1.Exploring Anti-eczema Mechanism of Cymbaria dahurica n-butanol Extract Based on Multi-Technology Cross-fusion
Zengxia LIU ; Wanze FENG ; Juan ZHANG ; Chunlei HUA ; ARUHAN ; Rong WEN ; Chunhong ZHANG ; Minhui LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(23):144-154
ObjectiveTo explore the anti-eczema efficacy and mechanism of Mongolian medicine Cymbaria dahurica n-butanol extract. MethodsThe compounds of C. dahurica n-butanol extract were obtained by ultra-performance liquid chromatography-quadrupole-electrostatic field orbital trap high resolution mass spectrometry (UPLC-Q-Exactive MS) analysis and literature mining. GEO chip analysis and network pharmacology were employed to predict potential targets and pathways for the anti-eczema effect. Seventy-five mice were randomized into a normal group (10 mice) and a modeling group (65 mice). The model was induced by 1% dinitrochlorobenzene (DNCB) for 3 days. The modeled mice were grouped as follows: Positive drug (hydrocortisone butyrate cream, 250 mg·kg-1·d-1) and low-, medium-, and high-dose (95.94, 191.88, and 383.76 mg·kg-1·d-1, respectively) C. dahurica n-butanol extract, with 13 mice in each group. From day 5 of the experiment, 0.5% DNCB was applied, once every other day, until day 22. At the same time, drugs were applied daily from day 5. The appearance damage of back skin of mice in each group was analyzed. The pathological changes of the back skin of mice in each group were observed by hematoxylin-eosin (HE) staining and toluidine blue (TB) staining. The levels of inflammatory factors [histamine (HIS), interleukin-4 (IL-4), interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-α (TFN-α)], thymic stromal lymphopoietin (TSLP), and immunoglobulin E (IgE) in the serum were determined by enzyme-linked immunosorbent assay (ELISA). Metabolomics analysis was performed for the mouse skin. The HaCaT cell model of eczema was induced with TNF-α/interferon-γ (IFN-γ). The secretion levels of IL-6, IL-8, thymus and activation-regulated chemokine (TARC/CCL17), macrophage-derived chemokine (MDC), and TSLP in the cell supernatant from each group were measured by ELISA, while the protein levels of phosphorylated (p)-Janus kinase 2 (JAK2), JAK2, p-signal transducer and activator of transcription 3 (STAT3), and STAT3 were assessed by Western blot. ResultsThrough UPLC-Q-Exactive MS and literature review, a total of 125 compounds of C. dahurica n-butanol extract were obtained. The Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis showed that the anti-eczema mechanism of C. dahurica n-butanol extract may be related to the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway. The results of animal experiments showed that compared with the normal group, the modeling group exhibited redness, swelling, exudation, erosion, and scab formation on the back skin surface, and thickened dermis and epidermis with inflammatory cell infiltration. Compared with the modeling group, the positive drug and C. dahurica n-butanol alleviated the skin lesions (including redness, swelling, exudation, roughness, and keratosis and scab formation on the back), reduced the thickness of dermis and epidermis, mitigated inflammatory cell infiltration, and restored the skin tissue structure. Compared with the normal group, the modeling group showed elevated levels of HIS, IL-4, IL-6, IL-8, TNF-α, TSLP, and IgE (P<0.05, P<0.01), which were reversed in the positive drug group and C. dahurica n-butanol extract groups (P<0.05, P<0.01). The results of metabolomics analysis showed that 12 differential metabolites might be the key substances for mitigating metabolic disorders of the skin and were closely related to the JAK/STAT signaling pathway. The cell experiement showed that compared with the normal group, the model group exhibited upregulated expression levels of IL-6, IL-8, MDC, TARC, TSLP, p-JAK2, p-STAT3, p-JAK2/JAK2, and p-STAT3/STAT3 in HaCaT cells (P<0.05, P<0.01). Compared with the model group, C. dahurica n-butanol extract and dexamethasone downregulated the expression levles of these molecules (P<0.05, P<0.01). ConclusionC. dahurica n-butanol extract may play an anti-eczema role by inhibiting the JAK2/STAT3 signaling pathway, reducing the inflammatory response, and correcting the metabolic disorder.
2.Analysis on epidemiological characteristics of child injuries
Rong TAO ; Chunfang GU ; Zhiping LI ; Yuwei ZHANG ; Yafang HUA
International Journal of Pediatrics 2025;52(10):703-707
Objective:To analyze the epidemiological characteristics of child injuries(CI)and provide a scientific basis for developing CI prevention and treatment strategies.Methods:Clinical data of CI cases admitted to Kunshan Woman and Children’s Healthcare Hospital from January 1st,2020 to December 31st,2022 were collected. The cases were classified into three age groups:infants and toddlers(0-3 years),preschoolers(4-6 years),and school-age children(7-14 years). Post hoc testing was used for pairwise comparisons between groups,and differences were determined based on adjusted standardized residuals(AR). The epidemiological characteristics that were analyzed included the type,location,and nature of injuries across these age groups.Results:A total of 12 449 CI cases were collected with a male-to-female ratio of 1.72∶1. School-age boys were more prone to injuries(72.2%, AR=16.3)compared to the other two age groups. The major CI types were falls(50.4%),blunt injuries(15.9%),and strains(9.9%). The infant and toddler group showed higher rates of strains(21.9%, AR=34.9)and poisonings(7.9%, AR=19.6)compared to the other two groups,while preschoolers group had higher rates of falls(55.6%, AR=6.5)and motor vehicle accidents(4.8%, AR=3.6)compared to other age groups. The most frequently injured body regions were upper limbs(43.9%),head/face/neck(27.0%),and lower limbs(16.7%). The infant and toddler group had higher rates of head/face/neck(34.8%, AR=15.4),upper limb(46%, AR=3.6),and whole body(8.9%, AR=18.7)injuries. The nature of CI mainly includes contusion/bruise/crush injury(34.3%),fractures(20.0%)and sharp/open wounds(19.5%). School-age children exhibited higher rates of fractures(30.1%, AR=22.1),strains/sprains(10.1%, AR=13.0),contusion/bruise/crush injury(36.6%, AR=4.2),and multi-site injuries(0.7%, AR=4.4)compared to the other two groups. Injuries were mostly mild(90.8%),with infants and toddlers showing higher mild injury rates(95.0%, AR=12.7),whereas school-aged children had more moderate injuries(11.7%, AR=11.0). Conclusion:The epidemiological characteristics of CI in infants and toddlers,preschoolers and school-age children are different,and different intervention strategies are needed for different age groups.
3.Sex development disorder with discordant chromosome karyotype and gene detection:a case report and literature review
Yan-Lin REN ; Ya-Li LI ; Kun LI ; Fan ZHANG ; Li-Min RONG ; Xiao-Ping YU ; Jun GU ; Yan-Hua KANG ; Ying HE
Medical Journal of Chinese People's Liberation Army 2025;50(1):50-56
Objective To report the diagnosis,treatment,and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent,and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders.Methods A 14-year-old patient presented with primary amenorrhea on April 3,2020,at the First Affiliated Hospital of Hebei North University,exhibiting female sexual characteristics.The patient underwent ultrasonic/magnetic resonance imaging of gonads,assessment of gonadal axis function,chromosomal karyotype,and molecular genetic testing,as well as pelvic exploration,malignant gonads resection,and hormone replacement therapy,resulting in drug-induced menstruation.During the diagnosis and treatment,it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results.Subsequently,samples from the three germ layer cells were taken,and fluorescence in situ hybridization(FISH)was used to detect the sex chromosomes in each germ layer cell.XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads,and changes in anti-Müllerian hormone(AMH)levels before and after surgery were compared.Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease.Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues.The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30%(6/20),in peripheral blood lymphocytes derived from the mesoderm was 9.7%(11/114),and in bladder shed cells derived from endoderm was 20.4%(22/108).The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome;where the epididymal structure area had a 45,X cell line mosaic of 50.0%,and the malignant area had a normal"Y"content.After gonadal resection,AMH levels significantly dropped from 7.28 pmol/L to<0.07 pmol/L.Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum,most with features of Turner syndrome,and female phenotypes are at risk of gonadal tumors.Conclusions In the diagnosis of difficult cases of sex development disorders,when performing peripheral blood karyotype testing,the number of counted cells and analyzed cells should be increased as much as possible,and multi-germ layer cell sampling should be performed.Gonads with a high"Y"mosaic rate are more prone to malignancy in the abdominal cavity.Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.
4.Hysteroscopy improves the pregnancy outcomes following fresh embryo transfer in patients with FIGO Type Ⅱ and Ⅲ uterine fibroids diagnosed by ultrasound
Mengjie FAN ; Liying WANG ; Hua ZHANG ; Shuo YANG ; Caihong MA ; Rong LI
Chinese Journal of Reproduction and Contraception 2025;45(10):1032-1037
Objective:To investigate the impact of hysteroscopic surgery on fresh embryo transfer outcomes in patients with transvaginal ultrasound-diagnosed FIGO Type Ⅱ/Ⅲ uterine fibroids that may affect the uterine cavity morphology, providing a reference for clinical practice.Methods:A retrospective cohort study was performed to analyze the clinical data of 346 patients who visited the Reproductive Medicine Center, Department of Obstetrics and Gynecology, Peking University Third Hospital between January 2020 and December 2022, with transvaginal ultrasound findings indicating uterine fibroids adjacent to or protruding into the uterine cavity (FIGO Type Ⅱ, Ⅲ) and who underwent fresh embryo transfer. Patients were divided into two groups based on whether hysteroscopic surgery were performed: the hysteroscopic surgery group ( n=237, the group that underwent hysteroscopy before embryo transfer) and the non-surgery group ( n=109, the group that proceeded directly to embryo transfer without hysteroscopy). Basic patient characteristics and pregnancy outcomes were compared between the two groups. Multivariate logistic regression analysis was used to identify factors influencing clinical pregnancy rate and live birth rate. Results:The baseline characteristics showed no statistically significant differences between the two groups. The clinical pregnancy rate [44.3% (105/237)] and the live birth rate [32.5% (77/237)] following fresh embryo transfer in the hysteroscopic surgery group were significantly higher than those in the non-surgery group [31.2% (34/109), P=0.021; 18.3% (20/109), P=0.007], whereas the pregnancy loss rate showed no significant difference. Stratified analysis by age revealed that for patients aged <35 years, the clinical pregnancy rate [62.1% (54/87)] and the live birth rate [51.7% (45/87)] in fresh embryo transfer cycles were significantly higher in the hysteroscopic surgery group compared with the non-surgery group [30.8% (12/39), P=0.001; 25.6% (10/39), P=0.006]. Multivariate logistic regression analysis further confirmed that hysteroscopic surgery was an independent factor influencing live birth rate ( OR=2.128, 95% CI: 1.152-3.930, P=0.016). Among patients aged <35 years, hysteroscopic surgery was an influencing factor of both clinical pregnancy rate ( OR=4.222, 95% CI: 1.745-10.215, P=0.001) and live birth rate ( OR=3.449, 95% CI: 1.436-8.282, P=0.006). Conclusion:For infertile patients with ultrasound findings of uterine fibroids adjacent to or protruding into the uterine cavity, especially younger patients, hysteroscopy is recommended. It can improve pregnancy outcomes of fresh embryo transfer, increasing both the clinical pregnancy rate and the live birth rate.
5.Effects of perineal massage combined with Kegel exercises on preventing perineal injury: a Meta-analysis
Shumin GUO ; Rong LI ; Hua LIN ; Xiaojuan YANG ; Yu FAN ; Yanting ZHANG
Chinese Journal of Practical Nursing 2025;41(32):2516-2522
Objective:To evaluate the effect of perineal massage during pregnancy, when combined with Kegel exercises, on preventing perineal injury, and to provide a basis for offering safer and more effective delivery intervention measures for expectant mothers.Methods:Randomized controlled trials on perineal massage combined with Kegel exercises for preventing perineal injury were retrieved from databases such as CNKI, Wanfang database, VIP database, CBM database, PubMed, Embase, Web of Science, and Cochrane Library, from their inception to December 28, 2024. Meta-analysis was conducted using RevMan 5.3 software.Results:A total of 15 articles were included, involving 2 393 research subjects. The results of the Meta-analysis showed that there were statistically significant differences in the first stage of labor ( MD = - 1.63, 95% CI - 1.93 - - 1.30, P<0.001), the second stage of labor ( MD = - 32.58, 95% CI - 42.26 - - 22.90, P<0.01), and the third stage of labor time ( MD = - 3.41, 95% CI - 9.91 - - 2.91, P<0.001); the degree of perineal laceration Ⅱ ( OR = 0.40, 95% CI 0.28 - 0.58, P<0.001), Ⅲ( OR = 0.38, 95% CI 0.24 - 0.60, P<0.001), and Ⅳ( OR = 0.13, 95% CI 0.03 - 0.51, P = 0.003); the rate of perineal incision ( OR = 0.15, 95% CI 0.07 - 0.34, P<0.001), the rate of perineal laceration ( OR = 0.34, 95% CI 0.25 - 0.46, P<0.001), the rate of intact perineum ( OR = 6.30, 95% CI 3.20 - 12.40, P<0.001), and the amount of perineal bleeding ( MD = - 29.72, 95% CI - 43.51 - - 15.93, P<0.001), the difference was statistically significant. Conclusions:Prenatal perineal massage combined with Kegel exercises is a safe, effective and easily implementable intervention method. It is highly effective in preventing perineal injuries and shortening the duration of labor. It not only reduces the risk of postpartum complications but also helps to optimize the delivery experience. Therefore, this combined intervention method can be regarded as one of the important measures for preventing perineal injuries and should be widely promoted in clinical practice.
6.Current status and challenges of platelet-rich plasma-derived extracellular vesicles in treatment of chronic wounds
Shan HUA ; Hongyi ZHANG ; Jiawei GU ; Yuxin QIAN ; Rong GUO ; Yingshen SHI ; Yilong WANG ; Hua JIANG
Chinese Journal of Medical Aesthetics and Cosmetology 2025;31(4):337-342
Chronic wounds, defined as persistent failure to heal due to specific etiological factors, remain a major clinical challenge. Current standard interventions such as negative pressure wound therapy are limited by complications like hypergranulation and poor patient compliance, while emerging stem cell-based therapies carry potential tumorigenic risks. Consequently, identifying strategies to safely and effectively accelerate wound healing continues to be a critical focus in contemporary clinical research. Platelet-rich plasma derived extracellular vesicles (PRP-EVs) are extracellular vesicles released by platelets after activation. They have the characteristics of autologous origin, higher safety, and more mild and convenient clinical application. Studies have shown that PRP-EVs are rich in bioactive molecules such as lipids, proteins and RNA, which have outstanding performance in regulating wound inflammation, promoting angiogenesis, enhancing cell migration and proliferation, and are expected to become an effective tool for the treatment of chronic wounds. This review discusses the methods, mechanisms of action, and challenges associated with the use of PRP-EVs in chronic wound management, providing a foundation for future research and clinical applications in this field.
7.Study on protection of cerebral ischemia-reperfusion injury by HSYA activated neuronal autophagy based on SIRT1
Lijuan SONG ; Ruheng WEI ; Yaoyao DAI ; Jianlin HUA ; Mengwei RONG ; Cunyan DAN ; Chunli WEN ; Tianqing XIA ; Ce ZHANG ; Baoguo XIAO ; Cungen MA
Chinese Journal of Immunology 2025;41(6):1350-1357
Objective:To investigate effect and mechanism of hydroxysafflor yellow A(HSYA)activating neuronal autophagy on cerebral ischemia-reperfusion injury through a combination of in vitro and in vivo experiments.Methods:SD rat MCAO/R model was established by improved suture method.Rats were randomly divided into sham surgery(Sham)group,MCAO/R group and MCAO/R+HSYA group,following indicators were detected to determine extent of cerebral ischemia-reperfusion nerve damage:Z-Longa neu-rological function score was detected,TTC staining to measure cerebral infarction area,and TUNEL staining to measure cell apopto-sis;Western blot was used to detect protein expressions of autophagy related markers LC3,Beclin1,P62 and SIRT1 in rat brain tis-sue;immunofluorescence staining was used to observe expression of LC3 co-localization with neurons.OGD/R injury model of SH-SY5Y cells was established and randomly divided into Normal group,OGD/R group,OGD/R+HSYA group,OGD/R+SIRT1 inhibitor(EX-527)group and OGD/R+EX-527+HSYA group.Western blot was used to detect protein expressions of LC3,Beclin1,P62 and SIRT1.Results:Compared with Sham group,model group rats showed impaired neurological function,significantly increased neu-robehavioral scores,widespread cerebral infarction,significantly increased neuronal cell apoptosis,significantly increased autophagy related protein Beclin1 expression and LC3-Ⅱ/LC3-Ⅰ,significantly decreased P62 expression,significantly increased LC3/NeuN co-stained cells,and decreased SIRT1 expression;compared with model group,HSYA intervention group showed a significant decrease in neurological functional scores,a significant reduction in cerebral infarction area,a significant decrease in neuronal cell apoptosis,a further increase in Beclin1 expression and LC3-Ⅱ/LC3-Ⅰ,a further decrease in P62 expression,number of LC3/NeuN and P62/NeuN co-stained cells also increased,and SIRT1 expression significantly increased.Expression trends of Beclin1,LC3-Ⅱ/LC3-Ⅰ,P62 and SIRT1 of cells between normal group,model group and HSYA intervention group were same as animal experiment;compared with model group,expressions of SIRT1,Beclin1 and LC3-Ⅱ/LC3-Ⅰ in OGD/R+EX-527 group were significantly reduced,while expression of P62 was significantly increased;compared with OGD/R+EX-527 group,there was no significant change in SIRT1 expression in OGD/R+EX-527+HSYA group,LC3-Ⅱ/LC3-Ⅰ and Beclin1 expression were significantly increased,and P62 expres-sion was significantly decreased.Conclusion:HSYA can significantly improve neurological deficits in rats after cerebral ischemia-reperfusion,reduce cerebral infarction area,and decrease neuronal cell apoptosis rate,whose neuroprotective effect may be related to its activation of SIRT1,which significantly enhances neuronal autophagy.
8.Creation and Exploration of the"Organized Fill-in-the-Blank Format"Disci-pline Construction Model for Forensic Medicine in the New Era
Zhi-Wen WEI ; Hong-Xing WANG ; Jun-Hong SUN ; Hao-Liang FAN ; Hong-Liang SU ; Le-Le WANG ; Wen-Ting HE ; Zhe CHEN ; Jie ZHANG ; Xiang-Jie GUO ; Ji LI ; Geng-Qian ZHANG ; Xin-Hua LIANG ; Jiang-Wei YAN ; Qiang-Qiang ZHANG ; Cai-Rong GAO ; Ying-Yuan WANG ; Hong-Wei WANG ; Jun XIE ; Bo-Feng ZHU ; Ke-Ming YUN
Journal of Forensic Medicine 2025;41(1):25-29
Forensic medicine has been designated as a first-level discipline,presenting new opportunities and challenges for the development of forensic medicine.Since the 1980s,the establishment of foren-sic medicine discipline and the cultivation of high-level forensic talents have become hot topics in the development of forensic medicine in China.Since the 13th Five-Year Plan,the forensic team of Shanxi Medical University has been aiming at the forefront,proposing the development goals of"Five First-class"and the discipline development path"Six Major Achievements".It has selected benchmark disci-plines,identified gaps in disciplinary development,unified thoughts,formulated completion timelines,concentrated superior resources,assigned tasks to individuals,and created an"Organized Fill-in-the-Blank Format"forensic medicine discipline construction model with the characteristics of the new era.The construction model of forensic medicine has achieved good results in the goals,discipline frame-work,scientific research,talent cultivation,discipline team and platform construction,forming a rela-tively complete discipline construction and management system,and accumulating valuable experience for the construction of first-level discipline and high-level talent cultivation of forensic medicine.
9.Construction of a Prognostic Model for Lysosome-dependent Cell Death in Gastric Cancer Based on Single-cell RNA-seq and Bulk RNA-seq Data.
Peng NI ; Kai Xin GUO ; Tian Yi LIANG ; Xin Shuang FAN ; Yan Qiao HUA ; Yang Ye GAO ; Shuai Yin CHEN ; Guang Cai DUAN ; Rong Guang ZHANG
Biomedical and Environmental Sciences 2025;38(4):416-432
OBJECTIVE:
To identify prognostic genes associated with lysosome-dependent cell death (LDCD) in patients with gastric cancer (GC).
METHODS:
Differentially expressed genes (DEGs) were identified using The Cancer Genome Atlas - Stomach Adenocarcinoma. Weighted gene co-expression network analysis was performed to identify the key module genes associated with LDCD score. Candidate genes were identified by DEGs and key module genes. Univariate Cox regression analysis, and least absolute shrinkage and selection operator regression and multivariate Cox regression analyses were performed for the selection of prognostic genes, and risk module was established. Subsequently, key cells were identified in the single-cell dataset (GSE183904), and prognostic gene expression was analyzed. Cell proliferation and migration were assessed using the Cell Counting Kit-8 assay and the wound healing assay.
RESULTS:
A total of 4,465 DEGs, 95 candidate genes, and 4 prognostic genes, including C19orf59, BATF2, TNFAIP2, and TNFSF18, were identified in the analysis. Receiver operating characteristic curves indicated the excellent predictive power of the risk model. Three key cell types (B cells, chief cells, and endothelial/pericyte cells) were identified in the GSE183904 dataset. C19orf59 and TNFAIP2 exhibited predominant expression in macrophage species, whereas TNFAIP2 evolved over time in endothelial/pericyte cells and chief cells. Functional experiments confirmed that interfering with C19orf59 inhibited proliferation and migration in GC cells.
CONCLUSION
C19orf59, BATF2, TNFAIP2, and TNFSF18 are prognostic genes associated with LDCD in GC. Furthermore, the risk model established in this study showed robust predictive power.
Stomach Neoplasms/pathology*
;
Humans
;
Prognosis
;
Lysosomes/physiology*
;
RNA-Seq
;
Cell Death
;
Single-Cell Analysis
;
Gene Expression Regulation, Neoplastic
;
Cell Proliferation
;
Single-Cell Gene Expression Analysis
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*
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Meiosis/genetics*
;
Spermatogenesis/genetics*
;
Adult
;
Exome Sequencing
;
Microtubule-Associated Proteins/genetics*
;
Alleles
;
Infertility, Male/genetics*

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