Glucose metabolism. Digestion and absorption of carbohydrates. Synthesis and degradation of glycogen. Anabolism and catabolism of glucose. Mechanisms of regulation of glucose metabolism.
Lipid metabolism. Digestion and absorption. Anabolism and catabolism of fatty acids. Ketogenesis. Regulation of lipid metabolism. Mention on the metabolism of phospholipids and steroids.
Protein metabolism. Digestion and absorption. Enzymatic hydrolysis of proteins. Mechanism of action of some peptidase.
Catabolism of amino acids. Urea synthesis. Regulation of amino acid metabolism. Protein synthesis.
Citric acid cycle (Krebs Cycle). Biological oxidations and bioenergetics. Energetic meaning of oxidative reactions. The redox potential. The mitochondrion: shuttle mechanisms for the transport of electrons, the respiratory chain . Energy reserves. Uncoupling agents. ROS. Lipid peroxidation. Antioxidant enzymes.
Metabolic Diseases subjected to Expanded Newborn Screening . Organic Acid Disorders, fatty acid oxidation disorders, Amino Acids Metabolism Disorders, urea cycle disorders, diagnostic and confirmation tests and therapy. Second tier test.
Statistical tools . Analytical performance evaluation (Accuracy, Precision, LOD, LOQ), Diagnostic tests and ROC Curves analysis. “Brain-to-Brain loop” process. Pre-analytical step, Biological Variability, Sample Variability, Indicators of Quality, Sources of Error.
The Blood: Arterial, Venous and Capillary. Arterial blood gas (ABG) test: pathophysiology, oxygenation status and acid–base balance. Diagnostic Haematology: Red blood cells (RBCs), white blood cells (WBCs), and platelets. Blood Smear, Hematocrit (Hct), Hemoglobin (Hgb), Mean Corpuscular Volume (MCV), Mean Corpuscolar Haemoglobin (MCH ), Mean Corpuscular Hemoglobin Concentration (MCHC), Red Cell Distribution Width (RDW). Platelet indices (PI): mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT).
Dyslipidaemias. Plasma lipoproteins (LDL, VLDL, Chylomicrons, HDL, Lp (a)), LDL Receptor, LPL. Lipoprotein metabolism, exogenous and endogenous. Dyslipidemias, Fredrickson classification, Pathogenetic classification. Lipid profile and diagnosis.
Diagnostic Enzyme. Plasma concentration of enzymes (Release and Clearance). Muscle, Liver, Pancreatic, Bone and Cardiac Enzymes. Techniques for measuring the enzymatic activity of the main enzymes of diagnostic interest.
Serum protein electrophoresis. Electrophoretic techniques and application to plasma cell dyscrasias.
Kidney: urine formation and laboratory diagnostics, biomarkers of kidney diseases, acid-base balance, classification of kidney diseases. Chemical-physical and morphological examination of urine.
Diabetes. Classification, Blood sugar, diagnosis and complications.