0000000000116639
AUTHOR
F Bahlmann
Rho GTPases in human breast tumours: expression and mutation analyses and correlation with clinical parameters
In the present study, we addressed the question of a putative relevance of Rho proteins in tumour progression by analysing their expression on protein and mRNA level in breast tumours. We show that the level of RhoA, RhoB, Rac1 and Cdc42 protein is largely enhanced in all tumour samples analysed (n=15) as compared to normal tissues originating from the same individual. The same is true for 32P-ADP-ribosylation of Rho proteins which is catalysed by Clostridium botulinum exoenzyme C3. Also the amount of Rho-GDI and ERK2 as well as the level of overall 32P-GTP binding acvitity was tumour-specific elevated, yet to a lower extent than Rho proteins. Although the amount of Rho proteins was enhance…
743 Lysosomal Storage Disorders in Non-Immunological Hydrops Fetalis - More Common than Assumed?
Background Although non immunological hydrops fetalis (NIHF) is a very rare disorder, the disturbance accounts for a disproportionate share (3%) of overall mortality in the perinatal period. Lysosomal storage disorders (LSD) are only exceptionally considered to be the cause of NIHF. The reported incidence is about 1%. On the other hand, in about 18% of all cases, NIHF is classified as idiopathic. Patients and methods We report four cases of transient NIHF due to LSD and reviewed the literature for LSD associated with NIHF. Results At present, 12 different LSD are described to be associated with NIHF. The majority of reported patients already had a family history of NIHF, which had not been …
Sonographic Prognostic Factors in Prenatal Diagnosis of SCT
<i>Objective:</i> A subset of fetuses with sacrococcygeal teratomas (SCT) develops hydrops caused by high-output heart failure. Identification of fetuses at risk for hydrops is important because surgical intervention may reverse the pathophysiology of the disease. The aim of this study was to evaluate sonographic prognostic factors regarding tumor morphology and vascularity associated with the development of hydrops in utero. <i>Methods:</i> Over a 10-year period, we identified 7 fetuses with SCT diagnosed antenatally and managed at the University of Mainz. We retrospectively reviewed the charts of mothers and infants and recorded data on prenatal diagnosis, tumor si…