PCR detection of Toxoplasma gondii in human fetal tissues.
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Animals↗
Biomedical subjects
Z Papp
Publications and source records attributed to Z Papp.
Fetal RhD genotyping by analysis of maternal blood. A case report.
BACKGROUND: Prenatal determination of fetal rhesus D (RhD) status is desirable in pregnancies in sensitized, RhD-negative women to prevent hydropic degeneration of the fetus. Recently, a polymerase chain reaction (PCR) test on amniocytes or chorionic villi has been in use to demonstrate the RhD status of the fetus in sensitized pregnancies. A more advisable, noninvasive approach is to determine the fetal RhD group from fetal cells circulating in maternal blood. CASE: We report on a prenatal diagnosis where RhD-positive cells could be detected from peripheral blood of a sensitized, RhD-negative mother. The presence of an RhD-positive fetus was confirmed by subsequent amplification of fetal DNA obtained by chorionic villus biopsy. CONCLUSION: In sensitized pregnancies, the number of fetal cells in maternal blood seems to be high enough to be detected by PCR in every case.
Adult↗
Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction.
Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.
Amniocentesis↗
Fetal hydropericardium associated with left ventricular diverticulum.
Fetal pericardial effusion usually develops because of fetal heart failure, infections, chromosomal abnormalities, fetal anaemia, intracardiac or extracardiac tumours. There is only one case in the literature of isolated hydropericardium associated with left ventricular diverticulum and here we report another.
Abortion, Induced↗
Ventriculomegaly with radial and renal defects: prenatal diagnosis in two consecutive sibs.
We describe two consecutive mid-trimester fetuses of different sexes with identical anomalies of the upper limbs and the kidneys in association with severe ventriculomegaly. We compare this apparently autosomal recessive syndrome to VACTERL-H association, Fanconi anemia, and two other, so far unparalleled syndromes. Taking into account the absence of chromosome breaks, the associated changes of the amniotic fluid, and the renal histology, we conclude that we are dealing with a different entity.
Adult↗
[Complex screening of family members at risk for familial adenomatous polyposis].
151 members of 10 affected families with FAP have been registered at the authors' regional polyposis registry, among them 51 FAP patients were verified histologically. The disorder is autosomal dominant thus the chance for the inheritance of the mutated allele is fifty percent in the offspring of an affected patient. Because of the high risk the registration and regular control of family members is recommended. They can be divided into high risk and low risk group based on presymptomatic tests. The examination of retina pigmentepithel was the only possibility for presymptomatic diagnosis earlier. After localization and identification of APC gene responsible for the disease molecular genetic methods have been introduced for presymptomatic diagnosis. The authors performed presymptomatic tests based on ophthalmologic and molecular genetic methods among family members at risk. Ophthalmologic examination was done in 53 while molecular genetic investigation in 54 cases. All the results of endoscopic, ophthalmological and molecular genetic examinations were available in 35 persons, among them 19 FAP have been found. Ophthalmological examination were informative in 33 out 35 cases (unequivocal positive or negative) while results of molecular genetic methods and sigmoidoscopy were correlated in every case. Authors stress the significance of complex screening of affected families with FAP in the prevention of colorectal cancer and extracolonic malignant processes.
Adenomatous Polyposis Coli↗
[Management of hemodynamically significant fetal arrhythmias].
Between January 1, 1993, and April 30, 1996, authors treated 23 fetuses with severe rhythm disturbances in their Department. The correct diagnosis was made by fetal echocardiography. They had 15 tachyarrhythmic and 8 bradyarrhythmic patients. They found hydrops fetus at 7 patients because of atrial flutter (2 fetuses), supraventricular tachycardia (4 fetuses) and severe bradycardia (1 fetus). They treated successfully 13 patients with antiarrhythmic therapy given to the mother. They had 1 intrauterine death (treated because of bradycardia) and 1 neonatal death (hydropic because of supraventricular tachycardia). The causes of severe bradycardia were maternal antibody (3 fetuses), cardiac malformation (3 fetuses) and large number of blocked atrial extrasystoles. The prognosis of fetal tachycardia is good even in cases of fetal hydrops. The prognosis of bradycardia due to heart abnormalities is poor.
Anti-Arrhythmia Agents↗
Questions and problems in direct predictive testing for Huntington's disease.
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Genetic Carrier Screening↗
Detection of CAG repeats using silver staining in patients with Huntington disease in Hungary.
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Humans↗
[The effect of the delivery method on the mortality of very low birth weight infants in case of breech presentation].
The authors have investigated the data of 1009 neonates born from breech presentation in the I. Department of Obstetrics and Gynecology of Semmelweis Medical School between January 1., 1990 and December 31., 1995. The frequency of caesarean section in this group was 75.5%. In the subgroup of very small neonates (those under the birthweight of 1500 grams) caesarean section was performed in 71.4%. In this group 73.8% of the neonates were alive on the 28th postpartum day, as opposed to 37.7% in the group spontaneously delivered. The difference proved to be significant in the group weighing between 750 and 1249 grams. Intraventricular haemorrhage was also more frequent in the group spontaneously delivered. The difference was not significant in the groups under 750 grams and between 1250 and 1500 grams birthweight. Based on their investigation the authors conclude, that in the group of fetuses whose estimated birthweight is predicted to be between 750 and 1250 grams by ultrasound examination, perinatal mortality and morbidity rates in breech presentation can be improved by performing caesarean section.
Breech Presentation↗
[Assessment of myometrial invasion in endometrial cancer by transvaginal ultrasonography].
Transvaginal ultrasound was used in 52 women to characterise endometrial cancer with respect to myometrial invasion according to International Federation of Gynaecologist and Obstetricians (FIGO) recommendations for surgical staging of endometrial cancer. Endometrial cancer was diagnosed on the basis of dilatation and curettage and the degree of invasion was evaluated preoperatively by transvaginal ultrasound. The ultrasound data were compared to macroscopic finding of the uterine specimen and to histopathology. Evaluation with transvaginal sonography was accurate in 46 of 52 cases (accuracy 88%, sensitivity 86%, specificity 90%, positive predictive value 92%, negative predictive value 83%). Cervical tumor extension was correctly diagnosed in seven of ten women in which it was present. Transvaginal ultrasound seems to be a reliable method for assessing tumor invasion. This non-invasive method could be included as an important tool in te establishment of individualised treatment program in case of women with endometrial cancer.
Aged↗
[Prenatal determination of fetal RhD-positivity from the blood of the RhD-negative mother].
It is reported on a prenatal determination of fetal RhD blood group from blood of a sensitized RhD-positive mother at 11th week gestation. The result was confirmed by a subsequent amplification of fetal DNA obtained by chorionic villus biopsy. It is supposed that in sensitized pregnancies the high number of fetal RhD-positive red blood cells in maternal blood is enough to be detectable by polymerase chain reaction.
Abortion, Induced↗
[Prenatal diagnosis of hemophilia B].
The authors are reporting on the prenatal diagnosis of the X-linked haemophilia B for the first time in Hungary applying the polymerase chain reaction. DNA sequence containing a HhaI restriction endonuclease site close to the factor IX gene was amplified using polymerase chain reaction. The products from polymerase chain reaction were detected on polyacrylamide gel with ethidium bromide staining after the digestion with HhaI restriction enzyme. In the first step of the diagnosis DNA specimen was prepared from chorion derived from a 11th week gestation of haemophilia B carrier mother. The investigation of fetal DNA proved a male fetus. The detection of HhaI polymorphism of the fetus demonstrated the inheritance of the disease causing allele. The parents asked for the termination of pregnancy based on the result.
Abortion, Induced↗
[Current status of the management of patients with malignant ovarian cancer in Hungary].
The authors analyzed data of patients suffering from ovarian cancer in a one year period (1.1.1994-31. 12.1994) in Hungary. Data of 584 patients of 95 gynecological wards were found to be appropriate for detailed evaluation. With respect to the latest international classification staging of the disease was controlled in every case by histological results and all available clinical data. Data were analyzed with special emphasis on the type of medical department involved, and the implied methods and diagnostic procedures in the establishment of diagnosis of ovarian cancer. Comparison was made of age and stage distribution of cervical, endometrial and ovarian cancer cases in Hungary. Therapeutic approaches of ovarian cancer are discussed, as well as the operative procedures, with special emphasis of the size of residual tumor, and different types of cytostatic chemotherapy. Actual situation of treatment is evaluated, taking into account the possibilities of operative and pharmacological interventions. The authors propose the proper staging and grading establishment of ovarian cancer cases with respect to the international recommendations and protocols in order to achieve a high level of treatment.
Antineoplastic Combined Chemotherapy Protocols↗
Congenital diaphragmatic hernia: can prenatal ultrasonography predict outcome?
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Female↗
Kinetics of contractile activation in voltage clamped frog skeletal muscle fibers.
Excitation-contraction coupling events leading to the onset of contraction were studied in single skeletal frog muscle fibers. This entailed the simultaneous measurement of the changes in intracellular calcium concentration using antipyrylazo III and fura-2, isometric force, and clamp voltage in a modified single vaseline gap chamber for the first time. The calcium transients were incorporated into an analysis of calcium binding to regulatory sites of troponin C (TnC) that permitted both a linear and a cooperative interaction. The analysis assumed that the onset of mechanical activation corresponds with a particular TnC saturation with calcium setting constraints for the calcium binding parameters of the regulatory sites. Using a simple model that successfully reproduced both the time course and the relative amplitudes of the measured isometric force transients over a wide membrane potential range, k(off) of TnC was calculated to be 78 s(-1) for the cooperative model at 10 degrees C. Together with the above constraints this gave a dissociation constant of 8.8 +/- 2.5 microM and a relative TnC saturation at the threshold (Sth) that would cause just detectable movement of 0.17 +/- 0.03 (n = 13; mean +/- SE). The predictions were found to be independent of the history of calcium binding to the regulatory sites. The observed delay between reaching Sth and the onset of fiber movement (8.7 +/- 1.0 ms; mean +/- SE, n = 37; from seven fibers) was independent of the membrane potential giving an upper estimate for the delay in myofilament activation. We thus emerge with quantitative values for the calcium binding to the regulatory sites on TnC under maintained structural conditions close to those in vivo.
Actomyosin↗
Ivemark syndrome with asplenia in siblings.
We describe two siblings with Ivemark syndrome. In both cases, absent spleen, symmetric liver, and lungs with three lobes were associated with complex cardiac malformation. The syndrome was diagnosed prenatally in the second case by fetal echocardiography at the twentieth week of pregnancy. The autosomal recessive mode of inheritance of Ivemark syndrome is further supported by these cases.
Abnormalities, Multiple↗
Multifocal hemangioendothelioma of the fetus and placenta.
A case of multifocal hemangioendothelioma of the liver, adrenal gland, and placenta is reported. The histological appearance of the tumor is consistent with an infantile hemangioendothelioma, type 2. Multifocal development is the most obvious explanation for the disease but the possibility that this represents malignant placental neoplasm with metastases requires consideration.
Adrenal Gland Neoplasms↗