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Biomedical subjects

R Sijmons

Publications and source records attributed to R Sijmons.

4 recordsLinked to original sources
PubMed2000

Inclusion of malignant fibrous histiocytoma in the tumour spectrum associated with hereditary non-polyposis colorectal cancer.

Sarcomas, including the malignant fibrous histiocytomas (MFHs), are not known to be part of the tumour spectrum of hereditary non-polyposis colorectal cancer (HNPCC) as epidemiologically established. Therefore, occurrence of MFH in an HNPCC family may very well be coincidental. HNPCC is associated with germline mutations in DNA mismatch repair genes, including the MSH2 gene. We analysed an MFH diagnosed in a 45-year-old male HNPCC patient carrying a germline MSH2 mutation for HNPCC-associated molecular characteristics, to investigate a possible relationship between the tumour and that mutation. DNA analysis revealed microsatellite instability and loss of one MSH2 copy, and immunohistochemistry showed absence of nuclear MSH2 protein staining. To investigate whether this is a common finding in MFH, microsatellite instability and nuclear MSH2 protein staining was tested for in 5 and 6 sporadic MFHs, respectively. None showed microsatellite instability and all stained positively for MSH2. Together, these findings show that in rare cases, MFH may be part of the HNPCC tumour spectrum.

Adenocarcinoma↗
PubMed2000

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene.

Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome characterized by predisposition for bilateral and multi-centric hemangioblastoma in the retina and central nervous system, pheochromocytoma, renal cell carcinoma, and cysts in the kidney, pancreas, and epididymis. We describe five families for which direct sequencing of the coding region of the VHL gene had failed to identify the family-specific mutation. Further molecular analysis revealed deletions involving the VHL gene in each of these families. In four families, partial deletions of one or more exons were detected by Southern blot analysis. In the fifth family, FISH analysis demonstrated the deletion of the entire VHL gene. Our results show that (quantitative) Southern blot analysis is a sensitive method for detecting germline deletions of the VHL gene and should be implemented in routine DNA diagnosis for VHL disease. Our data support the previously established observation that families with a germline deletion have a low risk for pheochromocytoma. Further unraveling of genotype-phenotype correlations in VHL disease has revealed that families with a full or partial deletion of the VHL gene exhibit a phenotype with a preponderance of central nervous system hemangioblastoma.

Adolescent↗
PubMed2000

The electronic mood device: design, construction, and application.

The electronic mood device (EMD) is designed to help answer questions about the variability and dynamics of emotions. It is a small, portable instrument used for repeated recording of moods and feelings. Both construction and operation of the EMD are described. The EMD can best be conceived of as an electronic mood adjective checklist. Persons using the EMD are signaled at designated (e.g., hourly) or random intervals to register their mood or feelings. Paper and pencil are not required. An application is given. It shows how feelings vary within and between persons and during the day. It is concluded that the EMD offers several advantages over paper-and-pencil instruments. Retrospective use is impossible. Timing and registration are accurate. Data handling is fast. Potential future applications are suggested.

Adult↗