1.Spatiotemporal Electrical Impedance Tomography for Speech Respiratory Assessment in Cleft Palate: an Interpretable Machine Learning Study
Yang WU ; Xiao-Jing ZHANG ; Hao YU ; Cheng-Hui JIANG ; Bo SUN ; Jia-Feng YAO
Progress in Biochemistry and Biophysics 2026;53(2):485-500
ObjectiveCleft palate (CP) is a common congenital deformity often associated with velopharyngeal insufficiency (VPI), which disrupts the physiological coupling between respiration and speech. Conventional clinical assessments, such as nasometry and spirometry, provide limited static data and fail to visualize the dynamic spatiotemporal distribution of lung ventilation during phonation. This study introduces spatiotemporal electrical impedance tomography (ST-EIT) to evaluate speech-respiratory functional features in CP patients compared to normal controls (NC). The aim is to characterize multi-domain respiratory patterns and to validate an interpretable machine learning framework for providing objective, quantitative evidence for clinical assessment. MethodsSeventy-five participants were enrolled in this study, comprising 37 patients with surgically repaired CP and 38 healthy volunteers matched for age, gender, and body mass index (BMI). All subjects performed standardized sustained phonation tasks while undergoing synchronous monitoring with a 16-electrode EIT system and a pneumotachograph. A comprehensive feature engineering pipeline was developed to extract physiological parameters across 3 complementary domains. (1) Temporal domain: including inspiratory/expiratory phase duration (tPhase), time constants (Tau), and inspiratory-to-expiratory time ratios (TI/TE); (2) airflow domain: comprising mean flow, peak flow, and instantaneous flow at 25%, 50%, and 75% of tidal volume; and (3) spatial domain: quantifying global and regional tidal impedance variation (TIV), global inhomogeneity (GI), and center of ventilation (CoV). Extreme Gradient Boosting (XGBoost) classifiers were trained using 5 distinct data sources (Spirometry, Nasometry, Inspiratory-EIT, Expiratory-EIT, and fused ST-EIT). Model performance was rigorously evaluated via stratified 5-fold cross-validation, and Shapley additive explanations (SHAP) were employed to quantify global and local feature contributions. ResultsThe CP group exhibited a distinct respiratory phenotype compared to controls. In the temporal domain, CP patients showed significantly shorter inspiratory (1.60 s vs.1.85 s, P<0.001) and expiratory phase durations (2.45 s vs. 3.95 s, P<0.001), indicating a rapid, shallow breathing rhythm. In the airflow domain, while inspiratory flows were comparable, the CP group demonstrated significantly elevated mean and peak flows during the expiratory phase (P<0.001), reflecting compensatory respiratory effort. Spatially, CP patients presented significant ventilation redistribution, characterized by higher regional TIV in the right-anterior (ROI1) and left-posterior (ROI4) quadrants, but lower TIV in the left-anterior (ROI2) quadrant. In terms of diagnostic accuracy, the multi-modal ST-EIT model achieved the highest performance (AUC: 0.915±0.012, Accuracy: 0.843±0.019, F1-score: 0.872±0.017), substantially outperforming models based on spirometry (AUC: 0.721) or nasometry (AUC: 0.625) alone. Interpretability analysis revealed that spatial domain features were the most critical, contributing 53.4% to the model’s decision-making, followed by temporal (25.0%) and airflow (21.6%) features. ConclusionST-EIT successfully captures the temporal, airflow, and spatial deviations in CP speech respiration that are undetectable by conventional methods—specifically, rapid phase transitions, hyperdynamic expiratory airflow, and regional ventilation heterogeneity. This study validates ST-EIT as a robust, non-invasive, and radiation-free tool for characterizing speech-respiratory dysfunction, offering high clinical value for bedside screening, rehabilitation planning, and longitudinal monitoring of patients with cleft palate.
2.Spatiotemporal Electrical Impedance Tomography for Speech Respiratory Assessment in Cleft Palate: an Interpretable Machine Learning Study
Yang WU ; Xiao-Jing ZHANG ; Hao YU ; Cheng-Hui JIANG ; Bo SUN ; Jia-Feng YAO
Progress in Biochemistry and Biophysics 2026;53(2):485-500
ObjectiveCleft palate (CP) is a common congenital deformity often associated with velopharyngeal insufficiency (VPI), which disrupts the physiological coupling between respiration and speech. Conventional clinical assessments, such as nasometry and spirometry, provide limited static data and fail to visualize the dynamic spatiotemporal distribution of lung ventilation during phonation. This study introduces spatiotemporal electrical impedance tomography (ST-EIT) to evaluate speech-respiratory functional features in CP patients compared to normal controls (NC). The aim is to characterize multi-domain respiratory patterns and to validate an interpretable machine learning framework for providing objective, quantitative evidence for clinical assessment. MethodsSeventy-five participants were enrolled in this study, comprising 37 patients with surgically repaired CP and 38 healthy volunteers matched for age, gender, and body mass index (BMI). All subjects performed standardized sustained phonation tasks while undergoing synchronous monitoring with a 16-electrode EIT system and a pneumotachograph. A comprehensive feature engineering pipeline was developed to extract physiological parameters across 3 complementary domains. (1) Temporal domain: including inspiratory/expiratory phase duration (tPhase), time constants (Tau), and inspiratory-to-expiratory time ratios (TI/TE); (2) airflow domain: comprising mean flow, peak flow, and instantaneous flow at 25%, 50%, and 75% of tidal volume; and (3) spatial domain: quantifying global and regional tidal impedance variation (TIV), global inhomogeneity (GI), and center of ventilation (CoV). Extreme Gradient Boosting (XGBoost) classifiers were trained using 5 distinct data sources (Spirometry, Nasometry, Inspiratory-EIT, Expiratory-EIT, and fused ST-EIT). Model performance was rigorously evaluated via stratified 5-fold cross-validation, and Shapley additive explanations (SHAP) were employed to quantify global and local feature contributions. ResultsThe CP group exhibited a distinct respiratory phenotype compared to controls. In the temporal domain, CP patients showed significantly shorter inspiratory (1.60 s vs.1.85 s, P<0.001) and expiratory phase durations (2.45 s vs. 3.95 s, P<0.001), indicating a rapid, shallow breathing rhythm. In the airflow domain, while inspiratory flows were comparable, the CP group demonstrated significantly elevated mean and peak flows during the expiratory phase (P<0.001), reflecting compensatory respiratory effort. Spatially, CP patients presented significant ventilation redistribution, characterized by higher regional TIV in the right-anterior (ROI1) and left-posterior (ROI4) quadrants, but lower TIV in the left-anterior (ROI2) quadrant. In terms of diagnostic accuracy, the multi-modal ST-EIT model achieved the highest performance (AUC: 0.915±0.012, Accuracy: 0.843±0.019, F1-score: 0.872±0.017), substantially outperforming models based on spirometry (AUC: 0.721) or nasometry (AUC: 0.625) alone. Interpretability analysis revealed that spatial domain features were the most critical, contributing 53.4% to the model’s decision-making, followed by temporal (25.0%) and airflow (21.6%) features. ConclusionST-EIT successfully captures the temporal, airflow, and spatial deviations in CP speech respiration that are undetectable by conventional methods—specifically, rapid phase transitions, hyperdynamic expiratory airflow, and regional ventilation heterogeneity. This study validates ST-EIT as a robust, non-invasive, and radiation-free tool for characterizing speech-respiratory dysfunction, offering high clinical value for bedside screening, rehabilitation planning, and longitudinal monitoring of patients with cleft palate.
3.Three-dimensional Electrical Impedance Tomography for Monitoring Gastric Hemorrhage
Zi-Han ZHAO ; Bo SUN ; Jing-Shi HUANG ; Zhi-Wei LI ; Yang WU ; Nan LI ; Jia-Feng YAO ; Tong ZHAO
Progress in Biochemistry and Biophysics 2026;53(4):1062-1075
ObjectiveGastric hemorrhage is one of the most common and life-threatening emergencies of the upper digestive tract. Early identification and continuous monitoring are essential for reducing rebleeding rates and mortality, particularly within the critical early hours after onset. Although endoscopy and radiological imaging can accurately localize bleeding sites, these approaches are invasive, resource-intensive, and unsuitable for continuous bedside monitoring. Electrical impedance tomography (EIT), as a noninvasive and radiation-free functional imaging technique, offers real-time visualization of conductivity distribution and has the potential for detecting intragastric bleeding based on the electrical contrast between blood and surrounding gastric tissues. In this study, a three-dimensional gastric EIT (3D-gEIT) framework is proposed to achieve noninvasive, real-time, and dynamic monitoring of gastric hemorrhage, with emphasis on spatial localization and quantitative volume assessment. MethodsA three-dimensional upper-abdominal simulation model incorporating the stomach, gastric wall, gastric contents, and surrounding tissues was established. Three electrode configurations, namely the dual layer ring, the four layer staggered ring, and the opposed dual plane array, were designed and systematically compared to evaluate their influence on depth sensitivity and spatial resolution. Based on the Tikhonov-Noser hybrid regularization scheme, a region-clustering constraint was introduced to develop the TK-Noser-RCC algorithm. This approach aggregates spatially adjacent elements with similar conductivity variations, thereby enhancing structural continuity and suppressing isolated noise artifacts. To validate the proposed framework, an upper-abdominal physical phantom was constructed using agar to simulate background tissue conductivity. Hemispherical high-conductivity inclusions with volumes ranging from 10 ml to 50 ml were attached to the inner gastric wall to mimic localized bleeding under different gastric filling states. Boundary voltages were acquired under a 120 kHz excitation current and reconstructed using the TK-Noser-RCC algorithm. Furthermore, an in vivo animal experiment was performed using a porcine model with adult-scale abdominal dimensions. A total of 100 ml of autologous blood was injected incrementally into the stomach to simulate progressive gastric hemorrhage, and time-difference EIT reconstruction was conducted at each injection stage to assess the dynamic system response under physiological conditions. ResultsSimulation results demonstrated that the opposed dual-plane electrode array achieved superior depth sensitivity distribution and spatial resolution. For a 40 ml hemorrhage model, the average ICC and SSIM improved by 55.9% and 38.8% compared with the dual-layer ring configuration, and by 64.0% and 39.5% compared with the four-layer staggered configuration. The proposed region-clustering constraint significantly enhanced reconstruction stability. Under added Gaussian noise of 40 dB and 30 dB, ICC values remained approximately 0.85, indicating effective artifact suppression and preservation of boundary integrity. In physical phantom experiments, reconstructed hemorrhage volumes increased approximately linearly with the preset hemispherical volumes, and the reconstructed high-conductivity regions closely matched the actual bleeding locations. Both empty-stomach and full-stomach conditions were evaluated, demonstrating that the opposed dual-plane configuration maintained stable imaging performance across varying gastric contents. In the animal experiment, reconstructed low-impedance regions expanded progressively with increasing injected blood volume. The spatial localization of the hemorrhage remained stable throughout the procedure, and no significant artifacts were observed. Quantitative analysis showed that reconstructed volume and average conductivity variation exhibited an approximately linear growth trend with injected blood volume, confirming the sensitivity of the system to dynamic intragastric conductivity changes. ConclusionThe proposed 3D-gEIT framework enables quantitative reconstruction of gastric hemorrhage volume and spatial distribution with improved depth sensitivity, structural continuity, and noise robustness compared with conventional EIT approaches. By integrating optimized electrode configuration and a region-clustering-constrained reconstruction algorithm, the system provides stable dynamic monitoring under both controlled phantom conditions and in vivo physiological environments. This method offers a noninvasive, real-time, and low-cost imaging strategy for early diagnosis, postoperative monitoring, and bedside surveillance of gastric bleeding.
4.Percutaneous coronary intervention vs . medical therapy in patients on dialysis with coronary artery disease in China.
Enmin XIE ; Yaxin WU ; Zixiang YE ; Yong HE ; Hesong ZENG ; Jianfang LUO ; Mulei CHEN ; Wenyue PANG ; Yanmin XU ; Chuanyu GAO ; Xiaogang GUO ; Lin CAI ; Qingwei JI ; Yining YANG ; Di WU ; Yiqiang YUAN ; Jing WAN ; Yuliang MA ; Jun ZHANG ; Zhimin DU ; Qing YANG ; Jinsong CHENG ; Chunhua DING ; Xiang MA ; Chunlin YIN ; Zeyuan FAN ; Qiang TANG ; Yue LI ; Lihua SUN ; Chengzhi LU ; Jufang CHI ; Zhuhua YAO ; Yanxiang GAO ; Changan YU ; Jingyi REN ; Jingang ZHENG
Chinese Medical Journal 2025;138(3):301-310
BACKGROUND:
The available evidence regarding the benefits of percutaneous coronary intervention (PCI) on patients receiving dialysis with coronary artery disease (CAD) is limited and inconsistent. This study aimed to evaluate the association between PCI and clinical outcomes as compared with medical therapy alone in patients undergoing dialysis with CAD in China.
METHODS:
This multicenter, retrospective study was conducted in 30 tertiary medical centers across 12 provinces in China from January 2015 to June 2021 to include patients on dialysis with CAD. The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiovascular death, non-fatal myocardial infarction, and non-fatal stroke. Secondary outcomes included all-cause death, the individual components of MACE, and Bleeding Academic Research Consortium criteria types 2, 3, or 5 bleeding. Multivariable Cox proportional hazard models were used to assess the association between PCI and outcomes. Inverse probability of treatment weighting (IPTW) and propensity score matching (PSM) were performed to account for potential between-group differences.
RESULTS:
Of the 1146 patients on dialysis with significant CAD, 821 (71.6%) underwent PCI. After a median follow-up of 23.0 months, PCI was associated with a 43.0% significantly lower risk for MACE (33.9% [ n = 278] vs . 43.7% [ n = 142]; adjusted hazards ratio 0.57, 95% confidence interval 0.45-0.71), along with a slightly increased risk for bleeding outcomes that did not reach statistical significance (11.1% vs . 8.3%; adjusted hazards ratio 1.31, 95% confidence interval, 0.82-2.11). Furthermore, PCI was associated with a significant reduction in all-cause and cardiovascular mortalities. Subgroup analysis did not modify the association of PCI with patient outcomes. These primary findings were consistent across IPTW, PSM, and competing risk analyses.
CONCLUSION
This study indicated that PCI in patients on dialysis with CAD was significantly associated with lower MACE and mortality when comparing with those with medical therapy alone, albeit with a slightly increased risk for bleeding events that did not reach statistical significance.
Humans
;
Percutaneous Coronary Intervention/methods*
;
Male
;
Female
;
Coronary Artery Disease/drug therapy*
;
Retrospective Studies
;
Renal Dialysis/methods*
;
Middle Aged
;
Aged
;
China
;
Proportional Hazards Models
;
Treatment Outcome
5.Short-term effectiveness of transtibial pull-out technique for complete radial tear of lateral meniscus body.
Hehe ZHONG ; Pengpeng SUN ; Jing CHEN ; Haohao YAO ; Huazhang XIONG ; Shuhong WU
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(4):446-450
OBJECTIVE:
To investigate the short-term effectiveness of transtibial pull-out technique combined with side-to-side suture technique in treatment of complete radial tear of lateral meniscus body.
METHODS:
Between May 2020 and August 2023, 15 patients with complete radial tear of lateral meniscus body were repaired by arthroscopic transtibial pull-out technique combined with side-to-side suture technique. There were 11 males and 4 females, with an average age of 25.2 years (range, 15-43 years). Twelve cases were acute injuries and 3 were chronic injuries. All patients had tenderness in the lateral compartment of the knee. No abnormal alignment was observed on the X-ray films of the knee. MRI showed the complete radial tear of lateral meniscus body without associated injuries such as anterior cruciate ligament or cartilage. Preoperative Lysholm score was 44.5±6.4, International Knee Documentation Committee (IKDC) subjective score was 40.2±8.4, Tegner score was 1.3±1.1, and visual analogue scale (VAS) score for pain was 5.1±1.1. The operation time, incision healing, and complications such as vascular/nerve injury were recorded. During follow-up, the range of motion of the knee and tenderness in the lateral compartment of the knee were observed. The knee function and pain were evaluated using Lysholm score, Tegner score, IKDC subjective score, and VAS score. X-ray films and MRI of the knee were reexamined to assess knee degeneration.
RESULTS:
The operation time was 60-145 minutes (mean, 89.6 minutes). All incisions healed by first intention, and no complication such as vascular/nerve injury occurred. All patients were followed up 17-56 months (mean, 38.4 months). All patients had no knee extension limitation and 3 cases had tenderness in the lateral compartment of the knee. At last follow-up, the Lysholm score, IKDC subjective score, Tegner score, and VAS score for pain were 85.3±7.8, 82.1±15.7, 4.7±1.2, and 1.5±1.0, respectively, which were superior to those before operation ( P<0.05). Imaging reexamination showed that the meniscus was reset at 1 day after operation, and there was no sign of knee degeneration at last follow-up.
CONCLUSION
Transtibial pull-out technique combined with side-to-side suture technique can effectively treat the complete radial tear of lateral meniscus body and obtain good short-term effectiveness.
Humans
;
Male
;
Female
;
Adult
;
Tibial Meniscus Injuries/surgery*
;
Adolescent
;
Young Adult
;
Arthroscopy/methods*
;
Treatment Outcome
;
Suture Techniques
;
Tibia/surgery*
;
Menisci, Tibial/surgery*
;
Magnetic Resonance Imaging
6.Single-incision laparoscopic totally extraperitoneal retrieval of retroperitoneal vas deferens in vasovasostomy for obstructive azoospermia patients postchildhood bilateral herniorrhaphy.
Chen-Wang ZHANG ; Wei-Dong WU ; Jun-Wei XU ; Jing-Peng ZHAO ; Er-Lei ZHI ; Yu-Hua HUANG ; Chen-Cheng YAO ; Fu-Jun ZHAO ; Zheng LI ; Peng LI
Asian Journal of Andrology 2025;27(1):137-138
7.Associations of Ureaplasma urealyticum infection with male infertility and intrauterine insemination outcomes.
Yang-Yang WAN ; Xiao-Yun SHI ; Wen-Jing LIU ; Shun BAI ; Xin CHEN ; Si-Yao LI ; Xiao-Hua JIANG ; Li-Min WU ; Xian-Sheng ZHANG ; Juan HUA
Asian Journal of Andrology 2025;27(2):219-224
Ureaplasma urealyticum (UU) is one of the most commonly occurring pathogens associated with genital tract infections in infertile males, but the impact of seminal UU infection in semen on intrauterine insemination (IUI) outcomes is poorly understood. We collected data from 245 infertile couples who underwent IUI at The First Affiliated Hospital of USTC (Hefei, China) between January 2021 and January 2023. The subjects were classified into two groups according to their UU infection status: the UU-positive group and the UU-negative group. We compared semen parameters, pregnancy outcomes, and neonatal birth outcomes to investigate the impact of UU infection on IUI outcomes. There were no significantly statistical differences in various semen parameters, including semen volume, sperm concentration, total and progressive motility, sperm morphology, leukocyte count, the presence of anti-sperm antibody, and sperm DNA fragmentation index (DFI), between the UU-positive and UU-negative groups of male infertile patients (all P > 0.05). However, the high DNA stainability (HDS) status of sperm differed between the UU-positive and UU-negative groups, suggesting that seminal UU infection may affect sperm nuclear maturation ( P = 0.04). Additionally, there were no significant differences in pregnancy or neonatal birth outcomes between the two groups (all P > 0.05). These results suggest that IUI remains a viable and cost-effective option for infertile couples with UU infection who are facing infertility issues.
Humans
;
Male
;
Ureaplasma Infections/complications*
;
Female
;
Infertility, Male/therapy*
;
Ureaplasma urealyticum/isolation & purification*
;
Pregnancy
;
Adult
;
Pregnancy Outcome
;
Semen Analysis
;
Insemination, Artificial
;
Semen/microbiology*
;
China
8.Clinical characteristics of trimethoprim-sulfamethoxazole-induced rash during treatment of pertussis in children.
Bing-Song WANG ; Kai-Hu YAO ; Xian-Yi ZHANG ; Jing WU ; Fei YING ; Li-Min DONG
Chinese Journal of Contemporary Pediatrics 2025;27(10):1227-1232
OBJECTIVES:
To study the clinical characteristics of rashes induced by trimethoprim-sulfamethoxazole (TMP-SMZ) in children treated for pertussis and to inform safe medication practices.
METHODS:
A retrospective analysis was conducted on 238 children diagnosed with pertussis and treated with TMP-SMZ at Wuhu First People's Hospital from January to August 2024. The incidence and clinical features of rashes were summarized.
RESULTS:
Of 238 children, 34 (14.3%) developed rashes; 19 (55.9%) were boys, and the 5 to <10-year age group accounted for the highest proportion (70.6%, 24/34). A history of allergic disease was present in 50.0% (17/34). Rashes typically appeared on or after day 7 of therapy (82%, 28/34) and were predominantly erythematous or maculopapular eruptions (97%, 33/34); 71% (24/34) were pruritic. Fever occurred in 56% (19/34); among those who were tested for respiratory viruses, 77% (10/13) were positive for viruses such as rhinovirus and adenovirus. After discontinuation of TMP-SMZ, rashes resolved within 3 days in 97% (33/34) of patients (41% within 1 day; 56% within more than 1 but within 3 days). There was no significant difference in rash incidence between photoprotection and non-photoprotection groups (P>0.05).
CONCLUSIONS
TMP-SMZ for pertussis can induce rashes, particularly in children aged 5 to <10 years. The eruption is usually a pruritic erythematous or maculopapular rash, with over half of cases accompanied by fever and frequent concomitant viral infections. Most rashes resolve within 3 days after drug withdrawal. The potential association between the rash and sun exposure warrants further investigation.
Humans
;
Male
;
Child, Preschool
;
Trimethoprim, Sulfamethoxazole Drug Combination/therapeutic use*
;
Child
;
Female
;
Exanthema/chemically induced*
;
Retrospective Studies
;
Infant
;
Whooping Cough/drug therapy*
;
Adolescent
9.Icariin improves busulfan- and cyclophosphamide-induced reproductive function damage in male mice.
Yao WU ; Shan-Shan SHI ; Hai-Yan LIU ; Hao HUANG ; Xing-Hua SHI ; Jing HOU
National Journal of Andrology 2025;31(1):25-33
OBJECTIVE:
To comprehensively evaluate the effect of icariin in alleviating reproductive function damage (RFD) in male mice via in vitro and in vivo experiments.
METHODS:
We isolated Leydig cells from 60 KM male mice in vitro, and examined the toxic effect of icariin on the Leydig cells using Cell Counting Kit-8 (CCK-8). We equally randomized the mice into six groups: normal control, RFD model control (made by intraperitoneal injection of busulfan at 10 mg/kg combined with cyclophosphamide (CP) at 120 mg/kg), positive control, and low-, medium- and high-dose icariin. After modeling, we treated the mice in the positive control group with Wuziyanzong Pills and those in the low-, medium- and high-dose icariin groups by intragastrical administration of icariin at 20, 40 and 80 mg/kg-1, respectively, for 30 successive days. Then we obtained the weight and visceral coefficients of the reproductive organs, calculated the sperm count, observed the pathological changes in the testis tissue by HE staining, measured the serum testosterone (T) level by ELISA, determined the indexes of testicular oxidative stress and nitric oxide (NO) signaling pathway by colorimetric assay, and detected the expression levels of the pro-apoptotic genes Fas and Bax by qRT-PCR.
RESULTS:
CCK-8 assay confirmed that icariin had no toxic effect on the isolated Leydig cells of the mice, and could effectively reduce busulfan- and CP-induced cytotoxicity and promote the secretion of serum T. Icariin at 80 mg/kg significantly increased the visceral coefficient of the testis and promoted spermatogenesis (P<0.05), but had little effect on the visceral coefficient of the epididymis in the RFD model mice. Testicular histomorphometric observation revealed significantly improved testis structure, intact boundary membrane of seminiferous tubules and increased numbers of various types of spermatogenic cells of the model mice after treated with icariin. Compared with the mice in the model control group, those treated with high-dose icariin showed a significantly reduced content of malondialdehyde (MDA) (by 35.3%, P<0.01), elevated total antioxidant capacity (TAOC) and superoxide dismutase (T-SOD) activity (P<0.05), and decreased NO content and nitric oxide synthase (NOS) activity in the testis tissue (P<0.01). In addition, icariin exhibited an evident inhibitory effect on the expressions of the pro-apoptotic genes Bax and Fas.
CONCLUSION
Icariin can ameliorate oxidative stress-induced damage to the testicular function and protect spermatogenesis of male mice by elevating TAOC, decreasing NOS activity, inhibiting the NO level in the testis, and suppressing busulfan- and CP-induced apoptosis of testicular cells.
Animals
;
Male
;
Cyclophosphamide/adverse effects*
;
Mice
;
Busulfan/adverse effects*
;
Flavonoids/pharmacology*
;
Leydig Cells/drug effects*
;
Oxidative Stress/drug effects*
;
Testis/drug effects*
;
Apoptosis/drug effects*
;
Testosterone/blood*
10.Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella.
Yao-Qi CHEN ; Li-Qi XU ; Yi-Bo DAI ; Liang-Yu YAO ; Shen-Ming YANG ; Lu-Yu HUANG ; Xi YANG ; Yi YU ; Jing-Ming YANG ; Ke-Rong WU
National Journal of Andrology 2025;31(5):395-402
OBJECTIVE:
The aim of this study is to analyze the clinical features and genetic etiology of a patient with multiple morphological abnormalities of the sperm flagella (MMAF) retrospectively.
METHODS:
A severely oligospermic patient from the Reproductive Center of the First Affiliated Hospital of Ningbo University was selected as the study subject. Clinical data and examination results were collected. High-throughput sequencing and bioinformatics were used to analyze the genetic etiology. And Sanger sequencing was employed to validate findings in the family. Transmission electron microscopy (TEM) was used to observe the sperm ultrastructure, and immunofluorescence analysis was performed to examine the localization of FSIP2 protein in the sperm.
RESULTS:
The patient presented with severe oligospermia, and sperm morphology displayed MMAF. TEM revealed fibrous sheath and 9+2 microtubule structural disruptions in the sperm. Sequencing identified compound heterozygous variants in the FSIP2 gene (c.17798C > T, c.5927T > G), inherited from the father and mother, respectively. According to the guidelines of the American College of Medical Genetics and Genomics, the variants were classified as pathogenic. The patient's spouse underwent intracytoplasmic single sperm injection, resulting in one embryo, but no clinical pregnancy occurred after embryo transfer.
CONCLUSION
This study reported the mutation of FSIP2 gene c.17798C > T, c.5927T > G in a patient with MMAF. These findings expand the mutational spectrum of the FSIP2 gene and provide insights for genetic and assisted reproductive counseling for patients with MMAF.
Humans
;
Male
;
Sperm Tail/pathology*
;
Heterozygote
;
Oligospermia/genetics*
;
Spermatozoa
;
Mutation
;
Infertility, Male/genetics*
;
Adult
;
Pedigree
;
Retrospective Studies
;
Sperm Injections, Intracytoplasmic

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