Learning outcomes of the course unit
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.
To understand the contents of the course adequate knowledge of Histology, Anatomy, Biochemistry, Physiology are required.
Course contents summary
The course will concern:
Pathophysiology of blood
Genetic disorders of erythrocytes
Molecular diagnostics of genetic diseases
GENETIC DISEASES: intrinsic factors of damage and mutation mechanisms. Monogenic Mendelian diseases (autosomic dominant, autosomic recessive, X-linked). Non-classical inheritance. Pathologies caused by triplets: X fragile syndrome. Genomic imprinting: Angelman syndrome and Prader-Willy syndrome. Molecular basis and examples of single gene diseases: familial hypercholesterolemia, PKU, alterations of structural proteins (Osteogenesis Imperfecta, Ehlers-Danlos Syndrome, Marfan Syndrome, muscular dystrophy), channel and transporter disorders, lysosomal storage diseases. Numerical and structural alterations of chromosomes.
MOLECULAR DIAGNOSTICS OF GENETIC DISEASES: pre- and postnatal diagnosis. Methods of diagnosis of genetic and chromosomal diseases
PATHOPHYSIOLOGY OF BLOOD. Hematopoiesis and stem cells. Characteristics of blood cells. Pathology of heme metabolism: porphyria and jaundice
GENETIC DISEASE OF ERYTHROCYTES: anemia caused by decreased production: megaloblastic anemia, iron deficiency anemia. Hemolytic anemia by intrinsic and extrinsic causes: sickle cell anemia, thalassemia, defects of enzymes, alterations of the cytoskeleton, MEN, laboratory diagnostics.
THE CANCER: Nomenclature. Classification signs and epidemiology. Features of the tumor cells. Benign and malignant tumors. Proto-oncogenes and tumor suppressor genes. Grading and staging. Viral oncogenesis. The tumor growth and tumor progression. The causes of cancer. Chemical-physical carcinogenesis. Neoplastic progression. Fundamentals of cancer metabolism.
The cancer stem cells. Pathologies of stem cells: lymphomas, leukemias. Tumor markers.
Molecular diagnostics of cancer. Use of monoclonal antibodies in oncology. Laboratory diagnosis.
AGING: cellular bases of aging. Reduction in cell replication. Accumulation of genetic and metabolic damage. Premature aging syndromes: Werner syndrome, Hutchinson-Gilford, Bloom, Xeroderma pigmentosum, Cockayne. Telomerase, senescence and cancer.
- Kumar, Abbas, Fausto, Aster- Robbins e Cotran – Le basi patologiche delle malattie, 8 ed. Elsevier-Masson
References will be provided during specific lessons
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.
If financial resources will be available, practical lessons about lab activities related to in vitro cell culture techniques will be provided