Unit GENERAL PATHOLOGY AND PHYSIOPATHOLOGY

GENERAL PATHOLOGY AND PHYSIOPATHOLOGY - MOD. 1

Code	A000348
Location	PERUGIA
CFU	4
Learning activities	Caratterizzante
Area	C_01. patologia generale e molecolare, immunopatologia, fisiopatologia generale, microbiologia e parassitologia
Sector	MED/04
Type of study-unit	Obbligatorio (Required)

Cognomi A-L

CFU

4

Teacher

Giuseppe Servillo

Teachers

• Giuseppe Servillo

Hours

• 50 ore - Giuseppe Servillo

Language of instruction

Italian

Contents

Definitions: Molecular pathology Causes of disease: Intrinsic causes Extrinsic cause

Reference texts

PONTIERI FRATI, RUSSO: - Due Volumi- Patologia Generale. Fisiopatologia Generale Ed. PICCIN -DIANZANI : Istituzioni di Patologia Generale Ed. UTET

Educational objectives

Acquisition of the basics on the causes of disease, and the molecular mechanisms triggered by them

Prerequisites

Physics, chemistry and cell biology. Basic genetics. Biochemistry of nucleic acids, proteins and lipids. Histology. Human anatomy. Elements of Immunology

Teaching methods

Lectures, class discussions, visualization and commentary of images and laboratory procedures. Viewing movies. Work in a group.

Other information

Schedule of the lessons and exams: The schedule of the lessons and exams is posted on the Course website By appointment through e-mail. Teaching room, Building C, 3th Floor, Medicine and Surgery Course, Piazzale Severi, 1. Perugia. For students with disabilities see the website http://www.unipg.it/disabilita-e-dsa

Learning verification modality

Examination methods: Oral test lasting approximately 30 minutes with 3 questions. The first is prevalent in Molecular pathology, the second in cellular response and the third in Physiopathology topics. The questions will verify the student's preparation in the subject of General Pathology and Physiopathology

Extended program

-Concept of disease: state of health and disease. Etiology and Pathogenesis concept. I - CAUSES OF DISEASE A) DISEASES FROM ENVIRONMENTAL AGENTS: PHYSICAL AND CHEMICAL. Low temperature pathologies: Freezing. High temperature pathologies: burns, Non ionizing and ionizing radiation pathologies. Electrical and electromagnetic energy pathologies (outline). Mechanical and gravitational energy pathologies (outline). Main chemical agents responsible for diseases and causes of cell damage (outline). B) EPIGENETIC, GENETIC AND CHROMOSOMIC PATHOLOGY - INSTRUMENTAL GENE ANALYSIS IN THE DIAGNOSIS OF HUMAN DISEASES (NOTES) - EPIGENETICS Epigenetic regulation of gene functionality and main epigenetic modifications. Epigenetic-environment interactions. Epigenetics and human pathology. - DNA MUTATION Mutations in regulatory and coding regions and their functional consequences. - DNA REPAIR Main molecular repair mechanisms and molecular pathology of DNA repair. Pathology of "mismatch repair". Lynch syndromes and hereditary colorectal cancer. Pathology of the "excision repair". Xeroderma pigmentosum and telangiectasic ataxia. Oncological and non-oncological consequences of altering DNA repair, connection with cellular and organism senescence. - RNA PATHOLOGIES Consequences on RNA of gene mutations. Splicing changes. Non-coding RNAs and their alterations in the pathogenesis of human pathologies: basic concepts - MONOGENIC DISEASES PROTEIN PATHOLOGY: FROM MUTATION TO DISEASE A) Complexity of monogenic diseases: genetic heterogeneity, allelic heterogeneity, interaction between genes and their products, gene-environment interactions, germ and somatic mutations. B) MUTATION OF ENZYMATIC PROTEINS AND FUNCTIONAL INTRACELLULAR PROTEINS - Lysosomal enzyme deficiency (thesaurismosis) with consequent intracellular accumulation: Wolman's disease, lipidosis, gangliosidosis, mucopolysaccharidosis and glycogenosis. - Hereditary pathologies of amino acid metabolism. (Phenylketonuria). - Hemoglobinopathies and hemoglobinopenias (thalassemias, sickle cell) - Deficiency of homeostatic proteins: G-6-PD - Proteins that regulate proliferation (see oncology): Neurofibromatosis C) PATHOLOGY OF THE CELL MEMBRANE: MUTATION OF RECEPTORAL PROTEINS AND TRANSPORT SYSTEMS - Cystic fibrosis, - Familial hypercholesterolaemia - Achondroplasia - Hemochromatosis and iron metabolism. (Hemosiderosis) D) PATHOLOGY OF CELL MEMBRANE: MUTATION OF STRUCTURAL PROTEINS AND CYTO-SKELETON - Hereditary spherocytosis and elliptocytosis, - Muscular dystrophies E) MUTATION OF EXTRA-CELL FUNCTIONAL PROTEINS - Hereditary coagulation pathology: hemophilia, von Willebrand disease, hypercoagulable states F) CONNECTIVE PATHOLOGY: MUTATION OF EXTRACELLULAR STRUCTURAL PROTEINS - Hereditary collagen pathology (S. of Ehlers Danlos) - Hereditary pathology of elastic fibers (S. di Marfan) G) MONOGENIC DISEASES WITH NON-MENDELIAN HERITAGE Repeated Triplet Diseases: Fragile X Syndrome. Huntington's disease Mitochondrial DNA mutations. Pathologies inherited by imprinting CHROMOSOME PATHOLOGY: NUMERICAL AND STRUCTURAL ALTERATIONS Trisomies and monosomies of autosomes and sex chromosomes: Down syndrome. Turner syndrome, Klinefelter syndrome. EMBRYOPATHIES AND FETOPATHIES Principles of teratogenesis. Physical, chemical and infectious teratogenes COMPLEX DISEASES AND MULTIFACTORIAL AND POLYGENIC HERITAGE Genetic, epigenetic and environmental mechanisms

Obiettivi Agenda 2030 per lo sviluppo sostenibile

Health and wellness High quality education

Cognomi M-Z

CFU

4

Teacher

Francesco Grignani

Teachers

• Francesco Grignani

Hours

• 50 ore - Francesco Grignani