GENERAL PATHOLOGY AND GENETICS

Annibale Alessandro PUCA GENERAL PATHOLOGY AND GENETICS

1012200008
DIPARTIMENTO DI MEDICINA, CHIRURGIA E ODONTOIATRIA "SCUOLA MEDICA SALERNITANA"
EQF6
PHYSIOTHERAPY
2020/2021

OBBLIGATORIO
YEAR OF COURSE 1
YEAR OF DIDACTIC SYSTEM 2013
SECONDO SEMESTRE
CFUHOURSACTIVITY
1PATOLOGIA GENERALE E GENETICA - MOD.PATOLOGIA GENERALE
224LESSONS
2PATOLOGIA GENERALE E GENETICA - MOD. PATOLOGIA CLINICA
112LESSONS
3PATOLOGIA GENERALE E GENETICA - MOD. GENETICA MEDICA
112LESSONS
4PATOLOGIA GENERALE E GENETICA - MOD.SCIENZE TECNICHE DIETETICHE APPLICATE
112LESSONS
Objectives
EDUCATIONAL OBJECTIVES: AT THE END OF THE COURSE THE STUDENT MUST:
1. TO UNDERSTAND THE RELATIONSHIP BETWEEN STRUCTURE AND ACTIVITY OF THE MACROMOLECULES, THE FUNDAMENTAL MECHANISMS OF BIOLOGICAL PROCESSES AT THE MOLECULAR LEVEL, THE METABOLIC PROCESSES AND THEIR INTEGRATION IN THE GENERAL METABOLISM OF THE HUMAN ORGANISM.
2. TO KNOW THE ETIOPATHOGENESIS OF A DISEASE, THE BASES OF HUMAN INNATE AND ADAPTATIVE IMMUNE RESPONSES AND THEIR DYSREGULATION.
3. TO KNOW THE LAWS OF MENDEL, THE MODALITIES OF TRANSMISSION OF THE HEREDITARY CHARACTERS AND THE MUTATIONS CONNECTED TO THE GENETIC PATRIMONY.
4.INTERPRETATION OF CLINICAL LABORATORY TEST
Prerequisites
N/A
Contents
HUMAN MEDICAL GENETICS

¬ CONCEPTS OF REPLICATION AND TRANSCRIPTION OF DNA: PROTEIN SYNTHESIS

¬ MUTATIONS, RARE VARIANTS AND POLYMORPHISMS

¬ GENIALOGICAL TREES AND THEIR REPRESENTATIONS

¬ TRANSMISSION OF SINGLE-FACTOR CHARACTERS: MENDEL'S LAWS

¬ TRANSMISSION: AUTOSOMAL DOMINANT, RECESSIVE AND LINKED TO CHROMOSOME X
CONCEPT OF PENETRANCE, VARIABLE EXPRESSION, FITNESS, DE NOVO MUTATIONS
DNA AND MITOCHONDRIAL INHERITANCE

¬ KARIOTYPE AND CLASSIFICATION OF CHROMOSOMES

¬ CHROMOSOMAL ABERRATIONS: NUMBER AND MEASURE

¬ MULTIFACTORIAL HERITAGE: QUANTITATIVE CHARACTERS, THRESHOLD EFFECT, MULTIFACTORIAL DISEASES

¬ CLASSIFICATION OF GENETIC TESTS AND APPLICATIONS

¬ GENETIC COUNSELING


GENERAL PATHOLOGY: GENERALITIES

. PHYSICAL AND CHEMICAL AGENTS CAUSING DISEASE

. DIABETES AND OBESITY

. STORAGE PATHOLOGIES

. ACUTE AND CHRONIC INFLAMMATION

. SYSTEMIC EFFECTS OF INFLAMMATION AND TYPES OF INFLAMMATORY REACTIONS

. TUMORS

. PATHOPHYSIOLOGY OF THE IMMUNE SYSTEM

. HEMOSTASIS AND HEMORRHAGIC DISEASES

.ATHEROSCLEROSIS

. DIGESTIVE AND KIDNEY DISEASES



INTERPRETATION OF CLINICAL LABORATORY TEST
•REFERENCE VALUES, SENSITIVITY AND SPECIFICITY, INTER AND INTRAINDIVIDUALVARIABILITY

•CLINICAL AND LABORATORY ASPECT OF TRANSFUSION MEDICINE:
(BLOOD, MORPHOLOGICAL EXAMINATION AND COUNTING OF BLOOD CELLS, ANTICOAGULANTS USE, PROTIDOGRAM, NOTES OF IMMUNOLOGY: INNATE AND ADAPTIVE IMMUNITY, MYELOPOIESIS, TRANSFUSION MEDICINE: AB0 GROUP, RH TYPOLOGY, DIRECT AND INDIRECT COOMBS TEST)

•DIAGNOSTIC EVALUATION OF ANEMIES
(DEFINITION AND DIFFERENTIAL DIAGNOSIS, IRON DEFICIENCY ANEMIA, THALASSEMIA, HEMOGLOBINOPATHIES HEREDITARY SYNDROMES AND SCREENING TEST, METHODS: GR INDICES, RETICULOCYTES COUNT, HB ELECTROPHORESIS, SCREENING TEST FOR HEMOGLOBINOPATHIES)

•LABORATORY TESTS FOR THE STUDY OF IRON METABOLISM (SIDEREMIA, FERRITIN, TOTAL IRON-BINDING CAPACITY (TIBC), TRANSFERRINE AND TRANSFERRINE SATURATION, APTOGLOBINE)

•THE LABORATORY IN THE ASSESSMENT OF THE HEMOSTATIC FUNCTION AND THROMBOTIC RISK (HEMORRHAGIC DISEASES, THROMBOTIC DISEASES, ALTERATIONS OF THE PLATELETS AND MAIN LABORATORY TEST)

Teaching Methods
FRONTAL LESSONS
Verification of learning
ORAL QUESTIONS
Texts
•NOTES FROM FRONTAL LESSONS.
•ROBBINS E COTRAN. LE BASI PATOLOGICHE DELLE MALATTIE
•MEDICINA DI LABORATORIO - LOGICA & PATOLOGIA CLINICA
ISBN: 978-88-299-2973-3
CODICE PICCIN: 0110090
AUTORI: ANTONOZZI - GULLETTA

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