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
2021/2022

OBBLIGATORIO
YEAR OF COURSE 3
YEAR OF DIDACTIC SYSTEM 2016
PRIMO SEMESTRE
CFUHOURSACTIVITY
2MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD SCIENZE TECNICHE DI MEDICINA E DI LABORATORIO
448LESSONS
3MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD PATOLOGIA CLINICA
224LESSONS
4MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD GENETICA MEDICA
336LESSONS
Objectives
EDUCATIONAL OBJECTIVES
AT THE END OF THE COURSE THE STUDENT WILL BE ABLE TO USE RATIONALLY THE LABORATORY TEST IN ORDER TO OPTIMIZE THE DIAGNOSTIC-THERAPEUTIC PATHWAYS. STUDENTS WILL CRITICALLY EVALUATE THE DIAGNOSTIC METHODOLOGIES AND THE MEANING OF THE CLINICAL RESULTS OBTAINED IN DIFFERENT PATHOLOGICAL CONDITIONS. STUDENT WILL BE ALSO ABLE TO EVALUATE THE ANALYTICAL AND BIOLOGICAL CIRCUMSTANCES THAT CAN LEAD TO A MISINTERPRETATION OF THE RESULTS AND TO RELATE THEM TO THE DIFFERENT PHYSIOPATHOLOGICAL SITUATIONS TO ARRIVE AT A FINAL MEDICAL DECISION.
DUBLIN DESCRIPTORS
ACCORDING TO THE DUBLIN DESCRIPTORS, AT THE END OF THE COURSE AND TO PASS THE EXAM, THE STUDENT MUST DEVELOP:
• A KNOWLEDGE AND A DEEP UNDERSTANDING OF THE MAIN PROCESSES IN MEDICAL GENETICS, CLINICAL PATHOLOGY AND THE PRE-ANALYTICAL, ANALYTICAL, POST-ANALYTICAL PRINCIPLES OF LABORATORY TECHNIQUES. KNOWING THE STANDARD VALUES OF CLINICAL LABORATORY TEST IN ORDER TO DIFFERENTIATE PHYSIOLOGICAL AND PATHOLOGICAL CONDITIONS. A DEEP UNDERSTANDING AND CRITICAL EVALUATION OF LABORATORY AND DIAGNOSTIC TEST INTERPRETATION
• A THEORETICAL KNOWLEDGE OF THE CLINICAL AND LABORATORY FIELD, BY RECOGNIZING THE GENERAL DIAGNOSTIC ASPECTS OF GENETIC, BIOCHEMICAL, HAEMATOLOGICAL AND INFECTIOUS DISEASES. THE STUDENT MUST TO DISCUSS AND PERFORM CORRELATIONS ON SIMPLE DATA OR HYPOTHESES AND TO BE AWARE OF THE USEFULNESS OF THE MAIN GENETIC, HAEMATOLOGICAL AND BIOCHEMICAL PROFILES IN ORDER TO PROVIDE A DIFFERENTIAL DIAGNOSIS BASED ON SPECIFIC CLINICAL DATA.
• THEORETICAL SKILLS TO INDEPENDENTLY AND CRITICALLY EVALUATE ANY DIFFERENT OPINIONS PRESENT IN CERTAIN TOPICS COVERED IN THE COURSE. RECOGNIZE THE FUNDAMENTAL ROLE OF A CORRECT THEORETICAL KNOWLEDGE OF THE SUBJECT IN CLINICAL PRACTICE AND IN THE FUTURE MEDICAL PROFESSION.
• SKILLS TO PRESENT THE ARGUMENTS ORALLY IN AN ORGANIZED WAY AND WITH SEMANTIC APPROPRIATENESS AND IN ACCORDANCE WITH THE TOPIC OF DISCUSSION. AT THE SAME TIME KNOWING HOW TO COMMUNICATE CRITICALLY WITH THEIR PEERS ON THE TOPICS STUDIED AND TO SUPPORT INTERDISCIPLINARY ARGUMENTS.
• AWARENESS OF THE IMPORTANCE OF THE ACQUIRED SKILLS IN THE MEDICAL CAREER IN THE FUTURE.
Prerequisites
A COMPREHENSIVE KNOWLEDGE OF HUMAN PHYSIOLOGY AND GENERAL PATHOLOGY AND PHYSIOPATHOLOGY IS REQUIRED.
Contents
THE COURSE IS DIVIDED INTO 3 MODULES, CALLED MEDICAL GENETICS, CLINICAL PATHOLOGY AND TECHNICAL SCIENCES OF MEDICINE AND LABORATORY

MEDICAL GENETICS
CONCEPTS OF REPLICATION AND TRANSCRIPTION OF DNA: PROTEIN SYNTHESIS
MUTATIONS, RARE VARIANTS AND POLYMORPHISMS
GENEALOGICAL 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
KARYOTYPE 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

CLINICAL PATHOLOGY
• REFERENCE VALUES, SENSITIVITY AND SPECIFICITY, INTER AND INTRA-INDIVIDUAL VARIABILITY
• ASPECT OF TRANSFUSION MEDICINE: BLOOD, MORPHOLOGICAL EXAMINATION AND COUNTING OF BLOOD CELLS, ANTICOAGULANTS, PROTIDOGRAM, IMMUNOLOGY: INNATE AND ADAPTIVE IMMUNITY, MYELOPOIESIS.
• TRANSFUSION MEDICINE: AB0 GROUP, RH, COOMBS TEST.
• EVALUATION OF ANEMIES, IRON DEFICIENCY ANEMIA, THALASSEMIA, HEMOGLOBINOPATHIES,
HEREDITARY SYNDROMES, METHODS: RBC INDICES, RETICULOCYTES COUNT, HB ELECTROPHORESIS, TEST FOR
HEMOGLOBINOPATHIES
• TESTS FOR THE STUDY OF IRON METABOLISM, SIDEREMIA, FERRITIN, TOTAL IRON-BINDING CAPACITY (TIBC), TRANSFERRINE AND TRANSFERRINE SATURATION, APTOGLOBINE.
• THE HEMOSTATIC FUNCTION AND THROMBOTIC RISK, HEMORRHAGIC DISEASES, THROMBOTIC DISEASES,
ALTERATIONS OF THE PLATELETS AND MAIN LABORATORY TEST.

LABORATORY MEDICINE:
• INTRODUCTION TO LABORATORY MEDICINE: BIOMARKERS, DEFINITION AND CLASSIFICATION, GENOMIC, PROTEIN AND METABOLOMIC BIOMARKERS. ANALYTICAL MEASURES: VARIABILITY, METHODS OF EVALUATION AND ESTIMATION OF THEIR CLINICAL IMPACT. BIOLOGICAL MATRICES
• METHODOLOGIES: VALIDATION OF METHODOLOGIES. GENERAL CONCEPTS: ANALYTICAL SENSITIVITY AND SPECIFICITY, PRECISION AND ACCURACY. LIMIT OF DETECTION (LOD), LIMIT OF QUANTITATION (LOQ). CLINICAL PERFORMANCE OF TESTS: DIAGNOSTIC SENSITIVITY AND SPECIFICITY. MAIN TECHNIQUES USED IN LABORATORY MEDICINE. PRINCIPLES OF IMMUNOCHEMISTRY.
• ELECTROLYTES AND ACID-BASE BALANCE.
• KIDNEY AND EXCRETORY TRACTS. RENAL FUNCTION. EVALUATION OF THE GFR. INULIN AND CREATININE CLEARANCE. BLOOD UREA NITROGEN. URIC ACID. NEPHROLOGICAL PATHOLOGIES. PHYSICO-CHEMICAL AND
MICROBIOLOGICAL ANALYSIS OF URINE. MICROSCOPIC EXAMINATION OF URINARY SEDIMENT.
• PANCREATIC AND INTESTINAL FUNCTION.
• INBORN ERRORS OF METABOLISM. GENERAL PATHOGENESIS. DISEASES OF ENERGY METABOLISM.
•PERINATAL SCREENING.
• ENDOCRINE SYSTEM. HYPO- AND HYPERFUNCTION OF THE ADENOHYPOPHYSIS. PATHOLOGIES OF THE NEUROHYPOPHYSIS. DOSAGES OF THE THYROID HORMONES T4 AND T3; TSH DETERMINATION. DETERMINATION OF ANTI-THYROID ANTIBODIES. THYROGLOBULIN. PARATHYROID GLANDS, ADRENAL GLANDS: LABORATORY INVESTIGATIONS. TESTIS AND OVARY: BASAL AND DYNAMIC HORMONAL INVESTIGATIONS.
•THE LABORATORY IN PREGNANCY: PHYSIOLOGICAL PREGNANCY AND CHILDBIRTH MARKERS. PREDICTIVE MARKERS OF PRETERM BIRTH.
• MUSCLE DISEASES. MYOPATHIES, DEFINITION. MUSCULAR, MYOTONIC, METABOLIC DYSTROPHIES. INFLAMMATORY MYOPATHIES.
• PATHOPHYSIOLOGY OF THE BONE. ELECTROLYTE AND HORMONAL BIOMARKERS. BIOMARKERS OF THE EXTRACELLULAR MATRIX AND CONNECTIVE TISSUE.
• NEUROLOGICAL DISEASES. ANALYSIS OF THE CEREBROSPINAL FLUID: MACROSCOPIC, MICROSCOPIC, CHEMICAL AND MICROBIOLOGICAL EXAMINATION.
• THERAPEUTIC DRUG MONITORING. INDICATIONS AND APPLICATIONS. METHODOLOGIES AND BIOLOGICAL MATRICES
USED IN TDM AND TOXICOLOGY. ANALYSIS OF PSYCHOACTIVE SUBSTANCES.
Teaching Methods
COURSE INFORMATIONS
THE COURSE IS DIVIDED INTO FRONTAL LESSONS (108 HOURS), CLASS EXERCISES (36 HOURS) THE FRONTAL LESSONS WILL ALLOW THE STUDENT TO ACQUIRE THE KNOWLEDGE OF MEDICAL GENETICS, CLINICAL PATHOLOGY AND MAIN LABORATORY TECHNIQUES USEFUL FOR THE QUALITATIVE AND QUANTITATIVE STUDY OF PATHOGENETIC DETERMINANTS AND RELEVANT PROCESSES IN MEDICINE.
THE EXERCISES WILL ALLOW THE STUDENT TO DEEPEN THE GENERAL DIAGNOSTIC ASPECTS OF GENETIC, BIOCHEMICAL, HAEMATOLOGICAL AND INFECTIOUS DISEASES.
Verification of learning
EVALUATION PROCESS
THE EXAM CONSISTS OF AN ORAL TEST AIMED AT VERIFYING THEORETICAL KNOWLEDGE OF THE FUNDAMENTALS OF MEDICAL GENETICS AND CLINICAL PATHOLOGY AND OF THE MAIN LABORATORY TECHNIQUES OF DIAGNOSTIC INTERVENTIONS AND THERAPEUTIC APPROACHES.
THE SCORE OF THE ORAL EXAM IS AIMED AT EVALUATING THE THEORETICAL IN-DEPTH STUDY OF THE STUDENT. THE MINIMUM MARK IN THE ORAL EXAM IS ACHIEVED BY THE STUDENT WHO DEVELOP KNOWLEDGE OF CONCEPTS OF MENDELIAN INHERITANCE, BLOOD COMPOSITION, AND INTERPRETATION OF THE MAIN LABORATORY TESTS. THE MAXIMUM MARK IS ACHIEVED WHEN THE STUDENT DEMONSTRATES THAT HE CAN CORRECTLY ILLUSTRATE AND DISCUSS THE MAIN TOPICS IN THE PROGRAM WITH THE ABILITY TO ANALYZE AND SYNTHESIZE CORRECTLY AND WITH A COHERENT LOGICAL ARGUMENT. EXCELLENCE REQUIRES ACHIEVING THE MAXIMUM SCORE IN ALL EXAM MODULES AND HAVING DEMONSTRATED AN EXCELLENT LEVEL OF KNOWLEDGE AND UNDERSTANDING OF THE TOPICS AND A STRONG ABILITY TO CORRECTLY APPLY THE METHODOLOGIES DESIGNED TO DETECT CLINICAL, FUNCTIONAL AND LABORATORY RESULTS, ALSO CRITICALLY INTERPRETING THEM FROM A PHYSIOPATHOLOGICAL POINT OF VIEW, FOR THE PURPOSES OF DIAGNOSIS AND PROGNOSIS.
Texts

TESTI DI RIFERIMENTO
APPUNTI DALLE LEZIONI

THOMPSON & THOMPSON-GENETICA IN MEDICINA
R. L. NUSSBAUM, R. R. MCLNESS, H. F. WILLIARD
ISBN: 978-88-795-9973-3

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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