23104 - Clinical Pathology

Academic Year 2021/2022

  • Docente: Davide Trerè
  • Credits: 6
  • SSD: MED/05
  • Language: Italian
  • Moduli: Davide Trerè (Modulo 1) Marianna Penzo (Modulo 2)
  • Teaching Mode: Traditional lectures (Modulo 1) Traditional lectures (Modulo 2)
  • Campus: Bologna
  • Corso: Second cycle degree programme (LM) in Health Biology (cod. 9212)

Learning outcomes

To allow the students to acquire the fundamental notions for a critical evaluation and interpretation of the results of the main clinical laboratory tests, including cytogenetics and molecular diagnosis.

Course contents

Module 1

- The blood composition. Plasma, serum and corpuscular component; complete blood count (CBC); morphological features of the various blood corpuscular components ABO blood group system, Rh blood group system (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 and coagulation cascade; laboratory definition of the 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 books reported below are not necessary for passing the exam but they are strongly suggested for the deepening of the topics dealt with 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.

- Italo Antonozzi e Elio Gulletta: Medicina di Laboratorio: Logica & Patologia Clinica. Terza edizione, 2019 Piccin Nuova Libraria S.p.A. Padova.

Teaching methods

The teaching activity will be carried out through lectures and will be completed by critical reading and discussion of scientific papers relevant to the topics covered in the lectures;attendance at lessons is highly recommended for the achievement of the teaching objectives and for passing the exam.

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 based on 31 multiple choice questions (4 available answers, only one is correct). Each correct answer is worth one point: therefore, the final grade will correspond to the sum of the points acquired; 31 correct answers will be awarded with honors. The answers not correct or not given will not result in any penalty.

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 Davide Trerè

See the website of Marianna Penzo

SDGs

Good health and well-being

This teaching activity contributes to the achievement of the Sustainable Development Goals of the UN 2030 Agenda.