Reproductive and Developmental Medicine最新文献

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Effect of pre-IVF incubation in maturation medium on oocyte maturity, fertilization, embryonic development, and clinical outcomes following embryo transfer 体外受精前在成熟培养基中孵育对卵母细胞成熟、受精、胚胎发育和胚胎移植后临床结果的影响
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-07-12 DOI: 10.1097/RD9.0000000000000029
Jian-Hua Li, Jian-Ye Wang, Tingting Jiao, Min Li, Yanjiao Wei, Ye Wang, Yan-Bin Cheng, Shui-wen Zhang, Shuang Tian, R. Chian
{"title":"Effect of pre-IVF incubation in maturation medium on oocyte maturity, fertilization, embryonic development, and clinical outcomes following embryo transfer","authors":"Jian-Hua Li, Jian-Ye Wang, Tingting Jiao, Min Li, Yanjiao Wei, Ye Wang, Yan-Bin Cheng, Shui-wen Zhang, Shuang Tian, R. Chian","doi":"10.1097/RD9.0000000000000029","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000029","url":null,"abstract":"Objective: Collected human cumulus-oocyte complexes (COCs) are usually inseminated after 4 to 6 hours in in vitro fertilization (IVF) laboratories. The purpose of this study was to determine the effect of short-term pre-IVF incubation in culture medium on subsequent oocyte maturation, fertilization, and embryonic development, as well as clinical outcomes. Methods: Sixty patients were divided randomly into 2 groups, pre-IVF incubation for 5 hours: 1) with (+) the designed oocyte maturation medium; 2) without (−) the designed oocyte maturation medium (transferred directly to fertilization medium for 5 hours before insemination). Oocyte maturation and fertilization were assessed, and the rate of cleavage and good quality embryos were evaluated between the 2 groups on days 2 and 3, respectively. Blastocyst development was based on the remaining number of embryos on day 3, continuously cultured to day 5 after embryo transfer or frozen on day 3, and was compared between the 2 groups. Clinical pregnancy, implantation, and miscarriage rates were also compared. Results: Oocyte maturation rates did not differ between groups (85.8 ± 14.1% vs. 90.7 ± 9.1%). However, the range of oocyte maturation rates (58.3%–100.0%) for each patient was significantly higher in the (−) group than in the (+) pre-incubation group (71.4%–100.0%). There were no differences in fertilization rates (89.9 ± 10.0% vs. 86.5 ± 12.2%) and good quality embryos (70.8 ± 19.1% vs. 62.1 ± 23.7%) between groups; however, the blastocyst development rates were significantly different between groups (73.1 ± 20.1% vs. 58.8 ± 18.2%, P <0.05). Nevertheless, clinical pregnancy (62.5% vs. 61.1%) and implantation (46.9% vs. 47.2%) rates did not differ between groups. Conclusions: These results indicate that a short pre-IVF incubation time in the designed culture medium promotes oocyte maturation and embryonic development, suggesting that short pre-IVF incubation of COCs in the designed culture medium may be important for subsequent final oocyte maturation and early embryonic development.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"6 1","pages":"162 - 168"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45362054","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}
引用次数: 1
Drug discovery and potential gene and pathway associated with polycystic ovary syndrome through text mining and biomedical databases 基于文本挖掘和生物医学数据库的多囊卵巢综合征药物发现和潜在基因通路研究
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-07-12 DOI: 10.1097/RD9.0000000000000035
Y. Wang, Bin Zhao, Xiaoyin Yuan
{"title":"Drug discovery and potential gene and pathway associated with polycystic ovary syndrome through text mining and biomedical databases","authors":"Y. Wang, Bin Zhao, Xiaoyin Yuan","doi":"10.1097/RD9.0000000000000035","DOIUrl":"https://doi.org/10.1097/RD9.0000000000000035","url":null,"abstract":"Objectives: Polycystic ovary syndrome (PCOS) is a common endocrine disease in women of childbearing age. Although it is a leading cause of menstrual disorders, infertility, obesity, and other diseases, its molecular mechanism remains unclear. This study aimed to analyze the target genes, pathways, and potential drugs for PCOS through text mining. Methods: First, three different keywords (“polycystic ovary syndrome”, “obesity/adiposis”, and “anovulation”) were uploaded to GenCLiP3 to obtain three different gene sets. We then chose the common genes among these gene sets. Second, we performed gene ontology and signal pathway enrichment analyses of these common genes, followed by protein–protein interaction (PPI) network analysis. Third, the most significant gene module clustered in the protein–protein network was selected to identify potential drugs for PCOS via gene–drug analysis. Results: A total of 4291 genes related to three different keywords were obtained through text mining, 72 common genes were filtered among the three gene sets, and 69 genes participated in PPI network construction, of which 23 genes were clustered in the gene modules. Finally, six of the 23 genes were targeted by 30 existing drugs. Conclusions: The discovery of the six genes (CYP19A1, ESR1, IGF1R, PGR, PTGS2, and VEGFA) and 30 targeted drugs, which are associated with ovarian steroidogenesis (P <0.001), may be used in potential therapeutic strategies for PCOS.","PeriodicalId":20959,"journal":{"name":"Reproductive and Developmental Medicine","volume":"7 1","pages":"44 - 49"},"PeriodicalIF":0.8,"publicationDate":"2022-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42029513","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}
引用次数: 0
Evidence in Reproductive Medicine 生殖医学中的证据
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-07-12 DOI: 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}
引用次数: 0
A review of guidelines, recommendations, and framework of men’s preconception care 男性先入为主护理的指导方针、建议和框架综述
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-07-12 DOI: 10.1097/RD9.0000000000000030
Z. Rabiei, M. Shariati, Naser Mogharabian, R. Tahmasebi, Ashraf Ghiasi, Z. Motaghi
{"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}
引用次数: 1
Polymorphism of mitochondrial DNA genes involved in asthenozoospermia in infertile patients of Côte d’Ivoire Côte科特迪瓦不孕症患者弱精子症的线粒体DNA基因多态性
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-07-12 DOI: 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
{"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}
引用次数: 0
Liquiritin ameliorates metabolic and endocrine alterations in a mouse model of polycystic ovary syndrome 利尿素改善多囊卵巢综合征小鼠模型的代谢和内分泌改变
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-06-01 DOI: 10.1097/RD9.0000000000000025
Zhi Li, Yang Liu, Haixia Liu, Zhihua Wu, Cong-jian Xu, Feifei Zhang
{"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}
引用次数: 1
Gastroschisis at the León University Hospital, Nicaragua 尼加拉瓜León大学医院的胃裂
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-06-01 DOI: 10.1097/RD9.0000000000000019
Dania María Pastora Bucardo, Paula Andrea Pimienta Ramírez
{"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}
引用次数: 0
Cilia and their role in neural tube development and defects 纤毛及其在神经管发育和缺陷中的作用
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-06-01 DOI: 10.1097/RD9.0000000000000014
Lu Yan, Yu-Fang Zheng
{"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}
引用次数: 2
Transcription factors dysregulated in three complex birth defects datasets 三个复杂出生缺陷数据集中转录因子失调
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-06-01 DOI: 10.1097/RD9.0000000000000018
Zhong Chen, Yunqian Gao, Hua Xie, Yi-Chen Huang, Fang Chen, Y. Lei
{"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}
引用次数: 3
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 中链酰基辅酶a脱氢酶缺乏:巴西南里奥格兰德州健康人群中ACADM致病性变体c.985A>G和c.199T>c的患病率
IF 0.8 4区 医学
Reproductive and Developmental Medicine Pub Date : 2022-06-01 DOI: 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
{"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}
引用次数: 0
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