Doxorubicin Selectively Inhibits Brain versus Atrial Natriuretic Peptide Gene Expression in Cultured Neonatal Rat Myocytes

Doxorubicin is an antineoplastic agent with significant cardiotoxicity. We examined the effects of this agent on the expression of the natriuretic peptide (NP) genes in cultured neonatal rat atrial myocytes. Doxorubicin suppressed NP secretion, steady-state NP mRNA levels, and NP gene promoter activity. In each instance, brain NP (BNP) proved to be more sensitive than atrial NP (ANP) to the inhibitory effects of the drug. ICRF-187 and probucol reversed the inhibition by doxorubicin of ANP mRNA accumulation and ANP gene promoter activity while exerting no effect on BNP mRNA levels or promoter activity. This represents the first identification of the NP genes as targets of doxorubicin toxicity in the myocardial cell. This inhibition operates predominantly at a transcriptional locus and has more potent effects on BNP versus ANP secretion/gene expression. Measurement of BNP secretion/gene expression may provide a sensitive marker of early doxorubicin cardiotoxicity

Establishing an Internet Based Paediatric Cancer Registration and Communication System for the Hungarian Paediatric Oncology Network

Cancer registration has developed in Europe over the last 50 years, and in the last decade intensive joint activities between the European Cancer Registries, in response to the need of pan-European harmonization of registration practices, have taken place. The Hungarian Paediatric Cancer Registry has been functioning as the database of the Hungarian Paediatric Oncology Network since 1971, aiming to follow the incidence and the treatment efficacy of malignant diseases.The goals of this globally unique open source information system are the following: 1) to raise the quality of the registration system to the European level by developing an Internet-based registration and communication system, modernizing the database, establishing automatic statistical analyses and adding an Internet website, 2) to support clinical epidemiological studies that we conduct with international collaborators on detailed analyses of the characteristics of patients and their diseases, evaluation of new diagnostic and therapeutic methods, prevention programs, and long-term quality of life and side effects.The benefits of the development of the Internet-based registration and communication system are as follows: a) introduction of an Internet-based case reporting system, b) modernization of the registry database according to international recommendations, c) automatic statistical summaries, encrypted mail systems, document repository, d) application of data security and privacy standards, e) establishment of a website and compilation of educational materials.The overall objective of this scientific project is to contribute towards the improvement of cancer prevention and cancer care for the benefit of the public in general and of cancer patients in particular

Thrombotic Thrombocytopenic Purpura, Moschcowitz Syndrome

The authors present a case of a 16-year-old boy, who was referred to the hospital due to thrombocytopenia, anemia, proteinuria and hyperbilirubinemia. Based on the clinical picture and the laboratory data, thrombotic thrombocytopenic purpura (TTP) was diagnosed. The adequate therapy was immediately started. TTP is quite a rare entity. The etiology and the pathogenesis are not well defined. The authors summarize the different pathomechanisms, which may play a role in the development of TTP. Similarity to the hemolytic uremic syndrome (HUS), therapeutic possibilities, prognosis and the outcome are also discussed. The importance of the early diagnosis of TTP in childhood, and life-saving effect of the adequate treatment are emphasized

Az Országos Gyermektumor Regiszter jelentősége a gyermekonkológiai ellátásban.

National Childhood Cancer Registry has been operated since 1971 by the Hungarian Paediatric Oncology Network. This Registry collects data on epidemiology, treatment modalities and effectiveness, as well as late follow-up of childhood cancers. An internet-based paediatric cancer registration and communication system for the Hungarian Paediatric Oncology Network has been introduced in April, 2010. The National Childhood Cancer Registry contains data of all paediatric cancer patients (0-18 yrs) who have insurance covered by the Hungarian Social Security Card. Creation (1971) and operation of the National Childhood Cancer Registry have been very important steps in the field of childhood oncology to evaluate the efficiency of paediatric oncology treatments as well as maximize return on medical investment. Orv. Hetil., 2014, 155(19), 732-739

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 Ewing-sarcomás betegek tünetmentes túlélési esélyeinek értékelése a Gyermekonkológiai Szekció eredményei alapján

Correlation between different prognostic factors and the overall survival of Ewing's sarcoma patients has been investigted. In this study data have been selected from the databank of Hungarian Pediatric Oncologist Section (1988-1999) (n=65). Whenever it was possible statistical analysis has been performed. Results: In our patients time interval from the primary symptoms to the diagnosis was 2-16 months. The average event-free survival in patients suffering from Ewing's sarcoma without metastasis is 0.39. Meanwhile, this value in patients with pulmonary or other metatasis is 0.24 (Kaplan-Meier analysis). Conclusion: Our results show a moderate difference between the Hungarian and the international event-free survival. Late detection is one of the answers of this discrepancy

A magyarországi informatika történetének rövid vázlata

A NJSZT Informatikatörténeti Fórum gyűjteményébő