A kényszerkollektivizálás következményei az egyházközségek gazdasági életére és infrastruktúrájára Szolnok megyében, 1959-1962

The present study examines the ecclesiastical-historical aspects of the forced collectivisation of agriculture through the example of Szolnok County, which was a sample area of the Great Hungarian Plain. The ecclesiological consequences of the full-scale implementation of collectivization between 1959 and 1962 were of particular importance for the Hungarian Socialist Workers’ Party. In addition to the documents of the Presidential and downgraded Secretly Administered State Office of Church Affairs, the research relies on the documents produced by the lower administrative level council and party bodies of the local and regional level of the party state established after Sovietization. The project focuses on the everyday pressures of power exercised by the local organs of the party state and aims to explore the effects on the economic situation of the congregations, traditional community behaviours and micro-social structures in the mixed-denominational landscape of Jászság and Nagykunság. Relatively little is known about the economic, social, and cultural effects of forced collectivisation on historical denominations. An authentic image of this can be found in a micro-level study of a well-defined area, in an authentic depiction of the local clergy’s environment of action, its relations with the party-state organs and its own congregation. This is the aim of the study, which is intended to provide a basis for further research

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.

Isolated macrodactyly (OMIM 155500) belongs to a heterogeneous group of overgrowth syndromes. It is a congenital anomaly resulting in enlargement of all tissues localized to the terminal portions of a limb and caused by somatic mutations in the phosphatidylinositol 3-kinase catalytic alpha (PIK3CA, OMIM 171834) gene. Here we report a Hungarian girl with macrodactyly and syndactyly. Genetic screening at hotspots in the PIK3CA gene identified a mosaic mutation (c.1624G > A, p.Glu542Lys) in the affected tissue, but not in the peripheral blood. To date, this somatic mutation has been reported in eight patients affected by different forms of segmental overgrowth syndromes. Detailed analysis of the Hungarian child and previously reported cases suggests high phenotypic diversity associated with the p.Glu542Lys somatic mutation. The identification of the mutation provides a novel therapeutic modality for the affected patients: those who carry somatic mutations in the PIK3CA gene are potential recipients of a novel "repurposing" approach of rapamycin treatment.This research was supported by the European Union and the State of Hungary, co-financed by the European Social Fund in the framework of TÁMOP-4.2.4.A/ 2-11/1-2012-0001 “National Excellence Program.” Nikoletta Nagy was also supported by the Hungarian Scientific Research Fund (OTKA) PD104782 grant.This is the author accepted manuscript. The final version is available from Elsevier via http://dx.doi.org/10.1016/j.ejmg.2016.02.00

Delineating the genetic heterogeneity of OCA in Hungarian patients

BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities characterized by variable hair, skin, and ocular hypopigmentation. Six known genes and a locus on human chromosome 4q24 have been implicated in the etiology of isolated OCA forms (OCA 1-7). METHODS: The most frequent OCA types among Caucasians are OCA1, OCA2, and OCA4. We aimed to investigate genes responsible for the development of these OCA forms in Hungarian OCA patients (n = 13). Mutation screening and polymorphism analysis were performed by direct sequencing on TYR, OCA2, SLC45A2 genes. RESULTS: Although the clinical features of the investigated Hungarian OCA patients were identical, the molecular genetic data suggested OCA1 subtype in eight cases and OCA4 subtype in two cases. The molecular diagnosis was not clearly identifiable in three cases. In four patients, two different heterozygous known pathogenic or predicted to be pathogenic mutations were present. Seven patients had only one pathogenic mutation, which was associated with non-pathogenic variants in six cases. In two patients no pathogenic mutation was identified. CONCLUSIONS: Our results suggest that the concomitant screening of the non-pathogenic variants-which alone do not cause the development of OCA, but might have clinical significance in association with a pathogenic variant-is important. Our results also show significant variation in the disease spectrum compared to other populations. These data also confirm that the concomitant analysis of OCA genes is critical, providing new insights to the phenotypic diversity of OCA and expanding the mutation spectrum of OCA genes in Hungarian patients

Revealing a Phenotypical Appearance of Ibrutinib Resistance in Patients With Chronic Lymphocytic Leukaemia by Flow Cytometry

Background: Ibrutinib is widely known as an effective and well-tolerated therapeutical choice of the chronic lymphocytic leukaemia (CLL). However, acquired resistance may occur during the treatment, causing relapse. Early detection of ibrutinib resistance is an important issue, therefore we aimed to find phenotypic markers on CLL cells the expression of which may correlate with the appearance of ibrutinib resistance