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Book Details
Abstract
Dr. Richard Polin’s Neonatology Questions and Controversies series highlights the most challenging aspects of neonatal care, offering trustworthy guidance on up-to-date diagnostic and treatment options in the field. In each volume, renowned experts address the clinical problems of greatest concern to today’s practitioners, helping you handle difficult practice issues and provide optimal, evidence-based care to every patient.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| IFC | ES1 | ||
| Neonatology Questions and Controversies | i | ||
| Neonatology Questions and Controversies | ii | ||
| Neonatology Questions and Controversies | iii | ||
| Copyright | iv | ||
| Contributors | v | ||
| Series Foreword | vii | ||
| Preface | ix | ||
| Contents | xi | ||
| 1 - Stem Cell Therapy in Neonates—the Time Has (Almost) Come | 1 | ||
| Stem cells: important in development and disease | 2 | ||
| Mesenchymal stromal cells: orchestrator of immune response and healing processes | 2 | ||
| Endothelial colony-forming cells: when angiogenesis counts | 2 | ||
| Amnion epithelial cells—don’t discount the placenta | 4 | ||
| Bronchopulmonary dysplasia and stem cell therapy | 4 | ||
| Prophylactic mesenchymal stromal cell therapy | 4 | ||
| Rescue mesenchymal stromal cell therapy | 6 | ||
| It’s in the juice—MSCs act via a paracrine effect | 6 | ||
| Other stem cells for bronchopulmonary dysplasia | 6 | ||
| Endothelial progenitor cells and endothelial colony-forming cells | 6 | ||
| Human amnion epithelial cells | 7 | ||
| Summary | 7 | ||
| Mesenchymal stromal cell therapy for neurologic diseases of newborn | 7 | ||
| Intraventricular hemorrhage | 7 | ||
| Hypoxic-ischemic encephalopathy | 7 | ||
| Neonatal stroke | 8 | ||
| Mesenchymal stromal cells for congenital heart disease | 8 | ||
| Mechanisms of action of stem cells in neonatal diseases | 8 | ||
| Stem cells targeting the immune response | 9 | ||
| Stem cells and growth factors | 9 | ||
| Extracellular vesicles: exosomes and microvesicles | 11 | ||
| Summary | 11 | ||
| Clinical stem cell trials | 11 | ||
| Completed stem cell trials for neonatal diseases | 11 | ||
| Lessons from nonneonatal stem cell trials | 12 | ||
| Going forward—has the time come? | 12 | ||
| Conclusion | 13 | ||
| REFERENCES | 13 | ||
| 2 - Genome and Exome Sequencing: Can It Impact Clinical Care in the Neonatal Intensive Care Unit? | 19 | ||
| Next-generation sequencing | 20 | ||
| Genome vs. exome vs. targeted-panel sequencing | 22 | ||
| Clinical utility of next-generation sequencing in neonatal intensive care unit | 25 | ||
| Newborn screening | 27 | ||
| Future perspectives | 28 | ||
| REFERENCES | 28 | ||
| 3 - Transfusion Thresholds in the Neonatal Intensive Care Unit: What Have Recent Randomized Controlled Trials Taught Us? | 31 | ||
| Transfusion risks | 32 | ||
| When to transfuse | 32 | ||
| Acute anemia | 32 | ||
| Chronic anemia | 33 | ||
| Preoperative target for infants undergoing surgery | 33 | ||
| Studies evaluating target hemoglobin or hematocrit | 33 | ||
| Erythropoiesis-stimulating agents and transfusions | 35 | ||
| Search for other transfusion markers | 36 | ||
| Selection of red cell products | 36 | ||
| Red cell transfusion volumes | 37 | ||
| When families oppose transfusions | 38 | ||
| Summary and recommendations | 39 | ||
| REFERENCES | 40 | ||
| 4 - Donor Milk Compared with Mother’s Own Milk | 43 | ||
| Secretory immunoglobulin A | 46 | ||
| Lactoferrin | 46 | ||
| Lysozyme | 46 | ||
| Epidermal growth factor | 47 | ||
| Lipase | 47 | ||
| Oligosaccharides | 47 | ||
| Transforming growth factor | 48 | ||
| Cytokines and chemokines | 48 | ||
| Cells | 48 | ||
| Erythropoietin | 49 | ||
| Summary | 49 | ||
| REFERENCES | 49 | ||
| 5 - Will Standardized Approaches to Nutrition Decrease Necrotizing Enterocolitis? | 53 | ||
| General approach to enteral feeding to prevent necrotizing enterocolitis in preterm infants | 53 | ||
| Enteral feeding during treatment for patent ductus arteriosus | 56 | ||
| Enteral feedings and red blood cell transfusions | 58 | ||
| Quality improvement framework | 61 | ||
| Conclusion | 61 | ||
| REFERENCES | 62 | ||
| 6 - Nonimmune Neonatal Hemolytic Anemia: Recent Advances in Diagnosis and Treatment | 65 | ||
| Initial testing of anemic neonate to assess for hemolysis | 65 | ||
| Additional laboratory testing | 67 | ||
| Neonatal hemolytic anemia from genetic red blood cell membrane defects | 69 | ||
| Hereditary spherocytosis | 69 | ||
| Hereditary elliptocytosis | 69 | ||
| Heterozygous hereditary elliptocytosis | 69 | ||
| Hereditary elliptocytosis with hemolysis | 70 | ||
| Southeast Asian ovalocytosis | 70 | ||
| Hereditary stomatocytosis | 70 | ||
| Neonatal hemolytic anemia from red blood cell enzyme defects | 70 | ||
| Glucose-6-phosphate dehydrogenase deficiency | 70 | ||
| Pyruvate kinase deficiency | 71 | ||
| Hemolysis caused by mutations in globin | 71 | ||
| Neonatal hemolytic anemia of acquired causes | 72 | ||
| Infantile pyknocytosis | 72 | ||
| Maternal medications | 72 | ||
| Perinatal infections | 72 | ||
| Vitamin E deficiency | 72 | ||
| REFERENCES | 73 | ||
| 7 - Using the New Complete Blood Count Parameters in Neonatal Intensive Care Unit Practice | 75 | ||
| Reticulocyte parameters | 75 | ||
| Absolute reticulocyte count | 76 | ||
| Immature reticulocyte fraction | 77 | ||
| Reticulocyte hemoglobin content | 77 | ||
| Quantifying the leukocyte left shift | 79 | ||
| Immature platelet fraction | 81 | ||
| Summary | 84 | ||
| REFERENCES | 85 | ||
| 8 - How Near Are We to Using Darbepoetin or Erythropoietin as Neuroprotective Agents for Perinatal Hypoxic-Ischemic Encephalopathy? | 87 | ||
| Neonatal encephalopathy caused by hypoxic-ischemic encephalopathy | 87 | ||
| Neuroprotective strategies that can complement therapeutic hypothermia | 88 | ||
| Hypoxia-ischemia and erythropoiesis-stimulating agents | 88 | ||
| Overview of erythropoiesis-stimulating agents in neuroprotection | 89 | ||
| Preclinical trials of molecular mechanisms of neuroprotection | 89 | ||
| Preclinical studies combining hypothermia and erythropoiesis-stimulating agents | 90 | ||
| Erythropoiesis-stimulating agents pharmacokinetics under hypothermic conditions | 91 | ||
| Erythropoiesis-stimulating agents levels in central nervous systems | 92 | ||
| Rationale for Erythropoiesis-stimulating agent Dosing for Neuroprotection | 93 | ||
| Safety concerns with erythropoiesis-stimulating agents | 94 | ||
| Clinical trials of erythropoiesis-stimulating agents and neonatal neuroprotection | 95 | ||
| Clinical studies of erythropoiesis-stimulating agents as adjunctive therapy to hypothermia for neonatal encephalopathy | 96 | ||
| Conclusion | 97 | ||
| REFERENCES | 97 | ||
| 9 - How Do We Adopt Anemia-Preventing Strategies in Our Delivery Rooms? | 103 | ||
| Normal hemoglobin at birth | 103 | ||
| Prevalence of anemia | 103 | ||
| Transfusion rates | 107 | ||
| Transfusion risks | 107 | ||
| Intraventricular hemorrhage | 107 | ||
| Necrotizing enterocolitis | 107 | ||
| Bronchopulmonary dysplasia | 108 | ||
| Mortality | 108 | ||
| Decreasing anemia and transfusions in the delivery room: two interventions | 108 | ||
| Placental transfusion | 109 | ||
| Optimal timing of delayed cord clamping | 111 | ||
| Risks of placental transfusion | 111 | ||
| Benefits of placental transfusion | 111 | ||
| Long-term outcomes | 111 | ||
| Society recommendations | 112 | ||
| Use of umbilical cord blood for admission laboratory testing | 113 | ||
| Placental anatomy | 113 | ||
| Laboratory tests performed on umbilical cord blood | 113 | ||
| Complete blood count | 113 | ||
| Blood culture | 115 | ||
| Blood type and antibody screen | 115 | ||
| Newborn metabolic screen | 116 | ||
| Neonatal outcomes of umbilical cord blood sampling | 116 | ||
| Conclusion | 116 | ||
| REFERENCES | 116 | ||
| 10 - Thrombocytopenia in Infants with Necrotizing Enterocolitis | 121 | ||
| Severity and timing of thrombocytopenia | 121 | ||
| Pathophysiology of thrombocytopenia | 122 | ||
| Platelet transfusions for necrotizing enterocolitis | 123 | ||
| Potential alternative therapies for thrombocytopenia | 124 | ||
| Summary | 124 | ||
| REFERENCES | 124 | ||
| 11 - Genetic Basis of Necrotizing Enterocolitis | 127 | ||
| Single nucleotide polymorphisms associated with immune or microbial response or cytokines | 128 | ||
| Single nucleotide polymorphisms associated with vascular function or antioxidants | 130 | ||
| Single nucleotide polymorphisms in other genes | 131 | ||
| Genome-wide association studies | 131 | ||
| Summary | 132 | ||
| REFERENCES | 132 | ||
| 12 - Genetic Basis of Patent Ductus Arteriosus | 137 | ||
| Genetic approaches to patent ductus arteriosus | 137 | ||
| Linkage analysis | 137 | ||
| Twin and family-based studies | 138 | ||
| Genome-Wide Association Studies | 138 | ||
| Next-Generation Sequencing | 138 | ||
| Animal models of patent ductus arteriosus genetics | 139 | ||
| Patent ductus arteriosus in term infants | 140 | ||
| Patent ductus arteriosus in preterm infants | 141 | ||
| Patent ductus arteriosus and environmental risk factors | 142 | ||
| Treatment | 144 | ||
| Conclusion | 145 | ||
| REFERENCES | 145 | ||
| 13 - Genetic Basis of Bronchopulmonary Dysplasia | 149 | ||
| Investigating the contribution of genetics to disease pathogenesis | 149 | ||
| Twin studies in bronchopulmonary dysplasia | 151 | ||
| Variants associated with lung growth and development | 154 | ||
| SPOCK2 | 154 | ||
| Matrix metalloproteinase 16 | 154 | ||
| Thrombospondin 1, cluster of differentiation 36, protein-C-ets-1, and lymphoid enhancing binding factor | 154 | ||
| Vascular endothelial growth factor | 155 | ||
| Interleukin (IL)-6 and -10 | 155 | ||
| Dystroglycan | 156 | ||
| The Wnt signaling pathway | 156 | ||
| Variants associated with inflammatory pathways | 156 | ||
| Interleukin-18 | 156 | ||
| Interferon-gamma | 157 | ||
| Tumor-necrosis-alpha | 157 | ||
| Toll-like receptors | 157 | ||
| Kit ligand | 158 | ||
| Superoxide dismutase | 158 | ||
| Nuclear factor–erythroid-2–related factor 2 | 159 | ||
| Macrophage migration inhibitory factor | 159 | ||
| Mannose binding lectin | 159 | ||
| Miscellaneous | 160 | ||
| Vitamin D receptor | 160 | ||
| Factor VII | 160 | ||
| Surfactant proteins | 160 | ||
| Epigenetics | 161 | ||
| Micro-RNAs | 161 | ||
| Conclusion | 161 | ||
| REFERENCES | 162 | ||
| 14 - Prenatal Genetic Testing | 165 | ||
| Chromosomal microarray analysis | 166 | ||
| Should prenatal chromosome microarray technology replace a standard karyotype for diagnostic studies? | 166 | ||
| Screening for fetal aneuploidy | 167 | ||
| Validation studies: noninvasive prenatal screening versus conventional screening | 168 | ||
| Noninvasive prenatal screening controversies | 169 | ||
| Should noninvasive prenatal screening replace conventional screening for average-risk singleton pregnancies? | 169 | ||
| Should first-trimester ultrasound be eliminated when noninvasive prenatal screening is normal? | 169 | ||
| Expanded carrier screening | 170 | ||
| Should expanded carrier screening be universal? | 170 | ||
| What should be the lowest carrier frequency of conditions used to determine universal carrier screening? | 170 | ||
| Summary | 171 | ||
| REFERENCES | 171 | ||
| 15 - Early Diagnosis of Severe Combined Immunodeficiency | 173 | ||
| Stages of T-cell development | 174 | ||
| T-cell receptor excision circles | 174 | ||
| Newborn screening for SCID | 175 | ||
| Challenges and ethical questions | 177 | ||
| Approach to abnormal screening | 178 | ||
| Clinical features | 179 | ||
| SCID variants identified before screening | 179 | ||
| SCID variants identified after screening | 179 | ||
| Prematurity | 179 | ||
| Immunologic features | 183 | ||
| Genetic variability | 183 | ||
| X-linked SCID | 184 | ||
| RAG-deficient SCID | 184 | ||
| Adenosine deaminase SCID | 184 | ||
| SCID with cartilage-hair hypoplasia | 185 | ||
| Radiosensitive SCID | 185 | ||
| SCID phenotype with absent thymus (athymia) | 185 | ||
| Genetic approach beyond SCID genetic panel | 185 | ||
| X-inactivation studies | 186 | ||
| Beyond newborn screening for SCID: genetic testing for primary immunodeficiencies in infancy | 186 | ||
| Management of SCID | 186 | ||
| Vaccines | 186 | ||
| Prophylaxis | 186 | ||
| Hematopoietic stem cell transplantation | 186 | ||
| Gene therapy | 187 | ||
| Adenosine deaminase enzyme replacement therapy | 187 | ||
| Public health impact | 188 | ||
| REFERENCES | 188 | ||
| 16 - Newborn Screening | 195 | ||
| Newborn screening process | 196 | ||
| False-positive results in neonatal intensive care unit | 196 | ||
| Evolution of the newborn screening panel | 196 | ||
| Disorders in recommended uniform screening panel | 197 | ||
| Endocrine disorders | 197 | ||
| Hemoglobin disorders | 198 | ||
| Metabolic disorders | 200 | ||
| Organic acidemias | 200 | ||
| Fatty acid oxidation disorders | 200 | ||
| Amino acid disorders | 200 | ||
| Genetic disorders | 201 | ||
| Other disorders | 202 | ||
| Future directions | 202 | ||
| Summary and conclusion | 202 | ||
| REFERENCES | 203 | ||
| Index | 205 | ||
| A | 205 | ||
| B | 205 | ||
| C | 206 | ||
| D | 206 | ||
| E | 206 | ||
| F | 207 | ||
| G | 207 | ||
| H | 207 | ||
| I | 208 | ||
| J | 209 | ||
| K | 209 | ||
| L | 209 | ||
| M | 209 | ||
| N | 209 | ||
| O | 210 | ||
| P | 210 | ||
| R | 211 | ||
| S | 211 | ||
| T | 212 | ||
| U | 213 | ||
| V | 213 | ||
| W | 213 | ||
| X | 213 | ||
| Z | 213 | ||
| IBC | ES2 |