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- Weinreb, Neal J, et al.
(författare)
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Gaucher disease type 1 : revised recommendations on evaluations and monitoring for adult patients.
- 2004
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Ingår i: Semin Hematol. - 0037-1963. ; 41:4 Suppl 5, s. 15-22
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- For patients with type 1 Gaucher disease, challenges to patient care posed by clinical heterogeneity, variable progression rates, and potential permanent disability that can result from untreated or suboptimally treated hematologic, skeletal, and visceral organ involvement dictate a need for comprehensive, serial monitoring. An updated consensus on minimum recommendations for effective monitoring of all adult patients with type 1 Gaucher disease has been developed by the International Collaborative Gaucher Group (ICGG) Registry coordinators. These recommendations provide a schedule for comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects of this disease. The initial assessment should include confirmation of deficiency of beta-glucocerebrosidase, genotyping, and a complete family medical history. Other assessments to be performed initially and at regular intervals include a complete physical examination, patient-reported quality of life using the SF-36 survey, and assessment of hematologic (hemoglobin and platelet count), visceral, and skeletal involvement, and biomarkers. Specific radiologic imaging techniques are recommended for evaluating visceral and skeletal pathology. All patients should undergo comprehensive regular assessment, the frequency of which depends on treatment status and whether therapeutic goals have been achieved. Additionally, reassessment should be performed whenever enzyme therapy dose is altered, or in case of significant clinical complication.
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| 5. |
- d'Orgeville, Céline, et al.
(författare)
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Preliminary results of the 2001-2002 Gemini sodium monitoring campaign at Cerro Tololo, Chile
- 2003
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Ingår i: Adaptive Optical System Technologies II. Edited by Wizinowich, Peter L.; Bonaccini, Domenico. Proceedings of the SPIE, Volume 4839, pp. 492-503 (2003).. ; 4839:Part 2, s. 492-503
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Konferensbidrag (refereegranskat)abstract
- In the near future several astronomical observatories in Chile areplanning to use sodium laser guide stars to increase the sky coverageprovided by their adaptive optics facilities. Knowledge of themesospheric sodium layer behavior is crucial to predict the performanceof future laser guide star adaptive optics systems. Whereas the sodiumlayer has been observed quite extensively at several locations, many ofthem in the Northern Hemisphere, very little measurements have been madein Chile. The Gemini Observatory therefore initiated a year-long sodiummonitoring campaign at the Cerro Tololo Inter-American Observatorylocated only a few kilometers away from the Gemini South telescope wherea conventional laser guide star facility will be offered to thecommunity in 2005, soon to be upgraded to a multi-conjugate adaptiveoptics system with five laser guide stars. This paper reports on thelaser-based sodium monitoring experimental set up and data reductiontechniques, and presents some preliminary results on the sodium columndensity and layer altitude variations observed from February 2001 toFebruary 2002. Implications for the Gemini South Adaptive Optics systemexpected performance are presented as well.
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| 6. |
- Ekblad, Eva, et al.
(författare)
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Innervation of the small intestine.
- 2002
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Ingår i: Biology of the Intestine in Growing Animals. - 9780444509284 - 0444509283 ; , s. 235-235
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Bokkapitel (övrigt vetenskapligt/konstnärligt)abstract
- Intestinal activities are controlled and co-ordinated by way of neuronal reflexes involving both extrinsic and intramural neurones, the enteric nervous system (ENS). This review focuses on the organisation, development and functional properties of the intestinal innervation and of the neurotransmitters utilised.
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| 7. |
- Ermann, Joerg, et al.
(författare)
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CD4+CD25+ T cells facilitate the induction of T cell anergy
- 2001
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Ingår i: Journal of Immunology. - Rockville Pike, Bethesda, MD : The American Association of Immunologists, Inc.. - 0022-1767 .- 1550-6606. ; 167:8, s. 4271-4275
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Tidskriftsartikel (refereegranskat)abstract
- T cell anergy is characterized by the inability of the T cell to produce IL-2 and proliferate. It is reversible by the addition of exogenous IL-2. A similar state of unresponsiveness is observed when the proliferative response of murine CD4+CD25- T cells is suppressed in vitro by coactivated CD4+CD25+ T cells. We have developed a suppression system that uses beads coated with anti-CD3 and anti-CD28 Abs as surrogate APCs to study the interaction of CD4+CD25+ and CD4+CD25- T cells in vitro. CD4+CD25+ T cell-induced suppression, in this model, was not abrogated by blocking the B7-CTLA-4 pathway. When the CD4+CD25- T cells were separated from the CD4+CD25+ suppressor cells after 24 h of coactivation by the Ab-coated beads, the CD4+CD25- T cells were unable to proliferate or to produce IL-2 upon restimulation. The induction of this anergic phenotype in the CD4+CD25- T cells correlated with the up-regulated expression of the gene related to anergy in lymphocytes (GRAIL), a novel anergy-related gene that acts as a negative regulator of IL-2 transcription. This system constitutes a novel mechanism of anergy induction in the presence of costimulation.
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| 9. |
- Moller, P, et al.
(författare)
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Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy
- 2002
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136. ; 101:6, s. 555-559
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Tidskriftsartikel (refereegranskat)abstract
- Dedicated clinics have been established for the early diagnosis and treatment of women at risk for inherited breast cancer, but the effects of such interventions are currently unproven. This second report on prospectively diagnosed inherited breast cancer from the European collaborating centres supports the previous conclusions and adds information on genetic heterogeneity and the effect of oophorectomy. Of 249 patients, 20% had carcinoma in situ (CIS), 54% had infiltrating cancer without spread (CaNO) and 26% had cancer with spread (CaN+). Five-year survival was 100% for CIS, 94% for CaNO and 72% for CaN+ (p = 0.007). Thirty-six patients had BRCA1 mutations, and 8 had BRCA2 mutations. Presence of BRCA1 mutation was associated with infiltrating cancer, high grade and lack of oestrogen receptor (p < 0.05 for all 3 characteristics). For BRCA1 mutation carriers, 5-year survival was 63% vs. 91% for noncarriers (p = 0.04). For CaNO patients, mutation carriers had 75% S-year disease-free survival vs. 96% for noncarriers (p = 0.01). Twenty-one of the mutation carriers had undergone prophylactic oophorectomy, prior to or within 6 months of diagnosis in 13 cases. All but I relapse occurred in the I S who had kept their ovaries, (p < 0.01); no relapse occurred in those who had removed the ovaries within 6 months (p = 0.04) Contralateral cancer was more frequently observed in mutation noncarriers, but this finding did not reach statistical significance. Our findings support the concept that BRCA1 cancer is biologically different from other inherited breast cancers. While current screening protocols appear satisfactory for the majority of women at risk of familial breast cancer, this may not be the case for BRCA1 mutation carriers. The observed effect of oophorectomy was striking.
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