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Biomedical subjects

V Bzdúch

Publications and source records attributed to V Bzdúch.

At least 37 records · Page 2Linked to original sources
PubMed1993

[Electrophoresis of alkaline phosphatase isoenzymes--the key to rapid diagnosis in transient hyperphosphatemia].

Using the method of electrophoretic separation of isoenzymes of serum alkaline phosphatase the authors confirmed the diagnosis of transient hyperphosphatasaemia in nine children examined in the out-patient department or hospitalized with various diagnoses in the Childrens Hospital. The typical isoenzyme picture was formed by an atypical anodal fraction and the probable bone isoenzyme corresponding to the cathodal fraction. The examination method used made it possible to differentiate rapidly and relatively simply transient hyperphosphatasaemia from other diseases associated with a high serum alkaline phosphatase activity.

Adolescent↗
PubMed1992

[Familial supravalvular aortic stenosis].

By means of two dimensional echocardiography supravalvular aortic stenosis was diagnosed in two siblings and their cousin. Autosomal dominant transmission with incomplete penetrance or even non-penetrance is assumed to be involved. Somatic stigmatization, typical for Williams' syndrome, failed to be present in the affected children. The reported family provides further evidence that familial supravalvular aortic stenosis and Williams' syndrome are two distinct clinical entities. (Tab. 1, Fig. 3, Ref. 23.)

Aortic Valve Stenosis↗
PubMed1992

[Surgical treatment of supravalvular aortic stenosis].

Over the last 22 years, two children were operated on for supraventricular aortic stenosis at the Institute of Cardiovascular Diseases in Bratislava. Both cases presented a localized form of supravalvular aortic stenosis. Simple elipsoid flaps were used without extended aortoplasty. One of the two children, a 12-year-old boy with Williams' syndrome died of endocarditis in the early postoperative period. In the 10-year-old girl with familial supravalvular aortic stenosis the operation was successful, although the defect was combined with supravalvular muscular obstruction. The authors emphasize the possibility of choice between two surgical procedures according to the localization of the stenosis with respect to the valvular apparatus.

Aortic Valve Stenosis↗
PubMed1992

[Transitory hyperphosphatasemia in childhood].

Transient hyperphosphatasaemia was detected in 11 children hospitalized at the First and Second Paediatric Clinic of the Paediatric Faculty Hospital in Bratislava in 1985-1990. The authors analyzed retrospectively 6 children from this group where it was possible to evaluate accurately the trend of serum alkaline phosphatase. In all children the high alkaline phosphatase activity was detected incidentally during the initial examination. The reason for hospitalization were in four instances respiratory infections, in one instance coeliac disease and in one instance infectious mononucleosis with infection of the urinary pathways. The maximum increase of serum alkaline phosphatase was 5-15 fold higher than the upper borderline of the reference range for the given age group. The activity declined to normal spontaneously independently on the course of the basic disease and treatment, always in the course of 3-12 weeks. The isoenzyme pattern of alkaline phosphatase with a high ratio of the thermolabile isoenzyme was typical. Finally the authors emphasize that recognition of this obscure condition which does not endanger life can spare the children many unnecessary and expensive examinations.

Alkaline Phosphatase↗
PubMed1991

[Ocular changes in the Williams-Beuren syndrome].

One of the signs of Williams-Beuren syndrome are typical opthalmological findings. In a group of 13 patients with this disease, in 7 esotropia was detected, in 8 a star-shaped iris and in 9 hyperopia. Three children had yellowish opalescent spots in the stroma of the cornea and in one patient cataracta punctata was found. A tortuous course of the retinal vessels was found in three patients, incl. two with elevated arterial pressure. Detection of these ophthalmological changes can contribute to the correct diagnosis of Williams-Beuren's syndrome.

Abnormalities, Multiple↗
PubMed1990

[How can the Williams-Beuren syndrome be recognized?].

In a girl with Williams-Beuren's syndrome psychological examination revealed mental retardation with a special mental profile, angiography revealed peripheral pulmonary stenoses, echocardiography a slight stenosis in the supravalvular aortal area and anthropometry typical facial signs. Indirect signs of hypercalcaemia were clinical signs of poor progress during infancy. The authors emphasize that accurate analysis of basic clinical signs and the natural development of the disease are the key to its diagnosis.

Aortic Valve Stenosis↗
PubMed1989

[Diagnosis of supravalvular aortic stenosis using 2-dimensional echocardiography].

In 13 children supravalvular aortic stenosis was diagnosed by two-dimensional echocardiography on the basis of a diminished inner diameter of the aorta in the supravalvular region "d2" compared with the inner diameter of the aortic annulus "d1". The differences in the values of "d2" and "d1" were only on the border of statistical significance. The difference in the d2/d1 ratio between the group of patients and healthy controls was statistically significant (p less than 0.001). Two-dimensional echocardiography is a very sensitive method for diagnosing supravalvular aortic stenosis. This sensitivity has been confirmed also by detecting the diminished inner diameter of the aorta in the supravalvular region in children with Williams-Beuren syndrome without clinical signs of a heart defect.

Aortic Valve Stenosis↗
PubMed1989

[Myocarditis in childhood].

In a group of 82 children followed up for prolonged periods the authors draw attention to some problems of virus myocarditis. They focused attention on the diagnosis of Coxsackie myocarditis for which they elaborated a scoring system. Based on this system they separated the prognostically most adverse group where cardiac decompensation was the dominant sign from the very beginning. They confirmed the theoretical assumption that in some children virus myocarditis develops into cardiomyopathy. This was proved in six children by histological examination and in 19 children by means of echocardiography.

Child↗
PubMed1989

[Chromosome aberrations in children with the Williams-Beuren syndrome].

Karyotypic examinations were carried out in 10 children suffering from Williams-Beuren's syndrome. Chromosomal aberrations were established in two of the children. In one case the mosaic pattern of Klinefelter's syndrome was recorded, evidently presenting an instance of coincidence. In the other case deletion of the long arm of chromosome 6 (q22.2q23) was demonstrated, which according to the authors' hypothesis may represent an alternative localization of the phenotypic traits of Williams-Beuren's syndrome or of its assumed underlying defect, namely derangement of the regulation of calcium metabolism. The value of cytogenetic examination of children with Williams-Beuren's syndrome in elucidating the so far obscure pathogenesis of this disease is being emphasized.

Abnormalities, Multiple↗