Medicine and Surgery

Contents: 1) Disorders of Nucleotide Metabolism; Gout. 2) Porphyrias. 3) Heme degradation; bilirubin and icterus (jaundice); liver functions. 4) Plasma Proteins. 5) Lipoproteins and dislipidemias; functions of the adipose tissue; obesity 6) Disturbances of the homeostasis of water and electrolytes; kidney functions. 7) Disturbances of the homeostasis of respiratory gases and pH; lung functions. 8) Disturbances of glucose metabolism. Diabetes. 9) Disturbances of the urea cycle. 10) Laboratory analyses for endocrine disorders. 11) The biochemistry of inherited enzymatic defects 12) Genetic defects of metabolism: glycogenoses and lipidoses 13) Genetic defects of metabolism of aminoacids 14) Hypervitaminoses and hypovitaminoses 15) Principles of clinical reasoning; the problem of cancer 16) Professional Activity: Standard blood tests 17) Professional Activity: Standard urine tests

Requirements: An intermediate level knowledge of general chemistry, organic chemistry and biochemistry is required..

Suggested textbooks: Michael Laposata: Laboratory Medicine: The Diagnosis of Disease in the Clinical Laboratory (LANGE Basic Science)

mandatory

Evaluation methods: The final examination is an oral in person interview with the candidate and covers the whole program of the Course. It is possible to take an ongoing examination, only at the end of the first semester (February session). The students are required to register to the exam on Infostud. The date indicated on Infostud is the first day of a period (usually a week) where the exam can take place; the effective location, date and time of the exam are communicated via Infostud at the end of the registration period. It is possible that the exam is delayed by a few days, with respect to the date indicated on Infostud, due to previously unforeseen duties of the teachers. A typical question may be as follows: A breast-fed baby presents retarded growth. The hemocytometric analysis reveals: Hemoglobin 8 g/dL Erythrocyte count 2.7 millions/uL Mean corpuscular volume 102 fL. Name this condition; write down at least three possible causes; indicate the laboratory tests to distinguish among the cause you indicated. Expected answer: The condition is macrocytic anemia. Possible causes of macrocytic anemia are: folate deficicency vitamin B12 deficiency orotic aciduria due to inhierited deficiency of the enzyme . Appropriate laboratory tests are: measurement of folate and vitamin B12 cocentration in the serum and urine; Schilling test; measurement of orotic acid in the serum and urine; sequencing of the gene of orotate PRPP transferase.

Teaching methods: Oral lectures.