RESUMO
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild. However, the data available on interrupted DM1 patients and their phenotype are scarce. We studied 49 Spanish DM1 patients, whose clinical phenotype was evaluated in depth. Blood DNA was obtained and analyzed through triplet-primed polymerase chain reaction (PCR), long PCR-Southern blot, small pool PCR, AciI digestion, and sequencing. Five patients of our registry (10%), belonging to the same family, carried CCG interruptions at the 3'-end of the CTG expansion. Some of them presented atypical traits such as very late onset of symptoms ( > 50 years) and a severe axial and proximal weakness requiring walking assistance. They also showed classic DM1 symptoms including cardiac and respiratory dysfunction, which were severe in some of them. Sizes and interrupted allele patterns were determined, and we found a contraction and an expansion in two intergenerational transmissions. Our study contributes to the observation that DM1 patients carrying interruptions present with atypical clinical features that can make DM1 diagnosis difficult, with a later than expected age of onset and a previously unreported aging-related severe disease manifestation.
Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Miotonina Proteína Quinase/genética , Fenótipo , Expansão das Repetições de Trinucleotídeos , Alelos , Feminino , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
OBJECTIVE: The aim of the present study was to examine the relationship between magnetic resonance imaging (MRI) findings and cognitive functioning in a group of patients with primary Sjögren Syndrome (SS). METHODS: Fifteen subjects with primary SS and fifteen control subjects diagnosed with migraine were assessed. All subjects received a detailed neuropsychological assessment especially sensitive to fronto-subcortical disorders and a MRI study. Volumetric measures of the ventricular system and intracranial volume and measures of the severity and distribution of signal hyperintensities were obtained. RESULTS: Patients with SS showed larger ventricular volume than control subjects with migraine. The severity of MRI signal hyperintensities and ventricular volume were related to several cognitive and psychiatric variables. CONCLUSION: Patients with primary SS have morphological abnormalities that are related to neuropsychological and psychiatric disturbances. These findings provide some support for the organic etiology of cognitive and psychiatric dysfunction and thus for central nervous system involvement in SS.
Assuntos
Transtornos Cognitivos/complicações , Transtornos Cognitivos/patologia , Imageamento por Ressonância Magnética/métodos , Síndrome de Sjogren/complicações , Síndrome de Sjogren/patologia , Adulto , Idoso , Análise de Variância , Feminino , Humanos , Pessoa de Meia-Idade , Testes Neuropsicológicos/estatística & dados numéricos , Estatísticas não ParamétricasRESUMO
Acute stroke patients can be transferred directly to a Comprehensive Stroke Center (CSC), where acute stroke expertise is provided 24 h a day, seven days a week, and thrombolytic treatment is administered; or they may initially receive attention at an unspecialized community hospital with secondary transfer to the CSC. Our aim is to analyze the influence of previous attention at unspecialized community hospitals on the outcome of ischemic stroke patients treated with thrombolysis. We studied 153 consecutive ischemic stroke patients treated with t-PA over a 30-month period. The primary outcome variable was functional independence at 90 days (Rankin scale, mRS