1.Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.
Fan YU ; Yinfang TU ; Yanfang ZHANG ; Tianwei GU ; Haoyong YU ; Xiangyu MENG ; Si CHEN ; Fengjing LIU ; Ke HUANG ; Tianhao BA ; Siqian GONG ; Danfeng PENG ; Dandan YAN ; Xiangnan FANG ; Tongyu WANG ; Yang HUA ; Xianghui CHEN ; Hongli CHEN ; Jie XU ; Rong ZHANG ; Linong JI ; Yan BI ; Xueyao HAN ; Hong ZHANG ; Cheng HU
Chinese Medical Journal 2025;138(9):1129-1131
2.Research progress of spinal-pelvic characteristics in adolescent patients with idiopathic scoliosis.
Zi-Cheng WEI ; Zhi-Zhen LYU ; Zi-Han HUA ; Qiong XIA ; Tao LI ; Yuan-Shen HUANG ; Chao YANG ; Li-Jiang LYU
China Journal of Orthopaedics and Traumatology 2025;38(10):1076-1082
Adolescent idiopathic scoliosis (AIS) is a common spinal deformity in adolescents, with potential causes etiologies associated with mesenchymal stem cells, genetic factors, histological features, and biomechanical aspects. Biomechanically, the pelvis, serving as the central and majort load-bearing structure, exhibits morphological and alignment abnormalities highly correlated with the development of AIS. Recent studies have extensively explored three-dimensional pelvic parameters and kinematics, demonstrating that abnormal pelvic characteristics may contribute to AIS onset and progression and are increasingly incorporated into clinical interventions. This review summarizes sagittal and coronal features of the spine-pelvis, as well as the influence of three-dimensional kinematic features on the pathogenesis of AIS, providing insights for advancing the study of spine-pelvis features related to AIS.
Humans
;
Scoliosis/pathology*
;
Adolescent
;
Spine/pathology*
;
Pelvis/pathology*
;
Biomechanical Phenomena
3.Single-incision laparoscopic totally extraperitoneal retrieval of retroperitoneal vas deferens in vasovasostomy for obstructive azoospermia patients postchildhood bilateral herniorrhaphy.
Chen-Wang ZHANG ; Wei-Dong WU ; Jun-Wei XU ; Jing-Peng ZHAO ; Er-Lei ZHI ; Yu-Hua HUANG ; Chen-Cheng YAO ; Fu-Jun ZHAO ; Zheng LI ; Peng LI
Asian Journal of Andrology 2025;27(1):137-138
4.Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.
Hao-Wei BAI ; Na LI ; Yu-Xiang ZHANG ; Jia-Qiang LUO ; Ru-Hui TIAN ; Peng LI ; Yu-Hua HUANG ; Fu-Rong BAI ; Cun-Zhong DENG ; Fu-Jun ZHAO ; Ren MO ; Ning CHI ; Yu-Chuan ZHOU ; Zheng LI ; Chen-Cheng YAO ; Er-Lei ZHI
Asian Journal of Andrology 2025;27(2):268-275
Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 ( MCMDC2 ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&E) demonstrated that MCMDC2 deleterious variants caused meiotic arrest in three patients (c.1360G>T, c.1956G>T, and c.685C>T) and hypospermatogenesis in one patient (c.94G>T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that MCMDC2 was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four MCMDC2 variants related to NOA, which contributes to the current perception of the function of MCMDC2 in male fertility and presents new perspectives on the genetic etiology of NOA.
Humans
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Male
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Azoospermia/genetics*
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Meiosis/genetics*
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Spermatogenesis/genetics*
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Adult
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Exome Sequencing
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Microtubule-Associated Proteins/genetics*
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Alleles
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Infertility, Male/genetics*
5.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
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Multiple Myeloma/therapy*
;
Etoposide/therapeutic use*
;
Hematopoietic Stem Cell Mobilization/methods*
;
Cyclophosphamide/therapeutic use*
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Granulocyte Colony-Stimulating Factor
;
Salvage Therapy
;
Peripheral Blood Stem Cells
;
Male
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Middle Aged
;
Female
;
Peripheral Blood Stem Cell Transplantation
6.Predictive value of bpMRI for pelvic lymph node metastasis in prostate cancer patients with PSA≤20 μg/L.
Lai DONG ; Rong-Jie SHI ; Jin-Wei SHANG ; Zhi-Yi SHEN ; Kai-Yu ZHANG ; Cheng-Long ZHANG ; Bin YANG ; Tian-Bao HUANG ; Ya-Min WANG ; Rui-Zhe ZHAO ; Wei XIA ; Shang-Qian WANG ; Gong CHENG ; Li-Xin HUA
National Journal of Andrology 2025;31(5):426-431
Objective: The aim of this study is to explore the predictive value of biparametric magnetic resonance imaging(bpMRI)for pelvic lymph node metastasis in prostate cancer patients with PSA≤20 μg/L and establish a nomogram. Methods: The imaging data and clinical data of 363 patients undergoing radical prostatectomy and pelvic lymph node dissection in the First Affiliated Hospital of Nanjing Medical University from July 2018 to December 2023 were retrospectively analyzed. Univariate analysis and multivariate logistic regression were used to screen independent risk factors for pelvic lymph node metastasis in prostate cancer, and a nomogram of the clinical prediction model was established. Calibration curves were drawn to evaluate the accuracy of the model. Results: Multivariate logistic regression analysis showed extrocapusular extension (OR=8.08,95%CI=2.62-24.97, P<0.01), enlargement of pelvic lymph nodes (OR=4.45,95%CI=1.16-17.11,P=0.030), and biopsy ISUP grade(OR=1.97,95%CI=1.12-3.46, P=0.018)were independent risk factors for pelvic lymph node metastasis. The C-index of the prediction model was 0.834, which indicated that the model had a good prediction ability. The actual value of the model calibration curve and the prediction probability of the model fitted well, indicating that the model had a good accuracy. Further analysis of DCA curve showed that the model had good clinical application value when the risk threshold ranged from 0.05 to 0.70.Conclusion: For prostate cancer patients with PSA≤20 μg/L, bpMRI has a good predictive value for the pelvic lymph node metastasis of prostate cancer with extrocapusular extension, enlargement of pelvic lymph nodes and ISUP grade≥4.
Humans
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Male
;
Prostatic Neoplasms/diagnostic imaging*
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Lymphatic Metastasis
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Retrospective Studies
;
Nomograms
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Prostate-Specific Antigen/blood*
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Lymph Nodes/pathology*
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Pelvis
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Predictive Value of Tests
;
Prostatectomy
;
Lymph Node Excision
;
Risk Factors
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Magnetic Resonance Imaging
;
Logistic Models
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Middle Aged
;
Aged
7.N 6-Methyladenosine modification of circDcbld2 in Kupffer cells promotes hepatic fibrosis via targeting miR-144-3p/Et-1 axis.
Sai ZHU ; Xin CHEN ; Lijiao SUN ; Xiaofeng LI ; Yu CHEN ; Liangyun LI ; Xiaoguo SUO ; Chuanhui XU ; Minglu JI ; Jianan WANG ; Hua WANG ; Lei ZHANG ; Xiaoming MENG ; Cheng HUANG ; Jun LI
Acta Pharmaceutica Sinica B 2025;15(1):296-313
Kupffer cells (KCs), as residents and sentinels of the liver, are involved in the formation of hepatic fibrosis (HF). However, the biological functions of circular RNAs (circRNAs) in KCs to HF have not been determined. In this study, the expression levels of circRNAs, microRNAs, and messenger RNAs (mRNAs) in KCs from a mouse model of HF mice were investigated using microarray and circRNA-Seq analyses. circDcbld2 was identified as a candidate circRNA in HF, as evidenced by its up-regulation in KCs. Silver staining and mass spectrometry showed that Wtap and Igf2bp2 bind to cirDcbld2. The suppression of circDcbld2 expression decreased the KC inflammatory response and oxidative stress and inhibited hepatic stellate cell (HSCs) activation, attenuating mouse liver fibrogenesis. Mechanistically, Wtap mediated the N 6-methyladenosine (m6A) methylation of circDcbld2, and Igf2bp2 recognized m6A-modified circDcbld2 and increased its stability. circDcbld2 contributes to the occurrence of HF by binding miR-144-3p/Et-1 to regulate the inflammatory response and oxidative stress. These findings indicate that circDcbld2 functions via the m6A/circDcbld2/miR-144-3p/Et-1 axis and may act as a potential biomarker for HF treatment.
8.A multicenter study of neonatal stroke in Shenzhen,China
Li-Xiu SHI ; Jin-Xing FENG ; Yan-Fang WEI ; Xin-Ru LU ; Yu-Xi ZHANG ; Lin-Ying YANG ; Sheng-Nan HE ; Pei-Juan CHEN ; Jing HAN ; Cheng CHEN ; Hui-Ying TU ; Zhang-Bin YU ; Jin-Jie HUANG ; Shu-Juan ZENG ; Wan-Ling CHEN ; Ying LIU ; Yan-Ping GUO ; Jiao-Yu MAO ; Xiao-Dong LI ; Qian-Shen ZHANG ; Zhi-Li XIE ; Mei-Ying HUANG ; Kun-Shan YAN ; Er-Ya YING ; Jun CHEN ; Yan-Rong WANG ; Ya-Ping LIU ; Bo SONG ; Hua-Yan LIU ; Xiao-Dong XIAO ; Hong TANG ; Yu-Na WANG ; Yin-Sha CAI ; Qi LONG ; Han-Qiang XU ; Hui-Zhan WANG ; Qian SUN ; Fang HAN ; Rui-Biao ZHANG ; Chuan-Zhong YANG ; Lei DOU ; Hui-Ju SHI ; Rui WANG ; Ping JIANG ; Shenzhen Neonatal Data Network
Chinese Journal of Contemporary Pediatrics 2024;26(5):450-455
Objective To investigate the incidence rate,clinical characteristics,and prognosis of neonatal stroke in Shenzhen,China.Methods Led by Shenzhen Children's Hospital,the Shenzhen Neonatal Data Collaboration Network organized 21 institutions to collect 36 cases of neonatal stroke from January 2020 to December 2022.The incidence,clinical characteristics,treatment,and prognosis of neonatal stroke in Shenzhen were analyzed.Results The incidence rate of neonatal stroke in 21 hospitals from 2020 to 2022 was 1/15 137,1/6 060,and 1/7 704,respectively.Ischemic stroke accounted for 75%(27/36);boys accounted for 64%(23/36).Among the 36 neonates,31(86%)had disease onset within 3 days after birth,and 19(53%)had convulsion as the initial presentation.Cerebral MRI showed that 22 neonates(61%)had left cerebral infarction and 13(36%)had basal ganglia infarction.Magnetic resonance angiography was performed for 12 neonates,among whom 9(75%)had involvement of the middle cerebral artery.Electroencephalography was performed for 29 neonates,with sharp waves in 21 neonates(72%)and seizures in 10 neonates(34%).Symptomatic/supportive treatment varied across different hospitals.Neonatal Behavioral Neurological Assessment was performed for 12 neonates(33%,12/36),with a mean score of(32±4)points.The prognosis of 27 neonates was followed up to around 12 months of age,with 44%(12/27)of the neonates having a good prognosis.Conclusions Ischemic stroke is the main type of neonatal stroke,often with convulsions as the initial presentation,involvement of the middle cerebral artery,sharp waves on electroencephalography,and a relatively low neurodevelopment score.Symptomatic/supportive treatment is the main treatment method,and some neonates tend to have a poor prognosis.
9.Analysis of the efficacy and safety of bone disease treatment in patients with newly diagnosed multiple myeloma treated with denosumab or zoledronic acid
Yi MA ; Xiubin XIAO ; Yaosheng LIU ; Xilin CHEN ; Shunzong YUAN ; Shihua ZHAO ; Yun LU ; Hua YIN ; Junli CHEN ; Yueqi WANG ; Na'na CHENG ; Pan FENG ; Wenrong HUANG
Chinese Journal of Hematology 2024;45(4):345-350
Objective:This study investigated the efficacy and safety of denosumab (DENOS) versus zoledronic acid (ZOL) in the bone disease treatment of newly diagnosed multiple myeloma.Methods:The clinical data of 80 patients with myeloma bone disease (MBD) at the Fifth Medical Center of PLA General Hospital between March 1, 2021 and June 30, 2023 were retrospectively reviewed. Eighteen patients with severe renal impairment (SRI, endogenous creatinine clearance rate<30 ml/min) were treated with DENOS, and 62 non-SRI patients were divided into DENOS (30 patients) and ZOL group (32 patients) .Results:Hypocalcemia was observed in 26 (33%) patients, and 22 patients developed hypocalcemia during the first treatment course. The incidence of hypocalcemia in the non-SRI patients of DENOS group was higher than that in the ZOL group [20% (6/30) vs 13% (4/32), P=0.028]. The incidence of hypocalcemia in SRI was 89% (16/18). Multivariate logistic regression analysis revealed that endogenous creatinine clearance rate<30 ml/min was significantly associated with hypocalcemia after DENOS administration ( P<0.001). After 1 month of antiresorptive (AR) drug application, the decrease in the serum β-C-terminal cross-linked carboxy-telopeptide of collagen type I concentrations of SRI and non-SRI patients in the DENOS group were significantly higher than that in the ZOL group (68% vs 59% vs 27%, P<0.001). The increase in serum procollagen type Ⅰ N-terminal propeptide concentrations of patients with or without SRI in the DENOS group were significantly higher than that in the ZOL group (34% vs 20% vs 11%, P<0.05). The level of intact parathyroid hormone in each group increased after AR drug treatment. None of the patients developed osteonecrosis of the jaw and renal adverse events, and no statistically significant differences in the overall response rate, complete remission and stringent complete remission rates were found among the groups ( P>0.05), and the median PFS and OS time were not reached ( P>0.05) . Conclusions:In the treatment of MBD, DENOS minimizes nephrotoxicity and has strong AR effect. Hypocalcemia is a common adverse event but is usually mild or moderate and manageable.
10.Clinical Observation on"Hegu Needling"Combined with"Joint Needling"in the Treatment of Chronic Lumbar Muscle Strain
Rui-Cheng YE ; Wen-Zhen LI ; Le TANG ; Hao LIN ; Huan-Huan HUANG ; Zhong-Hua YANG
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(8):2069-2074
Objective To observe the clinical efficacy of"hegu needling"combined with"joint needling"in the treatment of chronic lumbar muscle strain.Methods A total of 64 patients with chronic lumbar muscle strain were randomly divided into observation group and control group,32 cases in each group.The control group was treated with routine acupuncture,and the observation group was treated with"hegu needling"combined with"joint needling"on the basis of the control group.One week for a course of treatment,a total of two courses of treatment.After two weeks of treatment,the clinical efficacy of the two groups was evaluated,and the changes of Visual Analogue Scale(VAS)of pain score and simplified Oswestry Dysfunction Index questionnaire(simplified ODI)score were observed before and after treatment.The changes of spinal mobility were compared before and after treatment between the two groups.Results(1)The total effective rate was 93.75%(30/32)in the observation group and 78.13%(25/32)in the control group.The curative effect of the observation group was superior to that of the control group,and the difference was statistically significant(P<0.05).(2)After treatment,the simplified ODI score and spinal activity score of the two groups were significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving the simplified ODI score and spinal activity score,the differences were statistically significant(P<0.05).(3)After two weeks of treatment,the VAS scores of the two groups were significantly improved(P<0.05),and the observation group was significantly superior to the control group in improving the VAS score,the difference was statistically significant(P<0.05).After one month of treatment,there was no significant difference in VAS score of the observation group when compared with that after two weeks of treatment(P>0.05).Conclusion"Hegu needling"combined with"joint needling"in the treatment of chronic lumbar muscle strain can significantly improve the patients'pain symptoms,enhance the patient's waist function,and improve the patients'spinal mobility.

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