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Biomedical subjects

A Kolský

Publications and source records attributed to A Kolský.

7 recordsLinked to original sources
PubMed1999

[New diagnostic possibilities in Alport's syndrome].

An overview of immunohistological and molecular genetic methods for diagnosis of Alport syndrome (AS) is given with practical experience from groups of authors' observations. Immunofluorescent investigation using antibodies against alfa chains of collagen IV was performed on cryostat sections from 29 punction nephrobiopsies and 9 skin excisions taken for support of differential diagnosis of AS particularly against the thin membranes glomerulopathy. Alfa chains deviations in other renal diseases were followed in another 14 cases. Molecular genetical investigation of AS by an indirect DNA diagnostics was performed in 35 families with presumed AS and in 27 patients with probable mutation a mutation screening of COL4AS gene by a direct method SSCP was made. The mutation was proved in 10 cases. Because of genotypical and phenotypical variability of AS the diagnostic gain only increases when all the accessible methods are combined.

Adolescent↗
PubMed1995

[Munchausen syndrome].

The authors present their own observation of five child patients with Münchhausen's syndrome and Münchausen's syndrome by proxy resp. Both these units are included in the wider framework of the syndrome of the battered child. Four boys and one girl are involved, aged 12-16 years. In all instances the reason for admission to hospital was macroscopic haematuria. The children were prior to hospitalization subjected to a series of various invasive examinations, incl. repeated examinations under anaesthesia to elucodate the cause of macroscopic haematuria. The uncommon course of the "disease" and results of the examinations led in four of the five children to suspicion of Münchhausen's syndrome. Based on this suspicion after immobilization of the patients associated with prevention of manipulation with the hands, macroscopic haematuria disappeared as well as haematuria in general. In the fifth patient Münchhausen's syndrome by proxy was involved. The patient was referred because of repeated attacks of macroscopic haematuria a renal biopsy. The authors analyze in more details the individual case-histories and in the conclusion to they raise their objections to the opinion that these two syndromes are extremely rare.

Adult↗
PubMed1991

[Carotenemia].

The authors demonstrate two infants with a yellow skin coloration which developed as a result of excessive dietary carotenoid intake. The yellow coloration, contrary to jaundice, did not affect the sclerae. Elevated blood carotenoid levels were found and a temporary increase of aminotransferases. In both infants lower IgA levels were recorded. After modification of the diet the yellow coloration disappeared and gradually the aminotransferases reached normal levels.

Carotenoids↗
PubMed1990

[Acute interstitial nephritis with uveitis in children and adolescents].

Acute non-suppurative tubulointerstitial nephritis was recorded within a five-month interval in 1988 in one girl and two boys aged 15, 16 and 12 years. The common feature was non-selective proteinuria, slight glycosuria, anaemia, a sedimentation rate of more than 100 mm/2 hrs hyperatotaemia not calling for dialyzation treatment (268, 354 and 266 mumol/l plasma creatinine resp.), a markedly impaired concentrating capacity (540, 593 and 520 mOsm/kg urine resp.). In all patients circulating serum immunocomplexes were elevated (PEG-IKEM). One patient developed acute uveitis at the onset of the disease, the remainder after 5 and 6 months resp. and in all there was a tendency of a protracted course and relapses resp. In two patients uveitis was diagnosed by an aimed examination by means of a slit lamp at a time when there were not yet any clear signs of affection of the eyes. All patients were subjected to percutaneous renal biopsy which revealed an interstitium with uneven lymphoplasmacytic cellulization with infrequent eosinophil and neutrophil polynuclear cells. Electron microscopy revealed sections of varying size with fibrotization of the tubular basal membrane; the glomerular changes were not typical. All patients had prednisone treatment and their renal functions were gradually restored. Despite extensive serological examinations, the aetiology was not cleared, however before the onset of the disease the patients had penicillin, cotrimoxazol and erythromycin resp.

Acute Disease↗