000 | 02741na a2200253 4500 | ||
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003 | PC10167 | ||
005 | 20180417105937.0 | ||
008 | 130622s2012 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aspa | ||
100 |
_aCaro Teller, José Manuel _91916 _eFarmacia |
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_aAlioto, Daniel _91928 _eFarmacia |
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_aSerrano Garrote, Olga _91918 _eFarmacia |
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_aFerrari Piquero, José Miguel _9872 _eFarmacia |
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245 | 0 | 0 |
_aExperiencia en el uso de canakinumab en el Síndrome de Activación Macrofágica: a propósito de un caso. _h[artículo] |
260 |
_bRevista de la OFIL, _c2017 |
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300 | _a27(1):96-98. | ||
500 | _aFormato Vancouver: Caro-Teller JM, Alioto D, Serrano-Garrote O, Ferrari-Piquero JM Experiencia en el uso de canakinumab en el Síndrome de Activación Macrofágica: a propósito de un caso. Rev. OFIL. 2017;27(1):96-98. | ||
504 | _aContiene 10 referencias | ||
520 | _aMitochondrial complex I is the largest multi-protein enzyme complex of the oxidative phosphorylation system. Seven subunits of this complex are encoded by the mitochondrial and the remainder by the nuclear genome. We review the natural disease course and signs and symptoms of 130 patients (four new cases and 126 from literature) with mutations in nuclear genes encoding structural complex I proteins or those involved in its assembly. Complex I deficiency caused by a nuclear gene defect is usually a non-dysmorphic syndrome, characterized by severe multi-system organ involvement and a poor prognosis. Age at presentation may vary, but is generally within the first year of life. The most prevalent symptoms include hypotonia, nystagmus, respiratory abnormalities, pyramidal signs, dystonia, psychomotor retardation or regression, failure to thrive, and feeding problems. Characteristic symptoms include brainstem involvement, optic atrophy and Leigh syndrome on MRI, either or not in combination with internal organ involvement and lactic acidemia. Virtually all children ultimately develop Leigh syndrome or leukoencephalopathy. Twenty-five percent of the patients died before the age of six months, more than half before the age of two and 75 % before the age of ten years. Some patients showed recovery of certain skills or are still alive in their thirties . No clinical, biochemical, or genetic parameters indicating longer survival were found. No clear genotype-phenotype correlations were observed, however defects in some genes seem to be associated with a better or poorer prognosis, cardiomyopathy, Leigh syndrome or brainstem lesions. | ||
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_9320 _aServicio de Farmacia Hospitalaria |
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_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/1/pc10167.pdf _ySolicitar documento |
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_c10167 _d10167 |