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.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.
4.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.
5.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.
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.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.
8.Synergistic Activation of LEPR and ADRB2 Induced by Leptin Enhances Reactive Oxygen Specie Generation in Triple-Negative Breast Cancer Cells
Chang LIU ; Jing YU ; Yongjun DU ; Yu XIE ; Xiaofei SONG ; Chang LIU ; Yan YAN ; Yue WANG ; Junfang QIN
Cancer Research and Treatment 2025;57(2):457-477
Purpose:
Leptin interacts not only with leptin receptor (LEPR) but also engages with other receptors. While the pro-oncogenic effects of the adrenergic receptor β2 (ADRB2) are well-established, the role of leptin in activating ADRB2 in triple-negative breast cancer (TNBC) remains unclear.
Materials and Methods:
The pro-carcinogenic effects of LEPR were investigated using murine TNBC cell lines, 4T1 and EMT6, and a tumor-bearing mouse model. Expression levels of LEPR, NADPH oxidase 4 (NOX4), and ADRB2 in TNBC cells and tumor tissues were analyzed via western blot and quantitative real-time polymerase chain reaction. Changes in reactive oxygen species (ROS) levels were assessed using flow cytometry and MitoSox staining, while immunofluorescence double-staining confirmed the co-localization of LEPR and ADRB2.
Results:
LEPR activation promoted NOX4-derived ROS and mitochondrial ROS production, facilitating TNBC cell proliferation and migration, effects which were mitigated by the LEPR inhibitor Allo-aca. Co-expression of LEPR and ADRB2 was observed on cell membranes, and bioinformatics data revealed a positive correlation between the two receptors. Leptin activated both LEPR and ADRB2, enhancing intracellular ROS generation and promoting tumor progression, which was effectively countered by a specific ADRB2 inhibitor ICI118551. In vivo, leptin injection accelerated tumor growth and lung metastases without affecting appetite, while treatments with Allo-aca or ICI118551 mitigated these effects.
Conclusion
This study demonstrates that leptin stimulates the growth and metastasis of TNBC through the activation of both LEPR and ADRB2, resulting in increased ROS production. These findings highlight LEPR and ADRB2 as potential biomarkers and therapeutic targets in TNBC.
9.Synergistic Activation of LEPR and ADRB2 Induced by Leptin Enhances Reactive Oxygen Specie Generation in Triple-Negative Breast Cancer Cells
Chang LIU ; Jing YU ; Yongjun DU ; Yu XIE ; Xiaofei SONG ; Chang LIU ; Yan YAN ; Yue WANG ; Junfang QIN
Cancer Research and Treatment 2025;57(2):457-477
Purpose:
Leptin interacts not only with leptin receptor (LEPR) but also engages with other receptors. While the pro-oncogenic effects of the adrenergic receptor β2 (ADRB2) are well-established, the role of leptin in activating ADRB2 in triple-negative breast cancer (TNBC) remains unclear.
Materials and Methods:
The pro-carcinogenic effects of LEPR were investigated using murine TNBC cell lines, 4T1 and EMT6, and a tumor-bearing mouse model. Expression levels of LEPR, NADPH oxidase 4 (NOX4), and ADRB2 in TNBC cells and tumor tissues were analyzed via western blot and quantitative real-time polymerase chain reaction. Changes in reactive oxygen species (ROS) levels were assessed using flow cytometry and MitoSox staining, while immunofluorescence double-staining confirmed the co-localization of LEPR and ADRB2.
Results:
LEPR activation promoted NOX4-derived ROS and mitochondrial ROS production, facilitating TNBC cell proliferation and migration, effects which were mitigated by the LEPR inhibitor Allo-aca. Co-expression of LEPR and ADRB2 was observed on cell membranes, and bioinformatics data revealed a positive correlation between the two receptors. Leptin activated both LEPR and ADRB2, enhancing intracellular ROS generation and promoting tumor progression, which was effectively countered by a specific ADRB2 inhibitor ICI118551. In vivo, leptin injection accelerated tumor growth and lung metastases without affecting appetite, while treatments with Allo-aca or ICI118551 mitigated these effects.
Conclusion
This study demonstrates that leptin stimulates the growth and metastasis of TNBC through the activation of both LEPR and ADRB2, resulting in increased ROS production. These findings highlight LEPR and ADRB2 as potential biomarkers and therapeutic targets in TNBC.
10.Synergistic Activation of LEPR and ADRB2 Induced by Leptin Enhances Reactive Oxygen Specie Generation in Triple-Negative Breast Cancer Cells
Chang LIU ; Jing YU ; Yongjun DU ; Yu XIE ; Xiaofei SONG ; Chang LIU ; Yan YAN ; Yue WANG ; Junfang QIN
Cancer Research and Treatment 2025;57(2):457-477
Purpose:
Leptin interacts not only with leptin receptor (LEPR) but also engages with other receptors. While the pro-oncogenic effects of the adrenergic receptor β2 (ADRB2) are well-established, the role of leptin in activating ADRB2 in triple-negative breast cancer (TNBC) remains unclear.
Materials and Methods:
The pro-carcinogenic effects of LEPR were investigated using murine TNBC cell lines, 4T1 and EMT6, and a tumor-bearing mouse model. Expression levels of LEPR, NADPH oxidase 4 (NOX4), and ADRB2 in TNBC cells and tumor tissues were analyzed via western blot and quantitative real-time polymerase chain reaction. Changes in reactive oxygen species (ROS) levels were assessed using flow cytometry and MitoSox staining, while immunofluorescence double-staining confirmed the co-localization of LEPR and ADRB2.
Results:
LEPR activation promoted NOX4-derived ROS and mitochondrial ROS production, facilitating TNBC cell proliferation and migration, effects which were mitigated by the LEPR inhibitor Allo-aca. Co-expression of LEPR and ADRB2 was observed on cell membranes, and bioinformatics data revealed a positive correlation between the two receptors. Leptin activated both LEPR and ADRB2, enhancing intracellular ROS generation and promoting tumor progression, which was effectively countered by a specific ADRB2 inhibitor ICI118551. In vivo, leptin injection accelerated tumor growth and lung metastases without affecting appetite, while treatments with Allo-aca or ICI118551 mitigated these effects.
Conclusion
This study demonstrates that leptin stimulates the growth and metastasis of TNBC through the activation of both LEPR and ADRB2, resulting in increased ROS production. These findings highlight LEPR and ADRB2 as potential biomarkers and therapeutic targets in TNBC.

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