regular group).In the Sotn group,a standard endoscope and a rigid ureteral channel sheath were inserted under direct vision.With the sheath indwelled,a lithotripsy endoscope was replaced for stone fragmentation and removal.If the stone moved up,a flexible ureteroscope was inserted to explore the renal pelvis for lithotripsy.In the regular group,a rigid ureteroscope was used to explore the affected ureter for lithotripsy.If the stone moved up during the lithotripsy process,a sheath was inserted and the ureteroscope was replaced for lithotripsy.The operation time,surgical bleeding volume,incidence of postoperative complications,stone-free rate after operation,and postoperative hospital stay were compared between the two groups.Results There were no statistically significant differences in operation time,surgical bleeding volume,and postoperative hospital stay between the two groups(P>0.05).The incidence of postoperative complications(back pain,fever,nausea and vomiting)in the Sotn group was lower than that in the regular group[15.6%(7/45)vs.33.8%(24/71),x2=4.683,P=0.030;6.7%(3/45)vs.26.8%(19/71),x2=7.236,P=0.007;4.4%(2/45)vs.23.9%(17/71),x2=7.646,P=0.006].The instant stone-free rate(at day 1 after operation)in the Sotn group was significantly higher than that in the regular group[51.1%(23/45)vs.16.9%(12/71),x2=15.299,P=0.000].Conclusion The Sotn ureterorenoscope has lower incidence of postoperative complications and higher instant stone-free rate in the treatment of long-term incarcerated ureteral stones,which is a safe and effective surgical technique.
3.The application and evaluation of O-PIRTAS flipped classroom in teaching the course of "developmental psychology"
Huijie LU ; Fengzhan LI ; Xiaofei YAN ; Lin WU ; Lingling WANG ; Ying LUO
Chinese Journal of Medical Education Research 2025;24(10):1322-1326
Objective:To explore the application of the O-PIRTAS flipped classroom in teaching the course of "developmental psychology".Methods:This study involved second-year undergraduate students majoring in clinical psychology. The 26 undergraduate students enrolled in 2023 who participated in the late adulthood section of the course were selected as the experimental group (O-PIRTAS teaching), while the 25 undergraduate enrolled in 2022 in the same course were selected as the control group (traditional teaching). Assessments were conducted through closed-book tests and questionnaires. The student questionnaire evaluated their theoretical knowledge, class assessment, and class engagement. The teacher questionnaire assessed the completeness of the lecture, logical flow, and student engagement. SPSS 22.0 was used for t test. Results:In the theoretical examination, the experimental group showed significantly higher scores compared to the control group in knowledge application [(13.09±1.59) vs. (10.54±0.77)] and practical problem-solving ability [(8.27±0.57) vs. (6.95±0.32)]. In the questionnaire survey, 24 (92.00%) students in the experimental group expressed recognition of the flipped classroom mode. Teachers reported greater improvement in satisfaction with the classroom performance of the experimental group compared to the control group.Conclusions:O-PIRTAS flipped classroom improves the quality of teaching "developmental psychology", enhances student learning outcomes, and stimulates learning motivation.
4.Characteristics of traditional Chinese medicine syndromes in patients with Chikungunya hemorrhagic fever:a cross-sectional study
Shiying LU ; Danwen ZHENG ; Xintian HONG ; Yuping LIU ; Guangzong LI ; Zhifeng HONG ; Jinghua YANG ; Yan ZHANG ; Banghan DING ; Yuntao LIU ; Yuanyuan WANG ; Xin YIN ; Jingwei SHUI ; Xiaofei FAN ; Hai LAN ; Zhongde ZHANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(11):1531-1539
Objective To explore the traditional Chinese medicine(TCM)syndrome characteristics of patients with Chikungunya hemorrhagic fever and to provide empirical data to support the application of TCM in diagnosing and treating Chikungunya hemorrhagic fever.Methods A cross-sectional survey was conducted to collect clinical data(sex,age,days since onset,and comorbidity underlying disease conditions)and TCM with four-examination information(symptoms,tongue manifestations,and pulse manifestations)from 255 patients with Chikungunya hemorrhagic fever who visited Lecong Hospital of Shunde,Foshan,the Third People's Hospital of Shunde District of Foshan,Shunde Hospital of Southern Medical University Affiliated Chencun Hospital between July 23 and July 29,2025.Factor and cluster analyses were used to summarize TCM syndrome characteristics and analyze core pathogenesis in conjunction with clinical features.Results Among the 255 patients with Chikungunya hemorrhagic fever,131 were male and 124 were female,with a age of(49.05±17.93)years and a disease duration of(3.26±1.78)days.Among the four types of examination information in TCM,35 items exhibited a frequency exceeding 10%.The most prevalent symptoms were arthralgia(180 patients,70.59%),exanthem(153 patients,60.00%),fatigue(99 patients,38.82%),anhidrosis(98 patients,38.43%),pruritus(96 patients,37.65%),and fever(92 patients,36.08%).Tongue and pulse manifestations were primarily white fur(155 patients,60.78%),pink tongue(111 patients,43.53%),slippery pulse(143 patients,56.08%),and greasy fur(134 patients,52.53%).Patients with disease onset≤3 d had a higher incidence of arthralgia,fatigue,fever,aversion to cold,generalized muscle pain,aversion to wind,insomnia,headache,sweating,low-grade fever,poor appetite,loose stool,hyperhidrosis,and red tongue than those with disease onset≥4 d(P<0.05).Patients with disease onset≥4 d had a higher incidence of pink tongue and thick fur than those with disease onset≤3 d(P<0.05).The syndrome elements in patients with Chikungunya hemorrhagic fever predominantly manifested on the defensive exterior,with involvement of the sinew-bone joints,skin-muscle,and spleen.Pathogenic factors were primarily characterized by external winds,dampness,and heat.Factor and cluster analysis result indicated three TCM pathogenesis progression patterns:imbalance of the defensive exterior with wind-dampness conflict and heat transformation;dampness-heat flowing into muscles and meridians causing joint obstruction and qi blood stasis;and dampness-heat congelation resulting in qi mechanism obstruction,consumption of body fluids,and infiltration of the skin.Conclusion Patients with Chikungunya hemorrhagic fever primarily present with fever,joint pain,and rashes.In TCM,this condition falls under the category of"dampness-warmth"syndrome.Its etiology is attributed to pathogens,with transmission occurring through mosquito bites.The core pathogenesis of TCM is the invasion of the defensive exterior and dampness-toxic heat accumulation.The therapeutic principles focus on clearing heat pathogens,resolving dampness pathogens,dispersing wind pathogens,and promoting the resolution of rashes.
5.Application of comprehensive unit-based safety program collaborative action strategy in preventing catheter-associated urinary tract infection among elderly patients and its effect
Xiaofei XU ; Lingling ZHU ; Xian XIA ; Huili LI ; Jingjing YAN ; Ting WU ; Jinfen SHI
Chinese Journal of Nosocomiology 2025;35(20):3151-3155
OBJECTIVE To explore the effect of the comprehensive unit-based safety program(CUSP)collaborative action strategy on reducing the incidence of catheter-associated urinary tract infection(CAUTI)in elderly patients.METHODS From Jun.to Nov.2024,the Seventh Medical Center of the PLA General Hospital implemented the CUSP collaborative action strategy for intervention.Comparisons were made between pre-intervention(from Dec.2023 to May 2024)and post-intervention(from Jun.to Nov.2024)regarding nurses' know ledge-attitude-practice(KAP)scores on CAUTI prevention,implementation rates of key nursing measures for elderly CAUTI prevention and CAUTI incidence rates among elderly patients.RESULTS The pre-intervention KAP score of nurses from geriatric de-partment on CAUTI prevention was(83.44±6.67),significantly lower than the post-intervention score(108.19±16.27)(P<0.001).The implementation rates of 10 key nursing measures for elderly CAUTI prevention improved(P<0.05).The incidence rate of CAUTI was 2.88‰(16/5 546)among 5 546 catheter days before the intervention,and the incidence rate of CAUTI was 0.73‰(4/5 496)among 5 496 catheter days after the intervention(P=0.008).CONCLUSIONS The CUSP collaborative action strategy effectively enhances the KAP levels of nurses from geriatric department on CAUTI prevention,improves the implementation rates of key nursing measures,and reduces CAUTI incidence rates among elderly patients.
6.Updated RANO-EANO Guidelines for PET Imaging in Gliomas:Focusing on Amino Acid PET in Clinical Practice
Xiaofei HU ; Shaozhen YAN ; Song ZHANG ; Dingde HUANG
Chinese Journal of Medical Imaging 2025;33(11):1151-1154
In 2025,the Response Assessment in Neuro-Oncology(RANO)working group and the European Association for Neuro-Oncology jointly released the updated guidelines for the clinical use of PET imaging in gliomas.Building upon the methodological framework established in the 2024 PET RANO 1.0 criteria,the new guidelines systematically integrate clinical evidence for amino acid PET and achieve alignment with MRI RANO 2.0 in imaging assessment logic,marking a paradigm shift of amino acid PET from a research tool to a clinical decision-making tool.This article provides a comprehensive analysis of key updates in the guidelines and evaluates the application value and recommendation levels of amino acid PET across critical clinical scenarios.Furthermore,it emphasizes the advantages of integrated PET/MR imaging in multimodal information integration for glioma management.
7.Updated RANO-EANO Guidelines for PET Imaging in Gliomas:Focusing on Amino Acid PET in Clinical Practice
Xiaofei HU ; Shaozhen YAN ; Song ZHANG ; Dingde HUANG
Chinese Journal of Medical Imaging 2025;33(11):1151-1154
In 2025,the Response Assessment in Neuro-Oncology(RANO)working group and the European Association for Neuro-Oncology jointly released the updated guidelines for the clinical use of PET imaging in gliomas.Building upon the methodological framework established in the 2024 PET RANO 1.0 criteria,the new guidelines systematically integrate clinical evidence for amino acid PET and achieve alignment with MRI RANO 2.0 in imaging assessment logic,marking a paradigm shift of amino acid PET from a research tool to a clinical decision-making tool.This article provides a comprehensive analysis of key updates in the guidelines and evaluates the application value and recommendation levels of amino acid PET across critical clinical scenarios.Furthermore,it emphasizes the advantages of integrated PET/MR imaging in multimodal information integration for glioma management.
8.Management of Ureteral Long-term Incarcerated Stones by Using a Novel Ureterorenoscope With Vacuum Suctioning System Combined With Flexible Ureteroscope
Kunwu YAN ; Xiaofei TIAN ; Meng CAI
Chinese Journal of Minimally Invasive Surgery 2025;25(6):366-371
Objective To evaluate the therapeutic efficacy of a novel ureterorenoscope(Sotn ureterorenoscope)combined with flexible ureteroscope in the management of ureteral long-term incarcerated stones.Methods From June 2019 to January 2024,116 cases of ureteral incarcerated stones that had developed for over 1 year were treated in our department.Among them,45 cases were treated by using the Sotn ureterorenoscope combined with flexible ureteroscope(Sotn group),and 71 cases were given rigid ureteroscopy with flexible ureteroscopy(regular group).In the Sotn group,a standard endoscope and a rigid ureteral channel sheath were inserted under direct vision.With the sheath indwelled,a lithotripsy endoscope was replaced for stone fragmentation and removal.If the stone moved up,a flexible ureteroscope was inserted to explore the renal pelvis for lithotripsy.In the regular group,a rigid ureteroscope was used to explore the affected ureter for lithotripsy.If the stone moved up during the lithotripsy process,a sheath was inserted and the ureteroscope was replaced for lithotripsy.The operation time,surgical bleeding volume,incidence of postoperative complications,stone-free rate after operation,and postoperative hospital stay were compared between the two groups.Results There were no statistically significant differences in operation time,surgical bleeding volume,and postoperative hospital stay between the two groups(P>0.05).The incidence of postoperative complications(back pain,fever,nausea and vomiting)in the Sotn group was lower than that in the regular group[15.6%(7/45)vs.33.8%(24/71),x2=4.683,P=0.030;6.7%(3/45)vs.26.8%(19/71),x2=7.236,P=0.007;4.4%(2/45)vs.23.9%(17/71),x2=7.646,P=0.006].The instant stone-free rate(at day 1 after operation)in the Sotn group was significantly higher than that in the regular group[51.1%(23/45)vs.16.9%(12/71),x2=15.299,P=0.000].Conclusion The Sotn ureterorenoscope has lower incidence of postoperative complications and higher instant stone-free rate in the treatment of long-term incarcerated ureteral stones,which is a safe and effective surgical technique.
9.Analysis of the chemical constituents of Maxing Shigan decoction by UPLC-Q-TOF/MS
Xue ZHAO ; Yanqiu GU ; Haowen CHU ; Caisheng WU ; Gao LI ; Xiaofei CHEN
Journal of Pharmaceutical Practice and Service 2025;43(11):548-554
Objective To analyze chemical constituents of compound Maxing Shigan decoction by ultra-high perfor-mance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF/MS). Methods The separation was performed on a UPLC BEH C18 column (2.1 mm×100 mm, 2.5 µm),with a gradient elution applying 0.1% aqueous formic acid solution and 0.1% formic acid acetonitrile as a mobile phase. The column temperature was 40 °C. The flow rate was 0.4 ml/min and the analysis time was 15 min. Mass spectrometry (MS) data were collected in both positive and negative ESI ion modes. Results Through UPLC-QTOF/MS analysis and reference validation, a total of 59 chemical components in Maxing Shigan decoction were identified. Conclusion An ultra-high performance liquid chromatography quadrupole time-of-flight mass spectrometry (UPLC-QTOF/MS) method was established to identify the chemical components of Maxing Shigan decoction. This method is simple, efficient, sensitive and accurate, and provides a basis for the elucidation of the pharmacodynamic material basis and mechanism of Maxing Shigan decoction. It can provide data reference for the optimization of the compatibility of traditional Chinese medicine in the treatment of COVID-19.
10.Huoxue Jiedu Formulas (活血解毒方药) as an Adjunctive Therapy for Patients with Binding of Stasis and Toxin Syndrome during the Vulnerable Period after Myocardial Infarction:A Prospective Real-World Study
Xiaofei GENG ; Yingxi YANG ; Zhipeng YAN ; Xinbiao FAN ; Xitong SUN ; Boyu ZHU ; Zheng ZHANG ; Yongchun LIANG ; Xiaoyu SHAN ; Junping ZHANG
Journal of Traditional Chinese Medicine 2025;66(23):2467-2474
ObjectiveTo observe the efficacy of Huoxue Jiedu Formulas (活血解毒方药, HJF) as an adjunctive treatement for patients with binding of stasis and toxin syndrome during the vulnerable period after acute myocardial infarction (AMI) percutaneous coronary intervention (PCI) surgery, and to explore its potential mechanism from the perspective of serum neutrophil extracellular traps (NETs). MethodsA total of 129 patients with binding of stasis and toxin syndrome within 6 months after PCI for AMI were enrolled and divided into a treatment group (65 cases) and a control group (64 cases) based on patients' willingness to take Chinese herbal medicine. The control group received standard western medical therapy alone, while the treatment group additionally received HJF, one dose daily. Both groups were treated for four weeks. Before and after treatment, TCM syndrome scores were assessed. Seattle angina questionnaire (SAQ) was used to record angina stability and frequency scores, while the short form-36 health survey (SF-36) was employed to assess quality of life across eight dimensions, including physical functioning, role-physical, bodily pain, general health, vitality, social functioning, role-emotional, and mental health. The Pittsburgh sleep quality index (PSQI) was used to evaluate sleep quality, and the patient health questionnaire-15 (PHQ-15) was used to assess psychosomatic symptoms; Duke activity status index (DASI) was used to measure daily physical activity. Serum levels of neutrophil extracellular traps (NET) markers including myeloperoxidase-DNA (MPO-DNA), neutrophil elastase-DNA (NE-DNA), and citrullinated histone H3 (CitH3) were measured in 20 patients from the treatment group. ResultsAfter treatment, TCM syndrome score, PSQI score and PHQ-15 score in both groups significantly decreased, while DASI score, angina stability and frequency scores, and all eight dimensions of the SF-36 scale significantly increased (P<0.05). Compared to the control group, the treatment group had significantly lower TCM syndrome scores and significantly higher DASI, angina stability and frequency scores (P<0.05), as well as higher scores in the SF-36 dimensions of physical functioning, role-physical, social functioning, bodily pain, and vitality (P<0.05). After treatment, serum levels of MPO-DNA, CitH3, and NE-DNA in the treatment group were significantly reduced (P<0.05). ConclusionHJF combined with conventional therapy can significantly improve angina symptoms, TCM syndrome scores, and psychosomatic conditions in patients with binding of stasis and toxin syndrome during the vulnerable period after AMI. It also enhances quality of life, sleep quality, and daily physical activity. The underlying mechanism may be associated with the inhibition of serum NETs level.

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