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Pathobiochemistry for 3rd year General Medicine students, winter term 2012/2013
The course is a series of lectures on metabolic basis of both hereditary and acquired diseases with emphasis on general pathogenetic mechanisms, rather than specific diseases. In addition, some general processes such as inflammation and allergy have been omitted on purpose, because they are taught later in specialized courses ( e.g. immunology) in much more detail than would have been possible in the limited number of lectures available for pathobiochemistry. Three areas of biochemical pathogenetic mechanisms form the backbone of the course: 1) hereditary metabolic disorders, 2) disorders of cell signaling (cancer in particular), and 3) disorders of the inner environment and limits of its maintenance (degenerative diseases, ischemia, and ageing). The lectures are given by teachers from The Institute of Inherited Metabolic Disorders, the Institute of Biochemistry and Experimental Oncology, and the Institute of Medical Biochemistry. This academic year (2012/2013) the course is organised by the The Institute of Inherited Metabolic Disorders.
The lectures are held according to the schedule (see "Syllabus") in the Lecture Hall of the Department of Stomatology, Kateřinská 32, the third floor, every Wednesday and Friday from 10.45 to 12.15. The first lecture will take place on Wednesday, 3rd. October, 2012 ("Introduction to biochemical genetics").
The lectures are non-mandatory and attendance is not taken. However, detailed knowledge of topics presented at the lectures will be required at the exam; therefore attendance at the lectures is highly recommended.
The subject ends with a credit and oral examination. The credit will be issued by the examiner at the oral exam without any specific formal requirements. Further information concerning the oral examination, including the new exam questions, and recommended study literature will be announced in the near future.
If you have any questions or comments, please contact
Martin Hřebíček, M.D., PhD. (martin.hrebicek@lf1.cuni.cz, tel. 2 2496 7208).
Last update: KOZ03304 (27.09.2012)
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Montgomery R., Conway T. W., Spector A. A.: Biochemistry,. A Case-Oriented Approach, 6 th ed., C. V. Mosby Co., 1996. Matouš B. et al. Základy lékařské chemie a biochemie. Galen, Praha 2010. Last update: Štípek Stanislav, prof. MUDr., DrSc. (01.02.2011)
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QUESTIONS on Pathobiochemistry 3rd year (2010/2011) (https://el.lf1.cuni.cz/p57939462)
Section I: "Metabolites and enzymes"
1. Basic characteristics of IEM. 2. Patogenetic mechanisms of IEM. 3. IEMs of small molecules. 4. IEMs of complex mollecules 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 or 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"
29. Mechanism of tumor disease formation - overview. . Physical factors participating in tumor induction. 31. Chemical carcinogenesis. 32. Viral carcinogenesis. 33. Mechanisms of tumor transformation. 34. Disorders of cell signaling pathways resulting in uncontrolled proliferation of tumor cells. . Disorders of apoptotic signaling pathways in tumor cells. 36. Disorders of DNA repair mechanisms in tumor cells. 37. Molecular mechanisms of neovascularization and ways of their medical modification. 38. Angiogenesis and neovascularization (differences, medical modification). 39. Molecular mechanisms of metastases formation, ways of medical modification. 40. Selection of resistant tumor clones, medical modification. 41. Tumor microenvironment: relationships among transformed cells and tumor stroma. 42. Tumor stroma as a target for therapy. 43. Pathology of signaling cascades regulating cellular proliferation: concept and examples. 44. Targeted therapy: examples of therapeutical intervention at the molecular level in oncology. 45. Hereditary cancer syndromes and sporadic tumor diseases. 46. Techniques for analysis of mutations in inherited predispositions to cancer. 47. Analysis of somatic mutations and microsatellite markers in sporadic tumors. 48. Possibilities of detection of minimal residual disease. 49. Purpose and types of anti-cancer treatment. 50. Types of chemotherapeutics, their undesirable effects. 51. Biochemical principles of chemotherapy and radiotherapy. 52. Biochemical principles of hormonal and targeted therapy. 53. Description and role of tumor markers in anti-cancer treatment. 54. Sensitivity and specificity of tumor markers, examples. 55. Cancer-and tissue-specific tumor markers, examples. 56. Tumor markers - application and interpretation: screening, monitoring, diagnosis.
Section III: "The inner environment and limits of its maintenance"
57. Metabolic acidosis, its causes and consequences. 58. Metabolic alkalosis, its causes and consequences. 59. Combined disorders of acid-base equilibrium. 60. 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. 61. Principal reactive oxygen and nitrogen species: properties, reactions, main sources in the body, role in pathogenesis. 62. Physiological role of reactive oxygen species in metabolism: tissue hormones, phagocyte weapons, hydroxylases, redox signaling. 63. Lipid peroxidation as an example of oxidative damage to biomolecules. Significance of transition metals (iron, copper) in pathobiochemistry of reactive oxygen species. 64. Antioxidant defense of human body. 65. Biochemical basis of ageing. Radical/mitochondrial theory, ageing as catabolic failure, relationship to chronic inflammation. 66. Role of mitochondria in cell death (apoptosis and necrosis) and physiological ageing. 67. What a cell needs to become immortal? Autophagy, Hayflick limit, telomerase. 68. 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. 69. Metabolic syndrome and insulin resistance - characteristic, cause and implication, possible therapeutic approach. 70. Formation of AGEs, interaction AGE -RAGE, potential mechanisms to reduce formation/effect of AGEs. 71. Mechanisms of hyperglycemia-induced tissue damage. 72. Carbonyl stress, its role in pathogenesis of long-term diabetic complications, atherosclerosis and renal failure. 73. Role of LDL in atherosclerosis. 74. Role of HDL in atherosclerosis. 75. Explain the biochemical processes during initial stages of atherosclerosis. 76. Role of monocytes/macrophages, endothelium, smooth muscle cells and T lymphocytes in atherosclerosis. 77. Rules of protein folding. 78. Role of chaperones, proteasomes and lysosomes in the cell. 79. Mechanism of prion diseases. 80. Origins of pathological conformation of proteins and examples of clinical consequences. 81. Endoplasmic reticulum stress. 82. Metabolic alterations in cell during anoxia, ischemia, and postischemic reperfusion. 83. Excitotoxicity in pathogenesis of CNS disorders. 84. General mechanisms of neuronal cell death in neurodegenerative diseases.
N.B. Although not explicitly stated, basic knowledge of the relevant chapters from normal (physiological) biochemistry will also be expected and required at the exam.
Last update: Stříbrná Jana, MUDr., CSc. (27.10.2010)
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The lectures take place each Wednesday and Friday at The Dept. of Stomatology Lecture Hall, Kateřinská 32, Praha 2,3rd. floor: Last update: Hřebíček Martin, MUDr., Ph.D. (04.10.2012)
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