[New possibilities in cystine lithiasis therapy: preliminary report].
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Biomedical subjects
Publications and source records attributed to M Słowik.
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UNLABELLED: Serum angiotensin-converting enzyme (ACE) is considered as a marker in many disorders, especially in sarcoidosis. The aim of this study was to assess ACE activity using Haiakari spectrophotometry in patients with non-sarcoidosis uveitis before and after treatment. MATERIAL AND METHODS: 36 patients, including 21 adults and 15 children, were investigated. ACE concentration was increased mostly in patients with recurrent toxoplasmic and toxocaral iridocyclitis and choroiditis. RESULTS: It was demonstrated that concentration of ACE was increased especially in toxocariasis uveitis. After treatment the concentration of ACE was significantly decreased in all patients.
A case of 44-year-old man is presented with no simultaneous bilateral posterior scleritis with amelanotic chorioidal mass initially diagnosed as intraocular tumor. The patient showed the features of nodular posterior scleritis without associated systemic disease. The case presented symptoms of severe eye pain, unilateral proptosis, hyperemia and dilatation of scleral, episcleral and conjunctival vessels. Diagnosis was made on the basis of B-scan ultrasonography. Differential diagnosis excluded melanoma malignum chorioideae, orbital cellulitis, Graves ophthalmopathy, orbital cellulitis, cavernous sinus thrombosis and carotid-cavernous fistula. The patient did not respond well to systemic steroids given in high doses and during slow tapering at the dosage of 30 mg prednisone once per day the symptom of uveal effusion syndrome occurred. After 10 months of steroid therapy the signs of disease like mild hyperemia and tenderness were still present. The adjunction of cyclosporin improved the disease and caused the remission.
The authors present signs and symptoms in Grönblad-Strandberg syndrome and current opinions on therapeutic procedures in choroidal neovascularization where central vision is threatened. The publication includes a case report.
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Uro-Vaxom was used in the treatment of recurrent urinary tract infections in 28 girls. Most of them (27/28) tolerated the drug very well, no side effects were observed. We stopped administration of the Uro-Vaxom in one girl during the first month of treatment because of vomiting. Uro-Vaxom efficiency was, therefore, evaluated in 27 girls. Uro-Vaxom was found to be a valuable drug, supplementing antibiotic therapy in recurrent urinary tract infections caused by E. coli.
Mutations in the genes encoding different parts of phenylalanine hydroxylation system cause persistent hyperphenylalaninaemia. The most frequent form of hyperphenylalaninaemia is caused by mutations in the PAH gene. The most common variant result from defect of tetrahydrobiopterin synthase. Mutations in the PAH and PTS genes in the Polish population are presented. Genotype--phenotype correlations are discussed.
Among 425 children with urolithiasis treated in the Paediatric Clinical Department of the National Research Institute of Mother and Child in Warsaw between 1976-1997, 50 of them i.e. 11.7% (26 boys and 24 girls) had recurrent urolithiasis. Patients' age was from 10 months to 16 years and 5 months. The number of recurrences of uroliothiasis before treatment in the Institute was from 1 to 8. Most of the children had numerous surgical operations, some of them excreted stones spontaneously. The etiology was determined in all cases. A metabolic cause of urolithiasis was found in 34 cases, i.e. 68% of the analysed group. They were as follows: idiopathic hypercalcuria--24 cases, uric acid urolithiasis--5 cases, cystynuria--4 cases, and incomplete distal renal tubular acidosis--1 case. Other reasons for urolithiasis were: infection--7 cases, idiopathic urolithiasis--8 cases, ren spongiosum--1 case. Prevention of recurrences depending on the etiology was successful. In 45 cases no recurrences were found. Recurrent urolithiasis was observed in 4 cases of cystynuria and in one case of incomplete tubular acidosis. The observation period was from 3-19 years.
A case of non-typical phenylketonuria produced by the inactivity of dihydrobiopterin synthetases is presented. Dihydrobiopterin synthetases are enzymes converting neopterin to biopterin. Presented case indicates a possibility of erroneous classification of hyperphenylalaninemia due to BH4 deficit, if the complete differential diagnosis is not performed. A complete differential diagnosis is necessary in all cases of hyperphenylalaninemia distinguished in neonates during screening tests.