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A. Evaluation of competence – knowledge

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  1. Aims: To generate in students the knowledge of nonmendelian monogenic human disease.
  2. An assessment of competences – knowledge.
  3. An assessment of competences – knowledge.
  4. An assessment of competences – knowledge.
  5. Assessment of competence skills
  6. Assessment of competencies - knowledge.
  7. CONTROL AND MEASURING MEANS FOR THE ASSESSMENT OF KNOWLEDGE, SKILLS IN MOLECULAR BIOLOGY AND MEDICAL GENETICS
  8. Evaluation of competence – knowledge
  9. Evaluation of competence – knowledge

i. Interrogation on questions of the theme

7.1.7 Test control – 2 variants, 10 questions each

7.1.8 Filling in the table Individual Sensitivity of the Human Organism to Action of Medicines in Case of Genetic Impairments.

Pos. Character of pharmacologic action of medicines in case of genetic impairments Impairment of ferment systems Type of inheritance
  Ditilin (for muscle relaxation) - respiratory arrest for 1 hour and more      
  Solution of oxygen peroxide for wound treatment is not efficient      
  Primaquine – hemolysis of erythrocytes      
  Absence of the bitter taste of phenylthiocarbamide      
  Isoniazid      

 

7.1.9 Filling in the table Response of the Organism for Medicinal Preparations

Response of the organisms for medicinal preparations Medicinal preparation Ferment insufficiency Description
Increased sensitivity      
Tolerance      
Paradoxality      

 

7.1.10 Solution of situation problems:

Match ferment impairments related to the following clinic situations:

a) Occurrence of hemolytic anemia after intake of Primaquine;

b) Long-term respiration arrest after intake of Ditilin;

c) A patient with lung tuberculosis has toxic reactions from use of Isoniazid

d) About 40% of Europeans do not fill bitter taste of phenylthiocarbamide

1 – anomalousacetyltransferase

2 – catalase deficit

3 – deficit of glucose-6-phasphatedehydrogenase

4 – anomalous pseudo cholinesterase

5 –tyrosinase deficit

7.1.11 Acatalasemia was discovered by otolaryngologist Takagara by accident during treatment with hydrogen peroxide of mucous membranes of the nasopharynx and mouth of a Japanese girl. During irrigation of the mucous membraneswith hydrogen peroxide, the blood turned brown. Later it was established that in case of acatalasemia ferment catalase is absent in blood of patients. Explain, why treatment of the wound with hydrogen peroxide is not efficient, i.e. action of the preparation is not seen, and what genotype the girl has.

7.1.12 In surgery for muscle relaxation, preparation Ditilin is used. Normally it arrests respiration (apnoea) for 2-3 minutes. In some patients after injection of Ditilin apnoea lasts for 1 hour and more. Such patients can be saved only with artificial lung ventilation for this time. Explain, deficit of what ferment and what type of inheritance of sensitivity to Ditilin cause such atypical reaction.

 


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