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H Fendel

Publications and source records attributed to H Fendel.

At least 19 recordsLinked to original sources
PubMed1997

Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.

UNLABELLED: The Schwartz-Jampel syndrome (SJS; chondrodystrophic myotonia; McK 255,800) is a recessively inherited condition defined by myotonia, short stature, and bone dysplasia. Genetic linkage between SJS and chromosomal region 1q36-34 has been observed in several families, but the gene has not yet been identified. We studied the clinical and radiological features in 81 patients from the literature and 5 own patients trying to identify distinct subgroups. In addition, we tested genetic linkage to the SJS locus on chromosome 1 in one family with two affected sibs. We found that a group of patients have mild skeletal changes which may be secondary consequences of myotonia, while another group of patients appear to have primary bone dysplasia with myotonia. Within this latter group, there are differences in age of manifestation, clinical course and pattern of bone changes. We tentatively isolate three different types of SJS: type 1A, usually recognized in childhood, with moderate bone dysplasia, corresponding to the original descriptions of Schwartz, Jampel and Aberfeld; type 1B, similar to type 1A but recognizable at birth, with more pronounced bone dysplasia resembling Kniest dysplasia; and type 2, manifest at birth, with increased mortality and bone dysplasia resembling Pyle disease. Genetic analysis of the family with two sibs affected by SJS type 2 showed evidence against linkage to chromosome 1p36-34. CONCLUSIONS: SJS is clinically and radiologically heterogeneous. The causes of heterogeneity are not known yet but are likely to include both different mutations at the SJS locus on chromosome 1 and the presence of a second SJS locus. A tentative clinico-radiological classification can be useful for the characterization of patients and the development of genotype-phenotype correlations.

Adolescent↗
PubMed1996

Development of quantitative Doppler indices for uteroplacental and fetal blood flow during the third trimester.

The aim of our study was to describe the development of uteroplacental and fetal blood flow during the third trimester. Doppler examination was carried out on 393 uncomplicated pregnancies with uncomplicated term delivery. Using a pulsed color Doppler, we calculated the maximum systolic, mean and maximum end-diastolic velocity after correcting the angle of insonation. Patients under tocolysis or other medication influencing blood flow parameters were excluded from this cross-sectional study. Summarizing the results gained by Doppler ultrasound investigation of the uteroplacental and fetal blood vessels, we created quantiles as quantitative Doppler indices for the maximum systolic, mean (TAMX = time averaged maximum velocity) and maximum end-diastolic velocity. The following conclusions could be drawn: (1) resistance to the blood flow in the maternal portion of the placenta does not change during the third trimester; (2) resistance to the blood flow on the fetal side of the placenta decreases up to week 42 of gestation; (3) cerebral vascular resistance decreases constantly up to gestational week 42; and (4) vascular resistance to the blood flow of the kidney decreases only slightly during the third trimester. This study offers clinically important values for quantitative Doppler flow velocimetry for the first time. We hope that our findings improve the usefulness of Doppler ultrasound as a diagnostic tool in obstetrical management.

Blood Flow Velocity↗
PubMed1995

[Displacement margins and edge contour: informative criteria of tumor dignity in ultrasound mammography].

88 patients with ultrasonically detected breast tumours were examined at the Department of Obstetrics and Gynaecology of the Technical University Aachen (RWTH) in the context of a prospective study. Ultrasonic contour characteristics and marginal zone displacement properties were evaluated with regard to their usefulness as criteria for detecting malignancy. using a highresolution hand-held 10 Mhz scanner. With regard to marginal zone displacement as a sign of benignancy, a sensitivity of 67.6% and specificity of 86.3% were found (positive and negative predictive value reaching 89.3% and 86.3%, respectively). A sensitivity of 84.3% and specificity of 86.5% could be demonstrated when an ill-defined, jagged contour was taken as a sign of malignancy. A well-defined, smooth contour resulted in a sensitivity and specificity of 62.2% and 100%, respectively, when used as criterion for benignancy. No clear indication could be found to support the use of an ill-defined but smooth contour as a sign of benignancy. 56.3% showing the aforementioned characteristic were benign, the rest (43.7%) were malignant neoplasias. The evaluation of ultrasonic contour characteristics and marginal zone displacement properties are hence fundamental criteria to augment other characteristic tumour signs in the ultrasonic diagnosis of breast pathology.

Adenocarcinoma, Scirrhous↗
PubMed1993

[Doppler ultrasound diagnosis in post-term pregnancy].

The capability of Doppler flow velocimetry to predict intrauterine growth retardation is well known. The increased morbidity and mortality rate of postterm newborns is also well known. The aim of our study was to examine if Doppler flow velocimetry is able to indicate foetal jeopardy in the postterm period. Flow velocimetry of the foetal descending aorta, the umbilical artery, the uterine arteries and in 59 cases also the foetal middle cerebral artery was obtained from 167 pregnancies after 40 completed weeks of gestation. We found significant changes of normal values in prolonged pregnancy compared to third trimester normal values, examining the mean velocity of the foetal descending aorta and the S/D-ratio of the umbilical artery. No clinically significant changes were found examining the S/D-ratio of the uterine arteries and the pulsatility index of the foetal middle cerebral artery. Daily examinations of the foetal descending aorta were carried out in 23 and of the umbilical artery in 19 cases during the last four days before delivery, and in 11 cases of the foetal middle cerebral artery during the last three days before delivery. We did not find significant changes in the medians of the mean velocity of the foetal aorta, of the S/D-ratio of the umbilical artery and of the pulsatility index of the foetal middle cerebral artery. Measurement of sensitivity and positive predictive value of the four arteries examined showed, that Doppler ultrasound could not predict small for date infants or Caesarean section because of foetal distress.(ABSTRACT TRUNCATED AT 250 WORDS)

Aorta↗
PubMed1993

[The echo-dense edge and hyper-reflective spikes: sensitive criteria for malignant processes in breast ultrasound].

At the Department of Gynaecology of the RWTH-Aachen, 110 patients with palpatory and/or mammographic suspect findings were sonographically examined. By using a high resolution 10 MHz-probe with a freely mobile transducer, a new method of differential diagnostic criteria was established, pertaining to the edge of the tumour. The high echogenetic halo and the hyperdense spikes proved to be most important differential diagnostic tools in assessing sonographically suspect tumours.

Adenofibroma↗
PubMed1993

[The value of Doppler ultrasound studies within the scope of obstetric management in unexpected findings in the cardiotocograph].

In a study of 30 cases with moderate or serious foetal heart rate alterations, we examined the influence of Doppler ultrasound on our obstetrical management. Normal results of Doppler umbilical artery flow velocity waveform analysis would allow us in 22 of 24 cases, to continue the pregnancy under usual control. Only in two cases with moderate foetal heart rate alterations, absence of labour and a normal Doppler result, Caesarean section was necessary because of foetal distress. A pathological Doppler result was found in six cases with intrauterine growth retardation. These risks were not known prior to the patients hospitalisation. Surprisingly, we found only moderate foetal heart rate alterations in these cases. Without any further control of the foetal heart rate, we decided to perform Caesarean section immediately after the Doppler investigation. We are of the opinion, that Doppler ultrasound could be very useful in obstetrical management to decide, if the pregnancy must be ended or could possibly be continued in cases of premature birth.

Apgar Score↗
PubMed1993

[Doppler ultrasound studies of breast tumors with the continuous wave technique].

The aim of the study was to ascertain the reliability of continuous-wave Doppler signals in the diagnosis of breast cancer. CW-Doppler findings in a series of 63 cases of palpable breast tumors with histologic confirmation (24 malignancies and 39 benign tumors) are reported. Depending on the parameters used -20 -24 of 24 malignant nodes (83%-100%) and 20 -24 of 39 benign lesions (51%-62%) were correctly identified. Even benign tumors showed significant differences in systolic peak and diastolic frequencies compared to the contralateral breast. The Resistance-Index (RI) did not allow the differentiation of lesions when measured on one side only. Comparing the Resistance-Indices of both breasts helped improving the specificity of CW-Doppler-sonography to 89.7% and the positive predictive value to 73.3%. The CW-Doppler-sonography with the relevant parameters of diastolic and systolic peak frequency and the RI is considered a useful tool in the diagnosis of breast cancer.

Adolescent↗
PubMed1991

[Doppler ultrasound differentiation of benign and malignant breast tumors].

Before surgery we studied the blood flow in and around 59 breast tumours (35 malignant and 24 benign) and investigated a correlation with the histology. The most decisive factors were the maximum end-diastolic frequency B (probability greater than magnitude of z = 0.0009) and the mean frequency F mean (probability greater than magnitude of z = 0.0017). The maximum systolic frequency A, the resistance index Ri, the diastolic angle W and the pulsatility index Pi showed less significant differences between malignant and benign histological types. In a retrospective survey, we tried to confirm the definitive histology by our Doppler results. In this, we failed in 17.14%--of malignant cases and in 33.33% in the cases of benign tumours.

Abscess↗
PubMed1990

Comparison of plain and Gd-DTPA-enhanced MR-imaging in children.

40 children and adolescents (aged 1-16 years) were examined by MRI at 1.0 T. Gd-DTPA was given intravenously at a dose of 0.1 mmol/kg body weight. In all cases T1-weighted SE sequences were used to demonstrate contrast enhancement. No adverse effects were seen. 30 patients had one or more lesions; in 20 patients contrast enhancement was seen. In 4 cases lesions were not observed by plain MRI and could only be detected after Gd-DTPA. In addition, contrast enhancement provided additional information about the differentiation of lesion from edema or necrosis in 13 patients. Normal brain matter did not show any changes in signal intensity. However, an age-dependent signal increase was found in the normal vertebral bone marrow in all children. Gd-DTPA should be used as a supplementary examination whenever a tumor or an infectious disease of the CNS is suspected and plain MRI is normal, or when origin and extent of a lesion cannot be adequately defined with plain MRI.

Adolescent↗
PubMed1990

[Doppler study of the fetal and uteroplacental blood flows in normal pregnancy].

The Doppler examination of the fetal and uteroplacental blood flow established that the mean velocity of the blood flow in the fetal aorta was 32.46 +/- 2.13 cm/s, in the arcuate artery--60.46 +/- 10.75 cm/s, in the umbilical artery--33.54 +/- 7.14 cm/s, but in the umbilical vena--15.83 +/- 1.00 cm/s. It was indicated that the volume of the blood flow of the fetal aorta in ml/min was increased with advancement of the gestational age, but it remained relatively constant during pregnancy when it was estimated in ml/min/kg. The characteristic of Doppler wave of the fetal aorta as well as of the umbilical artery and arcuate artery were analysed. It is pointed out that the Doppler examination of the fetal and uteroplacental blood flow is a new, noninvasive, valuable and objective method in the diagnosis of the fetal state.

Blood Flow Velocity↗
PubMed1989

The use of a vaginal probe in the diagnosis of ectopic pregnancy.

75 patients with suspected ectopic pregnancy, referred to the department of Gynaecology and Obstetrics of the RWTH-Aachen between July 1987 and May 1988, were examined by means of transvaginal sonography. The sonographic findings were subsequently vaudated by clinical and/or surgical means. An ultrasound diagnosis of an ectopic pregnancy could not be confirmed in only 3 out of 25 such cases.

Adult↗
PubMed1989

Rational use of diagnostic imaging in paediatrics. The report of a World Health Organization Study Group.

The World Health Organization (WHO) is the agency of the United Nations with primary responsibility for international health matters and public health. Through the exchange of the knowledge and experience of health professionals from 165 nations WHO promotes comprehensive health services worldwide. As a part of this effort WHO has in recent years been concerned with improving the availability and utilization of diagnostic imaging, especially as it relates to health services in developing countries. Having devised and specified suitable basic radiographic equipment (the WHO BRS) a WHO Scientific Group was convened in 1982 to study the utilization of radiographic procedures and to to recommend their more efficacious and rational use. Then in 1984, recognizing the implications of newer imaging technology on world health, a second WHO Scientific Group considered the design, impact and future use of ultrasonography and computed tomography in developing countries. The findings of these scientific groups were published as part of the WHO Technical Report Series which makes available the recommendations of such international groups of experts. Although some of the needs of children were considered in these previous Technical Reports, WHO felt that the size and socioeconomic importance of the paediatric population worldwide warranted a further study and report to address the particular technical and clinical problems of diagnostic imaging in the paediatric age group. Thus a third WHO Scientific Group met in Geneva from 18 to 24 November 1985 to review established practices and experience in paediatric imaging throughout the world; and to recommend rational guidelines for diagnostic imaging for children to age 14 years.(ABSTRACT TRUNCATED AT 250 WORDS)

Child↗
PubMed1989

Umbilical and portal vein calcification following umbilical vein catheterization.

Calcifications of the umbilical vein and intrahepatic branches of the portal vein developed in a newborn who had an umbilical vein catheter inserted for 11 days postnatally. The calcified intrahepatic portal veins can still be demonstrated sonographically at the age of three years, but these calcifications were no longer detectable radiologically.

Calcinosis↗
PubMed1989

Pyonephrosis in childhood--is ultrasound sufficient for diagnosis?

The validity of ultrasound in the diagnosis of pyonephrosis in infants and children was retrospectively investigated in 14 patients. The disease was unilateral in 13 patients and bilateral in one. The diagnosis was proven by percutaneous nephrostomy in 7 and by operation in 7 patients. Ultrasound was true positive in 9 patients (10 kidneys) and false negative in 5. Large staghorn calculi were present in 2 of the 5 false negative cases. A group of 20 patients with simple hydronephrosis, investigated by percutaneous punctures, served as a control group. There were two false positive cases in this group. The sensitivity of sonography for the diagnosis of pyonephrosis was only 66.7%, which is considerably lower than in previous reports. We therefore recommend early sonographically guided percutaneous puncture of the renal pelvis whenever pyonephrosis is suspected.

Adolescent↗
PubMed1989

[The effect of body position on uterine blood flow in the 3d trimester of pregnancy].

Uterine vessels of 20 women with uncomplicated pregnancy between the 34th and 38th week of gestation were examined by means of Duplex sonography and a "simple" Doppler ultrasound device without sectional view and spectral analysis. Blood flow in several uterine vessels was recorded in various body positions: lying, sitting on a bench, standing, and - with some of the patients - in a position sitting on a so called "Variable Balance Chair". The relationship between the systolic and diastolic levels, as well as the shape of the Doppler curve, led to the Doppler parameters used. The Doppler parameters pointing to the best perfusion were found in the lying position, and sitting on the "Variable Balance Chair". Uterine perfusion seemed to be significantly decreased at the regular sitting, and in the standing position. Likewise, the shape of the Doppler curves indicated higher resistance in the blood vessels in the standing and the regular sitting position. The observations show that there are other factors that influence the momentary uterine perfusion besides uterine contractions. These results seem to be useful for the management of foetal growth retardation.

Blood Flow Velocity↗