Objective To explore and quantify the association of hot night exposure during the sperm development period(0–90 lag days) with semen quality.Methods A total of 6,640 male sperm donors from 6 human sperm banks in Chi...Objective To explore and quantify the association of hot night exposure during the sperm development period(0–90 lag days) with semen quality.Methods A total of 6,640 male sperm donors from 6 human sperm banks in China during 2014–2020were recruited in this multicenter study.Two indices(i.e.,hot night excess [HNE] and hot night duration[HND]) were used to estimate the heat intensity and duration during nighttime.Linear mixed models were used to examine the association between hot nights and semen quality parameters.Results The exposure-response relationship revealed that HNE and HND during 0–90 days before semen collection had a significantly inverse association with sperm motility.Specifically,a 1 ℃ increase in HNE was associated with decreased sperm progressive motility of 0.0090(95% confidence interval[CI]:–0.0147,–0.0033) and decreased total motility of 0.0094(95% CI:–0.0160,–0.0029).HND was significantly associated with reduced sperm progressive motility and total motility of 0.0021(95% CI:–0.0040,–0.0003) and 0.0023(95% CI:–0.0043,–0.0002),respectively.Consistent results were observed at different temperature thresholds on hot nights.Conclusion Our findings highlight the need to mitigate nocturnal heat exposure during spermatogenesis to maintain optimal semen quality.展开更多
Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this...Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.展开更多
Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong P...Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong Province,24,788 subjects with suspected thalassemia were genetically tested forα-andβ-thalassemia by GapPCR and reverse dot blot during 2018–2019.For suspected rare thalassemia cases,DNA sequencing was performed to identify rare and unknown thalassemia gene mutations.A total of 14,346 thalassemia carriers were detected,including 7,556 cases ofα-thalassemia with 25 genotypes and 8α-gene mutations identified,5,860 cases ofβ-thalassemia with 18 genotypes and 18β-gene mutations identified,and 930 cases of compoundα/β-thalassemia.Among them,the frequency of--SEA deletion was the highest inα-thalassemia(66.01%),followed by-α3.7(17.98%)and-α.24(8.22%),and the frequency of CD41-42(-TCTT)mutation was the highest inβ-thalassemia(38.38%),followed by IVS-II-654(C>T)(25.67%),-28(A>G)(15.76%),and CD17(10.01%).In addition,5 rare mutations(--THAI and HKαα,CD113,-90,and CD56)were found in the study population.Our results revealed molecular epidemiological background ofα-andβ-thalassemia in Guangdong Province,which can support optimization of thalassemia prevention and control strategies.We demonstrated that thalassemia is heterogeneous with significant geographical differences and population specificity.展开更多
Objective To identify genes that involved in spermatogenesis. Methods In order to screen the testis-specific genes, testes cDNA samples from BALB/c mice of different postnatal days (days 4, 9, 18, 35, 54 and 6 months...Objective To identify genes that involved in spermatogenesis. Methods In order to screen the testis-specific genes, testes cDNA samples from BALB/c mice of different postnatal days (days 4, 9, 18, 35, 54 and 6 months) were performed with mouse whole genome Affymetrix chip. The characteristics of the selected gene were analyzed by various bioinformatic tools. The expression profile of the selected gene was identified by RT-PCR. Results By analyzing the hybridization signals, a gene with a differential expression in the developmental stages of testis was identified. This gene was designated as TSF22. The full length cDNA of 1 597 bp contained an open reading frame of 570 bp which encoded a putative protein of 190 amino acids and a molecular weight of 22.106 kD. RT-PCR analysis revealed that TSF22 mRNA was exclusively expressed in mice testis. Conclusions TSF22, functions as a testis-specific transcription factor, may play important roles during spermatogenesis.展开更多
In order to identify novel genes involved in spermatogenesis, testis cDNA samples from Balb/C mice of different postnatal days were hybridized with the whole mouse genome Affymetrix chip to screen the testis-specific ...In order to identify novel genes involved in spermatogenesis, testis cDNA samples from Balb/C mice of different postnatal days were hybridized with the whole mouse genome Affymetrix chip to screen the testis-specific genes. The characteristics of the selected genes were analyzed by RT-PCR as well as other bioinformatic tools. A novel differentially expressed testis-specific gene (GenBank Accession No: NM_029042) in the developmental stages of testes was identified, and named TSCPA. Cellular mapping prediction of TSCPA indicated that its protein was probably expressed in nuclei, and one putative domain (aa 332 377) was anchoring domain of cAMP-dependent type Ⅱ PK. The result of subcellular localization of GFP-TSCPA fusion protein in Cos-7 cells showed that TSCPA protein was expressed in nuclei. RT-PCR analysis revealed that TSCPA was expressed specifically in mouse and human testis. TSCPA gene was expressed weakly in 21-day-old mouse testis and the expression was increased gradually from 38th day to 6th month of mouse testes. No expression of hTSCPA was found in cryptorchidism and Sertoli-cell-only syndrome patients. It was concluded that the expression profile of TSCPA in human and mice indicated that TSCPA might play an important role in spermatogenesis.展开更多
Piwi-interacting RNAs(piRNAs)is a novel class of non-coding RNAs.However,changes in piRNA expression profiles in recurrent spontaneous abortion(RSA)have not yet been investigated.The aim of this study was to identify ...Piwi-interacting RNAs(piRNAs)is a novel class of non-coding RNAs.However,changes in piRNA expression profiles in recurrent spontaneous abortion(RSA)have not yet been investigated.The aim of this study was to identify differentially expressed piRNAs in deciduas of RSA patients.Decidua tissues were collected by curettage from recruited RSA patients and normal early pregnant(NEP)women with their informed consent.Small RNA sequencing was used to evaluate the differences in piRNA expression profiles between RSA and NEP.The present results demonstrated that the counts of total piRNA reads in RSA samples were increased compared with those in NEP samples(0.21%vs.0.11%).Differential expression analysis identified 29 upregulated piRNAs and 18 downregulated piRNAs in RSA samples.RT-qPCR further confirmed that the expression levels of uniq-109625,uniq-89328,uniq-50651 and uniq-4569 were decreased in 8 RSA tissues,compared with 13 NEP tissues.Otherwise,pi-22628 and uniq-173406 were increased in 8 RSA tissues.Based on GO term and KEGG pathway analysis,we speculate that these piRNAs regulate RSA by targeting extracellular matrix component pathway,cell adhesion pathway and focal adhesion pathway.PiRNAs may be involved in RSA pathogenesis by target genes function on adhesion and extracellular matrix component.展开更多
Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown....Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown.To determine the ART results of ICSI using testicular sperm and ejaculated sperm from males with AZFc microdeletions,we searched Embase,Web of Science,and PubMed to conduct a systematic review and meta-analysis.The first meta-analysis results for 106 cycles in five studies showed no significant differences in the live birth rate between the testicular sperm group and the ejaculated sperm group(risk ratio:0.97,95%confidence interval[CI]:0.73-1.28,P=0.82).The second meta-analysis of 106 cycles in five studies showed no difference in the abortion rate between the testicular sperm group and ejaculated sperm group(risk ratio:1.06,95%Cl:0.54-2.06,P=0.87).The third meta-analysis of 386 cycles in seven studies showed no significant difference in clinical pregnancy rates between the testicular sperm group and the ejaculated sperm group(risk ratio:1.24,95%Cl:0.66-2.34,P=0.50).Inevitable heterogeneity weakened our results.However,our results indicated that testicular sperm and ejaculated sperm yield similar ART outcomes,representing a meaningful result for clinical treatment.More properly designed studies are needed to further confirm our conclusions.展开更多
Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains un...Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains unclear.In this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5.The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED groups.In addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism.Interestingly,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED.Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis.展开更多
Testicular two-dimensional ultrasound is a testing modality that is often used to evaluate azoospermia and other related diseases.With the continuous development of deep learning in recent years,the combination of dee...Testicular two-dimensional ultrasound is a testing modality that is often used to evaluate azoospermia and other related diseases.With the continuous development of deep learning in recent years,the combination of deep learning and testicular ultrasound appears unstoppable despite a lack of relevant standards.One of the major problems associated with the digitization of ultrasound images is the uneven quality of data however,and a standardized data source and acquisition process has not yet been developed.Such a standard could fill the current gap,and establish acquisition criteria for ultrasound images of testes during the male reproductive period,including grayscale ultrasound,shear wave elastography,and contrast-enhanced ultrasound.By following these guidelines the quality of testicular ultrasound images would be improved and standardized,which would lay a solid foundation for the standardization of testicular ultrasound images,and assist automated evaluation of testicular spermatogenic function of whole testis in azoospermic males.展开更多
Dear Editor,Male infertility is a multifactorial heterogeneous pathological condition affecting∼7%of men.Nonobstructive azoospermia(NOA)is one of the most severe male reproductive diseases and occurs in∼1%of men of ...Dear Editor,Male infertility is a multifactorial heterogeneous pathological condition affecting∼7%of men.Nonobstructive azoospermia(NOA)is one of the most severe male reproductive diseases and occurs in∼1%of men of reproductive age.1 However,its etiology remains elusive.展开更多
Objective:Optimal reference genes are critical for accurate normalization and reliable interpretation of gene expression quantification data.Recently,several strategies have been utilized for validating reference gene...Objective:Optimal reference genes are critical for accurate normalization and reliable interpretation of gene expression quantification data.Recently,several strategies have been utilized for validating reference genes in different human tissues.However,no universal reference genes have been described that accurately summarize transcriptional activity in human spermatozoa.Methods:Using quantitative reverse transcription-polymerase chain reaction(RT-qPCR),we evaluated ten commonly used candidate reference genes between two groups of human cryopreserved donor sperm with different pregnancy rates.We assessed the stability of reference genes using three different algorithms,namely geNorm,NormFinder,and BestKeeper.We then identified the most stable reference genes.Results:Male-enhanced antigen 1(MEA1)was identified as the most stably expressed reference gene,followed by testis-enhanced gene transcript(TEGT).Conclusions:We comprehensively identified MEA1 and TEGT as the most stably expressed reference genes for the normalization of gene expression data in human spermatozoa.展开更多
To the Editor:Montegazza in 1866 was the first to suggest banks for frozen human semen.[1]In 1981,China's first human sperm bank was successfully established at the CITIC Xiangya Hospital.During the previous four ...To the Editor:Montegazza in 1866 was the first to suggest banks for frozen human semen.[1]In 1981,China's first human sperm bank was successfully established at the CITIC Xiangya Hospital.During the previous four decades,from 1981 to 2020,there were 27 human sperm banks in Chinese mainland.Human sperm banks provide cryopreservation of spermatozoa services for males needing to preserve fertility for an extended period in the Chinese mainland.展开更多
Semen samples were collected from 1213 fertile men whose partners had a time-to-pregnancy (TTP) _〈12 months in Guangdong Province in Southern China, and semen parameters including semen volume, sperm concentration,...Semen samples were collected from 1213 fertile men whose partners had a time-to-pregnancy (TTP) _〈12 months in Guangdong Province in Southern China, and semen parameters including semen volume, sperm concentration, total counts, motility, and morphology were evaluated according to the World Health Organization (WHO) 2010 guideline. All semen parameters analyzed were normal in ~62.2% of the total samples, whereas 37.8% showed at least one of the semen parameters below normal threshold values. The fifth centiles (with 95% confidence intervals) were 1.3 (1.2-1.5) ml for semen volume, 20 x 106 (18x106- 20x106) m1-1 for sperm concentration, 40 x 106 (38x106-44x106) per ejaculate for total sperm counts, 48% (47%-53%) for vitality, 39% (36%-43%) for total motility, 25% (23%-27%) for sperm progressive motility, 5.0% (4%,5%) for normal morphology. The pH values ranged from 7.2 to 8.0 with the mean ~ standard deviation at 7.32 ~ 0.17. No effects of age and body mass index were found on semen parameters. Occupation, smoking and alcohol abuse, varicocele appeared to decrease semen quality. Sperm concentration, but not sperm morphology, is positively correlated with TTP, whereas vitality is negatively correlated with TTP. Our study provides the latest reference values for the semen parameters of Chinese fertile men in Guangdong Province, which are close to those described in the new WHO guidelines (5th Edition).展开更多
In mammals,both male and female gonads are derived from the bipotential gonadal primordium,i.e.,the genital ridge.Primordial germ cells(PGCs)are the germ cell progenitors that arise from the extraembryonic ectoderm,mi...In mammals,both male and female gonads are derived from the bipotential gonadal primordium,i.e.,the genital ridge.Primordial germ cells(PGCs)are the germ cell progenitors that arise from the extraembryonic ectoderm,migrate through the hindgut endoderm,and reach the genital ridge before sex determination[1].Both Sertoli cells and granulosa cells are derived from somatic cells in undifferentiated genital ridges.The differentiation of germ cells and gonadal somatic cells during gonad development is regulated by various factors,including transcription factors,epigenetic regulators,and environmental factors.The interactions between germ cells and somatic cells also play critical roles in gonad development and PGC differentiation.展开更多
Sperm DNA damage is recognized as an important biomarker of male infertility. To investigate this, sperm DNA damage was assessed by the sperm chromatin dispersion (SCD) test in semen and motile spermatozoa harvested...Sperm DNA damage is recognized as an important biomarker of male infertility. To investigate this, sperm DNA damage was assessed by the sperm chromatin dispersion (SCD) test in semen and motile spermatozoa harvested by combined density gradient centrifugation (DGC) and swim-up in 161 couples undergoing in vitro fertilization (IVF). Semen analysis and sperm DNA damage results were compared between couples who did or did not achieve pregnancy. The sperm DNA damage level was significantly different between the two groups (P 〈 0.05) and was negatively correlated with IVF outcomes. Logistic regression analysis confirmed that it was an independent predictor for achieving clinical pregnancy. The effects of different levels of sperm DNA damage on IVF outcomes were also compared. There were significant differences in day 3 embryo quality, blastocyst formation rate, and implantation and pregnancy rates (P 〈 0.05), but not in the basic fertilization rate between the two groups. Thus, sperm DNA damage as measured by the SCD appears useful for predicting the clinical pregnancy rate following IVF.展开更多
Sperm cryopreservation is an effective fertility preservation method for cancer patients before anticancer treatments. However, thereare little data on fertility preservation in large cohorts of patients with cancer i...Sperm cryopreservation is an effective fertility preservation method for cancer patients before anticancer treatments. However, thereare little data on fertility preservation in large cohorts of patients with cancer in southern China. This retrospective cross-sectionalstudy aimed to assess the fertility preservation status of 1034 newly diagnosed male patients with cancer in the Human SpermBank of Guangdong Province in southern China (Guangzhou, China). Of these, 302 patients had reproductive system tumors,mostly testicular cancers (99.0%), and 732 had other tumors, including lymphoma (33.1%), gastrointestinal cancer (16.3%),nasopharyngeal carcinoma (15.7%), leukemia (7.7%), sarcoma (3.6%), and others (23.6%). Patients with reproductive systemtumors had lower sperm concentration and prefreezing and post-thawing progressive motility than those with non-reproductive systemtumors (all P < 0.001). Differences in sperm concentration, progressive motility, and normal morphology rate were observed betweenpatients with and without anticancer surgery before sperm cryopreservation (all P < 0.05). As of April 30, 2022, 63 patients usedtheir cryopreserved sperm for assisted reproductive technology treatments and 39 pregnancies were achieved. This study providesvaluable data on the fertility preservation status in newly diagnosed cancer patients in southern China, demonstrating that patientswith reproductive system tumors had poor sperm quality for their pretreatment fertility preservation.展开更多
基金funded by the Guangdong Provincial Natural Science Foundation of China(No.2022A1515011517).
文摘Objective To explore and quantify the association of hot night exposure during the sperm development period(0–90 lag days) with semen quality.Methods A total of 6,640 male sperm donors from 6 human sperm banks in China during 2014–2020were recruited in this multicenter study.Two indices(i.e.,hot night excess [HNE] and hot night duration[HND]) were used to estimate the heat intensity and duration during nighttime.Linear mixed models were used to examine the association between hot nights and semen quality parameters.Results The exposure-response relationship revealed that HNE and HND during 0–90 days before semen collection had a significantly inverse association with sperm motility.Specifically,a 1 ℃ increase in HNE was associated with decreased sperm progressive motility of 0.0090(95% confidence interval[CI]:–0.0147,–0.0033) and decreased total motility of 0.0094(95% CI:–0.0160,–0.0029).HND was significantly associated with reduced sperm progressive motility and total motility of 0.0021(95% CI:–0.0040,–0.0003) and 0.0023(95% CI:–0.0043,–0.0002),respectively.Consistent results were observed at different temperature thresholds on hot nights.Conclusion Our findings highlight the need to mitigate nocturnal heat exposure during spermatogenesis to maintain optimal semen quality.
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033].
文摘Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033]。
文摘Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong Province,24,788 subjects with suspected thalassemia were genetically tested forα-andβ-thalassemia by GapPCR and reverse dot blot during 2018–2019.For suspected rare thalassemia cases,DNA sequencing was performed to identify rare and unknown thalassemia gene mutations.A total of 14,346 thalassemia carriers were detected,including 7,556 cases ofα-thalassemia with 25 genotypes and 8α-gene mutations identified,5,860 cases ofβ-thalassemia with 18 genotypes and 18β-gene mutations identified,and 930 cases of compoundα/β-thalassemia.Among them,the frequency of--SEA deletion was the highest inα-thalassemia(66.01%),followed by-α3.7(17.98%)and-α.24(8.22%),and the frequency of CD41-42(-TCTT)mutation was the highest inβ-thalassemia(38.38%),followed by IVS-II-654(C>T)(25.67%),-28(A>G)(15.76%),and CD17(10.01%).In addition,5 rare mutations(--THAI and HKαα,CD113,-90,and CD56)were found in the study population.Our results revealed molecular epidemiological background ofα-andβ-thalassemia in Guangdong Province,which can support optimization of thalassemia prevention and control strategies.We demonstrated that thalassemia is heterogeneous with significant geographical differences and population specificity.
基金This study was supported by grants from Chinese Natural Science Funds(No.30471728,No.30500543)Natural Science Funds of Guangdong Province(No.04007303)
文摘Objective To identify genes that involved in spermatogenesis. Methods In order to screen the testis-specific genes, testes cDNA samples from BALB/c mice of different postnatal days (days 4, 9, 18, 35, 54 and 6 months) were performed with mouse whole genome Affymetrix chip. The characteristics of the selected gene were analyzed by various bioinformatic tools. The expression profile of the selected gene was identified by RT-PCR. Results By analyzing the hybridization signals, a gene with a differential expression in the developmental stages of testis was identified. This gene was designated as TSF22. The full length cDNA of 1 597 bp contained an open reading frame of 570 bp which encoded a putative protein of 190 amino acids and a molecular weight of 22.106 kD. RT-PCR analysis revealed that TSF22 mRNA was exclusively expressed in mice testis. Conclusions TSF22, functions as a testis-specific transcription factor, may play important roles during spermatogenesis.
基金supported by grants from Natural Science Foundation of Guangdong Province,China (No.7008952,No.7300931)National Natural Sciences Foundation of China (No.30700824)
文摘In order to identify novel genes involved in spermatogenesis, testis cDNA samples from Balb/C mice of different postnatal days were hybridized with the whole mouse genome Affymetrix chip to screen the testis-specific genes. The characteristics of the selected genes were analyzed by RT-PCR as well as other bioinformatic tools. A novel differentially expressed testis-specific gene (GenBank Accession No: NM_029042) in the developmental stages of testes was identified, and named TSCPA. Cellular mapping prediction of TSCPA indicated that its protein was probably expressed in nuclei, and one putative domain (aa 332 377) was anchoring domain of cAMP-dependent type Ⅱ PK. The result of subcellular localization of GFP-TSCPA fusion protein in Cos-7 cells showed that TSCPA protein was expressed in nuclei. RT-PCR analysis revealed that TSCPA was expressed specifically in mouse and human testis. TSCPA gene was expressed weakly in 21-day-old mouse testis and the expression was increased gradually from 38th day to 6th month of mouse testes. No expression of hTSCPA was found in cryptorchidism and Sertoli-cell-only syndrome patients. It was concluded that the expression profile of TSCPA in human and mice indicated that TSCPA might play an important role in spermatogenesis.
基金Supported by the National Natural Science Foundation of China Grants(No.81801523)the Natural Science Foundation of Guangdong Province(Nos.2017A030313789,2018A030313528,2019A1515011984)+3 种基金the Science and Technology Planning Foundation of Guangzhou City(201904010017,202102080102)Guangdong Province Medical Research Funding(No.A2021269)the Family Planning Research Institute Innovation Team of Guangdong Province grants(C-03)the Family Planning Research Institute of Guangdong Province Grants(S2018010).
文摘Piwi-interacting RNAs(piRNAs)is a novel class of non-coding RNAs.However,changes in piRNA expression profiles in recurrent spontaneous abortion(RSA)have not yet been investigated.The aim of this study was to identify differentially expressed piRNAs in deciduas of RSA patients.Decidua tissues were collected by curettage from recruited RSA patients and normal early pregnant(NEP)women with their informed consent.Small RNA sequencing was used to evaluate the differences in piRNA expression profiles between RSA and NEP.The present results demonstrated that the counts of total piRNA reads in RSA samples were increased compared with those in NEP samples(0.21%vs.0.11%).Differential expression analysis identified 29 upregulated piRNAs and 18 downregulated piRNAs in RSA samples.RT-qPCR further confirmed that the expression levels of uniq-109625,uniq-89328,uniq-50651 and uniq-4569 were decreased in 8 RSA tissues,compared with 13 NEP tissues.Otherwise,pi-22628 and uniq-173406 were increased in 8 RSA tissues.Based on GO term and KEGG pathway analysis,we speculate that these piRNAs regulate RSA by targeting extracellular matrix component pathway,cell adhesion pathway and focal adhesion pathway.PiRNAs may be involved in RSA pathogenesis by target genes function on adhesion and extracellular matrix component.
基金the Project of Medical Science and Technology Research Foundation of Guangdong Province(No.A2019336)Guangzhou Science and Technology Plan Project(No.201707010394).
文摘Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown.To determine the ART results of ICSI using testicular sperm and ejaculated sperm from males with AZFc microdeletions,we searched Embase,Web of Science,and PubMed to conduct a systematic review and meta-analysis.The first meta-analysis results for 106 cycles in five studies showed no significant differences in the live birth rate between the testicular sperm group and the ejaculated sperm group(risk ratio:0.97,95%confidence interval[CI]:0.73-1.28,P=0.82).The second meta-analysis of 106 cycles in five studies showed no difference in the abortion rate between the testicular sperm group and ejaculated sperm group(risk ratio:1.06,95%Cl:0.54-2.06,P=0.87).The third meta-analysis of 386 cycles in seven studies showed no significant difference in clinical pregnancy rates between the testicular sperm group and the ejaculated sperm group(risk ratio:1.24,95%Cl:0.66-2.34,P=0.50).Inevitable heterogeneity weakened our results.However,our results indicated that testicular sperm and ejaculated sperm yield similar ART outcomes,representing a meaningful result for clinical treatment.More properly designed studies are needed to further confirm our conclusions.
基金This work was supported by the National Natural Science Foundation of China(No.81901543,No.82071709,No.81901545,No.81971333,and No.82171599)the Key Research and Development Project of Anhui Province(2022e07020014)+2 种基金the Key Laboratory of Male Reproduction and Genetics of NHC(KF202003)the Joint Fund for Medical Artificial Intelligence(MAI2022Q010)the Joint Research Center for Genomic Resources(2017B01012-2021K001).
文摘Genetic risk factors have been shown to contribute to the development of sexual dysfunction.However,the role of methylenetetrahydrofolate reductase(MTHFR)gene variants in the risk of erectile dysfunction(ED)remains unclear.In this study,we recruited 1254 participants who underwent ED assessed by the International Index of Erectile Function-5.The MTHFR c.677C>T variant was also measured by fluorescence polymerase chain reaction(PCR).No significant difference in the genotypic frequency of the MTHFR C677T polymorphism(CC,CT,and TT)was observed between men from the ED and non-ED groups.In addition,on binary logistic regression analysis,both crude and adjusted models showed that the risk of ED was not significantly associated with the C677T polymorphism.Interestingly,a significantly higher frequency of the 677TT polymorphism was found in severe and moderate ED(P=O.02).The positive correlation between the MTHFR 677TT polymorphism and severe ED was confirmed by logistic regression analysis,even after adjusting for potential confounders(odds ratio[OR]=2.46,95%confidence interval[CI]:1.15-5.50,P=0.02).These findings suggest a positive correlation between the MTHFR 677TT polymorphism and the risk of severe ED.Identification of MTHFR gene polymorphisms may provide complementary information for ED patients during routineclinicaldiagnosis.
基金Funding for this project was received from Science and Tech-nology Planning Projects of Guangdong Province(Grant No.2018B010109008)National Key R&D Program of China(Grant No.2018YFC0116500)+1 种基金5010 Project of Clinical Research at Sun Yat-Sen University(Grant No.2019016)Guangdong Natural Science Foundation(Grant No.2020A151501523).
文摘Testicular two-dimensional ultrasound is a testing modality that is often used to evaluate azoospermia and other related diseases.With the continuous development of deep learning in recent years,the combination of deep learning and testicular ultrasound appears unstoppable despite a lack of relevant standards.One of the major problems associated with the digitization of ultrasound images is the uneven quality of data however,and a standardized data source and acquisition process has not yet been developed.Such a standard could fill the current gap,and establish acquisition criteria for ultrasound images of testes during the male reproductive period,including grayscale ultrasound,shear wave elastography,and contrast-enhanced ultrasound.By following these guidelines the quality of testicular ultrasound images would be improved and standardized,which would lay a solid foundation for the standardization of testicular ultrasound images,and assist automated evaluation of testicular spermatogenic function of whole testis in azoospermic males.
基金This work was supported by the National Key R&D Program of China(2018YFA0107702,2018YFC1004200)Strategic Priority Research Program of the Chinese Academy of Sciences(XDB19000000)+2 种基金The National Science Fund for Distinguished Young Scholars(81525011)Strategic Collaborative Research Program of the Ferring Institute of Reproductive Medicine,Ferring Pharmaceuticals and Chinese Academy of Sciences(FIRMC180307)The National Natural Science Foundation of China(31970785 and 31671496).
文摘Dear Editor,Male infertility is a multifactorial heterogeneous pathological condition affecting∼7%of men.Nonobstructive azoospermia(NOA)is one of the most severe male reproductive diseases and occurs in∼1%of men of reproductive age.1 However,its etiology remains elusive.
基金This work was supported by grants from the National Key Research and Development Program of China(2018YFC1003500)Medical Scientific Research Foundation of Guangdong Province of China(A2017531)。
文摘Objective:Optimal reference genes are critical for accurate normalization and reliable interpretation of gene expression quantification data.Recently,several strategies have been utilized for validating reference genes in different human tissues.However,no universal reference genes have been described that accurately summarize transcriptional activity in human spermatozoa.Methods:Using quantitative reverse transcription-polymerase chain reaction(RT-qPCR),we evaluated ten commonly used candidate reference genes between two groups of human cryopreserved donor sperm with different pregnancy rates.We assessed the stability of reference genes using three different algorithms,namely geNorm,NormFinder,and BestKeeper.We then identified the most stable reference genes.Results:Male-enhanced antigen 1(MEA1)was identified as the most stably expressed reference gene,followed by testis-enhanced gene transcript(TEGT).Conclusions:We comprehensively identified MEA1 and TEGT as the most stably expressed reference genes for the normalization of gene expression data in human spermatozoa.
基金Guangzhou Municipal Science and Technology Bureau(No.202002030480)Guangdong Provincial Natural Science Foundation(No.2021A1515011544)。
文摘To the Editor:Montegazza in 1866 was the first to suggest banks for frozen human semen.[1]In 1981,China's first human sperm bank was successfully established at the CITIC Xiangya Hospital.During the previous four decades,from 1981 to 2020,there were 27 human sperm banks in Chinese mainland.Human sperm banks provide cryopreservation of spermatozoa services for males needing to preserve fertility for an extended period in the Chinese mainland.
文摘Semen samples were collected from 1213 fertile men whose partners had a time-to-pregnancy (TTP) _〈12 months in Guangdong Province in Southern China, and semen parameters including semen volume, sperm concentration, total counts, motility, and morphology were evaluated according to the World Health Organization (WHO) 2010 guideline. All semen parameters analyzed were normal in ~62.2% of the total samples, whereas 37.8% showed at least one of the semen parameters below normal threshold values. The fifth centiles (with 95% confidence intervals) were 1.3 (1.2-1.5) ml for semen volume, 20 x 106 (18x106- 20x106) m1-1 for sperm concentration, 40 x 106 (38x106-44x106) per ejaculate for total sperm counts, 48% (47%-53%) for vitality, 39% (36%-43%) for total motility, 25% (23%-27%) for sperm progressive motility, 5.0% (4%,5%) for normal morphology. The pH values ranged from 7.2 to 8.0 with the mean ~ standard deviation at 7.32 ~ 0.17. No effects of age and body mass index were found on semen parameters. Occupation, smoking and alcohol abuse, varicocele appeared to decrease semen quality. Sperm concentration, but not sperm morphology, is positively correlated with TTP, whereas vitality is negatively correlated with TTP. Our study provides the latest reference values for the semen parameters of Chinese fertile men in Guangdong Province, which are close to those described in the new WHO guidelines (5th Edition).
基金supported by the National Key R&D Program of China(Grant No.2018YFA0107700)the National Natural Science Foundation of China(Grant Nos.32170855 and 31970785).
文摘In mammals,both male and female gonads are derived from the bipotential gonadal primordium,i.e.,the genital ridge.Primordial germ cells(PGCs)are the germ cell progenitors that arise from the extraembryonic ectoderm,migrate through the hindgut endoderm,and reach the genital ridge before sex determination[1].Both Sertoli cells and granulosa cells are derived from somatic cells in undifferentiated genital ridges.The differentiation of germ cells and gonadal somatic cells during gonad development is regulated by various factors,including transcription factors,epigenetic regulators,and environmental factors.The interactions between germ cells and somatic cells also play critical roles in gonad development and PGC differentiation.
文摘Sperm DNA damage is recognized as an important biomarker of male infertility. To investigate this, sperm DNA damage was assessed by the sperm chromatin dispersion (SCD) test in semen and motile spermatozoa harvested by combined density gradient centrifugation (DGC) and swim-up in 161 couples undergoing in vitro fertilization (IVF). Semen analysis and sperm DNA damage results were compared between couples who did or did not achieve pregnancy. The sperm DNA damage level was significantly different between the two groups (P 〈 0.05) and was negatively correlated with IVF outcomes. Logistic regression analysis confirmed that it was an independent predictor for achieving clinical pregnancy. The effects of different levels of sperm DNA damage on IVF outcomes were also compared. There were significant differences in day 3 embryo quality, blastocyst formation rate, and implantation and pregnancy rates (P 〈 0.05), but not in the basic fertilization rate between the two groups. Thus, sperm DNA damage as measured by the SCD appears useful for predicting the clinical pregnancy rate following IVF.
基金supported by Guangzhou Municipal Science and Technology Bureau(grant/award No.202002030480)NHC Key Laboratory of Male Reproduction and Genetics,Family Planning Research Institute of Guangdong Province(grant/award No.KF201905)Natural Science Foundation of Guangdong Province(grant/award No.2021A1515011544 and 2022A1515011705).
文摘Sperm cryopreservation is an effective fertility preservation method for cancer patients before anticancer treatments. However, thereare little data on fertility preservation in large cohorts of patients with cancer in southern China. This retrospective cross-sectionalstudy aimed to assess the fertility preservation status of 1034 newly diagnosed male patients with cancer in the Human SpermBank of Guangdong Province in southern China (Guangzhou, China). Of these, 302 patients had reproductive system tumors,mostly testicular cancers (99.0%), and 732 had other tumors, including lymphoma (33.1%), gastrointestinal cancer (16.3%),nasopharyngeal carcinoma (15.7%), leukemia (7.7%), sarcoma (3.6%), and others (23.6%). Patients with reproductive systemtumors had lower sperm concentration and prefreezing and post-thawing progressive motility than those with non-reproductive systemtumors (all P < 0.001). Differences in sperm concentration, progressive motility, and normal morphology rate were observed betweenpatients with and without anticancer surgery before sperm cryopreservation (all P < 0.05). As of April 30, 2022, 63 patients usedtheir cryopreserved sperm for assisted reproductive technology treatments and 39 pregnancies were achieved. This study providesvaluable data on the fertility preservation status in newly diagnosed cancer patients in southern China, demonstrating that patientswith reproductive system tumors had poor sperm quality for their pretreatment fertility preservation.