1.Mechanism of mitochondrial oxidative phosphorylation disorder in male infertility.
Kai MENG ; Qian LIU ; Yiding QIN ; Wenjie QIN ; Ziming ZHU ; Longlong SUN ; Mingchao JIANG ; Joseph ADU-AMANKWAAH ; Fei GAO ; Rubin TAN ; Jinxiang YUAN
Chinese Medical Journal 2025;138(4):379-388
Male infertility has become a global concern, accounting for 20-70% of infertility. Dysfunctional spermatogenesis is the most common cause of male infertility; thus, treating abnormal spermatogenesis may improve male infertility and has attracted the attention of the medical community. Mitochondria are essential organelles that maintain cell homeostasis and normal physiological functions in various ways, such as mitochondrial oxidative phosphorylation (OXPHOS). Mitochondrial OXPHOS transmits electrons through the respiratory chain, synthesizes adenosine triphosphate (ATP), and produces reactive oxygen species (ROS). These mechanisms are vital for spermatogenesis, especially to maintain the normal function of testicular Sertoli cells and germ cells. The disruption of mitochondrial OXPHOS caused by external factors can result in inadequate cellular energy supply, oxidative stress, apoptosis, or ferroptosis, all inhibiting spermatogenesis and damaging the male reproductive system, leading to male infertility. This article summarizes the latest pathological mechanism of mitochondrial OXPHOS disorder in testicular Sertoli cells and germ cells, which disrupts spermatogenesis and results in male infertility. In addition, we also briefly outline the current treatment of spermatogenic malfunction caused by mitochondrial OXPHOS disorders. However, relevant treatments have not been fully elucidated. Therefore, targeting mitochondrial OXPHOS disorders in Sertoli cells and germ cells is a research direction worthy of attention. We believe this review will provide new and more accurate ideas for treating male infertility.
Male
;
Humans
;
Infertility, Male/metabolism*
;
Oxidative Phosphorylation
;
Mitochondria/metabolism*
;
Spermatogenesis/physiology*
;
Sertoli Cells/metabolism*
;
Oxidative Stress/physiology*
;
Animals
;
Reactive Oxygen Species/metabolism*
2.TCM treatment for gastro-esophageal reflux disease from 2018 to 2023:an overview of systematic reviews
Xueyan JIA ; Jinxiang LIU ; Huan CHEN ; Haifeng HE ; Xiaoquan DU
International Journal of Traditional Chinese Medicine 2025;47(4):541-548
Objective:To overview the systematic reviews/meta-analyses of TCM treatment for gastroesophageal reflux disease (GERD); To provide evidence-based support for clinical decision-making in the treatment of GERD with Chinese materia medica.Methods:Systematic reviews/meta-analyses of RCTs about the treatment of GERD with Chinese materia medica were retrieved from databases of CNKI, Wanfang Data, Chongqing VIP, CBM, EMbase, PubMed and Cochrane Library from January 1, 2018 to December 31, 2023. AMSTAR 2 scale, PRISMA 2020 and GRADE system were used to evaluate the methodological quality, reporting quality and evidence quality of the included studies.Results:A total of 19 systematic reviews/meta-analyses were included. The AMSTAR 2 evaluation showed that 17 of the included studies were rated as low-quality, and 2 were rated as extremely low-quality. The PRISMA 2020 evaluation results showed that the included literature scored 14.5-21 points, with 18 articles having certain reporting defects and 1 article having serious reporting defects. The GRADE evaluation results showed 1 high-quality index, 31 medium-quality indexes, 34 low-quality indexes, and 10 extremely low-quality indexes.Conclusion:TCM has a certain therapeutic effect on GERD, but the overall methodological quality, reporting quality, and evidence quality still need to be further improved.
3.Effects of Yishen Yangyin Gujing Prescription on Transforming Growth Factor β1,Sphingosine-1-Phosphate,NLRP3 Inflammasome and Pancreatic β-cell Function of Type 2 Diabetic Mellitus Patients with Diabetic Nephropathy of Qiand Yin Deficiency Syndrome
Gangxin QIN ; Yanjin SU ; Jinxiang LIU ; Li ZHAO ; Huiling WANG ; Jinxin YANG
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(1):78-85
Objective To explore the efficacy of Yishen Yangyin Gujing Prescription[derived from Zuogui Wan(Bolus for Replenishing Kidney-Yin)]for the treatment of diabetic nephropathy in type 2 diabetes mellitus(T2DM)with qi and yin deficiency syndrome,and to observe its effects on inflammatory responses,pancreatic β-cell function and renal function.Methods A total of 162 T2DM patients with diabetic nephropathy of qi and yin deficiency syndrome who admitted to the Affiliated Hospital of Shaanxi University of Chinese Medicine from May 2020 to July 2023 were randomly divided into an observation group and a control group according to the random number table method,with 81 cases in each group.The control group was given conventional western medicine treatment for lowering blood pressure and renal protection,while the observation group was treated with Yishen Yangyin Gujing Prescription on the basis of treatment for the control group.The course of treatment for the two groups covered 12 weeks.Before and after the treatment,the changes in the outcomes of the two groups were observed,and the outcomes included the total scores of traditional Chinese medicine(TCM)syndrome,insulin sensitivity index,insulin secretion index,24-h urine total protein quantification(24hUTP),and serum levels of glycosylated hemoglobin(HbA1c),fasting insulin(FINS),fasting blood glucose(FBG),serum creatinine(SCr),blood urea nitrogen(BUN),transforming growth factor β1(TGF-β1),NLRP3 inflammasome,interleukin 6(IL-6),superoxide dismutase(SOD)and sphingosine-1-phosphate(S1P).After treatment,the clinical efficacy of the two groups of patients was compared.Results(1)After 12-week treatment,the total effective rate of the observation group was 93.83%(76/81),and that of the control group was 83.95%(68/81).The intergroup comparison showed that the efficacy of the observation group was significantly superior to that of the control group(χ2=9.163,P<0.05).(2)After treatment,the insulin sensitivity index and insulin secretion index in the two groups of patients were increased(P<0.05)and the total scores of TCM syndromes were decreased(P<0.05)when compared with those before treatment,and the increase of insulin sensitivity index and insulin secretion index as well as the decrease of the total scores of TCM syndrome in the observation group was significantly superior to that in the control group(P<0.05).(3)After treatment,the serum levels of HbA1c,FINS,FBG,SCr,BUN and 24hUTP in the two groups of patients were decreased when compared with those before treatment(P<0.05),and the decrease of the above indicators in the observation group was significantly superior to that in the control group(P<0.05).(4)After treatment,the serum TGF-β1,IL-6,and NLRP3 inflammasome levels in the two groups of patients were decreased(P<0.05)and the serum S1P and SOD levels were increased(P<0.05)when compared with those before treatment,and the decrease of serum TGF-β1,IL-6,and NLRP3 inflammasome levels as well as the increase of serum S1P and SOD levels in the observation group was significantly superior to that in the control group(P<0.05).Conclusion For T2DM patients with diabetic nephropathy of qi and yin deficiency syndrome,the combined use of western medicine and Yishen Yangyin Gujing Prescription treatment is helpful to alleviate inflammatory response,improve the function of pancreatic β-cells,regulate the blood glucose level,improve renal function,and enhance the clinical efficacy.
4.Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene.
Lulu YAN ; Jinghui ZOU ; Juan CAO ; Jinxiang ZHANG ; Yuxin ZHANG ; Chunxiao HAN ; Yingwen LIU ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(4):460-468
OBJECTIVE:
To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA).
METHODS:
A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children's Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094).
RESULTS:
In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+PVS1+PP4) and likely pathogenic (PM2_Supporting+PM4+PM3+PP4), respectively. According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation.
CONCLUSION
The c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
Humans
;
Female
;
Pedigree
;
Membrane Proteins/genetics*
;
Male
;
Heart Defects, Congenital/genetics*
;
Kidney/abnormalities*
;
Pregnancy
;
Adult
;
Kidney Diseases/congenital*
;
Exome Sequencing
;
Mutation
;
Genetic Testing
5.Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene and a literature review
Lulu YAN ; Jinghui ZOU ; Juan CAO ; Jinxiang ZHANG ; Yuxin ZHANG ; Chunxiao HAN ; Yingwen LIU ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(4):460-468
Objective:To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA).Methods:A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children′s Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children′s Hospital of Ningbo University (Ethics No. EC2023-094).Results:①In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c. 344dup(p.L116Afs*32) and c. 90_104dup(p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c. 344dup(p.L116Afs*32) and c. 90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+ PVS1+ PP4) and likely pathogenic (PM2_Supporting+ PM4+ PM3+ PP4), respectively. ②According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. Conclusion:The c. 344dup(p.L116Afs*32) and c. 90_104dup(p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
6.Effects of light color on serum reproductive hormones and reproductive perform-ance of Fujian white rabbits
Dongjin CHEN ; Shikun SUN ; Lei SANG ; Chengfang GAO ; Jinxiang WANG ; Jie ZHANG ; Ming LIU ; Xiping XIE
Chinese Journal of Veterinary Science 2025;45(8):1776-1783
Healthy female rabbits aged 3.5 to 4.0 months were randomly divided into four groups:the white light group(control group A),the green light group(treatment group B),the red light group(treatment group C)and the blue light group(treatment group D)with 3 replicates in each group,and 12 rabbits in each replicate.The light intensity was set to 80 lx,and the light was 16 h per day for 6 days before artificial insemination.Three reproductive cycles were carried out to de-termine the reproductive performance of female rabbits under different light colors,such as the number of fetuses,total litter size,weaning litter weight and serum reproductive hormone content.The results showed that,according to the comprehensive statistics of three breeding cycles:(1)the melatonin levels in the green group and red group were significantly lower than those in white group(P<0.01),and the green group was significantly lower than the blue group(P<0.05);the levels of luteinizing hormone in green group and red group were significantly higher than those in white group(P<0.01);the follicle stimulating hormone in the green group was significantly high-er than in white group(P<0.05);the estradiol content in the green group was significantly higher than that in the white group and blue group(P<0.01),and significantly higher than that in the red group(P<0.05).(2)the conception rate of the group was significantly higher than that of the white group(P<0.01),and significantly higher than that of the red group and blue group(P<0.05).(3)the number of rabbits in the green group at 30 days of age was significantly higher than that in the red group and the blue group(P<0.05),and the litter weight at 30 days of age was significantly higher than that in the red group and the blue group(P<0.01),and significantly higher than that in the white group(P<0.05).In conclusion,the LED light belt is controlled by a dynamic light control system,the light intensity is set to 80 lx,and the light is 16 h a day for 6 d before artificial insemination.Green light can reduce the serum melatonin of Fujian white rabbits,which has the best comprehensive effect on the same period of conception rate and reproductive performance of Fujian white rabbits.
7.Effects of light color on serum reproductive hormones and reproductive perform-ance of Fujian white rabbits
Dongjin CHEN ; Shikun SUN ; Lei SANG ; Chengfang GAO ; Jinxiang WANG ; Jie ZHANG ; Ming LIU ; Xiping XIE
Chinese Journal of Veterinary Science 2025;45(8):1776-1783
Healthy female rabbits aged 3.5 to 4.0 months were randomly divided into four groups:the white light group(control group A),the green light group(treatment group B),the red light group(treatment group C)and the blue light group(treatment group D)with 3 replicates in each group,and 12 rabbits in each replicate.The light intensity was set to 80 lx,and the light was 16 h per day for 6 days before artificial insemination.Three reproductive cycles were carried out to de-termine the reproductive performance of female rabbits under different light colors,such as the number of fetuses,total litter size,weaning litter weight and serum reproductive hormone content.The results showed that,according to the comprehensive statistics of three breeding cycles:(1)the melatonin levels in the green group and red group were significantly lower than those in white group(P<0.01),and the green group was significantly lower than the blue group(P<0.05);the levels of luteinizing hormone in green group and red group were significantly higher than those in white group(P<0.01);the follicle stimulating hormone in the green group was significantly high-er than in white group(P<0.05);the estradiol content in the green group was significantly higher than that in the white group and blue group(P<0.01),and significantly higher than that in the red group(P<0.05).(2)the conception rate of the group was significantly higher than that of the white group(P<0.01),and significantly higher than that of the red group and blue group(P<0.05).(3)the number of rabbits in the green group at 30 days of age was significantly higher than that in the red group and the blue group(P<0.05),and the litter weight at 30 days of age was significantly higher than that in the red group and the blue group(P<0.01),and significantly higher than that in the white group(P<0.05).In conclusion,the LED light belt is controlled by a dynamic light control system,the light intensity is set to 80 lx,and the light is 16 h a day for 6 d before artificial insemination.Green light can reduce the serum melatonin of Fujian white rabbits,which has the best comprehensive effect on the same period of conception rate and reproductive performance of Fujian white rabbits.
8.Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene and a literature review
Lulu YAN ; Jinghui ZOU ; Juan CAO ; Jinxiang ZHANG ; Yuxin ZHANG ; Chunxiao HAN ; Yingwen LIU ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(4):460-468
Objective:To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA).Methods:A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children′s Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children′s Hospital of Ningbo University (Ethics No. EC2023-094).Results:①In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c. 344dup(p.L116Afs*32) and c. 90_104dup(p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c. 344dup(p.L116Afs*32) and c. 90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+ PVS1+ PP4) and likely pathogenic (PM2_Supporting+ PM4+ PM3+ PP4), respectively. ②According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. Conclusion:The c. 344dup(p.L116Afs*32) and c. 90_104dup(p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
9.Construction and analysis of prediction model of postoperative poor anastomotic healing in colorectal patients based on LASSO variable selection
Jinxiang HUANG ; Linjun MO ; Xiao LIU
Journal of Clinical Surgery 2024;32(6):621-625
Objective To construct a prediction model of postoperative poor anastomotic healing in colorectal patients based on LASS0 variable selection,and analyze the prediction efficiency of this model for anastomotic prognosis.Methods 215 patients with colorectal cancer who were treated in our hospital from March 2018 to January 2023 were prospectively included as the research object.All patients underwent laparoscopic radical resection of colorectal cancer,and all patients were followed up for 30 days after operation.They were divided into the poor healing group(24 cases)and the good healing group(191 cases)according to whether there was anastomotic malunion.The general data and clinical data of all patients were collected,and the characteristic factors with non-zero coefficient were screened by using LASSO regression model.Lasso-Logistics regression model was constructed to analyze the related factors leading to poor anastomosis healing,and the receiver operating characteristic curve(ROC)was drawn to calculate the area under receiver operating characteristic curve curve(AUC),sensitivity and specificity.Bootdtrap method was used to carry out 500 repeated sampling for verification.Results The number of male cases in poor healing group was significantly higher than that in good healing group.The levels of white blood cell WBC and C-reactive protein CRP in poor healing group were higher than those in good healing group(P<0.05).The operation time in the group with poor healing was longer than that in the group with good healing,the tumor diameter was more than 4 cm,the distance between the lower edge of the tumor and the perianal region was less than ≤ 7 cm,there were neoadjuvant chemotherapy before operation,and the number of patients with Ⅲ-Ⅳ was significantly higher than that in the group with good healing(P<0.05).Logistics regression screen showed that the operation time,preoperative neoadjuvant chemotherapy,the distance between the lower margin of tumor and perianal region and the growth of peripheral tumor were the predictive factors of poor anastomosis healing.According to Logistics regression,the ROC curve was drawn,and the AUC was 0.892(95%CI:0.813~0.945),the sensitivity was 75.81%,and the specificity was 89.47%.Youden index is 0.6528;Using Bootdtrap technology to draw the calibration curve of the model shows that the model has good prediction efficiency.Conclusion Long operation time,preoperative neoadjuvant chemotherapy,the distance between the lower edge of tumor and perianal region<7cm,and the growth of peripheral tumor are the risk factors for postoperative patients with colorectal cancer with poor anastomotic healing.The prediction model can be used to screen people with poor anastomotic healing and has good prediction efficiency.
10.Impact of inhaled corticosteroid use on elderly chronic pulmonary disease patients with community acquired pneumonia.
Xiudi HAN ; Hong WANG ; Liang CHEN ; Yimin WANG ; Hui LI ; Fei ZHOU ; Xiqian XING ; Chunxiao ZHANG ; Lijun SUO ; Jinxiang WANG ; Guohua YU ; Guangqiang WANG ; Xuexin YAO ; Hongxia YU ; Lei WANG ; Meng LIU ; Chunxue XUE ; Bo LIU ; Xiaoli ZHU ; Yanli LI ; Ying XIAO ; Xiaojing CUI ; Lijuan LI ; Xuedong LIU ; Bin CAO
Chinese Medical Journal 2024;137(2):241-243

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