1.Isotemporal substitution analysis of 24 hour activity behaviors on fine motor development among preschool children
ZHANG Chu an, WEN Lei, FU Jinmei, ZHANG Zhiyu, ZHANG Shuna, WEN Xinghui, ZHAO Guanggao
Chinese Journal of School Health 2026;47(3):413-416
Objective:
To investigate the relationship between 24 hour activity behaviors and fine motor development in preschool children, and to simulate the effects of reallocating time among different activity behaviors on fine motor development using isotemporal substitution analysis.
Methods:
From March to July 2022, a stratified cluster random sampling method was used to recruit 447 preschool children aged 3-6 years (254 boys and 193 girls) from Pingxiang City, Jiangxi Province. The 24 hour activity behaviors in preschool children were measured using ActiGraph wGT3-BT accelerometers and subjective sleep reports. Fine motor development was assessed using the Gesell Developmental Schedules. A component linear regression model was employed to analyze the impact of 24 hour activity behaviors on the development of fine motor activities, and the potential effects of adjusting activity behaviors were simulated through an isochoric substitution model.
Results:
The daily durations of sedentary behavior (SB) was ( 572.92 ±102.96) min (accounting for 39.79% of 24 h), the duration of light physical activity (LPA) was (131.21± 38.11 ) min ( 9.11% ), the duration of moderate to vigorous physical activity (MVPA) was (65.61±22.21) min (4.56%), and sleep duration was (670.65±57.58) min (46.82%). Sleep composition was positively associated with fine motor development ( β =2.74), while MVPA ( β =-0.84) and SB ( β =-1.93) compositions were negatively associated with fine motor development (all P <0.01). Isochoric substitution analysis showed that sleep had positive effects on the development of fine motor skills when replacing other activity behaviors (all P < 0.05), with the substitution effect for MVPA being the most significant and gradually increasing with the duration of substitution (60 min: β =28.66); sleep replacement of SB and LPA also showed positive effects (60 min: β =4.25, 2.00) (all P < 0.05). On the contrary, the substitution of sleep with MVPA showed negative effects (60 min: β =-7.86), and the substitution of LPA and SB with MVPA also showed negative effects (60 min: β =-5.65, -3.40) (all P <0.05).
Conclusions
The overall composition of 24 hour activity behaviors is associated with fine motor development in preschool children, with sleep playing a crucial role. Ensuring adequate sleep and optimizing the structure of activity behaviors may effectively promote the development of fine motor skills in preschool children.
2.Correlation between spinal sagittal imbalance and knee joint parameters detected by whole-body EOS imaging
Feng ZHOU ; Pengfei FU ; Yufan QIAN ; Pingcheng XU ; Jiongjiong GUO ; Lei ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(3):596-603
BACKGROUND:With changing lifestyles and aging,sagittal spinal imbalance has become a common orthopedic issue significantly affecting knee and pelvic function.Understanding the impact of sagittal spinal imbalance and its compensatory mechanisms is crucial for improving the clinical management of chronic pain.OBJECTIVE:To evaluate the alignment of the spine-pelvis-lower extremities using whole-body EOS imaging,analyze the correlation between spinal sagittal imbalance and knee joint parameters,and explore their compensatory mechanisms.METHODS:A total of 71 patients with chronic low back pain or patellofemoral pain who visited Department of Orthopedics,First Affiliated Hospital of Soochow University between January 1,2021 and December 31,2023 were included.Radiographic measurements were performed using whole-body EOS to determine pelvic tilt,pelvic incidence,lumbar lordosis,sagittal vertical axis,global tilt,hip-knee-angle,knee flexion angle,lateral distal femoral angle,and medial proximal tibial angle.Patients were classified into normal group(pelvic incidence-lumbar lordosis<10°),compensated group(10°<pelvic incidence-lumbar lordosis<20°),and decompensated group(pelvic incidence-lumbar lordosis>20°)based on the SRS-Schwab spinal deformity classification according to pelvic incidence-lumbar lordosis difference.The differences in radiographic parameters among the groups were analyzed.The differences in American Knee Society Knee Score and Oswestry Disability Index scores were compared among each group.Patients were divided into chronic low back pain group and non-chronic low back pain group,patellofemoral pain group and non-patellofemoral pain group based on clinical symptoms,and the relationship between radiographic parameter differences and clinical symptoms was analyzed.RESULTS AND CONCLUSION:(1)When pelvic incidence-lumbar lordosis was less than 20°,lateral distal femoral angle and medial proximal tibial angle tended to stabilize.When pelvic incidence-lumbar lordosis was greater than 20°,it showed a linear correlation with lateral distal femoral angle and medial proximal tibial angle,with lateral distal femoral angle increasing and medial proximal tibial angle decreasing with increasing pelvic incidence-lumbar lordosis values.(2)Compared with the normal group,the compensated group had significantly increased pelvic tilt(P<0.01),while knee joint parameters hip-knee-angle and knee flexion angle showed no significant differences;the decompensated group showed significant increases in pelvic tilt(P<0.01),and decreases in hip-knee-angle,and knee flexion angle(P<0.01).Compared with the compensated group,the decompensated group showed a significant decrease in hip-knee-angle(P<0.05),but had no significant differences in pelvic tilt and knee flexion angle.(3)Compared with the non-patellofemoral pain group,patients with patellofemoral pain had significant decreases in spinal lumbar lordosis,lateral distal femoral angle,and medial proximal tibial angle(P<0.05)and a significant increase in pelvic incidence-lumbar lordosis(P<0.05).(4)Patients with low back pain had significant differences in radiographic parameters compared with the non-chronic low back pain group(P<0.05).(5)Compared with the normal group,both the compensated and decompensated groups showed a significant decrease in American Knee Society Knee Score scores and a significant increase in Oswestry Disability Index scores(P<0.05).Compared with the compensated group,the decompensated group showed a significant decrease in American Knee Society Knee Score scores and a significant increase in Oswestry Disability Index scores(P<0.05).(6)Pelvic incidence-lumbar lordosis values increased with age and were higher in females compared with males.(7)This study systematically reveals the spine and lower limbs play an important role in disease progression and clinical symptoms.Associated symptoms low back pain and patellofemoral pain are related to the stability of the spine-pelvis-lower extremity alignment.Furthermore,spinal sagittal imbalance is more severe in elderly and female patients.
3.Correlation between spinal sagittal imbalance and knee joint parameters detected by whole-body EOS imaging
Feng ZHOU ; Pengfei FU ; Yufan QIAN ; Pingcheng XU ; Jiongjiong GUO ; Lei ZHANG
Chinese Journal of Tissue Engineering Research 2026;30(3):596-603
BACKGROUND:With changing lifestyles and aging,sagittal spinal imbalance has become a common orthopedic issue significantly affecting knee and pelvic function.Understanding the impact of sagittal spinal imbalance and its compensatory mechanisms is crucial for improving the clinical management of chronic pain.OBJECTIVE:To evaluate the alignment of the spine-pelvis-lower extremities using whole-body EOS imaging,analyze the correlation between spinal sagittal imbalance and knee joint parameters,and explore their compensatory mechanisms.METHODS:A total of 71 patients with chronic low back pain or patellofemoral pain who visited Department of Orthopedics,First Affiliated Hospital of Soochow University between January 1,2021 and December 31,2023 were included.Radiographic measurements were performed using whole-body EOS to determine pelvic tilt,pelvic incidence,lumbar lordosis,sagittal vertical axis,global tilt,hip-knee-angle,knee flexion angle,lateral distal femoral angle,and medial proximal tibial angle.Patients were classified into normal group(pelvic incidence-lumbar lordosis<10°),compensated group(10°<pelvic incidence-lumbar lordosis<20°),and decompensated group(pelvic incidence-lumbar lordosis>20°)based on the SRS-Schwab spinal deformity classification according to pelvic incidence-lumbar lordosis difference.The differences in radiographic parameters among the groups were analyzed.The differences in American Knee Society Knee Score and Oswestry Disability Index scores were compared among each group.Patients were divided into chronic low back pain group and non-chronic low back pain group,patellofemoral pain group and non-patellofemoral pain group based on clinical symptoms,and the relationship between radiographic parameter differences and clinical symptoms was analyzed.RESULTS AND CONCLUSION:(1)When pelvic incidence-lumbar lordosis was less than 20°,lateral distal femoral angle and medial proximal tibial angle tended to stabilize.When pelvic incidence-lumbar lordosis was greater than 20°,it showed a linear correlation with lateral distal femoral angle and medial proximal tibial angle,with lateral distal femoral angle increasing and medial proximal tibial angle decreasing with increasing pelvic incidence-lumbar lordosis values.(2)Compared with the normal group,the compensated group had significantly increased pelvic tilt(P<0.01),while knee joint parameters hip-knee-angle and knee flexion angle showed no significant differences;the decompensated group showed significant increases in pelvic tilt(P<0.01),and decreases in hip-knee-angle,and knee flexion angle(P<0.01).Compared with the compensated group,the decompensated group showed a significant decrease in hip-knee-angle(P<0.05),but had no significant differences in pelvic tilt and knee flexion angle.(3)Compared with the non-patellofemoral pain group,patients with patellofemoral pain had significant decreases in spinal lumbar lordosis,lateral distal femoral angle,and medial proximal tibial angle(P<0.05)and a significant increase in pelvic incidence-lumbar lordosis(P<0.05).(4)Patients with low back pain had significant differences in radiographic parameters compared with the non-chronic low back pain group(P<0.05).(5)Compared with the normal group,both the compensated and decompensated groups showed a significant decrease in American Knee Society Knee Score scores and a significant increase in Oswestry Disability Index scores(P<0.05).Compared with the compensated group,the decompensated group showed a significant decrease in American Knee Society Knee Score scores and a significant increase in Oswestry Disability Index scores(P<0.05).(6)Pelvic incidence-lumbar lordosis values increased with age and were higher in females compared with males.(7)This study systematically reveals the spine and lower limbs play an important role in disease progression and clinical symptoms.Associated symptoms low back pain and patellofemoral pain are related to the stability of the spine-pelvis-lower extremity alignment.Furthermore,spinal sagittal imbalance is more severe in elderly and female patients.
4.A study on the formation of ulcerated plaque of carotid bifurcation geometry and hemodynamic characteristics based on CT angiography
Mingshan CHEN ; Wenyu ZHANG ; Lei REN ; Yu GUO ; Dingwei FU ; Shuang XIA
Chinese Journal of Radiology 2025;59(6):696-703
Objective:To investigate the impact of geometric morphology and hemodynamic characteristics at the carotid bifurcation on the formation of ulcerated plaques based on CT angiography(CTA).Methods:This was a cross-sectional study. The clinical and imaging data of 71 patients with carotid bifurcation atherosclerotic plaques (stenosis≥50%) confirmed by cranial and cervical CTA at Tianjin TEDA Hospital from July 2020 to October 2023 were retrospectively analyzed. Patients were divided into an ulcerated plaque group (32 cases) and a non-ulcerated plaque group (39 cases) based on plaque ulceration status. The CTA technique was used to assess the geometric parameters of the carotid bifurcation [such as the bifurcation angle, the angle between the common carotid artery and internal carotid artery (CCA-ICA), the proximal curvature angle of the internal carotid artery (ICA), and the ratio of the maximum area at the carotid bifurcation to the initial area of the carotid artery (CCAMAX/CCA)] and plaque characteristic parameters [such as plaque area at the site of stenosis, maximum wall thickness, remodeling ratio, eccentricity index, and presence of calcification within plaques]. Quantitative analysis of hemodynamic parameters in the plaque region was performed using finite-element analysis software, including time-averaged wall shear stress (TAWSS), transverse wall shear stress (transWSS), relative residence time (RRT), and oscillatory shear index (OSI). Comparisons of parameters between the two groups were conducted using the Mann-Whitney U test or χ2 test, and multivariate logistic regression analysis was employed to identify independent geometric and plaque characteristic factors influencing the formation of ulcerated plaques. A combined model incorporating hemodynamic, geometric, and plaque characteristic parameters was developed, and the efficacy of this combined model in predicting ulceration formation at the carotid bifurcation was evaluated using receiver operating characteristic curves and the area under the curve (AUC). Results:The bifurcation angle, CCA-ICA angle, proximal ICA curvature angle, CCAMAX/CCA ratio, presence of calcification within plaques, plaque area at the site of stenosis, and maximum wall thickness exhibited statistically significant differences between the ulcerated plaque group and the non-ulcerated plaque group ( P<0.05). Logistic regression analysis showed that CCAMAX/CCA ( OR=6.452, 95% CI 1.541-27.015, P=0.011) and plaque area at the site of stenosis ( OR=1.048, 95% CI 1.015-1.124, P=0.011) were independent factors influencing the formation of ulcerated plaques at the carotid bifurcation. The maximum and mean values of RRT and OSI in the ulcerated plaque group were significantly higher than those in the non-ulcerated group ( P<0.05), while the maximum and mean values of transWSS and TAWSS were lower in the ulcerated group compared to the non-ulcerated group ( P<0.05). The AUC for the combined model predicting ulceration formation at the carotid bifurcation was 0.926. Conclusions:The CCAMAX/CCA ratio and plaque area at the site of stenosis at the carotid bifurcation are independent factors influencing the formation of ulcerated plaques. A model that combines geometric morphology and hemodynamic parameters can more effectively diagnose the formation of ulcerated plaques at the carotid bifurcation.
5.Clinical application of dermatoscope combined with rapid frozen section examination in the treatment of head and facial skin tumors
Xuefeng FU ; Lei ZENG ; Yuan JIANG ; Meiyan WANG ; Bingjing JIANG ; Yanfei ZHANG
China Modern Doctor 2025;63(13):19-22
Objective To evaluate the application value of dermatoscope combined with rapid frozen section examination in the treatment of head and facial skin tumors.Methods A retrospective analysis was performed on 123 patients with head and facial skin masses admitted to Affiliated Jinhua Hospital,Zhejiang University School of Medicine from June 2019 to December 2023.Patients were divided into two groups according to their wishes.Patients in group A underwent preoperative dermoscopy combined with intraoperative rapid frozen section examination,and patients in group B underwent preoperative skin biopsy combined with intraoperative rapid frozen section examination.The diagnostic accuracy of two methods was compared.Results There were 81 patients in group A,including 39 basal cell carcinoma,25 squamous cell carcinoma,8 solar keratosis,5 seborrheic keratosis and 4 verrucous nevus.There were 42 patients in group B,including 25 basal cell carcinoma,13 squamous cell carcinoma and 4 solar keratosis.Both groups of patients successfully completed the operation,postoperative follow-up 6 months no recurrence.The accuracy of dermoscopy in the diagnosis of head and facial skin masses was 91.36%,and the accuracy of skin biopsy was 100%.There was no statistical significance between them(x2=2.407,P=0.121).Conclusion In surgical treatment of head and facial skin tumors,the diagnostic accuracy of preoperative dermoscopy combined with intraoperative rapid frozen section examination is high,and it is worthy of clinical promotion.
6.Screening prognosis-related genes and predictive model constructing for lung adenocarcinoma
Zhixin ZHANG ; Lei FU ; Mengxue WANG ; Yi ZOU ; Liyan WEN ; Bo XIAO
China Modern Doctor 2025;63(14):1-5
Objective To explore the prognosis-related genes of lung adenocarcinoma(LUAD)and establish a prognostic prediction model for LUAD.Methods The differentially expressed genes of LUAD tissues and adjacent normal tissues in the GSE43458,GSE7670,and GSE140797 datasets were screened.The protein-protein interaction(PPI)network analysis,gene ontology(GO)function,Kyoto Encyclopedia of Genes and Genomes(KEGG)signaling pathway enrichment analyses,least absolute shrinkage and selection operator for prognosis coefficient screening,disease-specific survival analysis,Cox regression analysis,and gene correlation analysis were performed.Independent prognostic genes of LUAD were screened from the differential genes,and a prognostic prediction model of LUAD was established.The expression of independent prognostic genes was analyzed,and the predictive model was evaluated by receiver operating characteristic(ROC)curve.The GSE68465 data set was used as an external validation set to verify the predictive model.Results There were 197 up-regulated differential genes and 77 down-regulated differential genes in LUAD and adjacent normal tissues common to the three datasets.Through stepwise screening,two genes,IL7R and SLC2A1,were identified as independent prognostic factors for LUAD.IL7R was an independent protective factor,while the SLC2A1 was an independent risk factor.A prediction model for curve was built with IL7R and SLC2A1.The prediction model for LUAD constructed with IL7R and SLC2A1 is as follows:Risk score=(-0.694)×expression level of IL7R+0.763×expression level of SLC2A1.Conclusion This study screened out IL7R as an independent prognostic protective factor for LUDA,and SLC2A1 as an independent prognostic risk factor for LUAD.The LUDA prediction model constructed based on these two genes has good predictive ability and generalization ability,which can provide references for the research and clinical individualized treatment of LUAD.
7.A multicenter clinical study on intramedullary vancomycin injection for preventing periprosthetic joint infection in total knee arthroplasty
Te LIU ; Jun FU ; Shiguang LAI ; Zhuo ZHANG ; Chi XU ; Lei GENG ; Yang LUO ; Peng REN ; Xin ZHI ; Quanbo JI ; Heng ZHANG ; Runkai ZHAO ; Haichao REN ; Ye TAO ; Qingyuan ZHENG ; Zeyu FENG ; Jianfeng YANG ; Yiming WANG ; Pengcheng LI ; Shuai LIU ; Wei CHAI ; Xiang LI ; Huiwu LI ; Xiaogang ZHANG ; Baochao JI ; Xianzhe LIU ; Xinzhan MAO ; Jianbing MA ; Xiangxiang SUN ; Jiying CHEN ; Yonggang ZHOU ; Jinliang WANG ; Weijun WANG ; Guoqiang ZHANG ; Ming NI
Chinese Journal of Orthopaedics 2025;45(12):803-811
Objective:To explore the safety and efficacy of intraosseous regional administration (IORA) of vancomycin for preventing infection in primary total knee arthroplasty (TKA).Methods:A total of 124 patients with knee osteoarthritis undergoing TKA between February 2024 and May 2024 at nine hospitals were enrolled. Preoperative infection prophylaxis involved either IORA (0.5 g vancomycin administered via intraosseous regional infusion before incision) or intravenous infusion (1 g vancomycin via peripheral vein). The IORA group included 15 males and 47 females with a median age of 66.5 years (range, 60.0-70.0 years), while the intravenous group included 14 males and 48 females with a median age of 66.0 years (range, 61.8-70.3 years) years. Intraoperative samples were collected including fat and synovium tissues after incision, before prosthesis placement, and after tourniquet release; distal femoral cancellous bone during femoral osteotomy; proximal tibial cancellous bone during tibial osteotomy; proximal intercondylar cancellous bone before prosthesis placement; and peripheral blood from non-infused arms at surgery initiation and after tourniquet release. Vancomycin concentrations were measured using liquid chromatography-tandem mass spectrometry. Vital sign changes were recorded from admission to 5~10 minutes post-IORA (IORA group) or post-incision (intravenous group). Follow-ups were conducted on postoperative day 1 and 3, and at 1 and 3 months, to document complications including IORA-related adverse events, periprosthetic joint infections, surgical site infections, red man syndrome, acute kidney injury, deep vein thrombosis and so on.Results:Vancomycin concentrations in bone, fat, and synovial tissue samples were significantly higher in the IORA group than in the intravenous group ( P<0.05), while vancomycin concentrations in blood samples were significantly lower in the IORA group than in the intravenous group ( P<0.05). Only 7.3%(41/558) of tissue samples in the IORA group had vancomycin concentrations below 2.0 μg/g (the minimum inhibitory concentration of vancomycin against coagulase-negative staphylococcus), compared to 59.3%(331/558) in the intravenous group (χ 2=11.285, P<0.001). In the intravenous group, 16.9%(21/124) of blood samples had vancomycin concentrations exceeding 15.0 mg/L (the threshold associated with a significantly increased risk of nephrotoxicity), while all concentrations in the IORA group were below this threshold, the difference was statistically significant (χ 2=22.943, P<0.001). There were no statistically significant difference ( P>0.05) in vital signs changes before and after vancomycin administration between the two groups. Two patients in the intravenous group experienced incision exudate, while no other related complications occurred in either group. Conclusions:Compared to the traditional intravenous infusion of 1 g vancomycin, intraosseous injection of a low dose (0.5 g) of vancomycin achieves higher local tissue concentrations in the knee joint with a lower incidence of adverse reactions and is safe for infection prophylaxis. Despite guidelines not recommending the routine use of vancomycin for preventing infection after primary TKA, intraosseous injection of 0.5 g vancomycin may be considered intraoperatively for primary TKA in the following scenarios: patients in medical institutions with a high prevalence of methicillin-resistant staphylococcus aureus (MRSA) infections, patients with potential preoperative MRSA colonization, or patients with cephalosporin allergy.
8.Machine learning models established to distinguish OA and RA based on immune factors in the knee joint fluid.
Qin LIANG ; Lingzhi ZHAO ; Yan LU ; Rui ZHANG ; Qiaolin YANG ; Hui FU ; Haiping LIU ; Lei ZHANG ; Guoduo LI
Chinese Journal of Cellular and Molecular Immunology 2025;41(4):331-338
Objective Based on 25 indicators including immune factors, cell count classification, and smear results of the knee joint fluid, machine learning models were established to distinguish between osteoarthritis (OA) and rheumatoid arthritis (RA). Methods 100 OA and 40 RA patients scheduled for total knee arthroplasty were enrolled respectively. Each patient's knee joint fluid was collected preoperatively. Nucleated cells were counted and classified. The expression levels of immune factors, including tumor necrosis factor alpha (TNF-α), interleukin-1 beta (IL-1β), IL-6, IL-8, IL-15, matrix metalloproteinase 3 (MMP3), MMP9, MMP13, rheumatoid factor (RF), serum amyloid A (SAA), C-reactive protein (CRP), and others were measured. Smears and microscopic classification of all the immune factors were performed. Independent influencing factors for OA or RA were identified using univariate binary logistic regression, Lasso regression, and multivariate binary logistic regression. Based on the independent influencing factors, three machine learning models were constructed which are logistic regression, random forest, and support vector machine. Receiver operating characteristic curve (ROC), calibration curve and decision curve analysis (DCA) were used to evaluate and compare the models. Results A total of 5 indicators in the knee joint fluid were screened out to distinguish OA and RA, which were IL-1β(odds ratio(OR)=10.512, 95× confidence interval (95×CI) was 1.048-105.42, P=0.045), IL-6 (OR=1.007, 95×CI was 1.001-1.014, P=0.022), MMP9 (OR=3.202, 95×CI was 1.235-8.305, P=0.017), MMP13 (OR=1.002, 95× CI was 1-1.004, P=0.049), and RF (OR=1.091, 95×CI was 1.01-1.179, P=0.026). According to the results of ROC, calibration curve and DCA, the accuracy (0.979), sensitivity (0.98) and area under the curve (AUC, 0.996, 95×CI was 0.991-1) of the random forest model were the highest. It has good validity and feasibility, and its distinguishing ability is better than the other two models. Conclusion The machine learning model based on immune factors in the knee joint fluid holds significant value in distinguishing OA and RA. It provides an important reference for the clinical early differential diagnosis, prevention and treatment of OA and RA.
Humans
;
Arthritis, Rheumatoid/metabolism*
;
Machine Learning
;
Male
;
Female
;
Middle Aged
;
Aged
;
Synovial Fluid/immunology*
;
Osteoarthritis, Knee/metabolism*
;
Knee Joint/metabolism*
;
ROC Curve
;
Diagnosis, Differential
9.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
10.Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.
Hao-Wei BAI ; Na LI ; Yu-Xiang ZHANG ; Jia-Qiang LUO ; Ru-Hui TIAN ; Peng LI ; Yu-Hua HUANG ; Fu-Rong BAI ; Cun-Zhong DENG ; Fu-Jun ZHAO ; Ren MO ; Ning CHI ; Yu-Chuan ZHOU ; Zheng LI ; Chen-Cheng YAO ; Er-Lei ZHI
Asian Journal of Andrology 2025;27(2):268-275
Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA.
Humans
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Male
;
Azoospermia/genetics*
;
Meiosis/genetics*
;
Spermatogenesis/genetics*
;
Adult
;
Exome Sequencing
;
Microtubule-Associated Proteins/genetics*
;
Alleles
;
Infertility, Male/genetics*


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