Information updated until 30/06/2026 CODE 104202 ACADEMIC YEAR 2026/2027 CREDITS 6 cfu anno 2 BIOLOGIA APPLICATA E SPERIMENTALE 11932 (LM-6 R) - GENOVA SCIENTIFIC DISCIPLINARY SECTOR BIO/12 LANGUAGE Italian TEACHING LOCATION GENOVA SEMESTER Annual MODULES Questo insegnamento è un modulo di: LABORATORY MEDICINE AIMS AND CONTENT LEARNING OUTCOMES 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: i) to identify the most appropriate laboratory tests to address specific diagnostic hypotheses, ii) to evaluate the results in terms of confirming or disproving these hypotheses, and iii) to 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. SYLLABUS/CONTENT HEMATOLOGIC DIAGNOSTICS The CBC Iron metabolism Anemias (morphological and etiological classification) Hemoglobinopathies (thalassemia syndromes and structural hemoglobin variants) Hemostasis Markers of hemorrhagic/thrombotic risk DIABETES MELLITUS 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 LABORATORY Steroid, peptide and aminoacid--derived hormones: function, basal levels and conditions of hyper-/hypo-secretion Lab tests exploring thyroid function and thyroid autoimmune diseases THE LABORATORY IN CNS DISEASES The CSF, production, functions, CSF test (normal and pathological values of cytometric and biochemical tests) CSF markers of Alzheimer's disease and dosing methods Labboratory markers of Multiple Sclerosis Diagnosis and Assay Methods THE LABORATORY IN DISEASES OF THE GASTRO-INTESTINAL TRACT Classification of adverse reactions to food Laboratory tests for the diagnosis of allergies (IgE-mediated), food intolerance and celiac disease Stool occult blood detection assays THE LABORATORY IN AUTOIMMUNE DISEASES Organ-specific and systemic autoimmune diseases Autoantibodies in diagnostics, follow-up and prognosis Assay methods for autoantibodies in Systemic lupus erythematosus/ systemic sclerosis/rheumatoid arthritis/ primary biliary cholangitis/autoimmune The endocrinological lab THE LAB IN PEDIATRIC DISEASES The neonatal extended screening Differential diagnosis in childhood obesity 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 conclude with high resolution mass spectrometry. BIG DATA ANALYSIS Main tests and algorithms that can be used in omics sciences, from contingency tables to define diagnostic specificity and sensitivity, to artificial intelligence algorithms. RECOMMENDED READING/BIBLIOGRAPHY The course handouts and slides are available to students on the web classroom 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 GIAMPAOLA PESCE 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 The timetable for this course is available here: Portale EasyAcademy EXAMS EXAM DESCRIPTION The exam will consist of a written test (30 multiple-choice questions, 4 answers for each question, one correct answer, no negative points for wrong answers, 15 minutes time), taken in person or on a digital platform in case of weather/health emergencies. Please refer to the specific AulaWeb page of the course for updates. The test is passed with at least 18/30. The final grade will be the result of the average of the grades obtained for the two modules. The two parts of the exam can be taken on different dates; the grade obtained for a module remains valid for all exam sessions of the academic year. 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. FURTHER INFORMATION Students with a certification of physical or learning disability filed at the University can find information about support services on the web page https://unige.it/disabilita-dsa, prepared by the "Sector for Services for the Inclusion of Students with Disabilities and with Learning Disabilities". It is also possible to contact Professor Cristina Carbone (cristina.carbone@unige.it), DISTAV representative for disabilities.