RESUMO
INTRODUCTION: The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation. CASE REPORT: A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness. He is the brother of a 59-year-old woman with the same clinical features. Muscular biopsy played a decisive role in the diagnosis and was characteristic of mitochondrial myopathy. The genetic analysis revealed the 8344A>G mutation of the MTTK gene of mitochondrial DNA. CONCLUSIONS: The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis.
TITLE: Debilidad aislada de cinturas: ampliacion del espectro fenotipico de la mutacion MERRF 8344A>G del ADN mitocondrial.Introduccion. El diagnostico diferencial de los trastornos que cursan con debilidad de cinturas de inicio en la edad adulta es amplio e incluye enfermedades de neurona motora, union neuromuscular o musculo. La mutacion m.8344A>G del gen MTTK del ADN mitocondrial suele presentarse con afectacion de multiples organos asociada o no a una debilidad de cinturas. No se han descrito hasta el momento casos de debilidad de cinturas aislada como sintoma de presentacion de esta mutacion. Caso clinico. Varon de 57 años, con clinica aislada de debilidad progresiva de cinturas, de cuatro años de evolucion. Hermano de una mujer de 59 años con la misma sintomatologia. La biopsia muscular fue decisiva en el diagnostico y es caracteristica de una miopatia mitocondrial. El analisis genetico objetivo la mutacion m.8344A>G del gen MTTK del ADN mitocondrial. Conclusiones. La mutacion 8344A>G del ADN mitocondrial puede cursar con un cuadro aislado de debilidad de cinturas de inicio en el adulto, por lo que debe de formar parte del diagnostico diferencial de este.
Assuntos
DNA Mitocondrial/genética , Síndrome MERRF/genética , Debilidade Muscular/genética , Mutação de Sentido Incorreto , Mutação Puntual , RNA de Transferência de Lisina/genética , Idade de Início , Diagnóstico Diferencial , Estudos de Associação Genética , Humanos , Síndrome MERRF/diagnóstico , Síndrome MERRF/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/diagnóstico , Debilidade Muscular/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/ultraestrutura , FenótipoRESUMO
Two strategies, summer pruning and postharvest Ca treatment, were studied in apple (Malus domestica Borkh) cv. 'Reinette du Canada' in order to analyze its effect on the fruit quality during storage. Summer pruning and Ca treatment reduced external and internal bitter-pits; so after 180 days of storage, both treatments decreased external bitter-pit by 10.0% and 16.7%, respectively. Summer pruning influenced color, firmness, total soluble solids and titratable acidity (TA) of fruit during storage, whereas Ca treatment only affected firmness and TA. Fruit from pruned trees had significant lower K and Mg than those from unpruned trees and Ca treatment increased Ca content. Orchard management, by means of summer pruning, combined with Ca postharvest application would be useful to prevent losses due to bitter-pit during storage in commercial orchards. However, in organic orchards, summer pruning would be the ecological alternative to decrease bitter-pit incidence during storage in high quality apple cv. 'Reinette du Canada'. K/Ca ratio, on the peel at harvest, turned out to be the best parameter to correlate with external and internal bitter-pits during storage; so this ratio would be useful to predict bitter-pit on long-term storage.
Assuntos
Cálcio/farmacologia , Conservação de Alimentos/métodos , Conservantes de Alimentos/farmacologia , Frutas , Malus/fisiologia , Estações do Ano , Agricultura/métodos , Controle de QualidadeRESUMO
OBJECTIVE: To establish prevalence and incidence of multiple sclerosis (MS) in Menorca (Balearic Islands, Spain; population: 67,009). METHODS: An extensive epidemiological study was undertaken using all available information sources. Patients were classified according to Poser's criteria. RESULTS: The prevalence rate of definite and probable MS was 68.6/100,000 (95% confidence interval 50.3-91.6). The incidence rate was 3.4/100,000/year (95% CI 2.2-5.3). The time lag between the first symptom and diagnosis was 10.2 years for patients with disease onset before 1987 and 2.1 years for patients with onset between 1987 and 1996. CONCLUSION: Menorca's population has a moderately high MS risk, with a prevalence rate the highest reported for a Spanish region.
Assuntos
Esclerose Múltipla/epidemiologia , Adulto , Área Programática de Saúde , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Espanha/epidemiologiaRESUMO
Spinal neurofibromatosis (SNF) has been considered to be an alternative form of neurofibromatosis in which spinal cord tumors are the main clinical characteristic. Familial SNF has been reported, elsewhere, in three families-two linked to markers within the gene for neurofibromatosis type 1 (NF1) and the other not linked to NF1-but no molecular alterations have been described in these families. We describe a three-generation family that includes five members affected by SNF. All the affected members presented multiple spinal neurofibromas and café au lait spots, one member had cutaneous neurofibromas, and some members had other signs of NF1. Genetic analysis, performed with markers within and flanking the NF1 gene, showed segregation with the NF1 locus. Mutation analysis, performed with the protein-truncation test and SSCP/heteroduplex analysis of the whole coding region of the NF1 gene, identified a frameshift mutation (8042insA) in exon 46, which should result in a truncated NF1 protein. The 8042insA mutation was detected in all five family members with the SNF/NF1 phenotype. To our knowledge, this is the first time that a mutation in the NF1 gene has been associated with SNF. The clinical homogeneity in the severity of the disease among the affected members of the family, which is unusual in NF1, suggests that a particular property of the NF1 mutation described here, a gene closely linked to NF1, or posttranscriptional events are involved in this severe neurological phenotype.
Assuntos
Mutação da Fase de Leitura , Neurofibromatose 1/genética , Proteínas/genética , Adulto , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/fisiopatologia , Neurofibromina 1 , Linhagem , Medula Espinal/fisiopatologiaRESUMO
Alcoy is a defined health region in eastern Spain, at 3 degrees E-38 degrees N, with a single neurology department and includes 33 towns with a total population of 133,915 inhabitants. We have evaluated the prevalence and incidence of multiple sclerosis (MS) by analysing this region. Six new cases have been detected (2.24/100,000/year) and the prevalence rate was 17.17/100,000, the highest in Spain at the moment. However, we found an irregular distribution in the different towns in so far that 15 of our 23 patients lived in a particular subregion, which means a prevalence of 44.59/100,000. Our study shows that the area of Alcoy is a medium MS risk region according to the thesis of Kurzke, although high MS areas may be found, thus confirming that MS distribution in southern Europe is not uniform.
Assuntos
Comparação Transcultural , Esclerose Múltipla/epidemiologia , Adulto , Estudos Transversais , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Exame Neurológico , Fatores de Risco , Espanha/epidemiologiaRESUMO
A retrospective study was made of the cases of cerebral toxoplasmosis (CT) diagnosed since 1985 in patients with AIDS. In the period studied, out of a total of 70 patients with AIDS, 13 (18.5%) were diagnosed with CT. In eight cases (11%) CT was the first illness indicating AIDS. The clinical, neuro-radiological and serological findings were analyzed. Also the response to treatment with pyrimethamine and sulfadiazine. Although the rate of mortality from CT has been very low among our patients, relapses have been frequent, even in patients who were on maintenance treatment with pyrimethamine, and in the medium term the prognosis is made more gloomy by the appearance of other opportunistic infections.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Encefalopatias/tratamento farmacológico , Leucovorina/uso terapêutico , Pirimetamina/uso terapêutico , Sulfadiazina/uso terapêutico , Toxoplasmose/tratamento farmacológico , Adulto , Encefalopatias/complicações , Avaliação de Medicamentos , Quimioterapia Combinada , Feminino , Humanos , Masculino , Estudos Retrospectivos , Toxoplasmose/complicaçõesRESUMO
We describe a patient with mononeuritis multiplex who had cranial nerve involvement in association with Waldenström's macroglobulinemia. Sural nerve biopsy showed abundant endoneurial granulofibrillary deposits related to microangiopathic changes. These changes were distributed in a multifocal pattern among the fascicles. Immunohistochemistry demonstrated the IgM nature of the deposit located in the endoneurial interstitium.