1.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*
2.Effective Salvage Mobilization of Peripheral Blood Stem Cells with High-Dose Etoposide in Newly Diagnosed Multiple Myeloma Patients Who Failed Initial Mobilization with High-Dose Cyclophosphamide.
Yue-Qi WANG ; Shi-Hua ZHAO ; Yi MA ; Xi-Lin CHEN ; Shun-Zong YUAN ; Na-Na CHENG ; Guang-Ning SHI ; Wen-Rong HUANG ; Xiu-Bin XIAO
Journal of Experimental Hematology 2025;33(5):1380-1385
OBJECTIVE:
To explore the safety and efficacy of high-dose etoposide (VP-16) combined with recombinant human granulocyte colony-stimulating factor (rhG-CSF) as salvage mobilization for peripheral blood stem cells (PBSC) in newly diagnosed multiple myeloma (NDMM) patients.
METHODS:
From April 2021 to May 2023, eight NDMM patients who had failed to yield sufficient PBSC during initial mobilization with high-dose cyclophosphamide (CTX) combined with rhG-CSF underwent salvage mobilization with 1.2 g/m2 etoposide combined with rhG-CSF 10 μg/(kg·d). The effects and adverse reactions of initial mobilization and salvage mobilization were analyzed.
RESULTS:
For salvage mobilization and initial mobilization, the numbers of PBSC collections were 16 and 18, respectively. The mean value of total collected CD34+ cells were (11.90±5.75)×106/kg and (1.67±0.75)×106/kg (P =0.0010) in salvage mobilization group and initial mobilization group, respectively. The proportion of patients with a total collection of CD34+ cell count≥2×106/kg were 100% and 37.5% (P =0.0625), and the proportion of patients with a total collection of CD34+ cell count≥5×106/kg were 87.5% and 0% (P =0.0156) in salvage mobilization group and initial mobilization group, respectively. For five patients who underwent high-dose CTX initial mobilization but had a total CD34+ cell count < 2×106/kg, successful collection was achieved through salvage mobilization with high-dose VP-16. Salvage mobilization with high-dose VP-16 was scheduled 2-3 weeks after failure of CTX mobilization. Adverse reactions of high-dose VP-16 mobilization did not increase compared to the initial mobilization with high-dose CTX.
CONCLUSION
As a salvage mobilization regimen, VP-16 1.2 g/m2 combined with rhG-CSF is safe and highly effective in NDMM patients who failed to initial mobilization with high-dose CTX combined with rhG-CSF.
Humans
;
Multiple Myeloma/therapy*
;
Etoposide/therapeutic use*
;
Hematopoietic Stem Cell Mobilization/methods*
;
Cyclophosphamide/therapeutic use*
;
Granulocyte Colony-Stimulating Factor
;
Salvage Therapy
;
Peripheral Blood Stem Cells
;
Male
;
Middle Aged
;
Female
;
Peripheral Blood Stem Cell Transplantation
3.Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury (version 2025)
Kai HUANG ; Lunhao BAI ; Qing BI ; Hong CHEN ; Jiwu CHEN ; Xuesong DAI ; Wenyong FEI ; Weili FU ; Zhizeng GAO ; Lin GUO ; Yinghui HUA ; Jingmin HUANG ; Suizhu HUANG ; Xuan HUANG ; Jian LI ; Qiang LI ; Shuzhen LI ; Yanlin LI ; Yunxia LI ; Zhong LI ; Ning LIU ; Yuqiang LIU ; Wei LU ; Hongbin LYU ; Haile PAN ; Xiaoyun PAN ; Chao QI ; Weiliang SHEN ; Luning SUN ; Jin TANG ; Zimin WANG ; Bide WANG ; Ru WANG ; Shaobai WANG ; Licheng WEI ; Weidong XU ; Yongsheng XU ; Jizhou YANG ; Liang YANG ; Rui YANG ; Hongbo YOU ; Tengbo YU ; Jiakuo YU ; Bing YUE ; Hua ZHANG ; Hui ZHANG ; Qingsong ZHANG ; Xintao ZHANG ; Jiajun ZHAO ; Lilian ZHAO ; Qichun ZHAO ; Song ZHAO ; Jiapeng ZHENG ; Jiang ZHENG ; Zhi ZHENG ; Jingbin ZHOU ; Jinzhong ZHAO
Chinese Journal of Trauma 2025;41(4):325-338
With the rapid development of competitive sports, the incidence of anterior cruciate ligament (ACL) injury is on the rise. Such injuries may shorten athletes′ career and lead to other long-term adverse consequences. Although athletes generally recover well after ACL reconstruction, many still struggle to return to their pre-injury performance levels. Advances in the understanding of ACL anatomy and injury mechanisms, along with the evolution of surgical techniques and rehabilitation methods, have provided more individualized and tailored options for athletes following ACL injuries. However, there is currently no consensus in China regarding surgical and rehabilitation strategies for competitive athletes aiming to return to sports after ACL injuries. To this end, the Sports Medicine Committee of the Chinese Research Hospital Association and the Editorial Board of the Chinese Journal of Trauma jointly formulated the Expert consensus on surgical treatment and rehabilitation for competitive sports athletes returning to sports after anterior cruciate ligament injury ( version 2025), and presented 14 recommendations covering surgical indications, preoperative rehabilitation, surgical timing, surgical strategies and postoperative rehabilitation strategies, aiming to improve the surgical treatment and rehabilitation system for ACL injuries in competitive athletes and facilitate their return to high-level sports performance after injury.
4.Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury (version 2025)
Aijun XU ; Shuixia LI ; Bo CHEN ; Mengyuan YE ; Lejiao LANG ; Ning NING ; Lin ZHANG ; Changqing LIU ; Zhonglan CHEN ; Weihu MA ; Weishi LI ; Xiaoning WANG ; Dongmei BIAN ; Jiancheng ZENG ; Xin WANG ; Yuan GAO ; Yaping CHEN ; Jiali CHEN ; Yun HAN ; Xiuting LI ; Yang ZHOU ; Xiaojing SU ; Qiong ZHANG ; Tianwen HUANG ; Ping ZHANG ; Hua LIN ; Xingling XIAO ; Ruifeng XU ; Fanghui DONG ; Bing HAN ; Luo FAN ; Yanling PEI ; Suyun LI ; Xiaoju TAN ; Rongchen GUO ; Yefang ZOU ; Xiaoyun HAN ; Junqin DING ; Yi WANG ; Shuhua DENG ; Jinli GUO ; Yinhua LIANG ; Yuan CEN ; Xiaoqin LIU ; Junru CHEN ; Haiyang YU ; Lunlan LI ; Ying REN ; Yunxia LI ; Jianli LU ; Ying YING ; Lan WEI ; Yin WANG ; Qinhong XU ; Yanqin ZHANG ; Yang LYU ; Shijun ZHANG ; Sui WENJIE ; Sanlian HU ; Shuhong YANG ; Guoqing LI ; Jingjing AN ; Baorong HE ; Leling FENG
Chinese Journal of Trauma 2025;41(6):530-541
Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.
5.Regulatory effect of neutrophils in microglial polarization after permanent ischemic stroke
Min-Hua HUANG ; Xin-Yan YE ; Si-Yu WU ; Shao-Tong LUO ; Zhi-Shan WU ; Yuan CHEN ; Su-Ning PING
Acta Anatomica Sinica 2025;56(2):136-142
Objective To investigate the effects of peripheral blood neutrophil infiltration on the polarization regulation of cerebral resident microglia under a permanent ischemic stroke model.Methods Fifty-eight C57BL/6 mice were divided into two groups.One group was sham group,and the other group of mice was subjected to permanent middle cerebral artery occlusion surgery.Mice were euthanized 48 hours,7 days,14 days,and 30 days after surgery for tissue collection.Western blotting was used to detect expression levels of M1 microglia markers CD 16,M2 microglia marker arginase 1(Arg1),inflammatory cytokine interleukin-1 β(IL-1β),and neutrophil marker myeloperoxidase(MPO)in brain tissue.Immunofluorescence histochemical staining was used to assess neutrophil infiltration and M2 microglial distribution around the infarct area in brain sections.In vitro,purified neutrophils were co-cultured with BV2 microglial cells.After lipopolysaccharide stimulation,the phagocytosis of neutrophils by BV2 cells was observed,and the expression levels of CD16 and Arg1 proteins in BV2 cells were detected.Results Western blotting showed that the levels of CD16(P<0.05),IL-1β(P<0.001),and MPO(P<0.05)in brain tissue increased significantly 48 hours and 7 days after surgery,then decreased,with MPO expression returning to normal levels 30 days after surgery.Immunofluorescence showed a significant increase of MPO-positive cells around the infarct area of the mouse cerebral cortex 48 hours after surgery(P<0.001),followed by a decrease(P<0.05).The number of ionized calcium binding adapter molecule 1(Iba1)and MPO double-positive cells gradually increased after surgery,and reached their peak at 14 days(P<0.05).Iba1 and Arg1 double-positive cells also increased significantly 7 days(P<0.05)and 14 days(P<0.01)after surgery.In vitro,co-culture experiments showed that after BV2 phagocytosing neutrophils,CD 16(P<0.05)significantly decreased and Arg1 significantly upregulated(P<0.05).Conclusion In a permanent ischemic stroke model,microglia transition from M1 to M2 type after phagocytosing neutrophils,and the injured brain area changes from pro-inflammatory state to anti-inflammatory state.
6.Analysis on revision points of GB 19083-2023 Protective face mask for medical use
Xiao-xiao HE ; Xiong-yi HUANG ; Li YANG ; Ning-rui ZHANG ; Qing-hui REN ; He-hua ZHANG
Chinese Medical Equipment Journal 2025;46(1):73-77
The background of revising GB 19083-2023 Protective face mask for medical use was introduced.GB 19083-2023 was compared with GB 19083-2010 Technical requirements for protective face mask for medical use.The revision points were described in detail involving in dead space,total leakage rate,respiratory resistance,resistance to synthetic blood penetration,microbial indicators,biocompatibility and etc,and the convergence between GB 19083-2023 and international mainstream standards was analyzed.References were provided for the understanding of the standard for the production enterprises and consumers.[Chinese Medical Equipment Journal,2025,46(1):73-77]
7.Influence of Trigeminal Rod Therapy on the Stone Expulsion Effect after Extracorporeal Shock Wave Lithotripsy in Patients with Ureteral Calculi
Xiao-ning HUANG ; Li-hua CAO ; Chun-xiang XIE
Progress in Modern Biomedicine 2025;25(18):2911-2916
Objective:To observe the influence of trigeminal rod therapy on the stone expulsion effect after extracorporeal shock wave lithotripsy(ESWL)in patients with ureteral calculi.Methods:The clinical data of patients with ureteral calculi admitted to Weifang Traditional Chinese Medicine Hospital from May 2022 to August 2024 were retrospectively analyzed.Among them,50 patients who received ESWL ESWL combined with trigeminal rod therapy were the observation group,and 50 patients who received ESWL single treatment were randomly selected as the case control group according to the ratio of 1:1.The clinical efficacy,stone expulsion time,usage rate of analgesic drugs,incidence of renal colic and pain degree of the two groups were compared.Results:Compared with control group,the total clinical effective rate in the observation group was higher,the incidence of renal colic and usage rate of analgesic drugs were lower,and the stone expulsion time was shorter(P<0.05).Compared with control group at 1 d,3 d and 7 d after treatment,the visual analogue scale(VAS)in the observation group was lower(P<0.05).Conclusion:Trigeminal rod therapy can increase the total clinical effective rate after ESWL in patients with ureteral calculi,shorten the stone excretion time,reduce usage rate of analgesic drug and the risk of renal colic,and alleviate pain.
8.Research status and ideas on protective effects of traditional Chinese medicine active monomers on tissues and organs based on Nrf2/GPX4 signaling pathway
Wu-zhen HUANG ; Si-ning CHEN ; Zhan-hua LI
Chinese Pharmacological Bulletin 2025;41(4):613-620
Ferroptosis is a cell death pattern associated with the regulation of the Nrf2/GPX4 signaling pathway.Activating the Nrf2/GPX4 signaling pathway can regulate the expression of genes and proteins related to oxidative stress,alleviate stress damage,and inhibit cell ferroptosis.At present,research on the intervention of traditional Chinese medicine in ferroptosis has made certain progress.Through literature research,it can be found that some traditional Chinese medicine active monomers can activate the Nrf2/GPX4 signaling pathway to inhibit ferrop-tosis,play a protective role in tissues and organs,and have ther-apeutic potential in various diseases.Some traditional Chinese medicine active monomers exhibit characteristics of multi organ protective effects and bidirectional regulation.This article discus-ses the relevant research on the inhibition of ferroptosis by acti-vating the Nrf2/GPX4 signaling pathway with traditional Chinese medicine active monomers,and proposes suggestions to provide reference and ideas for further basic and applied research.
9.Influence of Trigeminal Rod Therapy on the Stone Expulsion Effect after Extracorporeal Shock Wave Lithotripsy in Patients with Ureteral Calculi
Xiao-ning HUANG ; Li-hua CAO ; Chun-xiang XIE
Progress in Modern Biomedicine 2025;25(18):2911-2916
Objective:To observe the influence of trigeminal rod therapy on the stone expulsion effect after extracorporeal shock wave lithotripsy(ESWL)in patients with ureteral calculi.Methods:The clinical data of patients with ureteral calculi admitted to Weifang Traditional Chinese Medicine Hospital from May 2022 to August 2024 were retrospectively analyzed.Among them,50 patients who received ESWL ESWL combined with trigeminal rod therapy were the observation group,and 50 patients who received ESWL single treatment were randomly selected as the case control group according to the ratio of 1:1.The clinical efficacy,stone expulsion time,usage rate of analgesic drugs,incidence of renal colic and pain degree of the two groups were compared.Results:Compared with control group,the total clinical effective rate in the observation group was higher,the incidence of renal colic and usage rate of analgesic drugs were lower,and the stone expulsion time was shorter(P<0.05).Compared with control group at 1 d,3 d and 7 d after treatment,the visual analogue scale(VAS)in the observation group was lower(P<0.05).Conclusion:Trigeminal rod therapy can increase the total clinical effective rate after ESWL in patients with ureteral calculi,shorten the stone excretion time,reduce usage rate of analgesic drug and the risk of renal colic,and alleviate pain.
10.Research status and ideas on protective effects of traditional Chinese medicine active monomers on tissues and organs based on Nrf2/GPX4 signaling pathway
Wu-zhen HUANG ; Si-ning CHEN ; Zhan-hua LI
Chinese Pharmacological Bulletin 2025;41(4):613-620
Ferroptosis is a cell death pattern associated with the regulation of the Nrf2/GPX4 signaling pathway.Activating the Nrf2/GPX4 signaling pathway can regulate the expression of genes and proteins related to oxidative stress,alleviate stress damage,and inhibit cell ferroptosis.At present,research on the intervention of traditional Chinese medicine in ferroptosis has made certain progress.Through literature research,it can be found that some traditional Chinese medicine active monomers can activate the Nrf2/GPX4 signaling pathway to inhibit ferrop-tosis,play a protective role in tissues and organs,and have ther-apeutic potential in various diseases.Some traditional Chinese medicine active monomers exhibit characteristics of multi organ protective effects and bidirectional regulation.This article discus-ses the relevant research on the inhibition of ferroptosis by acti-vating the Nrf2/GPX4 signaling pathway with traditional Chinese medicine active monomers,and proposes suggestions to provide reference and ideas for further basic and applied research.

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