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.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Contributors - p. iii 6. CME Accreditation Page - p. xi 7. Forthcoming Issues - p. xiii 8. Erratum - p. xv 9. Foreword - p. xvii 10. Preface - p. xxi 11. Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error - p. 1 12. Dysmorphology in a Genomic Era - p. 15 13. Neonatal Acute Liver Failure - p. 25 14. Autoinflammatory Disorders with Perinatal Onset - p. 41 15. Rare Vesiculopustular Eruptions of the Neonatal Period - p. 53 16. Omenn Syndrome Identified by Newborn Screening - p. 77 17. Congenital Diarrheal Syndromes - p. 87 18. Nonimmune Hydrops Fetalis - p. 105 19. Mitochondrial DNA Depletion Syndromes - p. 123 20. Nonimmune Anemias - p. 143 21. Neonatal Metabolic Crises: A Practical Approach - p. 155 22. Neonatal Assessment of Infants with Heterotaxy - p. 171 23. Neonatal and Infant Appendicitis - p. 183 24. Differentiating Congenital Myopathy from Congenital Muscular Dystrophy - p. 197
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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.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Contributors - p. iii 6. CME Accreditation Page - p. xi 7. Forthcoming Issues - p. xiii 8. Erratum - p. xv 9. Foreword - p. xvii 10. Preface - p. xxi 11. Undiagnosed and Rare Diseases in Perinatal Medicine: Lessons in Context and Cognitive Diagnostic Error - p. 1 12. Dysmorphology in a Genomic Era - p. 15 13. Neonatal Acute Liver Failure - p. 25 14. Autoinflammatory Disorders with Perinatal Onset - p. 41 15. Rare Vesiculopustular Eruptions of the Neonatal Period - p. 53 16. Omenn Syndrome Identified by Newborn Screening - p. 77 17. Congenital Diarrheal Syndromes - p. 87 18. Nonimmune Hydrops Fetalis - p. 105 19. Mitochondrial DNA Depletion Syndromes - p. 123 20. Nonimmune Anemias - p. 143 21. Neonatal Metabolic Crises: A Practical Approach - p. 155 22. Neonatal Assessment of Infants with Heterotaxy - p. 171 23. Neonatal and Infant Appendicitis - p. 183 24. Differentiating Congenital Myopathy from Congenital Muscular Dystrophy - p. 197
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