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.

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.

[Displacement margins and edge contour: informative criteria of tumor dignity in ultrasound mammography]. / Der Verdrängungsrandsaum und die Randkontur: Sensible Dignitätskriterien in der Mammasonographie.

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.

[The importance of measuring both umbilical arteries for accuracy in Doppler ultrasound studies]. / Die Bedeutung der Messung beider Nabelarterien für die Aussagekraft dopplersonographischer Untersuchungen.

In a quarter of our Doppler investigations differences between the S/D-ratios of the arteries of one umbilical cord were more than 20%. In these cases one Doppler value was decided to be normal and the other to be pathological. In cases with two pathological values most caesarean sections because of fetal distress had to be performed and most SGA babies were born. There were relatively more caesarean sections and SGA babies in cases with one normal value and one pathological value than in cases with two normal Doppler values. Sensitivity and specificity of perinatal risks like intrauterine growth retardation or caesarean section because of fetal distress were different depending on which Doppler value was used to calculate these statistical parameters. Taking always the better values compared to the worse ones we found as greatest difference 20.0% for sensitivities and 24.1% for specificities. Taking the means of the better and the worse Doppler values we found as greatest difference 5.6% for sensitivities and 8.7% for specificities compared to the cases with two identical Doppler results. To decide whether the fetus is jeopardized and to describe the nutritional function of the placenta correctly by means of Doppler ultrasound of the umbilical artery we conclude that in some cases the investigation of both arteries is important to avoid false positive or false negative results.

[Doppler ultrasound diagnosis in post-term pregnancy]. / Doppler-Ultraschalldignostik bei Terminüberschreitung.

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)

[The value of Doppler ultrasound studies in threatened premature labor]. / Die Wertigkeit von Doppler-Ultraschalluntersuchungen bei drohender Frühgeburt.

95 patients were investigated using Doppler ultrasound to evaluate its usefulness during the clinical management of patients with preterm labor, preterm rupture of membranes and incompetent cervix. Cases with additional pregnancy complications as preeclampsia or intrauterine growth retardation or infection of the amnion or the birth canal were excluded from our study. We examined the umbilical artery and the uterine arteries. Predicting preterm birth we found a sensitivity of 31.4% and a specificity of 70% for the former and a sensitivity of 34.3% and a specificity of 83.3% for the latter. As a result of our investigation we have to conclude that Doppler ultrasound is not able to predict sufficiently reliable preterm birth to use it in clinical management. Normal uterine blood flow in cases with preterm labor seems to indicate birth at term in a high degree.

[Doppler ultrasound studies of breast tumors with the continuous wave technique]. / Dopplersonographische Untersuchungen von Mammatumoren in CW-Technik.

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.

[The echo-dense edge and hyper-reflective spikes: sensitive criteria for malignant processes in breast ultrasound]. / Der echodichte Randsaum und hyperreflexive Ausläufer: Sensible Kriterien maligner Prozesse in der Mammasonographie.

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.

[The value of Doppler ultrasound studies within the scope of obstetric management in unexpected findings in the cardiotocograph]. / Die Wertigkeit von Doppler-Ultraschalluntersuchungen im Rahmen des geburtshilflichen Managements bei unerwarteten Befunden im Kardiotokogramm.

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.

[The value of adjuvant ampicillin therapy in idiopathic premature labor]. / Zur Wertigkeit adjuvanter Ampicillin-Therapie bei idiopathischer vorzeitiger Wehentätigkeit.

Evidence suggests that subclinical intrauterine infection may play an etiologic role in preterm labour. To test the hypothesis, that treatment with antibiotics might delay delivery, we retrospectively have investigated 104 women in idiopathic preterm labour who were given ampicillin additional to tocolysis and 90 comparable women without antibiotic treatment. There were no significant differences between the two groups in regard to prolongation of gestation, gestational age at delivery, fetal weight, fetal well-being or connatal infections. Adjuvant ampicillin treatment of women in idiopathic premature labour without other signs or indicators of subclinical intrauterine infection seems not beneficial.

[Doppler ultrasound differentiation of benign and malignant breast tumors]. / Die dopplersonographische Differenzierung von benignen und malignen Mammatumoren.

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.

[Transvaginal Doppler ultrasonographic patterns of total uterine perfusion in the development of utero-placental insufficiency with pre-eclampsia]. / Transvaginal-dopplersonographische Verlaufsbeobachtung der uterinen Gesamtperfusion bei Entwicklung einer utero-plazentaren Insuffizienz mit Prä-Eklampsie.

In the case reported pathological flow velocity was detected by means of transvaginal Doppler imaging from the 7th week onwards. In correlation with pathological flow patterns placental insufficiency with pre-eclampsia developed later in the pregnancy. In the 29th week caesarean section became necessary because of a severe hypertensive crisis and pathological CTG's.

[Parametrial hematoma after forceps delivery]. / Parametranes Hämatom nach Forcepsentbindung.

We report on a large intraligamentous haematoma developed after low forceps delivery. The diagnosis was made from symptoms and signs, rectal examination, and sonographic findings. The haematoma was incised and clots were evacuated by laparotomy. The bleeding vessel could be ligated. The 31-year-old woman left our hospital on the 12th postoperative day.

[Ultrasound Doppler sonography in obstetrics. A comparison between simple Doppler methods (continuous or pulsed Doppler) and the duplex system (combination of B-image and pulse Doppler)]. / Ultraschall-Doppler-Sonographie in der Geburtshilfe. Ein Vergleich zwischen einfachen Dopplermethoden (kontinuierlicher oder gepulster Doppler) und dem Duplex-System (Kombination von B-Bild und gepulstem Doppler).

120 pregnant women between the 26th and 42nd week of gestation have been examined using simple Doppler-units with pulsed- or continuous-wave technique and duplex Doppler-units (combined B-mode and pulsed-wave Doppler). The umbilical and uterine arteries were measured with both units in a semi-recumbent position at the same time by the same examiner. Only ideal flow profiles were taken to calculate the S/D-ratio. Our results were correlated to the fetal outcome, to all cases of pre-eclampsia and to all cases of intra-uterine growth retardation. Except in one of these cases we got the majority of pathological results using simple Doppler-units. Only in pre-eclampsia the duplex Doppler-units had the majority of pathological results. Even in normal fetal outcome the majority of simple Doppler-unit results are pathological. This finding is due to the impossibility to localize the vessel exactly using simple Doppler-units. Sensitivity is higher in simple Doppler-techniques (74.3% to 52.9%), specificity is higher in duplex Doppler-technique (77.9% to 52.6%).

[Cerebral blood flow during labor]. / Cerebraler Blutfluss unter der Geburt.

The successful results obtained using Doppler sonography for antepartal diagnosis gave cause to use the method during labor. For this purpose doppler measurements of the intern fetal carotid artery of a group of 7 patients with normal course of pregnancy were made and a continuous direct CTG was recorded simultaneously. The Doppler parameter, the S/D-ratio, for the contraction phases were compared with those of the contraction--free phases. During the contraction phase the S/D-ratio was higher than during the relaxation period of the uterus. The difference between these values were proved to be statistically significant. A comparison of the doppler parameter of the patients at onset of labor and the patients at the end of labor showed, that the S/D-ratio increased significantly at the end of labor. This result demonstrates, that the intravascular resistance in the fetal carotid artery increased due to the cephalic pressure.

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.

[Doppler study of the fetal and uteroplacental blood flows in normal pregnancy]. / Doplerovo izsledvane na fetalniia i utero-platsentarniia kruvotok pri normalna bremennost.

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.

[The effect of body position on uterine blood flow in the 3d trimester of pregnancy]. / Der Einfluss der Körperposition auf die uterine Durchblutung im 3. Schwangerschaftstrimenon.

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.