1.Correlation between serum ferritin and metabolic syndrome among adult residents
Hui ZHAO ; Jun GUAN ; Bingfeng LIU ; Xiaoqi ZHOU
Journal of Public Health and Preventive Medicine 2025;36(2):95-99
Objective To explore the correlation between serum ferritin and the risk of metabolic syndrome, and to provide evidence for the prevention and control of metabolic syndrome. Methods Data was from the Jiang'an District survey data of the Chinese Resident Nutrition and Health Monitoring Project in 2022. A total of 399 adult residents were selected as the study subjects and the investigation was performed by questionnaire, physical examination and biochemical testing. Statistical analysis was conducted by SAS 9.4 software, and the association between serum ferritin and metabolic syndrome was analyzed by using multivariate logistic regression. Results The prevalence of metabolic syndrome in the study population was 43.61%, and 39.04% after standrdization. With the increase of serum ferritin levels, the prevalence of metabolic syndrome gradually increased (P<0.05). Serum ferritin was positively correlated with WC, DBP, TG, FPG, hsCRP, and HbA1c, while negatively correlated with HDL-C (P<0.05). Multivariate logistic regression analysis showed that after adjusting for confounding factors, female serum ferritin was positively correlated with the prevalence of metabolic syndrome (OR=3.59,95% CI:1.72-7.46); however, male serum ferritin level was not correlated with the prevalence of metabolic syndrome (OR=2.02,95% CI:0.76-3.40). Conclusion The prevalence of metabolic syndrome among residents in Jiang'an District is relatively high. Serum ferritin is associated with various components of metabolic syndrome, and the high serum ferritin level in women is associated with a higher risk of metabolic syndrome.
2.Structural identification for in vivo metabolites of proanthocyanidin B_2.
Wen-Hui ZHAO ; Hui-Ting TANG ; Jun LI ; Yue-Lin SONG ; Ke ZHANG ; Yun-Fang ZHAO
China Journal of Chinese Materia Medica 2025;50(10):2841-2852
Proanthocyanidin B_2(PAC-B_2), a polyphenolic dimeric compound comprising two epicatechin molecules linked by a C-C bond, is extensively found in traditional Chinese medicines, with anti-tumor and anti-oxidant activities. Given the limited bioavailability, a thorough investigation and comprehensive understanding of PAC-B_2 metabolism in vivo are essential for elucidating therapeutic forms and mechanisms. In the present study, ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry(UPLC-Q-TOF-MS) in the negative ion mode was employed to acquire the MS/MS information of PAC-B_2 and metabolites in urine and feces samples of the rats administrated with PAC-B_2. Online energy-resolved MS(ER-MS) was applied as supplementary to obtain the full collision energy ramp-MS~2 spectra(FCER-MS~2) of isomers-of-interest, which implied comprehensive MS~2 information of targeted compounds. Finally, the possible metabolic pathways of PAC-B_2 in rats were proposed. The primary fragmentation behaviors of PAC-B_2 in the negative ion mode included quinone methide fission between C_4-C_8 bond, retro Diels-Alder cracking of F-ring, heterocyclic ring fission of C-ring, and neutral loss of small molecules such as H_2O. A total of 25 metabolites were tentatively elucidated in urine and feces samples of rats administrated with PAC-B_2 by fragmentation pattern and reported literature. Two groups of isomers, M3/M4/M5 and M9/M11, were confirmatively differentiated based on the relationships between optimal collision energy provided by FCER-MS~2 and bond properties, including bond length and bond dissociation energy. In addition to the ring-opening and methylation, PAC-B_2 could also be metabolized into epicatechin and low molecular weight phenolic acids, which were subsequently subjected to dehydroxylation, ring-opening, methylation, sulfation, and glucuronidation. The structural information provided by online ER-MS and FCER-MS~2 enabled the differentiation of isomers and improved the identification confidence. More importantly, the present study deeply analyzes the in vivo metabolic pathways of PAC-B_2, providing a basis for the research on the pharmacological mechanism of this compound.
Animals
;
Proanthocyanidins/urine*
;
Rats
;
Male
;
Drugs, Chinese Herbal/chemistry*
;
Rats, Sprague-Dawley
;
Tandem Mass Spectrometry
;
Chromatography, High Pressure Liquid
;
Feces/chemistry*
;
Molecular Structure
3.A new amide alkaloid from Cannabis Fructus.
Rui-Wen XU ; Yong-Zhuo ZHAO ; Yu-Guo MA ; Hui LIU ; Yan-Jun SUN ; Wei-Sheng FENG ; Hui CHEN
China Journal of Chinese Materia Medica 2025;50(11):3043-3048
Eight amide alkaloids(1-8) were isolated from the 70% ethanol extract of Cannabis Fructus using silica gel column chromatography, MCI column chromatography, and semi-preparative high-performance liquid chromatography(HPLC). Their structures were identified as hempspiramide A(1), N-[(4-hydroxyphenyl)ethyl]formamide(2), N-acetyltyramide(3), N-trans-p-coumaroyltyramine(4), N-trans-caffeoyltyramine(5), N-trans-feruloyltyramine(6), N-cis-p-coumaroyltyramine(7), N-cis-feruloyltyramine(8) by using spectroscopic methods such as NMR and MS. Among these compounds, compound 1 was a new amide alkaloid, while compounds 2 and 3 were isolated from Cannabis Fructus for the first time. Some of the isolates were assayed for their α-glucosidase inhibitory activity. Compounds 5-7 displayed significant inhibitory activity against α-glucosidase with IC_(50) values ranging from 1.07 to 4.63 μmol·L~(-1).
Cannabis/chemistry*
;
Alkaloids/pharmacology*
;
Amides/isolation & purification*
;
Drugs, Chinese Herbal/isolation & purification*
;
Fruit/chemistry*
;
Molecular Structure
;
alpha-Glucosidases/chemistry*
;
Chromatography, High Pressure Liquid
4.Three new chalcone C-glycosides from Carthami Flos.
Jia-Xu BAO ; Yong-Xiang WANG ; Xian ZHANG ; Ya-Zhu YANG ; Yue LIN ; Jiao-Jiao YIN ; Yun-Fang ZHAO ; Hui-Xia HUO ; Peng-Fei TU ; Jun LI
China Journal of Chinese Materia Medica 2025;50(13):3715-3745
The chemical components of Carthami Flos were investigated by using macroporous resin, silica gel column chromatography, reversed-phase octadecylsilane(ODS) column chromatography, Sephadex LH-20, and semi-preparative high-performance liquid chromatography(HPLC). The planar structures of the compounds were established based on their physicochemical properties and ultraviolet-visible(UV-Vis), infrared(IR), high-resolution electrospray ionization mass spectrometry(HR-ESI-MS), and nuclear magnetic resonance(NMR) spectroscopic technology. The absolute configurations were determined by comparing the calculated and experimental electronic circular dichroism(ECD). Six flavonoid C-glycosides were isolated from the 30% ethanol elution fraction of macroporous resin obtained from the 95% ethanol extract of Carthami Flos, and identified as saffloquinoside F(1), 5-hydroxysaffloneoside(2), iso-5-hydroxysaffloneoside(3), isosafflomin C(4), safflomin C(5), and vicenin 2(6). Among these, the compounds 1 to 3 were new chalcone C-glycosides. The compounds 1, 2, 4, and 5 could significantly increase the viability of H9c2 cardiomyocytes damaged by oxygen-glucose deprivation/reoxygenation(OGD/R) at a concentration of 50 μmol·L~(-1), showing their good cardioprotective activity.
Glycosides/pharmacology*
;
Flowers/chemistry*
;
Drugs, Chinese Herbal/pharmacology*
;
Carthamus tinctorius/chemistry*
;
Chalcones/pharmacology*
;
Animals
5.Development of intelligent equipment for rapid microbial detection of Atractylodis Macrocephalae Rhizoma decoction pieces based on measurement technology for traditional Chinese medicine manufacturing.
Yang LIU ; Wu-Zhen QI ; Yu-Tong WU ; Shan-Xi ZHU ; Xiao-Jun ZHAO ; Qia-Tong XIE ; Yu-Feng GUO ; Jing ZHAO ; Nan LI ; Shi-Jun WANG ; Qi-Hui SUN ; Zhi-Sheng WU
China Journal of Chinese Materia Medica 2025;50(16):4610-4618
Microbial detection and control of traditional Chinese medicine(TCM) decoction pieces are crucial for the quality control of TCM preparations. It is also a key area of research in the measurement technology and equipment development for TCM manufacturing. Guided by TCM manufacturing measurement methodologies, this study presented a design of a novel portable microbial detection device, using Atractylodis Macrocephalae Rhizoma decoction pieces as a demonstration. Immunomagnetic separation technology was employed for specific isolation and labeling of target microorganisms. Enzymatic signal amplification was utilized to convert weak biological signals into colorimetric signals, constructing an optical biosensor. A self-developed smartphone APP was further applied to analyze the colorimetric signals and quantify target concentrations. A portable and automated detection system based on Arduino microcontroller was developed to automatically perform target microbial separation/extraction, as well as mimetic enzyme labeling and catalytic reactions. The developed equipment specifically focuses on the rapid and quantitative microbial analysis of TCM active pharmaceutical ingredients, intermediates in TCM manufacturing, and final TCM products. Experimental results demonstrate that the equipment could detect Salmonella in samples within 2 h, with a detection limit as low as 5.1 × 10~3 CFU·mL~(-1). The equipment enables the rapid detection of microorganisms in TCM decoction pieces, providing a potential technical solution for on-site rapid screening of microbial contamination indicators in TCM. It has broad application prospects in measurement technology for TCM manufacturing and offers strong technical support for the modernization, industrialization, and intelligent development of TCM.
Drugs, Chinese Herbal/analysis*
;
Atractylodes/microbiology*
;
Rhizome/microbiology*
;
Biosensing Techniques/methods*
;
Medicine, Chinese Traditional
;
Colorimetry/instrumentation*
;
Quality Control
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.Biomechanical study and clinical application of two osteotomy guide methods in media open wedge high tibial osteotomy operation.
Chao QI ; Xiao-Ming LI ; Dong-Hui GUO ; Qiu-Ling SHI ; Yun-Chao ZHAO ; Jun DONG ; Zheng-Xin MENG ; Xing-Yue WANG
China Journal of Orthopaedics and Traumatology 2025;38(7):698-704
OBJECTIVE:
To explore the effectiveness and feasibility of two osteotomy guides in medial open wedge high tibial osteotomy (MOWHTO).
METHODS:
Clinical data of 103 patients who underwent routine MOWHTO surgery between January 2020 and December 2022 were collected for retrospective analysis. The patients were divided into two groups based on the method of osteotomy guide plate. The control group of 51 patients received traditional osteotomy guide plate technique, including 17 males and 34 females, aged from 48 to 68 years old with an average of(57.93±4.82) years old, with a disease duration ranged from 1 to 8 years with an average of (4.89±1.49) years. The observation group of 52 patients received personalized osteotomy guide plate technique, including 23 males and 29 females, aged from 48 to 69 with an average of (58.22±5.10) years, with a disease duration ranged from 1 to 9 years with an average of(5.10±1.55) years. The perioperative indicators, complications, and knee joint recovery rate were statistically analyzed for both groups, as well as the preoperative and postoperative coagulation function, fibrinogen (FIB), D-dimer (D-D), gait parameters (step frequency, step length, step speed), biomechanical indicators, weight bearing line (WBL), medial proximal tibial angle (MPTA), joint line conergence angle (JLCA), and anterior cruciate ligament (ACL) function (body width, tibial anterior displacement).
RESULTS:
All patients were followed up for 6 months. The intraoperative blood loss, operation time, and number of fluoroscopic views in the observation group were (358.58±93.76) ml, (84.42±8.17) min, and (2.00±0.44) times, respectively, which were all less than those in the control group (465.55±105.38) ml, (96.53±10.51) min, and (6.31±0.58) times (P<0.05). Three days after surgery, the FIB and D-D levels in the observation group were (4.21±0.48) g·L-1 and (204.47±35.59) μg·L-1, respectively, which were both lower than those in the control group (5.56±0.57) g·L-1 and (311.12±42.23) μg·L-1 (P<0.05). Three months after surgery, the step frequency, step length, and step speed in the observation group were (1.89±0.23) steps·s-1, (0.57±0.15) m, and (0.99±0.11) m·s-1, respectively, which were all higher than those in the control group (1.80±0.18) steps·s-1, (0.50±0.14) m, and (0.95±0.09) m·s-1 (P<0.05). Three months after surgery, the WBL and MPTA in the observation group were (45.53±4.41)% and (87.03±8.15)°, respectively, which were both higher than those in the control group (38.38±4.36)% and (83.68±8.50)°, and the JLCA was (2.36±0.24)°, which was lower than that in the control group (2.61±0.33)° (P<0.05). The ACL body width during internal fixation removal was (5.60±0.51) mm, which was greater than that in the control group (5.08±0.56) mm, and the tibial migration was (5.70±0.42) mm, which was less than that in the control group (6.33±0.48) mm (P<0.05). There was no significant difference in the incidence of complications between the two groups (P>0.05). Six months after surgery, there was no significant difference in the recovery rate of knee joint between the two groups (P>0.05).
CONCLUSION
The application of personalized osteotomy guide technique in MOWHTO can help improve knee biomechanics and ACL function, and has less effect on coagulation function and no increase in complications.
Humans
;
Male
;
Female
;
Osteotomy/methods*
;
Middle Aged
;
Tibia/physiopathology*
;
Aged
;
Biomechanical Phenomena
;
Retrospective Studies
;
Osteoarthritis, Knee/physiopathology*
8.A finite element method biomechanical study of a new type of composite anterior cervical internal fixation methods.
Zhi-Peng HOU ; Sen-Qi YE ; Ji-Hui ZHANG ; Liu-Jun ZHAO ; Yong-Jie GU ; Liang YU
China Journal of Orthopaedics and Traumatology 2025;38(11):1156-1163
OBJECTIVE:
To compare the biomechanical properties of four internal fixation methods in a lower cervical spine injury model using the finite element method.
METHODS:
Cervical CT data of a 28-year-old healthy adult male were utilized to establish a finite element model of the normal cervical spine and a lower cervical spine three-column injury model. Four internal fixation methods were then applied to the three-column injury model, resulting in four groups:Group A, anterior cervical locked-plate(ACLP) fixation system model(anterior approach);Group B, posterior cervical pedicle screw fixation model (posterior approach);Group C, combined anterior and posterior cervical pedicle screw fixation model; Group D, Novel composite anterior cervical internal fixation model. A 75 N axial compressive load and a 1.0 N·m pure moment were applied to the upper surface of the cervical spine model to simulate flexion, extension, rotation, and lateral bending movements. The intervertebral range of motion(ROM) and stress distribution of the internal fixators under different motion conditions were compared across all models.
RESULTS:
Compared with the normal model, the reductions in overall intervertebral ROM for each group under flexion, extension, rotation, and lateral bending were as follows:Group A, 24.04°, 23.12°, 6.24°, and 9.06°;Group B, 24.42°, 24.34°, 6.48°, and 9.20°;Group C, 25.43°, 25.29°, 7.17°, and 9.57°;Group D, 24.75°, 25.5°, 6.71°, and 9.12°. The peak stress values of the internal fixators in each group were:Group A, 53.9 MPa, 79.9 MPa, 61.4 MPa, and 80.3 MPa;Group B, 218.3 MPa, 105.4 MPa, 206.6 MPa, and 186.8 MPa;Group C, 40.8 MPa, 97.2 MPa, 47.1 MPa, and 39.4 MPa;Group D, 93.0 MPa, 144.0 MPa, 64.8 MPa, and 106.3 MPa.
CONCLUSION
The biomechanical properties of the novel composite anterior cervical internal fixation method are similar to those of the combined anterior-posterior fixation method, and superior to both the anterior cervical ACLP plate-screw fixation and posterior cervical pedicle screw fixation methods.
Humans
;
Finite Element Analysis
;
Cervical Vertebrae/physiopathology*
;
Male
;
Biomechanical Phenomena
;
Adult
;
Fracture Fixation, Internal/methods*
;
Range of Motion, Articular
9.Protective effect of sub-hypothermic mechanical perfusion combined with membrane lung oxygenation on a yorkshire model of brain injury after traumatic blood loss.
Xiang-Yu SONG ; Yang-Hui DONG ; Zhi-Bo JIA ; Lei-Jia CHEN ; Meng-Yi CUI ; Yan-Jun GUAN ; Bo-Yao YANG ; Si-Ce WANG ; Sheng-Feng CHEN ; Peng-Kai LI ; Heng CHEN ; Hao-Chen ZUO ; Zhan-Cheng YANG ; Wen-Jing XU ; Ya-Qun ZHAO ; Jiang PENG
Chinese Journal of Traumatology 2025;28(6):469-476
PURPOSE:
To investigate the protective effect of sub-hypothermic mechanical perfusion combined with membrane lung oxygenation on ischemic hypoxic injury of yorkshire brain tissue caused by traumatic blood loss.
METHODS:
This article performed a random controlled trial. Brain tissue of 7 yorkshire was selected and divided into the sub-low temperature anterograde machine perfusion group (n = 4) and the blank control group (n = 3) using the random number table method. A yorkshire model of brain tissue injury induced by traumatic blood loss was established. Firstly, the perfusion temperature and blood oxygen saturation were monitored in real-time during the perfusion process. The number of red blood cells, hemoglobin content, NA+, K+, and Ca2+ ions concentrations and pH of the perfusate were detected. Following perfusion, we specifically examined the parietal lobe to assess its water content. The prefrontal cortex and hippocampus were then dissected for histological evaluation, allowing us to investigate potential regional differences in tissue injury. The blank control group was sampled directly before perfusion. All statistical analyses and graphs were performed using GraphPad Prism 8.0 Student t-test. All tests were two-sided, and p value of less than 0.05 was considered to indicate statistical significance.
RESULTS:
The contents of red blood cells and hemoglobin during perfusion were maintained at normal levels but more red blood cells were destroyed 3 h after the perfusion. The blood oxygen saturation of the perfusion group was maintained at 95% - 98%. NA+ and K+ concentrations were normal most of the time during perfusion but increased significantly at about 4 h. The Ca2+ concentration remained within the normal range at each period. Glucose levels were slightly higher than the baseline level. The pH of the perfusion solution was slightly lower at the beginning of perfusion, and then gradually increased to the normal level. The water content of brain tissue in the sub-low and docile perfusion group was 78.95% ± 0.39%, which was significantly higher than that in the control group (75.27% ± 0.55%, t = 10.49, p < 0.001), and the difference was statistically significant. Compared with the blank control group, the structure and morphology of pyramidal neurons in the prefrontal cortex and CA1 region of the hippocampal gyrus were similar, and their integrity was better. The structural integrity of granulosa neurons was destroyed and cell edema increased in the perfusion group compared with the blank control group. Immunofluorescence staining for glail fibrillary acidic protein and Iba1, markers of glial cells, revealed well-preserved cell structures in the perfusion group. While there were indications of abnormal cellular activity, the analysis showed no significant difference in axon thickness or integrity compared to the 1-h blank control group.
CONCLUSIONS
Mild hypothermic machine perfusion can improve ischemia and hypoxia injury of yorkshire brain tissue caused by traumatic blood loss and delay the necrosis and apoptosis of yorkshire brain tissue by continuous oxygen supply, maintaining ion homeostasis and reducing tissue metabolism level.
Animals
;
Perfusion/methods*
;
Disease Models, Animal
;
Brain Injuries/etiology*
;
Swine
;
Male
;
Hypothermia, Induced/methods*
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*


Result Analysis
Print
Save
E-mail