1.Study of risk prediction model of metabolic dysfunction associated steatotic liver disease among children and adolescents
XIANG Fanying, NA Xiaona, AN Xizhou, CHEN Lijing, ZHONG Haiying, LIANG Xiaohua, CHEN Jingyu
Chinese Journal of School Health 2026;47(4):475-479
Objective:
To construct a risk prediction model for pediatric metabolic dysfunction associated steatotic liver disease (MASLD), so as to provide practical tool for the early identification of high risk children.
Methods:
A healthy cohort of children in Southwest China was established from January 2021 to April 2025. A nested case-control study design was used to include 507 cases MASLD group and 507 cases in non MASLD group. Data on physical measurements, blood biochemical parameters, and liver ultrasound indicators were collected. Conditional Logistic regression was used to analyze the relationship between individual variables and MASLD, Lasso regression was applied for multivariable screening, and a high risk prediction model was constructed and presented in the form of a nomogram. Internal validation was performed using 10 repeated ten fold cross validations to assess model discrimination, accuracy, sensitivity, and specificity.
Results:
Logistic regression analysis showed that MASLD was associated with central obesity ( OR=22.11, 95%CI =15.62-31.29), apolipoprotein B ( OR=30.24, 95%CI =12.42-73.63), increased hepatorenal echo ( OR=326.00, 95%CI =183.87-578.01), hepatomegaly ( OR=24.98, 95%CI =16.66-37.46) (all P <0.05). The Lasso regression jointly selected 6 key variables, including hepatorenal echo, central obesity, hepatomegaly, right liver lobe inclination, body mass index, and alanine amino transferase. The results of cross validation showed that the average area under the curve (AUC) was 0.999 5, the average accuracy was 98.74%, and the sensitivity and specificity were 98.21% and 99.22% respectively, indicating a good predictive effect of the model.
Conclusion
The risk prediction model for high risk MASLD among children based on ultrasound and clinical indicators has good prediction effect, which is helpful for the early identification and risk stratification of pediatric MASLD.
2.Research on erythrocyte-liposome drug delivery system for targeted therapy of lung metastatic triple-negative breast cancer
Xiang LI ; Xunyi YOU ; Xiaocheng LI ; Hong WANG ; Rui ZHONG ; Jiaxin LIU ; Limin CHEN ; Ye CAO
Chinese Journal of Blood Transfusion 2026;39(2):180-187
Objective: To prepare the erythrocyte-liposome drug delivery system to enhance the therapeutic effect of drugs on tumors and inhibit tumor metastasis. Methods: This study prepared and characterized paclitaxel (PTX)-plerixafor (AMD3100) liposomes (Lips), developed the erythrocyte-liposome drug delivery system, and evaluated its targeting efficiency and therapeutic efficacy through a series of in vitro cellular and in vivo animal experiments. Results: The particle size of PTX-AMD-Lips was (186.4±0.83) nm. Drug encapsulation efficiency of PTX-AMD-Lips was (75.50±5.27)% for PTX and (88.31±2.45)% for AMD. The Binding efficiency between RBC and liposomes in the drug delivery system was (69.93±2.55)%. Vitro cellular experiments revealed that PTX-AMD-Lips significantly inhibited tumor cell migration. In vivo animal experiments, the erythrocyte-liposome drug delivery system significantly increased drug accumulation in the lungs. At the experimental endpoint, the quantitative fluorescence signal of tumor size measured (4.04±0.44)×10
for the PTX-Lips group, and (5.14±3.40)×10
for the RBC-PTX-AMD-Lips group. Conclusion: The erythrocyte-liposome drug delivery system could enhance the lung-specific targeting capability of liposomes, kill tumor cells and suppress further metastasis effectively.
3.Analysis of the results from the 2024 national interlaboratory comparison for radionuclide measurement in bio-ash
Chunming ZHONG ; Xiang GAO ; Jin ZHANG ; Xin ZHANG ; Yuqi HUANG
Chinese Journal of Radiological Health 2026;35(3):331-335
Objective To enhance the gamma spectrometry analysis and detection capabilities of personnel in measuring radionuclides in bio-ash, and ensure the accuracy and precision of gamma spectrometer in our laboratory for the analysis of radionuclides in bio-ash. Methods The laboratory participated in the 2024 national interlaboratory comparison for radionuclide measurement in bio-ash. Radionuclides 241Am, 137Cs, and 40K in four different bio-ash samples were measured. Based on the measurement methods specified in GB/T 16145—2022, sample measurement, result calculation, and uncertainty evaluation were performed using spectrometry analysis software and sourceless efficiency calibration software. The measurement results and performance evaluation of the laboratory in the comparison were analyzed, and factors affecting gamma-spectrometry measurement and result interpretation were discussed. Results The relative deviation (D) of the measurement results for radionuclides 241Am and 137Cs in the four bio-ash samples ranged from −10.2% to 2.0% and −1.7% to 0.3%, respectively. The P statistic ranged from 7.0% to 12.5% and 5.0% to 10.8%, respectively. These results met the criteria of |D| ≤ 20% (MARB), |D| ≤ 2.58P, and P ≤ 20% (MARB). The ζ-scores for the measurement of 40K in the four bio-ash samples ranged from 0.8 to 1.3, satisfying the criterion of |ζ| < 2. All measurement results in this laboratory in the comparison were satisfactory. Conclusion The laboratory uses a high-purity germanium gamma spectrometer to measure radionuclides in bio-ash. The self-absorption correction method, analysis method, and uncertainty evaluation are appropriate, which can ensure the accuracy and precision of the measurement results. The measurement results are accurate and reliable.
4.Expression characteristics of placental steroidogenic enzymes in preeclampsia
Zixi CHEN ; Guotai SUN ; Haining JIAO ; Fenfen XIANG ; Zhengrong ZHONG ; Rong WU
Acta Universitatis Medicinalis Anhui 2026;61(6):1082-1090
ObjectiveTo investigate the expression patterns of key steroidogenic enzymes (CYP11A1, HSD3B1, and CYP19A1) in placental tissues from preeclampsia (PE) patients and evaluate their potential as biomarkers for PE. MethodsA case-control study was conducted using placental tissues from PE patients (PE group, n=3) and normotensive pregnant women (control group, n=3). RNA sequencing was performed to identify differentially expressed genes (DEGs), followed by validation of target gene expression using Western blot, qRT-PCR, and immunohistochemistry. Steroid hormone levels in placental tissues and serum were measured by ELISA. Spearman correlation analysis was used to assess associations between protein expression and clinical parameters, and receiver operating characteristic (ROC) curve analysis was performed to evaluate the predictive value of target genes for PE. ResultsThe results showed that 501 DEGs (P<0.05 and |Log2Fold Change| >1) were identified in PE placental tissues, with KEGG enrichment analysis revealing significant involvement in steroid hormone biosynthesis pathways. Compared with the control group, PE placental tissues exhibited significantly decreased protein and mRNA expression of HSD3B1 and CYP19A1 (P<0.01), while CYP11A1 expression was upregulated (P<0.05). Serum estradiol (E2) and progesterone (P4) levels were significantly reduced in the PE group (P<0.01), whereas testosterone (T) levels were elevated (P<0.05). Correlation analysis demonstrated that CYP11A1 expression was positively associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and soluble fms-like tyrosine kinase-1 (sFlt-1) (P<0.01), but negatively correlated with placental growth factor (PLGF) (P<0.01). Conversely, HSD3B1 and CYP19A1 expression showed inverse correlations with these clinical parameters (P<0.01). ROC analysis revealed that CYP11A1, HSD3B1, and CYP19A1 each had an area under the curve (AUC) of 0.778 for predicting PE, with 95%CI ranging from 0.614 to 0.942 (P=0.004). The sensitivity was 94.4%, and the specificity was 66.7%. ConclusionThese findings suggest that dysregulated expression of steroidogenic enzymes in PE placental tissues contributes to hormonal imbalance, thereby playing a role in PE pathogenesis. Furthermore, CYP11A1, HSD3B1, and CYP19A1 may serve as potential diagnostic biomarkers for PE.
5.Comparison of short-term clinical efficacy between CO external fixation and internal fixation with steel plate in the treatment of unstable distal radius fractures.
Min-Rui FU ; Chang-Long SHI ; Yong-Zhong CHENG ; Ming-Ming MA ; Zheng-Lin NIU ; Hai-Xiang SUN ; Jing-Hua GAO ; Zhong-Kai WU ; Yi-Ming XU
China Journal of Orthopaedics and Traumatology 2025;38(1):10-17
OBJECTIVE:
To evaluate the short-term clinical efficacy of external fixation and internal fixation with steel plate in the treatment of unstable distal radius fractures (AO-23C type), based on the principles of Chinese osteosynthesis (CO).
METHODS:
Forty-eight patients with unstable distal radius fractures between January 2022 and February 2023 were retrospectively analyzed and divided into the CO external fixation group and internal fixation group. CO external fixation group consisted of 25 patients, including 7 males and 18 females, aged from 37 to 56 years old with an average of ( 52.6±11.3) years old. Among them, there were 7 patients of traffic accidents and 18 patients of falls, resulting in a total of 25 patients of closed fractures and no open fractures, the treatment was conducted using closed reduction and CO external fixation. The internal fixation group consisted of 23 patients, comprising 8 males and 15 females, age ranged from 41 to 59 years old, with an average age of(53.3±13.7) years old. Among them, 8 patients resulted from car accidents while the remaining 15 patients were caused by falls. All 23 patients were closed fractures without any open fractures observed. The technique of open reduction and internal fixation with steel plate was employed. The perioperative data, including injury-operation time, operation duration, blood loss, and length of hospital stay, were assessed in both groups. Additionally, the QuickDASH score and visual analogue scale (VAS) were evaluated. Range of motion and grip strength assessment, imaging findings such as palmar inclination angle, ulnar declination angle, radius length, articular surface step, intra-articular space measurements were also examined along with any complications.
RESULTS:
The follow-up duration ranged from 0 to 24 months, with an average duration of (16.0±3.8) months. The CO external fixation exhibited significantly shorter time from injury to operation (2.4±3.3) d vs (7.4±3.7) d, shorter operation duration (56.27±15.23) min vs (74.10±5.26) min, lower blood loss (14.52±6.54) ml vs (32.32±10.03) ml, and reduced hospitalization days (14.04±3.24 )d vs (16.45±3.05) d compared to the internal fixation group (P<0.05). The QuickDASH score at 12 months post-operation was (8.21±1.64) in the CO external fixation group, while no significant difference was observed in the internal fixation group (7.04±3.64), P>0.05. There were no statistically significant differences in VAS between two groups at 6 weeks, as well as 1 and 3 months post-surgery (P>0.05). Additionally, there were no significant disparities observed in terms of range of motion and grip strength between two groups at the 2-year follow-up after the operation (P>0.05). After 12 months of surgery, the CO external fixation group exhibited a significantly smaller palmar inclination angle (17.90±2.18) ° vs (19.87±3.21) °, reduced articular surface step (0.11±0.03) mm vs (0.17±0.02) mm, and shorter radius length (8.16±1.11) mm compared to the internal fixation group (9.59±1.02) mm, P<0.05. The ulnar deviation angle and intra-articular space did not show any significant difference between two groups (P>0.05). The reduced fell within the allowable range between the CO external fixation group (23 out of 25 cases) and the internal fixation group (21 out of 23 cases) was not statistically significant (P=0.29). There was no significant difference in complications between the two groups(P>0.05).
CONCLUSION
Both the CO external fixation and open reduction with plate internal fixation demonstrate clinical efficacy in managing unstable distal radius fractures. The CO external fixation offers advantages in shorter injury-to-operation times, reduced intraoperative blood loss, and decreased surgical durations, while radial shortening is more effectively controlled by internal fixation.
Humans
;
Male
;
Female
;
Middle Aged
;
Radius Fractures/physiopathology*
;
Adult
;
Bone Plates
;
Fracture Fixation, Internal/methods*
;
External Fixators
;
Retrospective Studies
;
Fracture Fixation/methods*
;
Wrist Fractures
6.Clinical efficacy of open reduction and internal fixation with plates versus minimally invasive Kirschner wire fixation for osteoporotic Colles' fractures.
Jun-Wei ZHANG ; Jin-Yong HOU ; Zhao-Hui LI ; Zhen-Yuan MA ; Xiang GAO ; Hong-Zheng BI ; Ling-Ling CHEN ; Hai-Tao WANG ; Wei-Zhi NIE ; Yong-Zhong CHENG ; Xiao-Bing XI
China Journal of Orthopaedics and Traumatology 2025;38(1):18-24
OBJECTIVE:
To compare the short-term clinical efficacy and safety of closed reduction with Kirschner wire fixation versus open reduction with plate fixation for treating osteoporotic Colles' fractures in middle-aged and elderly patients.
METHODS:
Between January 2018 and January 2023, 119 patients with Colles fractures were retrospectively analyzed, including 39 males and 80 females, aged from 48 to 74 years old with an average of(60.58±6.71) years old. The time from injury to operation ranged 1 to 13 days with an average of (5.29±2.52) days. According to the surgical method, they were divided into Kirschner wire fixation group (Kirschner wire group) and plate internal fixation group (plate group). In Kirschner wire group, there were a total of 68 patients, comprising 21 males and 47 females. The average age was (61.15±6.24) years old, ranged from 49 to 74 years old. Among them, 41 cases involved the left side while 27 cases involved the right side. In the plate group, there were a total of 51 patients, including 18 males and 33 females. The average age was (59.78±5.71) years old ranged from 48 to 72 years old. Among them, there were 31 cases on the left side and 20 cases on the right side. The following parameters were recorded before and after the operation:operation time, intraoperative blood loss, hospitalization days, hospitalization expenses, postoperative complications, and radiographic parameters of distal radius (distal radius height, ulnar deviation angle, palmar tilt angle). The clinical efficacy was evaluated at 3 and 12 months after the operation using Gartland-Werley and disabilites of the arm shoulder and hand (DASH) scores.
RESULTS:
The patients in both groups were followed up for a duration from 12 to 19 months with an average of(13.32±2.02) months. The Kirschner wire group exhibited significantly shorter operation time compared to the plate group 27.91(13.00, 42.00) min vs 67.52(29.72, 105.32) min, Z=-8.74, P=0.00. Intraoperative blood loss was also significantly lower in the Kirschner wire group than in the plate group 3.24(1.08, 5.40) ml vs 21.91(17.38, 26.44) ml, Z=-9.31, P=0.00. Furthermore, patients in the Kirschner wire group had a shorter length of hospital stay compared to those in the plate group (8.38±2.63) days vs (11.40±2.78) days, t=-3.12, P=0.00. Additionally, hospitalization cost was significantly lower in the Kirschner wire group than in the plate group 10 111.29(6 738.98, 13 483.60) yuan vs 15 871.11(11 690.40, 20 051.82) yuan, Z=-5.62, P=0.00. The incidence of complications was 2 cases in the Kirschner wire group and 1 case in the plate group, with no statistically significant difference(P>0.05). At 3 months postoprative, the radial height of the Kirschner wire group was found to be significantly smaller than that of the plate group, with measurements of (11.45±1.69) mm and (12.11±1.78) mm respectively (t=-2.06, P=0.04). However, there were no statistically significant differences observed in ulnar deviation angle and palmar tilt angle between the two groups (P>0.05). The DASH score and Gartland-Werley score in the Kirschner group were significantly higher than those in the plate group at 3 months post-operation (19.10±9.89) vs (13.47±3.51), t=4.34, P=0.00;(11.15±3.61) vs (6.41±2.75), t=8.13, P=0.00). However, there was no significant difference between the two groups at 12 months post-operation (P>0.05).
CONCLUSION
Compared to plate internal fixation, closed reduction with Kirschner wire support fixation yields a slightly inferior recovery of radial height;however, there is no significant disparity in the functional score of the affected limb at 12 months post-operation. Nonetheless, this technique offers advantages such as shorter operation time, reduced intraoperative blood loss, decreased hospitalization duration, and lower cost.
Humans
;
Female
;
Male
;
Middle Aged
;
Aged
;
Fracture Fixation, Internal/instrumentation*
;
Bone Wires
;
Bone Plates
;
Retrospective Studies
;
Colles' Fracture/surgery*
;
Minimally Invasive Surgical Procedures/methods*
;
Open Fracture Reduction/methods*
;
Osteoporotic Fractures/surgery*
7.Meta-analysis of the efficacy of plate fixation and external fixator fixation in the treatment of AO-C type distal radius fractures.
Guang-Yao LI ; Yong-Zhong CHENG ; Huan LIU ; Jun-Jie JIANG ; Yong-Yao LI ; Yang CHEN ; Yu-Xiang YAO
China Journal of Orthopaedics and Traumatology 2025;38(1):66-80
OBJECTIVE:
Meta-analysis of the clinical efficacy of plate and external fixator fixation in the treatment of AO-C type distal radius fractures.
METHODS:
PubMed, Embase, Cochrane Medical Library, Web of Science, CNKI, Wanfang, VIP and SinoMed databases were searched for all literature on randomized controlled clinical trials of AO-C distal radius fractures. The search time limits were from each database. The database will be established until June 30, 2023. The included studies were extracted according to the Cochrane Handbook (Version 6.3, 2022) for information extraction and literature quality evaluation. RevMan 5.4 was used to evaluate the risk of Publication bias, test heterogeneity and Perform Meta-analysis. The outcome indicators were:imaging anatomy indicators (volar inclination angle, ulnar deviation angle, radial height), wrist joint mobility (flexion, extension, rotation, ulnar deviation), complication rate, and comparison of surgical treatments (operative blood loss, operation time, hospitalization time, fracture healing time) and wrist joint function scores and related scales.
RESULTS:
(1) A total of 28 studies were included, with a total of 2 192 patients, including 1 096 cases in the plate internal fixation group and 1 096 cases in the external fixation group.(2) Meta analysis results showed:the surgical treatment situation of the external fixation group:surgical blood loss MD=-37.93, 95%CI(-48.54, -27.31), P<0.000 01;operation time MD=-31.58, 95%CI(-48.96, -14.20), P<0.000 4;hospitalization time MD=-4.58, 95%CI(-5.44, -3.71), P<0.000 01;the fracture healing time MD=-0.88, 95%CI(-1.35, -0.41), P<0.000 2, which were significantly better than that of the plate internal fixation group(P<0.05).(3) The two groups:palmar inclination angle MD=-0.17, 95%CI(-0.95, 0.61), P=0.68;ulnar declination MD=0.22, 95%CI(-0.73, 1.17), P=0.65, radial height MD=-0.24, 95%CI(-1.15, 0.67), P=0.60;flexion and extension MD=-5.63, 95%CI(-11.85, 0.58), P=0.08;rotation MD=-5.80, 95%CI(-12.77, 1.17), P=0.10, radioulnar deviation MD=-2.86, 95%CI(-10.87, 5.15), P=0.48;complication rate RR=0.96, 95%CI(0.63, 1.46), P=0.83;Gartland-Werley clinical wrist score MD=0.13, 95%CI(-0.80, 1.06), P=0.78;excellent and good rate of Gartland-Werley wrist clinical score RR=0.93, 95%CI(0.87, 1.01), P=0.08;excellent and good rate of Cooney wrist score RR=0.99, 95%CI(0.62, 1.59), P=0.98;wrist DASH score MD=-4.67, 95%CI(-14.96, 5.62), P=0.37;the differences were not significant (P>0.05).
CONCLUSION
Compared with internal fixation with plate, external fixation can significantly reduce the amount of surgical bleeding, shorten the operation time, hospitalization time and fracture healing time, and its imaging anatomical indicators, wrist mobility, and complications can be significantly reduced in treating AO-C distal radius fractures. Rates and wrist function scores were equivalent.
Humans
;
External Fixators
;
Bone Plates
;
Radius Fractures/surgery*
;
Fracture Fixation/methods*
;
Fracture Fixation, Internal
;
Wrist Fractures
8.Early results and indications of Stand-alone oblique lateral interbody fusion in lumbar lesions.
Zhong-You ZENG ; Xing ZHAO ; Wei YU ; Yong-Xing SONG ; Shun-Wu FAN ; Xiang-Qian FANG ; Fei PEI ; Shi-Yang FAN ; Guo-Hao SONG
China Journal of Orthopaedics and Traumatology 2025;38(5):454-464
OBJECTIVE:
To summarize the early clinical results and safety of Stand-alone OLIF application of lumbar lesions, and explored its surgical indications.
METHODS:
Total of 92 cases of lumbar spine lesions treated with Stand-alone OLIF at two medical centers from October 2014 to December 2018 were retrospectively analyzed, including 30 males and 62 females with an average age of (61.20±12.94) years old ranged from 32 to 83 years old. There were 20 cases of lumbar spinal stenosis, 15 cases of lumbar disc degeneration, 11 cases of lumbar degenerative spondylolisthesis, 6 cases of discogenic low back pain, 7 cases of giant lumbar disc herniation, 13 cases of primary lumbar discitis, 6 cases of adjacent vertebral disease after lumbar internal fixation surgery, and 14 cases of degenerative lumbar scoliosis. Pre-operative dual energy X-ray bone density examination 31 cases' T-values ranged from -1 to -2.4, 8 cases' T-values ranged from -2.5 to -3.5, and the rest had normal bone density. The number of fusion segments: 68 cases of single segment, 9 cases of two segment, 12 cases of three segment , and 3 cases of four segment. Fusion site:L1,2 1 case, L2,3 4 cases, L3,4 10 cases, L4,5 53 cases, L2,3-L3,4 3 cases, L3,4-L4,5 6 cases, L1,2L2,3L3,4 1 case, L1,2L3,4L4,5 1 case, L2,3L3,4L4,5 10 cases, L1,2L2,3L3,4L4,5 3 cases. The clinical results and imaging results of this group of cases were observed, as well as the complications.
RESULTS:
The surgical time ranged from 40 to 140 minutes with an average of (60.92±27.40) minutes. The intraoperative bleeding volume was 20 to 720 ml with an average of (68.22±141.60) ml. The patients had a follow-up period of 6 to 84 months with an average of (38.50±12.75) months. The height of the intervertebral space recovered from (9.23±1.94) mm in preoperative to (12.68±2.01) mm in postoperative, and (9.11±1.72) mm at the last follow-up, there was a statistically significant difference(F=6.641, P=0.008);there was also a statistically significant difference between the postoperative and preoperative height of the intervertebral space(t=9.27, P<0.000 1);and there was also a statistically significant difference (t=10.06, P<0.000 1) between the last follow-up and postoperative height of the intervertebral space. At the last follow-up, cage subsidence grading was as follows:level 0 in 69 cases (76 segments), levelⅠin 17 cases (43 segments), level Ⅱin 5 cases (14 segments), and level Ⅲ in 1 case (1 segment);according to the number of segments, normal subsidence accounts for 56.72%, abnormal subsidence accounts for 43.28%. Bone mineral desity of normal subsidence groups was -0.50±0.07 whinch was better than that the abnormal subsidence groups -2.10±0.43, and the difference was statistically significant(χ2=2.275, P=0.014). As well as there was a statistically significant difference in the patient's VAS of backache from (6.28±2.11) in preoperative to (1.48±0.59) in last follow-up(t=8.56, P<0.05). The ODI recovered from (36.30±7.52)% before surgery to (10.20±2.50)% at the last follow-up, with a statistically significant difference (t=7.79, P<0.000 1). Complications involved 4 cases of intraoperative vascular injury, 21 cases of endplate injury, and 4 cases of combined vertebral fractures. The incision skin has no necrosis or infection. There were 4 cases of left sympathetic chain injury, 4 cases of transient left hip flexion weakness, 2 cases of left thigh anterolateral numbness with quadriceps femoris weakness, and 1 case of incomplete intestinal obstruction;8 cases were treated with posterior pedicle screw fixation due to fusion cage settlement accompanied by stubborn lower back pain, and 6 cases were treated with fusion cage settlement and lateral displacement. According to the actual number of cases, there were 38 complications, with an incidence rate of 41.3%.
CONCLUSION
The application of Stand alone OLIF in lumbar spine disease fusion has achieved good early results, with obvious clinical advantages, but also there are high probability of complications. It is recommended to choose carefully. It is necessary to continuously summarize and gradually clarify and complete the surgical indications and specific case selection criteria.
Humans
;
Male
;
Female
;
Middle Aged
;
Spinal Fusion/methods*
;
Lumbar Vertebrae/injuries*
;
Aged
;
Adult
;
Retrospective Studies
;
Aged, 80 and over
9.Control of massive hemorrhage from the presacral venous plexus during the surgery of pelvic fracture using woven gelatin sponge balls:a case report.
Zhi-Jie XI ; Xiang-Bin LIU ; Wei-Xin LI ; Shu-Zhong HUANG ; Jie LI ; Wen SHU ; Zhan-Ying SHI
China Journal of Orthopaedics and Traumatology 2025;38(7):755-758
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
;
Male
;
Azoospermia/genetics*
;
Meiosis/genetics*
;
Spermatogenesis/genetics*
;
Adult
;
Exome Sequencing
;
Microtubule-Associated Proteins/genetics*
;
Alleles
;
Infertility, Male/genetics*


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