[Lowe's syndrome in a 6-month-old infant].
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Biomedical subjects
Publications and source records attributed to J Bodalski.
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OBJECTIVE: The evaluation of the importance of the genetically determined acetylation defect for the development of adverse reactions to co-trimoxazole in children. METHODS: The study comprised 48 children aged 3 months to 3 years, who were being treated for interstitial pneumonia with co-trimoxazole. During the treatment, daily clinical examinations and biochemical tests to monitor the functions in various organs enabled us to detect adverse reactions to the drug. The therapy was continued or discontinued according to the results of these examinations. In all children we identified the genotype coding for N-acetyltransferase (NAT2). For this purpose, DNA was isolated from peripheral blood. Polymerase chain reaction (PCR) was then carried out, followed by restriction mapping with the KpnI, Ddel, TaqI, and BamHI endonucleases in order to identify the four mutations at the NAT2 gene locus: 481C-->T; 803A-->G; 590G-->A and 857G-->A, respectively. RESULTS: In 29 children (60%) various adverse effects occurred and in 19 children (40%) no adverse reactions to treatment occurred. We found statistically significant differences in the occurrence of the identified wt alleles, and alleles with 590A and 857A mutations between the two groups of children studied. In the group with adverse effects, 87% of children had genotype coding for slow acetylation and only 13% had genotypes containing the wt allele. In the group without adverse effects the results were reversed: 89% had genotypes with the wt allele, and only 2 children (10%) were found to have the homozygotic mutation (slow acetylation). CONCLUSION: The results show that the occurrence of adverse effects from co-trimoxazole is closely connected with the genotype coding for slow acetylation.
Congestive heart failure is one the most severe late complications of cancer therapy with anthracyclines. The function of the heart muscle was evaluated in 50 children (30 boys and 20 girls), aged from 5 years 6 months to 20 years 7 months, treated in the past for lymphoblastic or nonlymphoblastic acute leukemia. The total dose of the administrated anthracyclines was 120-550 mg/m2. The circulatory system was evaluated on the basis of history, physical examination, ECG, exercise test and echocardiography. Impaired contractility of the heart muscle was found in 32% of cases. The degree of impairment was related to the total dose of anthracyclines and to the period from discontinuation of therapy. Heart muscle function disorders were present also in children, in whom the cumulative dose of anthracycline antibiotics did not exceed 400 mg/m2. In the majority of patients the evidence of heart damage was subclinical.
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Medical care of patients with hemophilia A and B involves regular ambulatory check-ups and contemporary replacement therapy. The Institute of Pediatrics in Lódź--as other medical centres in several countries--prophylactically treats some hemophilic patients, usually once per 7-10 days, with infusions of absent coagulation factor. Such treatment was carried out in 10 boys with severe hemophilia A and B with marked clinical symptoms. An analysis of health prior to and during prophylactic therapy was carried out. Such an analysis has shown that such a treatment is beneficial due to the shortening of hospitalization, change in the character of hemorrhage and possibility of rehabilitation free from the risk of complications.