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G Fekete

Publications and source records attributed to G Fekete.

At least 19 recordsLinked to original sources
PubMed1992

[Detection of delta F508 mutation in cystic fibrosis].

The common major mutation (delta F508) resulting in the removal of a phenylalanine residue of the cystic fibrosis gene product has been identified in patients with cystic fibrosis in several European countries. The frequency of this mutation was analyzed in 39 Hungarian patients with cystic fibrosis and in some of their relatives. In 43 out of the total 65 persons involved in the study (66.15%), and in 50% of cystic fibrosis chromosomes the delta F508 mutation could be detected. 56.4% of the patients were homozygous for the mutation. The frequency of the delta F508 mutation in these Hungarian patients resembles the values found in Middle Europe. Pulmonary and enteral symptoms were more severe in cystic fibrosis patients with delta F508 mutation. Although the number of patients is relatively low, missing or mild lung involvement characterized the cases with non-delta F508 mutation.

Adult↗
PubMed1992

[Three-dimensional CT studies of pelvic fractures].

Authors use in the diagnosis of fractures of the pelvis a three dimension programme developed by them to the tomographic apparatus of the Siemens Somatom CR computer. With the demonstration of a few pictures of their own they call attention to the possibility of diagnosis given by the 3D-CT programme. On the basis of their experiences the advantages and disadvantages of this modern imaging method are summarized.

Fractures, Bone↗
PubMed1991

[Sphincter-saving procedure of abdomino-peritoneal amputation? Surgical management of cancer of the lower two third of the rectum].

UNLABELLED: The authors report their results in surgical treatments of carcinoma localized in the low two thirds of the rectum done between 1980 and 1988. The number of patients was 150. Resectability: 119/150 = 79.33 per cent. Lethality: 4/119 = 3.3 per cent. Seventy three of the patients (61 per cent) had sphincter saving procedures and 46 of them (38.7 per cent) had abdominoperineal excision. Out of the 64 low anterior resection 2 patients (L: 2/64 = 3.1 per cent) and out of the 46 abdominoperineal excision also 2 patients (L: 2/46 = 4.5 per cent) were lost. In the sphincter saving group the distal clearance margin was decreased to below 3 cms at 29 patients without having local recurrence. CONCLUSION: in many cases of the carcinoma localized in the middle third of the rectum (at 82 per cent of our own patients) the sphincter can be saved without having more local recurrences. Decreasing the distal clearance margin to 2.5 cms does not increase the possibility of local recurrence if we do it cranially the same way as at Miles operation and remove the mesorectum caudally and laterally.

Anal Canal↗
PubMed1991

[Pilon or pylon?].

Explore the source record for details and available documents.

Artificial Limbs↗
PubMed1990

[Gallbladder torsion in infants].

The infrequent case of gallbladder torsion and accompanying Meckel's diverticulum in a 3-year-old girl, is described. Detorquation, cholecystectomy and resection of the diverticulum were performed. Condition of the development of the disease as well as its clinical aspects and therapy are discussed. It is suggested to explore the abdominal cavity for other developmental anomalies in the course of the operation. The patient recovered without complications and left the hospital 14 days after the operation.

Child, Preschool↗
PubMed1990

Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.

Phenylketonuria (PKU) is a genetic disorder secondary to a deficiency of hepatic phenylalanine hydroxylase (PAH). Several mutations in the PAH gene have recently been reported, and linkage disequilibrium was observed between RFLP haplotypes and specific mutations. A new molecular lesion has been identified in exon 7 of the PAH gene in a Hungarian PKU patient by direct sequencing of PCR-amplified DNA. The C-to-T transition causes the substitution of Arg243 to a termination codon, and the mutant allele is associated with haplotype 4 of the PAH gene. The mutation is present in two of nine mutant haplotype 4 alleles among Eastern Europeans and is not present among Western Europeans and Asians. The rarity of this mutant allele and its restricted geographic distribution suggest that the mutational event occurred recently on a normal haplotype 4 background in Eastern Europe.

Alleles↗
PubMed1990

Role for the Wilms tumor gene in genital development?

Detailed molecular definition of the WAGR region at chromosome 11p13 has been achieved by chromosome breakpoint analysis and long-range restriction mapping. Here we describe the molecular detection of a cytogenetically invisible 1-megabase deletion in an individual with aniridia, cryptorchidism, and hypospadias but no Wilms tumor (WT). The region of overlap between this deletion and one associated with WT and similar genital anomalies but no aniridia covers a region of 350-400 kilobases, which is coincident with the extent of homozygous deletion detected in tumor tissue from a sporadic WT. A candidate WT gene located within this region has recently been isolated, suggesting nonpenetrance for tumor expression in the first individual. The inclusion within the overlap region of a gene for WT predisposition and a gene for the best-documented WT-associated genitourinary malformations leads us to suggest that both of these anomalies result from a loss-of-function mutation at the same locus. This in turn implies that the WT gene exerts pleiotropic effect on both kidney and genitourinary development, a possibility supported by the observed expression pattern of the WT candidate gene in developing kidney and gonads.

Aniridia↗
PubMed1989

Significance of urgent (within 6h) internal fixation in the management of fractures of the neck of the femur.

The value of internal fixation of fractures of the neck of the femur within 6 h was assessed in a review of a 3-year series. Three groups were compared, in which the operation was performed within 6 h, between 6 and 24 h and after 24 h respectively. The time and quality of union and the incidence of collapse of the head of the femur were significantly better in the first group. The difference in the results between the other two groups was not significant. In view of these data the authors recommend the internal fixation of fractures of the neck of the femur within 6 h.

Adolescent↗
PubMed1989

Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).

DNA haplotype data from the phenylalanine hydroxylase (PAH) locus are available from a number of European populations as a result of RFLP testing for genetic counseling in families with phenylketonuria (PKU). We have analyzed data from Hungary and Czechoslovakia together with published data from five additional countries--Denmark, Switzerland, Scotland, Germany, and France--representing a broad geographic and ethnographic range. The data include 686 complete chromosomal haplotypes for eight RFLP sites assayed in 202 unrelated Caucasian families with PKU. Forty-six distinct RFLP haplotypes have been observed to date, 10 unique to PKU-bearing chromosomes, 12 unique to non-PKU chromosomes, and the remainder found in association with both types. Despite the large number of haplotypes observed (still much less than the theoretical maximum of 384), five haplotypes alone account for more than 76% of normal European chromosomes and four haplotypes alone account for more than 80% of PKU-bearing chromosomes. We evaluated the distribution of haplotypes and alleles within these populations and calculated pairwise disequilibrium values between RFLP sites and between these sites and a hypothetical PKU "locus." These are statistically significant differences between European populations in the frequencies of non-PKU chromosomal haplotypes (P = .025) and PKU chromosomal haplotypes (P much less than .001). Haplotype frequencies of the PKU and non-PKU chromosomes also differ significantly (P much less than .001. Disequilibrium values are consistent with the PAH physical map and support the molecular evidence for multiple, independent PKU mutations in Caucasians. However, the data do not support a single geographic origin for these mutations.(ABSTRACT TRUNCATED AT 250 WORDS)

Alleles↗
PubMed1988

A nationwide evaluation of multiple congenital abnormalities in Hungary.

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.

Abnormalities, Drug-Induced↗
PubMed1988

[The effect of primary nailing on the immediate fate of patients with femoral neck fractures].

Based on their 494 own cases with femoral neck fractures authors investigate the impact on time elapse between the injury and the osteosynthesis upon the outcome of these patients. By comparing two groups with equal severity it was concluded that an operation within 6 hours after the injury is favourable both with regard to the mortality and the systemic or local complications. They provide an explanation for the good results through the analysis of their cases and give a brief review of the literature on this subject as well.

Aged↗
PubMed1987

Skeletal muscle biopsy studies of cardiac patients.

Eleven patients diagnosed and treated for congestive cardiomyopathy (COCM) of unknown aetiology, and another 10 patients, with congestive alcoholic heart muscle disease (ACOCM) were studied. Muscle biopsy samples were obtained from the vastus lateralis (VL) and the gastrocnemius (G) muscles. In part of the sample muscle the fibre pattern was classified by means of ATPase activity staining, a technique based on the pH lability of the fibres concerned. Fibre typing and area measurements were carried out by light microscope. The other part of the sample was used as muscle homogenate of which the Ca2+-activated ATPase activity as well as citrate synthetase (CS) and aldolase activities were measured. No significant difference was found in these enzyme activities between the two groups of patients. The proportion of the slow twitch (ST) fibres in the VL, mainly in the patients with ACOCM, was lower as compared to data for healthy subjects. A similar tendency was revealed for G. In both muscles tested, the area of ST fibres was smaller in the ACOCM group. The fast twitch (FT) fibre area proved to be slightly different in the two groups of subjects tested. Occurrence of degenerative signs in the histological tests was higher in the ACOCM than in the COCM group. It was concluded that differences in the skeletal muscles of patients with ACOCM and COCM may primarily account for the alcoholism. The disease of the heart muscle has little effect on the function of skeletal muscle. Even so, a low amount or lack of physical activity may have an unfavourable influence on the skeletal muscles of patients with heart muscle disease.

Adenosine Triphosphatases↗
PubMed1986

Use of catalase polymorphisms in the study of sporadic aniridia.

Catalase is known to map at chromosome 11p13. It is one of the closest known markers to the WAGR locus. Restriction fragment length polymorphisms (RFLP) of the catalase gene may be invaluable for studying rearrangements in somatic tumours, linkage in cases of familial Wilms tumour, and the relationship between sporadic and familial aniridia. We describe a catalase RFLP with two different enzymes and use these polymorphisms to exclude deletion of the catalase gene in patients with sporadic aniridia, including one who is known to have a deletion and another suspected of having a deletion.

Catalase↗
PubMed1986

Metabolic enzyme activity patterns in muscle biopsy samples in different athletes.

Citrate synthase (CS) and aldolase (ALD) activities and muscle fiber composition were compared in the muscles of high jumpers, sprinters, race walkers, middle distance runners and untrained men. Muscle biopsy samples were taken from vastus lateralis (VL) and gastrocnemius (G) in each group. Oxidative enzyme activity (CS, IU X g-1 ww) was highest (24.64 and 15.0 in G and VL, respectively) in endurance-trained top race walkers, followed in order by the middle distance runners (G: 17.28, VL: 12.29), untrained controls (G: 11.17, VL:8.10) and the high jumpers (G: 11.51, VL: 8.89). All athletes performing intense endurance exercise with the leg musculature displayed 30 to 60% higher CS activity and 20 to 40% higher ST% in G than in VL. Glycolytic enzyme activity (ALD approximately 28 IU X g-1 ww) was highest in both muscles in the sprinters, followed by the high jumpers (23 IU X g-1 ww). Novice runners had 30 to 50% lower ALD and CS activity than experienced sportsmen. The differences arise not only from age, but also from the periods of regular exercise and adaptation to training in elite sportsmen. It was concluded that the more intensive the sporting activity of a muscle, the higher its enzyme activity (as with oxidative or glycolytic metabolism). The correlations between fiber composition and enzyme activities differed in VL and G in the same sportsmen. Thus, the degree of adaptation due to training also differed.

Adaptation, Physiological↗
PubMed1986

The effect of fatigue on store and re-use of elastic energy in slow and fast types of human skeletal muscle.

Stretch-shortening exercises are characterized by enhancement of performance when compared to the work output performed in shortening conditions. There is evidence that fast subjects are unable to re-use great amounts of elastic energy during stretch-shortening cycles performed with slow stretching speed and large stretching length. In the present study, 14 subjects possessing different fibre types in m. vastus lateralis performed vertical jumps with and without preliminary countermovement and with large angular displacement and slow stretching speed The jumping tests were executed before and immediately after fatigue induced by short intense exercises (60 s of continuous rebound jumping). The results indicated that the percentage of re-use of elastic energy was more pronounced in slow subjects compared to fast ones during the test performed before fatigue (28.3% vs. 22.8%). In contrast fast subjects demonstrated a greater percentage re-use of elastic energy than slow ones after fatigue (32% vs. 22.5%). Similarly, the negative relationship observed before fatigue, between the percentage of re-use of elastic energy and percentage of fast twitch fibres (r = 0.50, n = 14, P less than 0.05), was reversed after fatigue (r = 0.55, n = 14, P less than 0.05). The results can be interpreted through differences in sarcomere cross-bridges life-times between fast and slow twitch muscle fibres. The slow twitch-type muscle fibre may be able to retain the cross-bridge attachment for a longer period of time during no fatigued conditions, and therefore it may utilize elastic energy better in slow type ballistic motion. On the other hand, fast twitch type muscle fibres are more affected by fatigue, which might have induced a remarkable decrease of the cross-bridge attachment detachment cycle. Decrease of the cross-bridge rate cycle might allow fast twitch-type muscle fibres to retain longer the elastic energy stored during the stretching phase and then re-use it during positive phase.

Adult↗