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Biomedical subjects

E Beinder

Publications and source records attributed to E Beinder.

At least 37 records · Page 2Linked to original sources

[Discrepant outcome of intrauterine listeria infection in dichorionic twins].

UNLABELLED: BACKGROUND AND CASE REPORT: We report on a case of fetal Listeriosis in a dichorionic twin pregnancy where both placentae, but only one of the twins were infected. While the firstborn child showed no infection and remained healthy until today, the other newborn had all clinical signs of granulomatosis infantiseptica and died despite of immediate resuscitation immediately after delivery. CONCLUSIONS: This discrepant course with Listeriosis in twins underlines, that fetal factors influence the clinical outcome in placental Listeriosis. The reasons for the infection of only one twin and the avoidance of the other twin remain unclarified. We speculate that immunologic mechanisms or the presence of meconium-stained amniotic fluid may play an important role for intrauterine infection with Listeriosis.

Asphyxia Neonatorum↗

[Prenatal recording of fetal heart action with magnetocardiography].

Fetal magnetocardiography (fMCG) registers the magnetic field generated by the fetal heart. In contrast to the fetal electrocardiogram, fECG permits non-invasive registration of fetal heart activity and documentation of all parts of the PQRST-wave-forms from the second trimenon onwards. This facilitates the determination of cardiac time intervals and establishment of reference values for different stages of pregnancy. We examined 53 women in 104 recordings from the 10th week of gestation onwards (1 to 10 recordings per individual). The fMCG (37 magnetic channels, sampling rate 1024 Hz, bandwidth 1-200 Hz) was recorded non-invasively over the mother's abdomen in a magnetically shielded room. Registration of fetal heart beats was generally successful from the 20/21th week of gestation onwards. In a few cases, fetal heart beats could be registered as early as in the 16th week. Cardiac time intervals and amplitudes of fMCG increased concordantly with fetal growth. Mean P wave duration increased from 31 to 49 ms (p < 0.05), PQ interval from 95 to 107 ms (n.s.) and QRS duration from 36 to 52 ms (p < 0.01). The mean amplitudes of the P and R waves also increased. FMCG, furthermore permits a prenatal diagnosis of fetal cardiac arrhythmias. We recorded fetal arrhythmias in 20 cases (26-38th week), including episodes of ventricular and supraventricular arrhythmias or atrioventricular blockings. Due to its high resolution, fMCG offers new information on the development of fetal cardiac activity which cannot be achieved by conventional methods like cardiotocography or dopplerultrasound. Therefore, fMCG could become a new diagnostic instrument for monitoring fetal wellbeing during pregnancy.

Adult↗

Whole blood clot lysis in newborns and adults after adding different concentrations of recombinant tissue plasminogen activator (Rt-PA).

Optimal treatment of newborns with thromboembolic complications likely differs from that for adults because of ontogenetic features of both coagulation and fibrinolysis that affect the thrombotic processes and the response to thrombolytic agents. Although there are data on plasma clot lysis in newborns, the potential for dissolution of whole blood clots has not been explored. We investigated whether there is a difference between newborns and adults in sensitivity of whole blood clots to lysis with recombinant tissue plasminogen activator (rt-PA). Blood was obtained from 15 newborns and from 13 adults and anticoagulated with sodium citrate. Whole blood clots were generated by addition of thrombin and calcium. After 3 hours of retraction the clots were put into tubes containing 1.45 mL plasma of the same patient. After 1 hour of incubation, rt-PA was added to result in final concentrations of 3, 1, 0.3, 0.1, and 0 microg/mL. Clots were weighed after 0.5, 1, 2, and 3 hours. At any time point measured, whole blood clot lysis was more efficient in newborns than it was in adults. This was true for spontaneous clot lysis (p <0.05 at 1, 2, and 3 hours) as well as for all concentrations of rt-PA tested (p <0.05 at 1 hour). Whole blood clot lysis in new-borns was most efficient at 1 microg/mL rt-PA, whereas adults showed best lysis at the highest concentration tested (3 microg/mL rt-PA). The rate of plasminogen consumption was similar in newborns and adults. Recommendations for antithrombotic therapy in new-borns have been loosely extrapolated from recommendations for adults. Our data can be helpful in establishing guidelines for thrombolytic therapy in the neonatal period. Retracted whole blood clots mimic better the in vivo situation than previously reported in studies of lysis of nonretracted plasma clots. Based on our data, we think that despite low levels and slower activation kinetics of fetal plasminogen, the dosage of rt-PA should be lower in newborns than in adults.

Adult↗

Prognosis of children born to mothers with HELLP-syndrome.

In literature there have been differences in the assessment of the outcome of children born to mothers with HELLP syndrome. In a retrospective study we investigated six annual groups (1989-1994) at the Perinatal Center in Erlangen (11,235 births, 68 children of mothers with HELLP syndrome), 53 children were treated in our neonatal intensive care unit (NICU). The control group (n = 219) consisted of a complete age group in our NICU. The gestational age (mean 33 weeks, p < 0.003) and the birth weight (mean 1671 g, p < 0.001) were significantly lower in the HELLP group. No significant differences were detected with respect to the frequency of leucocytopenia (p = 0.518) and thrombocytopenia (p = 0.215). Despite a relatively high rate (37.7%) of RDS there was only a significant tendency to the disadvantage of HELLP children (p = 0.075). There was no difference in frequency of intracranial hemorrhage (ICH) (p = 0.566). Infections were diagnosed less frequently in HELLP children (p = 0.042). Mortality in the control group was higher only as a tendency (p = 0.07). The follow-up examinations of the neurological development covered 31 of the 53 treated children. After 6-72 months (median 24 months), 90.3% of these children showed normal development or only minor disabilities. The prognosis of children of mothers with HELLP syndrome is not as bad as has been assumed so far.

Female↗

Recent insights into the roles of nitric oxide and renin-angiotensin in the pathophysiology of preeclamptic pregnancy.

Normal pregnancy involves marked maternal hemodynamic adaptations; these are suppressed in preeclampsia, leading to serious complications for mother and baby. The cause of preeclampsia is unknown, but may involve primary pathology at the maternal/fetal interface. However, the systemic manifestations of the disease are associated with widespread maternal vascular endothelial damage and dysfunction. There has been considerable recent interest in the possible roles for nitric oxide (NO) deficiency and for alterations in the renin angiotensin system (RAS) in the pathophysiology of preeclampsia. The following is an overview of the hemodynamic responses to normal pregnancy, an evaluation of the possible roles of NO and the RAS in these adaptations, and a review of the important aspects of these systems in preeclampsia.

Female↗

Interstitial deletion del(3)(p12p21) in a malformed child subsequent to paternal paracentric insertion (or intraarm shift) 46,XY, ins(3)(p24.1p12.1p21.31).

We report on a malformed stillborn with deletion 3p subsequent to direct paracentric insertion (intraarm shift) in the normal father which had been first mistaken for paracentric inversion. The corrected diagnosis was supported by FISH of mapped markers on metaphase chromosomes. In addition we looked for recombinants in sperm. This observation reminds similar cases that had been considered exceptions to the expected meiotic recombination of paracentric inversions and points to a cytogenetic pitfall. Published deletions and paracentric inversions in 3p are briefly quoted.

Abnormalities, Multiple↗

True fetal mosaicism of an isochromosome of the long arm of a chromosome 20: the dilemma persists.

We report the prenatal findings of mos 46,XY/46,XY,i(20q) after amniocentesis. The propositus presented with two epidermal scalp scars, retrobulbar orbital cysts, and dyssegmentation of the thoracic spine. The abnormal cell line was discovered in cells cultured from the proximal umbilical cord and--by fluorescence in situ hybridization (FISH)--in interphase nuclei from buccal epithelium and urinary sediment but not from the placenta, lymphocytes, or skin fibroblasts.

Adult↗

Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus.

Congenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures usually cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congenital intracerebral teratoma is generally very poor.

Brain Neoplasms↗

Prenatal findings in patients with prolonged QT interval in the neonatal period.

OBJECTIVE: To describe prenatal abnormalities of cardiac rhythm in patients with prolonged QT interval in the neonatal period. DESIGN: A retrospective analysis of the results of fetal echocardiography and the outcome in patients with prolonged QT interval in the neonatal period who had been referred for prenatal evaluation. SETTING: Two university hospitals. PATIENTS: Nine patients with prolonged QT interval in the neonatal period who had been referred for prenatal evaluation. Fetal echocardiograms were obtained from 24 to 40 weeks of gestation. Indications were fetal bradycardia (five patients), a family history of long QT syndrome (two patients), and complex arrhythmias (two patients). RESULTS: Seven fetuses had persistent sinus bradycardia without ventricular arrhythmias (heart rates 70-120 beats/ min). Five patients were treated with propranolol, after the diagnosis had been established by postnatal electrocardiogram (ECG). One of these patients died suddenly at the age of 3 weeks, after the treatment had been stopped because of profound bradycardia. One of the remaining two patients who did not receive propranolol had a syncope at the age of 6 weeks. Two fetuses presented with frequent runs of ventricular tachycardia and intermittent bradycardia caused by intermittent, functional second degree atrioventricular block. Both patients died on the first day of life despite treatment with propranolol and transvenous temporary pacing. CONCLUSIONS: Sinus bradycardia in an otherwise normal fetus may be a symptom of long QT syndrome. Postnatal ECGs and a family examination are strongly recommended in these children. In fetuses with frequent runs of ventricular tachycardia and intermittent second degree atrioventricular block long QT syndrome should be suspected prenatally. These high risk patients should be delivered in centres with a paediatric cardiology unit.

Anti-Arrhythmia Agents↗

[HELLP syndrome: recurrence in 4 consecutive pregnancies].

Recurrence in Four Consecutive Pregnancies in a Patient: We report on the recurrence of HELLP-syndrome in four consecutive pregnancies in a patient. The observation of recurrence of this rare disorder (0.2-0.8% of all pregnancies) in an otherwise healthy patient points to an immunological or genetic predisposition for the development of HELLP-syndrome. At the moment there is no possibility to identify these patients with a high recurrence risk for HELLP-syndrome before the onset of pregnancy.

Adult↗

Three siblings with Walker-Warburg Syndrome.

The Walker-Warburg syndrome (WWS) is an autosomal recessive disease entity within the framework of "cerebro-ocular-muscular syndromes". The gene locus is still undetected. Its diagnostic criteria have been firmly established in the literature on newborns or infants affected with the disease. However, a diagnosis of severe pathologic conditions must often be made on the basis of ultrasound examination at a fetal age. It is therefore necessary to examined whether the diagnostic criteria are sufficient to warrant a diagnosis at the fetal stage. We here report on a new family affected with WWS. Two elder siblings had presented with epileptic seizures, eye abnormalities as well as multiple skeletal dysplasias (the latter finding in the first child only) in the neonatal period, and died in their first years. Postmortem examination of the second child revealed type II lissencephaly, buphthalmos, and undifferentiated retina with rigid retinal folds. Skeletal muscle tissue was not examined. In a sibling fetus, bilateral cataract was detected in the 17th gestational week by ultrasonographic examination. Postmortem examination in the 23rd gestational week revealed type II lissencephaly and bilateral cataract. Skeletal muscle was normal. Taken together, all siblings were diagnosed as Walker-Warburg syndrome. In the fetal case, prenatal diagnosis could only be made with confidence against a background of a positive family history.

Abnormalities, Multiple↗

[The exencephaly-anencephaly sequence. Ultrasound diagnosis in early pregnancy].

AIM: In animal studies exencephaly is well described as a precursor of anencephaly. We have evidence that also in the human fetus the transition from exencephaly to anencephaly is possible. METHOD: We diagnosed either exencephaly or anencephaly by high-frequency vaginal ultrasound in 14 human fetuses at gestational ages varying between 9 + 4 and 22 + 3 weeks. RESULTS: In the first trimester exencephaly was the predominant finding, while in the second trimester the classic appearance of anencephaly was seen more often. In one fetus with exencephaly diagnosed at a gestational age of 12 + 2 weeks, where the parents decided not to intervene, the transition to anencephaly was documented by serial ultrasound examinations. CONCLUSIONS: Our findings support an exencephaly-anencephaly sequence also in humans. The cephalic changes resulting in the classic anencephalic appearance are of importance for the first trimester diagnosis with high resolution vaginal probe ultrasound.

Anencephaly↗

[Rapid karyotyping in the 2nd and 3rd trimester: results and experiences].

Rapid karyotyping in the second and third trimester is an increasing field of collaboration between women's hospitals and human genetics. Techniques available for rapid karyotyping are: 1. Amniocentesis; to obtain amniotic fluid cells for culturing and subsequent chromosome harvesting using the pipette method or the "in situ" technique. The average time between preparation of the amniotic fluid and the verbal notification of the analysed karyotype is 4.65 days for the pipette method and 5.97 days for the "in situ" technique. The major advantages are that amniocentesis can be handled safely by many gynaecologist, and the amniotic fluid samples can be posted easily to cytogenetic units familiar with rapid karyotyping. The main disadvantage is that currently only a few laboratories are able to handle the pipette method or the "in situ" technique for rapid karyotyping. 2. Fetal blood sampling (cordocentesis); and subsequent chromosome analysis on cultivated fetal lymphocytes leading to results within 2 to 4 days. The main advantage of this procedure is the reliability of the results obtained. Fetal blood sampling, however, is restricted to specialists; this may involve scheduling delays. 3. Placental biopsy; with subsequent direct preparation and long term culturing. In comparison to both other techniques this procedure is faster if direct preparation is used. Results can be obtained even on the same day. The main disadvantage, however, is the problem with the reliability of the direct preparation results. They must be confirmed by time-consuming long-term culturing. Data are presented on the likelihood of abnormal ultrasound findings being caused by chromosomal aberrations.(ABSTRACT TRUNCATED AT 250 WORDS)

Amniocentesis↗

[Partial hydatidiform mole in a cytogenetically normal fetus].

The diagnosis of a partial hydatid mole presents a difficult situation for both physician and parents. On the one hand there may be a normal pregnancy whereas on the other hand the mother may be threatened by numerous complications caused by the hydatid mole if the pregnancy is continued. We report on a pregnancy in the 18th week during which a partial hydatid mole was discovered where we considered it justified to advise the parents, after a thorough consultation, to continue with the pregnancy. Ultrasound examination had excluded infaust malformations whereas cytogenetically there was no triploidy of the fetus. Moreover it was possible to closely monitor the course of pregnancy to discover any possible complications well in time. Under these conditions continuation of pregnancy until birth is possible in about 60% of the cases without enhanced risk to the mother, as is evident from the data in the literature. In the case under report, however, there was a life-threatening uterine haemorrhage with placenta previa in the 22nd week of pregnancy resulting in mandatory premature termination of pregnancy. Repeated treatment with cytostatics was subsequently required due to persistence of the mole, since even hysterectomy could not achieve complete remission of the disease.

Adult↗

Six years' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype.

From September 1985 to March 1992, 804 amniotic fluid samples from 64 different diagnostic centres of the Federal Republic of Germany were sent to our laboratory exclusively for rapid karyotyping. The average time needed for notification of the analysed karyotype was 4.65 days when the 'pipette method' was used for chromosome harvesting and 5.97 days when the 'in situ' technique was used. The overall incidence of chromosome aberrations was 15.3 per cent. Data are presented about the likelihood of abnormal ultrasound findings being caused by chromosome aberrations. These findings include polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects. In future, such data need to contain larger numbers of cases for each week of gestation. This will improve the risk evaluation for each case with abnormal ultrasound findings, which should lead to better management during pregnancy, delivery, and postnatal care for those who require rapid karyotyping.

Amniocentesis↗

[Changes in microcirculatory reactivity in patients with gestosis].

There is increasing evidence in the literature, that the endothelium of the microcirculation as site of production of vasoactive substances (prostacyclin, endothelin and nitric oxide) plays a central role in the pathophysiology of pre-eclampsia. In this investigation, we studied skin microcirculation of the forearm and the volar hand at rest, after a cooling procedure and during reactive hyperemia in 13 patients with pre-eclampsia and 13 healthy pregnant controls. For our measurements we used Laser-Doppler Flowmetry, because this method is non-invasive and of no measurable influence to the microcirculation during measurement. Our main findings were: In pre-eclampsia there is a higher skin vasodilatory reserve during reactive hyperaemia compared to the control group indicating an increased resting vasomotor tone in skin vessels. Vascular reactivity to a vasoconstrictor stimulus (local cooling) was significantly greater in pre-eclamptic patients than in controls. Laser-Doppler Flowmetry is suited to measure alterations in skin vascular reactivity in pre-eclampsia, but there is a wide overlapping range in the results of patients with pre-eclampsia and healthy pregnant controls. A clear distinction between normal pregnancy and pre-eclampsia by Laser Doppler flowmetry is not possible.

Adult↗