THREE-DIMENSIONAL MODELING

Course objectives

The course is meant to provide the fundamental understanding of the molecular basis of human diseases. By the end of the course, the student must: - Know the etiology and the pathogenic mechanisms of human diseases, and the fundamental pathophysiological mechanisms concerning the main organs and systems. - Be able to analyze and to interpret the fundamental etiopathogenic and pathophysiological mechanisms of human diseases. - Be aware that being able to analyze and interpret the fundamental etiopathogenic and pathophysiological mechanisms will be essential for a correct clinical approach to human diseases. MED/04 Learning outcomes: By the end of the I semester, the student will have to: • know the main biochemical and cellular mechanisms of human diseases in environmental, molecular and genetic pathology; • know the basic pathogenetic mechasnims of acute and chronic inflammatory processes and the integrated network of immune cells and chemical mediators; • have the knowledge of the etiopathogenesis of storage diseases • know the fundamental mechanisms involved in the pathogenesis of cell injury and the positive and negative contributing factors to its resolution . • be able to apply the knowledge of the basic mechanisms of pathogenesis for the clinical approach to human diseases. MED/03 Learning outcomes: By the end of the I semester the student will have to • Know the basic principles of inheritance, genetic and chromosomal diseases and the classifications of hereditary diseases. • Understand the epidemiological and statistical principles of the main hereditary diseases • Know the main chromosomal, autosomal and X-linked diseases, and their genetic, molecular and clinical aspects.

Channel 1
GIANLUCA CANETTIERI Lecturers' profile

Program - Frequency - Exams

Course program
Content MED/03: Genetic diseases: classification and definitions. Main autosomal and X-linked, recessive and dominant Mendelian diseases. Cystic Fibrosis, SCID, familial dyslipidemia, hereditary dwarfism, Favism, Marfan syndrome, Duchenne muscular dystrophy, PKU and disorders of amino acid metabolism, OTC deficiency, Albright's rickets. Gene therapy (GT): methodology and main applications to human genetic diseases, GT with naked DNA, liposomes and viral vectors. Contents MED/04: Etiology: Main concepts of health, pathologic process and disease; etiology, pathogenesis, evolution, resolution (exitus). General environmental pathology. Pathology by physical and chemical agents. Biological agents of disease: bacterial exotoxins and endotoxins. Non-hereditary congenital disease. Teratogenesis. Molecular Pathology: Molecular pathology of proteins. Hemoglobinopathies. Pathology by enzyme deficiencies. Molecular pathology of the plasma membrane: receptors, channels, transduction mechanisms. Molecular pathology of the components of the connective tissue. Molecular pathology of mitochondria. Inflammation: The basics of inflammation, acute and chronic inflammation. Innate immunity and inflammation. Inflammation as a transcriptional program. Inflammatory cells. Chemical mediators of inflammation of cellular and plasma origins. Acute inflammation: the vascular phenomena of inflammation, the mechanisms of formation of exudate, the various types of exudative inflammation. Chronic inflammation: mechanisms of granuloma formation. Foreign-body granulomas. The main immunological granulomas. Systemic manifestations of inflammation: acute phase proteins, erythrocyte sedimentation rate, and leukocytosis. Pathophysiology of thermoregulation and fever. Tissue repair and granulation tissue. Pathological aspects of wound healing: keloids, scars. Pathology of cell structures: the cell's response to injury: cellular stress, cellular adaptations (hypertrophy, hyperplasia, atrophy, metaplasia), intracellular storage diseases (steatosis, lysosomal diseases). Molecular mechanisms of cellular damage. Cell death: necrosis and apoptosis. Renewal, regeneration and tissue repair. Growth factors. Aging. Abnormalities of the extracellular matrix: Beta-fibrillosis. Localized and systemic fibrosis. The diseases of collagen and other basement membrane components.
Books
Suggested textbooks: Pathologic Basis of Disease. Robbins & Cotran. Eight Edition. Editor: W B Saunders Co, 2009 Understanding pathophysiology. S. Huether, K. McCance. Elsevier, 2012 Cells, Tissues and Disease. Principles of general pathology. G. Majno, I. Joris. Oxford University Press, 2004. Rubin’s Pathology. Clinicopathologic foundation of medicine. Rubin & Straier. Lippincott Raven; 6 Har/Psc, ed. 2011. Updated bibliography will be communicated during the lectures
Frequency
Mandatory
Exam mode
Oral examination
  • Academic year2025/2026
  • CourseMedicine and Surgery
  • CurriculumSingle curriculum
  • Year3rd year
  • Semester1st semester
  • SSDMED/03
  • CFU1