General Pathology, Immunology and Medical Genetics

Introduction to the course - concept of aetiology and pathogenesis;
Infections: viruses, bacteria, dissemination;
Damage and cellular responses origins of cellular damage; reversible or irreversible cellular damage; general biological, biochemical and molecular mechanisms of cell damage; subcellular responses to cellular damage; cellular adaptations to damage or stress; cell death: Necrosis and Apoptosis;
Inflammation: acute inflammation: vascular changes, cellular events and their molecular bases; the chemistry of acute inflammation; correlation between biochemical aspects and morphological and functional events; inflammation as a systemic event: acute phase proteins, fever and other acute phase symptoms; chronic inflammation: morphological aspects, functional framework. Chronic inflammation: causes, cellular events, fibrosis.
Local and systemic response to damage: repair and regeneration; wound healing; acute phase response; temperature; shock; Oncology: definitions and morphological frameworks; benign and malignant neoplasms, staging and grading; epidemiology of tumors and risk factors; the role of inheritance; tumor etiology: chemical, physical and biological carcinogens; the stem cell theory of tumors; heterogeneity of tumors; metastases. Concept of oncogene and tumor suppressor; chromosomal translocations and fusion proteins; tumors on a hereditary basis;
Arguments of pathophysiology: colorectal carcinoma, celiac disease; diabetes mellitus; IBD-Inflammatory Bowel diseases (Crohn's disease, ulcerative colitis);
The microbiota: definition; diet and microbiota; physiological role of the microbiota; role of microbiota in human pathologies.
Characteristics of the immune system response: Specificity, memory, tolerance. Cells of adaptive immunity; primary and secondary lymphoid organs; maturation of lymphocytes.
T and B lymphocytes: antigen receptors and cellular targets. Cytotoxic T lymphocytes and killing mechanisms. Pro-inflammatory action of Th1 lymphocytes. Th2 lymphocytes and interaction with B lymphocytes. The humoral immune response
Antibodies: structure, isotypes, characteristics, and biological functions of the different classes of antibodies.
Antigen presentation Major histocompatibility complex.
Activation of the immune system.
Central and peripheral tolerance (clonal deletion, absence of co-stimulation, immunological ignorance and regulatory T lymphocytes).
Mucosal immunity: activation sites, effector sites and tolerance to oral antigens.
Immune-mediated diseases: hypersensitivity and eating disorders. Autoimmune diseases: failure of immunological tolerance, genetic and environmental causes. Examples: type I diabetes mellitus, Chron's disease, Graves' disease, myasthenia gravis, rheumatoid arthritis. Celiac disease.

1. Molecular basis for the study of human inheritance: chromosomes and chromatin; diploidy and haploidy; mitosis and meiosis, male and female gametogenesis
2. Mendelian genetics: Mendel's laws; concepts of genotype and phenotype, gene, allele, locus. Incomplete dominance and codominance
3. Inheritance in humans: simple and complex traits (diseases); representation of family trees; types of inheritance (examples of genetic diseases).
4. Molecular pathology: spontaneous and induced mutations (mention of the main types of mutagens); germline and somatic mutations; mosaicism; phenotypic effects of point mutations (missense, nonsense, frameshift and splicing mutations); mutation and polymorphism, examples of genetic pathologies
5. Human karyotype: morphology and classification of human chromosomes; karyotype analysis
6. Chromosomal aberrations. Number anomalies: polyploidies and aneuploidies. Inactivation of the X chromosome and PAR regions. Balanced and unbalanced chromosome structure anomalies.