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1.
Neuromuscul Disord ; 16(11): 800-4, 2006 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16952453

RESUMO

Mutations in the SOD1 gene exons and exon/intron boundaries were searched in 66 sporadic and 4 familial Italian ALS cases consecutively referred to our centre from different Italian regions. A mutation was found in three sporadic cases (4.5%): a new nonsense mutation in exon 5 (K136X) in a patient with a rapid and severe disease course and two previously described missense nucleotide substitutions (N65S and A95T) in two patients with a mild disease course. Comparison of the clinical characteristics with previously reported patients carrying the same or similar mutations showed a remarkable genotype-phenotype correlation. No association was found with intronic sequence variations by comparing their frequency in the patients and in 181 matched controls.


Assuntos
Esclerose Lateral Amiotrófica/genética , Mutação de Sentido Incorreto/genética , Superóxido Dismutase/genética , População Branca/genética , Esclerose Lateral Amiotrófica/metabolismo , DNA/genética , Progressão da Doença , Éxons/genética , Feminino , Genótipo , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , RNA Mensageiro/genética , Índice de Gravidade de Doença , Superóxido Dismutase/metabolismo , Superóxido Dismutase-1
2.
BMJ Case Rep ; 20112011 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-22701032

RESUMO

A patient with multiple myeloma was treated with high-dose chemotherapy followed by two autologous bone marrow transplantations (ABMTs). Nine months after the second ABMT the patient complained of severe left hemiparesis, paraesthesias, left homonymous visual field defects and gait ataxia. She was diagnosed with progressive multifocal leucoencephalopathy (PML) confirmed by detection of JC virus (JCV) DNA and prescribed cidofovir every other week and mirtazapine daily. Her symptoms and signs remained stable and after 6 months the JCV DNA was undetectable in the cerebrospinal fluid. Repeated MRI scans demonstrated the stabilisation of demyelinating lesion volume; after more than 2 years of follow-up the patient's neurological examination does not show significant variations. Combination of cidofovir and mirtazapine may be helpful in the treatment of PML in HIV-negative patients.


Assuntos
Antidepressivos Tricíclicos/uso terapêutico , Antivirais/uso terapêutico , Transplante de Medula Óssea , Citosina/análogos & derivados , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Mianserina/análogos & derivados , Organofosfonatos/uso terapêutico , Complicações Pós-Operatórias/tratamento farmacológico , Cidofovir , Citosina/uso terapêutico , Quimioterapia Combinada , Feminino , Humanos , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/etiologia , Mianserina/uso terapêutico , Pessoa de Meia-Idade , Mirtazapina , Mieloma Múltiplo/cirurgia , Complicações Pós-Operatórias/diagnóstico , Transplante Autólogo
3.
Exp Neurol ; 223(1): 229-37, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19682989

RESUMO

Amyotrophic Lateral Sclerosis (ALS) is a devastating incurable disease. Stem-cell-based therapies represent a new possible strategy for ALS clinical research. The objectives of this Phase 1 clinical study were to assess the feasibility and toxicity of mesenchymal stem cell transplantation and to test the impact of a cell therapy in ALS patients. The trial was approved and monitored by the National Institute of Health and by the Ethics Committees of all participating Institutions. Autologous MSCs were isolated from bone marrow, expanded in vitro and analyzed according to GMP conditions. Expanded MSCs were suspended in the autologous cerebrospinal fluid (CSF) and directly transplanted into the spinal cord at a high thoracic level with a surgical procedure. Ten ALS patients were enrolled and regularly monitored before and after transplantation by clinical, psychological, neuroradiological and neurophysiological assessments. There was no immediate or delayed transplant-related toxicity. Clinical, laboratory, and radiographic evaluations of the patients showed no serious transplant-related adverse events. Magnetic resonance images (MRI) showed no structural changes (including tumor formation) in either the brain or the spinal cord. However the lack of post mortem material prevents any definitive conclusion about the vitality of the MSCs after transplantation. In conclusion, this study confirms that MSC transplantation into the spinal cord of ALS patients is safe and that MSCs might have a clinical use for future ALS cell based clinical trials.


Assuntos
Esclerose Lateral Amiotrófica/cirurgia , Transplante de Células-Tronco Mesenquimais/métodos , Adulto , Idoso , Esclerose Lateral Amiotrófica/fisiopatologia , Antígenos CD/metabolismo , Células da Medula Óssea/fisiologia , Estudos de Coortes , Imagem de Difusão por Ressonância Magnética/métodos , Estimulação Elétrica/métodos , Potenciais Somatossensoriais Evocados/fisiologia , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medula Espinal/patologia , Fatores de Tempo , Adulto Jovem
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