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Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening
Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.
Bronchopulmonary Dysplasia: An Update, An Issue of Clinics in Perinatology
Bronchopulmonary dysplasia (BPD) as a chronic lung disease affecting preterm infants has been recognized for more than 45 years. However, little progress has been made in the prevention and treatment of the disease. BPD continues to be a major morbidity affecting preterm infants. Studies in pre-adolescent children demonstrate that the abnormal lung function from BPD persists well into childhood. Infants with BPD also have an increased risk for adverse neurodevelopmental outcome. Thus BPD imposes a significant burden of adverse health outcomes in preterm infants. The major risk factors for BPD are prematurity, mechanical ventilation, exposure to noxious insults such as oxygen, infections. New...
Neonatal Hematology and Transfusion Medicine, An Issue of Clinics in Perinatology
Recent advances in neonatal hematology, largely made by the authors of these chapters, are likely to generate wide spread and long-term improvements in outcomes, as well as reductions in costs of care. Publication of these advances in a single volume will facilitate dissemination of these techniques and practices. The advances include neuroprotection from erythropoietic stimulators, improved guidelines for platelet transfusions, evidence-based guidelines for FFP administration, improved diagnostic methods for genetic causes of severe neonatal jaundice, more accurate definitions of hematological perturbations in necrotizing enterocolitis and sepsis, and reduction in transfusions and in IVH rates by cord milking/delayed clamping.
Cardiovascular Disease, An Issue of Clinics in Perinatology, E-Book
The impact of cardiovascular disease on an infant extends from the fetal period to well beyond childhood. Perinatalogists and neonatologists can impact maternal and fetal health through wide range of diagnostic modalities and interventional techniques. For our edition focused on cardiovascular health, we sought to encompass the breadth of knowledge that would be the most relevant for the bed side clinician. Our goal was to assemble contents that would allow a clinician to quickly peruse the journal, and then be prepared to make a medical decision. The interaction between cardiology and perinatology/neonatology includes genetics, diagnostics, interventions, counseling, routine stabilization a...
Neonatal-Perinatal Infections: An Update, An Issue of Clinics in Perinatology
In this issue the Guest Editors provide a contemporary look at the epidemiology, clinical manifestations, treatment and outcomes for neonatal-perinatal infections. Contributors include neonatologists, infectious disease, and critical care specialists with a wide variety of research interests in this arena. Readers will be exposed to the latest information on dosing of antibiotics, antivirals, and antifungals. This information is critical in the infant population given the rapid changes in physiology, metabolic pathways and renal elimination that occur over the first months of life. There is an extensive examination of infectious processes that commonly present in infants including meningitis, bloodstream infections, and urinary tract infections. Additional topics include infectious processes affecting the newborn (chorioamnionitis and TORCH infections) and premature infants (necrotizing enterocolitis). Specific pathogens are highlighted in articles on HSV, CMV/VZV, staphylococcal species, and Candida. Finally, the rationale for the most recent changes to guidelines for initiating therapy for early-onset neonatal sepsis are reviewed.
Science
A weekly record of scientific progress.
Emerging Concepts in Bacterial Biofilms
The ability to form biofilms is a universal attribute of bacteria. Bacteria are able to grow on almost every surface, forming these architecturally complex communities. In biofilms, the cells grow in multicellular aggregates, encased in an extracellular matrix produced by the bacteria themselves. They impact humans in many ways, and can form in natural, medical and industrial settings. For example, the formation of biofilms on medical devices such as catheters or implants often results in difficult-to-treat chronic infections. This book focuses on emerging concepts in bacterial biofilm research, such as the different mechanisms of biofilm formation in Gram negative and Gram positive bacteria, and the burden of biofilm associated infections. It also highlights the various anti-biofilm strategies that can be translated to curb biofilm-associated infections and the escalation of antimicrobial resistance determinants.
Management of Genetic Syndromes
The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagn...
Epstein's Inborn Errors of Development
This third edition of Epstein's Inborn Errors of Development provides essays on pathways of development and thoughtful reviews of dysmorphic syndromes for which the causative gene has been identified. The authors of the chapters on each disorder have provided in depth analyses of the role of the gene in the relevant developmental pathway and the mechanism by which mutations in the gene cause the developmental pathology.
