Molecular and Cellular Basis of Diseases
A.Y. 2021/2022
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.
Lesson period: First semester
Assessment methods: Esame
Assessment result: voto verbalizzato in trentesimi
Single course
This course cannot be attended as a single course. Please check our list of single courses to find the ones available for enrolment.
Course syllabus and organization
Single session
Responsible
More specific information on the delivery modes of training activities for academic year 2021/22 will be provided over the coming months, based on the evolution of the public health situation.
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 exam consists of an oral test that covers all the topics covered in the course and listed in the program. The oral exam is passed only if the student reaches a grade of at least 18/30 with all the commissioners. The final grade is the weighted average of the votes of the individual commissioners. The honors will be proposed for students who have achieved 30/30 with all the commissioners, for the use of correct scientific language, the demonstration of autonomy of judgment and for the high communication skills.
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.
"
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
lectures, discussion of scientific articles, laboratory exercises on topics covered in class (mechanisms underlying angiogenesis, drug resistance of neoplastic cells, evaluation of endothelial dysfunction)
Teaching Resources
da integrare con review e articoli scientifici presentati durante il corso
- Pontieri - Russo - Frati. Patologia generale e fisiopatologia generale, Piccin, Edizione VI
- Robbins & Cotran Pathologic Basis of Disease, 10th Edition
- Rubin's Pathology: Clinicopathologic Foundations of Medicine, 7th edition
- Genetics in Medicine, 8th ed Thompson &Thompson 2015
- Neri Genuardi Genetica Umana e Medica III Edizione Elsevier Masson, 2014
- Pontieri - Russo - Frati. Patologia generale e fisiopatologia generale, Piccin, Edizione VI
- Robbins & Cotran Pathologic Basis of Disease, 10th Edition
- Rubin's Pathology: Clinicopathologic Foundations of Medicine, 7th edition
- Genetics in Medicine, 8th ed Thompson &Thompson 2015
- Neri Genuardi Genetica Umana e Medica III Edizione Elsevier Masson, 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."
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
Lectures (120 hours of General Pathology and Physiopathology, 36 hours of Medical Genetics, 12 hours of Medical Oncology). Each lesson is supported by a PowerPoint presentation. Non-formal teaching in small groups (16 hours of Pathologist and General Physiopathology, 8 groups). To understand the clinical implications of basic research and to deepen some topics covered in class, the teachers will provide articles taken from recent scientific literature. Students, accompanied by tutors, are asked to critically read and present the fruit of their work to everyone.
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."
3. Clinical aspects of neoplasia: grading and staging.
4. Tumor immunodiagnosis.
5. Immune system to fight cancer: the basis of immunotherapy."
Teaching methods
Lectures (120 hours of General Pathology and Physiopathology, 36 hours of Medical Genetics, 12 hours of Medical Oncology). Each lesson is supported by a PowerPoint presentation. Non-formal teaching in small groups (16 hours of Pathologist and General Physiopathology, 8 groups). To understand the clinical implications of basic research and to deepen some topics covered in class, the teachers will provide articles taken from recent scientific literature. Students, accompanied by tutors, are asked to critically read and present the fruit of their work to everyone.
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
Lessons: 120 hours
Shifts:
Professors:
Maier Jeanette Anne Marie, Tacchini Lorenza
Gruppo 2
Professor:
Castiglioni SaraGruppo 3
Professor:
Castiglioni SaraGruppo 4
Professor:
Castiglioni SaraGruppo 5
Professor:
Castiglioni SaraGruppo 6
Professor:
Castiglioni Sara
Medical genetics
MED/03 - MEDICAL GENETICS - University credits: 3
Lessons: 36 hours
Professor:
Finelli Palma
Medical oncology
MED/06 - MEDICAL ONCOLOGY - University credits: 1
Lessons: 12 hours