Portal:Questions for final examination in pathobiochemistry (1.LF, GM)

Section I: Metabolites and enzymes

 * 1) Basic characteristics of IEM
 * 2) Pathogenic mechanisms of IEM
 * 3) IEMs of small molecules
 * 4) IEMs of complex molecules
 * 5) Classification of lysosomal storage disorders and pathogenic mechanisms
 * 6) Mucopolysaccharidoses and glycoproteinoses
 * 7) Lipidoses and deficiencies of hydrolases activators
 * 8) Peroxisomal disorders
 * 9) Mitochondrial disorders caused by deficiencies of enzymes in respiratory chain and citric acid cycle
 * 10) Mitochondrial disorders caused by mutations in mitochondrial DNA
 * 11) Disorders of mitochondrial beta oxidation of fatty acids
 * 12) Starvation and disorders of ketone bodies production
 * 13) Liver glycogenoses
 * 14) Muscle glycogenoses and M.Pompe
 * 15) Hereditary disorders of galactose and fructose metabolism
 * 16) Hereditary disorders of protein glycosylation (CDG syndromes)
 * 17) Disorders of aromatic and branched-chain amino-acids
 * 18) Urea cycle disorders
 * 19) Dietary and genetic disorders of folate, cobalamine, and sulfur amino  acid  metabolism
 * 20) Disorders of amino acid metabolism and of creatine synthesis
 * 21) Disorders of uric acid metabolism
 * 22) Disorders of purine and pyrimidine metabolism
 * 23) Hepatic porphyrias
 * 24) Cutaneous porphyrias
 * 25) Methods for diagnosis of IEM
 * 26) Neonatal and selective screening for IEMs
 * 27) Treatment of IEMS affecting small molecules- principles and examples
 * 28) Treatment of IEMs affecting complex molecules-principles and examples

Section II: Metabolism of information

 * 1) Mechanism of tumor disease formation – overview
 * 2) Physical factors participating in tumor induction
 * 3) Chemical carcinogenesis
 * 4) Viral carcinogenesis
 * 5) Mechanisms of tumor transformation
 * 6) Disorders of cell signaling pathways resulting in uncontrolled proliferation of tumor cells
 * 7) Disorders of apoptotic signaling pathways in tumor cells
 * 8) Disorders of DNA repair mechanisms in tumor cells
 * 9) Molecular mechanisms of neovascularization and ways of their medical modification
 * 10) Angiogenesis and neovascularization (differences, medical modification)
 * 11) Molecular mechanisms of metastases formation, ways of medical modification
 * 12) Selection of resistant tumor clones, medical modification
 * 13) Tumor microenvironment: relationships among transformed cells and tumor stroma
 * 14) Tumor stroma as a target for therapy
 * 15) Pathology of signaling cascades regulating cellular proliferation: concept and examples
 * 16) Targeted therapy: examples of therapeutical intervention at the molecular level in oncology
 * 17) Hereditary cancer syndromes and sporadic tumor diseases
 * 18) Techniques for analysis of mutations in inherited predispositions to cancer
 * 19) Analysis of somatic mutations and microsatellite markers in sporadic tumors
 * 20) Possibilities of detection of minimal residual disease
 * 21) Purpose and types of anti-cancer treatment
 * 22) Types of chemotherapeutics, their undesirable effects
 * 23) Biochemical principles of chemotherapy and radiotherapy
 * 24) Biochemical principles of hormonal and targeted therapy
 * 25) Description and role of tumor markers in anti-cancer treatment
 * 26) Sensitivity and specificity of tumor markers, examples
 * 27) Cancer-and tissue-specific tumor markers, examples
 * 28) Tumor markers - application and interpretation: screening, monitoring, diagnosis

Section III: The inner environment and limits of its maintenance

 * 1) Metabolic acidosis, its causes and consequences
 * 2) Metabolic alkalosis, its causes and consequences
 * 3) Combined disorders of acid-base equilibrium
 * 4) Relations between acid-base equilibrium and concentration of ions. Changes in ionogram in disorders of acid-base equilibrium. Changes in acid-base equilibrium in disorders of ion metabolism.
 * 5) Principal reactive oxygen and nitrogen species: properties, reactions, main sources in the body, role in pathogenesis
 * 6) Physiological role of reactive oxygen species in metabolism: tissue hormones, phagocyte weapons, hydroxylases, redox signaling
 * 7) Lipid peroxidation as an example of oxidative damage to biomolecules. Significance of transition metals (iron, copper) in pathobiochemistry of reactive oxygen species.
 * 8) Antioxidant defense of human body
 * 9) Biochemical basis of ageing. Radical/mitochondrial theory, ageing as catabolic failure, relationship to chronic inflammation
 * 10) Role of mitochondria in cell death (apoptosis and necrosis) and physiological ageing
 * 11) What a cell needs to become immortal? Autophagy, Hayflick limit, telomerase
 * 12) Difference between average life expectancy and maximum lifespan. Role of genes, theory of antagonistic pleiotropy, present possibilities how ageing can be affected by lifestyle: caloric restriction, physical activity, diet composition.
 * 13) Metabolic syndrome and insulin resistance – characteristic, cause and implication, possible therapeutic approach
 * 14) Formation of AGEs, interaction AGE -RAGE, potential mechanisms to reduce formation/effect of AGEs
 * 15) Mechanisms of hyperglycemia-induced tissue damage
 * 16) Carbonyl stress, its role in pathogenesis of long-term diabetic complications, atherosclerosis and renal failure
 * 17) Role of LDL in atherosclerosis
 * 18) Role of HDL in atherosclerosis
 * 19) Explain the biochemical processes during initial stages of atherosclerosis
 * 20) Role of monocytes/macrophages, endothelium, smooth muscle cells and T lymphocytes in atherosclerosis
 * 21) Rules of protein folding
 * 22) Role of chaperones, proteasomes and lysosomes in the cell
 * 23) Mechanism of prion diseases
 * 24) Origins of pathological conformation of proteins and examples of clinical consequences
 * 25) Endoplasmic reticulum stress
 * 26) Metabolic alterations in cell during anoxia, ischemia, and postischemic reperfusion
 * 27) Excitotoxicity in pathogenesis of CNS disorders
 * 28) General mechanisms of neuronal cell death in neurodegenerative diseases