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Biomedical subjects

B Cabalska

Publications and source records attributed to B Cabalska.

At least 37 records · Page 2Linked to original sources
PubMed1983

Early detection of inborn errors of metabolism in Poland.

A screening programme for early detection of inborn errors of metabolism in Polish newborn population has been evaluated. Guthrie bacterial inhibition assay for amino-acidopathies, Beutler and Baluda test for galactosemia, meconium test and ion-selective chloride electrode for cystic fibrosis, radioimmunological test for congenital hypothyroidism, and multidirectional urine screening test are described and the results discussed.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

[Progress in the early detection of inborn errors of metabolism].

The aim of present study was to evaluate the effectiveness of screening program for early detection of some metabolic errors in newborn population. The examinations included: early diagnostic of some amino acids and carbohydrates disturbances, cystic fibrosis and congenital hypothyreosis. Guthrie test and multidirectional urine screening test were used for the diagnostics of inborn errors in amino acids metabolism. Guthrie test for phenylalanine proved its high effectiveness and taking into account the relatively high frequency of phenylketonuria in our population this screening has been introduced as obligatory. The evaluation of pilot screening for tyrosinemia, homocystinuria and histidinemia in spite of no objections as to the tests themselves proved low frequency of these disorders in our country, sofar these tests have been abandoned. Multidirectional urine screening carried out in 6-8 weeks old infants allows for follow up control for some aminoacidopathies, and also for the detection of some transport metabolism and other metabolic errors. There is no doubt that screening tests for galactosemia should be carried out because of severe course of the disease and good results of its treatment. Problem to be discussed is the choice of screening procedure and age at which it should be performed. Cystic fibrosis being one of the most common disease in the group of metabolic disorders needs to be screened, because the detection allows for early introduction of complex palliative treatment. The comparative evaluation of three meconium tests for cystic fibrosis revealed dry paper meconium test to be the most useful and following to organize central screening center. Skin chloride system being fast and easy test is too expensive to be introduced as mass screening. Results of pilot screening study for congenital hypothyreosis point out the necessity for the mass diagnostic of this disorders. Choice of the test however is connected with economical aspects of the screening procedure.

Age Factors↗
PubMed1979

[Clinical and biochemical diagnosis of galactosemia among our cases].

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.

Adult↗
PubMed1979

[Neurological status and psychomotor development of children with phenylketonuria treated early].

Low phenylalanine diet treatment in children with phenylketonuria (PKU) started sufficiently early prevents mental retardation. But the question whether the treatment prevents all c n s damage is still open. This problem was evaluated on the basis of longitudinal neurological and psychological studies of 118 PKU children in whom treatment was started before the 6-th week of life. As a comparative group 90 children with untreated or late treated PKU were investigated. A detailed analysis of the results was carried out investigating each case in relation to the precision of dietary restrictions and the duration of treatment. The incidence and type of abnormal findings were compared with the abnormalities found in children with untreated or late treated PKU and with the incidence in the total child population. In 78 children (66,1%) there were no abnormalities in the neurological status and mental development was normal except for some retardation in the visual-motor maturation. In 35 children (29,7%) signs of hyperkinetic syndrome were present in 5 (4,2%) there was both mental retardation and signs of hyperkinetic syndrome. In the comparative group all 90 children had severe neurological abnormalities and mental retardation. The obtained results confirm that the essential effect of the diet on the development of PKU patients is during the first year of life. In order to obtain optimal results however, it is necessary to continue the diet for a sufficiently long period. But in spite of following the prescribed treatment in PKU children it is not always possible to prevent minimal c n s damage.

Child↗
PubMed1978

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.

Amylases↗