Christopher M Stark, Brian N Hughes, John Paul Schacht, Theresa M Urbina
Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies of variable embryologic and molecular origins. A basic understanding of the genetics implicated in nonsyndromic (isolated) and syndromic structural CHD can better inform management decisions and family counseling. When a fetus or neonate develops CHD as a result of a genetic cause, it can be due to a mutation or a monogenic, oligogenic, or polygenic pathogenic variant. In this review, we summarize basic cardiac embryology in the context of genetic signaling pathways and proteins that are commonly implicated in syndromic and nonsyndromic structural CHD. We also provide an overview of the basic genetic evaluation in infants with common syndromic structural CHD.
{"title":"Decoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease.","authors":"Christopher M Stark, Brian N Hughes, John Paul Schacht, Theresa M Urbina","doi":"10.1542/neo.26-2-010","DOIUrl":"10.1542/neo.26-2-010","url":null,"abstract":"<p><p>Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies of variable embryologic and molecular origins. A basic understanding of the genetics implicated in nonsyndromic (isolated) and syndromic structural CHD can better inform management decisions and family counseling. When a fetus or neonate develops CHD as a result of a genetic cause, it can be due to a mutation or a monogenic, oligogenic, or polygenic pathogenic variant. In this review, we summarize basic cardiac embryology in the context of genetic signaling pathways and proteins that are commonly implicated in syndromic and nonsyndromic structural CHD. We also provide an overview of the basic genetic evaluation in infants with common syndromic structural CHD.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e73-e88"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075142","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}
{"title":"Managing Fetal Anemia: A Case of Parvovirus Infection in Pregnancy.","authors":"Rodolfo Fernandez Criado, Stephanie Ros Saposnik","doi":"10.1542/neo.26-2-016","DOIUrl":"https://doi.org/10.1542/neo.26-2-016","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e123-e126"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075146","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}
Ina A Lee, Erin Von Klein, Laura Petrauskas, Gabriella L Crane, Kevin Louie, Lyndy Wilcox
{"title":"Term Infant With Apnea and Seizure-Like Activity.","authors":"Ina A Lee, Erin Von Klein, Laura Petrauskas, Gabriella L Crane, Kevin Louie, Lyndy Wilcox","doi":"10.1542/neo.26-2-013","DOIUrl":"https://doi.org/10.1542/neo.26-2-013","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e119-e122"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075155","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}
Jonathan D Reiss, Samson J Mataraso, Lindsay F Holzapfel, Ivana Marić, Maya M Kasowski, Camilia R Martin, Jonathan Z Long, David K Stevenson, Gary M Shaw
The metabolome and lipidome comprise the thousands of molecular compounds in an organism. Molecular compounds consist of the upstream metabolic components of intracellular reactions or the byproducts of cellular pathways. Molecular and biochemical perturbations are associated with disorders in newborns and infants. The diagnosis of inborn errors of metabolism has relied on targeted metabolomics for several decades. Newer approaches offer the potential to identify novel biomarkers for common diseases of the newborn and infant. They may also elucidate novel predictive or diagnostic measures for a variety of health trajectories. Here, we review the relevance of the metabolome and lipidome for common disorders and highlight challenges and opportunities for future investigations.
{"title":"Applications of Metabolomics and Lipidomics in the Neonatal Intensive Care Unit.","authors":"Jonathan D Reiss, Samson J Mataraso, Lindsay F Holzapfel, Ivana Marić, Maya M Kasowski, Camilia R Martin, Jonathan Z Long, David K Stevenson, Gary M Shaw","doi":"10.1542/neo.26-2-011","DOIUrl":"https://doi.org/10.1542/neo.26-2-011","url":null,"abstract":"<p><p>The metabolome and lipidome comprise the thousands of molecular compounds in an organism. Molecular compounds consist of the upstream metabolic components of intracellular reactions or the byproducts of cellular pathways. Molecular and biochemical perturbations are associated with disorders in newborns and infants. The diagnosis of inborn errors of metabolism has relied on targeted metabolomics for several decades. Newer approaches offer the potential to identify novel biomarkers for common diseases of the newborn and infant. They may also elucidate novel predictive or diagnostic measures for a variety of health trajectories. Here, we review the relevance of the metabolome and lipidome for common disorders and highlight challenges and opportunities for future investigations.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e100-e114"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075140","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}
{"title":"Preterm Infants With Bronchopulmonary Dysplasia and Pulmonary Hypertension.","authors":"Kathryn Hasselfeld, Erik Hysinger, Melissa House","doi":"10.1542/neo.26-2-015","DOIUrl":"https://doi.org/10.1542/neo.26-2-015","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e132-e140"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075153","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}
{"title":"A Late Preterm Neonate With a Small Chest.","authors":"Abhilasha Gupta, Prashanth Ranya Raghavendra, Sruthi Nair, Anitha Haribalakrishna","doi":"10.1542/neo.26-2-014","DOIUrl":"https://doi.org/10.1542/neo.26-2-014","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 2","pages":"e127-e131"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143075069","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}
Samantha L Simpson, Patrick D Smith, William Adams, Thomas Nienaber
{"title":"Hypoxia, Poor Lower Extremity Perfusion, and Metabolic Acidosis in the First Day of Life.","authors":"Samantha L Simpson, Patrick D Smith, William Adams, Thomas Nienaber","doi":"10.1542/neo.26-1-005","DOIUrl":"https://doi.org/10.1542/neo.26-1-005","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 1","pages":"e50-e52"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909994","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}
{"title":"A Rare Case of an Oropharyngeal Mass Causing Respiratory Distress.","authors":"Puja Harpale, Megha Consul, Arun Kumar, Anand Sinha","doi":"10.1542/neo.26-1-009","DOIUrl":"https://doi.org/10.1542/neo.26-1-009","url":null,"abstract":"","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"26 1","pages":"e53-e56"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909933","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}
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