LABORATORY MEDICINE AND INTEGRATED DIAGNOSTICS

Annibale Alessandro PUCA LABORATORY MEDICINE AND INTEGRATED DIAGNOSTICS

1060100210
DIPARTIMENTO DI MEDICINA, CHIRURGIA E ODONTOIATRIA "SCUOLA MEDICA SALERNITANA"
EQF7
MEDICINE AND SURGERY
2020/2021

OBBLIGATORIO
YEAR OF COURSE 3
YEAR OF DIDACTIC SYSTEM 2016
PRIMO SEMESTRE
CFUHOURSACTIVITY
1MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD GENETICA MEDICA
336LESSONS
2MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD 1 SCIENZE TECNICHE DI MEDICINA E DI LABORATORIO
448LESSONS
3MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD PATOLOGIA CLINICA
224LESSONS
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 LAWS OF MENDEL, THE MODALITIES OF TRANSMISSION OF THE HEREDITARY CHARACTERS AND THE MUTATIONS CONNECTED TO THE GENETIC PATRIMONY.
3.•INTERPRETATION OF CLINICAL LABORATORY TEST
Prerequisites
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Contents
¬ 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


INTERPRETATION OF CLINICAL LABORATORY TEST:
•INTRODUCTION TO LABORATORY MEDICINE. BIOMARKERS, DEFINITION AND CLASSIFICATION, GENOMIC, PROTEIN AND METABOLOMIC BIOMARKERS.

•METHODOLOGIES IN LABORATORY MEDICINE. VALIDATION OF METHODOLOGIES. GENERAL CONCEPTS: ANALYTICAL SENSITIVITY AND SPECIFICITY, PRECISION AND ACCURACY. DEFINITION OF LIMIT OF DETECTION (LOD), AND LIMIT OF QUANTITATION (LOQ).

•COMPLETE BLOOD COUNT: EXAMINATION AND COAGULATION. HEMATOCRIT, HEMOGLOBIN, RED BLOOD CELL COUNT; MEANING AND REFERENCE VALUES. ERYTHROCYTE INDICES: MCV, MCH, MCHC, RDW. HEMATOPOIESIS. MORPHOLOGICAL EXAMINATION OF BLOOD CELLS. DEFINITIONS OF ANEMIA. MICRO- AND MACROCYTIC, HYPO- AND HYPERCHROMIC, HOMOGENEOUS AND HETEROGENEOUS ANEMIAS (ANISOCYTOSIS). IRON HOMEOSTASIS. TRANSFERRIN, TRANSFERRIN SATURATION PERCENTAGE, TIBC. EMBRYONIC HEMOGLOBINS, HBF, HBA1 AND HBA2. MAIN HEMOGLOBINOPATHIES CAUSED BY POINT MUTATIONS: SICKLE CELL ANEMIA (HBS), HBC, HBE, HBD, HBM. ALPHA- AND BETA-THALASSEMIAS. LEUKOCYTE FORMULA. LEUKOCYTE CHANGES. LEUKEMIAS AND MYELODYSPLASTIC SYNDROMES. COAGULATION SYSTEM AND FIBRINOLYSIS. LABORATORY INVESTIGATIONS FOR THE EVALUATION OF HEMOSTASIS. COAGULATION DISORDERS.

•SERUM BIOMARKERS IN LIVER AND BILIARY TRACT DISEASES.

•KIDNEY AND EXCRETORY PATHWAYS. ELECTROLYTES AND ACID-BASE BALANCE.

•CARDIO-VASCULAR SYSTEM. CARDIOVASCULAR SYSTEM MARKERS AND RELATED PATHOPHYSIOLOGICAL CHANGES. DIAGNOSIS OF HEART FAILURE AND CORONARY INSUFFICIENCY. MYOCARDIAL INJURY MARKERS. MYOCARDIAL FUNCTION MARKERS. DIAGNOSIS OF ARTERIAL HYPERTENSION AND DEEP VEIN THROMBOSIS. DIABETES MELLITUS.

•THYROID FUNCTION MARKERS.

•MUSCLE DISEASES. MYOPATHIES, DEFINITION. MUSCULAR / MYOTONIC / METABOLIC DYSTROPHIES. INFLAMMATORY MYOPATHIES. LABORATORY TESTS PRIOR TO DIAGNOSTIC IMAGING INVESTIGATIONS.

•NOSOCOMIAL INFECTIONS AND LABORATORY INVESTIGATIONS.

•LABORATORY MEDICINE AND FUNCTIONALITY OF THE GONADS. MEDICALLY ASSISTED PROCREATION. LABORATORY MARKERS IN PREGNANCY: MARKER OF DIAGNOSIS OF PREGNANCY, MARKER OF PHYSIOLOGICAL PREGNANCY AND CHILDBIRTH. MARKERS FOR THE EVALUATION OF POSSIBLE COMPLICATIONS IN PREGNANCY. FETAL DISTRESS MARKERS.
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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