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- Immunosuppressive therapy in lupus nephritis: the Euro‐Lupus Nephritis Trial, a randomized trial of low‐dose versus high‐dose intravenous cyclophosphamide.Publication . Houssiau, F.A.; Vasconcelos, C.; D'Cruz, D.; Sebastiani, G.D.; Garrido Ed Ede, R.; Danieli, M.G.; Abramovicz, D.; Blockmans, D.; Mathieu, A.; Direskeneli, H.; Galeazzi, M.; Gül, A.; Levy, Y.; Petera, P.; Popovic, R.; Petrovic, R; Sinico, R.A.; Cattaneo, R.; Font, J.; Depresseux, G.; Cosyns, J.P.; Cervera, R.Arthritis Rheum. 2002 Aug;46(8):2121-31. Immunosuppressive therapy in lupus nephritis: the Euro-Lupus Nephritis Trial, a randomized trial of low-dose versus high-dose intravenous cyclophosphamide. Houssiau FA, Vasconcelos C, D'Cruz D, Sebastiani GD, Garrido Ed Ede R, Danieli MG, Abramovicz D, Blockmans D, Mathieu A, Direskeneli H, Galeazzi M, Gül A, Levy Y, Petera P, Popovic R, Petrovic R, Sinico RA, Cattaneo R, Font J, Depresseux G, Cosyns JP, Cervera R. Cliniques Universitaires St. Luc, Université Catholique de Louvain, Brussels, Belgium. houssiau@ruma.ucl.ac.be Comment in: Arthritis Rheum. 2003 May;48(5):1466; author reply 1466-7. Abstract OBJECTIVE: Glomerulonephritis is a severe manifestation of systemic lupus erythematosus (SLE) that is usually treated with an extended course of intravenous (IV) cyclophosphamide (CYC). Given the side effects of this regimen, we evaluated the efficacy and the toxicity of a course of low-dose IV CYC prescribed as a remission-inducing treatment, followed by azathioprine (AZA) as a remission-maintaining treatment. METHODS: In this multicenter, prospective clinical trial (the Euro-Lupus Nephritis Trial [ELNT]), we randomly assigned 90 SLE patients with proliferative glomerulonephritis to a high-dose IV CYC regimen (6 monthly pulses and 2 quarterly pulses; doses increased according to the white blood cell count nadir) or a low-dose IV CYC regimen (6 fortnightly pulses at a fixed dose of 500 mg), each of which was followed by AZA. Intent-to-treat analyses were performed. RESULTS: Followup continued for a median of 41.3 months in the low-dose group and 41 months in the high-dose group. Sixteen percent of those in the low-dose group and 20% of those in the high-dose group experienced treatment failure (not statistically significant by Kaplan-Meier analysis). Levels of serum creatinine, albumin, C3, 24-hour urinary protein, and the disease activity scores significantly improved in both groups during the first year of followup. Renal remission was achieved in 71% of the low-dose group and 54% of the high-dose group (not statistically significant). Renal flares were noted in 27% of the low-dose group and 29% of the high-dose group. Although episodes of severe infection were more than twice as frequent in the high-dose group, the difference was not statistically significant. CONCLUSION: The data from the ELNT indicate that in European SLE patients with proliferative lupus nephritis, a remission-inducing regimen of low-dose IV CYC (cumulative dose 3 gm) followed by AZA achieves clinical results comparable to those obtained with a high-dose regimen. PMID: 12209517 [PubMed - indexed for MEDLINE]
- Transferrin receptor 2 (TfR2) and HFE mutational analysis in non‐C282Y iron overload: identification of a novel TfR2 mutationPublication . MATTMAN, A.; HUNTSMAN, D.; LOCKITCH, G.; LANGLOIS, S.; BUSKARD, N.; RALSTON, D.; BUTTERFIELD, Y.; RODRIGUES, P.; JONES, S.; PORTO, G.; MARRA, M.; DE SOUSA, M.; VATCHER, G.Blood. 2002 Aug 1;100(3):1075-7. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, Butterfield Y, Rodrigues P, Jones S, Porto G, Marra M, De Sousa M, Vatcher G. SourceGenes, Elements, and Metabolism Program, Children and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada. Abstract Hereditary hemochromatosis (HH) is classically associated with a Cys282Tyr (C282Y) mutation of the HFE gene. Non-C282Y HH is a heterogeneous group accounting for 15% of HH in Northern Europe. Pathogenic mutations of the transferrin receptor 2 (TfR2) gene have been identified in 4 Italian pedigrees with the latter syndrome. The goal of this study was to perform a mutational analysis of the TfR2 and HFE genes in a cohort of non-C282Y iron overload patients of mixed ethnic backgrounds. Several sequence variants were identified within the TfR2 gene, including a homozygous missense change in exon 17, c2069 A-->C, which changes a glutamine to a proline residue at position 690. This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH.
- Opsoclonus myoclonus syndrome: how long are we going to go on researching?]Publication . Ramos, S.; Temudo, T.Rev Neurol. 2002 Aug 16-31;35(4):322-5. [Opsoclonus myoclonus syndrome: how long are we going to go on researching?] [Article in Spanish] Ramos S, Temudo T. Interna complementar de Pediatria. Serviço de Pediatria. Hospital Geral de Santo Antonio, Porto, Portugal. teresatemudo@netcabo.pt Abstract INTRODUCTION: Opsoclonus myoclonus is a rare neurological syndrome affecting children and adults, and which is characterised by a sudden onset of chaotic eye movements and myoclonias. In children it generally appears before the age of three as a parainfectious or paraneoplasic process; the type of tumour most frequently associated with this syndrome is the neuroblastoma. CASE REPORT: We report the case of a 22 month old girl who, after a febrile syndrome probably caused by a virus, began to present myoclonias in the upper and lower limbs, opsoclonus, a marked ataxic gait and extreme irritability. After ruling out neoplasia, oral corticotherapy was started and the neurological picture gradually improved. CONCLUSION: By reporting this clinical picture, our intention is to make the particular aspects of this neurological condition known, and highlight the need for neoplasias to be detected in time and for early treatment in order to prevent sequelae, especially when it appears as a paraneoplasic syndrome. PMID: 12235560 [PubMed - indexed for MEDLINE]