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Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

At least 199 records · Page 11Linked to original sources
PubMed1991

[Experience with chorionic villi sampling].

The authors discuss their experiences from 412 chorion villus samplings, (CVS), which they have done under four and a half years since 1985. They used eight types of instruments in performing their examinations and each instrument proved to be satisfactory in the gaining of chorion villus samples, suitable for further tests. They also discuss the bacteria found most frequently in the vagina on the basis of the examination and culturing of both vaginal and cervical fluid done prior to 151 CVS examinations and the effective method with which ascending infection can be prevented. They discuss a distributional pattern of their results based on the different indications for the CVS examinations, and the outcome of each of the pregnancies after CVS. In 377 cases they did direct karyotyping, in 30 cases DNA examination and in five cases enzyme determination also occurred.

Bacterial Infections↗
PubMed1991

[Oligohydramnios in mid-term pregnancy: analysis of 182 cases].

The outcome and pathological background of 182 pregnancies with mid-trimester oligohydramnios are discussed. Maternal serum alpha-fetoprotein (AFP) concentration in the 16th week of gestation was also determined in 119 cases. MSAFP in pregnancies with oligohydramnios associated urinary tract malformations was found to be mostly in the normal range, but it is often elevated in the cases without malformation. In addition, normal AFP was found in most cases, where the newborns survived the perinatal period. It can be concluded, that the elevated maternal serum AFP without ultrasonically detectable malformation refers to the extrafetal origin of the oligohydramnios, and it is recommended to take it into consideration in the genetic counselling practice.

Female↗
PubMed1991

Molecular analysis of cystic fibrosis in the Hungarian population.

Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms (RFLPs) known to be linked to the CFTR gene. The delta F508 deletion was present in 64% of CF chromosomes. As in many other populations, linkage disequilibrium was found between the CF locus and the haplotype B (XV-2c: allele 1, KM-19: allele 2), which accounts for 95% of delta F508 CF chromosomes in our families.

Cystic Fibrosis↗
PubMed1991

[Effect of the GnRH analog buserelin on sex hormone serum level in relation to treatment onset and duration].

Changes of serum estradiol, progesterone, LH, FSH, prolactin, testosterone, androstendione, DHEA and DHEAS levels during a GnRH-analogue (buserelin) treatment have been analysed retrospectively taking account of effectiveness of treatment and its relation to the beginning and duration of treatment. 1200 micrograms/day buserelin were administered intranasally from the first day of the menstrual cycle (n = 30) or the 7th hyperthermic day of the cycle (n = 22). The results proved, that the administration of buserelin to sterile women inhibits the ovarian (estradiol, progesterone) and pituitary (LH, FSH) hormone secretion during the first 10-14 days of treatment. The adrenal hormone secretion (DHEA, DHEAS) remained unaffected, whereas the androgens of ovarian origin (testosterone, androstendione) were suppressed during the GnRH analogue treatment. The serum prolactin level increased during the first two weeks of treatment and returned to pretreatment values within the following two weeks. On the basis of the faster suppression of estradiol secretion with buserelin treatment, beginning in the middle of the luteal phase, this therapy is recommended for ovarian suppression.

Adult↗
PubMed1991

Kinetic properties of intramembrane charge movement under depolarized conditions in frog skeletal muscle fibers.

Intramembrane charge movement was measured on skeletal muscle fibers of the frog in a single Vaseline-gap voltage clamp. Charge movements determined both under polarized conditions (holding potential, VH = -100 mV; Qmax = 30.4 +/- 4.7 nC/micro(F), V = -44.4 mV, k = 14.1 mV; charge 1) and in depolarized states (VH = 0 mV; Qmax = 50.0 +/- 6.7 nC/micro(F), V = -109.1 mV, k = 26.6 mV; charge 2) had properties as reported earlier. Linear capacitance (LC) of the polarized fibers was increased by 8.8 +/- 4.0% compared with that of the depolarized fibers. Using control pulses measured under depolarized conditions to calculate charge 1, a minor change in the voltage dependence (to V = -44.6 mV and k = 14.5 mV) and a small increase in the maximal charge (to Qmax = 31.4 +/- 5.5 nC/micro(F] were observed. While in most cases charge 1 transients seemed to decay with a single exponential time course, charge 2 currents showed a characteristic biexponential behavior at membrane potentials between -90 and -180 mV. The voltage dependence of the rate constant of the slower component was fitted with a simple constant field diffusion model (alpha m = 28.7 s-1, V = -124.0 mV, and k = 15.6 mV). The midpoint voltage (V) was similar to that obtained from the Q-V fit of charge 2, while the steepness factor (k) resembled that of charge 1. This slow component could also be isolated using a stepped OFF protocol; that is, by hyperpolarizing the membrane to -190 mV for 200 ms and then coming back to 0 mV in two steps. The faster component was identified as an ionic current insensitive to 20 mM Co2+ but blocked by large hyperpolarizing pulses. These findings are consistent with the model implying that charge 1 and the slower component of charge 2 interconvert when the holding potential is changed. They also explain the difference previously found when comparing the steepness factors of the voltage dependence of charge 1 and charge 2.

Animals↗
PubMed1991

High preovulatory serum luteinizing hormone level is unfavorable to conception.

Serum estradiol, progesterone and luteinizing hormone (LH) levels of 16 pregnant and 58 non-pregnant stimulated in vitro fertilization-embryo transfer (IVF-ET) or gamete intrafallopian transfer (GIFT) cycles have been compared with regard to their predictive value for achievement of pregnancy. Serum estradiol and progesterone pattern of the pregnant and non-pregnant group did not show any significant difference. Around the time of ovulation induction by human chorionic gonadotropin (hCG) the serum LH values proved to be higher in the non-pregnant group than in the pregnant one. In spite of having a permissive function, preovulatory serum estradiol and progesterone seem not to have a predictive value with regard to pregnancy. Elevated preovulatory serum LH is detrimental for pregnancy, therefore the measurement of serum LH beyond hCG administration also, and the cancellation of cycles with high serum LH levels shortly before oocyte retrieval is recommended.

Adult↗
PubMed1991

Familial occurrence of bilateral renal agenesis.

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling unit of our institute in the last 12 years are reviewed. The only familial recurrent case which has been prenatally diagnosed is described in detail. A urinary bladder anomaly like that of the subsequent third child has not been previously reported. The authors analyze the possible inheritance patterns. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Congenital Abnormalities↗
PubMed1991

Prenatal diagnosis of cystic fibrosis by microvillar membrane enzyme analysis in amniotic fluid.

Prenatal diagnosis was performed in 92 pregnancies high-risk for cystic fibrosis during six years. Amniotic fluid samples obtained by amniocentesis were examined with regard to their microvillar membrane enzyme activity. Though trehalase, alkaline phosphatase isoenzymes and L-gamma-glutamyltransferase in the amniotic fluid are not specific markers of cystic fibrosis, their activity is significantly lower than in normal pregnancies. By measuring the three enzymes simultaneously, sensitivity, specificity and reliability of the method were found to be over 92%. It is concluded that mid-trimester amniotic fluid diagnosis is indispensable for some heterozygotic couples for cystic fibrosis even in the possession of DNA (desoxyrobonucleic acid) methods.

Amniotic Fluid↗
PubMed1990

[Prenatal diagnosis of cystic fibrosis based on DNA analysis].

25 families at risk of having a child with cystic fibrosis have been counselled about prenatal diagnosis by the use of linked DNA probes (xV-2c, pCS.7, Met D, Met H, pJ3.11 and KM 19). In 20 families one or more informative probes, in 3 cases only partly informative probes were found, and in 2 families there was no informative probe at all. In 9 cases prenatal diagnosis have been performed, 6 children have been born and confirmed to be free from cystic fibrosis and 3 terminations were carried out because of prenatal prediction of cystic fibrosis.

Abortion, Induced↗
PubMed1990

[Alpha fetoprotein concentration in the amniotic fluid in normal pregnancy and in pregnancy complicated by fetal anomaly].

The authors determined alpha-fetoprotein (AFP) concentration of amniotic fluid samples taken from 351 pregnancies in the 15-23. gestational weeks with the outcome of healthy infants with the use of radioimmunoassay. These values were compared to those of 255 pathological pregnancies, and the sensitivity and specificity of this diagnostic method based on amniotic fluid AFP assay were determined. It has been concluded that if the borderline value between normal and pathological cases is three times greater than median, the specificity of the method is 100%, its sensitivity is 98.5% in anencephaly (exencephaly), 75.0% in ADAM sequence, 70.4% in spina bifida and 55.5 in omphalocele (gastroschisis). Thus amniocentesis is advisable in cases where the risk of the above malformations is above the average and also when the possibility of the malformation cannot be excluded by non-invasive methods.

Amniocentesis↗
PubMed1990

[Prenatal diagnosis of cystic fibrosis by analysis of microvillar enzymes of the amniotic fluid].

Prenatal diagnosis was performed in 92 pregnancies high-risk for cystic fibrosis during six years. Amniotic fluid samples obtained by amniocentesis were examined with regard to their microvillar membrane enzyme activity. However, trehalase, alkaline phosphatase isoenzymes and L-gamma-glutamyl-transferase in the amniotic fluid are not specific markers of the cystic fibrosis, their activity is significantly lower than in normal pregnancies. By measuring the three enzymes simultaneously, sensitivity, specificity and reliability of the method were found to be over 92%. It is concluded that the mid-trimester amniotic fluid diagnosis is useful for some heterozygotic couples for cystic fibrosis even in the possession of the DNA methods.

Amniocentesis↗
PubMed1990

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

Chorionic Villi Sampling↗
PubMed1990

[Prenatal diagnosis of Hunter's disease].

The authors give a short report about the first-trimester prenatal detection of Hunter's disease (MPS II) inherited as X-linked disorder. There is written about a family having one affected child with Hunter's syndrome. Chorionic villus sample was taken at 10th weeks of gestation in the new pregnancy of the mother. The sex of the fetus was a male determined by DNA analysis. The activity of sulphoiduronate sulphatase was very low. The enzyme activity was also extremely low in the cultured cells from amniotic fluid taken at 16th weeks of gestation. On the basis of these results the pregnancy was terminated at parents's request. The diagnosis of Hunter's disease was confirmed by measuring the enzyme activity of the cultured fibroblasts from the male fetus.

Female↗
PubMed1990

[A computerized follow up system of obstetric and genetic care].

The authors have implemented and introduced a new filing system representing the complexity of obstetric, genetic and neonatal care for the three counties of the Eastern part of Hungary. Data about the pre-, peri- and postnatal management are supplied by the genetic/teratologic, obstetric, neonatal and pathological units and processed at the Department of Obstetrics and Gynaecology, University Medical School of Debrecen with an IBM compatible AT computer. This computerised registry is based on the personal identification number, so it is easy to handle for storing data about the course and outcome of a large number of pregnancies as well as the detection and follow-up of fetal malformations and genetic diseases. The computer register is suitable for easy and systematic storage of the more than 20 thousand pregnancies screened by both maternal serum AFP and ultrasound including nearly 500 prenatal diagnosis cases per year. When devising the system, the classic parameters of the "revised Tauffer statistics" have been taken into consideration, but the emphasis has been put mostly on the assessment of fetal/infantile health status and the prevention of malformations and genetic diseases. This computerised system greatly facilitates the correct assessment of statistical parameters in related medical fields and provides better possibilities for studying the cause and effect relationship between the efficacy of medical care and perinatal events.(ABSTRACT TRUNCATED AT 250 WORDS)

Birth Rate↗
PubMed1990

[In utero creation of a reno-amniotic shunt for the preservation of a hydronephrotic fetal kidney].

The authors wish to discuss the successful decompression treatment of a serious, fast progressing one-sided hydronephrotic fetal kidney (that also caused deformation of abdominal and thoracic organs) in a 29th week pregnancy. Under the guidance of ultrasonography they created a permanent link between the amniotic cavity in the uterus and the pelvis of the kidney. As a final solution a pyelo-ureteral anastomosis operation was performed on the newborn that was delivered on the 37th gestational week. The baby is 11 months old at the moment and both of her two kidneys are functioning perfectly.

Adult↗
PubMed1990

[Familial occurrence of bilateral renal agenesis].

The 58 cases of bilateral renal agenesis (Potter syndrome) registered in the Genetic Counselling of our institute in the last 12 years are reviewed. The only recurrent case which has been prenatally diagnosed is described in details. An urinary bladder anomaly like that of the subsequent child has not been reported in such a family previously. The authors analyze the possible inheritance patterns taking into account the previous references, too. They suggest the malformation is a genetically heterogeneous entity. They emphasize that nowadays the birth of a newborn with bilateral renal agenesis can be prevented in all cases.

Abnormalities, Multiple↗