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- Weinreb, Neal J, et al.
(author)
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Gaucher disease type 1 : revised recommendations on evaluations and monitoring for adult patients.
- 2004
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In: Semin Hematol. - 0037-1963. ; 41:4 Suppl 5, s. 15-22
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Journal article (other academic/artistic)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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- Gustafsson, JA, et al.
(author)
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The latest on ER-β in breast cancer
- 2002
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In: EUROPEAN JOURNAL OF CANCER. - 0959-8049. ; 38, s. S81-S81
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Conference paper (other academic/artistic)
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- Hillier, Ladeana W, et al.
(author)
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Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution
- 2004
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In: Nature. - 0028-0836 .- 1476-4687. ; 432:7018, s. 695-716
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Journal article (peer-reviewed)abstract
- We present here a draft genome sequence of the red jungle fowl, Gallus gallus. Because the chicken is a modern descendant of the dinosaurs and the first non-mammalian amniote to have its genome sequenced, the draft sequence of its genome--composed of approximately one billion base pairs of sequence and an estimated 20,000-23,000 genes--provides a new perspective on vertebrate genome evolution, while also improving the annotation of mammalian genomes. For example, the evolutionary distance between chicken and human provides high specificity in detecting functional elements, both non-coding and coding. Notably, many conserved non-coding sequences are far from genes and cannot be assigned to defined functional classes. In coding regions the evolutionary dynamics of protein domains and orthologous groups illustrate processes that distinguish the lineages leading to birds and mammals. The distinctive properties of avian microchromosomes, together with the inferred patterns of conserved synteny, provide additional insights into vertebrate chromosome architecture.
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5. |
- Carolipio, E. M., et al.
(author)
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The toroidicity-induced Alfven eigenmode structure in DIII-D : Implications of soft x-ray and beam-ion loss data
- 2001
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In: Physics of Plasmas. - : AIP Publishing. - 1070-664X .- 1089-7674. ; 8:7, s. 3391-3401
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Journal article (peer-reviewed)abstract
- The internal structure of the toroidicity-induced Alfven eigenmode (TAE) is studied by comparing soft x-ray profile and beam ion loss data taken during TAE activity in the DIII-D tokamak [W. W. Heidbrink , Nucl. Fusion 37, 1411 (1997)] with predictions from theories based on ideal magnetohydrodynamic (MHD), gyrofluid, and gyrokinetic models. The soft x-ray measurements indicate a centrally peaked eigenfunction, a feature which is closest to the gyrokinetic model's prediction. The beam ion losses are simulated using a guiding center code. In the simulations, the TAE eigenfunction calculated using the ideal MHD model acts as a perturbation to the equilibrium field. The predicted beam ion losses are an order of magnitude less than the observed similar to6%-8% losses at the peak experimental amplitude of deltaB(r)/B(0)similar or equal to2-5x10(-4).
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- Cheng, C., et al.
(author)
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Optimization and elimination of black center of a large-bore copper vapor laser
- 2000
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In: Wuli xuebao. - : Acta Physica Sinica, Chinese Physical Society and Institute of Physics, Chinese Academy of Sciences. - 1000-3290. ; 49:7, s. 1267-1272
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Journal article (peer-reviewed)abstract
- Applying a genetic algorithm and taking the maximum output as an objective funct ion, a copper vapor laser with about 100W output is optimized and designed for reducing the “black center” of the radial laser intensity. The “black center ”, which results from the skin effect of the continuing pulsed field, is reduce d and the output is increased significantly by optimizing the laser tube radius- length and the LC circuit parameters.
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