Pub Date : 2022-06-01DOI: 10.1097/RD9.0000000000000021
Mariana Lopes dos Santos, D. Randon, F. H. de Bitencourt, Fernanda Sperb-Ludwig, F. S. L. Vianna, C. Vargas, A. Sitta, I. Schwartz
Abstract Objectives: To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods: This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy–Weinberg equilibrium. Results: The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency = 0.0015, minimum frequency of MCADD = 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified. Conclusions: Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.
{"title":"Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil","authors":"Mariana Lopes dos Santos, D. Randon, F. H. de Bitencourt, Fernanda Sperb-Ludwig, F. S. L. Vianna, C. Vargas, A. Sitta, I. Schwartz","doi":"10.1097/RD9.0000000000000021","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000021","url":null,"abstract":"Abstract Objectives: To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods: This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy–Weinberg equilibrium. Results: The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency = 0.0015, minimum frequency of MCADD = 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified. Conclusions: Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"92 - 97"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43478429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-01DOI: 10.1097/RD9.0000000000000018
Zhong Chen, Yunqian Gao, Hua Xie, Yi-Chen Huang, Fang Chen, Y. Lei
Abstract Objective: To investigate the roles of transcription factors (TFs) in the etiology of complex human birth defects, including neural tube defects (NTDs), congenital heart diseases (CHDs), and hypospadias. Methods: We examined the overlap of genetically associated genes among NTDs, CHDs, and hypospadias. We then compared the expression profiles of these diseases based on all the detected genes and disease-associated TFs. The differentially expressed TFs that we obtained were further subjected to functional enrichment analysis to elucidate their role in the development of these birth defects. Results: TF genes were significantly enriched in complex birth defects (P = 5.95 × 10−24). NTDs, CHDs, and hypospadias showed distinct gene expression profiles compared with the controls. Although TFs could not efficiently separate CHDs from normal subjects, distinct gene expression profiles of TFs could distinguish NTDs and hypospadias from controls. Differentially expressed TFs can be used to characterize NTDs, hypospadias, and controls. The enriched TFs in biological processes (BPs) reflected the different morphological processes of NTDs, CHDs, and hypospadias. Conclusions: This study indicates that abnormal expression patterns of specific TFs may disrupt the normal requirements for developmental equilibrium through the related BPs. The investigation of genetically associated genes and gene expression profiles for the three different complex birth defects provides new insights into how the dysregulation of TFs influences their developmental process.
{"title":"Transcription factors dysregulated in three complex birth defects datasets","authors":"Zhong Chen, Yunqian Gao, Hua Xie, Yi-Chen Huang, Fang Chen, Y. Lei","doi":"10.1097/RD9.0000000000000018","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000018","url":null,"abstract":"Abstract Objective: To investigate the roles of transcription factors (TFs) in the etiology of complex human birth defects, including neural tube defects (NTDs), congenital heart diseases (CHDs), and hypospadias. Methods: We examined the overlap of genetically associated genes among NTDs, CHDs, and hypospadias. We then compared the expression profiles of these diseases based on all the detected genes and disease-associated TFs. The differentially expressed TFs that we obtained were further subjected to functional enrichment analysis to elucidate their role in the development of these birth defects. Results: TF genes were significantly enriched in complex birth defects (P = 5.95 × 10−24). NTDs, CHDs, and hypospadias showed distinct gene expression profiles compared with the controls. Although TFs could not efficiently separate CHDs from normal subjects, distinct gene expression profiles of TFs could distinguish NTDs and hypospadias from controls. Differentially expressed TFs can be used to characterize NTDs, hypospadias, and controls. The enriched TFs in biological processes (BPs) reflected the different morphological processes of NTDs, CHDs, and hypospadias. Conclusions: This study indicates that abnormal expression patterns of specific TFs may disrupt the normal requirements for developmental equilibrium through the related BPs. The investigation of genetically associated genes and gene expression profiles for the three different complex birth defects provides new insights into how the dysregulation of TFs influences their developmental process.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"79 - 85"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43023669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-01DOI: 10.1097/RD9.0000000000000020
J. H. da Silva, A. C. P. Terças-Trettel, Juliano André Boquett, G. V. França, A. C. Cardoso-dos-Santos, M. Atanaka, Marcelo Zagonel de Oliveira, A. P. Terra, Viviane Karoline Vivi, Lucia Andreia Nunes de Oliveira, Lucia Schaedler, Ronaldo Fernandes Santos Alves, L. Schuler‐Faccini
Abstract Objective: Prenatal infection with the Zika virus (ZIKV) can lead to congenital Zika syndrome (CZS), characterized by microcephaly and brain injury. However, there are questions regarding the prevalence of microcephaly/CZS after the ZIKV outbreak in defined geographic areas. This study aimed to identify adverse outcomes in live births of fetuses exposed in utero to the ZIKV, compared to unexposed births, as well as maternal sociodemographic, delivery, and birth characteristics. Methods: Here, we conducted a cross-sectional observational study to investigate the characteristics of all live births in the city of Tangará da Serra, Mato Grosso, Brazil, in 2016, after the outbreak of ZIKV infection in late 2015. All live births of children to women residing in the municipality of Tangará da Serra between January 1 and December 31, 2016, were evaluated, and head circumference was measured at birth and after 24 hours. Children born with microcephaly or a maternal history of confirmed or suspected prenatal ZIKV infection were evaluated by a multidisciplinary team. The outcomes of the exposed and non-exposed children were compared. Prevalence ratios and their respective 95% confidence intervals were calculated for sociodemographic, delivery, and live birth characteristics. Results: Of 1,441 live births, 106 (7.3%) were from mothers with confirmed or highly probable exposure to ZIKV. The prevalence of severe congenital microcephaly (41.7/10,000) in Tangará da Serra in 2016 was ten-fold higher than that in Latin America before 2015. Conclusion: This study may serve as a model to investigate possible outbreaks of infections in a defined geographical space in the future.
摘要目的:产前感染寨卡病毒(Zika virus, ZIKV)可导致先天性寨卡综合征(congenital Zika syndrome, CZS)，以小头畸形和脑损伤为特征。然而，在确定的地理区域暴发寨卡病毒后，关于小头症/ cz的流行存在问题。本研究旨在确定在子宫内暴露于寨卡病毒的胎儿与未暴露于寨卡病毒的胎儿相比的活产不良后果，以及母亲的社会人口统计学、分娩和出生特征。方法:在此，我们进行了一项横断面观察研究，调查2015年底巴西马托格罗索州tangarar da Serra市寨卡病毒感染爆发后，2016年所有活产婴儿的特征。对2016年1月1日至12月31日期间居住在tangarar da Serra市的所有活产儿童进行了评估，并在出生时和24小时后测量了头围。一个多学科小组对出生时患有小头畸形或母亲产前确诊或疑似寨卡病毒感染史的儿童进行了评估。比较暴露儿童和未暴露儿童的结果。根据社会人口学、分娩和活产特征计算患病率和相应的95%置信区间。结果:在1441例活产中，106例(7.3%)来自确认或极可能暴露于寨卡病毒的母亲。2016年，坦噶达塞拉地区严重先天性小头症的患病率(41.7/10,000)是2015年之前拉丁美洲的10倍。结论:本研究可作为未来某一特定地理空间内可能发生的疫情调查模型。
{"title":"Microcephaly prevalence after the 2015 to 2016 Zika outbreak in Tangará da Serra, Brazil: a population-based study","authors":"J. H. da Silva, A. C. P. Terças-Trettel, Juliano André Boquett, G. V. França, A. C. Cardoso-dos-Santos, M. Atanaka, Marcelo Zagonel de Oliveira, A. P. Terra, Viviane Karoline Vivi, Lucia Andreia Nunes de Oliveira, Lucia Schaedler, Ronaldo Fernandes Santos Alves, L. Schuler‐Faccini","doi":"10.1097/RD9.0000000000000020","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000020","url":null,"abstract":"Abstract Objective: Prenatal infection with the Zika virus (ZIKV) can lead to congenital Zika syndrome (CZS), characterized by microcephaly and brain injury. However, there are questions regarding the prevalence of microcephaly/CZS after the ZIKV outbreak in defined geographic areas. This study aimed to identify adverse outcomes in live births of fetuses exposed in utero to the ZIKV, compared to unexposed births, as well as maternal sociodemographic, delivery, and birth characteristics. Methods: Here, we conducted a cross-sectional observational study to investigate the characteristics of all live births in the city of Tangará da Serra, Mato Grosso, Brazil, in 2016, after the outbreak of ZIKV infection in late 2015. All live births of children to women residing in the municipality of Tangará da Serra between January 1 and December 31, 2016, were evaluated, and head circumference was measured at birth and after 24 hours. Children born with microcephaly or a maternal history of confirmed or suspected prenatal ZIKV infection were evaluated by a multidisciplinary team. The outcomes of the exposed and non-exposed children were compared. Prevalence ratios and their respective 95% confidence intervals were calculated for sociodemographic, delivery, and live birth characteristics. Results: Of 1,441 live births, 106 (7.3%) were from mothers with confirmed or highly probable exposure to ZIKV. The prevalence of severe congenital microcephaly (41.7/10,000) in Tangará da Serra in 2016 was ten-fold higher than that in Latin America before 2015. Conclusion: This study may serve as a model to investigate possible outbreaks of infections in a defined geographical space in the future.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"98 - 103"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46906030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-01DOI: 10.1097/rd9.0000000000000022
R. Finnell
{"title":"Executive Editor-in-Chief's introduction for this Special Issue","authors":"R. Finnell","doi":"10.1097/rd9.0000000000000022","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000022","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41558547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-04-26DOI: 10.1097/RD9.0000000000000009
Lang Xia, Jing Du
Abstract Polycystic ovary syndrome (PCOS) is a heterogeneous reproductive disease that can cause infertility. The Hippo signaling pathway, a network highly conserved throughout evolution, maintains the balance between follicle proliferation and dormancy. Dynamic changes in primordial follicles cannot occur without the participation of biological signals and mechanical force; however, little is known about the mechanism by which biomechanical signaling triggers PCOS, especially in the context of primordial follicle development. To investigate the contribution of mechanical stress and the Hippo signaling pathway to the onset of PCOS, we searched the literature via the PubMed database, and inclusion and exclusion criteria were established to ensure the rigor of this research. We eventually included 54 publications in which Hippo signaling and mechanical force were suggested to play a vital role in the development of primordial follicles as well as elucidate the pathogenesis of PCOS. The Hippo pathway modulating follicle growth can be perturbed via extracellular mechanical stress caused by the stiff ovarian cortical environment in PCOS. Clinical intervention targeting the Hippo pathway can alter the activity of core Hippo members, such as the Yes-associated protein/transcriptional co-activator PDZ-binding motif complex. In some patients with PCOS, follicle overactivation can be attributed to the dysfunction of Hippo signal transduction. PCOS, a condition with various patterns, cannot be accurately explained by a single, specific mechanism. The present review identifies potential targets and therapeutic strategies for PCOS.
{"title":"Mechanical stress-induced Hippo signaling in respect to primordial follicle development and polycystic ovary syndrome pathogenesis","authors":"Lang Xia, Jing Du","doi":"10.1097/RD9.0000000000000009","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000009","url":null,"abstract":"Abstract Polycystic ovary syndrome (PCOS) is a heterogeneous reproductive disease that can cause infertility. The Hippo signaling pathway, a network highly conserved throughout evolution, maintains the balance between follicle proliferation and dormancy. Dynamic changes in primordial follicles cannot occur without the participation of biological signals and mechanical force; however, little is known about the mechanism by which biomechanical signaling triggers PCOS, especially in the context of primordial follicle development. To investigate the contribution of mechanical stress and the Hippo signaling pathway to the onset of PCOS, we searched the literature via the PubMed database, and inclusion and exclusion criteria were established to ensure the rigor of this research. We eventually included 54 publications in which Hippo signaling and mechanical force were suggested to play a vital role in the development of primordial follicles as well as elucidate the pathogenesis of PCOS. The Hippo pathway modulating follicle growth can be perturbed via extracellular mechanical stress caused by the stiff ovarian cortical environment in PCOS. Clinical intervention targeting the Hippo pathway can alter the activity of core Hippo members, such as the Yes-associated protein/transcriptional co-activator PDZ-binding motif complex. In some patients with PCOS, follicle overactivation can be attributed to the dysfunction of Hippo signal transduction. PCOS, a condition with various patterns, cannot be accurately explained by a single, specific mechanism. The present review identifies potential targets and therapeutic strategies for PCOS.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"121 - 128"},"PeriodicalIF":0.8,"publicationDate":"2022-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43441469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-01DOI: 10.1097/rd9.0000000000000011
He-feng Huang
{"title":"Year-end academic review of 2021: Advances in the field of birth defect prevention and control in China as of 2021","authors":"He-feng Huang","doi":"10.1097/rd9.0000000000000011","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000011","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42671044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-01DOI: 10.1097/RD9.0000000000000007
R. Chian
Abstract The source of human oocytes is directly associated with the success of infertility treatment and fertility preservation. The number of oocytes obtained is possibly correlated with the success rate in terms of live birth rates. However, oocyte quality must be refined such that the number of oocytes is not positively correlated with the quality of oocytes. Different ovarian stimulation protocols can be used to obtain numerous oocytes. However, oocyte quality should be considered the most important factor affecting infertility treatment and fertility preservation. Infertile women are generally willing to take health-related risks to achieve a live birth, and ovarian stimulation using high-dose hormonal treatments may be harmful for both women and infants. Therefore, successful infertility treatment and fertility preservation should be defined as the birth of a healthy baby at term without compromising the health and safety of the mother and infant. Therefore, the source of high-quality oocytes must be carefully considered prior to infertility treatment and fertility preservation.
{"title":"Source of human oocytes for infertility treatment and fertility preservation","authors":"R. Chian","doi":"10.1097/RD9.0000000000000007","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000007","url":null,"abstract":"Abstract The source of human oocytes is directly associated with the success of infertility treatment and fertility preservation. The number of oocytes obtained is possibly correlated with the success rate in terms of live birth rates. However, oocyte quality must be refined such that the number of oocytes is not positively correlated with the quality of oocytes. Different ovarian stimulation protocols can be used to obtain numerous oocytes. However, oocyte quality should be considered the most important factor affecting infertility treatment and fertility preservation. Infertile women are generally willing to take health-related risks to achieve a live birth, and ovarian stimulation using high-dose hormonal treatments may be harmful for both women and infants. Therefore, successful infertility treatment and fertility preservation should be defined as the birth of a healthy baby at term without compromising the health and safety of the mother and infant. Therefore, the source of high-quality oocytes must be carefully considered prior to infertility treatment and fertility preservation.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"6 - 12"},"PeriodicalIF":0.8,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43401685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-01DOI: 10.1097/RD9.0000000000000004
Tao Liu, Y. Lian, Ping Liu, Rong Li, Jie Yan, J. Qiao
Abstract Objective: To evaluate the effect of morphologic factors on survival rate (SR), pregnancy rate (PR), and implantation rate (IR) of human embryo vitrification following frozen embryo transfer (FET) on day 3 post-ovulation. Methods: Women undergoing FET (n = 921) with embryos cryopreserved by vitrification between 2012 and 2013 were enrolled in this retrospective cohort study. Results: Embryos with >9 blastomeres yielded the highest SR of 100%. Lower SR was observed in embryos with 5 to 6 (57.5%) and 4 blastomeres (41.4%). In terms of blastomere symmetry, the SR of embryos with equally sized blastomeres was significantly higher than that of embryos with unequally sized cells (82.5% vs. 64.6%, P < 0.05). As fragmentation increased, SR decreased from 92.1% to 20.6% (P < 0.05). Significant differences were observed among groups when analyzing PR and IR according to the 3 embryonic parameters before vitrification. Embryos with 13 to 16 blastomeres yielded the highest PR (39.5%) and IR (24.1%). The PR and IR of embryos with blastomeres of equal size were significantly higher than those with unequally sized blastomeres (36.5% vs. 21.7%, 23.7% vs. 12.4%, P < 0.05). After warming, embryos with 13 to 16 blastomeres yielded the highest PR and IR (40.9% and 24.2%, respectively). The PR and IR were observed to grow with an increase in the percentage of intact blastomeres (23.2%-38.2%, 14.2%-23.2%). Conclusions: These results show that vitrification methods do not effectively improve survival outcomes for embryos of poor quality and it is needed to develop a comprehensive vitrification protocol that considers all the practical aspects, including the current limitation regarding cleavage-stage embryos of poor quality.
{"title":"Effect of vitrification on clinical outcomes of cleavage-stage embryos with poor quality in human embryo cryopreservation","authors":"Tao Liu, Y. Lian, Ping Liu, Rong Li, Jie Yan, J. Qiao","doi":"10.1097/RD9.0000000000000004","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000004","url":null,"abstract":"Abstract Objective: To evaluate the effect of morphologic factors on survival rate (SR), pregnancy rate (PR), and implantation rate (IR) of human embryo vitrification following frozen embryo transfer (FET) on day 3 post-ovulation. Methods: Women undergoing FET (n = 921) with embryos cryopreserved by vitrification between 2012 and 2013 were enrolled in this retrospective cohort study. Results: Embryos with >9 blastomeres yielded the highest SR of 100%. Lower SR was observed in embryos with 5 to 6 (57.5%) and 4 blastomeres (41.4%). In terms of blastomere symmetry, the SR of embryos with equally sized blastomeres was significantly higher than that of embryos with unequally sized cells (82.5% vs. 64.6%, P < 0.05). As fragmentation increased, SR decreased from 92.1% to 20.6% (P < 0.05). Significant differences were observed among groups when analyzing PR and IR according to the 3 embryonic parameters before vitrification. Embryos with 13 to 16 blastomeres yielded the highest PR (39.5%) and IR (24.1%). The PR and IR of embryos with blastomeres of equal size were significantly higher than those with unequally sized blastomeres (36.5% vs. 21.7%, 23.7% vs. 12.4%, P < 0.05). After warming, embryos with 13 to 16 blastomeres yielded the highest PR and IR (40.9% and 24.2%, respectively). The PR and IR were observed to grow with an increase in the percentage of intact blastomeres (23.2%-38.2%, 14.2%-23.2%). Conclusions: These results show that vitrification methods do not effectively improve survival outcomes for embryos of poor quality and it is needed to develop a comprehensive vitrification protocol that considers all the practical aspects, including the current limitation regarding cleavage-stage embryos of poor quality.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"20 - 25"},"PeriodicalIF":0.8,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44562421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-01DOI: 10.1097/RD9.0000000000000003
Taniya Naz, Srinjoy Chakraborty, S. Saha
Abstract Both fatty acids (FAs) and calcium ions play important roles in contraceptive cycles via several systems. Polyunsaturated FAs (PUFAs) act as precursors for prostaglandin production and can alter the expression of numerous crucial catalysts that are involved in prostaglandin and steroid digestion. Lipids are essential components of cell membranes. A diet rich in PUFAs enhances sperm motility and viability. It also improves testis development and spermatogenesis in several domesticated animal species. Increased PUFA content in spermatozoa increases plasma membrane fluidity, which is important for fertilization. However, the major drawback of high dietary PUFA intake is that it increases the levels of reactive oxygen species in the body. An increase in reactive oxygen species levels markedly affects fertility. Calcium is an important component that acts as an intra-cellular secondary messenger and plays an important role in some of the physiological processes that occur in male gametes. Some of these processes include spermatogenesis, sperm motility, capacitation, acrosome response, and fusion of gametes. These processes are associated with calcium influx through ion protein channels. Dietary fat intake is associated with increased intestinal calcium absorption. In this review, we discuss the impact of lipids, particularly PUFAs and monounsaturated FAs, and calcium ions on male reproduction, along with their effects on each other.
{"title":"Role of fatty acids and calcium in male reproduction","authors":"Taniya Naz, Srinjoy Chakraborty, S. Saha","doi":"10.1097/RD9.0000000000000003","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000003","url":null,"abstract":"Abstract Both fatty acids (FAs) and calcium ions play important roles in contraceptive cycles via several systems. Polyunsaturated FAs (PUFAs) act as precursors for prostaglandin production and can alter the expression of numerous crucial catalysts that are involved in prostaglandin and steroid digestion. Lipids are essential components of cell membranes. A diet rich in PUFAs enhances sperm motility and viability. It also improves testis development and spermatogenesis in several domesticated animal species. Increased PUFA content in spermatozoa increases plasma membrane fluidity, which is important for fertilization. However, the major drawback of high dietary PUFA intake is that it increases the levels of reactive oxygen species in the body. An increase in reactive oxygen species levels markedly affects fertility. Calcium is an important component that acts as an intra-cellular secondary messenger and plays an important role in some of the physiological processes that occur in male gametes. Some of these processes include spermatogenesis, sperm motility, capacitation, acrosome response, and fusion of gametes. These processes are associated with calcium influx through ion protein channels. Dietary fat intake is associated with increased intestinal calcium absorption. In this review, we discuss the impact of lipids, particularly PUFAs and monounsaturated FAs, and calcium ions on male reproduction, along with their effects on each other.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"57 - 64"},"PeriodicalIF":0.8,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49259095","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-03-01DOI: 10.1097/RD9.0000000000000010
Minxin Chen, Ying Zhang, Qingqing Cai, Shuo Zhang, R. Xu, Hua Chen, Yuan-yuan Kang, Yue Wu, R. Chian, Cong-jian Xu
Abstract To summarize fertility preservation (FP) guidelines and consensus provided by medical facilities worldwide. Five reference databases (PubMed/Embase, China BioMedical Literature Database, ClinicalKey, Wanfang Data, and China Knowledge Resource Integrated) and 7 guideline databases (Guideline International Network, National Collaborating Centre for Women's and Children's Health, National Guideline Clearinghouse, The National Institute for Health and Care Excellence, Scottish Intercollegiate Guidelines Network, New Zealand Guideline Group, and Canadian Medical Association infobase) were searched. Official websites of societies were searched to find relevant guidelines and consensus, and guidelines and published systematic reviews and consensus were reviewed from inception through May 2021. A literature search was performed regarding guidance offered in professional facilities, and 304 records (including 4 in Chinese) of existing guidelines for full-text review were found. Moreover, 55 guidelines were identified after a manual search. The literature review demonstrated that FP guidance and options were unevenly distributed worldwide for women who wanted to post-pone pregnancy or had impaired fertility after gonadal toxicity. With promising cancer survival rates and diversified family decisions, more attention should be paid to the improvement and update of accessible guidelines and regulatory infrastructure to inform patients about the available options and empower them to make informed choices. Restrictions to such services can be gradually eased due to the efficacy and safety of certain FP techniques for the right candidates to initiate pregnancy conception.
{"title":"How fertility preservation guidelines have progressed worldwide: Potential implications and inspiration","authors":"Minxin Chen, Ying Zhang, Qingqing Cai, Shuo Zhang, R. Xu, Hua Chen, Yuan-yuan Kang, Yue Wu, R. Chian, Cong-jian Xu","doi":"10.1097/RD9.0000000000000010","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000010","url":null,"abstract":"Abstract To summarize fertility preservation (FP) guidelines and consensus provided by medical facilities worldwide. Five reference databases (PubMed/Embase, China BioMedical Literature Database, ClinicalKey, Wanfang Data, and China Knowledge Resource Integrated) and 7 guideline databases (Guideline International Network, National Collaborating Centre for Women's and Children's Health, National Guideline Clearinghouse, The National Institute for Health and Care Excellence, Scottish Intercollegiate Guidelines Network, New Zealand Guideline Group, and Canadian Medical Association infobase) were searched. Official websites of societies were searched to find relevant guidelines and consensus, and guidelines and published systematic reviews and consensus were reviewed from inception through May 2021. A literature search was performed regarding guidance offered in professional facilities, and 304 records (including 4 in Chinese) of existing guidelines for full-text review were found. Moreover, 55 guidelines were identified after a manual search. The literature review demonstrated that FP guidance and options were unevenly distributed worldwide for women who wanted to post-pone pregnancy or had impaired fertility after gonadal toxicity. With promising cancer survival rates and diversified family decisions, more attention should be paid to the improvement and update of accessible guidelines and regulatory infrastructure to inform patients about the available options and empower them to make informed choices. Restrictions to such services can be gradually eased due to the efficacy and safety of certain FP techniques for the right candidates to initiate pregnancy conception.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"34 - 41"},"PeriodicalIF":0.8,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43777789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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