DEPARTMENT OF CLINICAL AND MOLECULAR BIOCHEMISTRY COURSE IN LABORATORY DIAGNOSTICS FOR STUDENTS OF FACULTY OF MEDICINE

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1 DEPARTMENT OF CLINICAL AND MOLECULAR BIOCHEMISTRY COURSE IN LABORATORY DIAGNOSTICS FOR STUDENTS OF FACULTY OF MEDICINE The name of Unit in which the subject is realized Department of Clinical and Molecular Biochemistry Head Prof. dr hab. Andrzej Ciechanowicz Total hours: 55 hours: 10 h of seminars 45 h of practice classes ECTS: 6 Aims of teaching The objective of the course is to enable the students to consolidate their knowledge gained at basic science departments, and to develop an understanding of the application of that knowledge in a practical context with relation to laboratory diagnostics. The course also covers the basic concepts of molecular biology techniques applied to laboratory medicine. At the end of the course students should be able to choose the most appropriate set of tests and to interpret the laboratory test results in relation to other test results and the clinical condition. FORMS OF ACTIVITIES Subject of Laboratory Diagnostics is carried out in VI and VII terms. The course is taught in a seminar form with active student participation and during practice hours. The knowledge of current topic is obligatory and it is evaluated before the seminar by an entrance test. 1. Seminars include 5 h in VI term and 5 h in VII term. 2. Practice classes include 20 h in VI term and 25 h in VII term. Depending on the topic practice classes cover in-depth clinical case discussion with a special emphasis on differential diagnosis or teaching activities using laboratory facilities. 3. The examination. There will be a final examination at the end of the course. The final exam test consists of 40 single choice questions and has the possibility of two retakes.

2 PROGRAM OF LABORATORY DIAGNOSTICS VI SEMSTER I. Introducing clinical biochemistry (ICB) 1. The clinical biochemistry laboratory a. The use of biochemical tests b. Core biochemistry c. Specialized test 2. The use of the laboratory a. Specimen collection b. Sampling errors pre-laboratory errors c. Case history 3. The interpretation of results a. Variation in results i. Precision and accuracy ii. Analytical sensitivity and specificity iii. Specificity and sensitivity of tests iv. Reference intervals b. Analytical problems laboratory errors c. Interpretive problems post-laboratory errors II. Water and electrolyte metabolism (WEM) 1. Fluid and electrolyte balance a. Body fluid compartments b. Electrolytes c. Concentration d. Osmolality e. Oncotic pressure 2. Water and sodium balance a. Water b. AVP and the regulation of osmolality c. Sodium d. Regulation of volume 3. Hyponatraemia: pathophysiology a. Development of hyponatraemia b. Water retension c. Sodium loss d. Pseudohyponatraemia e. Assessment and management 4. Hypernatraemia a. Water loss b. Sodium gain c. Clinical features 5. Potassium disorders a. Potassium metabolism b. Serum potassium c. Hyperkalaemia d. Pseudohypekalaemia e. Hypokalaemia 6. Case history 2

3 III. Acid-base balance (ABB) 1. Acid-base concepts a. H + concentration and production b. Buffering c. H + excretion in the kidney d. Assessing status 2. Acid-base disorders a. Metabolic acidosis b. Metabolic alkalosis c. Respiratory acidosis d. Respiratory acidosis e. Mixed acid-base disorders 3. Acid-base diagnosis and management a. Specimens for blood gas analysis b. Interpreting results c. Clinical cases 4. Oxygen transport a. Normal oxygen transport b. Respiratory failure IV. Investigation of renal function (IRF) 1. Urinalysis a. Procedure: appearance, specific gravity, ph, glucose, protein, blood, leucocytes, bilirubin, urobilinogen, ketones, nitrite b. Microbiological testing c. Case history 2. Renal function tests a. Function of the kidney b. Tests of glomerular function c. Urine collections d. Renal tubular function e. Specific tubular defects 3. Acute renal failure 4. Chronic renal failure V. Red blood cells (RBC) 1. Erythropoiesis 2. Definition of anemia 3. Etiology of anemia: blood loss, deficient erythropoiesis, excessive hemolysis 4. Laboratory evaluation of RBC: RBC indices (MCV, MCH, MCHC, RDW), peripheral blood smear, bone marrow aspiration 5. Deficiency anemias: iron, vitamin B 12, folic acid 6. Anemia of chronic diseases 7. Clinical cases VI. White blood cells (WBC) 1. Laboratory evaluation of leucocytes 2. Quantitive description: leucocytosis, leucopenia 3. WBC differential: neutrophilia, neutropenia, lymphocytosis, lymphopenia, monocytosis, eosinophilia 4. Absolute and relative lymphocytosis 3

4 5. Myeloproliferative disorders: essential thrombocythemia (ET), myelofibrosis, polycythemia vera (PV), chronic myelocytic leukemia (CML) 6. Lymphoid malignancies 7. Myeloid malignancies 8. Clinical cases VII. Serum proteins (PRO) 1. Assessment of body protein pool and serum protein electrophoresis 2. Hyperproteinemia and hypoproteinemia 3. ESR erythrocyte sedimentation rate 4. Acute phase proteins (APP) a. Negative and positive 5. Immunoglobulins a. Paraproteins b. Multiple myeloma 6. Electrophoretic patterns 7. Case history VIII. Clinical enzymology (ENZ) 1. Indicatory, secretory and excretory enzymes 2. The enzymes of a diagnostic value: ALT, AST, CK, GGT, amylase, lipase 3. Isoenzymes and isoforms determination 4. Myocardial infarction a. Diagnosis (ECG) b. Cardiac markes: enzymatic and non-enzymatic IX. Gastrointestinal tract (GIT) 1. Liver function test (LFT s) a. Bilirubin b. AST and ALT c. ALP d. GGT e. Plasma proteins f. PT (prothrombin time) 2. Hepatocellular cancer (HCC) alpha-fetoprotein (AFP) 3. Hyperbilirubinemia jaundice a. Haemolytic b. Cholestatic c. Hepatocellular 4. Liver disease a. Acute and chronic liver disease b. Cirrhosis of the liver 5. Pancreatitis a. Acute and chronic pancreatitis b. Pancreatic cancer 6. Malabsorption 7. Clinical cases X. Glucose metabolism and diabetes mellitus (GDM) 1. Definition and description of diabetes mellitus 2. Classification of diabetes mellitus and other categories of glucose regulation: type 1, type 2, other types, gestational diabetes mellitus (GDM) 3. Diagnostic criteria for diabetes mellitus 4

5 a. Fasting plasma glucose (FPG) b. Oral glucose tolerance test (OGTT) 4. Pre-diabetes a. impaired glucose tolerance (IGT) b. impaired fasting glucose (IFG) XI. Coagulation disorders (COA) 1. Investigation of a patients with a suspected defect of haemostasis a. History b. Examination c. Laboratory screening tests: platelets (platelets count, blood film, bleeding time), vascular (bleeding time), coagulation (APTT, PT, TT, fibrinogen), fibrynolysis (ELT, TT, FDP) 2. Etiology of hemostasis disorders: a. Acquired: Vitamin K deficiency, liver disease, DIC, circulating anticoagulants b. Hereditary: Von Willebrand s disease, hemophilias, uncommon hereditary coagulation disorders 3. Defibrination syndromes: DIC vs primary activated fibrynolysis 4. Bleeding due to abnormal blood vessels XII. Calcium, phosphate and magnesium metabolism (CPM) 1. Regulation of calcium metabolism ionized calcium level 2. Hypocalcemia and tetany a. Hypoparathyroidism b. Pseudohypoparathyroidism c. Vitamin D deficiency d. Renal disease 3. Hypercalcemia principal causes a. Excessive bone resorption b. Excessive GI absorption c. Elevated plasma protein concentration 4. Hypophosphatemia 5. Hyperphosphatemia 6. Hypomagnesemia 7. Hypermagnesemia 8. Clinical cases XIII. Tumor markers (TUM) 1. Laboratory test in neoplastic diseases 2. Abnormal electrolyte results associated with tumors 3. The use of tumor markers a. Monitoring b. Follow-up (tumor recurrence) c. Diagnosis d. Prognosis e. Screening 4. Tumor markers with clinical value XIV. Lipoprotein metabolism (LIP) 1. Lipoprotein metabolism 2. Clinical disorders of lipid metabolism 3. Classification 5

6 a. Primary disorders b. Secondary disorders 4. Genetic causes of dyslipidaemia 5. Diagnosis and screening Friedewald formula 6. Atherogenic profiles 7. National Cholesterol Education Program Adult Treatment Panel III Approach to Dyslipidemias XV. Emergency laboratory (EML) 1. Unconsciousness - coma 2. Clinical cases 3. Revision of the material VII SEMESTER I. LABORATORY PRACTICE HOURS 1. Protein, Lipids, Urine and Coagulation Laboratories part I (coats required). 2. Protein, Lipids, Urine and Coagulation Laboratories part II (coats required). II. ENDOCRINOLOGY 3. Endocrinology: the hypothalamo-pituitary axis, pituitary function, pituitary tumors. 4. Thyroid pathophysiology: hypothyroidism 5. Thyroid pathophysiology: hyperthyroidism 6. Adrenocortical pathophysiology: hypofunction of adrenal cortex. 7. Adrenocortical pathophysiology: hyperfunction of the adrenal cortex. III. MOLECULAR DIAGNOSTICS 8. Basic molecular biology: extraction of nucleic acids, nucleic acids blotting techniques, the polymerase chain reaction (PCR). 9. Single-nucleotide polymorphisms testing DNA variation, DNA sequencing. 10. Applications of molecular diagnostics for genetic disorders, human cancers, infectious diseases. IV. SPECIALIZED INVESTIGATIONS 11. Laboratory diagnostic in hypertension. Investigation of the hypertensive patient. Secondary hypertension. 12. Metabolic syndrome. Hyperuricaemia. 13. Screening the newborn for disease. Inborn error of metabolism. 14. Porphyrias. 15. Investigation of unconscious patient. Exam revision. Textbooks Clinical Biochemistry. Allan Gaw, Michael J. Murphy, Robert A. Cowan 6