Genetics Diagnosis Inborn Errors Of Metabolism And Newborn Screening An Update An Issue Of Clinics In Perinatology


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


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

Author: Michael J. Gambello

language: en

Publisher: Elsevier Health Sciences

Release Date: 2015-08-12


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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.

Neonatal-Perinatal Infections: An Update, An Issue of Clinics in Perinatology


Neonatal-Perinatal Infections: An Update, An Issue of Clinics in Perinatology

Author: Brian Smith

language: en

Publisher: Elsevier Health Sciences

Release Date: 2015-03-30


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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.

Bronchopulmonary Dysplasia: An Update, An Issue of Clinics in Perinatology


Bronchopulmonary Dysplasia: An Update, An Issue of Clinics in Perinatology

Author: Suhas G. Kallapur

language: en

Publisher: Elsevier Health Sciences

Release Date: 2016-01-07


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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.