The results and the significance of neonatal mass-screening programmes for inborn errors of metabolism, conducted by the National Research Institute of Mother and Child (NRIMC), are discussed. As the first in Poland, in 1964, mass-screening for phenylketonuria (PKU) was introduced. The BIA-Guthrie test was used.
View Article and Find Full Text PDFThe Institute of Mother and Child was invited in 1988 by professor J. Nauman to his Chernobyl program, so as to inspect children born after Chernobyl accident, particularly these born in first days following the accident dated 26 april 1986. The central part of Poland is covered with screening for congenital PKU and hypothyroidism therefore all children had estimated TSH-spot levels between 3rd and 5th day of life.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFThe 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.
View Article and Find Full Text PDFThe study has aimed at investigating the blastic transformation of peripheral blood lymphocytes in patients with pituitary dwarfism before, during and after the treatment with human growth hormone. The reactivity of lymphocytes in vitro was studied in cultures stimulated with phytohemagglutinin-M of the Difco Company (PHA), in cultures stimulated with human growth hormone (HGH), and in cultures non-stimulated in vitro. The investigations were carried out in 34 patients with pituitary dwarfism at the age of 7 to 19 years.
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