Birth Defects Research Part C-Embryo Today-Reviews最新文献_第2页

Genetic and epigenetic effects in sex determination. 性别决定中的遗传和表观遗传效应。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-12-01 DOI: 10.1002/bdrc.21146

S. Gunes, Asli Metin Mahmutoglu, A. Agarwal

引用次数: 20

Challenges in the diagnosis and management of disorders of sex development. 在性发育障碍的诊断和管理的挑战。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-12-01 DOI: 10.1002/bdrc.21147

K. Kutney, L. Konczal, B. Kaminski, N. Uli

引用次数: 14

Sociocultural aspects of disorders of sex development. 性发育障碍的社会文化方面。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-12-01 DOI: 10.1002/bdrc.21144

A. Ediati, Nani Maharani, A. Utari

{"title":"Sociocultural aspects of disorders of sex development.","authors":"A. Ediati, Nani Maharani, A. Utari","doi":"10.1002/bdrc.21144","DOIUrl":"https://doi.org/10.1002/bdrc.21144","url":null,"abstract":"Disorders of sex development (DSD) is a congenital condition in which the development of chromosomes, gonads, hormones, and reproductive structures are atypical. DSD brings with it a psychological impact on the affected individual and their families. The consensus statement on management of DSD strongly advised an integrated and multidisciplinary approach in providing care to the affected individuals. Studies have been conducted focusing on medical intervention, and more recently, there is increasing attention paid to psychological aspects of DSD. However, studies reporting cultural aspects of DSD are lacking. This review provides an overview on how culture impacts the affected individuals in coping with DSD and making decisions with regard to gender assignment or reassignment, help-seeking behavior for medical treatments, attitudes toward medical treatment, religious beliefs, and values concerning marriage and fertility. The involvement of social scientists is needed to study sociocultural aspects of DSD from more diverse cultures, to help affected individuals and their families in gaining better social acceptance. Birth Defects Research (Part C) 108:380-383, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"62 1","pages":"380-383"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82340710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Why boys will be boys and girls will be girls: Human sex development and its defects. 为什么男孩就是男孩，女孩就是女孩:人类的性发展及其缺陷。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-12-01 DOI: 10.1002/bdrc.21143

Wassim Eid, A. Biason-Lauber

{"title":"Why boys will be boys and girls will be girls: Human sex development and its defects.","authors":"Wassim Eid, A. Biason-Lauber","doi":"10.1002/bdrc.21143","DOIUrl":"https://doi.org/10.1002/bdrc.21143","url":null,"abstract":"Among the most defining events of an individual's life, is the development of a human embryo into male or a female. The phenotypic sex of an individual depends on the type of gonad that develops in the embryo, a process which itself is determined by the genetic setting of the individual. The development of the gonads is different from any other organ, as they possess the potential to differentiate into two functionally distinct organs, testes, or ovaries. Sex development can be divided into two distinctive processes, \"sex determination,\" which is the commitment of the undifferentiated gonad into either a testis or an ovary, a process that is genetically programmed in a critically timed manner and \"sex differentiation,\" which takes place through hormones produced by the gonads, once the developmental sex determination decision has been made. Disruption of any of the genes involved in either the testicular or ovarian development pathway could lead to disorders of sex development. In this review, we provide an insight into the factors important for sex determination, their antagonistic actions and whenever possible, references on the \"prismatic\" clinical cases are given. Birth Defects Research (Part C) 108:365-379, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"22 1","pages":"365-379"},"PeriodicalIF":0.0,"publicationDate":"2016-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75191748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 27

Fetal programming of neuropsychiatric disorders 神经精神障碍的胎儿编程

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-10-24 DOI: 10.1002/bdrc.21139

Gavino Faa, Mirko Manchia, Roberta Pintus, Clara Gerosa, Maria Antonietta Marcialis, Vassilios Fanos

{"title":"Fetal programming of neuropsychiatric disorders","authors":"Gavino Faa, Mirko Manchia, Roberta Pintus, Clara Gerosa, Maria Antonietta Marcialis, Vassilios Fanos","doi":"10.1002/bdrc.21139","DOIUrl":"https://doi.org/10.1002/bdrc.21139","url":null,"abstract":"Starting from the Developmental Origins of Health and Disease (DOHaD) hypotheses proposed by David Barker, namely fetal programming, in the past years, there is a growing evidence of the major role played by epigenetic factors during the intrauterine life and the perinatal period. Furthermore, it has been assessed that these factors can affect the health status in infancy and even in adulthood. In this review, we focus our attention on the fetal programming of the brain, analyzing the most recent literature concerning the epigenetic factors that can influence the development of neuropsychiatric disorders such as bipolar disorders, major depressive disorders, and schizophrenia. The perinatal epigenetic factors have been divided in two main groups: maternal factors and fetal factors. The maternal factors include diet, smoking, alcoholism, hypertension, malnutrition, trace elements, stress, diabetes, substance abuse, and exposure to environmental toxicants, while the fetal factors include hypoxia/asphyxia, placental insufficiency, prematurity, low birth weight, drugs administered to the mother or to the baby, and all factors causing intrauterine growth restriction. A better comprehension of the possible mechanisms underlying the pathogenesis of these diseases may help researchers and clinicians develop new diagnostic tools and treatments to offer these patients a tailored medical treatment strategy to improve their quality of life. Birth Defects Research (Part C) 108:207–223, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"108 3","pages":"207-223"},"PeriodicalIF":0.0,"publicationDate":"2016-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91566979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 112

Prenatal exposure to environmental factors and congenital limb defects 产前环境因素暴露与先天性肢体缺陷

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-10-21 DOI: 10.1002/bdrc.21140

Peter G. Alexander, Karen L. Clark, Rocky S. Tuan

{"title":"Prenatal exposure to environmental factors and congenital limb defects","authors":"Peter G. Alexander, Karen L. Clark, Rocky S. Tuan","doi":"10.1002/bdrc.21140","DOIUrl":"https://doi.org/10.1002/bdrc.21140","url":null,"abstract":"Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact. This is limited by the insufficiencies of currently available models. Specifically, in vivo approaches using guideline animal models have inherently deficient predictive power due to genomic and anatomic differences that complicate mechanistic comparisons. On the other hand, in vitro two-dimensional (2D) cell cultures, while accessible for cellular and molecular experimentation, do not reflect the three-dimensional (3D) morphogenetic events in vivo nor systemic influences. More robust and accessible models based on human cells that accurately replicate specific processes of embryonic limb development are needed to enhance limb teratogenesis prediction and to permit mechanistic analysis of the adverse outcome pathways. Recent advances in elucidating mechanisms of normal development will aid in the development of process-specific 3D cell cultures within specialized bioreactors to support multicellular microtissues or organoid constructs that will lead to increased understanding of cell functions, cell-to-cell signaling, pathway networks, and mechanisms of toxicity. The promise is prompting researchers to look to such 3D microphysiological systems to help sort out complex and often subtle interactions relevant to developmental malformations that would not be evident by standard 2D cell culture testing. Birth Defects Research (Part C) 108:243–273, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"108 3","pages":"243-273"},"PeriodicalIF":0.0,"publicationDate":"2016-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21140","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91859881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 24

Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins 常见先天性异常:环境原因及含多种维生素的叶酸预防

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-10-07 DOI: 10.1002/bdrc.21138

Swapnalee Sarmah, Pooja Muralidharan, James A. Marrs

{"title":"Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins","authors":"Swapnalee Sarmah, Pooja Muralidharan, James A. Marrs","doi":"10.1002/bdrc.21138","DOIUrl":"https://doi.org/10.1002/bdrc.21138","url":null,"abstract":"Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially. Also, society is impacted on many levels. Congenital anomalies may be reduced by dietary supplements of folic acid and other vitamins. Here, we review the evidence for specific roles of toxins (alcohol, cigarette smoke) in causing common severe congenital anomalies like CHDs, NTDs, and ocular defects. We also review the evidence for beneficial effects for dietary supplementation, and highlight gaps in our knowledge, where research may contribute to additional benefits of intervention that can reduce birth defects. Extensive discussion of common severe congenital anomalies (CHDs, NTDs, and ocular defects) illustrates the effects of diet on the frequency and severity of these defects. Birth Defects Research (Part C) 108:274–286, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"108 3","pages":"274-286"},"PeriodicalIF":0.0,"publicationDate":"2016-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21138","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91839566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 29

The effect of maternal exposure to endocrine disrupting chemicals on fetal and neonatal development: A review on the major concerns 母体接触内分泌干扰物对胎儿和新生儿发育的影响:主要关注的综述

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-09-22 DOI: 10.1002/bdrc.21137

Maddalena Mallozzi, Giulia Bordi, Chiara Garo, Donatella Caserta

{"title":"The effect of maternal exposure to endocrine disrupting chemicals on fetal and neonatal development: A review on the major concerns","authors":"Maddalena Mallozzi, Giulia Bordi, Chiara Garo, Donatella Caserta","doi":"10.1002/bdrc.21137","DOIUrl":"https://doi.org/10.1002/bdrc.21137","url":null,"abstract":"There is a widespread exposure of general population, including pregnant women and developing fetuses, to the endocrine disrupting chemicals (EDCs). These chemicals have been reported to be present in urine, blood serum, breast milk, and amniotic fluid. Endocrine disruptions induced by environmental toxicants have placed a heavy burden on society, since environmental exposures during critical periods of development can permanently reprogram normal physiological responses, thereby increasing susceptibility to disease later in life—a process known as developmental reprogramming. During development, organogenesis and tissue differentiation occur through a continuous series of tightly-regulated and precisely-timed molecular, biochemical, and cellular events. Humans may encounter EDCs daily and during all stages of life, from conception and fetal development through adulthood and senescence. Nevertheless, prenatal and early postnatal windows are the most critical for proper development, due to rapid changes in system growth. Although there are still gaps in our knowledge, currently available data support the urgent need for health and environmental policies aimed at protecting the public and, in particular, the developing fetus and women of reproductive age. Birth Defects Research (Part C) 108:224–242, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"108 3","pages":"224-242"},"PeriodicalIF":0.0,"publicationDate":"2016-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21137","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91863444","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 75

Prenatal exposure to environmental factors and congenital limb defects. 产前环境因素暴露与先天性肢体缺陷。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-09-01 DOI: 10.1002/bdrc.21140

P. Alexander, K. L. Clark, R. Tuan

{"title":"Prenatal exposure to environmental factors and congenital limb defects.","authors":"P. Alexander, K. L. Clark, R. Tuan","doi":"10.1002/bdrc.21140","DOIUrl":"https://doi.org/10.1002/bdrc.21140","url":null,"abstract":"Limb congenital defects afflict approximately 0.6:1000 live births. In addition to genetic factors, prenatal exposure to drugs and environmental toxicants, represents a major contributing factor to limb defects. Examples of well-recognized limb teratogenic agents include thalidomide, warfarin, valproic acid, misoprostol, and phenytoin. While the mechanism by which these agents cause dymorphogenesis is increasingly clear, prediction of the limb teratogenicity of many thousands of as yet uncharacterized environmental factors (pollutants) remains inexact. This is limited by the insufficiencies of currently available models. Specifically, in vivo approaches using guideline animal models have inherently deficient predictive power due to genomic and anatomic differences that complicate mechanistic comparisons. On the other hand, in vitro two-dimensional (2D) cell cultures, while accessible for cellular and molecular experimentation, do not reflect the three-dimensional (3D) morphogenetic events in vivo nor systemic influences. More robust and accessible models based on human cells that accurately replicate specific processes of embryonic limb development are needed to enhance limb teratogenesis prediction and to permit mechanistic analysis of the adverse outcome pathways. Recent advances in elucidating mechanisms of normal development will aid in the development of process-specific 3D cell cultures within specialized bioreactors to support multicellular microtissues or organoid constructs that will lead to increased understanding of cell functions, cell-to-cell signaling, pathway networks, and mechanisms of toxicity. The promise is prompting researchers to look to such 3D microphysiological systems to help sort out complex and often subtle interactions relevant to developmental malformations that would not be evident by standard 2D cell culture testing. Birth Defects Research (Part C) 108:243-273, 2016. © 2016 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"5 1","pages":"243-273"},"PeriodicalIF":0.0,"publicationDate":"2016-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81873826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 25

Common congenital anomalies: Environmental causes and prevention with folic acid containing multivitamins. 常见先天性异常:环境原因及含多种维生素的叶酸预防。

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2016-09-01 DOI: 10.1002/bdrc.21138

S. Sarmah, P. Muralidharan, J. Marrs

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引用次数: 29