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001-es BibID:	BIBFORM006924
Első szerző:	Czeizel A.
Cím:	A nationwide evaluation of multiple congenital abnormalities in Hungary / Czeizel A., Kovács M., Kiss P., Méhes K., Szabó L., Oláh É., Kosztolányi Gy., Szemere Gy., Kovács H., Fekete Gy., Neel, J. V.
Dátum:	1988
Megjegyzések:	A population-based study of 7,049 index patients with multiple congenital abnormalities (MCA) born in Hungary during 1973-1982 was organized by the Hungarian Center for Congenital Anomaly Control. All clinically recognized syndromes and associations which were submitted (2,049) were accepted without any further follow-up. New or supplementary information was requested in the case of unspecified MCA (320). A copy of detailed necropsy records was requested from pathologists in lethal cases (2,022). Following these steps, apparent but not true instances of MCA were excluded (399), and an attempt was made to assign as many of the remainder as possible in 17 well-delineated MCA entities (900). The living index patients with severe MCA were referred where possible to the regional centers for evaluation (864). One hundred and seventy entities were identified, and seven cases were excluded as not representing MCA. In the so-called 3,393 unidentified cases for which no diagnosis was possible, the component abnormalities were tabulated according to their number. The final count was 6,643 cases with MCA, which is equivalent to a birth prevalence of 4.0 per 1,000 total births, and to 10% of recorded cases with congenital anomalies. As a result of this program the proportion of recognized syndromes and associations among children with MCA increased from 29% to 47%. The accuracy of diagnoses has improved, e.g., the occurrence of unspecified cases decreased from 4.5% to 2%. As a result of this study, the number of chromosomal (1,700), Mendelian (557), and teratogenic (104) syndromes and associations (758) was considerably greater than the initial notifications indicated.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Genetic Epidemiology. - 5 : 3 (1988), p. 183-202. -
További szerzők:	Kovács Márta Kiss P. Méhes Károly Szabó L. (orvos Szombathely) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Kosztolányi Gy. Szemere Gy. Kovács Helga Fekete György Neel, James V.
Internet cím:	DOI
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001-es BibID:	BIBFORM046355
Első szerző:	Melegh Béla
Cím:	Mitokondriális DNS deléció herediter cardio-encephalo-myopathiában / Melegh Béla, Seress László, Sümegi Balázs, Trombitás Károly, Bock Ildikó, Kispál Gyula, Oláh Éva, Méhes Károly
Dátum:	1995
Tárgyszavak:	Orvostudományok Klinikai orvostudományok magyar nyelvű folyóiratközlemény hazai lapban
Megjelenés:	Orvosi Hetilap. - 24 : 1 (1995), p. 1275-1279. -
További szerzők:	Seress László (1950-) (orvos) Sümegi Balázs Trombitás Károly Bock Ildikó Kispál Gyula Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Méhes Károly
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM046094
Első szerző:	Melegh Béla
Cím:	Phenotypic manifestations of the OCTN2 V295X mutation : sudden infant death and carnitine-responsive cardiomyopathy in Roma families / Melegh Béla, Bene Judit, Mogyorósy Gábor, Havasi Viktória, Komlósi Katalin, Pajor László, Oláh Éva, Kispál Gyula, Sumegi Balázs, Méhes Károly
Dátum:	2004
ISSN:	0148-7299 1096-8628
Megjegyzések:	In two non-consanguineous Hungarian Roma (Gypsy) children who presented with cardiomyopathy and decreased plasma carnitine levels, we identified homozygous deletion of 17081C of the SLC22A5 gene that results in a frameshift at R282D and leads ultimately to a premature stop codon (V295X) in the OCTN2 carnitine transporter. Carnitine treatment resulted in dramatic improvement of the cardiac symptoms, echocardiographic, and EKG findings in both cases. Family investigations revealed four sudden deaths, two of them corresponded to the classic SIDS phenotype. In postmortem tissue specimens available from three of them we could verify the homozygous mutation. In liver tissue reserved from two patients lipid droplet vacuolization could be observed; the lipid vacuoles were located mainly in the peripherolobular regions of the acini. In the heart tissue signs of generalized hypertrophy and lipid vacuoles were seen predominantly in the subendocardial areas in both cases; some aggregates of smaller lipid vacuoles were separated, apparently by membranes. Review of all OCTN2 deficiency cases reported so far revealed that this is the first presentation of histopathology in classic familial sudden infant death syndrome (SIDS) with an established SLC22A5 mutation. In addition to the two affected homozygous cardiomyopathic children and three homozygous sudden death patients, the genetic analysis in 25 relatives showed 14 carriers. The mutant gene derived from five non-consanguineous grandparents, each of them having 6-14 brothers and sisters. This alone suggests a wide ancestral spread of the mutation in certain Roma subpopulations.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	American Journal of Medical Genetics Part A. - 131A : 2 (2004), p. 121-126. -
További szerzők:	Bene Judit Mogyorósy Gábor (1960-) (csecsemő- és gyermekgyógyász, gyermekkardiológus) Havasi Viktória Komlósi Katalin Pajor László (patológus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Kispál Gyula Sumegi Balázs Méhes Károly
Pályázati támogatás:	T-32670 OTKA T-35026 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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