Einsatzmöglichkeiten der Chromosomenfeinanalyse (CFA) in Gynäkologie,Geburtshilfe und Pädiatrie

Ohne Zusammenfassung     

The evaluation of run-off prior to infra-inguinal bypass reconstruction - a modified scoring system based on flow measurement.

OBJECTIVES: To compare angiographic scoring and flow measurements in the assessment of run-off prior infra-inguinal bypass. PATIENTS AND METHODS: In a series of 108 consecutive infra-inguinal bypasses, run-off was scored on the basis of pre- and post-operative angiograms and related to intra- and post-operative flow rates as determined by Doppler ultrasonography. RESULTS: There was a highly significant correlation between the angiographic score and flow (p = 0.0000), as well as between angiographic score (p = 0.0000), flow (p = 0.0000) and the level of distal anastomosis. Flow determined per crural vessel (quotient of flow to angiographic score) proved to be independent of the level of distal bypass anastomosis (p = 0.20). CONCLUSION: In this study, angiographic scoring and Doppler flow measurements were equally valid means for the assessment of run-off. Our system allows an objective assessment of run-off independently of the distal bypass anastomosis level and provides a functional estimation of run-off.     

Extraocular changes in congenital aniridia]

The authors draw attention to possible extraocular changes in children with congenital aniridia. Of 31 investigated patients they were found in 5 children. Among these changes, because of its serious character, Wilms tumour holds the first place; it was found by the authors in two children. To ensure its early detection, the authors emphasize the necessity to dispensarize all children with congenital aniridia. Collaboration with an experienced X-ray specialist and child oncologist is essential. In addition to Wilms' tumour congenital aniridia can be associated with serious somatic developmental changes. The authors observed in one child and AGR triad and in two patients deformities of the skeleton of the head and lower extremities.     

X-chromosomale Adrenoleukodystrophie

Ohne Zusammenfassung Prof.Dr. J.G?rtner Zentrum Kinderheilkunde, P?diatrie II, Kinderheilkunde mit Schwerpunkt Neurop?diatrie, Universit?tsklinikum, Georg-August Universit?t G?ttingen, Robert-Koch-Strasse 40, 37075 G?ttingen, E-Mail: gaertnj@med.uni-goettingen.de     

Primäre ziliare Dyskinesie

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary motion and impaired mucociliary clearance. The prevalence of PCD is approximately 1:20,000 live births. Since cilia are common in many organs of the body, there is a wide variety of clinical manifestations in patients with PCD. Due to an extensive genetic heterogeneity the course of the disease varies largely, but with increasing age, the clinical symptoms are dominated by repeated respiratory infections and ultimately respiratory insufficiency. In the presence of situs inversus, which is observed in 50% of affected individuals, the diagnosis is easy, In cases of doubt, analyses of the kinetics and infrastructure of the cilia are necessary. The treatment of PCD is symptomatic. With optimal medical and physiotherapeutic management, the prognosis quoad vitam is good and life expectancy is nearly normal.     

The traumatic dural sinus injury — a clinical study

Summary In a period of 13 years 978 cases of severe head injuries were operated on in our clinic. An analysis of the medical reports includes injuries of the superficial dural sinus (39 cases=4%): among these injuries of the anterior and central part of the superior sagittal sinus (66 per cent), injuries of the transverse sinus (18 per cent), injuries of the posterior part of the superior sagittal sinus (8 per cent), and combined injuries of different dural sinuses (8 per cent).Clinical data, i.e. the causes of accident, radiological examination results, intracranial lesions, operation technqiues and outcome are analysed and discussed. The analysis of cases with dural sinus injuries shows a high mortality rate (total mortality rate: 16 patients=41%; intra-operative mortality rate: 8 patients=20%).