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651.
Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion 总被引:1,自引:0,他引:1
Linthorst GE De Rie MA Tjiam KH Aerts JM Dingemans KP Hollak CE 《The British journal of dermatology》2004,150(3):575-577
Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented. 相似文献
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The Orphan Drugs Act has been officially implemented in all countries of the European Union since the year 2000. The Act aims to promote the development of treatments for rare diseases (prevalence < 5:10,000). Successful therapies for such diseases are granted market-monopoly for 10 years, during which no me-too products are allowed. There are problems concerning approval and reimbursement. Drugs already in use can also be registered as orphan drugs for a specific indication. In addition to this, European approval for the market authorization of new drugs does not automatically mean that the costs of the drug are reimbursed within the Netherlands, whereas that might well be the case in other EU countries. However, a faster procedure with respect to the reimbursement of drug costs in the Netherlands may not lead to the responsibilities for the carrying out of additional trials being transferred to those handling the treatment. 相似文献
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Pluda JM; Yarchoan R; Smith PD; McAtee N; Shay LE; Oette D; Maha M; Wahl SM; Myers CE; Broder S 《Blood》1990,76(3):463-472
We investigated the effects of recombinant human granulocyte-macrophage colony-stimulating factor (rGM-CSF) administered by the subcutaneous route, first alone and then alternating with azidothymidine (AZT), in leukopenic patients with severe human immunodeficiency virus (HIV) infection. Ten patients with acquired immunodeficiency syndrome (AIDS) or related disorders, five of whom could not tolerate conventional doses of AZT, were administered rGM-CSF subcutaneously for 12 days. They then were administered an alternating regimen using AZT for 1 week, followed by 5 days of subcutaneous rGM-CSF and 2 days without any medication. During the initial 12 days of GM-CSF administration, there was an increase in the mean white blood cell (WBC) value. In addition, rGM-CSF stimulated circulating monocytes as evidenced by an increase in superoxide anion production and expression of surface HLA-DR antigen. However, at the same time rGM-CSF increased the serum HIV p24 antigen in each of the six evaluable patients from 189 x/divided by 2.02 pg/mL (geometric mean x/divided by SEM) at entry to 375 x/divided by 2.11 pg/mL (P less than .05). During the subsequent period of alternating AZT and rGM-CSF treatment, serum HIV p24 antigen fell below the day 14 value in most patients, particularly after the weeks of AZT administration. The mean T4 cell value increased in patients who had not previously received AZT, but generally did not change in those who had prior AZT exposure. Hematologic toxicity appeared to be somewhat reduced compared with continuous full-dose AZT therapy, and two patients with previous AZT hematologic toxicity tolerated this alternating regimen for 25 weeks. Additional regimens simultaneously combining these two agents are worth exploring. 相似文献
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The methodology of sodium-23 (Na-23) imaging is reported in relationship to the physiological factors that determine the chemical environment of the Na-23 nucleus. Contrast resolution is given as a function of imaging time and spatial resolution. Data showing the optimal relaxation time for sodium imaging are given, and the linear quantitative relationship between sodium concentration and voxel intensity for our imaging system is confirmed. The major problem facing in vivo sodium imaging is the ability to differentiate intracellular sodium from extracellular sodium. The sodium in blood serum (extracellular) and packed red blood cells (intracellular) both exhibit biexponential T2 decay. These results indicate that T2 measurements alone will be insufficient for discriminating extracellular from intracellular sodium. Instead, other methods based on the underlying physiological properties of in vivo sodium imaging, such as the diffusion coefficient, will be necessary to truly separate extracellular from intracellular sodium. 相似文献