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.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*
3.Design and application of a cardiopulmonary resuscitation compression depth limiting device.
Zhifang XUE ; Shuao ZHAO ; Hao LI ; Rongzhao GU ; Rong HUA ; Xianliang YAN
Chinese Critical Care Medicine 2025;37(2):180-182
During cardiopulmonary resuscitation (CPR), the depth of compression is a critical factor affecting the effectiveness of the rescue and the patient's prognosis. However, it is difficult to master the correct compression depth in manual CPR. If the compression depth is too deep, it may cause rib fractures, while insufficient compression depth may fail to establish effective circulation. Although most existing manual CPR compression depth control devices can indicate the depth but lack direct limiting functions. Against this background, led by a team of faculty and students from the Department of Emergency and Rescue Medicine at Xuzhou Medical University, on the basis of the development of a portable CPR protection device (National Invention Patent of China, patent number: ZL 2021 1 0309001.4), the device's compression depth limiting performance was further expanded, and then a new type of CPR compression depth limiting device suitable for different body types was developed. This device has applied for a National Invention Patent of China (patent application number: ZL 2023 1 0644910.2) and has been granted a National Utility Model Patent of China (patent number: ZL 2023 2 1384853.0). The device consists of a horizontal support beam, a vertical sliding beam, a guide block, a rotating shaft, a rotating arm, a limit slider and a limit pin. The horizontal support beams of the two limit devices are fixed horizontally to the horizontal side beams of the portable CPR protection device by bolts, and the connecting arms at the bottom of the vertical sliding beams are fixedly connected with the pressing mechanism, so that precise control of the pressing depth in CPR operation can be realized according to the patient's body size by the mechanical linkage of the vertical sliding beams and the rotating arms, as well as by the blocking and limiting effect of the rotating arms and the guiding blocks on the limiting sliders. It can prevent the occurrence of complications such as chest wall fractures, and thereby increase the success rate of manual CPR, and its structure is simple, low-cost, and suitable for social popularization.
Cardiopulmonary Resuscitation/instrumentation*
;
Humans
;
Equipment Design
;
Pressure
4.Comparison of anterior lateral ligament reconstruction and anterior lateral complex repair in the treatment of anterior cruciate ligament combined with anterior lateral ligament injury with high-grade pivot shift.
Xue-Feng JIA ; Qing-Hua WU ; Tong-Bo DENG ; Xiao-Zhen SHEN ; Jian-Ping YE ; He FANG ; Rong-Chang ZHOU ; Yang CAO ; You-Fen CHEN ; Qi-Ning YANG ; Guo-Hong XU
China Journal of Orthopaedics and Traumatology 2024;37(11):1101-1106
OBJECTIVE:
To retrospectively analyze the clinical efficacy of anterior cruciate ligament (ACL) reconstruction combined with anterolateral complex repair and ACL reconstruction combined with ALL reconstruction in the treatment of anterior cruciate ligament injuries with high-grade pivot shift.
METHODS:
From January 2018 to June 2022, 49 patients combined ACL and ALL injuries with high-grade pivot shift were retrospectively studied from three hospitals, 29 of them underwent ACL reconstruction with anterolateral complex repair (repair group), including 23 males and 6 females with an average age of (27.5±4.8) years old, ranged from 20 to 37 years old;the injured sides were 13 on the left and 16 on the right, and 11 patients were suffered with meniscus injury. The other 20 patients underwent ACL and ALL reconstruction (reconstruction group) including 17 males and 3 females with the mean age of (27.1±4.5) years old, ranged from 20 to 38 years old;the injured sides were 8 on the left and 12 on the right, and 6 patients were suffered with meniscus injury. Knee stability (pivot shift test, KT-2000), range of motion, knee function (Lysholm scoring scale, Cincinnati sports activity scale (CSAS) scoring scale, and Tegner activity level score between two groups were compared.
RESULTS:
A total of 49 patients were followed up, the repair group receiving 13 to 20(15.3±1.8) months and the reconstruction group receiving 12 to 21(16.0±2.2) months. There was no statistically significant difference in the preoperative pivot shift test grading distribution between two groups (P>0.05). At the last postoperative follow-up, there were 24 patients with grade 0 and 5 patients with grade 1 in the repair group, and there were 18 patients with grade 0 and 2 patients with grade 1 in the reconstruction group, there is no significant difference in the distribution of axial shift test grading between two groups(P>0.05). The preoperative KT-2000 tibial displacement of two groups were (9.39±0.77) mm (repair group) and (9.14±0.78) mm (reconstruction group) respectively, with no statistically significant difference (P>0.05). At the final postoperative follow-up, there were 24 patients with KT-2000 tibial displacement <3 mm and 5 patients with 3 to 5 mm in the repair group, while 18 patients with <3 mm and 2 patients with 3 to 5 mm in the reconstruction group, KT-2000 tibial displacement distribution of two groups was no significant difference (P>0.05), but the KT-2000 tibial displacement in the reconstruction group (1.30±0.86) mm was significantly smaller than that in the repair group (1.99±1.11) mm (P<0.05). The final postoperative follow-up range of motion of the contralateral side knee between two groups was no significant difference (P>0.05). The range of motion of the suffering knee in the repair group was less than that in the reconstruction group (P<0.05). There was no significant difference in preoperative Lysholm and CSAS scores between two groups (P>0.05). At the final postoperative follow-up, both groups showed significant improvement in Lysholm and CSAS scores, while the Lysholm and CSAS scores of the reconstruction group were better than those of the repair group, and the difference was statistically significant (P<0.05). Significant differences was found in Tegner scores between two groups, which 16 patients in the repair group returned to their pre-injury activity level, and 17 patients in the reconstruction group returned to their pre-injury level (P<0.05).
CONCLUSION
Compared to anterolateral complex repair, combined ACL and ALL reconstruction in the treatment of ACL injuries with high-grade pivot shift results in better knee joint function and stability. This is advantageous in reducing the risk of ACL reconstruction failure.
Humans
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Male
;
Female
;
Adult
;
Anterior Cruciate Ligament Reconstruction/methods*
;
Anterior Cruciate Ligament Injuries/surgery*
;
Young Adult
;
Retrospective Studies
;
Anterior Cruciate Ligament/surgery*
;
Range of Motion, Articular
5.Urban-rural disparities of depression symptoms and its influencing factors among the elderly aged ≥65 years old in Anhui Province from 2019 to 2020.
Xiu Ya XING ; Ye Ji CHEN ; Xiao Tong XU ; Hua Dong WANG ; Zhi Rong LIU
Chinese Journal of Preventive Medicine 2023;57(9):1396-1402
Objective: To analyze the difference in depression symptoms and influencing factors between urban and rural elderly people aged ≥65 years old in Anhui Province. Methods: Based on the data from a survey of 68 communities in Anhui Province that implemented the National Elderly Psychological Care Project from 2019 to 2020, the current status of depression symptoms in the elderly was evaluated using the Patient Health Questionnaire-9 (PHQ-9). The difference in the detection rate of depression symptoms between urban and rural elderly people with different characteristics was compared by using the χ2 test. The logistic regression model was used to analyze the relevant factors of depression symptoms in urban and rural elderly people. Results: A total of 15 532 elderly people aged≥65 years old were included in the survey. The detection rate of depressive symptoms was 7.12%, which was higher in rural areas (9.08%) than in urban areas (6.48%). Logistic regression showed that chronic diseases were risk factors for depressive symptoms in elderly people from both urban and rural areas. Positive attitudes towards aging and good mental resilience were protective factors for depressive symptoms in elderly people. Having hobby (OR=0.64, 95%CI: 0.45-0.91), good relationship with children (OR=0.56, 95%CI: 0.41-0.76), good relationship with spouse (OR=0.51, 95%CI: 0.37-0.71), and having at least 6 friends (OR=0.48, 95%CI: 0.32-0.71) were the protective factors for depressive symptoms in urban elderly people. A good relationship with neighbors (OR=0.58, 95%CI: 0.41-0.82) and having 1-2 friends (OR=0.40, 95%CI: 0.25-0.64) were the protective factors for depressive symptoms in rural elderly people. Women (OR=1.49, 95%CI: 1.06-2.10) and higher education level (OR=1.81, 95%CI: 1.19-2.74, compared with illiterate/semi-illiterate in primary school; OR=2.94, 95%CI: 1.82-4.76, compared with illiterate/semi-illiterate in junior high school and above) were the risk factors for depressive symptoms in rural elderly people. Conclusion: There are differences between urban and rural areas in depressive symptoms among elderly people in Anhui Province. The detection rate of depression symptoms among rural elderly people is higher, and the influencing factors of depressive symptoms between urban and rural elderly people are also different, which should be treated specifically in the implementation of intervention measures.
Child
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Aged
;
Humans
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Female
;
Depression/epidemiology*
;
Logistic Models
;
Risk Factors
;
Schools
6.To compare the efficacy and incidence of severe hematological adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia.
Xiao Shuai ZHANG ; Bing Cheng LIU ; Xin DU ; Yan Li ZHANG ; Na XU ; Xiao Li LIU ; Wei Ming LI ; Hai LIN ; Rong LIANG ; Chun Yan CHEN ; Jian HUANG ; Yun Fan YANG ; Huan Ling ZHU ; Ling PAN ; Xiao Dong WANG ; Gui Hui LI ; Zhuo Gang LIU ; Yan Qing ZHANG ; Zhen Fang LIU ; Jian Da HU ; Chun Shui LIU ; Fei LI ; Wei YANG ; Li MENG ; Yan Qiu HAN ; Li E LIN ; Zhen Yu ZHAO ; Chuan Qing TU ; Cai Feng ZHENG ; Yan Liang BAI ; Ze Ping ZHOU ; Su Ning CHEN ; Hui Ying QIU ; Li Jie YANG ; Xiu Li SUN ; Hui SUN ; Li ZHOU ; Ze Lin LIU ; Dan Yu WANG ; Jian Xin GUO ; Li Ping PANG ; Qing Shu ZENG ; Xiao Hui SUO ; Wei Hua ZHANG ; Yuan Jun ZHENG ; Qian JIANG
Chinese Journal of Hematology 2023;44(9):728-736
Objective: To analyze and compare therapy responses, outcomes, and incidence of severe hematologic adverse events of flumatinib and imatinib in patients newly diagnosed with chronic phase chronic myeloid leukemia (CML) . Methods: Data of patients with chronic phase CML diagnosed between January 2006 and November 2022 from 76 centers, aged ≥18 years, and received initial flumatinib or imatinib therapy within 6 months after diagnosis in China were retrospectively interrogated. Propensity score matching (PSM) analysis was performed to reduce the bias of the initial TKI selection, and the therapy responses and outcomes of patients receiving initial flumatinib or imatinib therapy were compared. Results: A total of 4 833 adult patients with CML receiving initial imatinib (n=4 380) or flumatinib (n=453) therapy were included in the study. In the imatinib cohort, the median follow-up time was 54 [interquartile range (IQR), 31-85] months, and the 7-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.2%, 88.4%, 78.3%, and 63.0%, respectively. The 7-year FFS, PFS, and OS rates were 71.8%, 93.0%, and 96.9%, respectively. With the median follow-up of 18 (IQR, 13-25) months in the flumatinib cohort, the 2-year cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) were 95.4%, 86.5%, 58.4%, and 46.6%, respectively. The 2-year FFS, PFS, and OS rates were 80.1%, 95.0%, and 99.5%, respectively. The PSM analysis indicated that patients receiving initial flumatinib therapy had significantly higher cumulative incidences of CCyR, MMR, MR(4), and MR(4.5) and higher probabilities of FFS than those receiving the initial imatinib therapy (all P<0.001), whereas the PFS (P=0.230) and OS (P=0.268) were comparable between the two cohorts. The incidence of severe hematologic adverse events (grade≥Ⅲ) was comparable in the two cohorts. Conclusion: Patients receiving initial flumatinib therapy had higher cumulative incidences of therapy responses and higher probability of FFS than those receiving initial imatinib therapy, whereas the incidence of severe hematologic adverse events was comparable between the two cohorts.
Adult
;
Humans
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Adolescent
;
Imatinib Mesylate/adverse effects*
;
Incidence
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Antineoplastic Agents/adverse effects*
;
Retrospective Studies
;
Pyrimidines/adverse effects*
;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy*
;
Treatment Outcome
;
Benzamides/adverse effects*
;
Leukemia, Myeloid, Chronic-Phase/drug therapy*
;
Aminopyridines/therapeutic use*
;
Protein Kinase Inhibitors/therapeutic use*
7. Changes of Nogo-A expression in hippocampus and striatum of rats under low estrogen condition
Wen-Juan WANG ; Yan-Rong SUN ; Han-Fei WANG ; Yu BAI ; Li-Hua QIN ; Yu-Tong DING ; Hao SU ; Jie REN ; Jia-Li LU ; Lin-Qian ZHANG
Acta Anatomica Sinica 2023;54(6):620-627
[Abstract] Objective To elucidate the important role of Nogo-A in climacteric neurodegeneration such as memory impairment by observing memory function and the expression of Nogo-A in hippocampus and striatum of rats under low estrogen condition. Methods Fouthy-five female SD rats were divided into sham operation group, ovariectomized group and ovariectomized estrogen treatment group with 15 rats in each group. Medication was given 2 weeks after ovariectomized. Estrogen treatment group was subcutaneously injected in groin with estrogen [25 μg/ (kg.d)] dissolved in sterile sesame oil. The sham operation group and the ovariectomized group were given the same amount of aseptic sesame oil. Samples were collected after 6 weeks of drug treatment. The difference of memory function of rats in three groups was observed by conditioned fear training experiment, and the expression of Nogo-A in hippocampus and striatum was observed by immunohistochemistry and Western blotting. Results Compared with the sham and estrogen treatment group, memory function in ovariectomized group decreased significantly and the number of Nogo-A positive neurons in hippocampus and striatum of ovariectomized rats was significantly higher than that of sham operation group (P < 0. 05). There was no difference between the estrogen treatment group and the sham operation group with the memory function and the Nogo-A expression (P > 0. 05). The result of immunoblotting was consistent with the above-mentioned immunohistochemical result. Conclusion The increased expression of Nogo-A in hippocampus and striatum under low estrogen condition may be one of the key reasons for memory impairment in climacteric women.
8.Ultrasonographic evaluation of the rete testis thickness: a promising approach to differentiate obstructive from nonobstructive azoospermia.
Xin LI ; Ru-Hui TIAN ; Peng LI ; Chun-Xiao LI ; Ming-Hua YAO ; Chen-Cheng YAO ; Xiao-Bo WANG ; Li-Ren JIANG ; Zheng LI ; Rong WU
Asian Journal of Andrology 2023;25(6):725-730
This study aimed to evaluate the ability of rete testis thickness (RTT) and testicular shear wave elastography (SWE) to differentiate obstructive azoospermia (OA) from nonobstructive azoospermia (NOA). We assessed 290 testes of 145 infertile males with azoospermia and 94 testes of 47 healthy volunteers at Shanghai General Hospital (Shanghai, China) between August 2019 and October 2021. The testicular volume (TV), SWE, and RTT were compared among patients with OA and NOA and healthy controls. The diagnostic performances of the three variables were evaluated using the receiver operating characteristic curve. The TV, SWE, and RTT in OA differed significantly from those in NOA (all P ≤ 0.001) but were similar to those in healthy controls. Males with OA and NOA were similar at TVs of 9-11 cm 3 ( P = 0.838), with sensitivity, specificity, Youden index, and area under the curve of 50.0%, 84.2%, 0.34, and 0.662 (95% confidence interval [CI]: 0.502-0.799), respectively, for SWE cut-off of 3.1 kPa; and 94.1%, 79.2%, 0.74, and 0.904 (95% CI: 0.811-0.996), respectively, for RTT cut-off of 1.6 mm. The results showed that RTT performed significantly better than SWE in differentiating OA from NOA in the TV overlap range. In conclusion, ultrasonographic RTT evaluation proved a promising diagnostic approach to differentiate OA from NOA, particularly in the TV overlap range.
Male
;
Humans
;
Azoospermia
;
Rete Testis
;
China
;
Testis
9.Study on the Efficacy of Cervi Colla in Yiqi Buxue Based on the Zebrafish Model
Yutong LIU ; Yong HUANG ; Hongyun MAO ; Tong ZHANG ; Jie CUI ; Mengyu LI ; Rong HOU ; Yunfeng ZHENG ; Yongqing HUA
Herald of Medicine 2023;42(12):1765-1771
Objective To quickly observe the tonic effects of Cervi Colla on enriching blood,strengthening bones and anti-aging in zebrafish model.Methods Glyphosate(Gly)was used to construct the erythrocyte injury model in adult zebrafish,and methotrexate(MTX)was used to construct the hematopoietic function injury model of juvenile zebrafish.Prednisolone(Pred)was used to establish the inhibition model of bone formation in zebrafish larvae.The ocular cell apoptosis model of zebrafish larvae was established by dibutyl phthalate(DBP).Results Cervi Colla could improve the Gly-induced abnormal erythrocyte nucleus in adult zebrafish and promote the expression of hematopoietic factors SCL and GATA1.Cervi Colla improved Pred-induced inhibition of bone formation in juvenile zebrafish,and promoted the expression of osteoblast-related gene ALP and Runx2a.The number of ocular cell apoptosis induced by DBP was decreased,and the expression of anti-apoptotic factor Bcl-2 was promoted.Conclusion Cervi Colla has significant effects on protecting erythrocyte,protecting hematopoiesis,protecting bone formation and anti-apoptosis.These effects may be related to replenish blood,anti-osteoporosis,and anti-aging.This study provides a scientific basis for the clinical application of Cervi Colla,and lays a foundation for further development and application.
10.Urban-rural disparities of depression symptoms and its influencing factors among the elderly aged ≥65 years old in Anhui Province from 2019 to 2020.
Xiu Ya XING ; Ye Ji CHEN ; Xiao Tong XU ; Hua Dong WANG ; Zhi Rong LIU
Chinese Journal of Preventive Medicine 2023;57(9):1396-1402
Objective: To analyze the difference in depression symptoms and influencing factors between urban and rural elderly people aged ≥65 years old in Anhui Province. Methods: Based on the data from a survey of 68 communities in Anhui Province that implemented the National Elderly Psychological Care Project from 2019 to 2020, the current status of depression symptoms in the elderly was evaluated using the Patient Health Questionnaire-9 (PHQ-9). The difference in the detection rate of depression symptoms between urban and rural elderly people with different characteristics was compared by using the χ2 test. The logistic regression model was used to analyze the relevant factors of depression symptoms in urban and rural elderly people. Results: A total of 15 532 elderly people aged≥65 years old were included in the survey. The detection rate of depressive symptoms was 7.12%, which was higher in rural areas (9.08%) than in urban areas (6.48%). Logistic regression showed that chronic diseases were risk factors for depressive symptoms in elderly people from both urban and rural areas. Positive attitudes towards aging and good mental resilience were protective factors for depressive symptoms in elderly people. Having hobby (OR=0.64, 95%CI: 0.45-0.91), good relationship with children (OR=0.56, 95%CI: 0.41-0.76), good relationship with spouse (OR=0.51, 95%CI: 0.37-0.71), and having at least 6 friends (OR=0.48, 95%CI: 0.32-0.71) were the protective factors for depressive symptoms in urban elderly people. A good relationship with neighbors (OR=0.58, 95%CI: 0.41-0.82) and having 1-2 friends (OR=0.40, 95%CI: 0.25-0.64) were the protective factors for depressive symptoms in rural elderly people. Women (OR=1.49, 95%CI: 1.06-2.10) and higher education level (OR=1.81, 95%CI: 1.19-2.74, compared with illiterate/semi-illiterate in primary school; OR=2.94, 95%CI: 1.82-4.76, compared with illiterate/semi-illiterate in junior high school and above) were the risk factors for depressive symptoms in rural elderly people. Conclusion: There are differences between urban and rural areas in depressive symptoms among elderly people in Anhui Province. The detection rate of depression symptoms among rural elderly people is higher, and the influencing factors of depressive symptoms between urban and rural elderly people are also different, which should be treated specifically in the implementation of intervention measures.
Child
;
Aged
;
Humans
;
Female
;
Depression/epidemiology*
;
Logistic Models
;
Risk Factors
;
Schools

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