| 1. |
- Albin, Maria, et al.
(författare)
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Cytogenetic and morphologic subgroups of myelodysplastic syndromes in relation to occupational and hobby exposures.
- 2003
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Ingår i: Scandinavian Journal of Work, Environment and Health. - 0355-3140. ; 29:5, s. 378-387
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: This study investigated the association between occupational and hobby exposure and the risk of myelodysplastic syndromes (MDS) while focusing on differential patterns of clonal chromosome aberrations and morphologic subgroups. METHODS: A case-referent study was conducted with 330 MDS patients investigated cytogenetically in 1976-1993 (cases) and matched referents. Telephone interviews with either the person or a next-of-kin were used. The participation rate of the cases and referents was 85% and 60%, respectively. Information was obtained from the next-of-kin more often for the cases (88%) than for the referents (26%). Occupational hygienists assessed the exposure using interview data on worktasks and hobbies. Associations with disease risk were evaluated for 10 exposures with a logistic regression analysis. RESULTS: The investigated exposures were generally not associated with cytogenetically abnormal MDS. Effect estimates for specific cytogenetic or morphologic subgroups were generally imprecise. Occupational exposure to extremely low-frequency magnetic fields (EMF) was associated with MDS with a normal karyotype [odds ratio (OR) 2.0, 95% confidence interval (95% CI) 1.0-4.0]. The exposure-response association was consistent for intensity but inconclusive for duration. A decreased risk was observed for MDS, irrespective of karyotypic pattern, among farmers and farmhands (OR 0.53, 95% CI 0.35-0.81). CONCLUSIONS: Cytogenetically abnormal MDS was generally not associated with occupational or hobby exposure to known or suspected genotoxic agents. However, exposure prevalences and intensities were low for several agents. An association was suggested between occupational exposure to EMF and MDS with a normal karyotype. Biases due to differential information quality and selective participation cannot be ruled out.
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| 2. |
- Barbouti, Aikaterini, et al.
(författare)
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Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
- 2003
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048. ; 122:1, s. 85-93
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Tidskriftsartikel (refereegranskat)abstract
- Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported. Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC). A chronic phase was achieved after acute myeloid leukaemia induction therapy. Then, treatment with imatinib mesylate (600 mg/d) was initiated and the effect was assessed clinically as well as genetically, including by repeated interphase fluorescence in situ hybridization studies. Until d 71 of imatinib mesylate therapy, stable improvements in the clinical and laboratory features were noted, and the frequency of ABL1-rearranged peripheral blood cells decreased from 56% to 11%. At d 92, an additional t(12;13)(p12;q13), with the 12p breakpoint proximal to ETV6, was found. The patient relapsed into BC 126 d after the start of the imatinib mesylate treatment and succumbed to the disease shortly afterwards. No mutations in the tyrosine kinase domain of ABL1 of the ETV6/ABL1 fusion were identified in the second BC. However, whereas the ETV6/ABL1 expression was seemingly the same at diagnosis and at second BC, the expression of ETV6 was markedly lower at the second BC. This decreased expression of wild-type ETV6 may have been a contributory factor for the relapse.
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| 3. |
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| 4. |
- Persson, Magnus, et al.
(författare)
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A new non-invasive ultrasonic method for simultaneous measurements of longitudinal and radial arterial wall movements: first in vivo trial.
- 2003
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Ingår i: Clinical Physiology and Functional Imaging. - 1475-0961. ; 23:5, s. 247-251
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Tidskriftsartikel (refereegranskat)abstract
- During recent years, the radial movement of the arterial wall has been extensively studied, and measurements of the radial movement are now an important tool in cardiovascular research for characterizing the mechanical properties of the arterial wall. In contrast, the longitudinal movement of vessels has gained little or no attention as it has been presumed that this movement is negligible. With modern high-resolution ultrasound, it can, however, be seen that the intima-media complex of the arterial wall moves not only in the radial direction, but also in the longitudinal direction during pulse-wave propagation. This paper describes a new non-invasive ultrasonic method that is able to measure simultaneously two dimensionally arterial vessel wall movements. The method is demonstrated in a limited in vivo trial. Results from the in vivo trial show that, apart from the well-known radial movement, there is a distinct longitudinal movement in the human common carotid artery with, in this case, the intima-media complex moving substantially as compared with the region of the tunica adventitia. Two-dimensional evaluation of the vessel-wall movements, taking not only the radial movement, but also the longitudinal movement into account, may provide novel information of importance in the evaluation of vessel-wall function.
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| 5. |
- Persson, Magnus, et al.
(författare)
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Non-invasive measurement of arterial longitudinal movement
- 2002
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Ingår i: Proceedings of the IEEE Ultrasonics Symposium. - 1051-0117. ; 2, s. 1783-1786
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Konferensbidrag (refereegranskat)abstract
- In arterial vessel wall characterisation the longitudinal movements of vessels have gained little or no attention. It has been presumed that the arterial vessels move very little in the longitudinal direction. With modern high resolution ultrasound it can, however, be seen that arterial vessels move not only in the circumferential, but also in longitudinal direction. This paper describes a non-invasive, ultrasound based method which estimates the longitudinal and the circumferential movement, respectively. The method is demonstrated in a limited in vivo study of the common carotid artery. Results show that, apart from the well known circumferential movement, there is a distinct longitudinal movement.
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| 7. |
- Storlazzi, Clelia T, et al.
(författare)
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Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies
- 2004
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 13:14, s. 1479-1485
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Tidskriftsartikel (refereegranskat)abstract
- Double minutes (dmin), the cytogenetic hallmark of genomic amplification, are found in ∼1% of karyotypically abnormal acute myelold leukemias (AML) and myelodysplastic syndromes (MDS). The MYC gene at 8q24 has been reported to be amplified in the majority of the cases, and generally it has been assumed that MYC is the target gene. However, only a few studies have focused on the extent of the amplicon or on the expression patterns of the amplified genes. We have studied six cases (five AML and one MDS) with MYC-containing dmin. Detailed fluorescence in situ hybridization analyses identified a common 4.3 Mb amplicon, with clustered proximal and distal breakpoints, harboring eight known genes (C8FW, NSE2, POU5FLC20, MYC, PVT1, AK093424, MGC27434 and MLZE). The corresponding region was deleted in one of the chromosome 8 homologues in five of the six cases, suggesting that the dmin originated through extra replication (or loop-formation)-excision-amplification. Northern blot analysis revealed that MYC was not overexpressed. Instead, the C8FW gene, encoding a phosphoprotein regulated by mitogenic pathways, displayed increased expression. These results exclude MYC as the target gene and indicate that overexpression of C8FW may be the functionally important consequence of 8q24 amplicons in AML and MDS. © Oxford University Press 2004, all rights reserved.
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