1.Clinical Efficacy of Tangning Tongluo Tablets for Nonproliferative Diabetic Retinopathy
Fuwen ZHANG ; Junguo DUAN ; Wen XIA ; Tiantian SUN ; Yuheng SHI ; Shicui MEI ; Xiangxia LUO ; Xing LI ; Yujie PAN ; Yong DENG ; Chuanlian RAN ; Hao CHEN ; Li PEI ; Shuyu YANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):132-139
ObjectiveTo observe the clinical efficacy and safety of Tangning Tongluo tablets in the treatment of nonproliferative diabetic retinopathy (DR). MethodsFourteen research centers participated in this study, which spanned a time interval from September 2021 to May 2023. A total of 240 patients with nonproliferative DR were included and randomly assigned into an observation group (120 cases) and a control group (120 cases). The observation group was treated with Tangning Tongluo tablets, and the control group with calcium dobesilate capsules. Both groups were treated for 24 consecutive weeks. The vision, DR progression rate, retinal microhemangioma, hemorrhage area, exudation area, glycosylated hemoglobin (HbA1c) level, and TCM syndrome score were assessed before and after treatment, and the safety was observed. ResultsThe vision changed in both groups after treatment (P<0.05), and the observation group showed higher best corrected visual acuity (BCVA) than the control group (P<0.05). The DR progression was slow with similar rates in the two groups. The fundus hemorrhage area and exudation area did not change significantly after treatment in both groups, while the observation group outperformed the control group in reducing the fundus hemorrhage area and exudation area. There was no significant difference in the number of microhemangiomas between the two groups before treatment. After treatment, the number of microhemangiomas decreased in both the observation group (Z=-1.437, P<0.05) and the control group (Z=-2.238, P<0.05), and it showed no significant difference between the two groups. As the treatment time prolonged, the number of microhemangiomas gradually decreased in both groups. There was no significant difference in the HbA1c level between the two groups before treatment. After treatment, the decline in the HbA1c level showed no significant difference between the two groups. The TCM syndrome score did not have a statistically significant difference between the two groups before treatment. After treatment, neither the TCM syndrome score nor the response rate had significant difference between the two groups. With the extension of the treatment time, both groups showed amelioration of TCM syndrome compared with the baseline. ConclusionTangning Tongluo tablets are safe and effective in the treatment of nonproliferative DR, being capable of improving vision and reducing hemorrhage and exudation in the fundus.
2.Clinical trial of intra-arterial tirofiban during mechanical thrombectomy for acute anterior circulation cerebral infarction
Jing-Liang MIN ; Ya-Ling GUO ; Xing-Chen ZHOU ; Hao WANG
The Chinese Journal of Clinical Pharmacology 2024;40(10):1395-1399
Objective To observe the application effect of intra-arterial tirofiban during mechanical thrombectomy for acute anterior circulation cerebral infarction.Methods The clinical data of patients with acute anterior circulation cerebral infarction were retrospectively analyzed.According to cohort method,they were divided into control group and treatment group.The control group was treated with mechanical thrombectomy,while the treatment group was additionally given intra-arterial therapy with tirofiban 0.25-0.5 mg on the basis of the control group.The perioperative indicators(surgical time,number of thrombectomy,vascular recanalization time,vascular recanalization rate),National Institutes of Health Stroke Scale(NIHSS)score before treatment and at 24 hours and 7 days after treatment,platelet indicators[mean platelet distribution width(PDW),mean platelet volume(MPV),plateletcrit(PCT)],hemorheological indicators[plasma viscosity(PV),low whole blood viscosity(LWBV),high whole blood viscosity(HWBV)],serum indicators[high-sensitivity C-reactive protein(hs-CRP),tumor necrosis factor-α(TNF-α),vascular endothelial growth factor(VEGF)]and clinical efficacy were compared,and the safety of the treatment regimen was assessed.Results There were 92 patients were finally included in this study,including 49 cases in control group and 43 cases in treatment group.The effective rates in treatment group and control group were 75.51%(37 cases/49 cases)and 93.02%(40 cases/43 cases),with significant difference(P<0.05).The surgical times in treatment group and control group were(93.53±9.86)and(91.59±8.36)min;the vascular recanalization times were(78.46±9.69)and(77.40±10.32)min;the vascular recanalization rates were 93.02%and 83.67%;the NIHSS scores were(10.32±2.90)and(9.59±2.84)points at 24 hours after treatment,all with no significant difference(all P>0.05).At 7 days after treatment,the NIHSS scores in treatment group and control group were(3.34±1.25)and(4.12±1.48)points;the PDW values were(12.58±1.81)%and(14.15±1.95)%;MPV values were(9.16±1.24)and(11.26±1.86)fL;PCT levels were(0.33±0.05)%and(0.29±0.04)%;PV values were(1.64±0.27)and(1.99±0.24)mPa·s-1;LWBV values were(4.16±0.48)and(5.01±0.49)mPa·s-1;HWBV values were(8.12±0.54)and(9.27±0.68)mPa·s-1;serum hs-CRP levels were(3.57±0.45)and(4.48±0.83)mg·L-1;TNF-α levels were(20.42±4.55)and(27.34±4.95)ng·L-1;VEGF levels were(738.80±52.41)and(664.72±41.68)ng·L-1,all with significant difference(all P<0.05).Incidence rates of adverse drug reactions in treatment group and control group were 8.16%(4 cases/49 cases)and 4.65%(2 cases/43 cases)respectively,with no significant difference(P>0.05).Conclusion Intra-arterial tirofiban therapy during thrombectomy for acute anterior circulation cerebral infarction has good neurological function and prognosis,and it may be related to the improvement of platelet function and cerebral tissue blood flow and relief of inflammatory response.
3.Analysis of the causes of cage subsidence after oblique lateral lumbar interbody fusion
Zhong-You ZENG ; Ping-Quan CHEN ; Xing ZHAO ; Hong-Fei WU ; Jian-Qiao ZHANG ; Xiang-Qian FANG ; Yong-Xing SONG ; Wei YU ; Fei PEI ; Shun-Wu FAN ; Guo-Hao SONG ; Shi-Yang FAN
China Journal of Orthopaedics and Traumatology 2024;37(1):33-44
Objective To observe the cage subsidence after oblique lateral interbody fusion(OLIF)for lumbar spondylo-sis,summarize the characteristics of the cage subsidence,analyze causes,and propose preventive measures.Methods The data of 144 patients of lumbar spine lesions admitted to our hospital from October 2015 to December 2018 were retrospectively ana-lyzed.There were 43 males and 101 females,and the age ranged from 20 to 81 years old,with an average of(60.90±10.06)years old.Disease types:17 patients of lumbar intervertebral disc degenerative disease,12 patients of giant lumbar disc hernia-tion,5 patients of discogenic low back pain,33 patients of lumbar spinal stenosis,26 patients of lumbar degenerative spondy-lolisthesis,28 patients of lumbar spondylolisthesis with spondylolisthesis,11 patients of adjacent vertebral disease after lumbar internal fixation,7 patients of primary spondylitis in the inflammatory outcome stage,and 5 patients of lumbar degenerative scoliosis.Preoperative dual-energy X-ray bone mineral density examination showed 57 patients of osteopenia or osteoporosis,and 87 patients of normal bone density.The number of fusion segments:124 patients of single-segment,11 patients of two-seg-ment,8 patients of three-segment,four-segment 1 patient.There were 40 patients treated by stand-alone OLIF,and 104 patients by OLIF combined with posterior pedicle screw.Observed the occurrence of fusion cage settlement after operation,conducted monofactor analysis on possible risk factors,and observed the influence of fusion cage settlement on clinical results.Results All operations were successfully completed,the median operation time was 99 min,and the median intraoperative blood loss was 106 ml.Intraoperative endplate injury occurred in 30 patients and vertebral fracture occurred in 5 patients.The mean follow-up was(14.57±7.14)months from 6 to 30 months.During the follow-up,except for the patients of primary lumbar interstitial in-flammation and some patients of lumbar spondylolisthesis with spondylolisthesis,the others all had different degrees of cage subsidence.Cage subsidence classification:119 patients were normal subsidence,and 25 patients were abnormal subsidence(23 patients were grade Ⅰ,and 2 patients were grade Ⅱ).There was no loosening or rupture of the pedicle screw system.The height of the intervertebral space recovered from the preoperative average(9.48±1.84)mm to the postoperative average(12.65±2.03)mm,and the average(10.51±1.81)mm at the last follow-up.There were statistical differences between postop-erative and preoperative,and between the last follow-up and postoperative.The interbody fusion rate was 94.4%.The low back pain VAS decreased from the preoperative average(6.55±2.2 9)to the last follow-up(1.40±0.82),and there was statistically significant different.The leg pain VAS decreased from the preoperative average(4.72±1.49)to the final follow-up(0.60± 0.03),and the difference was statistically significant(t=9.13,P<0.000 1).The ODI index recovered from the preoperative av-erage(38.50±6.98)%to the latest follow-up(11.30±3.27)%,and there was statistically significant different.The complication rate was 31.3%(45/144),and the reoperation rate was 9.72%(14/144).Among them,8 patients were reoperated due to fusion cage subsidence or displacement,accounting for 57.14%(8/14)of reoperation.The fusion cage subsidence in this group had obvious characteristics.The monofactor analysis showed that the number of abnormal subsidence patients in the osteopenia or osteoporosis group,Stand-alone OLIF group,2 or more segments fusion group,and endplate injury group was higher than that in the normal bone mass group,OLIF combined with pedicle screw fixation group,single segment fusion group,and no endplate injury group,and the comparison had statistical differences.Conclusion Cage subsidence is a common phenomenon after 0-LIF surgery.Preoperative osteopenia or osteoporosis,Stand-alone OLIF,2 or more segments of fusion and intraoperative end-plate injury may be important factors for postoperative fusion cage subsidence.Although there is no significant correlation be-tween the degree of cage subsidence and clinical symptoms,there is a risk of cage migration,and prevention needs to be strengthened to reduce serious complications caused by fusion of cage subsidence,including reoperation.
4.Establishment of a Multiplex Detection Method for Common Bacteria in Blood Based on Human Mannan-Binding Lectin Protein-Conjugated Magnetic Bead Enrichment Combined with Recombinase-Aided PCR Technology
Jin Zi ZHAO ; Ping Xiao CHEN ; Wei Shao HUA ; Yu Feng LI ; Meng ZHAO ; Hao Chen XING ; Jie WANG ; Yu Feng TIAN ; Qing Rui ZHANG ; Na Xiao LYU ; Qiang Zhi HAN ; Xin Yu WANG ; Yi Hong LI ; Xin Xin SHEN ; Jun Xue MA ; Qing Yan TIE
Biomedical and Environmental Sciences 2024;37(4):387-398
Objective Recombinase-aided polymerase chain reaction(RAP)is a sensitive,single-tube,two-stage nucleic acid amplification method.This study aimed to develop an assay that can be used for the early diagnosis of three types of bacteremia caused by Staphylococcus aureus(SA),Pseudomonas aeruginosa(PA),and Acinetobacter baumannii(AB)in the bloodstream based on recombinant human mannan-binding lectin protein(M1 protein)-conjugated magnetic bead(M1 bead)enrichment of pathogens combined with RAP. Methods Recombinant plasmids were used to evaluate the assay sensitivity.Common blood influenza bacteria were used for the specific detection.Simulated and clinical plasma samples were enriched with M1 beads and then subjected to multiple recombinase-aided PCR(M-RAP)and quantitative PCR(qPCR)assays.Kappa analysis was used to evaluate the consistency between the two assays. Results The M-RAP method had sensitivity rates of 1,10,and 1 copies/μL for the detection of SA,PA,and AB plasmids,respectively,without cross-reaction to other bacterial species.The M-RAP assay obtained results for<10 CFU/mL pathogens in the blood within 4 h,with higher sensitivity than qPCR.M-RAP and qPCR for SA,PA,and AB yielded Kappa values of 0.839,0.815,and 0.856,respectively(P<0.05). Conclusion An M-RAP assay for SA,PA,and AB in blood samples utilizing M1 bead enrichment has been developed and can be potentially used for the early detection of bacteremia.
5.Establishment and evaluation of a neutralizing antibody detection model for West Nile virus pseudovirus
Wanlu ZHU ; Nan CHEN ; Xiangjun HAO ; Junjuan FENG ; Xing LU ; Jing WANG ; Guojiang CHEN ; Chunxia QIAO ; Xinying LI ; Chenghua LIU ; Beifen SHEN ; Jiannan FENG ; Jun ZHANG ; He XIAO
Chinese Journal of Experimental and Clinical Virology 2024;38(2):188-192
Objective:To establish an in vivo infection model of West Nile virus (WNV) pseudovirus and evaluate the neutralizing activity of antibody WNV-XH1.Methods:A stable cell line that can package the WNV pseudovirus was established in the early stage to prepare the pseudovirus supernatant. The supernatant was concentrated and infected BHK21 cells to detect the titer of the pseudovirus. After intraperitoneal injection of the pseudovirus into C57BL/J mice, bioluminescence imaging was performed to observe the infection status of the pseudovirus in the mice. After simultaneous infection, blood was collected and ELISA was used to detect NS1 levels in mouse serum. The in vivo functional activity of antibody WNV-XH1 was evaluated using the established mouse infection model.Results:Fluorescence was detected in C57BL/J mice infected with WNV pseudovirus, and the NS1 levels in the peripheral blood serum of mice infected with pseudovirus were significantly higher than those of non infected mice (1.453±0.09vs0.305±0.018). After intravenous administration of WNV-XH1 antibody before the attack, the fluorescence signal in the mice decreased and the serum NS1 level decreased (0.384±0.015).Conclusions:A successful in vivo infection model of WNV pseudovirus was established, and it was confirmed that the antibody WNV-XH1 had a protective effect against WNV pseudovirus infection in vivo.
6.Chinese expert consensus on diagnosis and treatment of total anomalous pulmonary venous connection
Rui CHEN ; Quansheng XING ; Hao ZHANG ; Shoujun LI
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2024;31(10):1385-1391
Total anomalous pulmonary venous connection (TAPVC) is a relatively rare but complex congenital heart disease characterized by the anomalous drainage of the pulmonary veins. Rather than connecting to the left atrium, the pulmonary veins drain either directly or indirectly into the systemic venous circulation or the right atrium via abnormal pathways. While there is broad consensus on the diagnostic criteria for TAPVC, significant debate persists regarding the optimal timing of surgical intervention, preferred surgical techniques, and postoperative management including re-intervention strategies. This article formulates a Chinese consensus based on evidence-based data from the literature and opinions from domestic experts, with the goal of further standardizing the surgical treatment of TAPVC in China.
7.Clinical Efficacy of Xuanfei Yipi Formula in Treating Senile Sarcopenia and Its Effect on Chronic Low-Grade Inflammation of the Patients
Hui-Pei AO ; Shi-Xing HAO ; Hui-Cong LI ; Zhao-Bang CHEN ; Ji-Ying HAI ; Yu-Qing LIU ; Xiao-Lu MIAO
Journal of Guangzhou University of Traditional Chinese Medicine 2024;41(11):2931-2936
Objective To investigate the clinical efficacy of Xuanfei Yipi Formula,a prescription derived from modified Jianpi Pill recorded in Yi Fang Ji Jie(A Collection of Prescriptions with Expositions),in treating senile sarcopenia with spleen-stomach weakness type,and to observe its effect on chronic low-grade inflammation of the patients.Methods Seventy cases of senile sarcopenia patients of spleen-stomach weakness type were randomly divided into an observation group and a control group,with 35 cases in each group.The control group was given exercise and nutritional guidance,while the observation group was treated with Xuanfei Yipi Formula orally on the basis of the control group,and the intervention time of both groups was eight weeks.The changes of traditional Chinese medicine(TCM)syndrome scores,appendicular skeletal muscle mass index(ASMI),grip strength,6-meter walking pace,and the serum levels of C-reactive protein(CRP),interleukin 6(IL-6),tumor necrosis factor α(TNF-α)in the two groups before and after treatment were observed.After treatment,the clinical efficacy and safety of the patients in the two groups were evaluated.Results(1)After eight weeks of treatment,the total effective rate in the observation group was 94.29%(33/35),and that in the control group was 77.14%(27/35),the intergroup comparison(by chi-square test)showed that the efficacy of the observation group was significantly superior to that of the control group(P<0.05).(2)After treatment,the TCM syndrome scores in the two groups were significantly lower than those before treatment(P<0.05),and the decrease of TCM syndrome score in the observation group was more obviously than that in the control group(P<0.01).(3)After eight weeks of treatment,the ASMI,grip strength and 6-meter walking pace in the two groups were significantly higher than those before treatment,and the increase of ASMI and grip strength in the observation group was more obviously than that in the control group(P<0.05).(4)After eight weeks of treatment,the levels of serum CRP,IL-6,and TNF-α in the two groups were decreased significantly compared with those before treatment(P<0.05),and the decrease of serum CRP level in the observation group was more obviously than that in the control group(P<0.05).(5)During the treatment,no obvious adverse reactions occurred in both groups,and the safety indexes of liver and kidney functions of the patients were all within the normal range.Conclusion Xuanfei Yipi Formula can improve the clinical symptoms of senile sarcopenia patients,and its mechanism is probably related with the regulation of chronic low-grade inflammation.
8.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
9.Treatment of asthenoteratozoospermia with Jujing Decoction by improving the structure and function of sperm mitochondria via antioxidant stress based on the theory of"Yang-Qi transformation and Yin morphologization"
Qian FAN ; Yun CHEN ; Jian-Guo XUE ; Zhi-Xing SUN ; Qing WANG ; Hao-Ting CAI ; Feng-Juan CHANG
National Journal of Andrology 2024;30(9):813-818
Objective:To observe the clinical efficacy and action mechanism of Jujing Decoction(JJD)in the treatment of as-thenoteratozoospermia(ATZ)by comparing JJD with combined administration of the antioxidant stress drug and sperm energy metabo-lism agent.Methods:According to the inclusion criteria,we enrolled 67 male patients with ATZ in this randomized controlled clini-cal study and treated them by oral administration of JJD(the JJD group,n=34)or natural vitamin E combined with L-carnitine solu-tion(the positive control group,n=33),both for 12 weeks.We collected the semen parameters,sperm DNA fragmentation index(DFI),sperm mitochondrial membrane potential(MMP),seminal plasma reactive oxygen species(ROS)and superoxide dismutase(SOD)levels from the patients,observed the ultrastructure of sperm mitochondria under the transmission electron microscope(TEM)before and after treatment,and analyzed the clinical efficacy and action mechanism of JJD by comparing the data obtained between the two groups.Results:Treatment and follow-up were completed in 60 of the cases,30 in the JJD and 30 in the positive control group.The total rate of clinical effectiveness was significantly higher in the JJD than in the positive control group(76.8%vs 43.3%,P<0.05).Compared with the baseline,the percentages of progressively motile sperm(PMS)and morphologically normal sperm(MNS),DFI and MMP were significantly improved(P<0.05),the level of seminal plasma ROS decreased(P>0.05),and that of SOD re-markably increased(P<0.05)after treatment with JJD;PMS,MNS,DFI and MMP were also improved(P>0.05),seminal plas-ma ROS decreased(P>0.05)and SOD increased(P<0.05)in the positive controls after medication.In comparison with the posi-tive controls,the patients treated with JJD showed even more significant improvement in PMS([29.37±14.56]%vs[42.68±15.86]%,P<0.05),MNS([1.84±1.32]%vs[3.66±1.72%]%,P<0.05),DFI([32.66±5.23]%vs[16.61±4.20]%,P<0.05)and MMP([46.47±9.48]%vs[61.79±8.61]%,P<0.05),ROS([7.08±0.51]vs[5.06±0.52]μmol/L,P>0.05),and SOD([100.65±10.59]vs[139.05±14.71]U/ml,P<0.05).TEM revealed significantly improved ultrastructure of sperm mitochondria after treatment with JJD.No serious adverse reactions were observed in either group dur-ing follow-up.Conclusion:JJD,superior to natural vitamin E and L-carnitine oral solution,can safely and effectively increase the percentages of PMS and MNS,MMP and the level of seminal plasma SOD,reduce sperm DFI and seminal plasma ROS,and improve the ultrastructure of sperm mitochondria in patients with ATZ.The underlying mechanism of action may be related to its ability of im-proving the structure and function of sperm mitochondria via antioxidant stress.
10.Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
Qinghua ZHANG ; Shengju HAO ; Ling HUI ; Lei ZHENG ; Xing WANG ; Xuan FENG ; Furong LIU ; Xue CHEN ; Bingbo ZHOU ; Yupei WANG ; Chuan ZHANG
Chinese Journal of Medical Genetics 2024;41(3):306-311
Objective:To explore the genetic basis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency (OTCD) and MECP2 duplication syndrome.Methods:A proband who was admitted to the Neonatal Intensive Care Unit of Gansu Provincial Maternal and Child Health Care Hospital on December 19, 2017 was selected as the study subject. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were carried out for her pedigree, and short tandem repeat-based linkage analysis and chromosome copy number variation sequencing (CNV-seq) were used for the prenatal diagnosis.Results:The proband, a 3-day-old female, was found to harbor heterozygous deletion of exons 7-9 of the OTC gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PVS1+ PM2_Supporting+ PP4). The proband was diagnosed with OTCD, which was in keeping with her acute encephalopathy and metabolic abnormalities (manifesting as hyperammonemia, decreased blood citrulline, and increased urine orotic acid). Prenatal diagnosis was carried out for the subsequent pregnancy. The fetus did not harbor the exons 7-9 deletion of the OTC gene, but was found to carry a duplication in Xq28 region (which encompassed the whole region of MECP2 duplication syndrome) and was positive for the SRY sequence. The same duplication was also found in the proband and her mother. Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including OTCD and MECP2 duplication syndrome, and the fetus was determined as a male affected with the MECP2 duplication syndrome. Conclusion:Discoveries of the pathogenic variants underlying the OTCD and MECP2 duplication syndrome have enabled clinical intervention, treatment, genetic counseling and prenatal diagnosis for this pedigree.

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