Muscle Biopsy: A Practical Approach

Description:

For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive, clinically-focused coverage of the acquisition, interpretation, and assessment of muscle biopsies – an area often only lightly covered in pathology texts. Taking an integrated approach that includes clinical, genetic, biochemical, and pathological features, the 5th Edition covers the full range of muscle disease in both adults and children. This highly illustrated, easy-to-use volume helps you navigate this challenging area, bridging the gap between clinical syndromes/disorders and their underlying pathologies.

Fully updated 5^th edition of this internationally acclaimed classic in muscle pathology.

Written by internationally recognized world leaders in the field of muscle pathology.

Comprehensive coverage of histology, histochemistry, immunocytochemistry and electron microscopy in parallel with clinical and genetic advances.

Lavishly illustrated with over 600 full colour images.

Fully updated literature review.

Comprehensive update on the rapidly expanding field of neuromuscular disorders.

4^th edition Highly Commended in Pathology category of the prestigious 2014 BMA Medical Book Awards.

Table of Contents:

Section A. The Biopsy: Normal and Diseased Muscle

1. The Procedure of Muscle Biopsy

The Evolving Role of Muscle Pathology

The Procedure of Muscle Biopsy

Selection of the Patient

Selection of the Muscle

Technique of Biopsy

Preparation of Specimen

Cutting the Sections

Electron Microscopy

Specimen Preparation for Electron Microscopy

Resins

Immunohistochemistry

2. Histological and Histochemical Stains and Reactions

Histological Stains

Histochemical Reactions

Histological and Histochemical Methods

3. Normal Muscle

Histological Structure

Muscle Fibre Types

Histochemical Identification of Muscle Fibre Types

Ultrastructure of the Myofibre

Development of Human Muscle

4. Histological and Histochemical Changes

Changes in Fibre Shape and Size

Changes in Fibre Type Patterns

Changes in Sarcolemmal Nuclei

Degeneration and Regeneration

Fibrosis and Adipose Tissue

Cellular Reactions

Changes in Fibre Architecture and Structural Abnormalities

Deficiencies of Enzymes

Accumulation of Glycogen or Lipid

Accumulation of Amyloid

Common Artefacts in Muscle Biopsies

5. Ultrastructural Changes

Sarcolemma

Myofibrils and Associated Cytoskeleton

Z Line

Intermediate Filaments

Nucleus

Mitochondria

Membrane Systems

Deposits and Particles

Other Unusual Structures

6. Immunohistochemistry and Immunoblotting

Immunohistochemistry

Methods for Immunohistochemistry

Baselines for Interpretation

Use of Tissues Other Than Muscle

Pathological Features of Diseased Muscle

Immunohistochemistry of Other Tissue Components

Immunoblotting

Quantification

Panel of Antibodies to Apply

7. How to Read a Biopsy

Part I

Part II

Part III

Part IV

Part V

Section B. Pathological Muscle: Individual Diseases

8. Classification of Neuromuscular Disorders

9. Neurogenic Disorders

General Pathological Features of Denervated Muscle

Spinal Muscular Atrophy

Histology and Histochemistry

10. Muscular Dystrophies and Allied Disorders I: Duchenne and Becker Muscular Dystrophy

Background

Clinical Features

Histology and Histochemistry

Immunohistochemistry

Carriers of Duchenne and Becker Muscular Dystrophy

Therapies for Duchenne Muscular Dystrophy

11. Muscular Dystrophies and Allied Disorders II: Limb-Girdle Muscular Dystrophies

History and Background

Histology and Histochemistry

Immunohistochemistry

12. Muscular Dystrophies and Allied Disorders III: Congenital Muscular Dystrophies and Associated Disorders

History and Background

General Pathological Features of Congenital Muscular Dystrophies

Congenital Muscular Dystrophies Associated with Sarcolemmal Proteins

Congenital Muscular Dystrophies Associated with Abnormal Glycosylation of α-Dystroglycan

Rigid Spine with Muscular Dystrophy (RSMD1)

Congenital Muscular Dystrophies Associated with Nuclear Membrane Proteins

Additional Forms of Congenital Muscular Dystrophy

13. Muscular Dystrophies and Allied Disorders IV: Emery–Dreifuss Muscular Dystrophy and Similar Syndromes

Clinical Features

Molecular Genetics

Biochemistry

Histopathology

Immunohistochemistry

Electron Microscopy

Other Emery–Dreifuss-Like Syndromes

14. Muscular Dystrophies and Allied Disorders V: Facioscapulohumeral, Myotonic and Oculopharyngeal Muscular Dystrophies

Facioscapulohumeral Muscular Dystrophy

Myotonic Dystrophies

Oculopharyngeal Muscular Dystrophy

15. Congenital Myopathies and Related Disorders

Introduction

Myopathies with Structural Defects

Core Myopathies

Nemaline Myopathies

Myotubular/Centronuclear Myopathies

Titin-related Congenital Myopathy

Sarcotubular Myopathy

Surplus Protein Myopathies

Cap Disease

Spheroid Body Myopathy

Reducing Body Myopathy

Congenital Fibre Type Disproportion

Congenital Myopathies with Other Ultrastructural Abnormalities

Novel Rare Congenital Myopathies

Congenital Myopathies Characterized by Distal Involvement and/or Distal Arthrogryposis

16. Myofibrillar Myopathies and Other Myopathies with Rimmed Vacuoles

Introduction

Myofibrillar Myopathies

Other Myopathies with Autophagic Vacuoles and/or Protein Aggregates

17. Metabolic Myopathies I: Glycogenoses

Type II Glycogenosis (Pompe Disease, Acid Maltase Deficiency)

Type III Glycogenosis (Debrancher Enzyme Deficiency)

Type IV Glycogenosis (Branching Enzyme Deficiency)

Type V Glycogenosis (McArdle Disease)

Type VII Glycogenosis (Phosphofructokinase Deficiency)

Type XIV Glycogenosis (Phosphoglucomutase 1 Deficiency)

Type 0 Glycogenosis (Glycogen Synthase Deficiency)

Type XV Glycogenosis (Glycogenin-1 Deficiency)

RBCK1 (HOIL-1) Deficiency

Other Glycogenoses with Neuromuscular Symptoms

18. Metabolic Myopathies II: Lipid-Related Disorders and Mitochondrial Myopathies

Disorders of Muscle Lipid Metabolism

Mitochondrial Myopathies

19. Myopathies Associated with Systemic Disorders and Ageing

Endocrine Disorders

Disorders of the Thyroid

Disorders of the Pituitary and Adrenals

Insulin-Associated Disorders

Disorders of the Parathyroids, Osteomalacia and Vitamin Deficiencies

Malignancy

Amyloidosis

Ageing and Cachexia

20. Ion Channel Disorders

Syndromes with Non-Dystrophic Myotonia

Periodic Paralysis Syndromes

Disorders Associated with Calcium Homeostasis

Malignant Hyperthermia

Myoglobinuria/Rhabdomyolysis

21. Myasthenic Syndromes

Myasthenia Gravis

Lambert–Eaton Syndrome

Acquired Neuromyotonia

Congenital Myasthenic Syndromes

22. Inflammatory Myopathies

Dermatomyositis

Antisynthetase Syndrome

Inclusion Body Myositis

Immune-Mediated Necrotizing Myopathy

Granulomatous Myositis

Focal Myositis

Macrophage Myofasciitis

23. Toxic and Drug-Induced Myopathies

Classification

Necrosis and Rhabdomyolysis

Inflammation

Mitochondrial Myopathy

Myosin Heavy Chain Loss (Critical Illness Myopathy)

Type 2 Fibre Atrophy

Vacuolar Myopathies

Neuromyopathy

Focal Myopathy

Appendix 1. Glossary of Genetic Terms

Appendix 2. Useful Websites

Index