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- Sachs, Lisbeth, 1938-
(author)
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Att leva med risk : fem kvinnor, gentester och kunskapens frukter
- 1998
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Book (other academic/artistic)abstract
- Fem kvinnor som har fått beskedet att de lever med en möjlig risk för ärftlig cancer.Samtliga bestämmer sig för att operera sig profylaktiskt,till exempel ta bort brösten.En insikt som är viktig inte minst när det handlar om sjukdom och hälsa.
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| 3. |
- Bjartell, Anders, et al.
(author)
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Distribution and tissue expression of semenogelin I and II in man as demonstrated by in situ hybridization and immunocytochemistry
- 1996
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In: Journal of Andrology. - 0196-3635. ; 17, s. 17-26
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Journal article (peer-reviewed)abstract
- Semenogelin I and II (Sgl, Sgll) are two separate gene products of chromosome 20 with extensive (80%) identity in primary structure. They are mainly responsible for immediate gel formation of freshly ejaculated semen. Degradation of Sgl and Sgll is due to the proteolytic action of prostate-specific antigen (PSA); it results within 5-15 minutes in liquefaction of semen and release of progressively motile spermatozoa. By means of cDNA cloning and Northern blots, Sgl and Sgll transcripts have previously been shown to be abundant in human seminal vesicles, but Sgll alone is suggested to be expressed at low levels in the epididymis. To characterize the expression and tissue distribution of Sgl and Sgll in greater detail, we produced monoclonal immunoglobulin Gs (lgGs for immunocytochemistry (lCC) and specific [35S]-, digoxigenin-, or alkaline phosphatase-labeled 30-mer antisense probes to Sgl and Sgll for in situ hybridization (lSH). Immunocytochemical staining for both Sgl and Sgll, and lSH detection of both Sgl and Sgll transcripts, were demonstrated in the cytoplasm of seminal vesicle epithelium. lSH showed Sgll alone to be expressed in the epithelium of the epididymal cauda. Neither lCC nor lSH yielded any evidence of Sgl or Sgll expression in caput or corpus epithelium or in any stromal cells of the epididymis. Consistent with our previous findings using polyclonal lgG, monoclonal anti-Sgll Sgll lgGs identified epitopes on the posterior head, midpiece, and tail of ejaculated spermatozoa. Spermatozoa in the epididymal cauda were also immunoreactive, but those in the caput or corpus region of the epididymis as well as those in the testis were negative. As shown by lCC, neither Sgl nor Sgll were expressed in the testis, the prostate, the female genital tract, or other normal human tissue specimens. Although the significance of Sg attachment to epididymal and ejaculated spermatozoa remains to be established, monoclonal anti-Sg lgG might prove useful in establishing the origin of seminal vesicle tissue components in prostate core biopsies or other biopsy specimens.
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- Gisselsson, D, et al.
(author)
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A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences
- 1998
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In: Cancer Letters. - 0304-3835 .- 1872-7980. ; 133:2, s. 34-129
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Journal article (peer-reviewed)abstract
- Dermatofibrosarcoma protuberans (DFSP) is a cutaneous tumour of borderline malignancy, the cytogenetic features of which include the translocation t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing material from 17q22 and 22q13. These rearrangements result in the COL1A1/PDGFB fusion gene. Here, we describe a case of DFSP displaying a ring chromosome 5 together with a large marker chromosome composed of chromosome 22 alphoid DNA, material from distal 12q and amplified COL1A1 and PDGFB sequences. This is the first case of DFSP with multiple copies of COL1A1 and PDGFB not confined to ring chromosomes, showing that DFSP is similar to other borderline malignant mesenchymal tumours, where rings and giant markers are alternative vehicles for amplified material.
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| 5. |
- Gisselsson, D, et al.
(author)
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Amplification of 12q13 and 12q15 sequences in a sclerosing epithelioid fibrosarcoma
- 1998
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In: Cancer Genetics and Cytogenetics. - 0165-4608. ; 107:2, s. 102-106
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Journal article (peer-reviewed)abstract
- Sclerosing epithelioid fibrosarcoma (SEF) is a recently described entity. It is a low-grade sarcoma that occurs primarily in the deep soft tissues of the extremities of adults. It may histologically simulate benign lesions such as fibroma and myxoma or malignancies such as sclerosing carcinoma and lymphoma, extraskeletal myxoid chondrosarcoma, clear cell sarcoma of tendons and aponeuroses, and synovial sarcoma, depending on the lesion's cellularity, degree of fibrosis, and amount of myxoid matrix. There are no previously published cytogenetic studies of this tumor. We found the karyotype 40-45,XY,add(9)(p13),add(10)(p11),-12,-13,-18,add(18)(q11),add(20)(q11) in a SEF of a 14-year-old boy, by using chromosome banding. Fluorescence in situ hybridization showed that both the add(10) and the add(18) contained amplified sequences from 12q13 and 12q15, including the HMGIC gene. Chromosome 18 material was present in the add(9) and terminally in the add(10). The karyotype of this case indicates that SEF is unrelated to extraskeletal myxoid chondrosarcoma, clear cell sarcoma, and synovial sarcoma. When compared with the findings in other soft tissue tumors such as well-differentiated liposarcoma and low-grade malignant fibrous histiocytoma, the chromosome banding and in situ hybridization data add support to the notion that SEF is a relatively low grade variant of fibrosarcoma.
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| 6. |
- Gisselsson, D, et al.
(author)
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Chromosomal organization of amplified chromosome 12 sequences in mesenchymal tumors detected by fluorescence in situ hybridization
- 1998
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In: Genes, Chromosomes and Cancer. - 1045-2257. ; 23:3, s. 203-212
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Journal article (peer-reviewed)abstract
- The chromosomal organization of amplified chromosome 12 sequences was studied with fluorescence in situ hybridization in six mesenchymal tumors: two osteosarcomas, one lipoma, two liposarcomas, and one fibrosarcoma. All except the fibrosarcoma contained ring and/or giant marker chromosomes. Amplification of chromosome 12 sequences, demonstrated with whole-chromosome paint in all cases, was confined to ring and giant marker chromosomes in four tumors. In one of the osteosarcomas and in the fibrosarcoma, amplified sequences were added to chromosome 12 and to chromosomes 10, 12, 18, and the Y chromosome, respectively. Hybridizations with single-copy probes demonstrated considerable inter- and intracellular variation in the arrangement of chromosome 12 sequences in ring and marker chromosomes. Amplification of 12q13-15 sequences, predominantly from the HMGIC-MDM2 region, was detected in all cases, but the two osteosarcomas also contained amplification of 12p material. This finding, combined with results from previous studies, indicates that 12p amplification is a feature distinguishing osteosarcomas from adipose tissue tumors. A novel finding was the presence of positive signals for chromosome 12 alpha-satellite sequences in ring and marker chromosomes in four cases. Rod chromosomes carrying amplified material, in particular those that were relatively stable, frequently exhibited chromosome 12 negative terminal segments; two of these, present in two separate cases, were shown by C-banding to contain constitutive heterochromatin. The significant intercellular heterogeneity in the number and structure of rings and giant markers in a subset of mesenchymal tumors could be explained by continuous recombination through breakage-fusion-bridge cycles. If so, this process will continue until broken ends become stabilized, for example by acquisition of telomeric segments from other chromosomes.
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| 7. |
- Petersson, C, et al.
(author)
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Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer families
- 1996
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In: Genes, Chromosomes and Cancer. - 1045-2257. ; 16:3, s. 185-188
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Journal article (peer-reviewed)abstract
- Short-term cultures of samples from eight prophylactic mastectomies from five unrelated women who were genetically predisposed to breast cancer were analyzed cytogenetically. Clonal chromosome abnormalities were detected in five breasts. Three samples from two women had aberrations involving the short arm of chromosome 3, with a breakpoint in 3p14 in common. Three samples from three women had rearrangements of 1q. Two of them, one of which also displayed a 3p14 rearrangement, shared a breakpoint in 1q41. Both 1q41 and, in particular, 3p14 have been reported to be rearranged frequently in malignant breast proliferations. Whether alterations of genes in these bands are essential in mammary tumorigenesis and, if so, whether they are equally important in sporadic and in hereditary cases remains to be explored.
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| 8. |
- Björklund, Margereth, 1950-, et al.
(author)
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Cancer patients' experiences of nurses' behaviour and health promotion activities : a critical incident analysis
- 1999
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In: European Journal of Cancer Care. - Oxford : Blackwell Publishing. - 0961-5423 .- 1365-2354. ; 8:4, s. 204-212
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Journal article (peer-reviewed)abstract
- Patients with head and neck cancer report several disease- and health-related problems before, during and a long time after completed treatment. Nurses have an important role in educating/supporting these patients about/through the disease and treatment so that they can attain well-being. This study describes the cancer patients' experiences of nurses' behaviour in terms of critical incidents after nurses had given them care to promote health. The study had a qualitative, descriptive design and the method used was the critical incident technique. Twenty-one informants from the Nordic countries diagnosed with head and neck cancer were strategically selected. It was explained to the informants what a critical incident implies before the interviews took place; this was defined as a major event of great importance, an incident, which the informants still remember, due to its great importance for the outcome of their health and well-being. The nurses' behaviour was examined, and critical incidents were involved in 208 cases-150 positive and 58 negative ones-the number of incidents varying between three and 20 per informant. The nurses' health promotion activities or lack of such activities based on the patients' disease, treatment and symptoms, consisted of informing and instructing the patients as well as enabling their participation. Personal consideration and the nurses' cognisance, knowledge, competence, solicitude, demeanour and statements of understanding were found to be important. Continuous health promotion nursing interventions were of considerable value for the majority of this group of cancer patients. Oncology nurses could reconfirm and update the care of head and neck cancer patients by including health promotion activities in individual care plans. By more frequent use of health promotion models, such as the empowerment model, the nurses could identify and focus on those individuals who needed to alter their life-style as well as tailor their approach towards these patient by setting goals for well-being and a healthy life-style.
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