Molecular and cellular basis of diseases

A.Y. 2020/2021
16
Max ECTS
200
Overall hours
SSD
MED/03 MED/04 MED/06
Language
Italian
Learning objectives
The aim of the course is to introduce the student to the complexity of pathologic processes. Based on recent scientific publications, molecular and cellular bases of disease will be presented. The student will learn how different etiologic agents activate reactive cellular responses, ultimately leading to alterations of tissue homeostasis. The clinical implications of basic research will be highlighted through the critical reading and discussion of recent scientific literature. In addition, students will be involved in the research activity of the laboratory of General Pathology.
Expected learning outcomes
Through the understanding of the clinical implications of basic research, the student will be able to understand the complexity of the pathogenic mechanisms leading to disease and face the challenges of clinical disciplines. Importantly, being used to read and comment the recent scientific literature, the student will learn to utilize an appropriate language and be self-sufficient in keeping updated about advances in preclinical and clinical sciences. The participation to the activities of a biomedical laboratory will be pivotal in learning the scientific bases driving to clinical decisions and, eventually, in raising an interest for a future career in science.
Course syllabus and organization

Single session

Responsible
The lessons of the first semester will take place in mixed mode:
- in presence in the classroom with a limited number of students, who have booked themselves using Google Form and at the same time in synchrony through the "Teams platform" for students not present;
- the student is obliged to wear the surgical mask for the entire duration of his stay in the classroom and to sit in the free seats respecting the alternation of one occupied seat, one free seat, one occupied seat per single row;
- the lessons will also be video-recorded to allow students unable for documented needs to follow them in sync and made available on the teacher's Ariel / Teams website;
- the lessons will take place at the Vialba center as usual

Students must enter from the main atrium of the Lita Vialba teaching pavilion and undergo body temperature measurement using a Thermo-scanner. The entry / exit routes are differentiated and marked
Prerequisites for admission
Students must possess adequate knowledge of anatomy, histology, biochemistry, cellular and molecular biology, immunology, microbiology and physiology.
Assessment methods and Criteria
The oral examination will test whether the student has understood the fundamental concepts in General pathology, Pathophysiology, Medical Genetics and Oncology. During the oral exam, the critical knowledge and critical thinking skills of the student will be evaluated. A positive assessment (equal to or greater than 18/30) from all the member of the commission will be necessary to pass the exam.
Experimental medicine and pathophysiology
Course syllabus
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.
Teaching methods
Frontal lectures (120 h of General Pathology and Pathophysiology, 36 h of Medical Genetics, 12 h of Medical Oncology) supported by powerpoint presentations.
16 hours of supporting activities (internship) for each group of 10-12 students, who will understand the clinical implications of basic research. Experiments dealing with pathogenic aspects of diseases will be performed. The results will be critically discussed in the light of recent literature.
Teaching Resources
Mainiero, R. Misasi e M Sorice. Patologia generale e fisiopatologia generale, Piccin 2019, VI^ edizione
- Altucci, Berton, Moncharmont, Stivala. Patologia Generale. Idelson Gnocchi 2019, II^ edizione
- Robbins & Cotran Pathologic Basis of Disease, IX^ Edition, 2014
- Rubin's Pathology: Clinicopathologic Foundations of Medicine, VII^ edition, 2014
- Harrison's Manual of Oncology 2/E, 2014
Medical genetics
Course syllabus
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.
Teaching methods
Frontal lectures (120 h of General Pathology and Pathophysiology, 36 h of Medical Genetics, 12 h of Medical Oncology) supported by powerpoint presentations.
16 hours of supporting activities (internship) for each group of 10-12 students, who will understand the clinical implications of basic research. Experiments dealing with pathogenic aspects of diseases will be performed. The results will be critically discussed in the light of recent literature.
Teaching Resources
Genetica in Medicina Thompson & Thompson, (EdiSES), traduzione italiana 8° Edizione, Elsevier
-Neri Genuardi Genetica Umana e Medica Edizione EDRA, 2017

Articoli scientifici segnalati e discussi nel corso delle lezioni
Medical oncology
Course syllabus
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.
Teaching methods
Frontal lectures (120 h of General Pathology and Pathophysiology, 36 h of Medical Genetics, 12 h of Medical Oncology) supported by powerpoint presentations.
16 hours of supporting activities (internship) for each group of 10-12 students, who will understand the clinical implications of basic research. Experiments dealing with pathogenic aspects of diseases will be performed. The results will be critically discussed in the light of recent literature.
Teaching Resources
- Harrison's Manual of Oncology 2/E, 2014
Experimental medicine and pathophysiology
MED/04 - EXPERIMENTAL MEDICINE AND PATHOPHYSIOLOGY - University credits: 12
Practicals: 32 hours
Lessons: 120 hours
Shifts:
Gruppo 2
Professor: Castiglioni Sara
Gruppo 3
Professor: Castiglioni Sara
Gruppo 4
Professor: Castiglioni Sara
Gruppo 5
Professor: Castiglioni Sara
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 2001
Lessons: 36 hours
Professor: Finelli Palma
Medical oncology
MED/06 - MEDICAL ONCOLOGY - University credits: 1
Lessons: 12 hours