Learning outcomes of the course unit
In depth knowledge of the etio-pathogenetic factors that underlie the alterations of structures and functions involved in human disease at molecular, cellular, and whole-organism levels. In depth knowledge of the mechanisms involved in the response to tissue injury at different levels of integration.
The preventive attainment of the credits provided by the Courses of Biochemistry II, Human Anatomy, Physiology, Microbiology, Immunology is required before the exam.
Course contents summary
Introductory concepts. Health and homeostasis. Deviations from homeostasis. The etiology of tissue injury at molecular level. Extrinsic causes of disease: Physical causes; Chemical causes; Biological causes. Intrinsic causes of disease: Single-gene disorders with classic and non classic inheritance; Multifactorial diseases; Cytogenetic disorders.
Molecular pathology. Alterations of DNA, RNA, proteins. Mechanisms of DNA alterations. Extrinsic causes of DNA damage. Mechanisms of DNA repair. Mutations. RNA pathology. Alterations of proteins and protein misfolding. Functional consequences of protein alterations. Genotype and phenotype. Selected examples of genetic diseases: alterations of structural proteins; hemoglobinopathies and thalassemias, channelopathies and alterations of transporters, disorders of hormones and receptors, extracellular and intracellular accumulation of proteins.
Cellular pathology. Reversibile and irreversible cell injury. Adaptive mechanisms to cell injury: hypertrophy, hyperplasia, atrophy, metaplasia, dysplasia. Biotransformations: Phases of xenobiotic metabolism; Cytochromes P450, Metabolism of ethanol. Free radicals and disease: Production of ROS; Molecular and cellular targets of the oxidative stress; Scavenger enzymes and antioxidants. The ischemic-hypoxic stress: Mechanisms; Metabolic consequences; Reperfusion injury; The response to ischemic-hypoxic stress; Mechanisms of ischemic damage to the myocardium and to the central nervous system. Cell aging and its relationships with human disease. Progeroid syndromes. Cell death: Accidental cell death (oncosis); Programmed cell death (apoptosis and other types). Necrosis and post-necrotic changes.
Oncology. Definitions, nomenclature, epidemiology. Tumor etiology: Chemical carcinogenesis; Radiation cancerogenesis; DNA and RNA oncogenic viruses; Non-viral cancerogenesis from biological agents; Heredity and tumors. The cell cycle: control mechanisms and their alterations. Stem cells and cancer. Protooncogenes, oncogenes and oncoproteins. Oncosuppressor genes and their products. Altered DNA repair mechanisms and tumors. Defects of apoptosis and cancer. Intiation and promotion. Karyotipic alterations in tumors. The neoplastic cell. Tumor progression. Tumor angiogenesis. Invasivity. Metastasis.
Pathophysiology of tissue injury and repair. Etiological factors in tissue damage. Pathogenesis of nutritional disorders. Pathogenesis of infectious diseases. The response to tissue injury. Hemostasis: Phases and mechanisms; Hemorrhagic diseases due do defects in primary or secondary hemostasis. Consumption coagulopathies. Thrombosis, embolism, infarction. Innate immunity: Acute and chronic inflammation; Events, mechanisms, types and evolution of the inflammatory process; Chemical mediators of inflammation; Inflammatory lesions: abscesses, ulcers, granulomas; Systemic effects of inflammation: fever, acute phase response. Tissue repair and regeneration: Stem cells and tissue regeneration; Tissue repair and its alterations; Wound healing; Fibrosis. Atherosclerosis.
Pathophysiology of the homeostatic networks. Thermoregulation and its alterations. Metabolic disorders: Disorders of lipid metabolism: steatosis; lipid circulation; Disorders of purine metabolism; Metabolic alterations in diabetes; Disorders of porphirine metabolism (porphyrias, jaundice). Pathophysiology of blood and disorders of hemopoiesis. Edema. Shock. Disorders of iron and copper metabolism. Eating disorders and obesity. Pathophysiology of endocrine disorders.
Kumar, Abbas, Fausto, Aster. Robbins and Cotran Pathologic Basis of Disease. 8th Edition, Elsevier, 2009
Pontieri, Russo, Frati. Patologia Generale. IV Edizione. Piccin, 2010.
Majno and Joris. Cellule, Tessuti e Malattia. Principi di Patologia Generale. 2 edizione. CEA, Milano, 2009
Oral lessons will be supported by iconographic material that will be available on line at the end of the course
Assessment methods and criteria