Index

Fetal & Neonatal: Hematology, Oncology and Immunology MR Lokeshwar, Nitin K Shah, Anupam Sachdeva, Bharat R Agarwal, Mamta Vijay Manglani, Asha Pillai

SECTION 1: FETAL HEMATOLOGY AND ANTENATAL DIAGNOSIS OF HEMATOLOGICAL DISORDERS
CHAPTER 1:Physiology of Hematopoiesis
- INTRODUCTION
- STEPS IN FETAL HEMATOPOIESIS
- NORMAL BLOOD COUNTS IN FETUS
- REGULATION OF HEMATOPOIESIS
- STRESS ERYTHROPOIESIS
- ERYTHROID LINEAGE DIFFERENTIATION
  - Primitive Erythropoiesis
  - Definitive Erythropoiesis
- DIFFERENTIATION OF WHITE BLOOD CELLS
- CLINICAL SIGNIFICANCE OF FETAL HEMATOPOIESIS
- KEY POINTS
CHAPTER 2:Developmental Hemostasis and Physiology of Hemostasis in the Fetus and the Newborn
- INTRODUCTION
- PRIMARY HEMOSTASIS
- SECONDARY HEMOSTASIS
- NEONATAL HEMOSTASIS
  - Qualitative Abnormalities in Coagulation Factors in Fetal and Neonatal Period
  - Laboratory Diagnosis of Hemostasis in a Neonate
- ROLE OF MICRO-RNA IN DEVELOPMENTAL HEMOSTASIS
- SIGNIFICANCE OF UNDERSTANDING FETAL AND NEONATAL HEMOSTASIS
- CONCLUSION
CHAPTER 3:Granulocytes: Development and Physiology
- PRESENT KNOWLEDGE
- GRANULOPOIESIS
- INFECTION AND CYTOKINE
- INFECTION IN NEONATES: GRANULOCYTE RESPONSE
- FUTURE PERSPECTIVES
CHAPTER 4:Developmental Aspects of Platelets
- DEVELOPMENTAL ASPECTS OF PLATELETS
- MEGAKARYOCYTES DURING FETAL DEVELOPMENT
- MEGAKARYOCYTE MATURATION AND DEVELOPMENT
- PLATELET FORMATION
  - Transcriptional Control of Platelet Formation
- MEGAKARYOCYTE MATURATION
- ENDOMITOSIS
  - Thrombopoietin
  - c-Mpl
- PRACTICAL ASPECTS OF MEGAKARYOCYTE CELL BIOLOGY AND CLINICAL USE OF THROMBOPOIETIC AGENTS
CHAPTER 5:Fetal Anemia
- DEFINITION
- CAUSES OF FETAL ANEMIA
  - Brief Pathophysiology of Red Blood Cell Alloimmunization
  - Clinical Presentation and Diagnosis
- NONINVASIVE PREDICTORS OF FETAL ANEMIA
  - Antibody Titers in the Mother
- ULTRASONOGRAPHY-BASED PREDICTORS OF FETAL ANEMIA
- PLAN FOR CONSERVATIVE MANAGEMENT OR INVASIVE SAMPLING
  - Investigations to be Ordered in Fetal Blood in Case Cord Blood Sampling is Done
- INTRAUTERINE FETAL TRANSFUSION: THE TECHNIQUE
- CONCLUSION
- KEY POINTS
CHAPTER 6:Thalassemia in the Fetus: Prenatal Diagnosis
- INTRODUCTION
- PREVENTIVE STRATEGIES FOR BETA-THALASSEMIA
- CONCLUSION
- KEY POINTS
CHAPTER 7:Genetic Counseling for Hematological Disorders
- INTRODUCTION
- BURDEN OF THE INHERITED HEMATOLOGICAL DISORDERS
- GENETIC TESTING VERSUS GENETIC SCREENING
- INDIAN SCENARIO
  - Awareness and Screening: The Need for Population-based Programs
- GENETIC COUNSELING
- CONCLUSION
- KEY MESSAGE
CHAPTER 8:Fetal Hematological Disorders: Future Ahead
- INTRODUCTION
- DIAGNOSIS OF FETUS
  - Preimplantation Diagnosis and Noninvasive Genetic Diagnosis
  - Noninvasive Prenatal Diagnosis from Free Fetal DNA from Maternal Plasma
- FETAL THERAPY
  - Fetal Stem Cell Therapy
  - Fetal Gene Therapy
- CONCLUSION
SECTION 2: RBC DISORDERS AND ANEMIA IN NEWBORN
CHAPTER 9:Developmental Erythropoiesis
- INTRODUCTION
- BASICS OF ERYTHROPOIESIS
- GLOBIN LOCI
- EMBRYONIC DEVELOPMENT OF ERYTHROPOIESIS
- ERYTHROID CELL MATURATION
  - Gene Competition
- AUTONOMOUS SILENCING
  - PYR Complex: A Possible Switch Complex
- SEQUENCE OF ACTIVATION OF GLOBIN GENES
- FUTURE POSSIBILITIES
CHAPTER 10:Normal Hematological Values and Variation in Newborn Period with Special Reference to Hb and RBC Parameters
- INTRODUCTION
- ANTENATAL ERYTHROPOIESIS
- NORMAL HEMATOLOGICAL VALUES AND VARIATION IN NEWBORN PERIOD
- CONCLUSION
- KEY MESSAGE
CHAPTER 11:Effect of Nutritional Deficiency Anemia during Pregnancy on Fetus and Newborn
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY
- PHYSIOLOGICAL ANEMIA
- MATERNAL EFFECTS OF ANEMIA
- FETAL EFFECTS
- TREATMENT OF IRON DEFICIENCY ANEMIA
  - Erythropoietin
- FOLIC ACID DEFICIENCY ANEMIA
  - Diagnostic Criteria for Megaloblastic Anemia
- DIMORPHIC ANEMIA
- FUTURE PERSPECTIVE
- KEY POINTS
CHAPTER 12:Anemia of Prematurity
- INTRODUCTION
- ETIOPATHOGENESIS
- CLINICAL FEATURES
- INVESTIGATIONS
  - Complete Blood Count
- DIFFERENTIAL DIAGNOSIS
- MANAGEMENT
- OPTIMIZING NUTRITIONAL SUPPORT
  - Iron Therapy
CHAPTER 13:Clinical Aspect of Immune Hemolytic Disease of Newborn
- INTRODUCTION
- RH BLOOD GROUP SYSTEM AND RH ISOIMMUNIZATION
- ETIOPATHOGENESIS
- CLINICAL FEATURES
- DIAGNOSIS OF IMMUNE HEMOLYTIC DISEASE IN THE NEWBORN
- MANAGEMENT OF RH ISOIMMUNIZATION
- ABO BLOOD GROUP SYSTEM AND ABO HEMOLYTIC DISEASE
- CONCLUSION
CHAPTER 14:Laboratory Management of ABO and Rh Hemolytic Disease of the Fetus and Newborn
- INTRODUCTION
- PATHOPHYSIOLOGY OF HEMOLYTIC DISEASE OF THE NEWBORN
- ABO HEMOLYTIC DISEASE OF THE NEWBORN
  - Origin of ABO Antibodies
- INCIDENCE
- DIAGNOSIS
  - Serological Diagnosis
  - Hematological Changes
- RH HEMOLYTIC DISEASE OF THE FETUS AND NEWBORN
- MATERNAL LABORATORY INVESTIGATIONS
- SPECTROPHOTOMETRIC ANALYSIS OF AMNIOTIC FLUID
- INVESTIGATION OF FETUS
- CONCLUSION
- KEY MESSAGE
CHAPTER 15:Nonimmune Hemolytic Anemia
- INTRODUCTION
- CONFOUNDING FACTORS IN THE EVALUATION OF NEONATAL HEMOLYSIS
- EXTRINSIC CAUSES OF HEMOLYSIS IN NEONATES
- DISORDERS OF THE RBC MEMBRANE
  - Hereditary Spherocytosis
- ENZYME DEFICIENCIES
  - Glucose-6-phosphate Dehydrogenase Deficiency
  - Pyruvate Kinase Deficiency
- HEMOGLOBINOPATHIES IN THE NEONATE
- CONCLUSION
- KEY POINTS
CHAPTER 16:Inherited Bone Marrow Failure Syndromes
- INTRODUCTION
- FANCONI ANEMIA
- DYSKERATOSIS CONGENITA
- SEVERE CONGENITAL NEUTROPENIA
- THROMBOCYTOPENIA ABSENT RADII
CHAPTER 17:Polycythemia and Hyperviscosity Syndrome in Newborn
- INTRODUCTION
- INCIDENCE1-4,7,11-18,20
- PATHOPHYSIOLOGY3,8,9-21
- ETIOLOGY1,2-4,7-9,17-21
- CLINICAL FEATURES
- INVESTIGATIONS
  - Other Investigations
- MEDICAL MANAGEMENT OF POLYCYTHEMIA
- KEY POINTS
SECTION 3: COAGULATION DISORDERS IN NEWBORN
CHAPTER 18:Congenital Coagulation Disorders in the Neonate
- INTRODUCTION
- INHERITANCE PATTERNS
- CLINICAL PRESENTATION
- LABORATORY INVESTIGATIONS AND INTERPRETATION
- SPECIFIC COAGULATION FACTOR DEFICIENCIES
  - Hemophilia
- VON WILLEBRAND FACTOR DEFICIENCY
- RARE BLEEDING DISORDERS
- HEREDITARY DEFICIENCIES OF MULTIPLE COAGULATION FACTORS
  - Combined Factor V and Factor VIII Deficiency
  - Vitamin K-dependent Clotting Factors Deficiency
- DEFECTS IN THE FIBRINOLYTIC PATHWAY
- CONCLUSION
CHAPTER 19:Vitamin K Deficiency Bleeding
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY
- PATHOGENESIS
- CLINICAL FEATURES
- DIAGNOSIS
  - Differential Diagnosis
- THERAPY
  - Prevention
- RISKS AND DISADVANTAGES OF DIFFERENT FORMS OF VK PROPHYLAXIS
  - Intramuscular Vitamin K and the Risk of Cancer in Childhood
    - Theoretical Background
- CONCLUSION
- KEY MESSAGE
CHAPTER 20:Disseminated Intravascular Coagulation in the Neonatal Period
- INTRODUCTION
- ETIOLOGY
  - Sepsis
  - Hypoxic Ischemia
- PATHOGENESIS/PATHOPHYSIOLOGY
- CLINICAL PRESENTATION
- DIAGNOSIS
- MANAGEMENT
- OUTCOMES/PROGNOSTIC FACTORS
- CONCLUSION
- KEY POINTS
CHAPTER 21:Thrombophilia in Newborns
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY
  - Heritable Thrombophilia
  - Hereditary Prothrombotic Factors
- PATHOPHYSIOLOGY
- CLINICAL FEATURES
- DIAGNOSIS
  - Lab Diagnosis
  - Imaging
- MANAGEMENT
- CONCLUSION
SECTION 4: PLATELETS, PLATELET DISORDERS AND APPROACH TO BLEEDING IN NEWBORN
CHAPTER 22:Approach to Neonatal Thrombocytopenia
- INTRODUCTION
- INCIDENCE
- CAUSES OF NEONATAL THROMBOCYTOPENIA
- CONCLUSION
CHAPTER 23:Neonatal Thrombocytopenia: Syndromic Causes
- INTRODUCTION
- CAUSES OF SYNDROMIC THROMBOCYTOPENIA IN NEWBORN
- CONCLUSION
- KEY POINTS
CHAPTER 24:Qualitative Platelet Disorders
- INTRODUCTION
- PATHOPHYSIOLOGY
- ETIOLOGY
- CLINICAL FEATURES OF PLATELET FUNCTIONAL DEFECTS
- HEREDITARY PLATELET DYSFUNCTION DISORDERS
- ACQUIRED PLATELET FUNCTION DEFECTS
- INVESTIGATIONS
- RECOMMENDATIONS FOR SPECIMEN COLLECTION AND PROCESSING
- CHALLENGES IN DIAGNOSING PLATELET FUNCTION DISORDERS IN INFANTS
- TREATMENT OF QUALITATIVE PLATELET DEFECTS
  - Local Care
  - Treatment Modalities in Platelet Dysfunction
- CONCLUSION
CHAPTER 25:Approach to a Bleeding Neonate
- INTRODUCTION
- EPIDEMIOLOGY
- PATHOPHYSIOLOGY
- ETIOLOGY
  - Healthy Neonate
  - Sick Neonate
- CLINICAL PRESENTATION
- DIAGNOSIS OF BLEEDING IN A NEONATE
- RECENT DEVELOPMENT IN THE DIAGNOSTICS
- MANAGEMENT
- PROGNOSTIC FACTORS
- PREVENTION
- CONCLUSION
- KEY POINTS
SECTION 5: NEUTROPHIL DISORDERS
CHAPTER 26:Neutrophilia
- INTRODUCTION
- NEUTROPHIL COUNTS IN NEWBORN
- MECHANISM OF NEUTROPHILIA IN NEWBORNS
- FACTORS AFFECTING NEUTROPHIL COUNTS
- DISORDERS WITH NEUTROPHILIA
- CONCLUSION
- KEY MESSAGE
CHAPTER 27:Important Causes of Neutropenia Including Inherited Conditions: Diagnosis and Work-up
- INTRODUCTION
- DEFINITION AND CLASSIFICATION
- SYMPTOMS OF NEUTROPENIA
- NEUTROPENIA BY ETIOLOGY
- NEUTROPENIA ASSOCIATED WITH METABOLIC DISEASES
- NUTRITIONAL DEFICIENCIES
- NEUTROPENIA CAUSED BY EXTRINSIC FACTORS
  - Infection
    - Drug-induced Neutropenia
- IMMUNE NEUTROPENIA
- THERAPY FOR NEONATAL NEUTROPENIA
- CONCLUSIONS AND KEY POINTS
CHAPTER 28:Neutrophil Function Defects
- INTRODUCTION
- DISORDER OF ADHESION
  - Leukocyte Adhesion Defect
- DISORDERS OF CHEMOTAXIS
  - Enhanced Motile Response (Familial Mediterranean Fever)
  - Depressed Motile Response
- DISORDERS OF DEGRANULATION
  - Chédiak-Higashi Syndrome
  - Specific Granule Deficiency
- DISORDERS OF MICROBICIDAL METABOLISM
- APPROACH TO THE DIAGNOSIS OF NEUTROPHIL FUNCTION DEFECTS
CHAPTER 29:Management of Neutropenia and Infections
- INTRODUCTION
- MANAGEMENT OF NEUTROPENIA AND INFECTIONS
- CAUSES OF NEUTROPENIA
- CYCLIC NEUTROPENIA
- CLINICAL EVALUATION OF NEUTROPENIA IN NEONATES
- LABORATORY EVALUATION OF NEUTROPENIA IN NEONATES
- CLINICAL MANAGEMENT OF A NEONATE WITH NEUTROPENIA
- TREATMENT
- HOW TO USE RECOMBINANT G-CSF?
- PREVENTION
- CONCLUSION
- KEY POINTS
SECTION 6: FETAL AND NEONATAL MALIGNANCY
CHAPTER 30:Cancers in Infants
- INTRODUCTION
- SPECIAL FEATURES
- FETAL ORIGINS OF CANCER
  - Children at High Risk for Cancer
- EPIDEMIOLOGY
- CHALLENGES IN MANAGEMENT OF INFANTILE CANCERS
- PAIN ASSESSMENT AND MANAGEMENT
  - Vaccination in Children with Cancer
- COMMON HEMATOLYMPHOID AND SOLID TUMORS IN INFANTS
- NEUROBLASTOMA
  - Stage 4-Special
  - Spontaneous Regression
- CLINICAL FEATURES
- RISK STRATIFICATION
- RISK-BASED TREATMENT
  - Treatment of Stage 4S Tumors
- BRAIN TUMORS
  - Clinical Features
  - Low-grade Gliomas
- EPENDYMOMA
- MEDULLOBLASTOMA
- ATYPICAL TERATOID OR RHABDOID TUMOR
- RETINOBLASTOMA
- SCREENING FOR CANCERS IN INFANTS: IS THERE ANY ROLE?
- BALANCING CURE AND QUALITY OF LIFE
- CONCLUSION AND KEY POINTS
CHAPTER 31:Neonatal Leukemia
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- CLINICAL FEATURES
- INVESTIGATIONS
- DIFFERENTIAL DIAGNOSES
- MANAGEMENT AND OUTCOMES FOR MAJOR SUBTYPES OF NEONATAL LEUKEMIA
- CONCLUSION
- KEY POINTS
CHAPTER 32:Neonatal Liver Tumor
- INTRODUCTION
- EPIDEMIOLOGY
- BENIGN NEONATAL LIVER TUMORS
- INFANTILE HEPATIC HEMANGIOMA
- MALIGNANT NEONATAL LIVER TUMORS
- METASTATIC LIVER LESION
  - Neuroblastoma
- RECENT ADVANCES
- INDIAN DATA
  - Benign Liver Tumors
  - Malignant Liver Tumors
- CONCLUSION
- KEY POINTS
CHAPTER 33:Neuroblastoma
- INTRODUCTION
- EPIDEMIOLOGY
- PATHOGENESIS
- PLOIDY (TUMOR CELL DNA CONTENT)
- FAMILIAL NEUROBLASTOMA AND GENETIC SUSCEPTIBILITY
- PATHOLOGY
- CLINICAL PRESENTATION
  - Staging
- PROGNOSTIC FACTORS
- DIAGNOSIS
- MANAGEMENT
- SCREENING
- KEY POINTS
CHAPTER 34:Renal Tumors in Neonates
- INTRODUCTION
- OVERVIEW OF THE COMMON RENAL TUMORS
- MESOBLASTIC NEPHROMA
  - Histological Classification
- WILMS’ TUMOR
  - Treatment
- MALIGNANT RHABDOID TUMOR OF THE KIDNEY
- CLEAR CELL SARCOMA OF THE KIDNEY
- OSSIFYING RENAL TUMOR OF INFANCY
- NEPHROBLASTOMATOSIS
- MISCELLANEOUS RENAL TUMORS
- CONCLUSION
- KEY POINTS
CHAPTER 35:Neonatal Soft Tissue Sarcomas
- INTRODUCTION
- APPROACH TO A NEONATE WITH SOFT TISSUE SWELLING
- COMMON SOFT TISSUE NEOPLASMS
- KEY MESSAGE
- CONCLUSION
CHAPTER 36:Fetal and Neonatal Germ Cell Tumors
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- CLINICAL PRESENTATION
- HISTOLOGY
  - Fetus-in-Fetu
- DIAGNOSIS AND WORKUP IN FETAL AND NEONATAL GERM CELL TUMORS
- MANAGEMENT OF FETAL AND NEONATAL GERM CELL TUMORS
- OUTCOMES AND PROGNOSTIC FACTORS
- LATE EFFECTS OF TREATMENT AND FOLLOW-UP
- FUTURE DIRECTIONS
- KEY POINTS
CHAPTER 37:Retinoblastoma and its Prenatal Screening
- INTRODUCTION
- INHERITANCE PATTERN
- CLINICAL FEATURES
- CONCLUSION
CHAPTER 38:Pharmacology of Anticancer Drugs in Neonate
- INTRODUCTION
- ABSORPTION
- DISTRIBUTION
- METABOLISM
- RENAL EXCRETION
- CONCLUSION
- KEY MESSAGE
CHAPTER 39:Challenges in Neonatal Malignancies
- INTRODUCTION
- EPIDEMIOLOGY
- CHALLENGES IN NEONATAL MALIGNANCIES
- WHICH TUMORS TO TREAT?
- CHALLENGES IN TREATMENT
- PROBLEMS SPECIFIC TO DEVELOPING COUNTRIES
  - Bigger Public Health Issues
- LACK OF ADEQUATE EXPERTISE, EQUIPMENT AND INFRASTRUCTURE
  - Treatment Refusal and Abandonment
- CONCLUSION
- KEY MESSAGE
SECTION 7: BLOOD TRANSFUSION (COMPONENT THERAPY) AND SUPPORTIVE THERAPY
CHAPTER 40:Cellular Blood Components in Neonatal Practice
- INTRODUCTION
- VARIOUS COMPONENTS OF BLOOD
- WHOLE BLOOD TRANSFUSION
- PACKED RED BLOOD TRANSFUSIONS IN NEONATES
  - Indications for Packed Red Blood Cell Transfusion
- EVIDENCE FOR THRESHOLD OF TRANSFUSION
  - Prerequisite and Dose of Transfusion
    - Age of Blood to be Used
  - Granulocyte Transfusion
- INDICATIONS
- DOSE AND DURATION OF THERAPY
- PREPARATION
- EVIDENCE
  - Platelet Count versus Mass
- TYPES OF PLATELETS AVAILABLE
- SIDE EFFECTS
  - Concerns of CMV Infection
  - Transfusion-associated Graft versus Host Disease
- INDICATIONS OF IRRADIATED CELLULAR PRODUCTS
- FUTURE DIRECTIONS
- KEY POINTS
CHAPTER 41:Plasma and its Derivatives
- INTRODUCTION
- COAGULATION SYSTEM IN NEONATES
- PLASMA AND ITS DERIVATIVES
  - Fresh Frozen Plasma
  - Cryoprecipitate
- PLASMA TRANSFUSION GUIDELINES IN NEONATES
  - Clinical Use of Fresh Frozen Plasma in Neonates10
    - Use of Fresh Frozen Plasma Indicated
    - Use of Fresh Frozen Plasma Not Indicated
  - Cryoprecipitate
    - Use of Cryoprecipitate in Neonates
- ADVERSE EFFECTS WITH PLASMA TRANSFUSION
- CONCLUSION
- KEY POINTS
CHAPTER 42:Technical Aspects of Blood and Blood Components Transfusion including Leukodepletion and Irradiation
- INTRODUCTION
- SOME TECHNICAL ASPECTS ABOUT THE ADMINISTRATION OF BLOOD AND BLOOD COMPONENTS
- LEUKOCYTE DEPLETION AND GAMMA IRRADIATION OF BLOOD COMPONENTS
  - Leukocyte Depletion of Cellular Blood Components
  - Gamma Irradiation of Blood Components
- RISK FACTORS ASSOCIATED WITH OCCURRENCE OF TRANSFUSION ASSOCIATED GRAFT-VERSUS-HOST DISEASE
- INDICATIONS FOR IRRADIATION OF BLOOD AND BLOOD COMPONENTS
- BLOOD AND BLOOD COMPONENTS TO BE IRRADIATED
  - Irradiation and WBC Reduction
  - Storage of Red Cells after Irradiation
- DOSIMETRY OF BLOOD IRRADIATOR (FIGS 42.1 TO 42.4)
- CONCLUSION
- KEY POINTS
- RECOMMENDED FURTHER READING
CHAPTER 43:Risk of Transfusion in Fetus and Neonate
- INTRODUCTION
- INTRAUTERINE TRANSFUSION
- EVALUATION OF FETAL ANEMIA
- MANAGEMENT OF FETAL ANEMIA
  - Preparation of Packed Red Blood Cells for Intrauterine Transfusion
- RISK OF INTRAUTERINE TRANSFUSION
- INTRAUTERINE PLATELET TRANSFUSION
  - Preparation of Platelet for Intrauterine Platelet Transfusion
  - Risk of Intrauterine Platelet Transfusion
- ADVERSE EFFECTS OF TRANSFUSION IN NEONATES
  - Viral Infections
  - Alloimmunization
- TRANSFUSION-ASSOCIATED GRAFT VERSUS HOST DISEASE
- CONCLUSION
- KEY POINTS
CHAPTER 44:Hematological Growth Factors as Supportive Therapy
- INTRODUCTION
- HISTORY
- GRANULOCYTE-COLONY STIMULATING FACTOR OR GRANULOCYTE-MACROPHAGE COLONY-STIMULATING FACTOR
  - Myelopoiesis in Neonates
  - Fetal and Neonatal Myeloid Series: Differences from Adult Myeloid Series
- ROLE OF G-CSF AND GM-CSF IN NEONATAL SEPSIS
  - Preclinical in ivo Effects of Myelopoietic Growth Factors in Animal Trials
- CLINICAL TRIALS OF G-CSF
- CLINICAL TRIAL OF GM-CSF
- G-CSF OR GM-CSF: WHICH ONE HAS BETTER EFFECT IN NEONATE?
- ROLE OF G-CSF OR GM-CSF IN OTHER NEUTROPENIAS
- FUTURE PROPOSED USES OF G-CSF OR GM-CSF IN NEONATAL INTENSIVE CARE UNIT
  - Neuroprotection
  - Prevention of Feed Intolerance
- SIDE EFFECTS OF G-CSF OR GM-CSF
- ERYTHROPOIETIN AND ERYTHROPOIETIN STIMULATING AGENTS
  - Fetal and Neonatal Erythropoiesis
- ANEMIA OF PREMATURITY
- COMPLICATIONS
- DOSE
- USE IN RHESUS SENSITIZATION
- USE IN JEHOVAH'S WITNESS
- OTHER USES: NEUROPROTECTION
  - Necrotizing Enterocolitis
  - Darbepoetin
- CONCLUSION
- KEY POINTS
SECTION 8: IMMUNOLOGICAL DISORDERS
CHAPTER 45:Introduction to Immunology
- THE IMMUNE SYSTEM
- COMPONENTS OF THE INNATE IMMUNE SYSTEM
- NUCLEOTIDE OLIGOMERIZATION DOMAIN RECEPTORS/NUCLEOTIDE OLIGOMERIZATION DOMAIN LEUCINE-RICH REPEAT CONTAINING RECEPTORS
  - Inflammasome
  - Activators of NLRP3 Inflammasome
- ADAPTIVE IMMUNE SYSTEM
- KEY POINTS
- CONCLUSION
CHAPTER 46:Fetal and Neonatal Immunity
- INTRODUCTION
- FETAL IMMUNITY
- DEVELOPMENT OF THE IMMUNE SYSTEM
- NEONATAL IMMUNITY
- ADAPTIVE IMMUNE SYSTEM
  - T- and B-Cell Development
    - T-Cells
    - B-Cells
- ORGANS OF THE IMMUNE SYSTEM
- NEONATAL HUMORAL RESPONSES
- NEONATAL CELL-MEDIATED RESPONSES
- PASSIVE IMMUNITY IN NEONATES
- TRANSPLACENTAL TRANSFER
- COLOSTRUM AND BREAST MILK
- DELETERIOUS EFFECTS OF MATERNAL ANTIBODIES
- CONCLUSION
CHAPTER 47:Infections in Neonatal Period: Primary Immunodeficiency Perspective
- INTRODUCTION
- NEONATAL SEPSIS
- EPIDEMIOLOGY
- EARLY ONSET NEONATAL SEPSIS
- LATE ONSET SEPSIS
- CLINICAL FEATURES
- INVESTIGATIONS
- MANAGEMENT
- PREVENTION OF LATE ONSET SEPSIS
- NEONATAL IMMUNE SYSTEM AND PREDISPOSITION TO INFECTIONS
  - Approach to Diagnosis of Primary Immunodeficiency in the Newborn Period
- UNCOMMON INFECTIONS IN NEONATE AND ROLE OF PRIMARY IMMUNODEFICIENCY
  - Fungal Infections in Neonate
  - Viral Infections in Neonate
- CONCLUSION
- KEY POINTS
CHAPTER 48:Approach to Newborns with Immunodeficiency
- INTRODUCTION
- PRIMARY IMMUNODEFICIENCY DISORDERS
- ADVANCED TESTS FOR SPECIFIC DISORDERS
- PREVENTION
- CONCLUSION
CHAPTER 49:Neutrophil Functions and Disorders of Neutrophils in Newborns
- INTRODUCTION
- NORMAL DEVELOPMENT AND FUNCTION OF NEUTROPHILS
  - Normal Neutrophil Counts in Term and Preterm Neonates
- DISORDERS IN NEUTROPHILS
- CONCLUSION
CHAPTER 50:Combined T- and B-Cell Defects
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOPHYSIOLOGY
- TYPES OF COMBINED T- AND B-CELLS DISORDERS (CLASSIFICATION)
- OTHER IMMUNODEFICIENCY DISORDERS
- CLINICAL PRESENTATION
- DIAGNOSIS
  - Laboratory Parameters
- TREATMENT
- PROGNOSIS
- NEONATAL SCREENING
- CONCLUSION
CHAPTER 51:Primary Antibody Deficiencies
- INTRODUCTION
- X-LINKED AGAMMAGLOBULINEMIA
- CLINICAL MANIFESTATIONS
- LABORATORY DIAGNOSIS
- TREATMENT AND PROGNOSIS
- AUTOSOMAL RECESSIVE HYPOGAMMAGLOBULINEMIA
- COMMON VARIABLE IMMUNODEFICIENCY
- CLINICAL MANIFESTATIONS
- LABORATORY DIAGNOSIS
- MANAGEMENT
- SELECTIVE IMMUNOGLOBULIN A DEFICIENCY
- TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY
  - Immunoglobulin G Subclass Deficiency
- SPECIFIC ANTIBODY DEFICIENCY
- CONCLUSION
- KEY MESSAGE
CHAPTER 52:Combined Immunodeficiencies with Associated or Syndromic Features
- INTRODUCTION
- CONGENITAL THROMBOCYTOPENIAS
- HYPERIMMUNOGLOBULIN E SYNDROMES
- DEFECTS OF VITAMIN B12 AND FOLATE METABOLISM
- CONCLUSION
- KEY POINTS
CHAPTER 53:Immune Dysregulation Syndromes
- INTRODUCTION
- INTRODUCTION
- HISTORY
- EPIDEMIOLOGY2,3
- PATHOPHYSIOLOGY4-25
  - Autoimmune and Autoinflammatory Diseases17,18
  - Malignancy7,9
  - Inborn Errors of Metabolism19-21
  - Mechanism of Immune Dysregulation22-25
    - Defective Cytotoxic T-cell and Natural Killer Cell Functions
    - Failure of Downregulation of the Immune Response
  - Acquired Hemophagocytic Lymphohistiocytosis
  - Hypercytokinemia: The Ultimate Killer
- GENETICS OF HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS26-41
  - Primary Immune Deficiency Syndromes with Hemophagocytic Lymphohistiocytosis
    - X-linked Lymphoproliferative Syndromes36-38
    - Hemophagocytic Lymphohistiocytosis Associated with Pigmentary Dilution 39-41
- CLINICAL PRESENTATION OF HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS42-46
  - Laboratory Findings and Other Investigations47-57
    - Other Laboratory Techniques
- DIAGNOSIS
  - Diagnostic Dilemmas in Hemophagocytic Lymphohistiocytosis
  - Special Considerations in Hemophagocytic Lymphohistiocytosis
- TREATMENT OF HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS67-74
  - Principles of Treatment
  - Drugs Used to Suppress the Inflammation
  - Hitting the Trigger
  - Hemophagocytic Lymphohistiocytosis (HLH)-94 and HLH-2004 Protocols
  - Central Nervous System Disease
  - Continuation Therapy
  - Refractory Disease and Reactivation
  - Reactivation
- AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
- HISTORY
- PATHOPHYSIOLOGY75-81
- CLINICAL PRESENTATION82-88
- LABORATORY INVESTIGATIONS89-93
- DIAGNOSIS94
  - Revised Diagnostic Criteria for ALPS
    - Required
    - Accessory
- SECONDARY
- CLASSIFICATION
- DIFFERENTIAL DIAGNOSIS
- PRINCIPLES OF TREATMENT95-112
  - Lymphoproliferation and Splenomegaly
- ITK DEFICIENCY113-119
  - ITCH Deficiency120-123
- APECED124,125
- IPEX126-130
  - Aicardi-Goutières Syndrome131-141
- CONCLUSION
CHAPTER 54:Complement Disorders
- INTRODUCTION
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- INVESTIGATIONS
  - Indications of Screening
    - CH50
    - AH50
  - Measurement of Specific Components
- DIFFERENTIAL DIAGNOSES
- MANAGEMENT
- CONCLUSION
CHAPTER 55:Autoinflammatory Syndromes
- INTRODUCTION
- EPIDEMIOLOGY
- PATHOGENESIS
- CLASSIC AUTOINFLAMMATORY SYNDROMES1,5
- NEWER SYNDROMES
- TREATMENT
- CONCLUSION
- KEY POINTS
CHAPTER 56:Management of Specific Immunodeficiencies
- INTRODUCTION
- IMMUNE SYSTEM OF HUMAN BODY
- CLASSIFICATION OF PRIMARY IMMUNODEFICIENCY2,3
- IMPORTANCE OF EARLY DIAGNOSIS
  - Warning Signs
- MANAGEMENT OF SPECIFIC PRIMARY IMMUNODEFICIENCIES
- VACCINATION IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES
- CONCLUSION
- KEY POINTS
CHAPTER 57:Neonatal Screening and Prenatal Diagnosis of Primary Immunodeficiency Disorders
- INTRODUCTION
- WHY SHOULD WE INCLUDE PRIMARY IMMUNODEFICIENCY DISORDERS IN NBS?
- NEED FOR NEWBORN SCREENING FOR SCID AND OTHER T-CELL IMMUNODEFICIENCIES
- TREC ASSAY AND ITS UTILITY AS A SCREENING TEST FOR SCID
  - International Status
  - Interpreting TREC Results
- RECENT ADVANCEMENT
  - Triplex Real-time PCR Protocol
  - Management of Patients Detected with TRECs/KRECs Lower than the Normal Cut-off
- NATIONAL STATUS
- PRENATAL DIAGNOSIS
  - Modes of Inheritance of Primary Immunodeficiency Disorders
  - Prenatal Diagnosis Techniques
- ADVANCES IN PRENATAL DIAGNOSIS TECHNIQUES
- CONCLUSION
- KEY MESSAGE

INDEX

ABCDEFGHIJKLMNOPQRSTUVWXYZ

Page numbers followed by f refer to figure, fc refer to flow chart and t refer to table

ABO

antibodies 81

blood group system 78

hemolytic disease 78, 81

Absolute neutrophil count 183, 188, 210, 302, 303, 347

Acid-base derangements 297

Acidosis 177

Acne 429, 430, 432

Acquired immune deficiency syndrome 290

Acquired platelet dysfunction, causes of 167

Activated partial thromboplastin time 9, 120, 121, 121fc, 137, 174, 176, 177, 283

Adaptive immune system 318, 321, 330

Addison's disease 409

Adenitis 430

Adenoma 230

Adenosine deaminase 342, 356–358

deficiency 358, 358fc, 361, 431

enzyme replacement therapy 363

Adenosine diphosphate 20, 165, 169

receptor defects 166

Adenosine monophosphate, cyclic 16

Adenosine triphosphate 67, 167

Adhesion molecule deficiency 185

Afibrinogenemia 175, 285

Agammaglobulinemia 208, 367, 437

X-linked 345, 366, 367, 369f, 370f, 372f

Aicardi-Goutières syndrome 409

Albinism-neutropenia syndrome 191

Alkaline phosphate 185

Allergic reactions 296

Alloimmune neonatal neutropenia 189, 349

Alpha-1 acid glycoprotein 268

Alpha-1 anti-trypsin deficiency 128

Alpha-2 antiplasmin deficiency 175, 177

Alpha-fetoprotein 379

value references 233t

serum 257

Alpha-gamma storage pool deficiency 175

Alpha-granule disorders 161, 165

Alpha-thalassemia 25, 35, 97, 226

Alport syndrome 163

Altman classification 256f

Alveolar rhabdomyosarcoma 252

congenital 272

Ambiguous lineage, acute leukemia of 226, 227

Amegakaryocytic thrombocytopenia, congenital 108, 157, 159, 160

American Academy of Pediatrics 128

American Joint Committee on Cancer 263

Amniocentesis 445

Amniotic fluid 84

analysis 77

spectrophotometric analysis of 84

Anaplastic large-cell lymphoma 390

Anaplastic lymphoma kinase 239

Anemia 63, 70, 71, 95, 211, 278, 304

aplastic 104

chronic 278

congenital dyserythropoietic 25, 226

dimorphic 67

hemolytic 63, 91

megaloblastic 67

microangiopathic 90, 90f

nonimmune hemolytic 87

nutritional 63, 66fc, 68

pernicious 409

prevention of 68

Angioedema, hereditary 423

Angiosarcoma 230, 234

Angiotensin-converting enzyme inhibitors 288

Aniridia syndrome 245

Antibody

antinuclear 372, 405

deficient disorders 366, 367t

Anticoagulation systems 142f

Antiglobin test 78

Anti-neutrophil antibody-mediated disorders 211

Antiphospholipid syndrome 143, 149

Antithrombin 138, 143

deficiency 142

Antithrombotic therapy 149

Aorta-gonad-mesonephros region 13

APGAR score 65

Apoptosis, X-linked inhibitor of 398

Apoptotic pathways 405f

Arachidonic acid 169

Artemis deficiency 358

Arterial blood gases 113

Artery, umbilical 30

Arthralgia 434

Arthritis 432

pyogenic 429, 430

Arthrogryposis 161

renal dysfunction 165, 166

Ataxia telangiectasia 360, 376, 377, 379, 436

Atresia, esophageal 255

Atypical hemolytic uremic syndrome 418, 421, 425f

Autoimmune

lymphoproliferative syndrome 191, 209, 388, 404, 406

polyendocrinopathy syndrome 409, 409t

Autoimmunity 372, 378, 388

Autoinflammatory

diseases 390, 429f

activity index 434, 434t

disorders 341, 436

syndrome 428–431, 433t, 435t

Autosomal dominant 185

inheritance 444

thrombocytopenia 175

Autosomal recessive 389

hypogammaglobulinemia 371

inheritance 444

Bacillus calmette-guérin 250, 361, 440

Bacterial sepsis, severe 226

Bacteroides 89

Barium sulphate adsorbed plasma 121

Bart's disease 45

Barth syndrome 208, 211

B-cell 331

activation 323

evaluation 362

Beckwith-Wiedemann syndrome 245

Behçet disease 361

Bernard-Soulier syndrome 20f, 157, 159, 160, 163–175, 177

Bicytopenia 209

Bile duct atresia 129

Biliary hypoplasia 128

Bland spindle cells 245

Blau syndrome 429, 430

Bleeding 176, 200, 377

disorders 122

neonate 178fc

tendency 200

time 167, 176

types of 163

Blindness, congenital 45

Blood

components, gamma irradiation of 288

counts, normal 4

group incompatibilities 226

irradiator, dosimetry of 290

loss 277, 278

products 363

sugar 113

transfusion 72

therapy 277

warming of 287

Bloom syndrome 360, 377, 379

Blueberry muffin appearance 226f

Bone marrow 3, 14, 331, 354f

examination 395

failure 157, 348

syndromes 211

hematopoiesis 4

juvenile 5

hypoplasia 177

infiltration 194

Brain

abscess 343f

gamma-aminobutyric acid 65

tumor 217, 220

Bronchial-associated lymphoid tissue 331

Bronchiectasis, management of 438

Bruch's membrane 264

Bruton tyrosine kinase 208, 370f

Buckley disease 438

Burkholderia cepacia 201, 342, 439

Byler disease 129

Calcium channels deficiency 360, 361, 383

Campylobacter jejuni 369

Cancer 217

fetal origins of 217

Candida albicans 338

Candida parapsilosis 338

Carboxyhemoglobin 88

Carcinoma 272

hepatocellular 230

Cartilage hair hypoplasia 208, 211, 348, 360, 377, 380, 442

Cell lines, maturation of 50f

Cellular blood components, leukocyte depletion of 288

Central nervous system 71, 103, 113, 157, 218, 225, 244, 270, 393, 402

Central venous catheter 143

occlusion, prophylaxis of 148

Cephalhematoma 119

Cerebellum 65

Cerebral

artery, middle 26, 27, 29, 30, 294

cortex 65

Cernunnos deficiency 359, 361

Charge syndrome 377, 380, 442

Chédiak-Higashi syndrome 161, 164, 165, 191, 199, 200, 200f, 204, 208, 342, 350, 351, 394f, 395f

Chemotaxis, disorders of 199

Chemotherapy 259

Chickenpox 363

Cholestasis syndrome 161

Chorioamnionitis 295

Chorioangioma, placental 25, 294

Choriocarcinoma 230, 257

Chorionic villus sampling 34, 34f, 444, 445

Circle of Willis 26

Citrate phosphate dextrose 295

Classic autoinflammatory syndromes 429

Clear cell sarcoma 244, 246, 252

Clostridium perfringens 89

Clostridium welchii 89

Coagulation tests 137

Cold autoinflammatory, familial 433

Collagen adenosine diphosphate 168

Collagen receptor

defects 166

deficiency 175

Colostrum 332

Combined T-cell and B-cell

defects 354

immunodeficiencies 341, 342, 440

Comèl-Netherton syndrome 377, 383

Complement system 328, 415t

Complete blood cell count 70, 210

Complex regional multifocal osteomyelitis 433

Congenital high airway obstruction syndrome 258

Connective tissue disorders 175

Coombs test 29fc, 77, 78

Cordocentesis 30, 445

Corpus striatum 65

Corticosteroid therapy 185

Corticotropin-releasing hormone 64

C-reactive protein 210

Creutzfeldt-Jakob disease 296

Crigler-Najjar syndrome 45

Cryopyrin-associated periodic syndromes 430, 433, 435

Cryptosporidium 361

Cytokine 14

Cytomegalovirus 70, 77, 155, 211, 226, 295, 296, 339, 361, 384, 390

infection 348

Dandy-Walker malformation 255

Dendritic cells 49, 50, 318, 322

Dense granule disorders 161, 165

Dense tubular system 20

Denys-Drash syndrome 245

Deoxyadenosine triphosphate 358

Deoxyribonucleic acid 369, 443

Dermatofibrosarcoma 252

Desmopressin 122, 172

Diabetes mellitus 167, 176

Diamond-Blackfan anemia 102, 108, 226

Dianzani autoimmune lymphoproliferative disease 406

Diaphragmatic hernia, congenital 258

Diarrhea 434

Diencephalic syndrome 221f

Diethylaminoethyl column chromatography 82

Diffuse infantile hepatic hemangioma 231

DiGeorge anomaly 377, 436

DiGeorge syndrome 281, 380, 442

Dihydrorhodamine 202, 204

dye oxidation 351

Disseminated intravascular coagulation 119, 135, 144, 154–156, 167, 174, 176–178, 284

Dithiothreitol method 82

Double volume exchange transfusion 139

Down syndrome 161, 185, 217, 219, 225–227

Duodenal atresia 103

Dysfibrinogenemia 142, 175, 285

Dyskeratosis congenita 106, 383

Dysplasia, immune-osseous 360, 377, 380

Dysproteinemia 167

Dysprothrombinemia 123, 175

Ectodermal dystrophy 409

Eczema 378

Edward syndrome 161

Ehlers-Danlos syndrome 163, 175

Elevated liver transaminases 396

Elliptocytosis, hereditary 93

Ellis-Van Creveld syndromes 225

Embryonic arterial cell clusters 3, 4

regulation of 5

Endocrine pancreas 409

Endomitosis 22

Enterobacter aerogenes 419

Enzymatic pathways, disorders of 91

Enzyme-linked immunosorbent assay 296, 382

Ependymoma 222

Epinephrine 185

Epithelial membrane antigen 252

Epsilon aminocaproic acid 172

Epstein's syndromes 159

Epstein-Barr virus 360, 390, 393, 399

Erysipeloid eruption 432

Erythroblast transformation 23

Erythrocyte

sedimentation rate 202, 337

transfusion 185

Erythroid cell maturation 52

Erythropoiesis 6, 6fc, 49, 304f

antenatal 58

developmental 49

embryonic development of 49

primitive 5

transcriptional regulation of 51

Erythropoietin 23, 49, 59, 66, 70, 91, 153, 298, 303, 304, 307, 307t

stimulating agents 303

Escherichia coli 89, 190, 210, 328, 333, 336, 347, 349, 419

Ethylenediaminetetraacetic acid 28, 30

Ewing's protocol 248

Ewing's sarcoma 250

Extracorporeal membrane oxygenation 167, 277

Extraembryonic yolk sac 3

Facial anomalies 377, 379

Fanconi anemia 102, 103f, 103t, 104f, 104t, 105f, 158, 159, 161, 175

Febrile nonhemolytic transfusion reactions 288

Fechtner's syndromes 159

Ferrous fumarate 67

Ferrous gluconate 67

Ferrous glycine sulfate 67

Ferrous succinate 67

Fetal

albumin 268

anemia 25, 26, 27, 30fc, 31, 294

causes of 25, 294

management of 294

blood

sampling 77, 84, 445

typing 76

bone marrow hematopoiesis, regulation of 5

bradycardia, transient 295

effects 64

erythropoiesis 303

gene therapy 45

germ cell tumors 254

hematological disorders 43

hematopoiesis 3, 4t, 6

hemoglobin 4, 6, 25, 26, 49, 58, 109

hereditary persistence of 39

hydrops 259

immunity 325

kell blood group 44

liver 3

myeloid series 299

stem cell therapy 44

therapy 44, 77

umbilical cord 29

Fetomaternal transfusion 59

Fever 394, 403, 431, 434

Fibrin degradation products 8, 135, 180

Fibrinogen 137, 142, 176

Fibrinolytic pathway 125

Fibronectins 333

Fibrosarcoma 252, 253

infantile 252

Fibrosis, cystic 128

Fils syndrome 377

Fistula, arteriovenous 25

Flavonoids 225

Flow cytometry 168, 397, 445

Fluorescent in situ hybridization 226

Focal infantile hepatic hemangioma 230, 231f

Focal nodular hyperplasia 230, 232

Folate

deficiencies 68

metabolism 377, 383

Folic acid deficiency 67

Free fatty acids 268

Fresh frozen plasma 137, 138, 210, 283, 284, 296

use of 284

Fungal

infections 338

sepsis 211

Furazolidone 95

Gamma granule deficiency 175

Gamma-glutamyl carboxylase 124

Gamma-thalassemia 97

Ganglioneuroblastoma 239, 241

Ganglioneuroma 239, 241

Ganulocytes, development of 7fc

Gaslini diagnostic score 432

Gastric

acidity 328

mucosa 409

secretions 328

Gastrointestinal

syndromes, acquired 217

tract 327, 409

Gaucher-type histiocytes 185

Gene

competition 54

therapy 363

Genetics 201

disorders 112

testing 38, 265

Germ cell tumor 254, 258

abdominal 256, 259

fetal 258

intracranial 256

mediastinal 256

neonatal 258

Germinoma 257

Giant

cytoplasmic granules 200f

platelets 156

Giardia lamblia 369

Glanzmann's thrombasthenia 163, 164, 169, 175

Gliomas, low-grade 222

Globin loci 49

Glomerulonephritis, membranoproliferative 418

Glucose 6-phosphate dehydrogenase

classes of 94t

deficiency 25, 91, 94, 203

Glucose phosphate isomerase deficiency 96

Glutathione

metabolism, disorders of 96

synthetase deficiency 350

Glycogen storage disease 45, 208, 211, 302

Glycolipids 333

Glycoprotein 169, 298, 333

Gonadal germ cell tumor 256

Graft-versus-host disease 288, 325, 361

transfusion associated 281, 296

Granule deficiency 201f

Granulocyte 13, 6fc

colony stimulating factor 14, 106, 185, 189, 211, 298, 303, 334, 347

role of 350

macrophage colony stimulating factor 14, 298, 319, 334

monocyte colony stimulating factor 185, 347

myeloid progenitor 50

transfusion 203, 279

Granulomatous disease, chronic 16, 201, 204, 338, 350, 439, 440, 444

Granulopoiesis 13, 13fc

Graves’ disease 334

Gray platelet syndrome 157, 159, 163, 165

Griscelli disease 208

Griscelli syndrome 343f, 394, 395f

Haemophilus influenzae 333, 336, 366, 369, 373, 374, 381, 420

Hamartoma, mesenchymal 230, 232, 232f

Head and neck

germ cell tumors 255

squamous cell carcinoma 104

Headache 434

Heart 103

disease, congenital 144

Heat instability test 99f

Heinz bodies 91, 99f

Hemangioblasts 21

Hemangioendothelioma, infantile hepatic 230

Hemangioma 25, 159

infantile 230

Hematological disorders, inherited 38

Hematopoiesis 3, 50

embryonic 50

physiology of 3

primitive 50

regulation of 4

Hematopoietic stem cell 3, 4, 6, 21, 44, 49, 50f, 326

transplantation 173, 190, 362, 363, 441

Hemoglobin 4, 7, 36, 59, 59t, 88, 106

electrophoresis, role of 35

Hemolysis 87

causes of 87, 88

intrinsic causes of 87, 91

Hemolytic

anemia, autoimmune 361

disease 27, 79, 81, 177, 294, 348

uremic syndrome, complement-mediated 424

Hemophagocytes 396f

Hemophagocytic lymphohistiocytosis

familial 342, 344, 345, 389, 398, 398fc, 439

genetics of 392

primary 391f

revised 399t

secondary 390t

treatment of 400

Hemophagocytosis 404

Hemophilia 122

A 45, 119

B 45

C 124, 175

Hemorrhage

antenatal 176

fetomaternal 25, 31, 294

gastrointestinal 176

intracranial 120, 130, 176

intrathoracic 25

intraventricular 176, 305

periventricular 284

pulmonary 176, 177

transplacental 83

Hemorrhagic disease 120, 127

Hemostasis 8

developmental 8

physiology of 8

primary 9, 175

secondary 9

Henoch-Schönlein purpura 418

Heparin 138, 146

unfractionated 146, 147t, 148

Hepatic hemangioma, asymptomatic focal 231

Hepatic veno-occlusive disease 377, 384

Hepatitis 128

autoimmune 409

B 296

C 296

viruses 296

Hepatoblastoma 230, 232, 233f, 272

Hereditary angioedema 420, 422

Hermansky-Pudlak syndrome 161, 164, 165

Herpes 226

simplex virus 339, 382, 390

Hexokinase deficiency 96

High performance liquid chromatography 33, 41, 97

Hip, congenital dislocation of 255

Histiocytic disorders 226

Hodgkin's disease 272

Hodgkin's lymphoma 404

Homovanillic acid 242

Human

chorionic gonadotropin 258

immunodeficiency virus 63, 226, 290, 296, 332, 390

leukocyte antigen 43, 106, 164, 281, 325, 359, 438

megakaryocyte growth 24

papillomavirus 106, 382

platelet antigen 179

protein C 139

T-cell lymphotropic virus 359

Hyperbilirubinemia 88, 113, 392

Hyperimmunoglobulin

D syndrome 429, 433, 435

E syndromes 381, 438

M syndrome 438

Hyperkalemia 296, 297

Hyperleukocytosis 226

Hyperlipidemia 396

Hypertension 176

pregnancy-induced 208, 348

Hypertriglyceridemia 403

Hyperviscosity syndrome 111, 113

Hypofibrinogenemia 177, 403

Hypogammaglobulinemia 209

transient 367, 373

Hypoglycemia 296, 297

Hypoparathyroidism 409

Hypoprothrombinemia 123

Hypospadias reflux 255

Hypothalamus 65

Hypothryoidism 409

Hypoxia 96, 155, 177

Hypoxic ischemic encephalopathy 309

Ichthyosiform 432

Idiopathic dense-granule

deficiency 164

disorder 165

Idiopathic thrombocytopenic purpura 23, 155

Immune

cells 327

deficiency syndromes 390

dysregulation 388

diseases of 341, 344

syndromes 387, 387t

hemolytic disease 74, 76

neutropenia 193

system 317, 318

aberrations of 317

development of 326, 326t

function of 317

organs of 318, 331

thrombocytopenia 371

Immunity

cell-mediated 326

cellular 344

In vitro fertilization 35, 177

Infantile cancers, management of 218

Infections 14, 89, 144, 176, 177, 192, 377

congenital 155

prevention of 363

Innate immune system 318, 319, 327

role of 428

Innate lymphoid cells 319f

development of 319fc

International Fanconi Anemia Registry 102, 104

International Neuroblastoma 240

Staging System 220, 240, 240t

International Society of Pediatric Oncology Liver Tumor Study Group 233

International Union of Immunological Societies 341, 377, 389

Interstitial lung disease 431

Intestinal atresia, multiple 377

Intrauterine

fetal blood transfusion 26, 28–30

growth restriction 154, 176

infection 32, 89

platelet transfusion 295

transfusion 83, 294, 295

Intravenous immunoglobulin 77, 179, 160, 211, 212, 367, 437

replacement therapy 363

Iron

deficiency anemia, treatment of 66

inhibitors 67

requirement 64

therapy 72

Ischemia, hypoxic 135

Isovaleric acidemia 159

Itch deficiency 408

Jacobsen syndrome 159, 165, 442

Janus-associated kinase 356, 357

Jaundice 95

Job's syndrome 377, 438

Joints, swelling of 434

Kaposi's sarcoma 272, 361

Kasabach-Merritt syndrome 90, 156, 159, 161, 176, 177

Ketotic glycinemia 159

Klebsiella pneumoniae 336

Klippel-Feil syndromes 225

Kostmann syndrome 208, 209, 348

Kupffer cells 328

Lactate dehydrogenase 241, 258

Lactation 64

Langerhans cell histiocytosis 226

Lectin-binding pathway deficiency 420

Leiomyosarcoma 252

Leishmania 400

Leucine-rich repeat containing receptors 320

Leukemia 5, 104, 194, 217, 218, 225, 226, 230, 270, 272

acute 226f

lymphoblastic 218

myeloid 228

neonatal 226

Leukemoid reaction 186

Leukocyte

adhesion defect 198, 199, 199t, 204, 338, 350, 351

management of 198

adhesion deficiency 185, 439, 440

depletion 288

Leukoplakia 107f

Liley's chart 27

Liley's curve 84

modified 84f, 85f

Lipoblastoma 253

Lipodystrophy 432

Lipopolysaccharide 14, 16, 328

Lipoprotein 143

Liposarcoma 253

myxoid 252

Listeria monocytogenes 332, 336

Liver 4, 409

disease 167, 176, 177

extrarenal rhabdoid tumor of 235f

failure 177

hematopoiesis 4

regulation of 5

infantile choriocarcinoma of 234

tumors, benign 235

Low-molecular-weight heparin 146, 147t, 148

Lung

disease, chronic 305

injury, acute 285, 296

Lymph nodes 331

draining 250

Lymphoblastic leukemia, acute 104, 143, 217, 218, 225, 227

Lymphocyte 6fc, 354

Lymphohistiocytosis, hemophagocytic 157, 191, 194, 209, 211, 226, 344, 389, 390, 393, 394, 397–399, 399t, 400, 401f, 402f, 403fc

Lymphoid organs

primary 318

secondary 318

Lymphoid tissue 331

gut-associated 331

nasopharynx-associated 331

skin associated 331

Lymphoma 194, 272, 408

Lymphopenia 344

Lymphopoiesis, primary 354f

Lymphoproliferative syndrome, X-linked 393, 406

Macroglobulinemia 112

Macrophage 318, 333

activation syndrome 390, 398

colony-stimulating factors 299

Macrothrombocytopenia 175

X-linked 159

Malaria 63, 89, 296

Marfan syndrome 163, 175

Marrow failure syndrome 209

Mast cells 330

Maternal

alloimmunization 25, 75

management of 77

antibody testing 76

antithyroid-stimulating hormone receptor 334

autoantibodies 175

blood grouping 76

hemorrhage 176

hypertension 348

hypoferremia 65

immune thrombocytopenic purpura 175

rash 176

systemic lupus erythematosus 175

May-Hegglin anomaly 157, 159, 160, 175

May-Hegglin syndrome 163

Mean corpuscular

hemoglobin 33, 60, 60t, 67, 92

concentration 60t

volume 33, 60, 60t, 67, 87, 88

Measles 363

Mediterranean fever, familial 199, 428, 429, 433, 435

Medulloblastoma 222

Megakaryoblastic leukemia, acute 219

Megakaryocyte 19, 19f, 21

cell biology 24

maturation 21, 22

Membrane attack complex 415, 416

Mental

development index 279, 309

retardation 103

Metabolic disorders 159

Metamyelocytes 89f

Methylene tetrahydrofolate reductase polymorphism 143

Microbicidal metabolism, disorders of 201

Microphthalmia 103

Migratory erythema 432

Mixed lineage leukemia 217, 225

Molluscum contagiosum 377

Monocytes 6fc

development of 7fc

Mononuclear cells 14

Montreal platelet syndrome 159

Moraxella catarrhalis 366, 373, 374

Morbilliform rash 432

Muckle-Wells syndrome 430, 430f

Mucocutaneous candidiasis, chronic 342, 409, 409t, 436

Multifocal infantile hepatic hemangioma 231, 231f

Multiple coagulation factors, hereditary deficiency of 124

Mumps 363

Myalgia 434

Mycobacteria 361

Mycobacterial diseases 342, 342f, 345

Mycobacterium avium 342

Mycobacterium bovis 339

Mycophenolate mofetil 407, 424

Myelocytes 89f

Myelodysplastic syndrome 167, 190

Myelofibrosis 5

Myelogenous leukemia, acute 159

Myeloid leukemia

acute 23, 104, 219, 225, 227

chronic 52

Myeloma, multiple 112

Myelomonocytic leukemia, juvenile 227, 228, 396

Myeloperoxidase deficiency 202, 350, 351

Myelopoiesis 299f

Myeloproliferative disorder 167, 228

Nalidixic acid 95

Naphthalene 95

National Neonatal Perinatal Database 135, 336

Natural killer cells 53, 75, 327, 330, 341, 389, 391, 398

Nausea 434

Necrosis 245

Necrotizing enterocolitis 78, 89, 154, 178, 179, 189, 278, 284, 303, 305, 309, 348

Neisseria meningitides 33, 373, 419

Neonatal

acute lymphoblastic leukemia 227f

alloimmune

neutropenia 207

thrombocytopenia 154, 158, 175, 177, 179

bone marrow 15

cell-mediated responses 331

erythropoiesis 303

gastrointestinal tract 327

germ cell tumor 254, 257, 259

granulocytes 16t

hemolysis 88

hemophagocytic lymphohistiocytosis 399

hemostasis 10

immune

neutropenia 193

system 337

immunity 325, 327

infections 155

intensive care unit 113, 125, 135, 153, 183, 188, 272, 303, 338

jaundice 91

leukemia 225, 226

development of 225

liver tumor 230, 230t

malignant 232

malignancies 270

megakaryopoiesis 153

myeloid series 299

necrotizing enterocolitis 328

neutropenia 195

causes of 189t

immune mediated 349

neutrophils 15

quantitative insufficiency of 15

onset multisystem inflammatory disease 432

polycythemia 111

polymorphonuclear leukocyte 300

sepsis 17, 89, 89f, 300, 327, 336

soft tissue sarcomas 250

thrombocytopenia 153, 154, 159

causes of 154

tumors 271, 272t

distribution of 270t

Wilms’ tumor 246

Nephroblastomatosis 244, 247

Nephroma

cystic 244, 247

mesoblastic 244, 245, 245t

Neuroblastoma 217, 219, 226, 230, 234, 238, 239, 239f, 270, 272

familial 239

infantile 220f

intrarenal 247

Neutropenia 188, 189, 191, 192, 194, 206, 207, 210, 347, 348, 369

antibody-mediated 349

autoimmune 189, 193, 207, 211, 348, 349, 361

causes of 207, 211t, 348

chronic benign 193

congenital 211

cyclic 190, 208, 211, 348, 349

drug-induced 189, 192, 211, 350

familial benign 191

idiopathic 189, 211

severe congenital 109, 190, 303fc, 342

symptoms of 188

Neutrophil 208, 318, 329

antibodies 194

chemotaxis 350

development of 14

dysfunction 350, 351

extracellular traps 16

function defects 198, 203fc, 204

disorders 204t

immunodeficiency syndrome 186

morphology 207

number, disorders of 348

progenitors, infection of 211

reference range of 183f

Neutrophilia 183, 185

causes of 185

hereditary 185, 186

mechanism of 183

Next generation sequencing technique 44, 446

Nicotinamide adenine dinucleotide phosphate 94, 329

Nijmegen breakage syndrome 360, 377, 379

Nitroblue tetrazolium 345

dye reduction test 351

Nodular regenerative hyperplasia 371

Non-Hodgkin's lymphoma 404

Nonrhabdomyosarcoma soft tissue tumors 253

Nonsteroidal anti-inflammatory drugs 164, 218

Noonan syndrome 226–228

North American Survey 104

Northern Neonatal Nursing Initiative Trial Group 283

Novel erythropoiesis stimulating protein 310

Nucleotide oligomerization domain 320, 321

Omenn syndrome 338, 342, 358, 361, 436, 442

Omphalitis 343f

Opportunistic infections, management of 363

Oral

cavity 369f

polio 363

vaccine 440

ulcer 419f

Organic acidemias 211, 348

Osmotic fragility test 93

Ossifying renal tumor 244, 247

Osteogenesis imperfecta 163, 175

Packed red blood cells 210, 295

transfusion 277, 278

Pain

abdominal 434

chest 434

Paralytic poliomyelitis, vaccine-associated 342

Parathyroid glands 409

Paris-Trousseau syndrome 159, 165, 169

Paroxysmal nocturnal hemoglobinuria 418, 421

management of 424

Partial volume exchange transfusion 114

Parvovirus 70

B19 infection 294

Patau syndrome 161

Peak systolic velocity 26, 29, 30

Pegademase bovine 363

Pelger-Huët anomaly 186

Pentraxins 319

Peptides, antimicrobial 319, 327, 329

Perinatal sepsis 155

Periodic fevers 430

Periodontitis, juvenile 350

Peyer's patches 190

Phagocytic defects 343, 345

Pharyngitis 430

Phenazopyridine 95

Phosphatidylserine 166

Phosphofructokinase deficiency 96

Phosphoglycerate kinase deficiency 96

Phosphorus, deficiency of 67

Placenta previa 176

Placental red cell transfusion 112

Plasma 283–284

albumin 268

globulin 268

transfusion 284, 285

Plasminogen activator inhibitor deficiency 175

Plasmodium falciparum 90

Plasmodium vivax 90

Platelet 19, 50, 137

antibody-induced platelet dysfunction 167

count 176, 280

developmental

aspects of 19

pathway of 21fc

disorders, severe 172

dysfunction 164, 172

formation 22

function 20

analyzer 168, 168t, 281

defects 163, 169

disorders 172, 177, 179

test 170t

granule disorders 164

hemostatic function 167, 168

neutralization procedure 121

nucleotide assays 168

number 167

production, exogenous stimulation of 24

receptors, disorders of 166

structure 20

transfusion 172, 179t, 280

Pleomorphic spindle cell neoplasm 251t

Pneumatocele 381

Pneumocystis carinii 377, 438

Pneumocystis jirovecii 338, 339, 342, 361, 384, 408, 438

pneumonia 362, 384

Polycythemia 111, 144

hyperviscosity, pathophysiology of 112fc

medical management of 113

Polymerase chain reaction 30, 217, 339, 390

Pompe disease 45

Portal hypertension, idiopathic noncirrhotic 371

Portal vein thrombosis 144

Primary immunodeficiency 336, 354, 436, 440t

diseases 366

disorders 341, 342, 376, 387, 417, 441, 444

Properdin deficiency 419

Prostaglandins 334

Prosthetic cardiac valves 144

Protease inhibitors 333

Proteins 327

antimicrobial 329

C deficiency 142, 143

S deficiency 142

zeta chain-associated 357

Prothrombin 142

complex concentrate 122, 131, 284

deficiency 123

time 9, 120, 131, 174, 176, 178, 283

Pseudomonas aeruginosa 89, 366

Pseudoxanthoma elasticum 163

Psoriasis 361

Purine nucleoside phosphorylase 342, 357, 359

deficiency 359, 361

Purpura fulminans 139f

Pyknocytosis, infantile 90

Pyoderma gangrenosum 429, 430, 432

Pyridoxine, deficiency of 67

Pyruvate kinase deficiency 25, 91, 95

Qualitative platelet defects, treatment of 172

Quebec platelet syndrome 166

Queenan curve 85f

Raccoon eyes 239

Radius syndrome 160

Ranitidine 211

Rash 432

erythematous 419f

Red blood cell 4, 25, 59t, 61t, 63, 81, 87, 207, 409

alloimmunization 25

normal 60f

Red cell

adenosine deaminase 108

components 291f

count 60

indices 60

Refractory disease 403

Renal tumors 230, 244, 244t

Renal vein thrombosis 177

Respiratory distress syndrome 179

Respiratory syncytial virus 339

Reticular dysgenesis 189, 209, 211, 348, 349, 358, 361

Reticulocyte 61f

count 60, 113

hemoglobin 68

Retinoblastoma 217, 222, 263–265

heritable 264

Retinocytoma 264

Retinoma 264

Rh blood group system 74

Rh hemolytic disease 82

Rh isoimmunization 74

Rhabdoid tumor 222, 230

malignant 234, 244, 246

Rhabdomyosarcoma 230, 251, 252

congenital 226

Rhesus disease, severe 176

Rheumatoid arthritis, juvenile 390

Rotavirus 363

Rubella 226

infection 348

Sacrococcygeal teratoma 254, 255, 255f, 256f, 259

Sarcoma

embryonal 230, 234

epithelioid 252

hepatic 230

high grade 251f

Scalp 409

Schimke immunoosseous dysplasia 381

Schimke syndrome 377

Sclerosing cholangitis 129

Scott syndrome 166

Sebastian's syndromes 159

Selective immunoglobulin A deficiency 372

Seminoma 257

Sepsis 135, 176, 177, 185, 189

Septicemia 348

Serositis 361

Serratia marcescens 439

Serum alfa-fetoprotein values, normal range of 258t

Serum glutamic pyruvic transaminase 396

Severe Chronic Neutropenia International Registry 102, 190

Shwachman-Diamond syndrome 102, 108, 191, 348, 349

Sickle cell 98f

anemia 5, 98

disease 40, 98

Simpson-Golabi-Behmel syndrome 245

Sjögren syndrome 361

Skin 409

hypopigmentation 200

immune system 327

pigmentation 103

abnormal 107f

rash 434

Soft tissue

neoplasms 251

sarcomas 250, 252, 252t

swelling 250, 250f

Solid tumors 104, 219

Specific granule deficiency 200, 204, 350

Spherocytosis, hereditary 25, 91, 92f

Spina bifida 255

Spindle cell sarcoma, nonpleomorphic 252t

Spleen 331

Splenectomy 173, 408

Splenic follicles 190

Staphylococcus aureus 188, 210, 300, 336, 338, 342, 347, 349, 366, 374, 381, 439

Staphylococcus epidermidis 210

Stem cell

factor 51, 299

transplant 105, 401f, 402f

Stomach 409

Stomatitis, aphthous 430

Stomatocytosis, hereditary 94

Storage pool diseases 169

Streptococcus pneumoniae 89, 333, 366, 369, 373, 374, 381, 420, 423

infections 419

Streptococcus pyogenes 369, 373

Stress erythropoiesis 5

Sulfacetamide 95

Sulfamethoxazole 95

Sulfanilamide 95

Sulfapyridine 95

Syndromic thrombocytopenia, causes of 159

Synovial sarcoma 250f, 251f, 252

Syphilis 70, 226

Systemic lupus erythematosus 155, 361, 390, 417, 419f

T-cell 330, 354

activation 322

defects 443

evaluation 362

function 362

lineage development 357f

lymphopenia, Secondary 442

receptor excision circles 362, 370, 442f

Teratoma 230

hepatic 232

Tertiary lymphoid organs 318

Tetralogy of Fallot 185

Thalassemia 5

homozygous 294

Thiazides 211

Thiazolesulfone 95

Thrombocytopenia 90f, 155, 159, 160, 176–178

absent radii 109, 175

amegakaryocytic 185

autoimmune 177, 361

congenital 384, 376, 377

heparin induced 144, 175

inherited 156, 157

X-linked 159, 376, 378

Thromboembolism, prophylaxis of 149

Thrombophilia 141

heritable 141, 142t

Thrombopoietin 22, 298

Thrombosis 143

management of 148

Thrombotic thrombocytopenic purpura 154, 361

Thymic defects 377, 380

Thymus 331

cells 354

Thyroid gland 409

Tissue plasminogen activator 8

Toll-like receptor 15, 320, 327, 328, 329t, 338

Tonsillar fossa 369f

TORCH infections 177, 185

Total iron binding capacity 68

Total parenteral nutrition 218, 307

Toxoplasmosis 226

Transfusion transmitted infections 296

Trauma 144, 167

Triose phosphate isomerase deficiency 96

Tumor

cells 251

hypothalamic 221f

malignant 272

markers 257

mediastinal 259

necrosis factor 319, 356, 429

Turner syndromes 225

Twin-twin transfusion

donors of 348

syndrome 25, 31, 112, 226, 348

Typical radial ray deformity 104f

Umbilical

cord, hematoma of 295

stump, infection of 343f

vessels, treatment of 59

United Kingdom Dyskeratosis Congenita Registry 10

Uridine diphosphoglucuronosyl transferase gene 95

Urinary plasminogen activator 8

Urticarial rash 430f, 432

Varicella zoster virus 382

Vascular endothelial growth factor 5

Vasculitis 361

Vein, umbilical 30

Velocardiofacial syndrome 159, 160, 384

Vesicoureteric reflux 255

Vibrio cholera 333

Video-assisted thoracic surgery 259

Viral infections 176, 211, 296, 338, 390

postnatal 89

Vitamin

A, deficiency of 67

B12 68

defects of 377, B12 383

C, deficiency of 67

E deficiency 90, 91

K 124

antagonists 147, 148

K deficiency 119, 127, 133, 175, 177

bleeding 127, 133, 174, 175, 177

K dependent

clotting factors deficiency 120, 124

coagulation factors 174

proteins, carboxylation of 129

K, role of 129

Vitiligo 409

Vomiting 434

von Willebrand disease 119, 159, 163, 168, 169, 175, 177, 285

von Willebrand factor 21, 120, 122, 142, 160, 163, 174

WAGR syndrome 245

Warts 209

Wasp interacting protein deficiency 378

Whim syndrome 191, 209

White blood cells 6, 198

Whole blood transfusion 277

Wilms’ tumor 217, 244–247

syndrome 245

Winged-Helix-Nude deficiency 359, 362

Wiskott-Aldrich syndrome 109, 157, 159, 169, 175, 177, 208, 211, 281, 338, 342, 343, 350, 360, 376–378, 423, 436, 438, 444

Witebsky's partial neutralization test 82

Wright-Giemsa stain 161

Xanthogranuloma, juvenile 226

Yolk sac

hematopoiesis 3–5

tumors 230, 254

Zinc

deficiency of 67

protoporphyrin 68

TOC
Index

Chapter Notes