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Retinopathy of prematurity (ROP) is a vasoproliferative disorder affecting preterm infants with low gestational age and birth weight. In general more than 50% of preterm infants weighing less than 1250 g at birth show evidence of ROP and about 10% of the infants develop stage 3 ROP. However, retinal detachment occurs and leads to visual loss in only a few(More)
PURPOSE To determine clinical phenotypes, examine the age dependency of X-linked juvenile retinoschisis (XLRS), and identify mutations in the retinoschisis1 gene (RS1) in 13 Hungarian (Caucasian) families with this disease. METHODS This study included 72 members in 13 families. Complete ophthalmological examinations, including optical coherence tomography(More)
Congenital stationary night blindness (CSNB) is a non-progressive Mendelian condition resulting from a functional defect in rod photoreceptors. A small number of unique missense mutations in the genes encoding various members of the rod phototransduction cascade, e.g. rhodopsin (RHO), cGMP phosphodiesterase beta-subunit (PDE6B), and transducin alpha-subunit(More)
Preterm birth may be associated with hypoxic-ischaemic encephalopathy (HIE) showing a well recognised number of patterns, including neuronal karyorrhexis/eosinophilia mostly at the diencephalon and brain stem and leukomalacia at the periventricular white matter. To investigate whether programmed cell death or apoptosis plays a role in HIE, we examined human(More)
PURPOSE Variation in sensitivity to glucocorticoids observed in healthy population is influenced by genetic polymorphisms of the glucocorticoid receptor gene (NR3C1). N363S, ER22/23EK, and Bcl I have been previously described as glucocorticoid-sensitivity modulating polymorphisms. We investigated whether these variants may contribute to steroid-induced(More)
PURPOSE A retrospective clinical and a genetic study was carried out of severe subepithelial corneal haze occurring after photorefractive keratectomy (PRK). Since this clinical condition resembles the lumican-null mouse phenotype, mutation analysis of lumican and keratocan was carried out to investigate whether germline genetic alterations have an effect on(More)
PURPOSE To present the ocular findings of a Hungarian family with X-linked juvenile retinoschisis (XLRS) and to reveal a novel putative splice mutation leading to serious truncation of retinoschisin (RS1) protein. Our genetic results were compared to a mouse model of XLRS. METHODS Complete ophthalmic examinations were performed on five members (two male(More)
BACKGROUND The principal risk factors for cardiovascular mortality posttransplantation are hyperglycemia, hypertriglyceridemia, obesity, and smoking. METHODS Among 115 patients, we assessed the risk factors for new-onset diabetes (NODM) and dyslipidemia (NODL), and their effects on the function and histopathologic changes in the allografts at 1 year(More)
Applied concomitantly with other methods ultrasonic testing is claimed to furnish reliable results in the diagnosis of renal disease. A total of 177 cases with radiologically confirmed urologic renal disease were tested by means of the ultrasonic method. Of the cases 128, [72.3%] were renal tumours and cysts. The echo-tests involves no risk, can be(More)