A screening method based on multiplexed automated fragment length analysis of polymerase chain reaction products was used to identify germline mutations in the RB1 gene. By screening 106 unrelated patients with hereditary retinoblastoma, 20 small deletions (1-18 bp) and seven insertions (1-5 bp) were identified. When collating our data with reported mutations, recurrence of small length mutations was observed at nine sites within the RB1 gene. Most of these contained monotonic runs or direct repeats embedded in homocopolymer tracts. While the majority of mutations resulted in premature truncation, two mutations caused an in-frame loss of F755 and G540 to E545, respectively. A genotype-phenotype comparison of patients carrying different small length mutations did not reveal any consistent relation. Particularly, the two patients with in-frame mutations showed a high number of tumours consistent with regular-penetrance retinoblastoma.

We have cloned and sequenced the murine homologue of the human EXT1 gene. At the protein level, these genes show almost complete identity as divergence is limited to only 5 amino acid positions that are scattered about the whole sequence. In addition, similarity searches identified a protein from chromosome III of C. elegans that shows significant similarity to the human and murine EXT/Ext genes. Using high resolution backcross mapping, the murine Ext1 was mapped at 26.55 cM between D15Mit143 and D15Mit153 on mouse chromosome 15. Therefore, Ext1 is part of an evolutionarily conserved linkage group including SDC2/Hspgl, TKHR/Trhr, EXT1/Extl, MYC/Myc, and TG/Tgn.

Retinoblastomas are the most frequent primary malignant intraocular tumours worldwide. Conventional and new treatment modalities have significantly improved the chance for survival and preservation of vision. The armamentarium of treatment modalities has been broadened recently by new techniques like intraarterial chemotherapy, which still has to be considered as experimental since long-term follow-up results are not yet available. The excellent prognosis for retinoblastomas in countries with a well developed health system is contrasted by the miserable prognosis for retinoblastomas in developing countries, which must be changed by a joint effort of all centres.

Die Anlage von zentralvenösen Hämodialysekathetern (permanent oder temporär) ist in vielen Dialysezentren mit Anbindung an eine Klinik in Deutschland Alltag und seit Langem etablierter Standard. In der Literatur sind in den letzten Jahren verschiedene Probleme sowie teils letale Komplikationen ausführlich beschrieben worden. Während der Prozedur, jedoch allerspätestens im Anschluss an eine erfolgte Katheteranlage muss stets eine Lagekontrolle durchgeführt werden, um Katheterfehllagen sowie eventuell durch die Prozedur der Anlage entstandene Komplikationen wie beispielsweise einen Pneumothorax sicher auszuschließen zu können. Fehllagen zentralvenöser Katheter – definiert als arterielle, atriale, extravasale oder venöse Positionierung außerhalb der Vena cava superior – treten mit einer Häufigkeit von etwa 6,8 % auf 1. Im Folgenden möchten wir gerne die gängigsten Möglichkeiten zur Lageevaluation vorstellen, die sich in der Praxis bewährt haben.

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