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Biomedical subjects

J László

Publications and source records attributed to J László.

At least 19 recordsLinked to original sources
PubMed1996

[Fluorescence in situ hybridization in prenatal diagnosis. First experiences].

The authors examined the potential use of non-radioactive in situ hybridization in prenatal screening. Probes for chromosomes 18, 13/21, 21 and X were applied on fourteen samples of peripheral lymphocytes and nine samples of chorionic villi. The aim of the study was to compare the analyzability of the two different DNA probes for chromosome 21 on six samples of chorionic villi. Six of the nine samples of chorionic villi were hybridized with probes specific for chromosome 21 and all six cases were diagnosed properly. However, we need more data to establish a screening protocol for routine prenatal cytogenetics.

Chromosomes, Human, Pair 13↗
PubMed1992

[Spinal and appendicular osteoporosis in streak gonad syndrome. Photon absorptiometric and roentgen-morphometric studies].

Patterns of bone loss in the axial and the appendicular skeleton were studied in 48 women with streak gonad syndrome (age: between 14-38 years, mean: 25.5 years). Bone mineral content was measured in vivo at the lumbar spine and right femoral neck by dual photon absorptiometry and at the midradius and distal radius by single photon absorptiometry. The bone mineral status of 20 patients was evaluated by radiomorphometrical indices of the metacarpals, femorals and lumbar spine, too. Mean bone mineral content and radiomorphometrical indices were significantly lower in patients with streak gonad syndrome than in age-matched normal subjects at all three scanning sites. The patients lost cortical and trabecular bone mineral content at the same rate, suggesting that bone loss in streak gonad syndrome is a generalized phenomenon. In spite of serious bone loss osteoporotic fractures were not observed in the patients, in contrast to patients with pathological post-menopausal osteoporosis having equal degree of bone deficiency. The authors did not find any relationship between the occurrence of osteoporosis and the karyotype of the patients. It is suggested that the osteoporosis in streak gonad syndrome--at least after puberty--is a consequence of gonadal hormone deficiency.

Absorptiometry, Photon↗
PubMed1992

[Results of prenatal cytogenetic screening at the Prenatal Genetic Center of the Postgraduate Medical University between 1980-1990].

Evaluation of prenatal cytogenetic diagnosis by Genetic Center of Postgraduate Medical University in 1980 and 1990. Between 1980 and 1990, 1039 amniocenteses (AC), 1263 chorionic villus samples (CVS), and 30 fetal blood sampling were performed for cytogenetic reasons. The rate of chromosome abnormalities were 5.5 per cent in the first trimester CVS, 5.2 per cent in the second trimester CVS, and 3.1 per cent in AC. The Down syndrome was the most frequent abnormality (46 fetuses) and the next was the Edwards syndrome (15 cases). It was established that though the case number is fourteen times more than the beginning of this decade, this was enough only for screening women 39 or over. During this period several new methods were introduced making possible the diagnosis from 9th week of pregnancy until term. Among these methods the CVS has not only become an alternative to the AC but now it is the most frequent procedure in our laboratory. Though most pregnants are still referred for prenatal cytogenetic investigation because of their advanced age, the authors search for other risk factors which would make possible screening in younger women, too.

Amniocentesis↗
PubMed1992

Tetraploidy in human placenta. A dilemma in molar and non-molar pregnancies.

17 cases of partial molar pregnancy were analysed cytogenetically by the direct-preparation method. Eight partial moles were triploid, 7 diploid/tetraploid mosaic, and 2 tetraploid. In the course of prenatal cytogenetic screening, out of 1,263 chorionic villus samplings, 2 tetraploid and 1 diploid/tetraploid cases were found. These cases of partial moles do not fit into the usual patterns of triploid partial moles. The findings presented here suggest that different causative factors may be involved in the origin of molar degenerations. These results also call to attention that tetraploidy is an existent and relatively common abnormality.

Adult↗
PubMed1991

[Transabdominal chorion aspiration in the second pregnancy trimester].

The authors report their experiences with 377 transabdominal chorionic villi samplings performed in the second trimester of pregnancy, between 1987-1989. They used the double needle technique with continuous ultrasound guidance. In every case they could get a sufficient amount of villi from one puncture, and there was no unsuccessful direct chromosome-preparation. The obstetrical complications of the procedure were measured by the analysis of the outcome of the first 300 pregnancies intended to continue: the abortion rate after the transabdominal chorionic villi sampling seems to be lower, than after amniocentesis.

Adult↗
PubMed1991

Serum bone Gla protein in streak gonad syndrome.

Osteoporosis is one of the most common complications of streak gonad syndrome (SGS), however its pathogenesis is still unclear. Bone Gla protein (BGP) has been found to be a serum marker of bone turnover in various metabolic disease states. In the present study serum BGP and alkaline phosphatase (AP) were measured in 13 osteoporotic patients with SGS and in 56 healthy women. Mean (+/- SD) serum BGP levels were normal (7.5 +/- 2.0 ng/ml) in seven patients who had been on estrogen-progestin replacement therapy and became significantly elevated (P less than 0.001) 2 and 3 months after discontinuation of the treatment (15.3 +/- 2.3 and 13.2 +/- 1.0 ng/ml, respectively). Mean (+/- SD) serum AP (207 +/- 65 U/l) showed significant increases (P less than 0.05) 2 months after withdrawal of hormonal substitution (287 +/- 74 U/l). Mean (+/- SD) serum BGP (15.4 +/- 3.5) and AP (287 +/- 49) levels were significantly higher (P less than 0.001 and less than 0.05, respectively) in six patients with SGS who had not been on hormonal substitution. These findings are consistent with those obtained in postmenopausal women suffering from "high remodelling osteoporosis" and suggest that bone turnover in osteoporotic patients with SGS is increased and the skeletal loss is a consequence of accelerated bone loss rather than decreased bone formation.

Adult↗
PubMed1991

Prenatal cytogenetic study of translocation carriers.

A total of 37 prenatal diagnoses were analysed: 10 observations in which one of the parents carried a Robertsonian translocation and 27 observations in which one a reciprocal translocation was carried by one of the parents. The segregations of the inherited chromosome structural rearrangements were analysed in relation to the methods of ascertainment of the anomaly in the family, and the types of rearrangement. The mode of ascertainment proved to be a very useful indicator of the risk: those cases ascertained through abnormal livebirths had a 44% risk in our series, but there was no unbalanced fetus in the group ascertained through recurrent abortions.

Chromosomes, Human, Pair 21↗
PubMed1990

[Fetal diagnosis of Edwards syndrome].

Eight cases of Edward's syndrome were found prenatally by cytogenetical analysis of 1680 pregnant women. It has been estimated that after Down's syndrome Edwards's syndrome is the most frequently encountered chromosomal abnormality. This syndrome is associated with high rate of anomalies detectable by ultrasound (e.g. omphalocele, polyhydramnion, growth retardation). Here it is discussed in relation with sonographical findings related to Edwards's syndrome and representing clear indications for chromosomal analysis. The authors call attention to the importance of the diagnosis of Edward's syndrome at each gestational age.

Abnormalities, Multiple↗
PubMed1990

[Rudimentary ovary syndrome].

21 patients with rudimentary ovary syndrome were studied with a review of the literature. Rudimentary ovary syndrome is one of the syndromes of primary ovarian failure characterised by limited ovarian function around puberty. Some cases are associated with chromosomal abnormalities, some others may be due to immunologic defect. Treatment considerations are discussed.

Adolescent↗
PubMed1990

CA 125 levels in patients with hypoestrogenic ovarian failure.

The source of CA 125 in the sera of women is not known. Serum CA 125 concentrations were measured in 36 women with hypoestrogenic ovarian failure of whom 30 had hyper-(group A), 6 had hypo- or normogonado-tropic amenorrhea (group B). Group A consisted of 16 women with streak gonad syndrome, 6 with rudimentary ovary syndrome, 5 with premature menopause syndrome and 3 with gonadoblastoma. Serum CA 125 levels were normal in 34 patients irrespective of the presence of associated sex chromosome anomalies, and their mean values did not differ significantly from those of the 9 age-matched controls. We also measured normal CA 125 values in 2 females with müllerian agenesis. These data indicate that the derivatives of müllerian ducts do not contribute significantly to the presence of CA 125 in the sera of nonmenstruating adult women, and that the abnormalities of the X chromosome do not seem to influence CA 125 levels.

Adolescent↗
PubMed1989

45,X streak gonad syndrome associated with bilateral 'burnt out' gonadoblastoma.

A 28-year-old woman with well-developed female secondary sexual characteristics, secondary amenorrhea, short stature and a few somatic anomalies of streak gonad syndrome who had bilateral 'burnt out' gonadoblastoma associated with 45,X karyotype is reported. Although the exact source of steroid production in the present case could not be defined, it seems probable that the tumor once secreted steroid hormones which were responsible for the development of the female secondary sexual characteristics. At the time of diagnosis there was no evidence of hormonal activity of the tumor. Cases of gonadoblastoma without Y chromosome are reviewed. The diagnostic difficulties encountered in patients with gonadoblastoma not associated with Y chromosome are discussed.

Adult↗
PubMed1988

Skeletal maturation in streak gonad syndrome.

Skeletal ages of patients with streak gonad syndrome were determined by the Schinz and TW2 methods as well as by bone scans. Seventy-three subjects were examined. They were classified according to their chromosomal complement, body height, chronological age and previous hormonal treatment. Retarded bone age was a common finding on the hand, wrist, hip, knees and spine with significant coexistence; however, the extent of delay in skeletal maturation on various bones differed considerably. There was no significant correlation between bone age and chronological age, karyotype, body height and previous hormonal replacements, respectively. This finding suggests that retarded skeletal maturity in streak gonad syndrome is neither the consequence of estrogen deficiency nor due to sex chromosome abnormalities and probably is not dependent on growth hormone secretion. Its pathogenesis appears to be multifactorial and remains to be determined.

Adolescent↗
PubMed1988

[Partial mole with lung metastases and multiple abnormalities of the fetus].

The authors report on a patient with partial mole, multiple malformations and lung metastases requiring chemotherapy. This case shows that the partial hydatidiform mole must therefore be carefully monitored by serial beta-hCG titres following evacuation to ensure the achievement of complete sustained remission.

Abnormalities, Multiple↗
PubMed1988

[Analysis of the operation of a network of genetic counseling centers in Hungary 1978-1985].

The activity of the 15 genetic counseling and 4 prenatal genetic centers working within the frame of family planning and women protection network in 8 years has been analyzed by the authors. The frequency of consultations in the period examined increased twofold. Although the number of pathologic cases prenatally diagnosed raises from year to year, it is necessary to inform the genetic counseling centers for controlling their effectivity. The authors demand in cases of suspicious teratogenic defects hereditary diseases to take genetic expert opinion before abruptio of pregnancy. The valuation of serum alpha-protein examinations is possible only in correlation to gestational age. The authors give the recommendation to all obstetricians and midwives involved in outpatient pregnancy care to cause all pregnant women older than 40 years to go to see genetic counseling centre before 11th gestational week. Only in this way we can wait for better results yet.

Abortion, Eugenic↗