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I Lenartowska

Publications and source records attributed to I Lenartowska.

At least 19 recordsLinked to original sources

[Chronicled report on the period from May 1 to September 27, 1989. Discussion of risk factors].

The 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. So as to control the present state of general health and thyroid state in the study group a questionnaire with a letter to parents explaining the aim of the inquiry was sent to the parents (see addenda). About 14000 letters were send from which around 12000 responses were returned to the Institute. From informations received this way we draw the preliminary conclusion that no significant damage in health of these children or their siblings can be found. About 20% of the mothers admitted taking the Lugol solution in a last day of pregnancy. However it should be taken into account that these data were collected 2 years after the accident and are not fully reliable. In the period 1989-1990 a group of 1912 children (938 boys and 974 girls) was called to the Department of Endocrinology of the Institute and inspected. The age was from 2.9 to 4.2 years. All children had screening TSH-spot test result negative (below 30 microIU/ml). General health state The general health state of the children inspected was good. Only 33 of them (1.7%) had various congenital malformations what is not different from general population of polish children. Mental development was in 1897 cases normal, in 15 cases IQ was decreased and the score varied from 75 to 80 according the Brunet-Lezine scale. Average physical development was normal. Body height evaluated in standard deviation score (SDS) was as follows: SDS = 0.0 in 359; SDS = +0.9 +/- 0.6 in 906 and SDS = -0.5 +/- 0.3 in 647 cases. Thyroid state At 1904 inspected and analytically estimated children the thyroid function was normal. Only in 8 cases (0.8%) a goiter was found with euthyroid state. Analytical data were as follows: total T4 serum level = 111.8 + 43.1 nmol/l (50.4-171.9), ref. value: 50.1-170.0 nmol/l; total T3 serum level = 2.5 +/- 0.4 nmol/l (ref. value 1.9-3.6); TSH serum level 4.4 +/- 2.6 uIU/ml. Trace amounts of antithyroid membrane antibodies were found at 12 children (0.63%) of the group in serum diluted 1:250.(ABSTRACT TRUNCATED AT 400 WORDS)

Air Pollutants, Radioactive↗

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↗

[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↗

[Reactivity of peripheral blood lymphocytes in children with pituitary dwarfism treated with human growth hormone (author's transl)].

The 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. The control group was made up of 16 healthy children, 8 to 15 years old who had never been administered HGH. The patients were divided into groups according to the circumstance whether it was the first or the subsequent contact with HGH, and according to the periods at which the blood samples were collected during after therapy. It was found that the capability of lymphocytes to blastic transformation after stimulation with a specific stimulus (HGH) in patients with pituitary dwarfism in comparison with the reaction of healthy children is reduced (Fig. 2). The ability of the transformation of lymphocytes in this case shows selectivity towards the stimulus because the inhibiting of the response was noted only after the stimulation with HGH, but not after stimulation with PHA. During the treatment with HGH, allergization of the body appears; this is evidenced by the increase in the percentage of blastic cells in autotransformation (Fig. 1).

Adolescent↗

[Endocrinology].

Explore the source record for details and available documents.

Child↗

[Evaluation of the usefulness for neonatal mass screening in light of 35 years personal experience].

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. Other Guthrie tests (GBIA) were applied in homocystinuria, tyrosinemia, histidinemia and leucinosis (Maple Syrup Urine Disease-MSUD). In the middle of the 60. the Beutler and Baluda test was introduced for galactosaemia, as well as the Efron urine test in infant screening for different inborn errors of metabolism. In the middle of the 70., neonatal mass-screening for cystic fibrosis (CF, mucoviscidosis) was started. Meconium tests and the sweat test with ion selective chloride electrode were used. Apart from inborn errors of metabolism, we also introduced a screening programme for neuroblastoma in which vaniline mandelic acid (VMA) in urine was estimated and for congenital hypothyroidism were TSH level was assessed. The results of screening are shown in the tables and in the figures. In our opinion the best clinical results are obtained with screening for congenital hypothyroidism and for PKU, since very early detection and treatment in these diseases prevents severe mental retardation. We therefore consider that both these screening programmes should be treated as obligatory examinations in all neonates. Taking into consideration the fact that there are different types of hyperhenylalaninemias, the principles of differential diagnosis are discussed. Molecular genetic investigations, carried out in the NRIMC Department of Genetics proved to be a very important procedure in the verification of diagnosis of different mutations. The authors also discuss the problem of dietary treatment duration in PKU. In our opinion the hypophenyloalanine diet regimen in girls, should not be discontinued during adolescence, since there is the problem of maternal PKU and the possibility of foetal damage. The results of our own investigations of maternal PKU are discussed. The significance of mass-screening for galactosemia is still under discussion. In our opinion, mass-screening for galactosemia is not useful and we have discontinued it. Selective screening has been started combined with molecular genetic studies in high risk families. In the future, we plan to prepare guidelines on the principles of diagnosis and treatment of galactosemia in children and women in the reproductive age. Mass-screening for cystic fibrosis is also still under discussion. The results of the early screening programmes were not satisfactory and the tests were discontinued. In 1998, after reorganisation of the whole system, CF screening, using tripsin-radioimmune assays, was started again. The new screening programme is combined with molecular genetic investigation of different mutations. It is still too early to assess the importance and success of this CF mass-screening programme. We decided to discontinue the screening for homocystinuria, histidinemia, tyrosinemia, leucinosis and for neuroblastoma, since these programmes did not comply with criteria of mass-screening. In 1997, major reorganisation of screening programmes for inborn errors of metabolism, at NRIMC, was undertaken. The Guthrie test for PKU was changed to a quantitative colorimetric method. The immuno-luminometric method is used for TSH estimation. The whole system is based on complete computer control of all the steps of screening, from blood sampling on filter paper until the final diagnosis. The advantages of this modern system of organisation of the screening programme are discussed.

Decision Trees↗