Congenital Anomalies in Neonates - Clinical Perspectives [Working Title]最新文献

Genetics of Sirenomelia, the Mermaid Syndrome 美人鱼症候群的基因分析

Congenital Anomalies in Neonates - Clinical Perspectives [Working Title] Pub Date : 2021-04-30 DOI: 10.5772/INTECHOPEN.97555

Ritam Verma

{"title":"Genetics of Sirenomelia, the Mermaid Syndrome","authors":"Ritam Verma","doi":"10.5772/INTECHOPEN.97555","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.97555","url":null,"abstract":"Sirenomelia (SML) is a rare, almost universally fatal congenital malformation presenting pathognomically with fused lower extremities and absent or malformed perineum. The classic Sirenomelia sequence includes a uniform spectrum of caudal malformations, spinal defects, and a single umbilical artery. SML is postulated to be due to a genetic predisposition, unmasked by biochemical or environmental triggers. Primary developmental defects in the formation of caudal mesoderm or embryonic caudal vessels with resultant local tissue hypoperfusion are proposed hypotheses for its pathogenesis. SML occurs sporadically in humans, presumably due to a spontaneous mutation, and is speculated to have an autosomal dominant inheritance pattern. In mutant mice, specific defects in Cyp26a1 and Bmp 7 genes are demonstrated to produce offsprings with SML. Bmp 7 is a signaling protein, which belongs to the transforming growth factor-β (TGF β) superfamily. Tsg 1, a Bmp and chordin-binding protein, functions as an activator-inhibitor of Bmp signaling in the embryonic caudal region (ECR). Loss of Bmp7 genes combined with a complete loss or half-dose of Tsg 1 is demonstrated to produce an invariable SML phenotype. SML is also demonstrated to occur with increased Retinoic acid (RA) signaling in the ECR. The Cyp26a1 gene is involved in coding for an enzyme, which expresses in ECR and degrades RA. A specific defect in this gene leads to excess local RA concentration and SML generation with a reported 20% penetrance in mutant mice. However, the mutational screening of Cyp26a1 and Bmp 7genes has failed to confirm their involvement in mankind and the molecular defect and genetic inheritability of SML in humans remain undefined.","PeriodicalId":123779,"journal":{"name":"Congenital Anomalies in Neonates - Clinical Perspectives [Working Title]","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114407394","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: 1

Approach to the Newborn with Disorders of Sex Development 新生儿性发育障碍的治疗方法

Congenital Anomalies in Neonates - Clinical Perspectives [Working Title] Pub Date : 2021-01-27 DOI: 10.5772/INTECHOPEN.94570

P. Sinajon, R. Babul‐Hirji, D. Chitayat

{"title":"Approach to the Newborn with Disorders of Sex Development","authors":"P. Sinajon, R. Babul‐Hirji, D. Chitayat","doi":"10.5772/INTECHOPEN.94570","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.94570","url":null,"abstract":"The birth of a baby with atypical external and/or internal genitalia is a family crisis that requires the interaction between multidisciplinary group physicians including pediatric urologists, pediatric endocrinologists, medical geneticists, genetic counsellors, gynecologists, psychologists/psychiatrists and social workers with expertise in this field. Following each of the specialists’ assessment the findings, plan for investigations, the psychosocial situation and gender assignment and treatment should be reviewed among the group members prior to meeting the family. Following the group discussion the information should be presented to the parents using easy to understand language with visual aids and their questions should be answered so that they can make an informed decision regarding gender assignment, surgical options, where medically indicated, and hormone treatment. Potential for sexual relationships and fertility preservation should be discussed. The birth of a baby with abnormalities may be associated with mother/parental guilt feeling and the point that there is nothing that they did or did not do that caused the newborn’s condition. Disorder of sex development (DSD) can be divided into isolated and non-isolated according to the finding on physical examination and should be further classified into abnormalities of chromosomal abnormalities, gonadal defect, internal and external genital abnormalities. Investigations should be directed by the physical examination findings and the results of the radiological, endocrine and genetic investigation including FISH analysis, microarray analysis, DNA analysis using a variety of DSD panels and, when required, whole exome/genome sequencing.","PeriodicalId":123779,"journal":{"name":"Congenital Anomalies in Neonates - Clinical Perspectives [Working Title]","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129125819","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: 0

Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists 先天性膈疝:新生儿学家面临的主要挑战

Congenital Anomalies in Neonates - Clinical Perspectives [Working Title] Pub Date : 2020-12-30 DOI: 10.5772/INTECHOPEN.94839

R. Prasad

{"title":"Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists","authors":"R. Prasad","doi":"10.5772/INTECHOPEN.94839","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.94839","url":null,"abstract":"Congenital diaphragmatic hernia (CDH) is a major congenital anomaly of the neonates, characterized by the herniation of abdominal contents into the thoracic cavity during fetal life. This results in significant pulmonary hypertension and hypoxemia after birth, which responds poorly to therapeutic interventions. CDH is associated with high morbidity and mortality. The exact pathogenesis is not well understood, and genetic factors have been proposed. The management starts in utero, with antenatal diagnosis and identification of prenatal predictors for the outcomes, which help in the selection of cases suitable for fetal therapy. The postnatal management is complicated by the need for variable cardio-respiratory support and even extra corporeal membrane oxygenation (ECMO), before corrective surgery is undertaken. Improvement in the understanding of the pathophysiology of the underdeveloped lungs and pulmonary vessels has contributed to substantial progress in the management of CDH, which has translated into improved outcomes and survival. Still, many questions regarding CDH remain unanswered and the management is largely based on weak evidence.","PeriodicalId":123779,"journal":{"name":"Congenital Anomalies in Neonates - Clinical Perspectives [Working Title]","volume":"150 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116211174","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: 0

Congenital Anomalies of the Gastrointestinal Tract 先天性胃肠道异常

Congenital Anomalies in Neonates - Clinical Perspectives [Working Title] Pub Date : 2020-11-11 DOI: 10.5772/intechopen.92588

R. Verma

引用次数: 0

The Pathogenesis of Congenital Anomalies: Roles of Teratogens and Infections 先天性畸形的发病机制:致畸物和感染的作用

Congenital Anomalies in Neonates - Clinical Perspectives [Working Title] Pub Date : 2020-06-17 DOI: 10.5772/intechopen.92580

M. Demirtaş

{"title":"The Pathogenesis of Congenital Anomalies: Roles of Teratogens and Infections","authors":"M. Demirtaş","doi":"10.5772/intechopen.92580","DOIUrl":"https://doi.org/10.5772/intechopen.92580","url":null,"abstract":"Congenital anomalies present with significant financial, social, and moral issues and questions to the family and society and are difficult to rehabilitate. In utero exposure to teratogenic agents and infection are the two most important causes of nongenetic acquired anomalies presenting at birth. Teratogens such as drugs, adverse maternal conditions, and toxins are environmental factors that cause permanent structural or functional malformations or death of the embryo or fetus. Teratogens may cause significant congenital anomalies if encountered during the organogenesis period of 3–8 weeks of fetal life, which is the stage of tissues and organs formation, whereas minor morphological and functional disorders may occur with exposure during the fetal period of first 2 weeks. TORCH group infections (toxoplasmosis, others, rubella, cytomegalovirus, and herpes) are the most serious infectious diseases during pregnancy due to the severity of possible embryo-fetal lesions. With expanding scientific knowledge and clinical experience about the association of these toxins and infections with significant, at times crippling congenital anomalies, the avoidance of exposure to pregnant mothers has become the most important part of their prevention and management.","PeriodicalId":123779,"journal":{"name":"Congenital Anomalies in Neonates - Clinical Perspectives [Working Title]","volume":"109 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125004111","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: 4