
Textbook of Pediatric Rheumatology E-Book
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Content
- Front Cover
- IFC
- PEDIATRIC RHEUMATOLOGY
- PEDIATRIC RHEUMATOLOGY
- Copyright
- Dedication
- PREFACE
- CONTRIBUTORS
- CONTENTS
- I - Basic Concepts
- 1 - Structure and Function
- THE SKELETON
- Bone
- Joints
- TENDONS
- LIGAMENTS AND FASCIA
- ENTHESES
- BURSAE
- SKELETAL MUSCLE
- Classification of Skeletal Muscles Based on Shape
- The Function of Skeletal Muscle
- ONLINE REFERENCES
- 2 - Genetics and Pediatric Rheumatic Diseases
- INTRODUCTION
- GENES, VARIATION, AND THE HUMAN GENOME SEQUENCE IN BIOMEDICAL RESEARCH
- Gene Structure, Function, and the Central Dogma of Molecular Biology
- Noncoding RNA
- Gene Regulation
- Genetic Variation
- SNP Genotyping
- Conventional DNA Sequencing
- Massively Parallel High-Throughput Sequencing
- APPROACHES FOR INVESTIGATING MONOGENIC PEDIATRIC RHEUMATIC DISEASE
- Linkage Analysis
- High-Throughput Sequencing-Based Studies
- APPROACHES FOR INVESTIGATING POLYGENIC PEDIATRIC RHEUMATIC DISEASE
- Family Studies (Twins, Siblings, Registries)
- Association Studies
- CANDIDATE GENE STUDIES IN PEDIATRIC RHEUMATOLOGY
- TRANSMISSION DISEQUILIBRIUM TESTING
- GENOME-WIDE ASSOCIATION STUDIES
- GENOME EDITING
- ONLINE REFERENCES
- 3 - Mechanistic Investigation of Pediatric Rheumatic Diseases
- INTRODUCTION
- THE ESSENCE OF A TEST
- Essentials
- Normal Ranges
- Absolute Versus Relative Measurement
- Hypothesis Generating versus Hypothesis Testing
- Omic Resources
- GENETIC AND EPIGENETIC INVESTIGATIONS
- Cell Separation
- Flow Cytometry
- Fluorescence-Activated Cell Sorting
- Cytometry by Time-of-Flight
- Cytometry in Disease
- PROTEIN QUANTITATION AND PROTEOMICS
- General Aspects of Proteomics in Juvenile Rheumatic Diseases
- Protein Localization
- Protein Quantitation
- Challenges in Proteomics
- Proteomics in Pediatric Rheumatic Diseases
- QUANTITATING RNA
- General Aspects
- Transcriptomics
- ASSESSMENT OF MICROBIAL POPULATIONS
- Traditional Techniques
- SUMMARY
- ONLINE REFERENCES
- 4 - Inflammation and Its Mediators
- CELLS OF INNATE IMMUNITY
- Phagocytes
- Dendritic Cells
- Natural Killer Cells
- Innate Lymphoid Cells
- Fibroblasts
- Molecules of Innate Immunity
- THE INFLAMMATORY RESPONSE
- The Recruitment of Leukocytes into Inflamed Tissue
- ONLINE REFERENCES
- 5 - Adaptive Immunity and Autoimmunity
- INTRODUCTION TO ADAPTIVE IMMUNITY
- T CELLS
- T-Cell Development
- Antigen-Induced T-Cell Activation
- Effector T-Cell Differentiation
- T Cells in Autoimmunity
- T-Cell Subsets in Autoimmunity
- B CELLS
- B-Cell Development
- Antibody Production by B Cells
- Antibody-Independent Effector Mechanisms
- ANTIGEN PRESENTATION
- HLA Genes, Proteins, and Functions
- Peptide Loading Pathways for HLA Class I and Class II Molecules
- Functional Specialization of Antigen Presentation Mechanisms
- Antigen Presentation by HLA Molecules and Disease
- Therapeutic Targeting of Antigen Presentation
- CONCLUSIONS
- ONLINE REFERENCES
- 6 - Understanding Clinical Investigations
- TRUTH, LEVELS OF EVIDENCE, AND EVIDENCE-BASED MEDICINE
- BASIC CONCEPTS
- Exposures and Outcomes
- Observational Versus Experimental Studies
- Controlled Versus Uncontrolled Studies
- Association Versus Causation
- Formalizing a Research Question
- STUDY DESIGN
- Descriptive Studies
- Case-Control Studies
- Cohort Studies
- Randomized Controlled Studies
- Comparative Effectiveness Studies
- Cluster Randomized Studies
- Decision Analysis and Cost-Effectiveness Studies
- Systematic Reviews and Meta-Analysis Studies
- DESCRIBING DATA
- Measures of Central Tendency and Variance
- Z Scores
- Describing Nonnormal or Nonparametric Distributions
- PARADIGMS OF INFERENCE
- Hypothesis Testing
- Sample Size Determinations
- CONCEPTS AND TERMINOLOGY FOR COMMUNICATING STUDY RESULTS
- Confidence Intervals
- Disease Frequency: Incidence and Prevalence
- Communicating Risk
- Assessing Predictive Ability
- Reproducibility of Results
- BASIC TESTS OF ASSOCIATION
- Selecting the Appropriate Statistical Test
- One-Sample Tests
- Two-Sample Tests
- K-Sample Tests
- Correlations and Analyses of Association
- ADVANCED DATA ANALYSES
- Regression Analyses
- Analysis of Covariance
- Survival Analysis
- Measures of Agreement Among and Within Raters
- Multivariate Analyses
- Factor Analysis
- Item Response Theory and Rasch Analysis
- ASSESSING AND INTERPRETING RESULTS
- Missing Data
- Bias
- ASSESSING THE QUALITY OF CLINICAL INVESTIGATIONS
- Assessing Individual Studies
- ONLINE REFERENCES
- 7 - Clinical Outcome Measures in Pediatric Rheumatic Diseases
- INTRODUCTION
- JUVENILE IDIOPATHIC ARTHRITIS
- American College of Rheumatology Pediatric Response Criteria
- Criteria for Clinically Inactive JIA
- Criteria for Low (or Minimal) Disease Activity
- Juvenile Arthritis Disease Activity Score (JADAS)
- Systemic JADAS
- Juvenile Arthritis Damage Index
- SYSTEMIC LUPUS ERYTHEMATOSUS
- British Isles Lupus Assessment Group
- The Pediatric Rheumatology International Trials Organization Preliminary Core Set of Outcome Variables and Definition of Improve...
- ACR Provisional Criteria for Clinically Relevant Improvement in Children and Adolescents with Childhood-Onset Systemic Lupus Ery...
- JUVENILE DERMATOMYOSITIS
- Manual Muscle Testing
- Childhood Myositis Assessment Scale
- Hybrid MMT/CMAS (hMC)
- Cutaneous Assessment Tool
- Disease Activity Score
- Myositis Damage Index
- The PRINTO and International Myositis Assessment and Clinical Studies Group Core Sets and Definitions of Improvement
- Criteria for Inactive Disease
- SCLERODERMA
- Modified Localized Scleroderma Skin Severity Index
- Juvenile Systemic Sclerosis Severity Score
- Modified Rodnan Skin Score
- SYSTEMIC VASCULITIS
- Pediatric Vasculitis Activity Score
- Vasculitis Damage Index
- PARENT- AND CHILD-REPORTED OUTCOMES
- Childhood Health Assessment Questionnaire
- Child Health Questionnaire
- Pediatric Quality of Life Inventory (PedsQL)
- Juvenile Arthritis Quality of Life Questionnaire
- CONCLUSIONS
- ONLINE REFERENCES
- 8 - Pain and Its Assessment
- INTRODUCTION
- BIOPSYCHOSOCIAL MODEL OF PAIN
- Biological Factors
- Psychological Factors
- Social/Environmental Factors
- Implications for Assessment and Treatment
- ASSESSMENT OF PAIN
- Self-Report Pain Measures
- Electronic Pain Diaries
- Observational Behavioral Measures
- TREATMENT OF PAIN
- FUTURE DIRECTIONS
- ONLINE REFERENCES
- 9 - Imaging in Pediatric Rheumatic Diseases
- INTRODUCTION
- IMAGING MODALITIES: TECHNICAL ASPECTS
- Radiography
- Sonography
- Computed Tomography
- Cone Beam Computed Tomography
- Magnetic Resonance Imaging
- Arthrography
- Bone Scintigraphy
- PHYSIOLOGICAL FINDINGS, NORMAL VARIANTS, AND REFERENCE STANDARDS
- Radiography
- Sonography
- Magnetic Resonance Imaging
- Imaging in Joint Disease
- INFLAMMATORY ARTHRITIS
- Juvenile Idiopathic Arthritis
- Imaging in the Assessment of Response to Therapy
- Transient Synovitis of the Hip
- Joint Injections
- ENTHESITIS-RELATED ARTHRITIS/SPONDYLARTHOPATHIES
- Appendicular Skeleton
- Axial Skeleton
- PSORIATIC ARTHRITIS
- Radiography
- Sonography
- Magnetic Resonance Imaging
- Axial Skeleton
- ONLINE REFERENCES
- 10 - Laboratory Investigations
- INTRODUCTION
- LABORATORY METHODS
- Immunofluorescence
- Enzyme-Linked Immunosorbent Assay (ELISA)
- Radioimmunoassay
- Immunoblotting (Western Blotting)
- Immunodiffusion and Counterimmunoelectrophoresis
- Turbidimetry and Nephelometry
- Laser Microbead Arrays
- TESTS
- Antinuclear Antibodies
- Immunofluorescence Patterns
- Antibodies to Extractable Nuclear Antigens
- Detection
- Anti-DNA Antibodies
- Detection
- Antinucleosome Antibodies
- Antineutrophil Cytoplasmic Antibodies
- Antiglomerular Basement Membrane Antibodies
- Rheumatoid Factor
- Anticitrullinated Peptide Antibodies
- Antiphospholipid Antibodies
- Complement
- OTHER LABORATORY INVESTIGATIONS
- Measures of the Acute Phase Response
- Synovial Fluid
- Urinalysis
- Genetic Assessment of Rheumatic Diseases
- THE FUTURE
- ONLINE REFERENCES
- 11 - Principles in the Management of Patients with Rheumatic Disease
- INTRODUCTION
- GENERAL APPROACH TO MANAGEMENT
- Scope of Disease
- Long-Term Goals and Functioning
- Approach
- Family and Education
- OTHER IMPORTANT TOPICS
- Financial and Insurance Issues
- Complementary and Alternative Therapies
- FUTURE ENDEAVORS
- Treat to Target
- SUMMARY
- Organizations
- ONLINE REFERENCES
- 12 - Global Issues in Pediatric Rheumatology
- EPIDEMIOLOGY
- Juvenile Idiopathic Arthritis
- Systemic Lupus Erythematosus
- Juvenile Dermatomyositis
- Vasculitis
- Acute Rheumatic Fever
- CHALLENGES IN DIAGNOSIS AND MANAGEMENT
- Socioeconomic Challenges
- Challenges Related to Comorbidities
- Shortage of Specialized Manpower
- STRATEGIES TO IMPROVE OUTCOMES
- Increasing Knowledge About Pediatric Rheumatology
- Other Options
- Development of Guidelines and Consortia for the Management of Rheumatic Disease in Low-Resource Settings
- Enhancement of Research in Diseases Prevalent in Less-Resourced Countries
- ONLINE REFERENCES
- 13 - Therapeutics: Nonbiologics
- CONCEPTS IN PHARMACOLOGY
- Drug Absorption and Bioavailability
- Volume of Distribution
- Half-Life and Clearance
- Drug Biotransformation
- Precision Medicine and Individualized Drug Therapy
- ANTIRHEUMATIC DRUGS
- Nonsteroidal Antiinflammatory Drugs
- Salicylates
- Disease-Modifying Antirheumatic Drugs
- Other Disease-Modifying Drugs
- THERAPEUTICS FOR AMPLIFIED PAIN
- ONLINE REFERENCES
- 14 - Therapeutics: Biologics and Small Molecules
- GENERAL CONSIDERATIONS
- INTRAVENOUS IMMUNOGLOBULIN
- INHIBITION OF T CELL COSTIMULATION
- CTLA-4 Ig (Abatacept)
- B-CELL TARGETED BIOLOGICAL DMARDS
- Rituximab
- Belimumab
- INTERFERENCE WITH CYTOKINES
- Tumor Necrosis Factor Inhibitors
- Etanercept
- Infliximab
- Adalimumab
- Golimumab
- Certolizumab
- IL-1 Inhibitors
- IL-6 Inhibitors
- IL-17 and IL-23 Inhibition
- KINASE INHIBITORS
- Tofacitinib
- Baricitinib and Others
- Other JAK Inhibitors
- ONLINE REFERENCES
- 15 - Nonmedical Therapies in Pediatric Rheumatic Diseases
- JOINT AND MUSCLE HEALTH
- EPIDEMIOLOGY OF JOINT AND MUSCLE HEALTH IN PEDIATRIC RHEUMATIC CONDITIONS
- Juvenile Idiopathic Arthritis
- Juvenile Dermatomyositis
- Juvenile Systemic Lupus Erythematosus
- Juvenile Scleroderma
- Examining Joint and Muscle Health
- Assessment of Muscle Function and Muscle Strength
- IMPROVING JOINT AND MUSCLE HEALTH
- Joint and Muscle Pain
- Joint and Muscle Exercise
- MOTOR DEVELOPMENT AND MOTOR PERFORMANCE
- Motor Behavior as a Diagnostic Tool for Musculoskeletal Conditions in Early Life
- Early Motor Milestones, Motor Proficiency at School Age, Physical Literacy, Sports, and Athletic Skills at Adolescence
- PHYSICAL ACTIVITY LEVEL AND EXERCISE TOLERANCE
- Physical Activity Level
- Aerobic and Anaerobic Fitness
- PSYCHOSOCIAL AND OCCUPATIONAL HEALTH
- Psychosocial Development
- Daily Living: Pain and Pain Relief
- Daily Living: Fatigue, Sleep, Energy Conservation, and Pacing Strategies
- Play, School, and Social Inclusion
- Long-Term Considerations
- ADDITIONAL ASPECTS OF HEALTH
- Patient and Family Education
- Effects of Uveitis on Function
- SUMMARY
- ACKNOWLEDGEMENTS
- ONLINE REFERENCES
- II - Inflammatory Joint Disease and Related Conditions
- 16 - Juvenile Idiopathic Arthritis: Classification and Basic Concepts
- HISTORICAL ASPECTS
- 8CLASSIFICATIONS OF CHRONIC CHILDHOOD ARTHRITIS
- EPIDEMIOLOGY
- GENETIC ASSOCIATIONS
- CLINICAL MANIFESTATIONS OF JIA
- PATHOLOGY
- IMAGING
- BURDEN OF DISEASE
- KEY REFERENCES
- ONLINE REFERENCES
- 17 - Systemic Juvenile Idiopathic Arthritis
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- CLINICAL MANIFESTATIONS
- Fever
- Rash
- Musculoskeletal Disease
- Myalgia and Myositis
- Cardiac Disease
- Pleural Disease
- Lymphadenopathy and Splenomegaly
- Hepatic Disease
- Central Nervous System Disease
- Other sJIA Features
- Complications of sJIA
- DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS
- Adult-Onset Still Disease
- PATHOLOGY
- LABORATORY EXAMINATION
- RADIOLOGICAL EXAMINATION
- TREATMENT
- Approach to Management
- Pharmacological Therapy
- COURSE OF THE DISEASE AND PROGNOSIS
- ONLINE REFERENCES
- 18 - Polyarticular Juvenile Idiopathic Arthritis
- DEFINITIONS
- RF-NEGATIVE POLYARTICULAR JIA
- Epidemiology
- Etiology and Pathogenesis
- Clinical Manifestations
- Differential Diagnosis
- Laboratory Testing
- Treatment
- Course of the Disease and Prognosis
- RHEUMATOID FACTOR POSITIVE POLYARTHRITIS
- Epidemiology
- Etiology and Pathogenesis
- Genetic Background
- Clinical Manifestations
- Differential Diagnosis
- Laboratory Investigations
- Treatment
- Course of the Disease and Prognosis
- ONLINE REFERENCES
- 19 - Oligoarticular Juvenile Idiopathic Arthritis
- DEFINITION
- EPIDEMIOLOGY
- Incidence
- Prevalence
- Age at Onset
- Sex Ratio
- GENETICS
- HLA Genes
- Non-HLA Genes
- ETIOLOGY AND PATHOGENESIS
- Environmental Factors
- Immunological Factors
- CLINICAL MANIFESTATIONS
- LABORATORY EVALUATION
- RADIOGRAPHIC EVALUATION
- PATHOLOGY
- DIAGNOSIS
- TREATMENT
- General Management
- Medical Management
- Physical Therapy
- Surgery
- DISEASE COURSE AND PROGNOSIS
- PERSPECTIVE
- ONLINE REFERENCES
- 20 - Enthesitis-Related Arthritis
- DEFINITION AND CLASSIFICATION
- EPIDEMIOLOGY
- Incidence and Prevalence
- Age at Onset
- Sex Ratio
- Geographical and Racial Distribution
- ETIOLOGY
- Genetic Background
- PATHOGENIC MECHANISMS
- CLINICAL MANIFESTATIONS
- Enthesitis
- Arthritis
- Peripheral Joint Arthritis
- Axial Skeleton
- Uveitis
- Gastrointestinal Disease
- Cardiopulmonary Disease
- Nervous System Disease
- Renal Disease
- PATHOLOGY
- DIFFERENTIAL DIAGNOSIS
- LABORATORY EXAMINATION
- RADIOLOGICAL EXAMINATION
- Sacroiliac Joints
- Spine
- Entheses
- WHOLE-BODY MRI
- TREATMENT
- General Management
- Medications
- Physical and Occupational Therapy
- Surgery
- COURSE OF THE DISEASE AND PROGNOSIS
- ONLINE REFERENCES
- 21 - Psoriatic Juvenile Idiopathic Arthritis
- DEFINITION AND CLASSIFICATION
- EPIDEMIOLOGY
- Incidence and Prevalence
- Age at Onset and Sex Ratio
- ETIOLOGY, PATHOLOGY, AND PATHOGENESIS
- PATHOLOGY
- Synovial Pathology
- Entheseal Pathology
- PATHOGENESIS
- Genetic Contribution
- Cytokines and Other Mediators
- The Microbiota
- Environmental Contribution
- CLINICAL MANIFESTATIONS
- Subgroups within PsJIA
- LABORATORY EXAMINATION
- RADIOLOGIC EXAMINATION
- TREATMENT
- Peripheral Arthritis
- Spondylitis
- COURSE AND PROGNOSIS
- ONLINE REFERENCES
- 22 - Uveitis in Juvenile Idiopathic Arthritis
- CLASSIFICATION OF UVEITIS
- UVEITIS IN JUVENILE IDIOPATHIC ARTHRITIS
- History: The Association of Arthritis and Uveitis
- Epidemiology
- Etiology and Pathogenesis
- Genetic Background
- Clinical Manifestations
- Differential Diagnosis
- Uveitis in Other Diseases
- LABORATORY EXAMINATION
- Investigations
- MANAGEMENT
- Medical Management of Chronic Uveitis Associated with JIA
- Surgical Management
- DISEASE COURSE AND PROGNOSIS
- ONLINE REFERENCES
- III - Inflammatory Connective Tissue Disease
- 23 - Systemic Lupus Erythematosus, Mixed Connective Tissue Disease, and Undifferentiated Connective Tissue Disease
- SYSTEMIC LUPUS ERYTHEMATOSUS
- EPIDEMIOLOGY
- CLINICAL DISEASE PRESENTATION
- APPROACH TO THE CHILD WITH SLE
- MORBIDITY AND MORTALITY
- 24 - Antiphospholipid Syndrome
- DEFINITION AND CLASSIFICATION
- EPIDEMIOLOGY
- Primary Antiphospholipid Syndrome
- Secondary Antiphospholipid Syndrome
- Healthy Children
- ETIOLOGY AND PATHOGENESIS
- Pathophysiology
- Characteristics that Influence Pathogenicity of APLA
- Prothrombotic Effects of APLA on Cells
- GENETIC BACKGROUND
- Genetic Studies
- CLINICAL MANIFESTATIONS
- Thrombosis
- Hematological Manifestations
- Skin Manifestations
- Neurological Manifestations
- Other Manifestations
- Catastrophic Antiphospholipid Syndrome
- Perinatal Complications Associated with APLA
- PATHOLOGY
- DIAGNOSIS AND DIFFERENTIAL DIAGNOSIS
- LABORATORY EXAMINATION
- RADIOLOGIC EXAMINATION
- TREATMENT
- Primary Thromboprophylaxis
- Other Drugs
- Catastrophic Antiphospholipid Syndrome
- COURSE OF THE DISEASE AND PROGNOSIS
- ONLINE REFERENCES
- 25 - Neonatal Lupus Erythematosus
- ETIOLOGY AND PATHOGENESIS
- Autoantigens
- Calcium Channels
- Autoantibodies
- Maternal Factors
- Environmental Factors
- Immunological Factors
- Genetic Background
- CLINICAL FEATURES
- Cardiac NLE
- Cutaneous Neonatal Lupus Erythematosus
- Liver Disease
- Hematological Disease
- Neurological Involvement
- Chondrodysplasia Punctata
- Other Manifestations
- LONG-TERM RISK OF AUTOIMMUNE DISEASE
- Children
- Mothers
- ONLINE REFERENCES
- 26 - Juvenile Dermatomyositis and Other Inflammatory Muscle Diseases
- EPIDEMIOLOGY
- CAUSES AND PATHOGENESIS
- Genetic Background
- Environmental Factors
- Immunological Mechanisms
- Chimerism
- CLINICAL MANIFESTATIONS
- Constitutional Symptoms and Signs
- Musculoskeletal Disease
- Mucocutaneous Disease
- Cardiopulmonary Involvement
- Gastrointestinal Disease
- Rare Manifestations
- CLASSIFICATION AND DIAGNOSTIC CRITERIA
- LABORATORY EXAMINATION/INVESTIGATIONS
- Muscle Enzymes
- Other Biomarkers
- Autoantibodies
- Electromyography
- Muscle Biopsy
- Radiological Examination
- DIFFERENTIAL DIAGNOSIS
- Amyopathic Dermatomyositis
- Juvenile Polymyositis
- Infectious Inflammatory Myopathies
- Noninflammatory Myopathies
- Malignancy-Associated Dermatomyositis
- Cutaneous Lesions without Muscle Involvement
- TREATMENT
- Pharmacological Treatment
- Nonpharmacological Treatment
- Management of Calcinosis
- Management of Lipodystrophy and Metabolic Syndrome
- CLINICAL ASSESSMENT
- COURSE OF THE DISEASE AND PROGNOSIS
- Course of the Disease
- Mortality Rate and Cause of Death
- Prognosis and Long-term Outcome
- COMPLICATIONS
- Calcinosis
- Lipodystrophy
- Osteoporosis
- ONLINE REFERENCES
- 27 - Juvenile Systemic Sclerosis
- INTRODUCTION
- DEMOGRAPHICS AND EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- Genetics
- Overview of Pathogenesis
- Immunological Factors
- Fibroblasts and Endothelium
- CLINICAL FEATURES
- Cutaneous
- Vascular
- Musculoskeletal
- Gastrointestinal
- Cardiopulmonary
- Renal
- Neurological
- Overall Disease Monitoring
- PATIENT REPORTED OUTCOMES
- SYSTEMIC SCLEROSIS TREATMENT
- Renal Disease
- Pulmonary Arterial Hypertension
- RAYNAUD PHENOMENON
- Medical Treatment of Raynaud Phenomenon
- DIGITAL ULCERS
- Treatment of SSc-Associated Interstitial Lung Disease
- Hematopoietic Stem Cell Therapy
- Cardiac Disease
- Gastrointestinal Disease
- Cutaneous Disease
- Musculoskeletal Disease
- PROGNOSIS
- ONLINE REFERENCES
- 28 - Localized Scleroderma and Eosinophilic Fasciitis
- HISTORICAL REVIEW
- DEFINITION AND CLASSIFICATION
- Associated Conditions
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- Clinical Manifestations
- PATHOLOGY
- DIFFERENTIAL DIAGNOSIS
- LABORATORY EXAMINATION
- Disease Monitoring
- TREATMENT OF LOCALIZED SCLERODERMA
- Skin Directed Therapies
- Systemic Treatment
- Other Treatments and Multiprofessional Team Care
- COURSE OF THE DISEASE AND PROGNOSIS
- ONLINE REFERENCES
- 29 - Sjögren Syndrome and Immunoglobulin-G4 Disease
- SJÖGREN SYNDROME
- DEFINITION AND EPIDEMIOLOGY
- CLASSIFICATION
- CLINICAL MANIFESTATIONS
- Oral Manifestations
- Ocular Manifestations
- Other Glandular Involvement
- Extraglandular Manifestations
- Skin Manifestations
- Arthritis
- Pulmonary Involvement
- Renal Involvement
- Neurological Involvement
- PATHOLOGY
- PATHOGENESIS
- Autoantibodies
- Immunopathological Mechanism of Disease
- LABORATORY EXAMINATION
- IMAGING STUDIES
- Minor Salivary Gland and Parotid Biopsy
- MANAGEMENT
- OUTCOME MEASURES
- PROGNOSIS AND OUTCOME
- Progression to Lymphoma
- IGG4-RELATED DISEASES
- ONLINE REFERENCES
- 30 - Raynaud Phenomenon and Vasomotor Syndromes
- INTRODUCTION
- CLINICAL PRESENTATION
- Epidemiology
- Etiology/Pathogenesis
- DIAGNOSIS
- History
- Clinical Criteria
- Nailfold Capillary Microscopy
- Laboratory Testing
- DIFFERENTIAL DIAGNOSIS
- TREATMENT OF RAYNAUD PHENOMENON
- General Measures
- Behavioral Therapy
- Pharmacological Measures
- Other Measures
- Chemical or Surgical Sympathectomy
- Summary
- MANAGEMENT OF DIGITAL ISCHEMIA
- ERYTHROMELALGIA
- SUMMARY AND FUTURE DIRECTIONS
- KEY REFERENCES
- ONLINE REFERENCES
- IV - Vasculitis
- 31 - Inflammatory Central Nervous System Disorders
- APPROACH TO INFLAMMATORY BRAIN DISORDERS
- SPECIFIC INFLAMMATORY BRAIN CONDITIONS
- Primary Angiitis of the CNS
- Antibody-Associated Encephalopathies
- Rasmussen Encephalitis
- Multiple Sclerosis
- Neuromyelitis Optica Spectrum Disorder
- Acute Disseminated Encephalomyelitis
- Immune Dysregulation/Autoinflammatory CNS Disorders
- Deficiency of Adenosine Deaminase 2 (DADA2)
- Acute Necrotizing Encephalopathy
- Pediatric Acute-Onset Neuropsychiatric Syndrome
- SUMMARY
- ONLINE REFERENCES
- 32 - Vasculitis and Its Classification
- VESSEL STRUCTURE AND FUNCTION
- CLASSIFICATION
- EVALUATION OF VASCULITIS
- EPIDEMIOLOGY
- GENERAL CLINICAL ASPECTS OF VASCULITIS
- ONLINE REFERENCES
- 33 - Immune Complex Small-Vessel Vasculitis: IgA Vasculitis (Henoch-Schönlein) and Hypersensitivity Vasculitis
- IGA VASCULITIS (HENOCH-SCHÖNLEIN PURPURA)
- Definition and Classification
- Epidemiology
- Etiology and Pathogenesis
- Genetic Background
- Clinical Manifestations
- Pathology
- Differential Diagnosis
- Laboratory Examination
- Radiological Examination
- Treatment
- Course of the Disease and Prognosis
- HYPERSENSITIVITY VASCULITIS
- ONLINE REFERENCES
- 34 - Polyarteritis Nodosa
- INTRODUCTION
- POLYARTERITIS NODOSA (SYSTEMIC)
- Definitions and Classification Criteria
- Epidemiology
- Etiology and Pathogenesis
- Clinical Features
- Laboratory Investigations
- Radiological and Other Investigations
- Management
- Outcome
- CUTANEOUS POLYARTERITIS NODOSA
- Treatment
- SUMMARY
- ONLINE REFERENCES
- 35 - Kawasaki Disease
- HISTORICAL BACKGROUND
- DEFINITION AND DIAGNOSTIC CRITERIA
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- GENETIC BACKGROUND
- CLINICAL MANIFESTATIONS
- Disease Course
- Other Clinical Manifestations of Kawasaki Disease
- DIFFERENTIAL DIAGNOSIS
- PATHOLOGY
- LABORATORY EVALUATION
- TREATMENT
- General Approach
- Goals of Therapy
- Aspirin
- Intravenous Immunoglobulin
- Prediction of IVIG Resistance
- Corticosteroids
- TREATMENT OF IVIG RESISTANCE
- MONITORING CARDIAC STATUS
- DISEASE COURSE AND PROGNOSIS
- ONLINE REFERENCES
- 36 - Antineutrophil Cytoplasmic Antibody Associated Vasculitis
- ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES
- GRANULOMATOSIS WITH POLYANGIITIS
- Classification
- Epidemiology
- Pathogenesis
- Clinical Manifestations
- Diagnosis
- Laboratory Examination
- Pathology
- Imaging
- Treatment
- Remission Maintenance
- Localized Disease
- Refractory Vasculitis
- Disease Measurement Tools
- Clinical Course and Outcome
- MICROSCOPIC POLYANGIITIS
- Definition and Disease Classification
- Epidemiology
- Pathogenesis
- Clinical Manifestations
- Pathology
- Diagnosis and Differential Diagnosis
- Laboratory Examination
- Treatment
- Course of the Disease and Prognosis
- Definition and Disease Classification
- Epidemiology
- Pathogenesis
- Clinical Manifestations
- Pathology
- Diagnosis and Differential Diagnosis
- Laboratory Examination
- Imaging
- Treatment
- Course of the Disease and Prognosis
- ONLINE REFERENCES
- 37 - Takayasu Arteritis and Other Vasculitides
- TAKAYASU ARTERITIS
- Definition and Classification
- Epidemiology
- Etiology, Genetic Factors, and Pathogenesis
- Clinical Manifestations
- Laboratory Investigations
- Pathology
- Imaging Findings
- Disease Assessment Tools
- Treatment
- Course and Prognosis
- COGAN SYNDROME
- Etiology and Pathogenesis
- Clinical Manifestations
- Investigations
- Differential Diagnosis
- Treatment
- Course and Outcome
- IMMUNE COMPLEX SMALL-VESSEL VASCULITIS
- Antiglomerular Basement Membrane Disease
- Cryoglobulinemic Vasculitis
- Urticarial Vasculitis
- Vasculitis in Juvenile Idiopathic Arthritis
- Familial Mediterranean Fever, Monogenic Autoinflammatory Diseases, and Vasculitis
- Paraneoplastic Vasculitis
- VASCULITIS ASSOCIATED WITH PROBABLE ETIOLOGY
- Viral-Induced Vasculitis293
- Bacterial and Other Infections
- Cystic Fibrosis
- OTHER VASCULITIDES, VASCULOPATHIES
- Acute Hemorrhagic Edema of Infancy
- Erythema Elevatum Diutinum
- Soter Syndrome (Cutaneous Necrotizing Venulitis)
- Livedoid Vasculopathy
- Susac Syndrome (Retinocochleocerebral Vasculopathy)
- Mucha-Habermann Disease
- Stevens-Johnson Syndrome
- MIMICS OF VASCULITIS
- Buerger Disease (Thromboangiitis Obliterans)
- Schamberg Purpura (Pigmented Purpuric Dermatosis)
- Chilblains/Pernio
- Reactions to Drugs that Mimic Vasculitis
- ONLINE REFERENCES
- 38 - Behçet Disease
- INTRODUCTION AND HISTORICAL REVIEW
- DEFINITIONS AND CLASSIFICATIONS
- EPIDEMIOLOGY
- Incidence and Prevalence
- Sex Ratio and Age at Onset
- GENETIC BACKGROUND
- ETIOLOGY AND PATHOGENESIS
- CLINICAL MANIFESTATIONS
- Mucocutaneous Disease
- Ocular Disease
- Central Nervous System Disease
- Musculoskeletal Disease
- Vascular Disease
- Gastrointestinal Disease
- Renal Disease
- Other Uncommon Manifestations
- PATHOLOGY
- LABORATORY INVESTIGATIONS
- RADIOLOGICAL EXAMINATIONS
- DIFFERENTIAL DIAGNOSIS
- TREATMENT
- Oral and Genital Ulcers
- Ocular Inflammation
- Treatment of Other Manifestations
- COURSE OF DISEASE AND PROGNOSIS
- ONLINE REFERENCES
- V - Immune System Dysfunction: Autoinflammation and Immunodeficiency
- 39 - Periodic Fever Syndromes and Other Inherited Autoinflammatory Diseases
- HEREDITARY AUTOINFLAMMATORY SYNDROMES
- Familial Mediterranean Fever
- Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
- Mevalonate Kinase Deficiency
- NLRP3-Associated Autoinflammatory Disease
- FCAS (NLRP3-AID Mild)
- Muckle-Wells Syndrome (NLRP3-AID Moderate)
- NOMID/CINCA (NLRP3-AID Severe)
- Periodic Fever Resulting from Cyclic Hematopoiesis
- Deficiency of the Interleukin-1 Receptor Antagonist
- Deficiency of Interleukin Thirty-Six Receptor Antagonist
- STING-Associated Vasculopathy with Onset in Infancy
- Haploinsufficiency of A20
- NLRC4 Macrophage Activation Syndrome/Syndrome of Enterocolitis and Autoinflammation Associated with Mutation in NLRC4
- Deficiency of Adenosine Deaminase 2
- The Future of Autoinflammatory Diseases
- ONLINE REFERENCES
- 40 - Autoinflammatory Bone Diseases
- Autoinflammatory Bone Diseases
- Overview
- CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS
- Overview
- Nomenclature
- Incidence, Geographical, and Racial Distribution
- Age at Onset and Sex Ratio
- Etiology and Pathogenesis
- Clinical Manifestations of CNO/CRMO
- Diagnostic Imaging Studies
- Histology
- Associated Inflammatory Conditions
- Serum Biomarkers
- Differential Diagnosis
- Treatment
- GENETIC AUTOINFLAMMATORY SYNDROMES WITH BONE INFLAMATION
- Majeed Syndrome
- Deficiency of the Interleukin-1 Receptor Antagonist
- Cherubism
- Summary
- ONLINE REFERENCES
- 41 - Pediatric Sarcoidosis
- EPIDEMIOLOGY
- ETIOPATHOGENESIS
- PATHOLOGY
- CLINICAL FEATURES
- Sarcoidosis Associated with NOD2 Mutation
- Sarcoidosis Without NOD2 Mutation
- Secondary Granulomatous Inflammatory Diseases
- DIAGNOSIS
- Laboratory Parameters
- PATHOLOGY
- GENETIC TESTING
- DIFFERENTIAL DIAGNOSIS
- PROGNOSIS
- TREATMENT
- ONLINE REFERENCES
- 42 - Macrophage Activation Syndrome
- DEFINITION
- EPIDEMIOLOGY
- TRIGGERS
- GENETIC BACKGROUND
- PATHOPHYSIOLOGY
- CLINICAL FEATURES
- TISSUE HISTOLOGY
- DIAGNOSIS
- DIFFERENTIAL DIAGNOSIS
- TREATMENT
- PROGNOSIS
- ONLINE REFERENCES
- 43 - Primary Immunodeficiencies and Rheumatic Diseases
- INTRODUCTION
- OVERVIEW OF THE INBORN ERRORS OF IMMUNITY
- INFECTION-DRIVEN APPROACH
- Antibody Deficiencies
- T-Cell Deficiencies
- Complement Deficiencies
- Myeloid Immunodeficiencies
- Natural Killer Cell Deficiencies
- Somatic Tissue Immune Deficiencies
- Arthritis
- SLE and SLE-Like Phenotype
- Inflammatory Skin Disorders and Vasculitis/Vasculopathy
- Complex, Multiorgan Autoimmune/Autoinflammatory Phenotype
- CONCLUSION
- ONLINE REFERENCES
- VI - Infection Related Rheumatic Disorders
- 44 - Infectious Arthritis and Osteomyelitis
- SEPTIC ARTHRITIS
- Definition and Classification
- Epidemiology
- Pathogenesis and Risk Factors
- Causative Agents
- Clinical Manifestations
- Diagnosis
- Treatment
- Neonatal Septic Arthritis
- Septic Hip Joint
- Gonococcal Arthritis
- Mycobacterial Arthritis
- Arthritis Associated with Brucellosis
- Arthritis Associated with Mycoplasma Infection
- Arthritis Associated with Bartonella Infection
- Whipple Disease
- ARTHRITIS CAUSED BY VIRUSES
- Rubella Virus
- Parvovirus
- Hepatitis B Virus
- Hepatitis C Virus
- Arboviruses
- Herpes Viruses
- Mumps Virus
- Human Immunodeficiency Virus
- Other Viruses
- ARTHRITIS ASSOCIATED WITH OTHER ORGANISMS
- Fungi
- Spirochetes
- Parasites
- ARTHRITIS AND SYSTEMIC BACTERIAL INFECTIONS
- COURSE AND PROGNOSIS OF SEPTIC ARTHRITIS
- OSTEOMYELITIS
- Definition and Classification
- Epidemiology
- Etiology
- Pathogenesis
- Clinical Manifestations
- Diagnosis
- Treatment
- Course and Prognosis of Osteomyelitis
- Pyogenic Diskitis and Spondylodiskitis
- REFERENCES
- 45 - Lyme Disease
- EPIDEMIOLOGY
- Geographical Distribution
- Incidence and Prevalence
- Sex Ratio and Age at Onset
- GENETIC BACKGROUND
- ETIOLOGY AND PATHOGENESIS
- Etiology
- Microbiology
- Pathogenesis
- Pathogenesis of Post-Antibiotic Lyme Arthritis
- CLINICAL MANIFESTATIONS
- Cutaneous Disease
- Nervous System Disease: Neuroborreliosis
- Musculoskeletal Disease
- Other Manifestations
- LABORATORY EXAMINATION
- Nonspecific Abnormalities
- Confirmation of Infection with Borrelia burgdorferi
- DIAGNOSIS
- TREATMENT
- Early Disease
- Arthritis Treatment
- Outcomes
- Coinfections
- PREVENTION
- REFERENCES
- 46 - Reactive Arthritis
- REACTIVE ARTHRITIS AFTER ENTERIC AND GENITOURINARY INFECTIONS
- CLASSIFICATION AND DIAGNOSTIC CRITERIA
- EPIDEMIOLOGY
- GENETIC BACKGROUND
- PATHOGENESIS
- CLINICAL MANIFESTATION
- Characteristics of the Primary Infection
- MUSCULOSKELETAL MANIFESTATIONS
- Constitutional Signs and Symptoms
- MUCOCUTANEOUS AND OCULAR DISEASE
- LABORATORY EXAMINATION
- IMAGING STUDIES
- DIFFERENTIAL DIAGNOSIS
- TREATMENT
- Prevention
- TREATMENT OF THE PRECIPITATING INFECTION
- TREATMENT OF REACTIVE ARTHRITIS
- Physical Therapy and Rehabilitation
- Orthopedic Surgery
- COURSE OF THE DISEASE AND PROGNOSIS
- REACTIVE ARTHRITIS AFTER STREPTOCOCCAL INFECTION
- Acute Rheumatic Fever
- Epidemiology
- Clinical Manifestations
- Major Manifestations
- Pathology
- Diagnosis: 2015 Criteria
- Differential Diagnosis
- Treatment
- POSTSTREPTOCOCCAL REACTIVE ARTHRITIS
- Definition and Classification
- Epidemiology
- Etiology and Pathogenesis
- Genetic Background
- Clinical Manifestations
- Diagnosis and Differential Diagnosis
- Laboratory Evaluation
- Treatment
- Course of the Disease and Prognosis
- ONLINE REFERENCES
- VII - Rheumatic Manifestations of Non-Rheumatic Disorders
- 47 - Skeletal Malignancies and Related Disorders
- INTRODUCTION
- PRIMARY MALIGNANT DISEASE OF BONE MARROW
- Leukemia
- TUMORS OF BONE
- Benign Tumors of Bone
- Malignant Tumors of Bone
- TUMORS OF CARTILAGINOUS ORIGIN
- Benign Cartilage Tumors
- Malignant Cartilage Tumors
- TUMORS OF FIBROUS TISSUE
- Benign Fibrous Tissue Tumors
- Malignant Tumors of Fibrous Tissue
- TUMORS OF MUSCULOSKELETAL SOFT TISSUES
- Benign Tumors of Soft Tissues
- Malignant Tumors of Soft Tissue
- MALIGNANT DISEASES METASTASIZING TO BONE
- Neuroblastoma
- Hypertrophic Pulmonary Osteoarthropathy
- BENIGN TUMORS OF MISCELLANEOUS ORIGIN
- Unicameral Bone Cysts
- Aneurysmal Bone Cysts
- Giant Cell Tumors
- Langerhans Cell Histiocytosis
- SUMMARY
- ONLINE REFERENCES
- 48 - The Impact of Rheumatic Diseases and Their Treatment on Bone Strength Development in Childhood
- NORMAL SKELETAL COMPOSITION
- PHYSIOLOGY OF THE DEVELOPING SKELETON
- Genetic Determinants of Bone Mass
- Calcium-Regulating Hormones
- OSTEOPOROSIS IN PEDIATRIC RHEUMATIC DISORDERS: CLINICAL MANIFESTATIONS AND RISK FACTORS
- Mechanisms of Bone Strength Loss in Pediatric Rheumatic Disorders
- Disease-Specific Clinical Manifestations
- DIAGNOSIS AND MONITORING OF OSTEOPOROSIS IN PEDIATRIC RHEUMATIC DISORDERS
- Definition and Diagnosis of Osteoporosis in Childhood
- Diagnostic Techniques
- IMPACT OF MEDICAL THERAPIES ON SKELETAL HEALTH IN CHILDHOOD
- The Prevention and Treatment Effect of Medical Therapies Used for JIA
- FUTURE DIRECTIONS
- ONLINE REFERENCES
- 49 - Skeletal Dysplasias
- BACKGROUND
- INTRODUCTION
- HISTORY AND PHYSICAL EXAMINATION
- DIAGNOSTIC IMAGING
- BIOCHEMICAL INVESTIGATIONS
- CARTILAGE HISTOLOGY
- MOLECULAR BASIS
- CONCLUSION
- ONLINE REFERENCES
- 50 - Noninflammatory Musculoskeletal Pain
- PAIN ASSOCIATED WITH HYPERMOBILITY
- Generalized Hypermobility
- Pes Planus
- PAIN ASSOCIATED WITH HYPOMOBILITY
- COMMON OVERUSE INJURIES
- Lower Extremity
- Upper Extremity
- Disorders of the Trunk
- DEVELOPMENTAL CONDITIONS
- Legg-Calvé-Perthes Disease
- Slipped Capital Femoral Epiphyses
- Bipartite Patella
- Sesamoid Pathology
- Accessory Bones of the Foot
- MISCELLANEOUS
- Traumatic Arthritis
- Chondrolysis
- Femoral Acetabular Impingement
- Growing Pains
- Restless Legs Syndrome
- Carpal Tunnel Syndrome
- Cervical Neuropraxia
- Neuralgic Amyotrophy
- ONLINE REFERENCES
- 51 - Musculoskeletal Manifestations of Inflammatory Bowel Disease
- DEFINITION AND CLASSIFICATION
- EPIDEMIOLOGY
- ETIOLOGY AND PATHOGENESIS
- Genetic Background
- Gut Inflammation and the Microbiome
- CLINICAL MANIFESTATIONS
- Peripheral Arthropathies
- Axial Arthropathy
- Other Rheumatic Manifestations in IBD
- IBD DIAGNOSTIC CLUES
- TREATMENT AND DISEASE COURSE
- CONCLUDING REMARKS
- ONLINE REFERENCES
- 52 - Musculoskeletal Manifestations of Systemic Disease
- DISORDERS RELATED TO VITAMIN DEFICIENCY OR EXCESS
- Rickets and Osteomalacia
- Scurvy
- Hypervitaminosis A
- Kashin-Beck Disease
- Mseleni Joint Disease
- Fluorosis
- METABOLIC DISEASES
- Abnormalities of Uric Acid Metabolism
- Glucose-6-Phosphatase Deficiency
- Calcium Pyrophosphate Deposition Disease
- Ochronosis
- Hyperlipoproteinemia
- Sphingolipidoses
- HEMATOLOGICAL DISORDERS
- Hemoglobinopathies
- Hemophilia
- ENDOCRINE AND EXOCRINE GLANDS
- Diabetes Mellitus
- Pancreatitis with Arthritis
- Disorders of Other Endocrine Glands
- CYSTIC FIBROSIS
- CELIAC DISEASE
- HYPEROSTOSIS
- Primary Hyperostosis
- Secondary Hyperostosis
- ONLINE REFERENCES
- 53 - Pain Amplification Syndromes
- EVALUATION OF MUSCULOSKELETAL PAIN
- History and Physical Examination
- LABORATORY EXAMINATION
- AMPLIFIED MUSCULOSKELETAL PAIN
- HISTORICAL REVIEW
- DEFINITION AND CLASSIFICATION
- EPIDEMIOLOGY
- Age at Onset
- Sex Ratio
- Geographical and Racial Distribution
- ETIOLOGY AND PATHOGENESIS
- GENETIC BACKGROUND
- CLINICAL MANIFESTATIONS
- General Features
- Associated Symptoms and Signs
- THE IMPACT OF CHRONIC MUSCULOSKELETAL PAIN ON THE CHILD AND FAMILY
- PATHOLOGY
- LABORATORY EXAMINATION IN AMPLIFIED PAIN
- RADIOGRAPHIC EXAMINATION IN AMPLIFIED PAIN
- TREATMENT
- Education
- Psychological Therapies
- Physical and Occupational Therapies
- Pharmacotherapy
- Miscellaneous
- Sleep
- NATURAL HISTORY AND LONG-TERM OUTCOMES
- CONCLUSION
- ONLINE REFERENCES
- 54 - Primary Disorders of Connective Tissue
- INTRODUCTION
- Syndromes Associated with Joint Hypermobility
- Syndromes Associated with Joint Hypomobility
- Disorders That May Mimic Arthritis
- Disorders Characterized by Lytic Bone Lesions
- ONLINE REFERENCES
- INDEX
- A
- B
- C
- D
- E
- F
- G
- H
- I
- J
- K
- L
- M
- N
- O
- P
- Q
- R
- S
- T
- U
- V
- W
- X
- Y
- Z
- IBC
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