LABORATORY MEDICINE AND INTEGRATED DIAGNOSTICS

Cristiana STELLATO LABORATORY MEDICINE AND INTEGRATED DIAGNOSTICS

1060100210
DEPARTMENT OF MEDICINE, SURGERY AND DENTISTRY "SALERNITANA MEDICAL SCHOOL"
EQF7
MEDICINE AND SURGERY
2024/2025

OBBLIGATORIO
YEAR OF COURSE 3
YEAR OF DIDACTIC SYSTEM 2016
AUTUMN SEMESTER
CFUHOURSACTIVITY
1MEDICINA DI LABORATORIO E DIAGNOSTICA INTEGRATA - MOD GENETICA MEDICA
336LESSONS
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
ExamDate
MEDICINA DI LABORATORIO E DIAGNOSTICA IN16/04/2025 - 09:00
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
• INTERPRETATION OF LABORATORY DATA. REPRODUCIBILITY MEASUREMENTS: ACCURACY, PRECISION; CHARACTERISTICS AND SIZE (SAMPLE SIZE) OF THE REFERENCE POPULATION; REFERENCE STANDARDS; CONCEPT AND CALCULATION FROM THE SENSITIVITY AND SPECIFICITY OF A TEST. THRESHOLD VALUE OF A TEST; POSITIVE/NEGATIVE PREDICTIVE VALUE OF A TEST; DEFINITION AND USE OF THE ROC CURVE.
CLINICAL PATHOLOGY OF INFLAMMATION. REFERENCES TO THE PATHOPHYSIOLOGY OF ACUTE AND CHRONIC INFLAMMATION. ACUTE PHASE PROTEINS. ERYTHROCYTE SEDIMENTATION RATE AND C-REACTIVE PROTEIN: DEFINITION, NORMAL VALUES AND THEIR DETERMINANTS; REFERENCE STANDARDS. MAIN CONDITIONS ASSOCIATED WITH THEIR INCREASE AND DECREASE, INTERFERING WITH A CORRECT INTERPRETATION. DIAGNOSTIC APPROACH TO PATIENTS WITH ALTERED ESR/PCR. MAIN PATHOLOGIES ASSOCIATED WITH ALTERATION OF ESR/PCR. DISCORDANT ESR/PCR VALUES. ALTERATIONS OF THE ELECTROPHORETIC PROTIDOGRAM.
COMPLETE BLOOD COUNT. COMPONENTS, MEASUREMENT METHODS, NORMAL REFERENCE VALUES IN ADULTS. BLOOD COUNT PARAMETERS OF LEUKOCYTES: LEUKOCYTE FORMULA. INITIAL DIAGNOSTIC APPROACH TO PATIENT WITH LEUKOCYTOSIS AND LEUKOPENIA. NEUTROPHILIA AND EOSINOPHILIA: DEFINITION AND MAIN CAUSES. MATURATION AND DISTRIBUTION OF NEUTROPHILS. NEUTROPHILIA ASSOCIATED WITH OTHER BLOOD COUNT CHANGES. NEUTROPENIA: DEFINITION AND MAIN CAUSES. BLOOD COUNT PARAMETERS OF THE ERYTHROID COMPARTMENT: DIAGNOSTIC APPROACH IN PATIENTS WITH ANEMIA: GENERAL CONCEPTS, CONCEPTS APPLIED TO IRON DEFICIENCY ANEMIA AND ANEMIA OF CHRONIC DISEASES WITH REFERENCE TO ASSOCIATED PATHOLOGIES AND SYMPTOMATIC PICTURES. BIOCHEMICAL EXAMINATIONS OF IRON METABOLISM, NORMAL PARAMETERS IN ADULTS, THEIR USE IN THE FIRST LEVEL DIFFERENTIAL DIAGNOSIS FOR ANEMIAS.
MAIN PATHOLOGICAL FINDINGS IN THE DIAGNOSIS OF PLASMA PROTEINS AND ENZYME BIOMARKERS.


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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