MOLECULAR PATHOLOGY
cod. 05077

Academic year 2022/23
2° year of course - First semester
Professor
- Bianca Maria ROTOLI
Academic discipline
Patologia generale (MED/04)
Field
Discipline del settore biomedico
Type of training activity
Characterising
48 hours
of face-to-face activities
6 credits
hub: PARMA
course unit
in ITALIAN

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

In order to understand the contents of the course adequate knowledge of Histology, Anatomy, Biochemistry, Physiology are required.

Course unit content

The course will concern:
Genetic Diseases
Pathophysiology of blood
Genetic disorders of erythrocytes
Molecular diagnostics of genetic diseases
The cancer
Neurodegenerative diseases
Cell aging

Full programme

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.

Bibliography

- Kumar, Abbas, Fausto, Aster- Robbins e Cotran - Le basi patologiche delle malattie, 8 Ed. Elsevier-Masson.
- Albi, Ambesi-impiombato, Curcio, Moncharmont, Palese - Le basi cellulari e molecolari delle malattie. Ed Idelson Gnocchi.

Specific bibliographic references will be provided during the lessons

Teaching methods

Lectures will be held on-site in compliance with safety standards, provided that further instructions on the ongoing health emergency are not implemented. Supporting material will be available on the specific, student-reserved platform (Elly) and will include slide presentations in Power Point.

Assessment methods and criteria

Tests in progress will not be carried out.
The final assessment will be carried out through an oral examination.
In case of the persistence of the health emergency, the exams will be conducted remotely, as follows:
remote oral questions, through the Teams platform (guide http://selma.unipr.it/).
Students with SLD / BSE must first contact Le Eli-che: support for students with disabilities, D.S.A., B.E.S. (https://sea.unipr.it/it/servizi/le-eli-che-supporto-studenti-con-disabilita-dsa-bes)

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

No