Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology, PDF Download

Author: Michael J. Gambello
Publisher: Elsevier Health Sciences
ISBN: 0323356850
Category : Medical
Languages : en
Pages : 281

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Book Description
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.

Author: Michael J. Gambello
Publisher:
ISBN: 9780323356626
Category : Genetic disorders
Languages : en
Pages : 0

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Book Description
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.

Author: Brian Smith
Publisher: Elsevier Health Sciences
ISBN: 0323376363
Category : Medical
Languages : en
Pages : 241

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Book Description
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.

Author: Suhas G. Kallapur
Publisher: Elsevier Health Sciences
ISBN: 0323395783
Category : Medical
Languages : en
Pages : 20

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Book Description
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 research data both in basic science and clinical studies have shed light on the pathogenesis, and possible new treatment or management strategies for the future. In the proposed issue of the Clinics in Perinatology, we would like to comprehensively cover BPD both from a basic science and clinical perspective. Our attempt is to balance new information along with classic topics. The proposed authors for the issue are recognized experts in the topic area/s. We hope that the issue will be of interest to a broad array of readership.

Author: Nikhil K. Chanani
Publisher: Elsevier Health Sciences
ISBN: 0323416578
Category : Medical
Languages : en
Pages : 241

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Book Description
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 and day to day care. Ultimately, the goal is to establish the foundation for a healthy adult. For this reason, we have even included chapters on topics that are significant on a day to day basis (such as the proper environment for a newborn) and a long term basis (like the overall neurodevelopmental impact of our interventions). Hopefully, whether in the middle of the night as an emergency reference or during the day as a reliable guide, this edition of Clinics in perinatology will be an important bedside tool for anyone that participates in the care of a patient with perinatal heart disease.

Author: Brenda Poindexter
Publisher: Elsevier Health Sciences
ISBN: 0323299474
Category : Medical
Languages : en
Pages : 217

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Book Description
Over the past several decades, advances in neonatal nutrition have focused on the provision of early parenteral nutrition and the development of formulas and supplements that most closely approximate maternal breast milk. The overall outcomes for infants, including premature infants, have greatly benefited from these advances, but there are still many nutritional unknowns that impact the lives of neonates. This is an exciting time in neonatal nutrition as the focus has shifted from survival and growth, which are still important goals, to effects of each micro/macronutrient on development, prevention of disease states such as ROP, the effects of neonatal nutrition on future health as an adult, and opportunities to improve long-term neurodevelopmental outcomes by optimal early nutrition. This issue focuses on aspects of enteral and parenteral nutrition that are at the forefront of neonatal care: assessing growth, parenteral nutrition components (including alternate lipid formulations), optimal storage and use of human milk (including donor milk), post-discharge nutrition, and the effects of various micro/macronutrients on long-term developmental outcomes. It is anticipated that the study and implementation of many of these novel concepts into the care of neonates, many of whom are severely premature, will be of value to practitioners, researchers, and, most of all, patients.

Author: Robert D. Christensen
Publisher: Elsevier Health Sciences
ISBN: 0323402658
Category : Medical
Languages : en
Pages : 241

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Book Description
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.

Author: Robert H. Lane
Publisher: Elsevier Health Sciences
ISBN: 0323326730
Category : Medical
Languages : en
Pages : 321

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Book Description
Neonatal-perinatal medicine has a strong history of evidence based practice but unfortunately there remain many areas of uncertainty and unproven hypotheses and treatments that may harm our highly vulnerable patients. When new ideas are introduced into the labor and delivery room or the NICU we have to evaluate these procedures and therapies before they become accepted as standards of care. We need to learn from the past lessons of grey baby syndrome and chloramphenicol and of kernicterus and sulfonamide antibiotics where therapeutic good intentions actually did more harm than good and increased the mortality rate of premature babies in the NICU.This proposed edition addresses a broad range of current topics in perinatal neonatal practice. The AAP has just issued new guidelines for the approach to a neonate exposed to maternal genital herpes virus infection. The recommendations were not evidence based and are highly controversial as well as confusing. These topics are addressed in a scholarly and objective manner to both address the controversy and help the practitioner make informed decisions.

Author: Michelle Rheault
Publisher: Elsevier Health Sciences
ISBN: 0323323383
Category : Medical
Languages : en
Pages : 715

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Book Description
Kidney anomalies are the most frequent abnormality detected on prenatal ultrasound. Some are inconsequential and others are life-threatening. All must be addressed by neonatologists. This edition of Pediatric Clinics of Perinatology covers these anomalies. In addition, it addresses a variety of other nephrology and urology issues that neonatologists confront. Some are rare and the chapter may then serve as an important resource. Others are common, and thus will provide updated information on diagnosis and management.

Author: Robert M. Kliegman
Publisher: Elsevier Health Sciences
ISBN: 0323711448
Category : Medical
Languages : en
Pages : 233

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Book Description
In collaboration with Consulting Editor, Dr. Lucky Jain, Drs. Robert Kliegman and Bret Bordini have put together topics that provide a current clinical update on the treatment and management of undiagnosed and rare diseases in the neonate. Expert authors have contributed clinical review articles on the following topics: Neonatal Liver Failure; Neonatal Autoinflammatory Disorders; Rare or Unusual Dermatologic Disorders In Neonates; Neonatal Immune Deficiency; Congenital Diarrhea Syndromes; Nonimmune Hydrops; DNA Depletion Syndromes; Genomic Approach to Dysmorphology Syndromes; Nonimmune Anemias; Severe Metabolic Crisis (Metabolic Acidosis, Unresponsive Hypoglycemia, Hyperammonemia); Heterotaxia Syndromes; Neonatal Appendicitis; Avoiding Diagnostic Errors in Neonatology; and Differentiating Congenital Myopathy from Congenital Muscular Dystrophy. Readers will come away with the information they need to improve outcomes in the neonate.