RESUMO
We studied multiple sclerosis (MS) patients with the HLA-DQB1*06:02 allele and compared them with MS patients who did not carry the HLA-DQB1*06:02 allele. We analyzed clinical and neurophysiological criteria for narcolepsy in six MS patients with HLA-DQB1*06:02, compared with 12 MS patients who were HLA-DQB1*06:02 non-carriers. Only two patients with HLA-DQB1*06:02 allele scored higher than 10 on the Epworth Sleepiness Scale. Polysomnography recording parameters and the multiple sleep latency test showed an absence of narcolepsy in the study group. Our study suggested no significant correlation between narcolepsy, MS and HLA-DQB1*06:02. The HLA-DQB1*06:02 allele alone was not sufficient to cause MS patients to develop narcolepsy.
Assuntos
Cadeias beta de HLA-DQ/genética , Esclerose Múltipla/complicações , Narcolepsia/etiologia , Adulto , Idoso , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/genética , Narcolepsia/diagnóstico , Narcolepsia/genética , Polissonografia , Adulto JovemRESUMO
ABSTRACT We studied multiple sclerosis (MS) patients with the HLA-DQB1*06:02 allele and compared them with MS patients who did not carry the HLA-DQB1*06:02 allele. We analyzed clinical and neurophysiological criteria for narcolepsy in six MS patients with HLA-DQB1*06:02, compared with 12 MS patients who were HLA-DQB1*06:02 non-carriers. Only two patients with HLA-DQB1*06:02 allele scored higher than 10 on the Epworth Sleepiness Scale. Polysomnography recording parameters and the multiple sleep latency test showed an absence of narcolepsy in the study group. Our study suggested no significant correlation between narcolepsy, MS and HLA-DQB1*06:02. The HLA-DQB1*06:02 allele alone was not sufficient to cause MS patients to develop narcolepsy.
RESUMO Pacientes com esclerose múltipla (EM) portadores do alelo HLA-DQB1*06:02 foram estudados e comparados com pacientes com EM mas que não são portadores do alelo HLA-DQB1*06:02. Os critérios clínicos e neurofisiológicos para narcolepsia foram analisados em pacientes com EM sendo 6 pacientes com o HLA-DQB1*06:02 comparados a 12 pacientes sem o HLA-DQB1*06:02. Somente 2 pacientes com EM e HLA-DQB1*06:02 tiveram escore maior que 10 na escala “Epworth Sleepiness Scale”. Os parâmetros da polissonografia e o teste de múltiplas latências do sono mostraram ausência de narcolepsia no grupo estudo. Nosso estudo não sugere correlações significantes entre narcolepsia, EM e HLA-DQB1*06:02. Somente o HLA-DQB1*06:02 não foi suficiente para desenvolver narcolepsia em pacientes com EM.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Adulto Jovem , Cadeias beta de HLA-DQ/genética , Esclerose Múltipla/complicações , Narcolepsia/etiologia , Polissonografia , Frequência do Gene , Genótipo , Esclerose Múltipla/genética , Narcolepsia/diagnóstico , Narcolepsia/genéticaAssuntos
Proteínas Musculares/genética , Mutação/genética , Síndromes Miastênicas Congênitas/genética , Miopatias Congênitas Estruturais/genética , Oftalmoplegia/genética , Criança , Feminino , Humanos , Síndromes Miastênicas Congênitas/diagnóstico , Miopatias Congênitas Estruturais/diagnóstico , Oftalmoplegia/diagnóstico , Canal de Liberação de Cálcio do Receptor de Rianodina/deficiência , Canal de Liberação de Cálcio do Receptor de Rianodina/genéticaRESUMO
Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disease that is characterized by myoclonic epilepsy with ragged red fibers (RRF) in muscle biopsies. The aim of this study was to analyze Brazilian patients with MERRF. Six patients with MERRF were studied and correlations between clinical findings, laboratory data, electrophysiology, histology and molecular features were examined. We found that blood lactate was increased in four patients. Electroencephalogram studies revealed generalized epileptiform discharges in five patients and generalized photoparoxysmal responses during intermittent photic stimulation in two patients. Muscle biopsies showed RRF in all patients using modified Gomori-trichrome and succinate dehydrogenase stains. Cytochrome c oxidase (COX) stain analysis indicated deficient activity in five patients and subsarcolemmal accumulation in one patient. Molecular analysis of the tRNA(Lys) gene with PCR/RFLP and direct sequencing showed the A8344G mutation of mtDNA in five patients. The presence of RRFs and COX deficiencies in muscle biopsies often confirmed the MERRF diagnosis. We conclude that molecular analysis of the tRNA(Lys) gene is an important criterion to help confirm the MERRF diagnosis. Furthermore, based on the findings of this study, we suggest a revision of the main characteristics of this disease.
Assuntos
Músculos/patologia , Músculos/fisiopatologia , Adulto , Biópsia , Análise Química do Sangue , Brasil , DNA Mitocondrial/genética , Eletroencefalografia , Complexo IV da Cadeia de Transporte de Elétrons/análise , Feminino , Histocitoquímica , Humanos , Síndrome MERRF/genética , Síndrome MERRF/patologia , Masculino , Microscopia , Pessoa de Meia-Idade , Mutação Puntual , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , RNA de Transferência de Lisina/genética , Análise de Sequência de DNARESUMO
Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the presynaptic neuromuscular transmission, which more frequently occurs as the remote effect of a neoplasm, in the paraneoplastic form (P-LEMS), or in a non-paraneoplastic form (NP-LEMS); but few studies describe the clinical features of NP-LEMS. We analyzed the clinical manifestations, laboratory findings, electrophysiological studies, and treatment responses in ten Brazilian patients suffering from NP-LEMS. The mean age was 41.5 years. More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement. Treatment response occurred with pyridostigmine, guanidine, prednisone, azathioprine, and cyclosporine; but not response was observed after intravenous immunoglobulin and plasma exchange. Age at onset, clinical manifestations, and electrophysiological abnormalities can help more in the diagnosis than serum antibodies; the symptomatic treatment with pyridostigmine was effective; and the immunosuppressive treatment with prednisone, azathioprine, or cyclosporine was more beneficial than plasma exchange or intravenous immunoglobulin treatment.
A síndrome miastênica de Lambert-Eaton (LEMS) é uma desordem imunomediada da transmissão neuromuscular pré-sinaptica, que mais frequentemente ocorre como efeito à distância de uma neoplasia, na forma paraneoplásica (P-LEMS), ou na forma não paraneoplásica (NP-LEMS); porém poucos estudos têm descrito as características da NP-LEMS. Nós analisamos as manifestações clínicas, laboratoriais, eletrofisiológicas, e resposta ao tratamento em dez pacientes brasileiros com NP-LEMS. A idade média foi de 41,5 anos. A manifestação neurológica mais freqüente foi hiporeflexia ou arreflexia com melhora após o exercício. A resposta ao tratamento ocorreu com piridostigmina, guanidina, prednisona, azatioprina, e ciclosporina; mas não com imunoglobulina intravenosa e plasmaférese. A idade de início, manifestações clínicas e eletrofisiológicas ajudaram mais no diagnóstico do que os anticorpos séricos; o tratamento sintomático com piridostigmina foi efetivo; e o tratamento imunossupressor com prednisona, azatioprina, ou ciclosporina beneficiou mais do que a plasmaférese ou a imunoglobulina intravenosa.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Miastênica de Lambert-Eaton , Eletrofisiologia , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Síndrome Miastênica de Lambert-Eaton/diagnóstico , Síndrome Miastênica de Lambert-Eaton/fisiopatologia , Síndrome Miastênica de Lambert-Eaton/terapia , Plasmaferese , Estudos RetrospectivosRESUMO
Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the presynaptic neuromuscular transmission, which more frequently occurs as the remote effect of a neoplasm, in the paraneoplastic form (P-LEMS), or in a non-paraneoplastic form (NP-LEMS); but few studies describe the clinical features of NP-LEMS. We analyzed the clinical manifestations, laboratory findings, electrophysiological studies, and treatment responses in ten Brazilian patients suffering from NP-LEMS. The mean age was 41.5 years. More often neurological findings were hyporeflexia or areflexia with a post-exercise improvement. Treatment response occurred with pyridostigmine, guanidine, prednisone, azathioprine, and cyclosporine; but not response was observed after intravenous immunoglobulin and plasma exchange. Age at onset, clinical manifestations, and electrophysiological abnormalities can help more in the diagnosis than serum antibodies; the symptomatic treatment with pyridostigmine was effective; and the immunosuppressive treatment with prednisone, azathioprine, or cyclosporine was more beneficial than plasma exchange or intravenous immunoglobulin treatment.
Assuntos
Síndrome Miastênica de Lambert-Eaton , Adulto , Eletrofisiologia , Feminino , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Imunossupressores/uso terapêutico , Síndrome Miastênica de Lambert-Eaton/diagnóstico , Síndrome Miastênica de Lambert-Eaton/fisiopatologia , Síndrome Miastênica de Lambert-Eaton/terapia , Masculino , Pessoa de Meia-Idade , Plasmaferese , Estudos RetrospectivosRESUMO
OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90% of patients on modified Gomori-trichrome and in 100% on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA (Leu(UUR)) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA(Leu(UUR)) gene should not be the only diagnostic criteria for MELAS.
Assuntos
Síndrome MELAS , Adolescente , Adulto , Biópsia , Criança , Pré-Escolar , Creatina Quinase/sangue , DNA Mitocondrial/genética , Feminino , Frutose-Bifosfato Aldolase/sangue , Humanos , Lactatos/sangue , Lactatos/líquido cefalorraquidiano , Síndrome MELAS/diagnóstico , Síndrome MELAS/genética , Síndrome MELAS/patologia , Imageamento por Ressonância Magnética , Masculino , Músculo Esquelético/patologia , Mutação/genética , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
OBJECTIVE: The aim of the study was to analyze a series of Brazilian patients suffering from MELAS. METHOD: Ten patients with MELAS were studied with correlation between clinical findings, laboratorial data, electrophysiology, histochemical and molecular features. RESULTS: Blood lactate was increased in eight patients. Brain image studies revealed a stroke-like pattern in all patients. Muscle biopsy showed ralled-red fibers (RRF) in 90 percent of patients on modified Gomori-trichrome and in 100 percent on succinate dehydrogenase stains. Cytochrome c oxidase stain analysis indicated deficient activity in one patient and subsarcolemmal accumulation in seven patients. Strongly succinate dehydrogenase-reactive blood vessels (SSV) occurred in six patients. The molecular analysis of tRNA Leu(UUR) gene by PCR/RLFP and direct sequencing showed the A3243G mutation on mtDNA in 4 patients. CONCLUSION: The muscle biopsy often confirmed the MELAS diagnosis by presence of RRF and SSV. Molecular analysis of tRNA Leu(UUR) gene should not be the only diagnostic criteria for MELAS.
OBJETIVO: O objetivo deste estudo foi analisar uma série de pacientes brasileiros portadores de MELAS. MÉTODO: Dez pacientes com MELAS foram estudados com correlação entre manifestações clínicas, alterações laboratoriais, estudo eletrofisiológico, histoquímico e molecular. RESULTADOS: O nível de lactato sérico estava aumentado em 8 pacientes. O estudo das imagens do crânio revelou padrão semelhante ao de AVC isquêmico em todos os pacientes. A biópsia muscular mostrou fibras rajadas vermelhas (RRF) em 90 por cento dos pacientes na coloração pelo tricrômio de Gomori modificado e em 100 por cento na reação histoquímica pela desidrogenase succicínica (SDH). A análise da coloração pela citocromo c oxidase indicou atividade deficiente em um paciente e acúmulo subsarcolemal em sete pacientes. Vasos com forte reação para SDH (SSV) ocorreram em seis pacientes. O estudo molecular do gene tRNA Leu(UUR) por PCR/RLFP e seqüenciamento direto mostrou a mutação A3243G no DNAmt de 4 pacientes. CONCLUSÃO: A biópsia muscular frequentemente confirma o diagnóstico de MELAS pela presença de RRF e SSV. O estudo molecular do gene tRNA Leu(UUR) não deve ser o único critério diagnóstico para MELAS.
