23104 - Clinical Pathology

Learning outcomes

The student, at the end of the course, is capable, thanks to the acquisition of fundamental notions for critical evaluation, of interpreting, to the extent of competence, the results of the main diagnostic laboratory investigations, cytogenetics, and molecular diagnostics.

Course contents

Module 1

- The blood composition. Plasma, serum and corpuscular component; complete blood count (CBC); ABO and Rh blood group systems (3 hours).

- Laboratory tests for the diagnosis of anemia. Diagnosis and classification of anemia; microcytic anemia (iron deficiency and thalassemia); normocytic anemia (decreased red blood cell production, acute blood loss, hemolytic disorders), megaloblastic anemia (vitamin B12 or folic acid deficiency) (3 hours).

- Laboratory test for the diagnosis of coagulation disorders. Laboratory tests for the evaluation of platelet function, coagulation cascade and hypercoagulability disorders (4 hours).

- Serum proteins. Serum protein electrophoresis (SPE); SPE patterns associated to specific diseases; acute phase reactants (APRs) and erythrocyte sedimentation rate (ESR) (2 hours).

- Laboratory tests for the diagnosis of lipid disorders. Plasma lipoproteins and their metabolism; lipoproteins and atherosclerosis; quantitative and qualitative analysis of plasma lipoproteins (3 hours).

- Laboratory tests for the diagnosis of diabetes. Classification of diabetes; metabolic effect of diabetes; laboratory tests for the diagnosis and for the follow-up of diabetic patients (3 hours).

- Laboratory tests for the diagnosis of acid-base disorders. Respiratory and metabolic acidosis and alkalosis; blood gas analysis in the simple and complex disruptions of acid-base balance (2 hours).

- Laboratory tests for the diagnosis of hepatic disorders. Bilirubin and urobilinogen; serum enzymes indicative of cytolysis and cholestasis; albumin/globulin ratio; coagulation factors (2 hours).

- Laboratory tests for the diagnosis of renal system disorders. Urine analysis (physical, chemical and microscopic examination); urea, creatinine and uric acid; clearance tests; functional tests (2 hours).

Module 2

- Principles of interpretation of laboratory data. Diagnostic and biological variability, precision and accuracy, sensitivity and specificity, errors and control of methods in clinical laboratory tests; reference intervals (3 hours).

- Genetic testing. Biochemical techniques (for cystic fibrosis, phenylketonuria, thalassemia), Molecular techniques: 1. Indirect genetic testing (length polymorphisms, SNPs); 2. Direct genetic testing (Techniques for the detection of known mutations, Techniques for the detection of unknown mutations). Molecular diagnostic approaches based on DNA sequencing (automatic sequencing, next generation sequencing) (9 hours).

- Newborn screening test. Principles and main applications; expanded screening (2 hours).

- Molecular diagnostics on biological fluids (liquid biopsy). Current applications and perspectives (2 hours)

- Diagnostics in personalized medicine (precision medicine). Principles and impact on therapeutic appropriateness (2 hours)

- The laboratory in applied research to ribosomopathies. Congenital dyskeratosis linked to the X chromosome, Diamond Blackfan anemia, tumors as acquired ribosomopathies (3 hours).

Readings/Bibliography

The book reported below is not necessary for passing the exam but it is strongly recommended for the deepening of the topics dealt with in the course and for a consultation following the achievement of the degree.

- Marcello Ciaccio e Giuseppe Lippi: Biochimica Clinica e Medicina di Laboratorio. Terza edizione, 2020 EdiSES Università S.r.l . - Napoli.

Teaching methods

The teaching activity will be carried out through frontal lectures and will be complemented by critical reading and discussion of relevant scientific papers within the topics covered in class: attendance is strongly recommended to achieve the educational objectives and to pass the exam.

As concerns the teaching methods of this course unit, all students (including all the international incoming exchange students, i.e. ERASMUS) must attend Module 1, 2 online [https://www.unibo.it/it/servizi-e-opportunita/salute-e-assistenza/salute-e-sicurezza/sicurezza-e-salute-nei-luoghi-di-studio-e-tirocinio ], while Module 3 on health and safety is to be attended in class. Information about Module 3 attendance schedule is available on the website of your degree programme ("studiare"--"formazione obbligatoria su sicurezza e salute").

Assessment methods

The final examination aims to assess that the student has acquired the fundamental notions for a critical evaluation of the results of the main clinical laboratory tests which characterize the following pathological conditions: anemia, coagulation disorders; lipid disorders; hepatic disorders, renal disorders; diabetes; acid-base disorders. Learning of the following will also be assessed: general principles of interpretation of laboratory data; genetic tests (including neonatal screening tests), including their practical applications in the laboratory; precision medicine; liquid biopsy and its applications; ribosomopathies.

Student learning will be checked at the end of the course through a test divided into two parts. The first part consists in carrying out a test consisting of 20 multiple choice questions with 4 possible answers, of which only one is correct; 1 point will be awarded for each correct answer, without any penalty in the event of a wrong or missing answer. The second part consists in the answer to 2 open questions, referring to each of the 2 modules; each answer will be awarded from 0 to 6 points based on the candidate's ability to present the arguments in a correct, concise and complete way. The maximum time for performing the test will be 50 minutes. The student needs to reach 18 points to pass the exam. The final grade will be derived from the sum of the points acquired in both parts. The examination is passed having acquired at least 18 points. Honors will be awarded to candidates who have achieved a total of 31 or 32 points. To take the test, students will need to register via AlmaEsami by the deadline set by the application and are required to know their Institutional credentials.

Teaching tools

The slides shown during the lessons are available at the Web site: https://virtuale.unibo.it/ Username e password are reserved to students of Bologna University.

Office hours

See the website of Marianna Penzo

See the website of Davide Trerè