Learning objectives
The course will provide the knowledge necessary to understand the disease processes from a molecular and cellular point of view. The knowledge gained will enable the students to correlate molecular alterations with microscopic and macroscopic alterations observable in cells, tissues and organs, in order to fully understand the pathogenesis of the diseases. It will be also made some mention of the diagnostic at the molecular level. Bibliography may be used to acquire independent judgment, communication skills and learning ability, which can be demonstrated in the examination.
Prerequisites
To understand the contents of the course adequate knowledge of Histology, Anatomy, Biochemistry, Physiology are required.
Course unit content
During the course the arguments will cover the following content:
- Genetic Diseases
- Cell aging
- Pathophysiology of blood
- Genetic disorders of erythrocytes
- Neurodegenerative diseases
- Molecular diagnostics of genetic diseases
- The cancers
Full programme
AGING: cellular bases of aging; Reduction of cell replication; Accumulation of metabolic and genetic damage; Premature aging syndromes: Werner syndrome, Hugthinson-Gilford syndrome, Bloom syndrome, xeroderma pigmentosum, Cockayne syndrome; Telomerase, senescence and cancer.
GENETIC DISEASES: Causes and mechanisms of mutation; Transmission of pathological characters; Classical and non-classical inheritance. Pathologies caused by triplets: the X-fragile syndrome. Genomic imprinting: Angelman syndrome and Prader-Willy. Molecular basis and examples of single gene diseases: familiar hypercholesterolemia, cystic fibrosis, phenylketonuria; alterations of structural proteins, lysosomal storage diseases. Numerical and structural chromosome abnormalities.
MOLECULAR DIAGNOSTICS OF GENETIC DISEASES: pre- and post-natal diagnosis. Methods of diagnosis of genetic diseases and chromosomal
PATHOPHYSIOLOGY OF BLOOD: hematopoiesis and stem cells. Features of the blood cells. Disease of the metabolism of heme: porphyria and jaundice
PATHOLOGY OF ERYTHROCYTES: anemia from decreased production: Megaloblastic anemia, Anemia caused by iron deficiency. Hemolytic anemia by intrinsic and extrinsic causes: Depranocytosis, Thalassemia, cytoskeletal abnormalities of erythrocyte, MEN. Laboratory diagnosis
NEURODEGENERATIVE DISEASES: Amyloidosis; Alzheimer's disease; Prion diseases; Parkinson's disease. Syndromes by triplet repeat: Huntington's Disease.
THE CANCER: Nomenclature. Elements of classification and epidemiology. Characteristics of cancer cells. Benign and malignant tumors. Proto-oncogenes and tumor suppressor genes. Grading and staging. Viral oncogenesis. Tumor growth and cancer progression. The causes of cancer. Carcinogenesis by physical and chemistry causes. Neoplastic progression. The cancer stem cells. Tumor markers. Molecular diagnostics of cancer. Use of monoclonal antibodies in oncology
Bibliography
- Kumar, Abbas, Fausto, Aster- Robbins e Cotran – Le basi patologiche delle malattie, 8 ed. Elsevier-Masson
References will be provided during specific lessons
Teaching methods
The course will be conducted through interactive lectures in front of the students, with the aid of illustrative material collected in PowerPoint files that, at the end of the course, will be made available to students.
During the lectures the main concepts of each topic will be exposed, encouraging students to ask questions on the basis of references that will be provided.
Assessment methods and criteria
Tests in progress will not be carried out.
The final assessment will be carried out through an oral examination.
Each student will be asked by different teachers two questions on topics listed in the extended program (one form per teacher).
The inability to answer a question (or at least ascertained inability to provide a correct definition of the pathological phenomenon subject of the application) will result in not passing the exam.
At the end of the response each teacher will formulate a judgment given in brackets:
A. Excellent knowledge and understanding of the topic. High capacity for applying knowledge in bio-medical problems. Vote of thirty: 30.
B. Good knowledge and understanding of the topic. Good ability to apply knowledge in bio-medical problems. Vote of thirty: 27-29.
C. Good knowledge and understanding of the topic. Demonstrated ability to apply the knowledge in bio-medical problems. Vote of thirty: 24-26.
D. Knowledge and understanding of the fully sufficient. Fair ability to apply the knowledge in bio-medical problems. Vote of thirty: 21-23.
E. Knowledge and understanding of the subject just enough with obvious gaps. Poor ability to apply knowledge in bio-medical problems. Vote of thirty: 18-20.
Praise be proposed for the demonstration of independence of judgment, high communication skills and ability to learn independently.
The final vote will be decided by mutual agreement between the two teachers, with the possibility to deviate by a maximum of two points of the average of the individual assessments.
Other information
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