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Biomedical subjects

V Hitrec

Publications and source records attributed to V Hitrec.

9 recordsLinked to original sources
PubMed1979

Partial trisomy 22.

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Chromosome Aberrations↗
PubMed1976

Functional and tonometrical investigation of bladder and urethra in patients with stress incontinence.

During 1974, 80 women with symptoms of relative stress incontinence underwent cystotonometric, sphincterometric and urethrometric examinations. The average basal bladder pressure, sphincter resistance, urethral length with the patient in the lying position and functional urethral length (difference between urethral length in the lying and the upright positions) were measured. We tried to separate objectively stress from urge incontinence (about one-fourth of the patients). After statistical analyses of the data we concluded that there is neither correlation between sphincter resistance and urethral length, nor between sphincter resistance and functional length of the urethra but there is a correlation between sphincter resistance and basal bladder pressure. The functional length is the best method to separate patients with stress incontinence from thoses with urge incontinence, while sphincter resistance is of less importance. The functional length is also the best indicator of the seriousness of incontinence. The objective sign of a successful operation is the extension of the urethral length and the fixation of the functional length to 0 mm. In such cases sphincter resistance is slightly increased and inversely related to the size of the correction of functional urethral length.

Female↗
PubMedDate not supplied

[The fragile X (Martin-Bell) syndrome].

Fra (X) or Martin-Bell syndrome is the most common X-linked mental retardation with an incidence of 1/1000-2000 newborns. Chromatid break, double chromatid break or total loss of distal part of X chromosome (which occurs most often inside the C positive band q 27.3) is demonstrated in most male hemizygotes as mental retardation and specific phenotypic features. Fra (X) syndrome is proved in the cultured lymphocytes or fibroblasts with special cytogenetic methods. The prenatal diagnosis is possible by examining of amniotic fluid or the lymphocytes from the umbilical cord. We report two families with fra (X) syndrome. In the first one, 6 year- and 9-month-old boy with mental retardation and characteristic phenotypic features has been recognized as the carrier of fra (X) syndrome and after that his 4-year-old brother with similar symptoms. In the second family, there is a severe mentally retarded 3-year-old boy with fra (X) syndrome who besides typical phenotipic changes also exhibits symptoms of autism. The percentage of the cells with fra (X) chromosome in our patients (30%, 28%, 18%) is not correlated with the degree of their mental retardation. The mothers of our patients are the heterozygous carriers of the syndrome (3% and 1.5% fra (X) chromosome).

Child↗
PubMedDate not supplied

[Chronic autoimmune thyroiditis in patients with Turner's syndrome].

Studies concerning adult female patients with Turner's syndrome demonstrated that the impairment of the thyroid function is more often found in these patients than in the general female population. This is primarily related to a greater frequency of autoimmune thyroid diseases. Thyroid function was studied in a group of 23 female patients with Turner's syndrome, aged 7 to 24 years. Mean age was 15.6 years. Twelve patients had the karyotype 45X, three had mosaics 45X/46XX, one had the karyotype 45X/47XXX, while 7 had different structural X chromosome anomalies. They were all clinically euthyroid, except one which had plasma thyroxine (T4) values somewhat lower, and three which had plasma thyroid-stimulating hormone (TSH) concentrations somewhat higher than normal levels which could correspond to the so-called "subclinical" or "compensated" hypothyroidism. Elevated thyroid autoantibodies (TAA) were found in nine patients, whereas only two of these patients had goiter, simultaneously. It may perhaps be concluded that in female patients with Turner's syndrome, the atrophic form of autoimmune thyroiditis is more frequent than that associated with goiter (Hashimoto's thyroiditis), the latter being more prevalent in younger age groups in the general population. In view to the possible progression to hypothyreosis and the need for substitution therapy, the necessity of regular thyroid function follow-up especially in patients with positive TAA titers is emphasized. This is particularly important in female patients of younger age who are still in their growth and development period and in whom low thyroid hormone concentrations may lead to even greater growth retardation which is already compromised with the principal disease.

Adolescent↗
PubMedDate not supplied

[The r(18) syndrome].

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Abnormalities, Multiple↗