Birth Defects Research Part C-Embryo Today-Reviews最新文献_第8页

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-12-10 DOI: 10.1002/bdrc.21083

Mahdi A. Shkoukani, Lauren A. Lawrence, Daniel J. Liebertz, Peter F. Svider

{"title":"Cleft palate: A clinical review","authors":"Mahdi A. Shkoukani, Lauren A. Lawrence, Daniel J. Liebertz, Peter F. Svider","doi":"10.1002/bdrc.21083","DOIUrl":"10.1002/bdrc.21083","url":null,"abstract":"Orofacial clefts, including cleft palates (CP), are one of the most common birth defects. CP have a multiplicity of effects on the individual and society in terms of economic costs, loss of productivity, psychosocial effects, and increased morbidity and mortality at all stages of life. Embryological development of the palate is well delineated, with developments in the last decade regarding the biomolecular processes involved. Etiology is complex, involving a number of genetic and environmental factors. Various techniques can be employed for the repair of CP, depending on whether the cleft is of the primary or secondary palate, the width of the cleft, whether lengthening of the palate is necessary, and with regard to concerns of disruption of midfacial growth. All surgical techniques have the goals of restoring functional speech, swallowing, and aesthetics. A multidisciplinary team is necessary for the long-term pre- and postoperative care of CP patients to handle complications, associated anomalies, and to optimize function and quality of life. Birth Defects Research (Part C) 102:333–342, 2014. © 2014 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"102 4","pages":"333-342"},"PeriodicalIF":0.0,"publicationDate":"2014-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21083","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32905728","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: 41

When hormone defects cannot explain it: Malformative disorders of sex development 当激素缺陷无法解释时:性发育的畸形性障碍

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-12-03 DOI: 10.1002/bdrc.21086

Romina P. Grinspon, Rodolfo A. Rey

{"title":"When hormone defects cannot explain it: Malformative disorders of sex development","authors":"Romina P. Grinspon, Rodolfo A. Rey","doi":"10.1002/bdrc.21086","DOIUrl":"10.1002/bdrc.21086","url":null,"abstract":"The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed. Birth Defects Research (Part C) 102:359–373, 2014. © 2014 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"102 4","pages":"359-373"},"PeriodicalIF":0.0,"publicationDate":"2014-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21086","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32878032","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: 19

Pulmonary vascular development goes awry in congenital lung abnormalities 先天性肺异常导致肺血管发育异常

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-11-26 DOI: 10.1002/bdrc.21085

Heleen Kool, Daphne Mous, Dick Tibboel, Annelies de Klein, Robbert J. Rottier

{"title":"Pulmonary vascular development goes awry in congenital lung abnormalities","authors":"Heleen Kool, Daphne Mous, Dick Tibboel, Annelies de Klein, Robbert J. Rottier","doi":"10.1002/bdrc.21085","DOIUrl":"10.1002/bdrc.21085","url":null,"abstract":"Pulmonary vascular diseases of the newborn comprise a wide range of pathological conditions with developmental abnormalities in the pulmonary vasculature. Clinically, pulmonary arterial hypertension (PH) is characterized by persistent increased resistance of the vasculature and abnormal vascular response. The classification of PH is primarily based on clinical parameters instead of morphology and distinguishes five groups of PH. Congenital lung anomalies, such as alveolar capillary dysplasia (ACD) and PH associated with congenital diaphragmatic hernia (CDH), but also bronchopulmonary dysplasia (BPD), are classified in group three. Clearly, tight and correct regulation of pulmonary vascular development is crucial for normal lung development. Human and animal model systems have increased our knowledge and make it possible to identify and characterize affected pathways and study pivotal genes. Understanding of the normal development of the pulmonary vasculature will give new insights in the origin of the spectrum of rare diseases, such as CDH, ACD, and BPD, which render a significant clinical problem in neonatal intensive care units around the world. In this review, we describe normal pulmonary vascular development, and focus on four diseases of the newborn in which abnormal pulmonary vascular development play a critical role in morbidity and mortality. In the future perspective, we indicate the lines of research that seem to be very promising for elucidating the molecular pathways involved in the origin of congenital pulmonary vascular disease. Birth Defects Research (Part C) 102:343–358, 2014. © 2014 Wiley Periodicals, Inc.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"102 4","pages":"343-358"},"PeriodicalIF":0.0,"publicationDate":"2014-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32837183","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: 50

Congenital anomalies of the kidney and urinary tract: An embryogenetic review 肾脏和泌尿道先天性异常:胚胎发生学综述

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-11-25 DOI: 10.1002/bdrc.21084

Augusto Cesar Soares dos Santos Junior, Debora Marques de Miranda, Ana Cristina Simões e Silva

引用次数: 41

Neural crest cells: From developmental biology to clinical interventions 神经嵴细胞:从发育生物学到临床干预

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21074

Parinya Noisa, Taneli Raivio

引用次数: 27

Cranial neural crest cell contribution to craniofacial formation, pathology, and future directions in tissue engineering 颅神经嵴细胞对颅面形成、病理和组织工程的未来方向的贡献

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21075

Taylor Nicholas Snider, Yuji Mishina

引用次数: 34

The capacity of neural crest-derived stem cells for ocular repair 神经嵴来源的干细胞用于眼部修复的能力

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21077

Bo Liu, Daniel J. Hunter, Andrew A. Smith, Serafine Chen, Jill A. Helms

引用次数: 12

The neural crest: A versatile organ system 神经嵴:一个多功能的器官系统

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21081

Dongcheng Zhang, Samiramis Ighaniyan, Lefteris Stathopoulos, Benjamin Rollo, Kerry Landman, John Hutson, Donald Newgreen

{"title":"The neural crest: A versatile organ system","authors":"Dongcheng Zhang, Samiramis Ighaniyan, Lefteris Stathopoulos, Benjamin Rollo, Kerry Landman, John Hutson, Donald Newgreen","doi":"10.1002/bdrc.21081","DOIUrl":"10.1002/bdrc.21081","url":null,"abstract":"The neural crest is the name given to the strip of cells at the junction between neural and epidermal ectoderm in neurula-stage vertebrate embryos, which is later brought to the dorsal neural tube as the neural folds elevate. The neural crest is a heterogeneous and multipotent progenitor cell population whose cells undergo EMT then extensively and accurately migrate throughout the embryo. Neural crest cells contribute to nearly every organ system in the body, with derivatives of neuronal, glial, neuroendocrine, pigment, and also mesodermal lineages. This breadth of developmental capacity has led to the neural crest being termed the fourth germ layer. The neural crest has occupied a prominent place in developmental biology, due to its exaggerated migratory morphogenesis and its remarkably wide developmental potential. As such, neural crest cells have become an attractive model for developmental biologists for studying these processes. Problems in neural crest development cause a number of human syndromes and birth defects known collectively as neurocristopathies; these include Treacher Collins syndrome, Hirschsprung disease, and 22q11.2 deletion syndromes. Tumors in the neural crest lineage are also of clinical importance, including the aggressive melanoma and neuroblastoma types. These clinical aspects have drawn attention to the selection or creation of neural crest progenitor cells, particularly of human origin, for studying pathologies of the neural crest at the cellular level, and also for possible cell therapeutics. The versatility of the neural crest lends itself to interlinked research, spanning basic developmental biology, birth defect research, oncology, and stem/progenitor cell biology and therapy.","PeriodicalId":55352,"journal":{"name":"Birth Defects Research Part C-Embryo Today-Reviews","volume":"102 3","pages":"275-298"},"PeriodicalIF":0.0,"publicationDate":"2014-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/bdrc.21081","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32673214","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: 59

Human epidermal neural crest stem cells as candidates for cell-based therapies, disease modeling, and drug discovery 人类表皮神经嵴干细胞作为细胞治疗、疾病建模和药物发现的候选细胞

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21073

Maya Sieber-Blum

引用次数: 10

Evolutionary and developmental origins of the cardiac neural crest: Building a divided outflow tract 心脏神经嵴的进化和发育起源:建立一个分离的流出道

Birth Defects Research Part C-Embryo Today-Reviews Pub Date : 2014-09-16 DOI: 10.1002/bdrc.21076

Anna L. Keyte, Martha Alonzo-Johnsen, Mary R. Hutson

引用次数: 39