Biology of Disease

CONTENTS

• Chapter 1: The Nature and Investigation of Diseases Glossary xix


• 1.1 Introduction


• 1.2 Characteristic Features of Diseases
  
  
  • Etiology
  
  
  • Pathogenesis
  
  
  • Manifestations of Diseases
  
  
  • Outcome of a Disease
  
  
  
  


• 1.3 Classification of Diseases


• 1.4 Epidemiology of Disease


• 1.5 Investigating Diseases


• 1.6 Types of Pathology Laboratories


• 1.7 Role of Hospital Laboratory Tests


• 1.8 Hospital Laboratory Tests


• 1.9 Evaluation of Laboratory Tests


• 1.10 Reference Ranges


• 1.11 Quality of Test Results and Clinical Auditing


• 1.12 Summary


• Further Reading


• Chapter 2: Pathogens and Virulence


• 2.1 Introduction


• 2.2 Types of Pathogens
  
  
  • Prions
  
  
  • Viruses
  
  
  • Bacteria
  
  
  • Protozoa, Fungi and Helminths
  
  
  • Arthropods and Vertebrates
  
  
  
  


• 2.3 Virulence Factors
  
  
  • Defensive Virulence Factors
  
  
  • Offensive Virulence Factors
  
  
  
  


• 2.4 Course of Infection


• 2.5 Summary


• Further Reading


• Chapter 3: Infectious Diseases and Treatments


• 3.1 Introduction


• 3.2 Infections of the Skin


• 3.3 Infections of the Eyes, Ears and Central Nervous System


• 3.4 Infections of the Respiratory System


• 3.5 Infections of the Gastrointestinal Tract


• 3.6 Infections of the Urogenital System


• 3.7 Sepsis and Systemic Infections


• 3.8 Investigating Infectious Diseases
  
  
  • Culture
  
  
  • Serological Tests
  
  
  • Biochemical and Molecular Biological Techniques
  
  
  
  


• 3.9 Preventing Infectious Diseases


• 3.10 Controlling the Spread of Pathogens


• 3.11 Treatment of Infectious Diseases
  
  
  • Antiviral Drugs
  
  
  • Antibacterial Drugs
  
  
  • Antifungal, Antiprotozoal and Antihelminthic Drugs
  
  
  • Combination Therapy
  
  
  • Surgery
  
  
  
  


• 3.12 Summary


• Further Reading


• Chapter 4: The Immune System


• 4.1 Introduction


• 4.2 Types of Immune Defense


• 4.3 Nonspecific Defenses
  
  
  • Interferons
  
  
  • Complement
  
  
  • Nonspecific Cells
  
  
  • Mononuclear Leukocytes
  
  
  • Inflammation and the Acute Phase Response
  
  
  
  


• 4.4 Specific Immune Responses
  
  
  • Roles of Humoral and Cell-Mediated Immunity
  
  
  • Humoral Immunity
  
  
  • Cell-Mediated Immunity
  
  
  
  


• 4.5 Small Lymphocytes


• 4.6 Production of a Specific Immune Response
  
  
  • Humoral Immunity
  
  
  
  


• 4.7 Summary


• Further Reading


• Chapter 5: Disorders of the Immune System


• 5.1 Introduction


• 5.2 Immunodeficiency Diseases
  
  
  • Primary Immunodeficiency Disease
  
  
  
  


• 5.3 Autoimmune Disorders
  
  
  • Classification of Autoimmune Disorders
  
  
  • Autoimmune Disorders Affecting Endocrine Glands
  
  
  • Antiglomerular Basement Membrane Disease
  
  
  • Myasthenia Gravis
  
  
  • Rheumatoid Arthritis
  
  
  • Systemic Lupus Erythematosus
  
  
  
  


• 5.4 Immunological Hypersensitivity
  
  
  • Type I Hypersensitivity
  
  
  • Type II Hypersensitivity
  
  
  • Type III Hypersensitivity
  
  
  • Type IV Delayed Type Hypersensitivity
  
  
  
  


• 5.5 Summary


• Further Reading


• Chapter 6: Transfusion and Transplantation


• 6.1 Introduction


• 6.2 Blood and Blood Products for Transfusion


• 6.3 The Discovery of the Blood Group Systems


• 6.4 The ABO Blood Group System (ISBT 001)
  
  
  • The Antigens of the ABO System
  
  
  • Antibodies of the ABO Blood Group System
  
  
  • Consequences of ABO Incompatible Transfusions
  
  
  
  


• 6.5 The Rh Blood Group System (ISBT 004)
  
  
  • Hemolytic Disease of the Newborn
  
  
  
  


• 6.6 Other Blood Group Systems


• 6.7 Laboratory Determination of Blood Groups


• 6.8 Role of Complement in Transfusion Reactions


• 6.9 Hazards of Transfusion
  
  
  • Transfusion Related Acute Lung Injury
  
  
  • Iron Overload
  
  
  • Alloimmunization
  
  
  • Graft versus Host Disease
  
  
  • Infections
  
  
  
  


• 6.10 Screening of Blood Donors


• 6.11 Transplantation of Solid Tissues and Organs
  
  
  • Immunological Rejection of Transplants
  
  
  • Causes of Graft Rejection
  
  
  
  


• 6.12 The HLA System
  
  
  • HLA Typing
  
  
  
  


• 6.13 Immunosuppression


• 6.14 Hemopoietic Stem Cell Transplantation
  
  
  • Bone Marrow Transplantation
  
  
  • Peripheral Blood Stem Cell Transplantation
  
  
  • Umbilical Cord Stem Cell Transplantation
  
  
  • Identification of Hemopoietic Stem Cells
  
  
  
  


• 6.15 Summary


• Further Reading


• Chapter 7: Disorders of the Endocrine System


• 7.1 Introduction


• 7.2 Hormone Production


• 7.3 Mechanisms of Hormonal Action


• 7.4 Causes of Endocrine Disorders


• 7.5 The Pituitary Gland
  
  
  • Disorders of Pituitary Function
  
  
  
  


• 7.6 Growth Hormone Disorders
  
  
  • Diagnosis and Treatment of Growth Hormone Disorders
  
  
  
  


• 7.7 Thyroid Hormone Disorders
  
  
  • Diagnosis and Treatment of Thyroid Disorders
  
  
  
  


• 7.8 Regulation of Blood Glucose
  
  
  • Diabetes Mellitus
  
  
  • Hypoglycemia
  
  
  
  


• 7.9 Disorders of the Adrenal Cortex
  
  
  • Addison’s Disease
  
  
  • Cushing’s Syndrome
  
  
  • Congenital Adrenal Hyperplasia
  
  
  • Conn’s Syndrome
  
  
  
  


• 7.10 Reproductive Hormones
  
  
  • Disorders of Sex Hormones
  
  
  
  


• 7.11 Summary


• Further Reading


• Chapter 8: Disorders of Water, Electrolytes and Urate Balances


• 8.1 Introduction


• 8.2 Kidneys
  
  
  • Renal Function Tests
  
  
  • Renal Failure
  
  
  
  


• 8.3 Disorders of Water Homeostasis


• 8.4 Disorders of Na+Homeostasis


• 8.5 Disorders of K+Homeostasis


• 8.6 Disorders of Ca2+Homeostasis


• 8.7 Disorders of Phosphate Homeostasis


• 8.8 Disorders of Mg2+Homeostasis


• 8.9 Disorders of Urate Metabolism


• 8.10 Summary


• Further Reading


• Chapter 9: Disorders of Acid–Base Balance


• 9.1 Introduction


• 9.2 The Production and Transport of Carbon Dioxide


• 9.3 Buffering and the Excretion of H+


• 9.4 Types of Acid–Base Disorders
  
  
  • Metabolic Acid–Base Disorders
  
  
  • Respiratory Acid–Base Disorders
  
  
  • Mixed Acid–Base Disorders
  
  
  
  


• 9.5 Investigating Acid–Base Disorders


• 9.6 Summary


• Further Reading


• Chapter 10: Diet and Disease


• 10.1 Introduction


• 10.2 Diet and Nutrition
  
  
  • Nutrients and Energy
  
  
  • Carbohydrates
  
  
  • Lipids
  
  
  • Proteins
  
  
  • Water
  
  
  • Vitamins
  
  
  • Minerals and Trace Elements
  
  
  
  


• 10.3 Nutritional Disorders
  
  
  • Protein-Energy Malnutrition
  
  
  • Obesity
  
  
  • Anorexia Nervosa and Bulimia Nervosa
  
  
  • Disorders of Vitamin Nutrition
  
  
  • Nutritional Disorders of Minerals and Trace Elements
  
  
  
  


• 10.4 Investigating Nutritional Disorders
  
  
  • Protein-Energy Malnutrition
  
  
  • Obesity
  
  
  • Anorexia Nervosa and Bulimia Nervosa
  
  
  • Vitamins
  
  
  • Minerals and Trace Elements
  
  
  
  


• 10.5 General Management of Nutritional Disorders


• 10.6 Summary


• Further Reading
  
  
  • Gall Bladder Chapter 11: Disorders of the Gastrointestinal Tract, Pancreas, Liver and
  
  
  
  


• 11.1 Introduction


• 11.2 The Gastrointestinal Tract and its Accessory Organs


• 11.3 Digestion
  
  
  • Mouth
  
  
  • Stomach
  
  
  • Small Intestine
  
  
  
  


• 11.4 Absorption of the Products of Digestion


• 11.5 Activities of the Large Intestine


• 11.6 The Small Intestine and Homeostasis


• 11.7 Hormonal Control of GIT Secretions


• 11.8 Disorders of the GIT and Accessory Organs
  
  
  • Disorders of the Exocrine Pancreas
  
  
  • Disorders of the Liver, Gall Bladder and Bile Duct
  
  
  • Disorders of the Stomach
  
  
  • Disorders of the Small Intestine
  
  
  • Disorders of the Large Intestine
  
  
  
  


• 11.9 Summary


• Further Reading


• Chapter 12: Toxicology


• 12.1 Introduction


• 12.2 Drug Action, Metabolism, Distribution and Excretion


• 12.3 Physiological Detoxification Mechanisms


• 12.4 Symptomatic Poisoning


• 12.5 Common Poisons
  
  
  • Paracetamol
  
  
  • Aspirin
  
  
  • Ethanol
  
  
  • Methanol
  
  
  • Ethylene Glycol
  
  
  • Barbiturates
  
  
  • Carbon Monoxide
  
  
  • Paraquat
  
  
  • Metals
  
  
  
  


• 12.6 Summary


• Further Reading


• Chapter 13: Disorders of the Blood


• 13.1 Introduction


• 13.2 Blood Cells and Platelets


• 13.3 Hemoglobins
  
  
  • Key Properties of Hemoglobin
  
  
  • Embryonic and Fetal Hemoglobins
  
  
  
  


• 13.4 Hemostasis and Blood Clotting
  
  
  • The Intrinsic Pathway
  
  
  • The Extrinsic Pathway
  
  
  • Common Final Pathway
  
  
  • Prevention of Clotting
  
  
  • Dissolution of Clots
  
  
  
  


• 13.5 Anemias
  
  
  • Microcytic Anemias
  
  
  • Macrocytic Anemia
  
  
  
  


• 13.6 Hemoglobinopathies
  
  
  • Sickle Cell Anemia
  
  
  • The Thalassemias
  
  
  
  


• 13.7 Glucose 6-Phosphate Dehydrogenase Deficiency (G6PD)
  
  
  • Favism
  
  
  
  


• 13.8 Clinical Aspects of Clotting
  
  
  • Vitamin K and Anticoagulants
  
  
  • Hemophilia
  
  
  
  


• 13.9 Thrombocytopenia and Thrombocytosis


• 13.10 Summary


• Further Reading


• Chapter 14: Disorders of the Cardiovascular System


• 14.1 Introduction


• 14.2 The Heart and Circulatory Systems


• 14.3 Blood Vessels
  
  
  • Arteries
  
  
  • Veins
  
  
  • Capillaries
  
  
  
  


• 14.4 Blood Pressure


• 14.5 Investigating Cardiac Function in Health and Disease
  
  
  • The Electrocardiogram (ECG)
  
  
  • Echocardiography
  
  
  • Cardiac Catheterization (Angiography)
  
  
  • Angiography and Radiographic Visualization
  
  
  • Exercise Stress Test
  
  
  
  


• 14.6 Endocarditis


• 14.7 Abnormal Heart Rhythms
  
  
  • Atrial Fibrillation and Flutter
  
  
  • Ventricular Tachycardia
  
  
  • Ventricular Fibrillation
  
  
  • Heart Block
  
  
  
  


• 14.8 Cardic Failure
  
  
  • Investigation
  
  
  • Treatment
  
  
  • Chronic Heart Failure
  
  
  • Acute Heart Failure
  
  
  
  


• 14.9 Ischemic Heart Disease


• 14.10 Cardiomyopathies
  
  
  • Dilated Congestive Cardiomyopathy
  
  
  • Hypertrophic Cardiomyopathy
  
  
  • Restrictive Cardiomyopathy
  
  
  
  


• 14.11 Heart Valve Disorders


• 14.12 Heart Tumors


• 14.13 Atherosclerosis or Arteriosclerosis
  
  
  • Angina
  
  
  • Cholesterol and Lipoproteins
  
  
  
  


• 14.14 Myocardial Infarction
  
  
  • Plasma Enzymes in Myocardial Infarction
  
  
  • Treatment
  
  
  • Coronary Bypass Surgery
  
  
  
  


• 14.15 Pericardial Diseases


• 14.16 Disorders of Arteries and Veins
  
  
  • Peripheral Arterial Disease
  
  
  • Aneurysms
  
  
  • Aortic Dissection
  
  
  • Stroke
  
  
  • Varicose Veins
  
  
  • Deep Vein Thrombosis
  
  
  
  


• 14.17 Clinical Problems Associated with Blood Pressure
  
  
  • Low Blood Pressure (Hypotension)
  
  
  • Shock
  
  
  • High Blood Pressure (Hypertension)
  
  
  
  


• 14.18 Summary


• Further Reading


• Chapter 15: Genetic Diseases


• 15.1 Introduction


• 15.2 Genetics and DNA


• 15.3 DNA Replication and the Cell Cycle
  
  
  • Mitosis and Meiosis
  
  
  
  


• 15.4 Genotype and Phenotype


• 15.5 Inheritance and Mutations
  
  
  • Sex-linked Genetic Diseases
  
  
  
  


• 15.6 Inherited Gene Disorders
  
  
  • Consequences of an Enzyme Deficiency
  
  
  • National Screening Programs for Inherited Diseases
  
  
  
  


• 15.7 Chromosomes and the Human Karyotype
  
  
  • Fragile Sites
  
  
  
  


• 15.8 Chromosomal Mutations or Aberrations
  
  
  • Deletions
  
  
  • Duplications
  
  
  • Inversions
  
  
  • Translocations
  
  
  
  


• 15.9 Variations in Chromosome Numbers
  
  
  • Aneuploidy
  
  
  • Euploidy
  
  
  
  


• 15.10 Detecting, Diagnosing and Screening Human Genetics Diseases
  
  
  • Detection of Hereditary Diseases
  
  
  
  


• 15.11 Summary


• Further Reading


• Chapter 16: Membrane, Organelle and Cytoskeletal Disorders


• 16.1 Introduction


• 16.2 Nucleus and Nucleocytoplasmic Transport
  
  
  • Clinical Aspects of Nucleocytoplasmic Transport
  
  
  
  


• 16.3 Plasma Membrane Disorders
  
  
  • Cystic Fibrosis
  
  
  
  


• 16.4 Mitochondrial Disorders
  
  
  • Causes of Mitochondrial Disorders
  
  
  • Diagnosis and Treatment of Mitochondrial Disorders
  
  
  
  


• 16.5 Peroxisomal Disorders
  
  
  • Diagnosis and Treatment of Peroxisomal Disorders
  
  
  
  


• 16.6 Lysosomal Disorders
  
  
  • Diagnosis and Treatment of Lysosomal Storage Disorders
  
  
  
  


• 16.7 Cytoskeletal Disorders
  
  
  • Muscular Dystrophies
  
  
  • Hereditary Elliptocytosis and Spherocytosis
  
  
  
  


• 16.8 Summary


• Further Reading


• Chapter 17: Cancer


• 17.1 Introduction


• 17.2 Classification of Cancer Types


• 17.3 Epidemiology of Cancer


• 17.4 Molecular Biology of Cancer
  
  
  • Oncogenes
  
  
  • Tumor Suppressor Genes
  
  
  
  


• 17.5 Causes of Cancer
  
  
  • Inherited Cancers
  
  
  • Chromosomes and Cancer
  
  
  • Chemical Carcinogens
  
  
  • Diet and Cancer
  
  
  • Radiation and Cancer
  
  
  • Viruses and Cancer
  
  
  
  


• 17.6 General Diagnosis of Cancer
  
  
  • Clinical Tests for Cancer
  
  
  
  


• 17.7 General Treatment of Cancer
  
  
  • Chemotherapy
  
  
  • Radiation Therapy
  
  
  • Immunotherapy
  
  
  
  


• 17.8 Specific Types of Cancers
  
  
  • Lung Cancer
  
  
  • Breast Cancer
  
  
  • Prostate Cancer
  
  
  • Colorectal Cancer
  
  
  • Leukemias
  
  
  
  


• 17.9 Summary


• Further Reading


• Chapter 18: Aging and Disease


• 18.1 Introduction


• 18.2 Aging of Cells, Tissues, Organs and Systems
  
  
  • Cells
  
  
  • Tissues
  
  
  • Organs
  
  
  • Systems
  
  
  
  


• 18.3 Causes of Aging
  
  
  • ‘Wear and Tear’ Theories
  
  
  • Genome-Based Theories
  
  
  
  


• 18.4 Age-Related Diseases
  
  
  • Cancer
  
  
  • Cardiovascular Disease
  
  
  • Diabetes Mellitus Type
  
  
  • Cataracts
  
  
  • Arthritis
  
  
  • Parkinson’s Disease
  
  
  
  


• 18.5 Calorie Restriction and Aging


• 18.6 Investigations and Management of the Elderly


• 18.7 Summary


• Further Reading


• Case Study Discussions


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• Index