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Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

At least 91 records · Page 5Linked to original sources

[Severe left heart developmental disorder and severe fetal arrhythmia in the same family--a coincidental association?].

The etiology, pathogenesis and risk for inheritance of congenital heart abnormalities are important questions. The development of fetal echocardiography and fetopathology helped in examination of this problem. Between September 1992 and June 1997 there were found four families where one member of the family had hypoplastic left heart syndrome and other member sustained fetal arrhythmia. The familiarity of hypoplastic left heart syndrome and some special forms of arrhythmias are well known. The reported familial association of these two abnormalities which in the first in the literature, may have a possibility that a sustained ectopic atrial arrhythmias are as severe risk factors for left heart abnormalities as other left heart abnormalities are.

Adult↗

[Incidence and mortality of extrauterine pregnancy in Hungary (1931-1995)].

The authors report on the changing incidence of and maternal mortality from ectopic pregnancies in Hungary between 1931 and 1995. Data of reported pregnancies were obtained from the National Institute of Statistics and the Hungarian College of Obstetricians and Gynecologists. Incidence of ectopic pregnancy was calculated as rates per 1000 live births and per 1000 reported pregnancies including live births, legally induced abortions, miscarriages, and ectopic pregnancies. Ectopic pregnancy-associated maternal mortality was examined in terms of case fatality rate and also as a proportion to the total number of pregnancy-associated maternal deaths. From 1931, when national surveillance for pregnancy begun in Hungary, to 1995, the rate per 1000 reported live births tripled from 3.4 to 11.9. Similarly, the rate of ectopic pregnancies per 1000 reported pregnancies increased by 190% from 3.7 to 6.4. In the last decade of the period studied, its proportion in the annual number of fetal deaths increased to 8.0%. Ectopic pregnancy-associated maternal deaths decreased sharply from 1931 through the late 1980's. In the last decade, its average value was 16 per 10.000 reported ectopic pregnancies. However, case fatality rate of ectopic pregnancy is still highest compared to any of the other obstetric events including induced and spontaneous abortions, and deliveries. Over the last decade, maternal deaths resulting from ectopic gestation represented 8.7% of the total maternal mortality rate. Given the increasing incidence of ectopic pregnancy together with a substantial proportion in pregnancy-related maternal mortality, study of etiology, and appropriate preventive measures are urgently needed.

Epidemiologic Methods↗

[Fetal myocardial calcification (report of 4 cases and review of the literature].

(Report of four cases and review of the literature) Calcification of the myocardium is a rare condition. The cause may be dystrophic or metastatic. An autosomal recessive inherited idiopathic arterial calcification of infancy is more rare abnormality. A dystrophic calcification is the more common of the three and may occur in areas of necrosis, hemorrhage, or fibrosis of the myocardium. Metastatic calcification is associated with hyperparathyroidism, D hypervitaminosis or renal failure, usually accompanied by the deposit of calcium in other organs, particularly the lungs, stomach, kidneys, spleen and liver. Authors report four cases of myocardial calcification diagnosed in intrauterine life. They give a review of literature of fetal and neonatal myocardial calcification.

Adult↗

[Prenatal diagnosis of atrioventricular septal defect and its prognostic significance].

Atrioventricular septal defect also known as endocardial cushion defect is severe congenital heart disease which is often associated with chromosomal abnormalities (30-50%) or is a part of a malformation syndrome (30%). Between 1, october 1992, and 30, september 1996. 21 cases were diagnosed prenatally. The chromosomal analysis found in 1 case trisomy 18, in 1 case trisomy 22 and in 7 cases trisomy 21. In 7 cases atrioventricular septal defect was part of Ivemark syndrome, none of them had chromosomal abnormality, except 1, who had trisomy 18. Out of 21 cases there was only one survivor. None of cases associated with Ivemark syndrome survived. In 4 cases sibs or parents had congenital heart disease. Four mother were above 40 years. The report summarises the most important abnormalities in the prenatal diagnosis of endocardial cushion defect and echocardiographic and embryopathologic foundings.

Echocardiography↗

Calcification of the fetal heart--four case reports and a literature review.

Calcification of the heart and vessels in fetuses is a rare condition. It may be dystrophic or metastatic. An extremely rare form of vascular calcification has been termed 'idiopathic arterial calcification of infancy', which is inherited in an autosomal recessive pattern. We report four cases of myocardial calcifications of different origin diagnosed in utero. The correct diagnosis is very important in regard to genetic counselling.

Adult↗

Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis.

PURPOSE AND METHODS: Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. This requires lengthy laboratory procedures and high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid and inexpensive and may potentially be suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction (F-PCR) using polymorphic small tandem repeats (STRs). RESULTS: In this paper we present data demonstrating that fluorescent PCR amplification of STRs can be used for rapid diagnosis of trisomy 21, trisomy 18, and trisomy 13 and can be successfully applied to both prenatal diagnosis and diagnosis of single cells. This study also reports significant numbers of prenatal diagnoses using quantitative fluorescent PCR. CONCLUSIONS: We believe that further studies of greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for trisomy diagnosis from single cells using multiple STR markers for either preimplantation genetic diagnosis or, potentially, diagnosis from fetal cells isolated from maternal blood.

Chromosomes, Human↗

Intracellular calcium and electrical restitution in mammalian cardiac cells.

The role of calcium current and changes in intracellular calcium concentration ([Ca2+]i) in regulation of action potential duration (APD) during electrical restitution process was studied in mammalian ventricular preparations. Properly timed action potentials were recorded from multicellular preparations and isolated cardiomyocytes using conventional microelectrodes and EGTA-containing patch pipettes. APD increased monotonically in canine and guinea pig ventricular preparations with increasing diastolic interval (DI), while in rabbit papillary muscles the restitution process was biphasic: APD first lengthened, then shortened as the DI increased. When the restitution process was studied in single cardiomyocytes using EGTA-containing patch pipettes, the restitution pattern was similar in the three species studied. Similarly, no difference was observed in the recovery time constant of calcium current (/Ca-L) measured under these conditions in voltage clamped myocytes. Loading the myocytes with the [Ca2+]i-chelator BAPTA-AM had adverse effects in rabbit and canine cells. In rabbit myocytes steady-state APD lengthened and the late shortening component of restitution was abolished in BAPTA-loaded cells. In canine myocytes BAPTA-load shortened steady-state APD markedly, and during restitution, APD decreased with increasing DI. The late shortening component of restitution, observed in untreated rabbit preparations, was greatly reduced after nifedipine treatment, but remained preserved in the presence of 4-aminopyridine or nicorandil. Beat to beat changes in APD, peak/Ca-L and [Ca2+]i, measured using the fluorescent dye, Fura-2, were monitored in rabbit ventricular myocytes after a 1-min period of rest. In these cells, the shortening of APD was accompanied by a gradual reduction of the peak/Ca-L and elevation of diastolic [Ca2+]i during the initial eight post-rest action potentials. It is concluded that elevation of [Ca2+]i shortens, while reduction of [Ca2+]i lengthens APD in rabbit, but not in canine ventricular myocytes. These differences may probably be related to different distributions of [Ca2+]i-dependent ion currents and/or to differences in calcium handling between the two species.

Action Potentials↗

Induction of immunity in the respiratory tract and protection from bovine herpesvirus type 1 infection by different routes of immunization with recombinant adenovirus.

To investigate the capability of different routes of immunization with replication-competent recombinant adenovirus to induce antigen-specific antibody responses, we immunized cotton rats with a human adenovirus type 5 (HAd5) vector expressing the glycoprotein D (gD) of bovine herpesvirus type 1 (BHV-1) (gD-dE3). Different routes of mucosal and systemic immunization (intraduodenal-oral, intraduodenal, intranasal and intradermal) with gD-dE3 stimulated similar levels of gD-specific IgG in the serum of cotton rats. However, intranasal (i.n.) immunization stimulated higher levels of gD-specific IgA in the lung and nasal washes, and higher frequency of gD-specific antibody secreting cells in the lung than did the intradermal immunization. Higher levels of antibody in the respiratory tract following i.n. immunization correlated with better protection of the lungs against i.n. BHV-1 challenge. Intraduodenal-oral immunization induced more gD-specific antibodies in the respiratory tract than intraduodenal immunization alone. Adenovirus dissemination to most organs tested was evident following each route of immunization, which is important to consider when studying the mechanism of induction of immunity by recombinant adenoviruses.

Adenoviruses, Human↗

Serological responses of patients with ectopic pregnancy to epitopes of the Chlamydia trachomatis 60 kDa heat shock protein.

Clinical and histopathological correlations of immunoreactivity to Chlamydia trachomatis and to epitopes of the C. trachomatis 60 kDa heat shock protein (hsp60) among women with ectopic pregnancy were evaluated in a case-control study. Serological responses to 13 synthetic peptides corresponding to major epitopes of the chlamydial hsp60 were determined in 67 women treated for ectopic pregnancy and 45 women with uncomplicated pregnancy in utero. Plasma cell salpingitis was detected in 29 (43.3%) of the ectopic patients. Its presence correlated with antibodies to two hsp60 epitopes, encompassing amino acids 260-271 and 411-422 (P = 0.02). Antibodies to these two epitopes, along with five other epitopes, also correlated with peritubal adhesion formation in ectopic pregnant patients (P < 0.01). Antibodies to epitopes 260-271 and 188-199 also correlated with a history of pelvic inflammatory disease (PID; P = 0.05). Patients with ectopic pregnancy were also more likely than their intrauterine pregnant controls to have present anti-chlamydial immunoglobulin G (P < 0.005). Women positive for both C. trachomatis and hsp60 epitope antibodies had an increased prevalence over controls of salpingitis, pelvic adhesions or history of PID (P < 0.05). In contrast, patients who were positive for only C. trachomatis antibodies or only hsp60 epitope antibodies did not differ from antibody-negative patients in each of these categories.

Adult↗

Estimate of the annual per capita surplus dose due to the elevated indoor exposure to 222Rn progeny caused by the use of slag and spoil of uranium rich coal for building purposes in Ajka Town, Hungary.

Ajka is a mining and industrial town in Hungary. Brown coal rich in uranium (300 to 900 Bq kg(-1)) has been mined by the town since 1865. Slag and spoil of the coal were frequently used in the town for building purposes before 1960. Screening measurements of 222Rn progeny in indoor air were performed in 86 Ajka buildings. Elevated 222Rn progeny levels were found in houses that used the above by-products as building materials or foundations. Annual per capita surplus effective doses due to the exposure to elevated 222Rn progeny levels were estimated from the results of the screening measurements. The possibility of estimating the mean of the annual averages of 222Rn or 222Rn progeny concentration for a group of houses from the results of screening measurements is discussed in detail. The estimated annual surplus dose is 0.64 mSv for the population of the whole town and 1.86 mSv for the 7,000 occupants of family houses built before 1960.

Air Pollutants, Radioactive↗

Low-dose spiral computed tomography of the thorax: comparison with the standard-dose technique.

RATIONALE AND OBJECTIVES: This study was conducted to determine whether significant reduction in radiation dose (250 mAs-->50 mAs), in chest computed tomography (CT) using volume acquisition affects image quality or the detectability of pathologic findings in the lung and mediastinum. METHODS: Phantom studies were conducted to evaluate resolution and noise level, then a patient study was then done. Fifty consecutive patients (10 normal and 40 abnormal) cases were examined. After a scan (250 mAs, 120OkVp) of the entire thorax, five additional slices (50 mAs, 120kVp) at the level of the abnormality were obtained. Three independent observers evaluated the visibility of normal lung and mediastinal structures, as well as image noise. The mean score was compared between the standard and low doses. In a second study, an independent evaluation of the presence or absence of pathologic findings was made by four observers. RESULTS: Lucite phantom studies demonstrated diminished low-contrast resolution and increased noise level for the low-dose technique. Observers assessed more noise in the low-dose images (P < 0.001). The normal structures were judged to be more visible with standard dose (P < 0.01), but the magnitude of the judged differences was small especially in the lung. No differences were found in the detection of lung and mediastinal abnormalities (P > 0.10). CONCLUSIONS: The low-dose technique was effective in demonstrating pathologic findings for the lung and mediastinum. Low-dose spiral CT should be considered as a viable alternative to standard-dose spiral CT.

Adult↗

Detection of factor V Leiden mutation in severe pre-eclamptic Hungarian women.

Pre-eclampsia is a pregnancy-related disorder that complicates approximately 5% of all pregnancies and is cited as the primary cause of worldwide maternal and fetal mortality. The factor V Leiden mutation has been implicated in the development of severe pre-eclampsia. In order to investigate this association, a sample of 198 Hungarian women was recruited and enrolled in one of the three groups based on reproductive and health status: those as classified as pregnant and healthy (n = 71), those diagnosed as pregnant and severe pre-eclamptic (n = 69), and those found to be healthy and non-pregnant (n = 58). The presence of factor V Leiden mutation was determined by using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analysis (RFLP). We identified three (5.2%) heterozygous among healthy non-pregnant participants, five (7.0%) heterozygous among healthy pregnant participants and 13 (18.8%) heterozygous among pre-eclamptic women (p < 0.05, 95% CI). Our result supports the previous observation that carriers of factor V Leiden mutation are at increased risk for developing severe pre-eclampsia.

Adolescent↗

Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports.

Trisomy 18 is the second most common genetic defect after trisomy 21, almost 90% of which are due to additional chromosome from the mother. The parental origin of the additional chromosome can, if required, be determined by two methods: karyotyping, which takes several weeks; or, more recently, by polymerase chain reaction (PCR) which is often problematic. Fluorescent PCR of small tandem repeats (STRs) can determine the parental origin in the majority of cases within 5 h. Although the incidence of paternal origin is known for both trisomy 21 and trisomy 18, this technique can rapidly determine the parental origin in cases where there is insufficient samples to perform conventional tests. Determining parental origin by these methods may also have clinical significance in the diagnosis of chromosomal translocations or in the diagnosis of genetic disease using linkage analysis.

Chromosomes, Human, Pair 18↗

Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card.

Pearson syndrome is a multisystem juvenile condition associated with deletions in the mitochondrial genome. The most common 4977 bp deletion of mitochondrial DNA (mtDNA) can mainly be detected in the patients' peripheral blood. Here we report a child with a clinically unclarified diagnosis where molecular genetic results proved Pearson syndrome from stored dried blood sample 6 months after the patient's death. PCR amplification around the breakpoint of the most common mtDNA deletion could detect the presence of mutated mtDNA. Another polymerase chain reaction (PCR) assay indicated the low level of wild type mtDNA in patients' blood. We believe that this case shows the importance of storing Guthrie card and the availability of detection of Pearson syndrome from dried blood sample.

Anemia, Sideroblastic↗

Calcium-activated transient membrane currents are carried mainly by chloride ions in isolated atrial, ventricular and Purkinje cells of rabbit heart.

Under physiological conditions, calcium-dependent ([Ca2+]i-dependent) Cl- currents (ICl(Ca)) have been suggested to participate in the repolarizing processes. In this paper, the possible contribution of ICl(Ca) to transient inward currents and, hence to arrhythmias, has been studied in myocytes from the working myocardium and from the conductive system. Single atrial, ventricular and Purkinje cells, isolated enzymatically from rabbit heart, have been studied under whole-cell voltage-clamp and were internally perfused with the fluorescent Ca2+ indicator, fura-2 (100 microM). Ca2+ release from the sarcoplasmic reticulum was either induced by external application of caffeine or occurred spontaneously in Ca(2+)-overloaded cells. Membrane currents accompanying Ca2+ transients showed linear current-voltage characteristics between -60 and +80 mV as evidenced from fast voltage ramps. When intra- and extracellular Cl- concentrations were kept symmetrical in the absence of the Na(+)-Ca2+ exchange mechanism, transient currents had a reversal potential close to 0 mV. Reduction of external Cl- concentration shifted this reversal potential towards the new Cl- equilibrium potential. Neither the time course of the transient currents nor the shift in their reversal potentials was significantly affected by the presence of Na+. Approximately 90% of this current was blocked by the application of the Cl- channel blocker, anthracene-9-carboxylic acid (0.5 mM) at +80 mV. It is concluded, that [Ca2+]i-activated transient membrane currents in atrial, ventricular and Purkinje cells of rabbit heart are mainly due to the activation of a [Ca2+]i-dependent Cl- current.

Animals↗

Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction.

Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.

Amniocentesis↗

Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR.

The major reason for prenatal diagnosis lies in the detection of trisomies, particularly trisomy 21 (Down's syndrome). Current techniques require lengthy laboratory procedures and high costs. Furthermore, diagnosis is often not possible if the sample is of small size or is contaminated. An alternative method, quantitative fluorescent polymerase chain reaction (PCR) of short tandem repeats (STRs), can also be used to diagnose trisomies and it has the advantage that a result is obtained within five to eight hours. However, this method is currently limited to relatively large amounts of sample, which restricts diagnostic confidence and value. Recently, genetic diagnosis using fluorescent PCR has been applied at the single cell level but is limited to sex or single gene defect diagnosis. This study, using quantitative multiplex fluorescent PCR, provides for the first time simultaneous diagnosis and confirmation of sex and trisomy in single cells. Two markers for chromosome 21 increase diagnostic confidence, informativeness, and confirmation. This system is rapid (five hours), reliable, and accurate and we believe that it will be more cost effective than alternative methods. The technique has direct application to preimplantation genetic diagnosis, early prenatal diagnosis, and other diagnostic systems where sample size is limited.

Down Syndrome↗