CODE 104202 ACADEMIC YEAR 2024/2025 CREDITS 6 cfu anno 2 BIOLOGIA APPLICATA E SPERIMENTALE 11158 (LM-6) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR BIO/12 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER Annual MODULES Questo insegnamento è un modulo di: LABORATORY MEDICINE TEACHING MATERIALS AULAWEB AIMS AND CONTENT AIMS AND LEARNING OUTCOMES The aim of the clinical biochemistry part of the course is to allow the student to acquire basic knowledge on the clinical-diagnostic significance of the laboratory tests that explore the function of specific organs/apparatuses. This knowledge will be applied to the discussion of simple case-studies, allowing the students to put into practice the basic knowledge acquired and test their understanding of laboratory tests. Students will realize the extent and severity of deviation from the normal range of the laboratory test discussed in the course during pathological conditions. Students will be able to identify the most appropriate laboratory tests to address specific diagnostic hypotheses and evaluate the results in terms of confirming or disproving these hypotheses. Finally, evaluate which "omics" technologies to apply to identify new diagnostic and prognostic biomarkers. TEACHING METHODS Face-to-face or video-recorded lessons (in presence), available on aulaweb Please refer to the AulaWeb instance specific to the teaching for any updates due to changes in the health and epidemiological situation. The lecture will present the various laboratory tests and simple case studies will be used to exemplify the clinical use of the tests for diagnosis, prognosis or disease exclusion. Students who have valid certification of physical or learning disabilities on file with the University and who wish to discuss possible accommodations or other circumstances regarding lectures, coursework and exams, should speak both with the instructor and with Professor Sara Ferrando (sara.ferrando@unige.it), the Department’s disability liaison. SYLLABUS/CONTENT Aims and learning outcomes The aim of the clinical biochemistry part of the course is to allow the student to acquire basic knowledge on the clinical-diagnostic significance of the laboratory tests that explore the function of specific organs/apparatuses. This knowledge will be applied to the discussion of simple case-studies, allowing the students to put into practice the basic knowledge acquired and test their understanding of laboratory tests. Students will realize the extent and severity of deviation from the normal range of the laboratory test discussed in the course during pathological conditions. Students will be able to identify the most appropriate laboratory tests to address specific diagnostic hypotheses and evaluate the results in terms of confirming or disproving these hypotheses. Finally, evaluate which "omics" technologies to apply to identify new diagnostic and prognostic biomarkers. Content Hematologic diagnostics The CBC Iron metabolism Anemias (morfological and eziological classification) Hemoglobinopathies (thalassemia syndromes and structural hemoglobin variants) Hemostasis Markers of hemorragic/thrombotic risk Diabetes Mellitus Diagnosis Hormones regulating glycemia Causes of hyper- and hypo-glycemia Diagnostic criteria for DM and GDM Lab tests in diabetic ketoacidosis; OGTT; HbA1c; ketone bodies Clinical cases of metabolic acidosis The endocrinological lab Steroid, peptide and aminoacid-derived hormones: functions, basal levels and conditions of increased and reduced secretion Lab tests exploring hormonal production: the hypothalamus/pituitary axis; thyroid function, surrenal and sex hormones The lab in pediatric diseases The neonatal extended screening Differential diagnosis in childhood obesity The lab in digestive diseases Inflammatory bowel diseases, celiac disease, breath tests, acute and chronic pancreatitis, FOB The lab in CNS diseases The CSF, production, functions, CSF test (normal and abnormal results of the cytometric and biochemical tests), markers of AD and C-J diseases, CSF leakage. The lab in respiratory diseases. Pneumonia, COPD, pulmonary embolism. The Omics Sciences A look at the future of clinical biochemistry in the identification of new diagnostic and prognostic biomarkers starting from one/two-dimensional electrophoresis, moving on to peptide and protein arrays to arrive at high resolution mass spectrometry. Big data analysis Main tests and algorithms that can be used in omics sciences from contingency tables to define specificity and diagnostic sensitivity to artificial intelligence algorithms. RECOMMENDED READING/BIBLIOGRAPHY on-line available (aula web) slides Common laboratory tests - Vaughn G. Appleton & Lange Medicina di laboratorio, M. Ciaccio et al., Edises TEACHERS AND EXAM BOARD ELENA ZOCCHI Ricevimento: By appointment via email (ezocchi@unige.it) at DIMES, Viale Benedetto XV No. 1, first floor, Genova. MAURIZIO BRUSCHI Ricevimento: On appointment , Prof. Maurizio Bruschi, IRCCS Istituto Giannina Gaslini. Laboratorio di Nefrologia Molecolare (Padiglione 12, fondi) Via Gerolamo Gaslini, 5 – 16147 Genova (GE) E-mail: maurizio.bruschi@unige.it LESSONS LESSONS START For lessons start and timetable go to the link: https://easyacademy.unige.it/portalestudenti/ Please check the module Aulaweb page for timetable updates dependent on the sanitary and epidemic situation. Class schedule CLINICAL BIOCHEMISTRY EXAMS EXAM DESCRIPTION The exam will consist of a written test (multiple-choice quiz) taken in-person or on a digital platform, consistent with University regulations regarding anti-covid safety standards. The test is passed with at least 18/30. Final grade will be averaged (weighted average) with that of Clinical Pathology. ASSESSMENT METHODS The exam will verify the achievement of the learning outcomes; in particular, it will ascertain the student's knowledge of the clinical meaning of the biochemical-clinical parameters presented during the lessons, of the unit of measure in which they are expressed and of their dynamic range in the main pathologies for which they represent a diagnostic-prognostic tool. The ability to choose, among some proposed tests, those suitable to solve a specific diagnostic question, and the ability to identify deviations from the norm indicative of pathology, will be evaluated.