RESUMEN
Aim: To evaluate glatiramer acetate (GA) or IFN-ß effects on quality of life (QoL) in people with relapsing/remitting multiple sclerosis (PwRRMS) in Greece. Methods: A prospective, practice-based study. QoL/function/symptoms were assessed by seven questionnaires/scales. Results: Significant increases in Short Form-36 (SF-36) health survey scores occurred with GA in four of the eight domains and three of the eight domains at 6 and 12 months, respectively, versus baseline. Similar and significant SF-36 score improvements occurred with GA in treatment-naive PwRRMS. SF-36 scores were unaffected in GA-treated, IFN-ß treatment-experienced PwRRMS, or with IFN-ß versus baseline. Slight improvements in fatigue and sexual satisfaction were evident (6 months). No deteriorations were seen in the other four instruments. Conclusion: The findings show that 12-month treatment with GA, but not IFN-ß, improved certain QoL parameters in treatment-naive PwRRMS.
People with relapsing/remitting multiple sclerosis (PwRRMS) are treated with drugs, for example, glatiramer acetate (GA) or IFN-ß. We checked if these drugs improved quality of life (QoL) in PwRRMS in Greece. QoL was measured by seven questionnaires, asking many questions on aspects of life. One survey showed significant improvements with GA treatment in almost half of the question groups. Similar improvements in this survey were seen with GA in patients who had no other previous treatments. No changes were seen in GA-treated PwRRMS who previously received IFN-ß, or treated with IFN-ß alone. Slight improvements in fatigue and sexual satisfaction were seen. No QoL deteriorations were seen in the other four questionnaires. Twelve months of GA treatment, but not IFN-ß, improved certain QoL parameters in treatment-naive PwRRMS.
Asunto(s)
Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Humanos , Acetato de Glatiramer/uso terapéutico , Calidad de Vida , Esclerosis Múltiple/tratamiento farmacológico , Grecia , Interferones/uso terapéutico , Estudios Prospectivos , Péptidos/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Interferón beta , Inmunosupresores/uso terapéuticoRESUMEN
Lysosomal protein 2 (LIMP2), the product of the scavenger receptor class B member 2 (SCARB2) gene, is a ubiquitously expressed transmembrane protein that is the mannose-6-phosphate-independent receptor for glucocerebrosidase (ß-GCase); a deficiency in this protein causes Gaucher disease. Several studies have shown a link between mutations in the ß-GCase gene and diseases characterized clinically by Parkinsonism and by the presence of Lewy body-related pathology. We hypothesized that genetic variants in the SCARB2 gene could be risk factors for Parkinson's disease (PD). A candidate-gene study of 347 Greek patients with sporadic PD and 329 healthy controls was conducted to investigate the association between 5 polymorphisms in the SCARB2 gene (rs6824953, rs6825004, rs4241591, rs9991821, and rs17234715) and the development of PD. The single-locus analysis for the 5 polymorphisms revealed an association only for the rs6825004 polymorphism: the generalized odds ratio (OR(G) ) was 0.68 (95% confidence interval [CI], 0.51-0.90), and the OR for the allelic test was OR = 0.71 (95% CI, 0.56-0.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Proteínas de Membrana de los Lisosomas/genética , Enfermedad de Parkinson/genética , Polimorfismo de Nucleótido Simple/genética , Receptores Depuradores/genética , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Genotipo , Grecia , Humanos , Masculino , Oportunidad Relativa , Estudios RetrospectivosRESUMEN
Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal dominant or autosomal recessive inheritance. These genes include alpha-synuclein, parkin, PINK1, DJ-1, LRRK2, and ATP13A2. The monogenic variants are important tools in identifying cellular pathways that shed light on the pathogenesis of this disease. Certain common genetic variants are also likely to modulate the risk of PD. International collaborative studies and meta-analyses have identified common variants as genetic susceptibility risk/protective factors for sporadic PD.
Asunto(s)
Predisposición Genética a la Enfermedad/genética , Enfermedad de Parkinson/genética , Estimulación Encefálica Profunda/métodos , Variación Genética/genética , Estudio de Asociación del Genoma Completo/métodos , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Mutación/genética , Mutación Missense/genética , Proteínas Oncogénicas/genética , Enfermedad de Parkinson/terapia , Polimorfismo Genético , Proteína Desglicasa DJ-1 , Proteínas Quinasas/genética , Ubiquitina-Proteína Ligasas/genética , alfa-Sinucleína/genéticaRESUMEN
Acute disseminated encephalomyelitis is a monophasic inflammatory demyelinating disease of the central nervous system involving the white matter, and to a lesser extent, the gray matter. Bilateral thalamic lesions have been reported in 12% of pediatric patients with acute disseminated encephalomyelitis. In most cases, there is a benign clinical course and complete resolution of the lesions. Here, we describe a case in which acute disseminated encephalomyelitis is associated with severe neurological deficits and bilateral thalamic necrosis. Necrosis should be considered in cases of acute disseminated encephalomyelitis with persistent severe neurological deficits. Its presence is a poor prognostic indicator.
