Molecular and Cellular Basis of Diseases

1. Disease as an alteration of the normal state. Disease as a modification of the homeostasis.Disease, illness sickness. Syndrome. Etiology: the concept of "cause"" in pathology. Pathogenesis.
2. Cell responses to stress. Chaperonopathies. Adaptive responses to stress. Hypertrophy, hyperplasia, atrophy.
3. Cell injury: molecular and biochemical mechanisms. Morphologic alterations. Reversible injury. Hypoxia and ischemia. Adaptive response to hypoxia. Ischemia-reperfusion syndrome. Oxidative stress. Aging: physiological and pathologic aspects.
4. Autophagy. Necrosis and apoptosis: molecular mechanisms and morphologic alterations. Piroptosis, paraptosis, anoikisis.
5. Inflammation and repair. Acute inflammation: reactions of blood vessels, leukocyte recruitment, phagocytosis and clearance of the etiologic agent. Mediators of inflammation. Termination of acute inflammation: mechanisms and mediators. Morphologic patterns of acute inflammation. Chronic inflammation: morphologic features, cells and mediators involved.
Granulomatous inflammation. Systemic effects of inflammation: fever, acute phase response, anemia of chronic diseases, cachexia. Examples of inflammatory diseases: pneumonia, hepatitis, tuberculosis, inflammatory bowel diseases.
Tissue repair: cell and tissue regeneration. Repair by connective tissue deposition. Healing of skin wounds and fractures. Abnormalities in tissue repair.
6. Environmental and nutritional diseases. Chemical and physical agents. Alcohol and smoke. Climate change and health effects. Occupational health risks. Nutrition as a cause of disease: malnutrition, obesity and vitamin deficiency. Diet and cancer. Diet and cardiovascular risk.
7. Metabolic diseases. Hyperuricemia and gout. Alkaptonuria and phenylketonuria. Dyslipidemias. Pathogenesis and pathophysiology of mellitus diabetes type 1 and 2. Pathological biochemistry in diabetes and its complications. MODY. Metabolic syndrome.
8. Arteriosclerosis. Atherosclerosis. Risk factors. Etiopathogenesis, morphology, complications.
9. Cellular pathology: steatosis and intracellular accumulations. Diseases of the extracellular environment: fibrosis and amyloidosis. Hepatic and pulmonary fibrosis. Systemic sclerosis. Generalized and focal amyloidosis. Molecular bases of Alzheimer's disease.
10. Neoplasia. Functional and morphological features of neoplastic cells. Metabolic reprogramming of tumor cells. Cancer stem cells. Benign and malignant neoplasms. Molecular bases of cancer: genetic and epigenetic alterations. Invasion and metastasis. Angiogenesis. Inflammation and cancer. Molecular bases of multistep carcinogenesis. Neoplastic cachexia and paraneoplastic syndromes.
11. Pathophysiology of water and sodium balance: edema and dehydration. Pathophysiology of acid-base balance: acidosis and alkalosis. Pathophysiology of thermoregulation. Pathophysiology of iron metabolism. Hematopoietic Disorders: anemias, polycythemia; leukopenia, leukocytosis and leukemias; platelet disorders. Pathophysiology of Hemostasis. Pathophysiology of hypertension, hypotension and shock.

1.The karyotype. The human chromosomes. Techniques useful to detect microscopic and sub-microscopic rearrangements (classical karyotyping, FISH, and a-CGH).
2. The chromosomal abnormalities and their importance in the phenotype and reproductive risk. The different types of cytogenetic abnormalities and the possible causes of aneuploidies. Clinical indications for chromosome analysis in pre and postnatal age. Genomic disorders.
3. Prenatal diagnosis and methods for prenatal diagnosis: invasive and non invasive testing (bi-test, NIPD). Indications for prenatal diagnosis by invasive testing trough amniocentesis and chorionic villus sampling.
4. Gene subjected to genomic imprinting. How the imprinting works: examples of imprinted gene clusters. Defects of genomic imprinting, Uniparental disomies (UPD) and imprinting diseases: AS/PWS, BWS/SRS.
5. Dynamic mutation and possible clinical consequences. Classification. Fragile X Syndrome, Huntington disease, Myotonic dystrophy.
6. The main classes of gene testing and methods to perform them. The importance of genetic counselling in genetic testing.
7. X chromosome inactivation in females related to gene dosage and the difference between random and preferential inactivation in presence of chromosome/gene alterations involving X.
8. The genetics of sex determination: genetic anomalies associated with incomplete sexual differentiation.
9. Mitochondrial disorders. Molecular basis of genetic diseases, reduced penetrance and expressivity variability in human inherited diseases.
10. Genetics cancer predisposition: counselling and germline mutation testing."

1. Epidemiology and risk factors. Prevention and early detection of cancer. Approach to the patient with cancer.
2. Immune system and tumors. Tumor antigens.
3. Clinical aspects of neoplasia: grading and staging.
4. Tumor immunodiagnosis.
5. Immune system to fight cancer: the basis of immunotherapy.

Cancer epidemiology
Diagnostic criteria and methods.
Prevention.
From molecular oncology to diagnosis and therapy: examples and clinical cases.