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Solution of situational problems

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  1. Oral approach (situational language teaching).

1. A woman brought for medical-genetic consulting a 2-month child with disease state, manifesting with vomiting, jaundice, and body mass decrease. Clinical laboratory examination established: increase of liver, spleen, skin haemorrhages, blood galactose increase, and increase of acidic galactose decay products in the urine.

Diagnose the child’s disease (in capital letters) and possible methods of its treatment (in small letters)

A –phenylketonuria B – Garrod disease C – galactosemia a) replacement therapy b) diet therapy c) surgical treatment d) vitamin therapy e) hormone therapy

2. Spouses whose first-born child died at the age of 4 years with clinical signs of nervous system degradation (stopped walking, speak, recognize the parents) and blindness (amaurosis) went for medical-genetic consulting. Diagnose the child’s disease (in capital letters), type of inheritance, zygosity of the spouses, and probability of birth of the following child with such pathology (in small letters)

A –phenylketonuria B – Lesch-Nyhan syndrome C – Tay-Sax syndrome a) autosomal-dominant b) autosomal-recessive c) linked with X-chromosome d) linked with Y-chromosome e) Aa, Aa f) AA, Aa g) aa, aa h) 25% i) 50% j) 75%

3. Parents of a 3-year retarded child with tailor’s pose. Clinical laboratory examination established: increase of liver, spleen, decrease of level of phenyl-lactic acid and phenyl-pyroracemic acid in blood and urine (Fehling’s test is positive). Diagnose the child’s disease (in capital letters), typeof inheritance, genotype of the parents and the child (in small letters)

A –Garrod disease B – congenital achromatosis C – phenylketonuria a) autosomal-dominant b) autosomal-recessive c) linked with X-chromosome d) Aa, AA, Aa e) Aa, Aa, aa  

4. The disease is spread in the countries of the coats of the Mediterranean Sea and tropical countries. The type of inheritance is autosomal-dominant with incomplete dominating. It is manifested in homozygotes in heavy form and leads to death before the puberty, and in heterozygotes is manifested in a sub-clinical (mild) form. Determine the name of the disease and the symptoms that are typical for this pathology.

a) phenylketonuria

b) Garrod disease

c) congenital achromatosis

d) galactosemia

e) fructosuria

f) mental deficiency

g) pain in joints, stiffness, ochronosis

h) pain in joints, mental deficiency

 

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