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U Van Haelst

Publications and source records attributed to U Van Haelst.

3 recordsLinked to original sources

Complex composition and co-amplification of SAS and MDM2 in ring and giant rod marker chromosomes in well-differentiated liposarcoma.

Extra abnormal chromosomes (rings and giant rods) containing chromosome 12 sequences are characteristic of well-differentiated liposarcoma (WDLPS). By whole chromosome painting we found in 6 WDLPS that minimally 5 chromosomes had contributed to the formation of the extra abnormal chromosomes. To the constant chromosome 12 contribution, sequences were variably added from chromosomes 1, 4, and 16. Material from chromosomes 1, 4, and 12 was identified by painting in interphase nuclear projections ("blebs") and in micronuclei consistent with the concept that blebs are precursors to micronuclei. The complexity of the mechanisms generating the extra abnormal chromosomes in WDLPS was also attested to by the diversity and, in some cases, intricacy of the patterns of fluorescence. To begin to fathom the function of the extra abnormal chromosomes we examined the amplification of genes, including SAS, MDM2, and GADD153/CHOP, known to be in the region 12q13-14. SAS and MDM2 demonstrated constant co-amplification. GADD153/CHOP, which is critically rearranged in myxoid liposarcoma, was not amplified in WDLPS.

Aged

Nodular regenerative hyperplasia of the liver: an important cause of portal hypertension in non-cirrhotic patients.

In our hospital over the last 10 years a diagnosis of nodular regenerative hyperplasia was made for 13 patients. Sixty-nine percent of these patients had portal hypertension, representing 27% of all our patients with portal hypertension and a non-cirrhotic liver. Nodular regenerative hyperplasia was the second most frequent cause of portal hypertension in patients without cirrhosis. To make the diagnosis, a reticulin staining of a surgical biopsy is most helpful. However, the characteristic derangement of the liver architecture on histology may still be overlooked. In this study a suggestive relation was found between malignant disease (multiple myeloma, chronic myelogenous leukaemia, Leydig cell tumour and Hodgkin's disease), the use of cytotoxic or immunosuppressive drugs and nodular regenerative hyperplasia. Furthermore, a high rate of symptomatic nodular regenerative hyperplasia was observed in patients following kidney transplantation. Liver function abnormalities developed in these patients after a period ranging from 8 months to 3 years of immunosuppressive- or chemotherapy. These liver function abnormalities were, however, usually mild. Since hepatic encephalopathy is not likely to develop in these patients with nodular regenerative hyperplasia a decompressive shunt operation is a good alternative approach, if not the treatment of choice, for the prevention of recurrent variceal haemorrhage.

Adolescent

Hypochondrogenesis; an additional case.

In a case of hypochondrogenesis, abnormal fat deposits were found in the chondrocytes, by anatomopathological and by ultrastructural examination. In the cultured fibroblast we were unable to demonstrate abnormal lipid loading. Our case could be isolated from other types of lethal congenital chondrodysplasias--especially the lethal type of spondyloepiphyseal dysplasia congenita--by microscopic and ultrastructural investigations.

Achondroplasia