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Avery's Diseases of the Newborn E-Book

Avery's Diseases of the Newborn E-Book

Christine A. Gleason | Sherin Devaskar

(2011)

Additional Information

Book Details

Abstract

Avery’s Diseases of the Newborn, edited by Christine A. Gleason and Sherin U. Devaskar, is a practical, clinical reference for diagnosing and managing of all the important diseases affecting newborns. Thoroughly revised by a team of new editors, this edition provides new perspectives and updated coverage of genetics, nutrition, respiratory conditions, MRSA, neonatal pain, cardiovascular fetal interventions, care of the late preterm infant, and more. This authoritative reference is ideal as a clinical resource or subspecialty review tool.

  • Treat newborns effectively with focused coverage of diagnosis and management, including pertinent developmental physiology and the pathogenesis of neonatal problems.
  • Meet every challenge you face in neonatology with Avery’s authoritative, comprehensive clinical resource and subspecialty review tool.
  • Navigate quickly and easily with extensive cross-referencing throughout the organ-related sections.
  • Stay current with coverage of hot topics including MRSA, neonatal pain, cardiovascular fetal interventions, care of the late preterm infant, and the developing intestinal microbiome.
  • Tap into the fresh perspectives of new editors who provide extensive updates throughout, particularly on genetic and respiratory disorders.
  • Apply the latest nutritional findings with thorough discussions of this valuable information in the more comprehensive nutrition section.
  • Master the fundamentals of neonatology through the greater emphasis on developmental biology and pathobiology.

Table of Contents

Section Title Page Action Price
Front Cover Cover
IFC IFC
Avery’s Diseases Of The Newborn iii
Copyright iv
Contributors v
Preface xiii
Dedication xv
Contents xvii
Part I Overview 1
Chapter 1 - Neonatal and Perinatal Epidemiology 1
Epidemiologic Approaches To The Perinatal And Neonatal Periods 1
Health Disorders Of Pregnancy And The Perinatal Period 1
Factors Affecting Perinatal Health 5
Epidemiologic Study Designs In The Perinatal Period 6
Summary 8
Acknowledgments 9
Suggested Readings 9
Chapter 2 - Evaluation of Therapeutic Recommendations, Database Management, and Information Retrieval 10
Background 10
Biomedical And Health Informatics 10
Databases 11
Electronic Health Record 13
Evaluating Therapeutic Recommendations 15
Online Information Retrieval 16
Suggested Readings 17
Chapter 3 - Ethics, Data, and Policy in Newborn Intensive Care 18
Philosophy 18
Data 18
Policy 19
Future Directions 21
Summary 22
Suggested Readings 22
Chapter 4 - Global Neonatal Health 23
Child Mortality 23
Epidemiology Of Neonatal Mortality (Before 28 Days) 26
Maternal Risk Factors For Neonatal Death 27
Stillbirths 28
Direct Causes Of Neonatal Death 28
Consequences Of Preterm Delivery And Low BirthWeight 29
Neonatal Sepsis And Pneumonia 29
Asphyxia 31
Providing A Continuum Of Care 32
Resources 33
Funding 34
Career Opportunities 35
The Way Forward: Data, Collaboration, Evaluation, And Involvement 35
Suggested Readings 36
Part II Fetal Development 37
Chapter 5 - Immunologic Basis of Placental Function and Diseases: the Placenta, Fetal Membranes, and Umbilical Cord 37
Mammalian Placentation 37
Functions Of The Placenta 39
Trophoblast Differentiation And Remodeling Of Spiral Arteries 41
Immune Profile And Immuno Vascular Balance During Placentation 42
Epigenetic Regulation In The Placenta 45
Placental Diseases 47
Fetal Membranes And Their Pathology 49
Umbilical Cord 50
Suggested Readings 50
Chapter 6 - Abnormalities of Fetal Growth 51
Definitions 51
Macrosomia 58
Summary 59
Suggested Readings 59
Chapter 7 - Multiple Gestations and Assisted Reproductive Technology 60
Epidemiology of Multiples 60
Diagnosing Zygosity and Chorionicity 60
Zygosity and Chorionicity 60
Increase in Monozygotic Twins With Assisted Reproductive Technology 61
Fetal Complications Associated With Multiples 63
Maternal Complications 64
Psychosocial Factors 64
Cost 65
Decreasing the Risk of Multiples 65
Multifetal Pregnancy Reduction 66
Summary 66
Suggested Readings 66
Chapter 8 - Nonimmune Hydrops 67
Etiology 67
Pathophysiology 67
Prenatal Diagnosis 70
Prenatal Management 70
Neonatal Evaluation 71
Intensive Care of the Infant With Hydrops Fetalis 71
Clinical Course and Outcome 72
Suggested Readings 73
Part III Maternal Health Affecting Neonatal Outcome 75
Chapter 9 - Endocrine Disorders in Pregnancy 75
Diabetes in Pregnancy 75
Disorders of the Thyroid 87
Suggested Readings 91
Chapter 10 - Maternal Medical Disorders of Fetal Significance: Seizure Disorders, Isoimmunization, Cancer, and Mental Health Disorders 92
Maternal Seizure Disorders 92
Red Blood Cell Isoimmunization 93
Cancer 97
Mental Disorders 101
Suggested Readings 104
Chapter 11 - Hypertensive Complications of Pregnancy 105
Classification of Hypertensive Disorders of Pregnancy 105
Chronic Hypertension 105
Gestational Hypertension 107
Preeclampsia-Eclampsia 107
Suggested Readings 110
Chapter 12 - Perinatal Substance Abuse 111
Epidemiology of Perinatal Substance Exposure 111
Perinatal Effects of Specific Drugs (Table 12-1) 113
Identifying Pregnancies and Babies at Risk 120
Pregnancy Management 121
Neonatal Management after Gestational Substance abuse 122
Long-Term Effects of Perinatal Substance Abuse 126
Summary 128
Suggested Readings 128
Part IV labor and delivery 129
Chapter 13 - Antepartum Fetal Assessment 129
General Principles 129
Fetal Assessment in Low Risk Pregnancies 131
Fetal Assessment in High-Risk Pregnancies 132
Summary 139
Suggested Readings 139
Chapter 14 - Prematurity: Causes and Prevention 140
Burden of Preterm Birth 140
Definitions 140
Epidemiology 140
Etiology and Risk Factors 140
Behavioral and psychological contributors 140
Summary 145
Suggested Readings 145
Chapter 15 - Complicated Deliveries: Overview 146
Cesarean Section 146
Complicated Vaginal Delivery: Obstetric Forceps And Vacuum Extraction 147
Shoulder Dystocia 152
Vaginal Breech Delivery 153
Multifetal Delivery 155
Vaginal Birth After Cesarean: Neonatal Issues 157
Cord Accidents 158
Suggested Readings 158
Chapter 16 - Obstetric Analgesia and Anesthesia 159
History of Obstetric Anesthesia 159
Anatomy of Labor Pain 159
Changes in Maternal Physiology and The Implications 159
Analgesic Options for Labor and Vaginal Delivery 161
Neuraxial Techniques for Labor Analgesia 164
Anesthesia for Cesarean Delivery 168
Summary 171
Suggested Readings 171
Part V Genetics 173
Chapter 17 - Impact of the Human Genome Project on Neonatal Care 173
History Of The Human Genome Project 173
Science And The Human Genome 174
Ethical Aspects Of Human Genetics 179
Summary 179
Suggested Readings 179
Chapter 18 - Prenatal Genetic Diagnosis 180
Noninvasive Techniques 180
Invasive Techniques 183
Summary 185
Suggested Readings 185
Chapter 19 - Evaluation of the Dysmorphic Infant 186
History 186
Pedigree Analysis and Family History 187
Physical Examination for Dysmorphology 188
Literature Review 192
Specialized Laboratory Tests 194
Diagnosis 194
Summary 195
Suggested Readings 195
Chapter 20 - Specific Chromosome Disorders in Newborns 196
Human Karyotype 196
Trisomies 197
Deletion Syndromes 201
DNA Microarrays 202
Segmental Duplications and Microdeletion Syndromes 202
Disorders of Imprinted Chromosomes 206
Summary 208
Suggested Readings 208
Part VI Metabolic and Endocrine Disorders of the Newborn 209
Chapter 21 - Introduction to Metabolic and Biochemical Genetic Disease 209
Classification of Inborn Errors of Metabolism 210
Signs and Symptoms of Inborn Errors 213
Emergency Treatment 213
Suggested Readings 214
Chapter 22 - Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism 215
Inborn Errors of Carbohydrate Metabolism 215
Inborn Errors of Amino Acid Metabolism 221
Inborn Errors of Organic Acid Metabolism 226
Suggested Readings 238
Chapter 23 - Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome in the Neonate 239
Lysosomal Storage Disorders 239
Congenital Disorders of Glycosylation 249
Peroxisomal Disorders 252
Smith-Lemli-Opitz Syndrome 255
Suggested Readings 257
Chapter 24 - Skeletal Dysplasias and Connective Tissue Disorders 258
Clinical Spectra of Disorders with Common Molecular Bases 258
Approach to Diagnosis 258
Clinical Testing 261
Disorders of Bone Fragility 261
FGFR3 Spectrum 264
COL2A1 Spectrum 267
DTDST Spectrum 269
Other Skeletal Dysplasias 271
Connective Tissue Disorders 272
Suggested Readings 276
Part VII Care of the Healthy Newborn 277
Chapter 25 - Initial Evaluation: History and Physical Examination of the Newborn 277
History 277
Physical Examination 279
Suggested Readings 299
Chapter 26 - Routine Newborn Care 300
Initial Assessment 300
Routine Testing 301
Car Seat Trials 303
Routine and Common Medical Treatments 304
Ongoing Care 306
Common Problems during the Nursery Stay 310
Suggested Readings 315
Chapter 27 - Newborn Screening 316
Screening Procedure 316
Screened Disorders 321
Specific Issues in Newborn Screening 325
The Future 327
Suggested Readings 327
Chapter 28 - Resuscitation in the Delivery Room 328
Fetal Transition to Extrauterine Life 328
Environment and Preparation 330
Assessment 332
Initial Steps: Temperature Management and Maintaining the Airway 332
Assisting Ventilation 334
Transitional Oxygenation and Oxygen Use 336
Assisting Circulation 337
Specific Problems Encountered during Resuscitation 338
Suggested Readings 340
Part VIII Care of the High-Risk Infant 341
Chapter 29 - Stabilization and Transport of the High-Risk Infant 341
Neonatal Transport Medicine 341
Patient Care During Transport 347
Suggested Readings 356
Chapter 30 - Temperature Regulation of the Premature Neonate 357
Cold Stress 357
Physical Routes of Heat Loss 357
Physiology of Cold Response 357
Modern Incubation: Incubators and Radiant Warmers 358
Hybrid Incubator-Radiant Warmer Technology 360
Less Conventional Techniques 362
Special Cases 363
Therapeutic Hypothermia for Brain Protection Following Neonatal Asphyxia 365
Summary 366
Suggested Readings 366
Chapter 31 - Acid-Base, Fluid, and Electrolyte Management 367
Fluid and Electrolyte Balance 367
Acid-Base Balance 383
Suggested Readings 389
Chapter 32 - Care of the Extremely Low-Birthweight Infant 390
Epidemiology 390
Perinatal Management 391
Prenatal Consultation 392
General Principles of Care Specific to Extremely Low-Birthweight Infants 393
Neurosensory Complications 402
Future Directions 404
Chapter 33 - Care of the Late Preterm Infant 405
Definition 405
Pathophysiology and Clinical Course 406
Mortality 414
Recommendations 414
Future Research 416
Suggested Readings 416
Chapter 34 - Pharmacokinetics, Pharmacodynamics, and Pharmacogenetics 417
Principles of Neonatal Therapeutics 417
Pharmacogenetics and Pharmacogenomics 419
Pharmacokinetic Principles 420
Pharmacokinetic Practical Examples 425
Drug-Induced Illness 426
Lessons From Chloramphenicol 427
Reduction and Prevention of Medication Errors in Newborn Care 427
Drug Excretion in Breast Milk 428
Summary 428
Suggested Readings 428
Chapter 35 - Neonatal Pain and Stress: Assessment and Management 429
History and Development of Public Policies 429
Ontogeny and Development of Pain and Stress Responses 430
Assessment of Neonatal Pain and Stress 432
Long-Term Consequences of Neonatal Pain and Stress 434
Clinical Pain and Stress Management Strategies 435
Pharmacologic Analgesia Interventions 438
Nonpharmacologic Analgesic Interventions 441
Iatrogenic Drug Dependence, Tolerance, Withdrawal 441
Drug Weaning Considerations 442
Palliative Care 442
Summary 442
Suggested Readings 444
Part IX Immunology and Infections 445
Chapter 36 - Immunology of the Fetus and Newborn 445
Maternal and Placental Immunology 445
Developmental Fetal-Neonatal Immunology 449
Specific Immunologic Deficiencies 461
Immunization 465
Suggested Readings 467
Chapter 37 - Viral Infections of the Fetus and Newborn and Human Immunodeficiency Virus Infection during Pregnancy* 468
General Diagnostic Approach 468
Herpesviridae 470
Herpes Simplex Virus Infections 470
Rubella 489
Lymphocytic Choriomeningitis Virus 492
Enteroviruses 494
Human Parechovirus 498
Hepatitis Viruses 498
Adenovirus 503
Respiratory Viruses 503
Gastrointestinal Viruses 505
Suggested Readings 512
Chapter 38 - Toxoplasmosis, Syphilis, Malaria, and Tuberculosis 513
Toxoplasmosis 513
Syphilis 517
Congenital Malaria 522
Congenital Tuberculosis 529
Suggested Readings 537
Chapter 39 - Neonatal Bacterial Sepsis 538
Neonatal Bacterial Sepsis 538
Pathogenesis of Early-Onset Neonatal Bacterial Infections 538
Epidemiology of Early-Onset Bacterial Infections 539
Bacterial Pathogens In Early-Onset Infections 539
Laboratory Testing 543
Prevention 546
Treatment 547
Neonatal Bacterial Meningitis 549
Suggested Readings 550
Chapter 40 - Health Care–Acquired Infections in the Nursery 551
Definitions 551
Incidence 551
Anatomic Sites of Infection 552
Risk Factors 553
Distribution by Pathogen 555
Epidemics 558
Infection Control 559
Prevention of Health care–Acquired Infections 559
Management of Health care–Acquired Infections 563
Conclusion 564
Suggested Readings 564
Chapter 41 - Fungal Infections in the Neonatal Intensive Care Unit 565
Epidemiology 565
Infections Caused By Candida Species 565
Systemic Infection 567
Infections Ascribable To Other Fungi 568
Suggested Readings 569
Part X Respiratory System 571
Chapter 42 - Lung Development: Embryology, Growth, Maturation, and Developmental Biology 571
Key Events in Lung Development 571
Mechanisms of Lung Development 577
Other Topics in Lung Development 580
Novel Concepts in Lung Development 581
Summary 583
Suggested Readings 583
Chapter 43 - Control of Breathing 584
Animal Models of Control of Breathing 584
Overview of Respiratory Control 584
Respiratory Center Neuroanatomy 586
Peripheral Mechanoreceptor Inputs that Modulate Respiratory Pattern and Rhythm 588
Chemical Control of Breathing (Co2/H+ and O2) 590
Sleep State and Breathing 593
Apnea of Prematurity 594
Therapeutic Approaches for Apnea of Prematurity 595
Resolution and Consequences of Neonatal Apnea 596
Suggested Readings 597
Chapter 44 - Pulmonary Physiology of the Newborn 598
Lung Mechanics and Lung Volumes 598
Alveolar Ventilation 602
Ventilation-Perfusion Relationships 604
Heart-Lung Interaction 605
Suggested Readings 611
Chapter 45 - Principles of Respiratory Monitoring and Therapy 612
Respiratory Monitoring 612
Oxygen Therapy 614
Noninvasive Respiratory Support 616
Invasive Mechanical Ventilation 618
Acute Complications of Respiratory Support 629
Suggested Readings 632
Chapter 46 - Respiratory Distress in the Preterm Infant 633
Introduction 633
Respiratory Distress Syndrome 633
Pulmonary Hypoplasia 642
Pneumonia 645
Suggested Readings 646
Chapter 47 - Respiratory Failure in the Term Newborn 647
Evaluation of the Term Newborn with Hypoxemia/Respiratory Distress 647
Persistent Pulmonary Hypertension of the Newborn 650
Specific Pulmonary Conditions Causing Respiratory Distress in the Term Newborn 651
Summary 656
Suggested Readings 657
Chapter 48 - Bronchopulmonary Dysplasia 658
Historical Overview 658
Bronchopulmonary Dysplasia 658
Summary 671
Suggested Readings 671
Chapter 49 - Surgical Disorders of the Chest and Airways 672
Anomalies of the Airways 672
Disorders of the Mediastinum 677
Disorders of the Chest Wall 680
Disorders of the Pleural Cavity 681
Congenital Thoracic Masses and Cysts 684
Disorders of the Diaphragm 690
Suggested Readings 697
Part XI Cardiovascular System 699
Chapter 50 - Embryology and Physiology of the Cardiovascular System 699
Cell Types within the Heart and their Origins 701
Formation of the Embryonic Cardiac Crescent and Heart Tube 702
Looping and Laterality of the Heart Tube 702
Ventricular Inlet Septation: Endocardial Cushions 704
Ventricular Outflow Tract Septation: Contribution of Endocardial Cushions 705
Ventricular Outflow Tract Septation: Role of Neural Crest 706
Separation of Aorta and Pulmonary Artery: Normal Dextroposition 707
Cardiac Valve Formation 707
Development of the Ventricles and Ventricular Septum 708
Development of the Atria and Atrial Septum 708
Systemic and Pulmonary Vein Development 709
Aortic Arch Development 709
Coronary Arteries 710
Conduction System 711
Physiology of Transition 711
Summary 712
Suggested Readings 712
Chapter 51 - Cardiovascular Compromise in the Newborn Infant 714
Pathophysiology, Phases, and Etiology of Neonatal Shock 714
Diagnosis of Circulatory Compromise 721
Treatment 724
Suggested Readings 731
Chapter 52 - Persistent Pulmonary Hypertension 732
Normal Fetal Pulmonary Vascular Development and Transition 732
Pathophysiology of PPHN 732
Other Causes of Neonatal Pulmonary Hypertension 735
Clinical Evaluation of infants with PPHN 735
General Management for pphn 737
Inhaled Nitric Oxide for PPHN 737
New Insights into PPHN Pathophysiology and Treatment 738
Summary 739
Suggested Readings 740
Chapter 53 - Fetal and Neonatal Echocardiography 741
Application of Ultrasound to Cardiac Imaging 741
Fetal Imaging Techniques 743
Neonatal Imaging Techniques 744
Fetal Echocardiography: Goals of Imaging 745
Neonatal Echocardiography: Goals of Imaging 746
Fetal-to-Neonatal Transition Physiology: Echocardiography-Derived Assessment 747
Limitations of Echocardiography 748
Other Cardiovascular Imaging Modalities 748
Summary 749
Acknowledgments 750
Chapter 54 - Patent Ductus Arteriosus in the Preterm Infant 751
Diagnosis 751
Incidence 751
Regulation of Ductus Arteriosus Patency 751
Hemodynamic and Pulmonary Alterations 757
Treatment 758
Suggested Readings 761
Chapter 55 - Congenital Heart Disease 762
General Considerations 762
Murmurs in the Newborn: Congenital Cardiac Lesions 766
Cyanosis in the Newborn 772
Lesions that manifest Primarily with Heart Failure 780
Chapter 56 - Arrhythmias in the Newborn and Fetus 789
Pathophysiology of Arrhythmias in the Neonate and Fetus 789
Neonatal Rhythms 789
Neonatal Management 794
Fetal Rhythms 796
Fetal Management 798
Suggested Readings 800
Chapter 57 - Neurodevelopmental Outcomes in Children with Congenital Heart Disease 801
Scope Of The Problem 801
Mechanisms Of Injury 801
The Effect On The Brain Of Cardiac Surgery 804
pH Management 805
Hematocrit During Bypass 805
Deep Hypothermic Circulatory Arrest 805
Postoperative Factors 806
Genetic Susceptibility To Neurologic Injury And Developmental Dysfunction 807
Hypoplastic Left Heart Syndrome 807
Functional Status After Repair Of Complex Congenital Heart disease 808
Summary 808
Suggested Readings 809
Part XII Neurologic System 811
Chapter 58 - Developmental Physiology of the Central Nervous System 811
Central Nervous System Vascular Development 811
Regulation of Cerebral Blood Flow and Energy Metabolism 812
Suggested Guidelines for Cerebrovascular and Metabolic Care in High-Risk Newborns 815
Suggested Readings 815
Chapter 59 - Neonatal Neuroimaging 816
Ultrasonography 816
Computed Tomography 819
Magnetic Resonance Imaging 820
Choosing the Appropriate Test 825
Imaging Applications 825
Advantages and Disadvantages of Neuroimaging Techniques 842
Summary of Neuroimaging Practice Guidelines 843
Suggested Readings 843
Chapter 60 - Congenital Malformations of the Central Nervous System 844
Primary and Secondary Neural Tube Formation (Neurulation) 844
Neural Tube Defects 845
Prosencephalic Cleavage and Related Events 853
Malformations of Structures in the Posterior Fossa 858
Central Nervous System Development in the Postembryonic Period 860
Summary 868
Chapter 61 - Central Nervous System Injury and Neuroprotection 869
Injury and Protection in the Developing Nervous System 869
Strategies for Neuroprotection 886
Cell Death Inhibitors 890
Summary 891
Suggested Readings 891
Chapter 62 - Neonatal Neuromuscular Disorders 892
Primary Muscle Disorders 892
Motor Neuron Disorders 897
Myasthenia Gravis 898
Investigation of Neuromuscular Diseases in the Neonate 899
Suggested Readings 900
Chapter 63 - Neonatal Seizures 901
Diagnostic Dilemmas: Identifying Causes for Seizures 908
Seizures Reflecting Fetal or Neonatal Brain Disorders: Guide to Differential Diagnosis 913
Challenges Regarding Prognostic Assessments 914
Diagnostic Dilemmas Regarding Treatment Choices 915
Effects Of Neonatal Seizures On Brain Development: Consequences Of Underdiagnosis 917
Suggested Readings 918
Chapter 64 - Risk Assessment and Neurodevelopmental Outcomes 920
Risk of Neurodevelopmental Disability 920
Neurodevelopmental Outcome 921
Health and Growth 931
Follow-Up Evaluation of the High-Risk Infant 932
Summary 934
Suggested Readings 935
Part XIII Nutrition 937
Chapter 65 - Breastfeeding 937
Rates of Breastfeeding in the United States 937
Interventions to Support Breastfeeding Initiation and Continuation 937
The Evidence to Support Breastfeeding 938
Contraindications to Breastfeeding 944
Anatomy and Physiology of Lactation 944
The Management of Breastfeeding 946
Maternal Breastfeeding Issues 948
Jaundice and Breastfeeding 949
Collection and Storage of Human Milk 950
Donor Human Milk 950
Conclusion 951
Suggested Readings 951
Suggested Internet Resources 951
Chapter 66 - Enteral Nutrition for the High-Risk Neonate 952
Macronutrient Requirements in the Enterally Fed Premature Neonate 952
Composition of Human Milk and Premature Formulas 954
Initiation and Advancement of Enteral Feeds 958
Gastrointestinal Priming 958
Mineral, Vitamin, and Trace Element Supplementation 959
Postdischarge Nutrition for the Premature Infant 961
Suggested Readings 962
Chapter 67 - Parenteral Nutrition 963
Components of Parenteral Nutrition 963
Use Of Parenteral Nutrition in the Neonatal Intensive Care Unit: A Practical Approach 970
Suggested Readings 971
Part XIV Gastrointestinal System 973
Chapter 68 - Developmental Anatomy and Physiology of the Gastrointestinal Tract 973
Structural and Functional Development 973
Foregut 973
Midgut and Hindgut 974
Digestive Physiology 977
Suggested Readings 978
Chapter 69 - Structural Anomalies of the Gastrointestinal Tract 979
Disorders of The Mouth and Neck 979
Disorders of the Esophagus 980
Disorders of the Stomach 984
Disorders Of The Intestine 985
Suggested Readings 993
Chapter 70 - Innate and Mucosal Immunity in the Developing Gastrointestinal Tract: Relationship to Early and Later Disease 994
Development of the Intestinal Tract 994
Coordinated Layers of Defense: Putting it All Together 998
Exogenous Exposures and Their Impact on Innate Intestinal Immune Defenses 1000
Impact of Altered Mucosal Immunity on Early and Later Disease 1003
Conclusion 1005
Suggested Readings 1006
Chapter 71 - Abdominal Wall Problems 1007
Disorders of the Umbilical Region 1007
Umbilical Cord Lesions 1007
Abdominal Wall Defects 1007
Urachal Lesions 1013
Malformations of the Omphalomesenteric Duct 1013
Suggested Readings 1015
Chapter 72 -The Developing Intestinal Microbiome: Implications for the Neonate 1016
The Microbiome 1016
Activities Of The Intestinal Microbiome 1018
Development Of The Intestinal Microbiome 1018
Nutrition And The Developing Intestinal Microbiome 1020
Probiotics 1020
Conclusion 1021
Suggested Readings 1021
Chapter 73 - Necrotizing Enterocolitis and Short Bowel Syndrome 1022
Necrotizing Enterocolitis 1022
Short Bowel Syndrome 1028
Suggested Readings 1029
Chapter 74 - Disorders of the Liver 1030
Approach To The Newborn With Liver Disease 1030
Infections of The Liver In The Newborn 1031
Disorders Of The Bile Ducts 1033
Metabolic Liver Disease 1040
Gallstones and Cholecystitis 1044
Liver Tumors 1044
Suggested Readings 1045
Part XV Hematologic System and Disorders of Bilirubin Metabolism System 1047
Chapter 75 - Developmental Biology of the Hematologic System 1047
Embryonic Hematopoiesis 1047
Stem Cell Biology 1047
Developmental Aspects Of Erythropoiesis 1048
Red Blood Cell Transfusion 1052
Bilirubin Metabolism 1053
Developmental Aspects Of Megakaryocytopoiesis 1053
Platelet Transfusions 1054
Developmental Aspects Of Granulocytopoiesis 1054
Overview Of Hematopoietic Cytokines 1055
Acknowledgment 1055
Suggested Readings 1055
Chapter 76 - Hemostatic Disorders of the Newborn 1056
Overview of Hemostasis 1056
Developmental Hemostasis 1057
Introduction to Bleeding Disorders 1057
Hemorrhagic Disorders 1058
Thrombotic Disorders 1070
Suggested Readings 1079
Chapter 77 - Erythrocyte Disorders in Infancy 1080
Normal Erythrocyte Physiology In The Fetus And Newborn 1080
General Approach to Anemic Infants 1082
Hemorrhagic Anemia 1085
Hemolytic Anemia 1087
Hypoplastic Anemia 1099
Physiologic Anemia of Infancy and Prematurity 1100
Polycythemia 1103
Methemoglobinemia 1105
Suggested Readings 1107
Chapter 78 - Neonatal Leukocyte Physiology and Disorders 1108
Hematopoiesis 1108
Neonatal Neutropenia 1111
Qualitative Defects (Dysfunction) of Neonatal Phagocytic Immunity 1114
Negative Regulators of Hematopoiesis 1117
Summary 1121
Acknowledgment 1122
Suggested Readings 1122
Chapter 79 - Neonatal Indirect Hyperbilirubinemia and Kernicterus 1123
Increased Hepatic Bilirubin load: Enhanced Enterohepatic Circulation 1123
Increased Hepatic Bilirubin Load: Hemolytic Disease 1123
Heritable Causes of Hemolysis: Red Cell Membrane Defects 1123
Decreased Hepatic Bilirubin Clearance 1126
Clinical Relevance 1128
Kernicterus: Chronic Bilirubin Encephalopathy 1134
Treatment Considerations 1137
Acknowledgments 1142
Suggested Readings 1142
Part XVI Neoplasia 1143
Chapter 80 - Congenital Malignant Disorders 1143
Epidemiology, Etiology, And Diagnosis Of Neonatal Malignancy 1143
Specific Neoplasms 1146
Treatment Considerations in Infants 1161
Conclusion 1162
Suggested Readings 1162
Part XVII Renal and Genitourinary Systems 1165
Chapter 81 - Renal Morphogenesis and Development of Renal Function 1165
Renal Morphogenesis 1165
Renal Function In Utero 1166
Postnatal Maturation of Renal Blood Flow 1166
Regulation of Body Fluid Tonicity and Volume 1169
Regulation of Acid-Base Balance 1172
Regulation of Potassium Homeostasis 1172
Regulation of Calcium, Phosphate, and Magnesium Homeostasis 1173
Summary 1174
Suggested Readings 1175
Chapter 82 - Clinical Evaluation of Renal and Urinary Tract Disease 1176
Prenatal Evaluation of Renal and Urinary Tract Disease 1176
Prenatal Management of Renal and Urinary Tract Disease 1177
Postnatal Evaluation of Renal and Urinary Tract Disease 1177
Summary 1181
Suggested Readings 1181
Chapter 83 - Developmental Abnormalities of the Kidneys 1182
Ectopic Kidney, Horseshoe Kidney, and Crossed Fused Ectopia 1182
Multicystic Kidney 1182
Renal Adysplasia and Dysplasia 1183
Ciliopathies 1185
Polycystic Kidneys 1186
Cystic Kidneys with Autosomal Recessive Inheritance 1188
Glomerulocystic Kidneys 1189
Dysgenetic Kidneys 1189
Overgrowth Syndromes 1189
In Utero Exposure to Teratogens 1190
Inborn Errors of Metabolism 1190
Chapter 84 - Developmental Abnormalities of the Genitourinary System 1191
Prenatal Diagnosis 1191
Hydronephrosis 1191
Obstructive Uropathy 1192
Disorders of the Genitalia 1200
Chapter 85 - Acute Kidney Injury and Chronic Kidney Disease 1205
Acute Kidney Injury 1205
Chronic Kidney Disease 1215
Suggested Readings 1221
Chapter 86 - Glomerulonephropathies and Disorders of Tubular Function 1222
Glomerulonephropathies 1222
Disorders of Renal Tubular Function 1224
Renal Tubular Hyperkalemia 1226
Congenital Nephrogenic Diabetes Insipidus 1227
Chapter 87 - Urinary Tract Infections and Vesicoureteral Reflux 1228
Urinary Tract Infections 1228
Vesicoureteral Reflux 1231
Suggested Readings 1234
Chapter 88 - Renal Vascular Disease in the Newborn 1235
Renal Arterial Obstruction 1235
Renal Vein Obstruction 1237
Renal Cortical and Medullary Necrosis 1238
Adrenal Hemorrhage 1238
Hypertension in the Newborn 1239
Suggested Readings 1244
Part XVIII Endocrine Disorders 1245
Chapter 89 - Embryology, Developmental Biology, and Anatomy of the Endocrine System 1245
Endocrine and Neuroendocrine Development in the Fetus and Perinatal Transition 1245
Molecular Determinants of Endocrine Development 1245
Steroidogenesis and the Maternal-Placental-Fetal Unit 1247
Hypothalamic-Pituitary-Adrenal Axis 1248
Hypothalamic-Pituitary-Thyroid Axis 1250
Endocrine Pancreas 1251
Parathyroid-Renal Axis 1252
Gonadal Axes 1252
Fetal and Neonatal Circadian Rhythms 1252
Developmental Origins of Health and Disease Hypothesis 1253
Environmental Endocrine Hypothesis 1253
Suggested Readings 1254
Chapter 90 - Disorders of Calcium and Phosphorus Metabolism 1255
Homeostatic Control of Calcium and Magnesium 1255
Homeostatic Control of Phosphorus 1255
Parathyroid-Renal Hormonal Axis 1256
Perinatal Mineral Metabolism 1258
Metabolic Bone Disease in Newborns and Infants 1269
Suggested Readings 1272
Chapter 91 - Disorders of the Adrenal Gland 1274
The Adrenal Gland 1274
Primary Adrenal Disorders 1277
Suggested Readings 1285
Chapter 92 - Ambiguous Genitalia in the Newborn 1286
General Considerations in the Approach to the Newborn with Ambiguous Genitalia 1286
Embryology of Sexual Differentiation 1286
Clinical Assessment of Disorders of Sex Differentiation 1289
Disorders Resulting in Ambiguous Genitalia 1293
Newborn Screening 1294
Prenatal Diagnosis and Treatment 1296
Overview of the Surgical Management of Disorders of sexual differentiation 1304
Conclusions 1305
Acknowledgment 1306
Suggested Readings 1306
Chapter 93 - Disorders of the Thyroid Gland 1307
Embryogenesis of Hypothalamic-Pituitary-Thyroid Axis 1307
Fetal-Placental-Maternal Thyroid Interaction 1307
Thyroid System Maturation 1308
Regulation of Thyroid Function 1309
Thyroid Hormone Synthesis 1309
Serum Protein Binding or Transport 1309
Fetal Thyroid Hormone Metabolism 1310
Extrauterine Thyroid Adaptation 1310
Congenital Hypothyroidism 1310
Neonatal Screening for Hypothyroidism 1312
Thyroid Dysgenesis 1314
Thyroid Dyshormonogenesis 1314
Central Hypothyroidism 1314
Hyperthyrotropinemia: Down Syndrome 1315
Consumptive Hypothyroidism 1315
Transient Primary Hypothyroidism 1315
Euthyroid Sick Syndrome 1315
Transient Hypothyroxinemia of Prematurity 1316
Low Triiodothyronine Syndrome in Premature Infants 1316
Iodine Deficiency 1316
Disorders of Thyroid Hormone Carrier Proteins 1317
Thyroxine-Binding Globulin Deficiency 1317
Thyroxine-Binding Globulin Excess 1317
Familial Dysalbuminemic Hyperthyroxinemia 1317
Therapy of Hypothyroidism 1317
Hyperthyroidism 1318
Suggested Readings 1319
Chapter 94 - Disorders of Carbohydrate Metabolism 1320
Definition of Hypoglycemia 1320
Signs and Symptoms 1320
Classification of Neonatal Hypoglycemia 1321
Hyperglycemia in the Neonate 1327
Suggested Readings 1329
Part XIX Craniofacial and Orthopedic Conditions 1331
Chapter 95 - Craniofacial Malformations 1331
Micrognathia/Robin Sequence 1331
Orofacial Clefting 1333
Craniosynostosis 1338
Charge Syndrome 1346
Macroglossia/ Beckwith-Wiedemann Syndrome 1347
Frontonasal Dysplasia, Hypertelorism, Encephalocele 1349
Prenatal Screening for Fetal Face Anomalies 1350
Suggested Readings 1350
Chapter 96 - Common Neonatal Orthopedic Ailments 1351
Developmental Dysplasia of the Hip 1351
Torticollis 1353
Foot Deformities 1354
Angular Deformities of the Lower Extremities 1356
Congenital Vertebral Malformations 1358
Obstetrical Trauma 1358
Neonatal Osteomyelitis and Septic Arthritis 1360
Suggested Readings 1361
Part XX Dermatologic Conditions 1363
Chapter 97 - Newborn Skin: Development and Basic Concepts 1363
Skin Development 1363
Newborn Skin 1364
Differential Diagnosis By Cutaneous Morphology 1367
Suggested Readings 1372
Chapter 98 - Congenital and Hereditary Disorders of the Skin* 1373
Genodermatoses and Mosaicism 1373
Specific Genodermatoses 1373
Suggested Readings 1389
Chapter 99 - Infections of the Skin 1390
Staphylococcus Aureus Infections 1390
Streptococcus Spp Infections 1392
Omphalitis 1392
Candida Albicans Infections 1392
Herpes Simplex Virus Infection 1395
Suggested Readings 1396
Chapter 100 -Common Newborn Dermatoses* 1397
Erythema Toxicum Neonatorum 1397
Transient Neonatal Pustular Melanosis 1398
Milia, Epstein Pearls, and Sebaceous Hyperplasia 1398
Miliaria 1399
Acne 1399
Seborrheic Dermatitis 1400
Atopic Dermatitis 1401
Diaper Dermatitis 1402
Harlequin Color Change 1403
Subcutaneous Fat Necrosis 1404
Sclerema Neonatorum 1404
Suggested Readings 1405
Chapter 101 - Cutaneous Congenital Defects* 1406
Vascular Anomalies 1406
Vascular Malformations 1410
Hypopigmented Lesions 1413
Melanin-Containing Lesions 1415
Tumors of Epithelial Origin 1419
Dermal Tumors 1419
Mastocytosis 1420
Midline Anomalies 1421
Suggested Readings 1421
Part XXI The Eye 1423
Chapter 102 - Disorders of the Eye 1423
General Examination Techniques 1423
Common Diagnostic Problems 1427
Color Plates CP1
Index 1441