Pub Date : 2022-07-12DOI: 10.1097/rd9.0000000000000028
A. Revelli, G. Gennarelli, Alessandro Ruffa
{"title":"Evidence in Reproductive Medicine","authors":"A. Revelli, G. Gennarelli, Alessandro Ruffa","doi":"10.1097/rd9.0000000000000028","DOIUrl":"https://doi.org/10.1097/rd9.0000000000000028","url":null,"abstract":"","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45790284","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 : 2022-07-12DOI: 10.1097/RD9.0000000000000030
Z. Rabiei, M. Shariati, Naser Mogharabian, R. Tahmasebi, Ashraf Ghiasi, Z. Motaghi
The focus of men’s health is within the context of preconception health and primary care, which involves a new method of engaging men’s attention to their preconception and general health. The aim of this review research is to offer health care practitioners a complete framework for men’s preconception care. From 2000 to October 2021, researchers examined electronic databases such as Web of Science, PubMed, Scopus, ScienceDirect, ProQuest, Cochrane, SAGE, Springer, UpToDate, and Google Scholar for published papers on men’s preconception care. Two independent authors assessed the quality of the included studies using techniques suitable for this type of investigation. Only 14 of the 835 studies that were found in the original search matched the inclusion criteria. Individual responsibility across the life span (evaluation of reproductive life plan, acquiring information about contraception) and risk assessment (age, medical and surgical history, medications, family history and genetic risks, social history, sexual health assessment, physical examination, laboratory testing, mental health, and intimate partner violence) are the two main topics of preconception care in men according to a review of studies. Our findings clearly demonstrated the critical components of a comprehensive preconception care approach for men. Therefore, preconception care for men remains a developing concept. Further research is required to develop standards for evaluating males during the preconception period.
男性健康的重点是在先入为主的健康和初级保健的背景下，这涉及到一种让男性关注其先入为主和总体健康的新方法。这项综述研究的目的是为卫生保健从业者提供一个完整的男性先入为主护理框架。从2000年到2021年10月，研究人员检查了Web of Science、PubMed、Scopus、ScienceDirect、ProQuest、Cochrane、SAGE、Springer、UpToDate和Google Scholar等电子数据库，以获取已发表的关于男性先入为主护理的论文。两位独立作者使用适用于此类调查的技术评估了纳入研究的质量。在最初的搜索中发现的835项研究中，只有14项符合纳入标准。整个生命周期的个人责任（评估生殖生活计划、获取避孕信息）和风险评估（年龄、医疗和手术史、药物、家族史和遗传风险、社会史、性健康评估、体检、实验室检测、心理健康和亲密伴侣暴力）是根据一项研究综述，男性的先入为主。我们的研究结果清楚地表明了男性全面的先入为主护理方法的关键组成部分。因此，对男性的先入为主的照顾仍然是一个发展中的概念。需要进一步的研究来制定在受孕期评估男性的标准。
{"title":"A review of guidelines, recommendations, and framework of men’s preconception care","authors":"Z. Rabiei, M. Shariati, Naser Mogharabian, R. Tahmasebi, Ashraf Ghiasi, Z. Motaghi","doi":"10.1097/RD9.0000000000000030","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000030","url":null,"abstract":"The focus of men’s health is within the context of preconception health and primary care, which involves a new method of engaging men’s attention to their preconception and general health. The aim of this review research is to offer health care practitioners a complete framework for men’s preconception care. From 2000 to October 2021, researchers examined electronic databases such as Web of Science, PubMed, Scopus, ScienceDirect, ProQuest, Cochrane, SAGE, Springer, UpToDate, and Google Scholar for published papers on men’s preconception care. Two independent authors assessed the quality of the included studies using techniques suitable for this type of investigation. Only 14 of the 835 studies that were found in the original search matched the inclusion criteria. Individual responsibility across the life span (evaluation of reproductive life plan, acquiring information about contraception) and risk assessment (age, medical and surgical history, medications, family history and genetic risks, social history, sexual health assessment, physical examination, laboratory testing, mental health, and intimate partner violence) are the two main topics of preconception care in men according to a review of studies. Our findings clearly demonstrated the critical components of a comprehensive preconception care approach for men. Therefore, preconception care for men remains a developing concept. Further research is required to develop standards for evaluating males during the preconception period.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"254 - 259"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46024405","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 : 2022-07-12DOI: 10.1097/RD9.0000000000000026
Jules Erick Hermann Ayekoue, Konan Guy Sylvère N’zi, Ako Aristide Berenger Ako, M. N’guessan, Yapi Guillaume Yayé, Founzégué Amadou Coulibaly, Allico Joseph Djaman
Objective: The relationship between mitochondrial DNA (mtDNA) polymorphisms and abnormalities in sperm quality has been the subject of several studies, with the objective of improving the treatment of male infertility. This study, which contributes to the identification of genetic markers of sperm abnormalities, was conducted to study mtDNA mutations in the asthenozoospermia profile. Methods: This case-control study included 30 patients with asthenozoospermia and 28 with normospermia after spermogram and spermocytogram analyses. After the extraction of total DNA from the spermatozoa of 58 ejaculates from these individuals using the phenol-chloroform method, the amplification of genes of interest in mtDNA using specific primers was performed by conventional polymerase chain reaction, and sequencing was used to detect mutations. Results: Male patients with asthenozoospermia in the tertiary sector had significantly more mutant- than wild-type (P = 0.0005) MT-CO II genes. Similarly, for the same gene, males with asthenozoospermia and primary infertility had significantly more mutants than the wild-type (P = 0.001). Sequencing revealed 29 mutations that were observed only with asthenozoospermia, which could be the basis for low sperm mobility. Conclusion: This study identified several mutations in mtDNA genes that could be considered genetic markers of asthenozoospermia if confirmed in a deeper study.
{"title":"Polymorphism of mitochondrial DNA genes involved in asthenozoospermia in infertile patients of Côte d’Ivoire","authors":"Jules Erick Hermann Ayekoue, Konan Guy Sylvère N’zi, Ako Aristide Berenger Ako, M. N’guessan, Yapi Guillaume Yayé, Founzégué Amadou Coulibaly, Allico Joseph Djaman","doi":"10.1097/RD9.0000000000000026","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000026","url":null,"abstract":"Objective: The relationship between mitochondrial DNA (mtDNA) polymorphisms and abnormalities in sperm quality has been the subject of several studies, with the objective of improving the treatment of male infertility. This study, which contributes to the identification of genetic markers of sperm abnormalities, was conducted to study mtDNA mutations in the asthenozoospermia profile. Methods: This case-control study included 30 patients with asthenozoospermia and 28 with normospermia after spermogram and spermocytogram analyses. After the extraction of total DNA from the spermatozoa of 58 ejaculates from these individuals using the phenol-chloroform method, the amplification of genes of interest in mtDNA using specific primers was performed by conventional polymerase chain reaction, and sequencing was used to detect mutations. Results: Male patients with asthenozoospermia in the tertiary sector had significantly more mutant- than wild-type (P = 0.0005) MT-CO II genes. Similarly, for the same gene, males with asthenozoospermia and primary infertility had significantly more mutants than the wild-type (P = 0.001). Sequencing revealed 29 mutations that were observed only with asthenozoospermia, which could be the basis for low sperm mobility. Conclusion: This study identified several mutations in mtDNA genes that could be considered genetic markers of asthenozoospermia if confirmed in a deeper study.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"38 - 43"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45347158","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}
Abstract Objective: Altered bile acid transformation induces low-grade chronic inflammation and may play an important role in the pathophysiology of polycystic ovary syndrome (PCOS). Liquiritincan regulate bile acid metabolism and anti-inflammatory properties; however, limited information is available regarding its therapeutic potential in PCOS. Methods: Female C57BL/6 mice were randomly assigned into four groups (n = 6 mice/group): the control, letrozole or dehydroepiandrosterone-induced PCOS groups, PCOS + 20 mg/kg liquiritin group, and control + liquiritin groups. After 21 days of treatment, the mice were euthanized, and the associated metabolism indications were investigated. Ovarian histological examinations were performed, and serum hormone concentration was measured. The expression of key genes involved in steroid hormone synthesis, ovarian follicle development, and ovulation was assessed. Results: Liquiritin reduced fasting blood glucose levels and increased insulin sensitivity compared to the PCOS group. Liquiritin also significantly decreased serum levels of total testosterone (P < 0.001) and dehydroepiandrosterone sulfate (P < 0.05) in the PCOS group. Histomorphological inspection of ovaries from the liquiritin group revealed fewer cystic dilated follicles than in the PCOS group. Moreover, liquiritinsignificantly (P < 0.01) decreased Cyp17a1, Cyp19a1, Fshr, Hsd3b2, Runx2, and Ccn2 mRNA expression compared to letrozole-induced PCOS. Conclusion: Liquiritin may be safe and helpful in ameliorating PCOS-associated hyperandrogenemia and hyperglycemia. However, clinical trials investigating different liquiritin dosages are needed to confirm these findings.
{"title":"Liquiritin ameliorates metabolic and endocrine alterations in a mouse model of polycystic ovary syndrome","authors":"Zhi Li, Yang Liu, Haixia Liu, Zhihua Wu, Cong-jian Xu, Feifei Zhang","doi":"10.1097/RD9.0000000000000025","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000025","url":null,"abstract":"Abstract Objective: Altered bile acid transformation induces low-grade chronic inflammation and may play an important role in the pathophysiology of polycystic ovary syndrome (PCOS). Liquiritincan regulate bile acid metabolism and anti-inflammatory properties; however, limited information is available regarding its therapeutic potential in PCOS. Methods: Female C57BL/6 mice were randomly assigned into four groups (n = 6 mice/group): the control, letrozole or dehydroepiandrosterone-induced PCOS groups, PCOS + 20 mg/kg liquiritin group, and control + liquiritin groups. After 21 days of treatment, the mice were euthanized, and the associated metabolism indications were investigated. Ovarian histological examinations were performed, and serum hormone concentration was measured. The expression of key genes involved in steroid hormone synthesis, ovarian follicle development, and ovulation was assessed. Results: Liquiritin reduced fasting blood glucose levels and increased insulin sensitivity compared to the PCOS group. Liquiritin also significantly decreased serum levels of total testosterone (P < 0.001) and dehydroepiandrosterone sulfate (P < 0.05) in the PCOS group. Histomorphological inspection of ovaries from the liquiritin group revealed fewer cystic dilated follicles than in the PCOS group. Moreover, liquiritinsignificantly (P < 0.01) decreased Cyp17a1, Cyp19a1, Fshr, Hsd3b2, Runx2, and Ccn2 mRNA expression compared to letrozole-induced PCOS. Conclusion: Liquiritin may be safe and helpful in ameliorating PCOS-associated hyperandrogenemia and hyperglycemia. However, clinical trials investigating different liquiritin dosages are needed to confirm these findings.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"104 - 112"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"61786272","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/RD9.0000000000000019
Dania María Pastora Bucardo, Paula Andrea Pimienta Ramírez
Abstract Objective: The prevalence of midline birth defects, such as gastroschisis, has increased worldwide, over the last few decades. This study aims to explore the prevalence, maternal epidemiological characteristics, and natural history of neonates affected by gastroschisis at the University Hospital of León city, Nicaragua. Methods: Data were collected from the birth defect surveillance system of the Hospital Oscar Danilo Rosales (HEODRA). The analysis included all pregnancies that had gastroschisis complications between January 1 and December 31, 2020. The prevalence of gastroschisis was calculated according to maternal age. The mothers were interviewed, and the clinical records of the newborns were reviewed. Results: Among the 4,460 deliveries included in this study, four cases of gastroschisis were identified, including three live births and one stillbirth. The gastroschisis rate was 8.9 per 10,000 live births (95% confidence interval [CI]: 0.18–17.8). The prevalence among mothers younger than 20 years and those older than 20 years was 26.4 (95% CI: –3.43 to 56.25) and 3.01 (95% CI: 2.89–8.90)/10,000 births, respectively. Mothers of gastroschisis-affected fetuses were of rural origin (n = 3), had normal body mass indexes (n = 3), were exposed to tobacco and wood smoke (n = 2), and one was exposed to pesticides during the periconceptional period. Primary closure of the gastroschisis was performed on one patient, and complex gastroschisis for intestinal perforation was observed in another patient. The mean hospitalization duration was 33 days, and two patients were discharged alive. Conclusions: Gastroschisis was a significant birth defect among children delivered at HEODRA in 2020. Its prevalence in Nicaragua was higher than that in other countries in the region. All complicated pregnancies were young women with unplanned pregnancies, from rural areas, with exposure to secondhand smoke, and without vitamin supplements before or during the first trimester of pregnancy. Only 67% of infants survived after hospital discharge.
{"title":"Gastroschisis at the León University Hospital, Nicaragua","authors":"Dania María Pastora Bucardo, Paula Andrea Pimienta Ramírez","doi":"10.1097/RD9.0000000000000019","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000019","url":null,"abstract":"Abstract Objective: The prevalence of midline birth defects, such as gastroschisis, has increased worldwide, over the last few decades. This study aims to explore the prevalence, maternal epidemiological characteristics, and natural history of neonates affected by gastroschisis at the University Hospital of León city, Nicaragua. Methods: Data were collected from the birth defect surveillance system of the Hospital Oscar Danilo Rosales (HEODRA). The analysis included all pregnancies that had gastroschisis complications between January 1 and December 31, 2020. The prevalence of gastroschisis was calculated according to maternal age. The mothers were interviewed, and the clinical records of the newborns were reviewed. Results: Among the 4,460 deliveries included in this study, four cases of gastroschisis were identified, including three live births and one stillbirth. The gastroschisis rate was 8.9 per 10,000 live births (95% confidence interval [CI]: 0.18–17.8). The prevalence among mothers younger than 20 years and those older than 20 years was 26.4 (95% CI: –3.43 to 56.25) and 3.01 (95% CI: 2.89–8.90)/10,000 births, respectively. Mothers of gastroschisis-affected fetuses were of rural origin (n = 3), had normal body mass indexes (n = 3), were exposed to tobacco and wood smoke (n = 2), and one was exposed to pesticides during the periconceptional period. Primary closure of the gastroschisis was performed on one patient, and complex gastroschisis for intestinal perforation was observed in another patient. The mean hospitalization duration was 33 days, and two patients were discharged alive. Conclusions: Gastroschisis was a significant birth defect among children delivered at HEODRA in 2020. Its prevalence in Nicaragua was higher than that in other countries in the region. All complicated pregnancies were young women with unplanned pregnancies, from rural areas, with exposure to secondhand smoke, and without vitamin supplements before or during the first trimester of pregnancy. Only 67% of infants survived after hospital discharge.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"86 - 91"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43214711","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/RD9.0000000000000014
Lu Yan, Yu-Fang Zheng
Abstract Cilia are microtubule-based filamentous organelles that play a vital role in embryogenesis. Multiple signal transduction pathways are orchestrated by cilia, such as Hedgehog and planar cell polarity signals. Various studies, spanning over last 2 decades, have emphasized the role of cilia-mediated signaling cascades in regulating neural tube patterning and development. Moreover, the deficiency of certain ciliary genes have been reported to cause neural tube defects (NTDs), which are a set of disorders that occur due to perturbation of normal neural tube closure. However, the mechanisms underlying cilia dysfunction resulting NTDs remain unclear. Recent studies have highlighted the association of phosphoinositide signaling with cilia, thereby conferring novel insights into the function of cilia during neural tube development. Here, we have reviewed recent studies on cilia, focusing on the molecular mechanism underlying the involvement of cilia in neural tube development and the role of ciliary disruption in the development of NTDs.
{"title":"Cilia and their role in neural tube development and defects","authors":"Lu Yan, Yu-Fang Zheng","doi":"10.1097/RD9.0000000000000014","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000014","url":null,"abstract":"Abstract Cilia are microtubule-based filamentous organelles that play a vital role in embryogenesis. Multiple signal transduction pathways are orchestrated by cilia, such as Hedgehog and planar cell polarity signals. Various studies, spanning over last 2 decades, have emphasized the role of cilia-mediated signaling cascades in regulating neural tube patterning and development. Moreover, the deficiency of certain ciliary genes have been reported to cause neural tube defects (NTDs), which are a set of disorders that occur due to perturbation of normal neural tube closure. However, the mechanisms underlying cilia dysfunction resulting NTDs remain unclear. Recent studies have highlighted the association of phosphoinositide signaling with cilia, thereby conferring novel insights into the function of cilia during neural tube development. Here, we have reviewed recent studies on cilia, focusing on the molecular mechanism underlying the involvement of cilia in neural tube development and the role of ciliary disruption in the development of NTDs.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"67 - 78"},"PeriodicalIF":0.8,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42186096","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/RD9.0000000000000021
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/RD9.0000000000000020
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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：