Oľga Nyitrayová

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Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-linked syndrome characterized by profound(More)
Authors measured the thickness of the basement membranes of the proximal and distal tubuli in the renal cortex in 20 patients with verified diabetes mellitus. The test group consisted of 20 patients with small abnormalities of glomeruli (or in the range of variable norm), of the same sex and comparable age. Measurements were performed in locations without(More)
The authors examined consecutive renal biopsies from 43 patients with minor glomerular abnormalities and from 35 patients with chronic tubulointerstitial nephritis (in the least affected glomeruli). The findings were evaluated according to WHO criteria of minor abnormalities. They found that significantly more frequently lipid drops were found in minor(More)
On the basis of 506 renal biopsies performed within a six-year period (237 of which were evaluated electron-microscopically) the authors discovered that in 11 cases the diagnosis based on electron microscopic examination had to be corrected or supplemented by the diagnostic statement of membranous glomerulonephritis. These cases included 1 boy (HBsAg(More)
This case report describes juxtaglomerular cell tumor—a rare renin-producing tumor of the kidney, complicating pregnancy. A previously healthy 24-year-old primigravid woman developed hypertension in the 20th week of pregnancy, leading to a miscarriage in the 28th week. However, hypertension continued after the miscarriage. A more complete examination(More)
Glomerulopathies with fibrillary deposits form a heterogeneous group of renal diseases that can be identified only by means of electron microscopy. A case of a rare type of such a nephropathy, the collagenofibrotic glomerulopathy with focus on differential diagnostics is presented and current knowledge relating to this renal disease is reviewed.
Epidemic-like occurrence of Creutzfeldt-Jakob disease was observed in 1987 in Slovakia (Orava). Search for the cause of CID focus indicated a concidence of genetic and environmental risks in clustering patients. Since Spongiform Encephalopathies might be transmitted orally, (Bovine Spongiform Encephalopathy), the possibility of zoonotic source of CJD cases(More)
Barts syndrome, in literature also known under the name CLAS (Congenital Localised Absence of Skin), first described by Bart in 1966 as congenital localized absence of skin, epidermolysis bullosa congenita and nail abnormalities. The authors present a macroscopic and histological findings of a newborn with Barts syndrome, with epidermolysis bullosa(More)