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Biomedical subjects

M Janz

Publications and source records attributed to M Janz.

7 recordsLinked to original sources
PubMed2006

Loss of the tissue-specific proapoptotic BH3-only protein Nbk/Bik is a unifying feature of renal cell carcinoma.

We report for the first time inactivation of a tissue-specific Bcl-2 homology domain 3 (BH3)-only protein as a common aspect in human cancer. In detail, we show that loss of the BH3-only protein natural born killer (Nbk)/Bcl-2-interacting killer (Bik) is a common feature of clear-cell renal cell carcinoma (RCC). While strong Nbk expression is found in the renal tubuli and the epithelial lining of the glomerula, a consistent loss of Nbk expression was observed in primary RCC tissue and RCC cell lines. Mutation of Nbk is, however, rare, whereas deletion of the Nbk gene at 22q13.2 is frequent. In addition to loss of heterozygosity (LOH), DNA methylation mediates transcriptional silencing of the Nbk gene. The conditional restoration of Nbk/Bik expression led to apoptotic death of RCC but not of nonmalignant renal epithelia. A broader expression analysis of RCC cell lines for BH3-only proteins revealed that loss of Nbk coincides with failure to express Bim, whereas Puma, Bid and BNIP3 are readily detectable and, in case of Puma, inducible by p53. These data delineate a role for defects in BH3-only proteins as tumor suppressors in RCC and may explain at the same time the impressive clinical apoptosis resistance of RCC.

Adult↗
PubMed1998

[Quality of life in chronic venous insufficiency (CVI). Results of a study with the newly developed Tübingen Questionnaire for measuring quality of life of patients with chronic venous insufficiency].

Across the boundaries of the medical specialties we have realized how important the concepts of quality of life and disease-related coping behavior are to understand the patients' subjective perception of the medical condition and its treatment. Although standardized instruments are already available for different medical indications and even in the related fields of peripheral vascular and cardiac diseases, phlebology still lacks standardized concepts for evaluating quality of life and/or disease-related coping behavior in patients with chronic venous insufficiency (CVI). We report on a newly developed instrument specifically designed for recording quality of life in patients with CVI. It not only meets the requirements of psychometric standards, but has also proven its applicability in clinical use. The "Tübingen Questionnaire for measuring Quality of Life in patients with CVI (TLQ-CVI)" and the results of a study on quality of life in 142 patients with various stages of chronic venous insufficiency are presented. It was possible to distinguish between Stage I/II and Stage III CVI patients with respect to parameters such as "leg complaints" and "day-to-day fears and worries". These convey clinically relevant insights into the patient's subjective perception of the disease and how they cope. The information gathered provides a set of reasonable target scores for clinical studies presently being carried out at various study centers in Germany incorporating the TLQ-CVI.

Activities of Daily Living↗
PubMed1995

Interphase cytogenetic analysis of distinct X-chromosomal translocation breakpoints in synovial sarcoma.

Synovial sarcomas show a specific translocation involving chromosomes X and 18, t(X;18)(p11.2;q11.2). Two distinct X-chromosomal breakpoints occur in different synovial sarcoma tumour samples. These breakpoints are located within two related genomic regions containing ornithine aminotransferase-like sequences, termed OATL1 and OATL2. Preliminary observations indicated the potential correlation of OATL1-associated breakpoints with biphasic tumours and OATL2-associated breakpoints with monophasic fibrous tumours. The present study uses interphase cytogenetics to investigate the nature of chromosomal aberrations in frozen synovial sarcoma tissue samples. Two-colour fluorescence in situ hybridization (FISH) was performed using probes specific for the centromeres of chromosome X or 18, along with yeast artificial chromosome probes corresponding to the distinct breakpoint regions on Xp. One monophasic epithelial and two monophasic fibrous synovial sarcomas showed an OATL2-associated breakpoint, while a biphasic tumour revealed a hybridization pattern indicating a breakpoint within the OATL1 region. These results confirm our previous suggestion of a relationship between alternative breakpoints in Xp11.2 and different histological phenotypes observed in synovial sarcomas. They also demonstrate the utility of the two-colour hybridization approach for the identification of chromosomal changes in interphase nuclei isolated from frozen tissues.

Chromosomes, Human, Pair 18↗
PubMed1994

Refined mapping of the human Ets-related gene Elk-1 to Xp11.2-p11.4, distal to the OATL1 region.

The gene for human Elk-1, an Ets-related transcription factor, has previously been localized to a region that lies on the short arm of chromosome X and that is involved in specific chromosomal translocations associated with synovial sarcoma and renal adenocarcinomas. We have used fluorescence in situ hybridization and a panel of tumor-derived somatic cell hybrids to refine the localization of Elk-1, in particular with regard to the rearrangements in these tumors. Elk-1 has been assigned to Xp11.2-p11.4, distal to the OATL1 region.

Animals↗
PubMed1994

Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint.

The chromosomal translocation (X;18)(p11.2;q11.2) represents the cytogenetic hallmark of human synovial sarcomas. Two related but distinct breakpoints within band Xp11.2 were reported previously by us and others using breakpoint-spanning YACs in conjunction with FISH. Interestingly, we found that the occurrence of these alternative breakpoints corresponds to the presence of different histologic characteristics of the tumors involved. Here we report the isolation, via subcloning of one of our YAC-derived cosmids, of probes which specifically hybridize to altered restriction fragments in tumor DNAs as compared to normal controls. By using a synovial sarcoma-derived der(X) containing somatic cell hybrid, which exhibits the more distal breakpoint, one of these aberrantly hybridizing fragments could be isolated via preparative gel electrophoresis. This fragment appears to contain chromosome X- and 18-derived sequences, as revealed by both FISH on normal metaphase spreads and Southern blot analysis of X- and 18-only somatic cell hybrids. We conclude that this genomic fragment is chimaeric in nature and contains the translocation breakpoint region. In addition, our results indicate that, in contrast to our findings on the X chromosome, a single locus on chromosome 18 may be involved in the development of different (sub)types of synovial sarcoma.

Animals↗
PubMed1992

Perception of knowledge what administrators and assistants know.

1. Nurse administrators are responsible for the delivery of health care in long-term care settings, and it is nursing assistants who provide the majority of care meeting the basic needs of elderly in these settings. 2. A difference in knowledge perception exists between nurse assistants and nurse administrators on information needed by nurse assistants in the home care and nursing home settings. 3. Nurse assistants would benefit from expanded nurse assistant training programs that would include not only the physical, but also the psychological and legal needs of the elderly. 4. Improving the knowledge base and the competencies of nurse assistants would improve quality of care in long-term care settings.

Educational Status↗