Comparative genomic hybridization-aided unraveling of complex karyotypes in human hematopoietic neoplasias.

The information obtained by conventional cytogenetics (CC) in human leukemias is sometimes limited, in particular by complex karyotypes with many marker chromosomes. While CC is restricted to metaphases with a good quality, interphase fluorescence in situ hybridization (I-FISH) is also capable of analyzing specific anomalies in the interphase nuclei. Comparative genomic hybridization (CGH) gives additional information about the imbalanced karyotype changes in the whole genome. The aim of this study was to assess the contribution of CGH to the unraveling of complex GTG karyotypes, which are difficult to evaluate by banding analysis, and to compare these results with those by CC and FISH. Thirteen bone marrow samples and one sample obtained from peripheral blood of 13 leukemia patients were examined by CC, FISH and CGH. The GTG banding analysis showed complex karyotypes with many marker chromosomes. The most frequent abnormalities were numerical and structural aberrations on chromosomes 5 and 7. In 12 of the 14 samples, the CGH analysis was able to detect chromosomal imbalances with losses of material on chromosome 5 and 7 as the most frequent aberrations. In all 14 samples, additional FISH analyses were performed. For most of the studied neoplasias, a close correlation between CC, FISH and CGH data was observed. CGH was considerably helpful in adding additional information to classical karyotyping, if the low quality or number of metaphases was insufficient for a reliable CC analysis. Even in cases where whole chromosome painting could be applied, it added information on the breakpoints of the observed rearrangements. In only 2 of the studied 14 samples, neither CGH nor I-FISH could improve the result of karyotyping. CGH, nevertheless, can be regarded as a powerful additional technique in leukemias with unsuccessful CC, incomplete, or complex karyotypes with many marker chromosomes. A systematic analysis by three techniques such as CC, FISH and CGH guarantees an optimal genetic characterization of the neoplasias.

Treatment of a persistent postoperative chylothorax with somatostatin.

Chylothorax is a rare but potentially serious complication of pediatric cardiac operations. We report the case of a 4-month-old boy who underwent a Senning procedure for correction of D-transposition of the great vessels. A persistent postoperative chylothorax developed, necessitating continuous drainage, despite conservative treatment over 3 weeks. Thereafter, continuous somatostatin infusion for 14 days led to the reduction and finally cessation of chyle production. This treatment allowed early enteral feeding and avoided further surgical intervention.

[Development over 10 years of children with birth weight less than 1501 g]. / 10-Jahres-Entwicklung von Kindern mit Geburtsgewicht unter 1501 g.

170 Children born between 1971 and 73 and hospitalised at the neonatal intensive care unit of the Hospital for Children of the University of Basel because of very low birth weight and/or IRDS are re-examined at the age of 10 years. First analyses show high mortality amongst the children with very low birth weight (38% of 122 died up to the age of 10 years) and a physical development (weight and height) below that of a representative sample of children of the same age.