PubMed Health⌕ Search

Biomedical subjects

R Bollmann

Publications and source records attributed to R Bollmann.

At least 37 records · Page 2Linked to original sources
PubMed2000

Prenatal diagnosis of an aneurysm of the vein of Galen with three-dimensional color power angiography.

The prenatal diagnosis of an aneurysm of the vein of Galen has been reported on only a few occasions. This rare arterio-venous fistula is suspected when an intracerebral hypoechoic cyst is found in which blood flow can be demonstrated by Doppler ultrasound. This is one of the few conditions where Doppler ultrasound is critical for the diagnosis. Three-dimensional color power Doppler (3D-CPA) is a recent ultrasound modality which enables the three-dimensional visualization of vessels and which is more readily available than magnetic resonance imaging (MRI) We report a fetus in which an aneurysm of the vein of Galen was detected at 33 weeks' gestation and where the application of 3D-CPA enabled a better understanding of the spatial orientation and course of the dilated vessels. The neonate was successfully treated with coil angiography but subsequently died at 5 months of age from cardiac decompensation. Where fetal malformations involve the vascular system, 3D-CPA appears to be a promising technique.

Adult↗
PubMed2000

Prenatal diagnosis of intrahepatic communications of the umbilical vein with atypical arteries (A-V fistulae) in two cases of trisomy 21 using color Doppler ultrasound.

We report on two cases of the prenatal diagnosis of arterio-venous communication between the intra-abdominal umbilical vein and atypical arteries. The diagnosis was made by color and spectral Doppler and 'color power angiography'. Both cases presented with hydrops fetalis, one at 14 and the other at 31 weeks of gestation. In the first case, color Doppler demonstrated an atypical arterial vessel connecting the umbilical vein with the aorta; the ductus venosus was patent. Echocardiography showed a so-called atrioventricular canal. In the second case, a complex intrahepatic vascular malformation was found. Color Doppler demonstrated communications between the umbilical vein and the hepatic artery and an atypical artery; the ductus venosus was patent. In the latter case polyhydramnios, duodenal atresia and macroglossia were additionally detected. In both cases, fetal karyotyping revealed trisomy 21. The first case resulted in a missed abortion, the second in a stillbirth. All findings were confirmed on autopsy. Of interest is that both fetuses were affected with trisomy 21. The increasing use of color Doppler in prenatal diagnosis, especially in hemodynamically compromised fetuses, will help to determine the actual incidence of complex vascular malformations of the umbilical vein and to elucidate the impact of such malformations on fetal outcome.

Adult↗
PubMed1999

Toxoplasma gondii infection: analysis of serological response by 2-DE immunoblotting.

Toxoplasma gondii is known to cause a variety of diseases ranging from asymptomatic infections to serious conditions in immunocompromised hosts such as AIDS-patients or transplant recipients. In addition they may cause abortion or fetal abnormalities during pregnancy. Despite the clinical importance, diagnosis, treatment and prevention still remain unsatisfactory. Analysis of the parasitic cell determinants, recognized by specific humoral and cellular immune responses, may have important implications for diagnosis, therapy and vaccination strategies. Two-dimensional electrophoresis (2-DE) was used to resolve and compare protein patterns from Toxoplasma gondii strains RH and BK (mouse virulent strains). Comparison of silver-stained gels showed that 35.2% to 60.3% of the spots had the same position. In a second series of experiments, the reactivity of the spots with human sera was tested. Proteins were transferred to PVDF membranes and were detected with sera from different patient groups. Depending upon the immunoglobulin class (IgG, IgM, IgA or IgE) different epitope patterns were observed. Some of the spots seemed to be recognized in different stages of infection. Sera of two patients with similar serology and comparable stage of infection were compared in order to demonstrate an individual immune response.

Acute Disease↗
PubMed1999

Prenatal diagnosis of congenital varicella syndrome and detection of varicella-zoster virus in the fetus: a case report.

Varicella syndrome (VS) specific malformations were sonographically seen at 22 weeks and 3 days of gestation. Fetal infection was demonstrated by detection of varicella-zoster virus (VZV) DNA in fetal blood and amniotic fluid by polymerase chain reaction (PCR). Following therapeutic abortion, fetal infection was confirmed by detection of VZV DNA in several fetal tissues and placenta, and by histopathological findings like miliary calcified necroses in fetal organs.

Abortion, Therapeutic↗
PubMed1999

Ultrasound measurements of the diameter of the fetal trachea, larynx and pharynx throughout gestation applicability to prenatal diagnosis of obstructive anomalies of the upper respiratory-digestive tract.

The purpose of the present study was to obtain normative data for the fetal upper respiratory tract by using high-resolution ultrasound techniques. Furthermore, we wanted to test the potential utility of the resulting normograms in diagnosing obstructive lesions of the trachea and oesophagus. Sonographic measurements of the diameters of the trachea, larynx and pharynx were obtained at well-defined planes from a prospective cross-sectional sample of 198 normal patients of known gestational age between 15 and 40 weeks' gestation. All measurements were performed during fetal apnea and in the absence of swallowing. The same measurements were also obtained from two cases with laryngeal atresia and three cases with oesophageal atresia, all of which were diagnosed prenatally. The data obtained were plotted on the constructed normograms. In normal fetuses approximately linear relationships existed between tracheal, laryngeal and pharyngeal diameter, on the one hand, and gestational age, on the other, with the measurements correlating significantly (p<0.0001) with gestational age. The linear regression coefficients (r2) for the tracheal, laryngeal and pharyngeal diameters were 0.66, 0.55 and 0.32, respectively. The 95 per cent prediction limits were also calculated. In fetuses with laryngeal atresia only the tracheal diameter was significantly higher as compared with that of normal fetuses. Data of the fetuses with oesophageal atresia showed that there were no changes in the upper airway anatomy. Our study provides normative data for the upper respiratory tract. In the prenatal diagnosis of obstructive neck anomalies the usefulness of the data would seem to be limited to those affecting the respiratory tract. Among the structures measured, only the trachea may prove to be of clinical significance.

Cross-Sectional Studies↗
PubMed1999

[Testicular metastasis of prostatic carcinoma 3 years after subcapsular orchiectomy. A case report].

Metastatic cancer to the testis is a rare phenomenon of prostate carcinoma with only 80 cases reported in the literature. Most of these secondary testicular tumors were diagnosed on routine pathohistological examination of testicular tissue after plastic orchiectomy. In none of these cases metachronous development of these metastases has been described. For the first time we report on a 75-year old patient who developed a prostate carcinoma metastatis to the right testicle three years after undergoing subcapsular orchiectomy. This case shows that the urologist has to think about a metastatic cancer when he sees a testicular tumor also after plastic orchiectomy.

Adenocarcinoma↗
PubMed1999

Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics.

Fragile-X syndrome, a frequent cause of inherited mental retardation, is characterised in almost all cases by a CGG-repeat expansion that is located within the FMR-1 gene and that prevents the expression of fragile-X mental retardation protein (FMRP). We describe a test that simultaneously allows the rapid detection of FMRP in fetal lymphocytes and distinguishes these from fetal erythrocytes. Routine molecular genetic methods fail in the rare cases where protein expression is blocked, although there is no repeat expansion. Furthermore, they are unsuitable in cases of advanced pregnancy. Our test proves extremely valuable under both these circumstances.

Female↗
PubMed1999

Diagnosis of twin reversed arterial perfusion sequence in the first trimester by transvaginal color Doppler ultrasound.

A case of twin reversed arterial perfusion (TRAP) sequence was diagnosed at 12 weeks' gestation using transvaginal color Doppler ultrasound, which demonstrated the presence of retrograde perfusion in the umbilical artery of the abnormal twin. Ultrasound imaging showed a monochorionic-diamniotic twin pregnancy with an inappropriately grown second twin, the morphological evaluation of which revealed an abnormal cephalic pole with acrania, diffuse subcutaneous edema and the presence of cardiac activity in an abnormal heart with a single chamber.

Abnormalities, Multiple↗
PubMed1999

[Prenatal diagnosis of heart defects and associated chromosomal aberrations].

AIM: According to epidemiological studies on newborns, the association of congenital heart defects with chromosomal anomalies varies between 4 and 12%. Prenatally this rate is probably higher, due to antenatal death occurring in fetuses with chromosomal aberrations. The aim of the study was therefore to determine the rate and the distribution of chromosomal aberrations in prenatally detected heart defects. PATIENTS AND METHOD: Within a period of 7 years fetal echocardiography was performed on 2716 fetuses at high risk for CHD. The analysis of the fetal heart was achieved by the visualization of different planes. Once a heart defect was detected, karyotyping was performed after amniocentesis, cordocentesis or chorion villous sampling, or in a few cases postnatally from cord blood. Prenatal ultrasound findings were confirmed postnatally by ultrasound examination or, in case of abortion, stillbirth or neonatal death, by autopsy. RESULTS: A total of 203 fetal heart malformations were detected and 46 of them (22%) had associated chromosomal anomalies. 60% of all cases and 80% of the study group had extracardiac anomalies. Only eight out of the 46 pregnant women (17.5%) were older than 35 years. Eight out of the 15 fetuses with trisomy 18 had a ventricular septal defect, 9/13 fetuses with trisomy 21 had an atrioventricular septal defect and all 5 fetuses with monosomy X had a left heart outflow obstruction. No typical cardiac defects were found in the remaining 13 fetuses (5 trisomy 13, 2 triploidies, 6 miscellaneous). Of the 13 live births (23 terminations of pregnancy and 10 intrauterine deaths) 6 children survived (46% and overall survival rate 13%). The following rates of associations with aneuploidies were found: atrioventricular septal defect 55%, ventricular septal defect and aortic coaction both 43%, tetralogy of Fallot and double outlet right ventricle both 36%. In comparison, fetuses with isomerism, transposition of the great arteries and pulmonary atresia or stenosis had normal chromosomes. CONCLUSION: We conclude that the rate of association of heart defects and chromosomal abnormalities is higher prenatally than in the neonatal period and is approximately 22%. After detecting a fetal cardiac malformation, karyotyping is mandatory for the further management of pregnancy. The likelihood of detection of an aneuploidy increases when some typical heart defects are detected or when an association with extracardiac anomalies is found.

Amniocentesis↗
PubMed1999

Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

Adult↗
PubMed1998

Angiomyxoma of the umbilical cord in one twin with cystic degeneration of Wharton's jelly. A case report.

We report the prenatal diagnosis of an angiomyxoma of the umbilical cord in a female fetus of a dizygotic twin pregnancy. The pregnant woman was hospitalized at 18 weeks for exclusion of a suspected exomphalos. Using high-resolution ultrasound and color doppler, the umbilical tumor (8 x 5 x 4 cm) was suspected to be an angiomyxoma without malformations in the fetus. Neither chromosomal aberrations nor elevated alphafetoprotein were found after amniocentesis. Serial examinations showed an increase in the size of the cystic mass without deterioration of the fetal condition. Macroscopical and microscopical examinations of the tumor performed after delivery revealed an angiomyxoma with cystic degeneration of Wharton's jelly. Tumors of the umbilical cord are rare anomalies and should be considered when using prenatal ultrasound for detection of cystic lesions.

Adult↗
PubMed1998

Benign and malignant cells in effusions: diagnostic value of image DNA cytometry in comparison to cytological analysis.

Identifying tumor cells in body cavity fluids reliably is a well-known diagnostic problem. Since cytometric quantitation of nuclear DNA content appears to be a promising new tool in the diagnosis and prognostic evaluation of many solid human tumors, we examined its validity in detecting malignant cells in cytologically positive effusions. For this purpose, image DNA cytometric measurements, including the evaluation of DNA-ploidy and the calculation of the DNA index (DI), were performed in 80 body cavity fluids. The results were correlated with cytology, clinical course and final histological diagnoses. We used aneuploidy, as shown by interactive image DNA cytometry, as a marker for the malignancy of cells that occur in body cavity fluids with a 100% specificity and 94.8% sensitivity. Cytological investigation showed a 92.3% specificity and 95.4% sensitivity. Combining both methods raised the specificity to 100% and the sensitivity to 98.5% and had a positive predictive value of 100% and a negative predictive value of 93.8%. The DNA-index (DI) was significantly higher in malignant effusions than in benign effusions: 1.5 +/- 0.74 (mean +/- SD) versus 1.11 +/- 0.26 (p < 0.05). Along with the difficult cytological evaluation of malignant cells in body cavity fluids, image DNA cytometry can be a helpful additional method for evaluating these cells. Combining the two techniques results in a highly specific and sensitive prediction of malignant cells. We, therefore, suggest using these methods for the reliable identification of tumor cells in effusions.

Aged↗
PubMed1998

Correlation of prenatal ultrasound diagnosis and morphological findings of fetal autopsy.

The findings of prenatal ultrasound diagnosis were compared with the autopsy findings in 183 fetuses (between the 14th and 24th week of gestation), aborted for fetal malformations in the period from 1995 to 1997. In these 183 cases, the primary diagnosis showed 50 central nervous system anomalies, 48 cardiovascular system anomalies, 42 genitourinary system anomalies, 18 respiratory system anomalies, 8 skeleton system anomalies, 6 gastrointestinal system anomalies and 11 other abnormalities. Of the total number of cases, 41% had multiple malformations. In 144 cases (78%), the prenatal diagnosis was confirmed by autopsy, in 36 cases (20%) the prenatal diagnosis was confirmed with additional significant pathology, and in only 3 cases (2%) the prenatally detected malformation was not confirmed by pathological examination. Autopsy remains an important component of the evaluation of fetal losses after induced abortion.

Autopsy↗
PubMed1998

The upper neck pouch sign: a prenatal sonographic marker for esophageal atresia.

Prenatal suspicion of esophageal atresia is usually based on the finding of a small or absent fetal stomach in association with polyhydramnios. As similar findings may be generated by other abnormalities, confirmation of the diagnosis is generally not possible until birth. We present a case in which the suspicion of esophageal atresia was raised in the 22nd week of pregnancy in the presence of a small stomach bubble associated with a persistent left superior vena cava. The diagnosis was confirmed 4 weeks later by direct visualization of the fluid-filled blind-ending esophagus during fetal swallowing, which we called the upper neck pouch sign. This is the first case in which the onset of this sonographic entity was specifically observed on serially repeated sonograms as early as the 22nd week. The appearance of this direct sign of esophageal atresia is described, and the literature is reviewed.

Adult↗
PubMed1998

Doppler echocardiography of the main stems of the pulmonary arteries in the normal human fetus.

The objective of this study was to describe the normal blood flow velocity waveforms in the main branches of the right and left pulmonary arteries in the human fetus and to establish reference ranges for different Doppler parameters during the second half of pregnancy. Cross-sectional data were collected from 86 healthy human singleton fetuses between 18 and 38 weeks of gestation. With advancing gestation a significant increase (p < 0.001) in the peak systolic velocity, time averaged velocity and time velocity integral was observed. The pulsatility index decreased significantly (p < 0.05) in the same period, suggesting a decrease in the pulmonary arterial vascular resistance. The acceleration time (AT) and the ratio of AT to ejection time (AT/ET), described in postnatal cardiology as having an inverse correlation with mean arterial pressure, increased significantly (p < 0.001). This is possibly the result of decreased pulmonary arterial pressure. The data show that Doppler examination of blood flow in the main stem of both the right and the left pulmonary arteries of the fetus is feasible, and increases insight into the lung perfusion of the human fetus. The observed changes throughout gestation are in accordance with animal experiments showing an increase in perfusion as well as a decrease in the vascular resistance and pressure.

Blood Flow Velocity↗
PubMed1998

Fetal hepatosplenomegaly: an isolated sonographic sign of trisomy 21 in a case of myeloproliferative disorder.

Enlargement of the fetal liver and spleen as well as oligohydramnios were the only pathological sonographic signs detected in a pregnant woman presenting because of decreased fetal movements at 31 weeks' gestation. Doppler examination of fetal vessels revealed pathological values (absent or reversed flow in the umbilical artery, centralization of fetal circulation). No hydrops development or any further malformations were seen. The association of pathological Doppler findings with hepatosplenomegaly roused the suspicion of fetal infection. The infant had to be delivered because of deterioration of fetal heart rate patterns 2 days later. The newborn had Down's syndrome and the confirmed hepatosplenomegaly was found to be due to a transient myeloproliferative disorder with severe leukocytosis and predominance of immature blast forms. Hematological parameters normalized without specific therapy within 3 weeks. Although transient leukemic reactions have been diagnosed prenatally in cases of Down's syndrome associated with non-immune hydrops, to our knowledge this is the first reported case of isolated hepatosplenomegaly visualized by prenatal ultrasound as a sign of trisomy 21. The presence of fetal hepatosplenomegaly has to be taken into consideration as a possible marker for trisomy 21 and not only for infectious or metabolic diseases.

Adult↗
PubMed1998

Doppler assessment of tracheal fluid flow during fetal breathing movements in cases of congenital diaphragmatic hernia.

OBJECTIVE: The purpose of this investigation was to examine the characteristics of breathing-related fluid flow in the trachea of human fetuses with congenital diaphragmatic hernia in the hopes of developing a standard for the prenatal diagnosis of the degree of severity of the resulting pulmonary hypoplasia. Our ultimate goal is the prediction of postnatal mortality in fetuses with congenital diaphragmatic hernia. SUBJECTS AND METHODS: The study comprised six cases of isolated congenital diaphragmatic hernia (one on the right side; five on the left) varying in gestational age from 26 to 36 weeks. Four of the patients survived after surgical repair and two died during the neonatal period owing to lung hypoplasia. Color Doppler was used to visualize the fluid displacement in the trachea generated by fetal breathing movements. Spectral Doppler was then used to analyze the fluid flow velocity waveforms. More than 40 continuous breathing cycles (inspiration + expiration) were recorded for each case. We distinguished between regular and irregular patterns. RESULTS: Only the regular breathing phases, defined as five or more consecutive cycles of symmetric appearance, were considered for analysis. The inspiration and expiration times, the peak velocity of inspired and expired fluid and the volume obtained by integration of the tracheal fluid flow displaced during fetal breathing were compared with those of five healthy fetuses for each gestational age. Only the tracheal volume flow was helpful in predicting outcome. In normal pregnancies this parameter increased from 0.21 +/- 0.10 ml/breath (mean +/- SD) at 26 weeks to 1.37 +/- 0.48 ml/breath at 36 weeks of gestation. A significantly low (p < 0.05) volume flow was found only in the fetuses with congenital diaphragmatic hernia with a lethal postnatal outcome, whereas this parameter was normal in all survivors. CONCLUSIONS: Our preliminary observations suggest that the tracheal volume flow during fetal breathing activity is related to lung growth. In fetuses with severe lung hypoplasia one would expect a significant reduction in this parameter as an expression of deficient fetal lung growth. The displaced fluid volume per breath in the trachea of human fetuses as assessed by Doppler ultrasound may be a useful predictor of outcome in cases of isolated congenital diaphragmatic hernia.

Female↗