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Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

394 records · Page 22Linked to original sources
PubMedDate not supplied

Risk of recurrence of craniospinal anomalies.

The authors analyzed 1,655 situations from their Genetic Counseling Service over a 15 year period where the reason for counseling was craniospinal anomaly (neural tube defects and/or hydrocephalus) in the family. Excluding the obviously monogenically inherited cases, they investigated pregnancies undertaken after 1,285 isolated and 177 multiple forms of craniospinal abnormalities. The recurrence rate of craniospinal defects was found to be 3.66%, which is about ten times higher than the general population risk, supporting the theory of the multifactorial threshold model in the inheritance of these anomalies. The recurrence risks of neural tube defects and of hydrocephalus were 3.47% and 2.95%, respectively. The authors concluded that recurrence risk is mainly influenced by the pathoanatomic severity of the involved anomaly, the degree of relationship, and the number of affected relatives in the family. There is a positive correlation between the pathoanatomic severity of the anomaly in the proband and the offspring. At least in one-half of the cases the same type of anomaly was observed again in the offspring as in the proband. Attention is drawn to the fact that hydrocephalus (ventriculomegaly) is often manifested only in the second half of gestation. Therefore, performing ultrasound examination is strongly recommended not only at the 18th but at the 24th week of gestation, as well in pregnancies with a positive history of neural tube defects and/or hydrocephalus.

Family Health↗
PubMedDate not supplied

Very-low-birthweight breech infants: short-term outcome by method of delivery.

The purpose of this study was to determine the incidence of mortality and morbidity of the very-low-birthweight infant (< 1,500 g) in breech presentation based on mode of delivery and birthweight. A retrospective chart review of 1,009 infants who were in breech presentation at the time of delivery between January 1, 1990 and December 31, 1995 at the First Department of Obstetrics and Gynecology of Semmelweis Medical School in Budapest, Hungary. Data collected included birthweight, mode of delivery, pregnancy complications and neonatal mortality and morbidity. Comparison of groups was made based on mode of delivery, and data were analyzed using Fisher's exact test and chi-square analysis. For those infants weighing less than 1,500 g at birth, vaginal delivery was associated with higher mortality than for those delivered abdominally (73.8% vs. 37.7%, P < 0.001). There was no significant difference in survival for those infants weighing 1,500 g or more. Regarding morbidity, in those infants weighing less than 1,500 g, vaginal delivery was associated with a higher incidence of 1 min Apgar below 4 (21.7% vs. 5.2%, P < 0.001), a higher incidence of 5-min Apgar scores below 4 (11.6% vs. 1.2%, P < 0.001), a higher incidence of grade III or grade IV IVH (18.8% vs. 3.5%, P < 0.001) and a higher incidence of necrotizing enterocolitis (5.8% vs. 0.6%, P < 0.05). There is an increased incidence of mortality and morbidity for the VLBW breech infant delivered vaginally. Cesarean delivery may improve outcome for these infants.

Breech Presentation↗
PubMedDate not supplied

Distribution of apolipoprotein(a) isoforms in normotensive and severe preeclamptic women.

OBJECTIVE: Preeclampsia is a pregnancy-related disorder constituting one of the primary causes of worldwide maternal and fetal mortality, but despite intensive research its pathogenesis remains unclear. Lipids have been implicated in the development of preeclampsia, although this possible association remains controversial and not yet fully investigated. This study set out to examine the potential association between lipoprotein(a) and the development of severe preeclampsia. The focus of this study was to investigate the potential utility of apolipoprotein(a) isoforms as possible diagnostic markers for identifying women at risk for developing preeclampsia. METHODS: Study participants included a control group of nonpregnant female volunteers (n = 59), a group of healthy pregnant (normotensive) female volunteers (n = 51), and a group of severe preeclamptic female volunteers (n = 59). Serum lipoprotein(a) concentrations were measured using double-antibody ELISA methods and were found to be 17.0+/-23.6 mg/dl among nonpregnant controls (n = 51), 15.9+/-15.8 mg/dl among healthy pregnant normotensives (n = 51), and 16.2+/-16.7 mg/dl in the preeclamptic group (n = 59). In addition, apolipoprotein (a) isoforms were identified using high-resolution SDS-agarose electrophoresis followed by immunoblotting. RESULTS: We detected no significant differences between the groups studied in the distribution of isoforms (Chi-square = 1.21, df = 4, P = 0.89); however, in a 1-week interval we detected a 42.2% rise in Lp(a) levels as well as a 67.1% rise in C-reactive protein concentrations among 10 volunteers in the preeclamptic group (median = 9.6; P < 0.05). CONCLUSIONS: Although the exact mechanism of pathogenesis continues to elude investigators, our results suggest that lipoprotein(a) may act as an acute-phase reactant during preeclampsia. Although our results are preliminary, they are consistent with growing evidence implicating lipids as among those factors involved in the etiology of preeclampsia. Changes in apolipoprotein(a) may be among those important biochemical markers that are found to be useful in the early identification of high-risk women and warrant further study.

Adult↗
PubMedDate not supplied

An operated case of Holt-Oram syndrome with autosomal dominant inheritance.

This report is concerned with a patient successfully operated for Holt-Oram syndrome. The disorder is inherited dominantly with complete penetrance and variable expressivity. It is pointed out that in cases of congenital heart disease familial cumulation must be borne in mind which can easily be verified by pedigree investigation. After demonstrating autosomal dominant inheritance, suitable inferences must be drawn for genetic counseling. Attention is drawn to the heart-surgical significance of the rhythm disorders so often associated with the syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Familial association of congenital left heart abnormalities and sustained fetal arrhythmia.

Hypoplastic left heart syndrome (HLHS) is the most common cause of death from heart disease in the first week of life. There are reports about familial concordance by presumed morphogenetic mechanisms of abnormal embryonic blood flow with phenotypes of varying severity. The risk of having a child with a left heart lesion after a previously affected child may be as high as 5% to 12%. We present case reports from four families in which sustained fetal arrhythmia (three ectopic atrial tachycardias and one severe bradycardia due to excessive ectopic atrial beats) was demonstrated. Within these four families a close relative of the mother (a previous child, a brother, or a nephew) had severe left heart abnormality (three with HLHS and one with severe aortic valve stenosis). The association of sustained fetal arrhythmia of ectopic atrial origin and severe left heart abnormalities could be expected to occur by chance in a very low percentage of cases. We conclude that sustained fetal atrial ectopic arrhythmia is a congenital abnormality and should be considered as a risk factor for inherited congenital heart abnormalities.

Adult↗
PubMedDate not supplied

Polysplenia and situs inversus in siblings. Case reports.

Heterotaxy syndromes, otherwise laterality defects, are variations from anatomic left-right asymmetry. Situs inversus is the complete reversal of the normal situs, still situs ambiguus is the randomisation of the normal organ position. Situs ambiguus may be manifested as asplenia or polysplenia syndrome. Normal situs and both types of the heterotaxy syndromes may appear among some affected families, whereas the different situs are rarely expressed in the same family. We describe an autosomal-recessive inherited familial heterotaxy syndrome with two affected siblings - one of whom has situs inversus, and the other with polysplenia syndrome. The polysplenia syndrome was diagnosed by fetal echocardiography. Since the chromosomal or molecular diagnosis of laterality defects are accessible only in X-linked heterotaxy syndromes, the fetal echocardiography is the earliest available diagnostic method in this field. Therefore, fetal echocardiography has great importance for affected families.

Fatal Outcome↗
PubMedDate not supplied

A rare case of non-immune hydrops fetalis: double-chambered right ventricle. A case report.

A double-chambered right ventricle was diagnosed prenatally by ultrasound examination in a case of fetal hydrops and polyhydramnios. Delivery was induced at the 28th week. 2D echocardiography of the newborn confirmed the intrauterine diagnosis. To our knowledge, this is the first reported case of prenatally diagnosed divided right ventricle, causing hydrops.

Adult↗
PubMedDate not supplied

Rare case of exomphalos complicated with umbilical cord teratoma in a fetus with trisomy 13.

An exomphalos containing unusual solid and cystic mass was diagnosed during a routine ultrasound examination in the 17th week of gestation. Further investigations were planned but the pregnancy was terminated. The fetopathological examination revealed an umbilical cord teratoma. Although this entity is very rare it should be emphasized as a possible differential diagnosis when cystic lesion of the cord is detected. Large teratomas associated with abdominal wall defect may have poor fetal outcome and can be associated with structural and chromosomal abnormalities. In our case trisomy 13 was diagnosed.

Chromosome Disorders↗
PubMedDate not supplied

Maternal age-dependent and sex-related changes of gestational serum alpha-fetoprotein.

Maternal serum alpha-fetoprotein (MSAFP) concentration values were measured in relation to maternal age and fetal sex in the 16th to 20th gestational weeks in samples taken from 9,556 pregnancies with the outcome of live, mature and healthy infants. Our results show positive significance between MSAFP concentration and maternal age (p < 0.001); we also found significantly higher AFP values in male fetuses than in female fetuses (p < 0.001). This specificity is by all probability due to the change in the physiologic AFP concentration of the pregnant woman. Considering maternal age and the new percentile AFP values, cut-off concentration values can be corrected, thus the quality of routine AFP screening can be improved. At the same time, with the application of the above parameters, a more effective selection of pregnancies at high risk for Down syndrome can be achieved.

Adolescent↗