Annibale Alessandro PUCA | PATOLOGIA GENERALE E GENETICA MEDICA

cod. 1060100080

PATOLOGIA GENERALE E GENETICA MEDICA

	1060100080
	DIPARTIMENTO DI MEDICINA, CHIRURGIA E ODONTOIATRIA "SCUOLA MEDICA SALERNITANA"
	CORSO DI LAUREA MAGISTRALE A CICLO UNICO DI 6 ANNI
	MEDICINE AND SURGERY
	2015/2016

PERCORSO COMUNE Cohort 2014/2015

	OBBLIGATORIO
	YEAR OF COURSE 2
	YEAR OF DIDACTIC SYSTEM 2012
	SECONDO SEMESTRE

TEACHING UNITS

	SSD	CFU	HOURS	ACTIVITY	TYPE OF ACTIVITY
1	PATOLOGIA GENERALE E GENETICA MEDICA - MOD. 1 PATOLOGIA GENERALE
	MED/04	4	32	LESSONS	COMPULSORY SUBJECTS, CHARACTERISTIC OF THE CLASS
2	PATOLOGIA GENERALE E GENETICA MEDICA - MOD. GENETICA MEDICA
	MED/03	3	24	LESSONS	BASIC COMPULSORY SUBJECTS
3	PATOLOGIA GENERALE E GENETICA MEDICA - MOD. 3 PATOLOGIA GENERALE
	MED/04	2	16	LESSONS	COMPULSORY SUBJECTS, CHARACTERISTIC OF THE CLASS
4	PATOLOGIA GENERALE E GENETICA MEDICA - MOD. 2 PATOLOGIA GENERALE
	MED/04	2	16	LESSONS	COMPULSORY SUBJECTS, CHARACTERISTIC OF THE CLASS

PROFESSORS

	ALESSANDRO WEISZ1 T Curriculum
	ENZA MARIA VALENTE4 Curriculum
	ANNIBALE ALESSANDRO PUCA3 Curriculum
	MAURIZIO BIFULCO2 Curriculum

	Objectives
	THE STUDENT WILL LEARN THE MECHANISMS BY WHICH THE VARIOUS AGENTS CAUSING ILLNESS INTERACT WITH BIOLOGICAL SYSTEMS AND THEREBY INDUCE DAMAGE AND ALTERATIONS IN THE STRUCTURE AND FUNCTIONS OF CELLS, TISSUES AND ORGANS, DISRUPTING THE HOMEOSTATIC BALANCE AND CAUSIN ILLNESS ONSET AND PROGRESSION. TO THIS END, THE CONCEPTUAL BASES FOR UNDERSTANDING THE CAUSES OF DISEASES IN HUMANS WILL BE PROVIDED, TOGETHER WITH GENERAL PATHOGENIC MECHANISMS AND PATHOPHYSIOLOGICAL PROCESSES AFFECTING CELLS, APPARATA AND SYSTEMS. THE STUDENT WILL ALSO LEARN THE BASIS OF HUMAN, MOLECULAR AND MEDICAL GENETICS; IN PARTICULAR THE STUDENT WILL GAIN KNOWLEDGE ON MENDELIAN, CHROMOSOMIC, MITOCHONDRIAL AND MULTIFACTORIAL DISORDERS AND RELATED LABORATORY TECHNIQUES TO STUDY THEM; CONCEPTS OF PHARMACOGENETICS, GENETIC COUNSELLING AND GENETIC TESTING. UPON COMPLETION OF THE COURSE, THE STUDENT WILL BE ABLE TO ANALYZE, IDENTIFY AND INTERPRET THE PATHOGENIC MECHANISMS THAT CAUSE HUMAN DISEASES AND THEIR CONSEQUENCES, AND MUST HAVE ACQUIRED BASIC INFORMATION ON THE MAIN DIAGNOSTIC TECHNIQUES, PARTICULARLY AT THE MOLECULAR LEVEL. THE KNOWLEDGE ACQUIRED WILL REPRESENT THE ESSENTIAL SUBSTRATE FOR A SUBSEQUENT CORRECT TO APPROACH CLINICAL SCIENCES.

THE STUDENT WILL LEARN THE MECHANISMS BY WHICH THE VARIOUS AGENTS CAUSING ILLNESS INTERACT WITH BIOLOGICAL SYSTEMS AND THEREBY INDUCE DAMAGE AND ALTERATIONS IN THE STRUCTURE AND FUNCTIONS OF CELLS, TISSUES AND ORGANS, DISRUPTING THE HOMEOSTATIC BALANCE AND CAUSIN ILLNESS ONSET AND PROGRESSION. TO THIS END, THE CONCEPTUAL BASES FOR UNDERSTANDING THE CAUSES OF DISEASES IN HUMANS WILL BE PROVIDED, TOGETHER WITH GENERAL PATHOGENIC MECHANISMS AND PATHOPHYSIOLOGICAL PROCESSES AFFECTING CELLS, APPARATA AND SYSTEMS. THE STUDENT WILL ALSO LEARN THE BASIS OF HUMAN, MOLECULAR AND MEDICAL GENETICS; IN PARTICULAR THE STUDENT WILL GAIN KNOWLEDGE ON MENDELIAN, CHROMOSOMIC, MITOCHONDRIAL AND MULTIFACTORIAL DISORDERS AND RELATED LABORATORY TECHNIQUES TO STUDY THEM; CONCEPTS OF PHARMACOGENETICS, GENETIC COUNSELLING AND GENETIC TESTING. UPON COMPLETION OF THE COURSE, THE STUDENT WILL BE ABLE TO ANALYZE, IDENTIFY AND INTERPRET THE PATHOGENIC MECHANISMS THAT CAUSE HUMAN DISEASES AND THEIR CONSEQUENCES, AND MUST HAVE ACQUIRED BASIC INFORMATION ON THE MAIN DIAGNOSTIC TECHNIQUES, PARTICULARLY AT THE MOLECULAR LEVEL. THE KNOWLEDGE ACQUIRED WILL REPRESENT THE ESSENTIAL SUBSTRATE FOR A SUBSEQUENT CORRECT TO APPROACH CLINICAL SCIENCES.

	Prerequisites
	BASIC ANATOMY AND HISTOLOGY, BIOLOGY AND MOLECULAR BIOLOGY, CHEMISTRY AND BIOCHEMISTRY, MEDICAL PHYSICS, PHYSIOLOGY AND GENERAL GENETICS, MICROBIOLOGY. IN PARTICULAR, DETAILED KNOWLEDGE OF THE STRUCTURE AND FUNCTIONS OF EUKARYOTIC CELLS, TISSUES, ORGANS AND SYSTEMS; DEVELOPMENT AND SEXUAL DETERMINATION; DNA AND CHROMOSOME ORGANIZATION, RNA AND PROTEINS, INCLUDING ENZYMOLOGY; PATHOGENIC MICROORGANISMS.

Prerequisites

BASIC ANATOMY AND HISTOLOGY, BIOLOGY AND MOLECULAR BIOLOGY, CHEMISTRY AND BIOCHEMISTRY, MEDICAL PHYSICS, PHYSIOLOGY AND GENERAL GENETICS, MICROBIOLOGY. IN PARTICULAR, DETAILED KNOWLEDGE OF THE STRUCTURE AND FUNCTIONS OF EUKARYOTIC CELLS, TISSUES, ORGANS AND SYSTEMS; DEVELOPMENT AND SEXUAL DETERMINATION; DNA AND CHROMOSOME ORGANIZATION, RNA AND PROTEINS, INCLUDING ENZYMOLOGY; PATHOGENIC MICROORGANISMS.

	Contents
	THE CONCEPT OF DISEASE: THE DISEASE, AS LOSS OF THE HEALTH STATUS AND HOMEOSTATIC UNBALANCE. ETIOLOGY: THE CONCEPT OF "CAUSE" IN PATHOLOGY. PATHOGENESIS: KEY PATHOGENIC MECHANISMS. GENERAL ETIOLOGY: CHEMICAL, PHYSICAL AND BIOLOGICAL AGENTS OF DISEASE.THE COMPONENTS AND PHASES OF BLOOD CLOTTING (HAEMOSTASIS); THE ROLE OF THE ENDOTHELIUM; THE PRO-COAGULANT ACTIVITY OF ENDOTHELIAL CELLS; THE ANTI-COAGULANT ACTIVITY OF ENDOTHELIAL CELLS; THE ROLE OF PLATELETS; THE RELATIONSHIP BETWEEN STRUCTURAL AND FUNCTIONAL ELEMENTS OF PLATELETS; MEDIATORS OF PLATELET ACTIVATION; THE ACTIVATION AND AGGREGATION OF PLATELETS; THE PRO-COAGULANT FUNCTION OF PLATELETS; COAGULATION; COAGULATION FACTORS; FIBRIN POLYMERISATION; ACTIVATION OF THE COAGULATION CASCADE; THE REGULATION OF COAGULATION; THE NATURAL ANTI-COAGULANTS; FIBRINOLYSIS; THE MAIN LABORATORY TEST FOR HAEMOSTASIS; AGING PATHOLOGY GENOMICS: THE GENOME AS A CAUSE OF DISEASE, THE “MOLECULAR LOGIC” OF LIVING ORGANISMS, CONGENITAL AND HEREDITARY GENOMIC, CHROMOSOMAL AND GENE MUTATIONS; CAUSES, TAXONOMY, PATHOGENIC MECHANISMS AND CONSEQUENCES OF MUTATIONS. DISEASES RELATED TO MUTATIONS OF MITOCHONDRIAL DNA. GENOME INSTABILITY. GENERAL ONCOLOGY: THE CONCEPT OF NEOPLASIA; PHYSIOLOGICAL AND PATHOLOGICAL PROLIFERATIONS; HISTOGENETIC AND CLINICAL CLASSIFICATION OF NEOPLASMS, BENIGNITY AND MALIGNANCY; TUMOR ATYPIA, TUMOR MARKERS. NATURAL HISTORY OF CANCER: MULTIPHASIC CARCINOGENESIS, THE CONCEPT OF TUMOR PROGRESSION, ANGIOGENESIS, INFILTRATIVE GROWTH. METASTASIS: DEFINITION AND GENERAL CONCEPTS; PRIMARY AND METASTATIC TUMORS; MOLECULAR MECHANISMS OF METASTASIS; METASTASTIC ROUTES; ORGANOTROPISM OF METASTASES. ETIOLOGY OF CANCER: IONIZING AND EXCITING RADIATIONS, DNA AND RNA TUMOR VIRUSES, CHEMICAL CARCINOGENESIS, PROTO-ONCOGENES AND TUMOR SUPPRESSOR GENES. REGULATION OF NORMAL AND TRANSFORMED CELL PROLIFERATION: GENES THAT CONTROL CELL CYCLE PROGRESSION AND CELLULAR SENESCENCE. CANCER CACHEXIA. PRECANCEROUS LESIONS. MEDICAL GENETICS: CELLULAR DIVISION, MITOSIS AND MEIOSIS; DNA REPLICATION AND TRANSCRIPTION; PROTEIN SYNTHESIS; CONCEPT OF MUTATION, RARE VARIANT AND POLYMORPHISM; PEDIGREE DRAWING; INHERITANCE OF MONOGENIC TRAITS, MENDEL LAWS; AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE, X-LINKED TRANSMISSION; CONCEPTS OF PENETRANCE, EXPRESSION, ANTICIPATION, FITNESS, MOSAICISM, PHENOCOPY, IMPRINTING, DE NOVO MUTATIONS; DYNAMIC MUTATIONS; GENETIC AND ALLELIC HETEROGENEITY; OLIGOGENIC INHERITANCE; MITOCHONDRIAL DNA AND INHERITANCE; KARYOTYPE AND CHROMOSOMAL CLASSIFICATION; NUMERICAL AND STRUCTURAL CHROMOSOMAL ABERRATIONS; MULTIFACTORIAL INHERITANCE, QUANTITATIVE TRAITS, THRESHOLD EFFECT; MULTIFACTORIAL DISEASES, CASE-CONTROL STUDIES; CONCEPTS OF PHARMACOGENETICS AND PHARMACOGENOMICS; CONCEPTS OF LINKAGE, LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT; CLASSIFICATIONS AND APPLICATIONS OF GENETIC TESTING; GENETIC COUNSELING; THERAPEUTIC STRATEGIES IN GENETIC DISEASES; MAIN TECHNIQUES OF GENOTYPING, SEQUENCING AND MOLECULAR CYTOGENETICS.

Contents

THE CONCEPT OF DISEASE: THE DISEASE, AS LOSS OF THE HEALTH STATUS AND HOMEOSTATIC UNBALANCE. ETIOLOGY: THE CONCEPT OF "CAUSE" IN PATHOLOGY. PATHOGENESIS: KEY PATHOGENIC MECHANISMS.
GENERAL ETIOLOGY: CHEMICAL, PHYSICAL AND BIOLOGICAL AGENTS OF DISEASE.THE COMPONENTS AND PHASES OF BLOOD CLOTTING (HAEMOSTASIS); THE ROLE OF THE ENDOTHELIUM; THE PRO-COAGULANT ACTIVITY OF ENDOTHELIAL CELLS; THE ANTI-COAGULANT ACTIVITY OF ENDOTHELIAL CELLS; THE ROLE OF PLATELETS; THE RELATIONSHIP BETWEEN STRUCTURAL AND FUNCTIONAL ELEMENTS OF PLATELETS; MEDIATORS OF PLATELET ACTIVATION; THE ACTIVATION AND AGGREGATION OF PLATELETS; THE PRO-COAGULANT FUNCTION OF PLATELETS; COAGULATION; COAGULATION FACTORS; FIBRIN POLYMERISATION; ACTIVATION OF THE COAGULATION CASCADE; THE REGULATION OF COAGULATION; THE NATURAL ANTI-COAGULANTS; FIBRINOLYSIS; THE MAIN LABORATORY TEST FOR HAEMOSTASIS; AGING
PATHOLOGY GENOMICS: THE GENOME AS A CAUSE OF DISEASE, THE “MOLECULAR LOGIC” OF LIVING ORGANISMS, CONGENITAL AND HEREDITARY GENOMIC, CHROMOSOMAL AND GENE MUTATIONS; CAUSES, TAXONOMY, PATHOGENIC MECHANISMS AND CONSEQUENCES OF MUTATIONS. DISEASES RELATED TO MUTATIONS OF MITOCHONDRIAL DNA. GENOME INSTABILITY.
GENERAL ONCOLOGY: THE CONCEPT OF NEOPLASIA; PHYSIOLOGICAL AND PATHOLOGICAL PROLIFERATIONS; HISTOGENETIC AND CLINICAL CLASSIFICATION OF NEOPLASMS, BENIGNITY AND MALIGNANCY; TUMOR ATYPIA, TUMOR MARKERS. NATURAL HISTORY OF CANCER: MULTIPHASIC CARCINOGENESIS, THE CONCEPT OF TUMOR PROGRESSION, ANGIOGENESIS, INFILTRATIVE GROWTH. METASTASIS: DEFINITION AND GENERAL CONCEPTS; PRIMARY AND METASTATIC TUMORS; MOLECULAR MECHANISMS OF METASTASIS; METASTASTIC ROUTES; ORGANOTROPISM OF METASTASES. ETIOLOGY OF CANCER: IONIZING AND EXCITING RADIATIONS, DNA AND RNA TUMOR VIRUSES, CHEMICAL CARCINOGENESIS, PROTO-ONCOGENES AND TUMOR SUPPRESSOR GENES. REGULATION OF NORMAL AND TRANSFORMED CELL PROLIFERATION: GENES THAT CONTROL CELL CYCLE PROGRESSION AND CELLULAR SENESCENCE. CANCER CACHEXIA. PRECANCEROUS LESIONS.
MEDICAL GENETICS: CELLULAR DIVISION, MITOSIS AND MEIOSIS; DNA REPLICATION AND TRANSCRIPTION; PROTEIN SYNTHESIS; CONCEPT OF MUTATION, RARE VARIANT AND POLYMORPHISM; PEDIGREE DRAWING; INHERITANCE OF MONOGENIC TRAITS, MENDEL LAWS; AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE, X-LINKED TRANSMISSION; CONCEPTS OF PENETRANCE, EXPRESSION, ANTICIPATION, FITNESS, MOSAICISM, PHENOCOPY, IMPRINTING, DE NOVO MUTATIONS; DYNAMIC MUTATIONS; GENETIC AND ALLELIC HETEROGENEITY; OLIGOGENIC INHERITANCE; MITOCHONDRIAL DNA AND INHERITANCE; KARYOTYPE AND CHROMOSOMAL CLASSIFICATION; NUMERICAL AND STRUCTURAL CHROMOSOMAL ABERRATIONS; MULTIFACTORIAL INHERITANCE, QUANTITATIVE TRAITS, THRESHOLD EFFECT; MULTIFACTORIAL DISEASES, CASE-CONTROL STUDIES; CONCEPTS OF PHARMACOGENETICS AND PHARMACOGENOMICS; CONCEPTS OF LINKAGE, LINKAGE DISEQUILIBRIUM AND FOUNDER EFFECT; CLASSIFICATIONS AND APPLICATIONS OF GENETIC TESTING; GENETIC COUNSELING; THERAPEUTIC STRATEGIES IN GENETIC DISEASES; MAIN TECHNIQUES OF GENOTYPING, SEQUENCING AND MOLECULAR CYTOGENETICS.

	Teaching Methods
	FORMAL LECTURES AND INFORMAL COLLOQUIA WITH THE STUDENTS.

	Verification of learning
	TEST (MULTIPLE CHOICE) AND ORAL EXAMINATION

	Texts
	- ROBBINS AND COTRAN, PATHOLOGIC BASIS OF DISEASE, VIII EDITION, ELSEVIER - T. STRACHAN, A.P. READ. HUMAN MOLECULAR GENETICS 2 (2ND ED). BIOS SCIENTIFIC PUBLISHERS LTD; 1999

	More Information
	THE PROFESSOR OF GENERAL PATHOLOGY AND COURSE COORDINATOR MEETS THE STUDENTS ON TUESDAY AND THURSDAY AFTERNOON (H 14:30-16:30), UPON EMAIL APPOINTMENT. INTERESTED STUDENTS WILL BE ABLE TO ATTEND HIS RESEARCH LABORATORY TO DEEPEN THEIR KNOWLEDGE ON SPECIFIC SUBJECTS TREATED DURING HIS FORMAL LECTURES AND TO PREPARE AN EXPEIRIMENTAL DOCTORAL THESIS. THE PROFESSOR OF MEDICAL GENETICS MEETS THE STUDENTS ON WEDNESDAY AFTERNOON (H 14:00-15:00), UPON EMAIL APPOINTMENT.

More Information

THE PROFESSOR OF GENERAL PATHOLOGY AND COURSE COORDINATOR
MEETS THE STUDENTS ON TUESDAY AND THURSDAY AFTERNOON (H 14:30-16:30), UPON EMAIL APPOINTMENT.
INTERESTED STUDENTS WILL BE ABLE TO ATTEND HIS RESEARCH LABORATORY TO DEEPEN THEIR KNOWLEDGE ON SPECIFIC SUBJECTS TREATED DURING HIS FORMAL LECTURES AND TO PREPARE AN EXPEIRIMENTAL DOCTORAL THESIS.
THE PROFESSOR OF MEDICAL GENETICS MEETS THE STUDENTS ON WEDNESDAY AFTERNOON (H 14:00-15:00), UPON EMAIL APPOINTMENT.

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Annibale Alessandro PUCA | PATOLOGIA GENERALE E GENETICA MEDICA