Development of a measurement station and a procedure for measuring differences between standard and proportional stop lamps

The first part of this article describes a novel proportional stop lamp under development at our department. The stop lamp is capable of signalling braking intensity. The second half of the article details a measurement process and an instrument measuring the difference in the effects of standard stop lamps and the proportional stop lamp on the driver

Integrated human-machine-environment system model of proportional stop lamps in braking situations

This paper introduces a new system model for braking situations. Its name is integrated human-machine-environment system model. This system model is used to model braking simulations. It shows the differences between the effect of standard brake lamps and proportional brake lamps or displays. This model is applicable for on board simulation and it is usable in transportation and traffic psychology

Gyermekgyógyászati örökletes megbetegedéseket okozó mutációk kimutatásának új lehetőségei a humán genom térkép felhasználásával = Identification of Mutations in Hereditary Disorders of Paediatrics Using the Human Genome database

A klinikai genetikai tanácsadás szempontjából az egyik legnehezebb problémát az autoszomalis és az X kromoszómához kötött recesszív öröklődésmenetű betegségek jelentik. A recesszív öröklődésű monogénes betegségeket okozó mutációk heterozigóta formában sem mindig "ártalmatlanok", fokozott betegséghajlamot jelenthet, és / vagy olyan jelleget, ami meghaladja a populációs variancia normális határait. Ez egyúttal jelentősen kibővíti azok körét, akik egy gén hibája következtében betegségi tünetet mutatnak. Jelen kutatási munkában, Magyarországon elsőként vezettük be a cisztás fibrózis (CF, CFTR gén), a congenitalis adrenalis hyperplasia (CAH, CYP21 gén) és a Fabry betegség (alfa-galaktozidáz gén) vizsgálatát. Új lehetőséget jelent, hogy a nagyszámú beteg vizsgálattal, már lehetőség nyílt a genotípus és fenotípus összehasonlító tudományos elemzésére. Jelen kutatási munka keretében Magyarországon elsőként elkészítettük az Országos Cisztás Fibrózisos Regisztert. A Fabry betegségben, eddig még le nem írt öt új mutációt azonosítottunk: L16P, D165H, D266Y, I289S és 10237del2, amelyek jellegzetes klinikai tünetekkel társulnak. Felhasználva a humán genom térkép által azonosított és nyilvános adatbázisokban hozzáférhető információkat, a glükokortikoid-receptor (GR) gén, és a veleszületett süketség (GJB2 gén) molekuláris genetikai vizsgálatát végeztük el (mutáció analízis). | Recessively inherited syndromes are one of the most difficult problems encountered during clinical-genetic counseling sessions. Heterozygote carriers of recessively inherited disorders may have an increased susceptible for illness. Our research group started first in Hungary, the molecular genetic analysis of patients with cystic fibrosis (CF, CFTR gene), congenital adrenal hyperplasia (CAH, CYP21 gene) and Fabry disease (GLA gene). There was a new opportunity for us using a large number of patients to perform the analysis of genotype - phenotype correlations in the above mentioned disorders. OTKA Research Fund allowed us to set up the Hungarian Cystic Fibrosis Registry, first in Hungary. In Fabry disease, we identified 5 different, novel mutant alleles: L16P, D165H, D266Y and I289S and 10237del2. We performed molecular genetic analysis on glucocorticoid receptor (GR) gene and one gene of nonsyndromic sensorineural hearing loss (GJB2) using open access databases, developed by the Human Genome Project

A hagyományos citogenetika és a FISH egymást jól kiegészítő vizsgálatok gyermekkori akut limfoid leukémiában

Primary genetic abnormalities of leukemia cells have important prognostic significance in childhood acute leukemia. In the last two years 30 newly diagnosed or recurrent childhood ALL bone marrow samples were analyzed for chromosomal abnormalities with conventional G-banding and interphase-fluorescence in situ hybridization (I-FISH) using probes to detect BCR/ABL fusions, cryptic TEL/AML1 and MLL rearrangements and p16(9p21) tumor suppressor gene deletions. G-banded karyotype analysis found clonal chromosomal aberrations in 50% of cases. With the use of complementary I-FISH techniques, ALL-specific structural and numerical changes could be identified in 70% of the patients. Nine cases (30%) had subtle chromosomal aberrations with prognostic importance that had not been detected in G-banded analysis. Conventional G-banding yielded additional information (rare and complex structural aberrations) in 19% of patients. The most common aberration (30%) was AML1 copy number increase present in G-banded hyperdiploid karyotype as a chromosome 21 tetrasomy in the majority of cases; one case displayed 5-6 copies and in another case amplification of AML1 gene on der(21) was combined with TEL/AML1 fusion of the homologue AML1 gene and deletion of the remaining TEL allele. High hiperdiploidy was detected in 6 cases, in one patient with normal G-banding karyotype. TEL/AML1 fusion signals were identified in four patients. Deletion of p16 locus was found in eight cases (23%), of which only two had cytogenetically visible rearrangements. G-banding in combination with I-FISH has produced major improvements in the sensitivity and accuracy of cytogenetic analysis of ALL patients and this method helps to achieve a more precise identification of different risk categories in order to choose the optimal treatment

In vivo measurements with robust silicon-based multielectrode arrays with extreme shaft lengths

In this paper, manufacturing and in vivo testing of extreme-long Si-based neural microelectrode arrays are presented. Probes with different shaft lengths (15–70 mm) are formed by deep reactive ion etching and have been equipped with platinum electrodes of various configurations. In vivo measurements on rats indicate good mechanical stability, robust implantation, and targeting capability. High-quality signals have been recorded from different locations of the cerebrum of the rodents. The accompanied tissue damage is characterized by histology