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

Combating Climate Change through Smart Innovations - Examination of smart city concept in light of sustainability [védés előtt]

While the Earth’s resources and capability are at its limits, while large part of the society is suffering from hardship, the other part is responsible for overconsumption, enormous waste generation. Pollution combined with self-centred human attitude led to the most crucial situation in our century of crises, Climate Change. It is currently one of the most urgent global problems, which are interconnected, complex and it has environmental, economic, social, and technological perspectives. While cities represent most of the population, the biggest greenhouse gas (GHGs) emitter, they use arable land for urban purposes, and they are the centre of services and production. Accordingly, cities were seen as excellent testing-grounds to put smart solutions in a new prospective and examine whether they could be or has been adapted into sustainable climate change combat by increasing the efficiency of mitigation and adaptation processes. For that reason, it will be investigated whether the focus of smart (city) solutions is either primarily environmental (smart-sustainable), or the focus is economic efficiency, but its use is more complex, which enhance sustainability. Based on this aim, the dissertation uses inductive approach, which is applied by using qualitative, explorative methodology such as semi-structured interviews (N=17) with content analysis to define the city level efficiency of the solutions, the driven factors within the decisions, and non-probability sampling methods during the questionary (N=550) to specify smart ability to increase climate awareness at the level of individuals. The research findings confirmed that, however the economic efficiency still dominate the development decisions, the environmental aspect is increasingly important mostly in the fields of mobility, energy usage and heating through the more complex, sustainable, resilient applied approaches in the implementation processes. In addition, there is a shrinking knowledge gap between the ‘investors’ (final users) and the providers of smart solutions, and the relevance of the sensitization and education of the population has become more important. Finally, through the survey, interviews and research, existing smart solutions have been collected within the six sectors of smart city to contribute to the educational purposes

A Los Angeles és Duarte galaktóz-1-foszfát-uridil-transzferáz-variánsok allélgyakorisága a magyar populációban

Classical galactosaemia is an autosomal recessively inherited disorder caused by deficient activity of the enzyme galactose-1-phosphate uridyltransferase (GALT), which can be detected by newborn screening. The p.N314D mutation defines two variant forms of the GALT enzyme, the Los Angeles and Duarte, depending on the presence of additional base changes. Aim: The aim of our study was to analyze a healthy Hungarian population for the frequencies of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles. Methods: DNA samples from 100 subjects were analyzed by polymerase chain reaction, followed by digestion with restriction endonucleases. Results: The frequencies of the p.N314D, the Los Angeles and the Duarte variants were 11.5%, 2.5% and 9%, respectively. Conclusions: The allele frequencies of the Los Angeles and Duarte variant alleles in the Hungarian population correlate well with the allele frequencies in other healthy Caucasian populations

Állati eredetű élelmiszerek mikrobiológiai biztonsága Magyarországon

Az állategészségügyi és élelmiszerellenårzå szolgálat évtizedek óta vizsgálja az élelmiszerek – fåként az állati eredeté élelmiszerek – mikrobiológiai szennyezettségét. Az élelmiszerek által közvetített zoonotikus kórokozók teljes élelmiszerláncot átfogó és a védekezés alapját képezå adatgyéjtési rendszerének jogszabályi hátterét a 99/2003/EK irányelv képezi. 2006-tól az adatgyéjtés rendszerében hangsúlyosabb szerepet kapott az elåre tervezett, a minták véletlenszeré (tehát nem hibaorientált) kiválasztásán alapuló monitoring mintavétel, ami a mikrobiológiai élelmiszerbiztonsági helyzet, a fogyasztók mikrobiológiai expozíciójának reprezentatív felmérését célozza. A dolgozat tárgya a Salmonella spp., a Listeria monocytogenes, a verotoxin-termelå E. coli valamint a termotoleráns Campylobacter fajok elåfordulására vonatkozó vizsgálatok eredményeinek bemutatása. A Salmonella spp. elåfordulási gyakoriságára vonatkozó adatok a legfontosabb élelmiszer termékcsoportok mellett húshibrid, valamint árutojás-termelå baromfiállományok esetében is bemutatásra kerülnek. Jelentås különbség tapasztalható a Salmonella szerotípusok elåfordulásában a különbözå állatállományok, élelmiszer-termékcsoportok között. Az árutojás-termelå állományok, a tojástermékek esetében a S. Enteritidis a leggyakrabban izolált szerotípus, míg húshibrid állományokban és baromfihúsban szinte kizárólag a S. Infantis fordul elő. A Listeria monocytogenes sporadikusan számos azonnali fogyasztásra kész élelmiszercsoportban elåfordul, azonban országosan alig néhány pozitív minta esetében volt 100 sejt/grammot meghaladó, a fogyasztó egészségét súlyosan veszélyeztetå mértéké fertåzöttség. A nyers baromfihús Campylobacter szennyezettsége jelentås, a pozitív minták aránya meghaladja az 50%-ot. A szarvasmarha és a sertés húsának, valamint a nyers tejnek a fertåzöttsége alacsonynak tekinthetå (1-5%). The Hungarian Veterinary and Food Control Service has been responsible for the testing and data collection on the microbiological contamination of different foodstuffs (mainly food of animal origin) for decades. The legal background of monitoring on zoonotic microoorganisms transmissible by food at the relevant parts of food chain is provided by Directive 99/2003/EC. There is a change in the data collection system in Hungary from 2006 emphasizing on the randomised sampling of foodstuff instead of mistake oriented sampling system. The aim of this change in sampling system is to collect representative data on consumers exposure which can further be used in risk assessment. The aim of this study is to provide summarized data on the prevalence of the most important foodborn pathogenic microorganisms as Salmonella spp., Listeria monocytogenes, verotoxic E. coli and thermotolerant Campylobacter spp. in different matrixes. Data on prevalence of Salmonella spp. are presented not only from food, but also on animal flocks of table egg layers and broiler chicken. There is a significant difference between the prevalence of specific Salmonella serovars in different kinds of foodstuffs and animal flocks. S. Enteritidis is the most frequently isolated serovar in table egg layer flocks and egg products as in broiler flockes and chicken meat is contaminated with S. Infantis. Listeria monocytogenes can be sporadically isolated from many kinds of ready-to-eat food, but the level of contamination is very low, below the hazardous level for consumer of 100 cfu/gram. The prevalence of Campylobacter in raw poultry meat is high, more than 50% of the samples are contaminated. The contamination of beef, pork and raw milk is very low, between 1-5%

Új pathomechanizmusok és kezelési lehetőségek vizsgálata a vese ischémia/reperfúziós károsodásában és krónikus allograft nephropathiában = Investigation of new pathomechanisms and treatment possibilities of renal ischemia/reperfusion injury and chronic allograft nephropathy

Eredményeink az erythropoietin (EPO) védő szerepét igazolták egyoldali vese ischemia/reperfúziós (I/R) károsodásban. Ez a védő szerep elsősorban hímekben igazolható. Hátterében az EPO HSP72-mediálta hatása állhat, amellyel a Na+/K+ ATP-áz funkciójának megtartását segíti elő. Vizsgálataink során az EPO sejt-protektív hatásának hátterében egy új szignál molekulát is sikerült azonosítanunk, a szérum és glükokortikoid aktiválta kináz-1-t (SGK1). Ezek az eredmények az EPO által kifejtett sejtprotekció hátterében álló új pathomechanizmusokat írtak le. Eredményeink alapján az EPO, illetve a leírt útvonalakra ható egyéb szerek további vizsgálata és klinikai hasznosítása jöhet szóba. Másik vizsgálatunk során az I/R-s károsodás kivédésében szerepet játszó mechanizmusok során megfigyelhető nemi különbségeket írtuk le. Igazoltuk, hogy hímekben elsősorban a HIF 1α, míg nőstényekben a HSF útvonal tűnik fontosabbnak. Végül igazoltuk. hogy az SGK1 anti-apoptotikus és sejtvédő funkciójában is nemi különbségek mutathatók ki I/R-t követően. Ezekkel az eredményeinkkel magyarázhatóak az irodalomban korábban leírt és egymásnak ellentmondó közlések, amelyek a tesztoszteron SGK1 reguláló hatását mutatták be. | Our results suggest that EPO protects against severe, unilateral renal I/R injury, especially in male rats. This beneficial effect might be partly the result of EPO’s HSP72-mediated impact on Na+/K+ATPase-α1. Moreover, our data report a new signaling molecule to be involved in EPO cytoprotective actions, since we identified for the first time an important role of SGK1 in the renoprotective effect of EPO. These observations provide insights into a novel signaling mechanism by which EPO partly exerts its potent tissue protective actions. Given our results along with previous reports, the clinical use of EPO possibly leading to reduced cellular damage due to ischemic events should be considered. Our study has revealed a gender-dependent protective mechanism during renal I/R injury. In males mostly the HIF 1α, while in females the HSF is the dominant transcriptional pathway. The EPO treatment results in disappearance of the characteristic signal pathway activation in both genders. The explanation for that could be either a direct negative feedback effect on the transcription factors or an indirect renal protective effect of EPO by which these transcriptional factors do not need to be activated. We could also demonstrate that the anti-apoptotic SGK1 shows a gender-specific expression pattern after renal I/R with higher levels in male rats. These results confirm previous contradictory reports showing that SGK1 might be up-regulated and activated by testosterone

Examination of the condition of the oldest trees in the Buda Arboretum

The Buda Arboretum is one of the richest plant collections in Hungary, located in the heart of Budapest, at the southern foot of Gellért Hill. The arboretum was initiated in 1893-94, now the garden covers 7,5 hectares and it surrounds the buildings of Buda Campus of the University of Agriculture and Life Sciences. The yearly precipitation is about 600 mm, to which 150-200 mm of irrigation water is added during the vegetation period. The soil is a strongly eroded humus carbonate or brown forest soil and contains lime and clay. The content of active calcium is high, the pH is alkaline, around 8. Our study aimed to examine the old trees in the garden, understand their overall health, and develop optimal tree care recommendations to ensure their long-term life. The ecosystem services of the old tree individuals are far higher than that of young trees. A mature, more than a hundred-year-old tree with a large crown brings us as much benefit as 200-400 young individuals. The oldest trees in the arboretum are 120-130 years old. Among these champion trees, the following three species appear Carya cordiformis (Wangenh.) K. Koch, Fagus sylvatica L. ‘Pendula’, Parrotia persica C.A. Mey. We examined one individual of each three species with the following method: measuring the physical parameters of the trees (the size and height of the trunk and the crown); investigating the health condition of the trees with an instrumental wood investigation with Arborsonic 3D Acoustic Tomography (Fakopp 3D). We evaluated the results by applying a five-step tree condition assessment method of the European Union, especially concerning the effects of climate change. We found that most of the examined trees are in relatively good condition, but they have more dry branches in their crowns and more lairs in their trunk. Maintaining the garden\u27s tree population is a priority, and this is helped by the fast and professional tree care interventions, which is also due to the fact that the garden is also the practical site for tree care training. 2021 was a record year for detailed instrumental tree surveys, with 11 3D acoustic tomographs measuring at the same time. Accurate analyses will help to determine precise treatments in the long term. Keywords: arboretum, maintenance of old trees, visual tree examination, instrumental tree examination, climate chang

Urocortin 2 treatment is protective in excitotoxic retinal degeneration

Urocortin 2 (Ucn 2) is a corticotrop releasing factor paralog peptide with many physiological functions and it has widespread distribution. There are some data on the cytoprotective effects of Ucn 2, but less is known about its neuro- and retinoprotective actions. We have previously shown that Ucn 2 is protective in ischemia-induced retinal degeneration. The aim of the present study was to examine the protective potential of Ucn 2 in monosodiumglutamate (MSG)-induced retinal degeneration by routine histology and to investigate cell-type specific effects by immunohistochemistry. Rat pups received MSG applied on postnatal days 1, 5 and 9 and Ucn 2 was injected intravitreally into one eye. Retinas were processed for histology and immunocytochemistry after 3 weeks. Immunolabeling was determined for glial fibrillary acidic protein, vesicular glutamate transporter 1, protein kinase Cα, calbindin, parvalbumin and calretinin. Retinal tissue from animals treated with MSG showed severe degeneration compared to normal retinas, but intravitreal Ucn 2 treatment resulted in a retained retinal structure both at histological and neurochemical levels: distinct inner retinal layers and rescued inner retinal cells (different types of amacrine and rod bipolar cells) could be observed. These findings support the neuroprotective function of Ucn 2 in MSG-induced retinal degeneration