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Constipation is a major problem for institutionalized patients. This prospective study was performed on a population of 152 in-patients of a stroke rehabilitation center. Constipation was defined as less than three stools weekly or the use of laxative medication. Constipation occurred in sixty percent of the patients. The incidence of constipation was not(More)
INTRODUCTION Sturge-Weber syndrome is a neurocutaneous disease associating facial and pial angioma. Focal epilepsy is a common sign. In a few cases, generalized seizures have been reported. CASE REPORT We report on a four-year-old girl with Sturge-Weber syndrome. The first focal seizures occurred at three years of age. She developed refractory status(More)
PURPOSE We aimed to characterize pharmacologically the TSPO- radioligand [(18)F]DPA-714 in the brain of healthy cynomolgus monkeys and evaluate the cellular origin of its binding in a model of neurodegeneration induced by intrastriatal injection of quinolinic acid (QA). METHODS [(18)F]DPA-714 PET images were acquired before and at 2, 7, 14, 21, 49, 70, 91(More)
BACKGROUND The analysis of gene expression data shows that many genes display similarity in their expression profiles suggesting some co-regulation. Here, we investigated the co-expression patterns in gene expression data and proposed a correlation-based research method to stratify individuals. METHODOLOGY/PRINCIPAL FINDINGS Using blood from rheumatoid(More)
Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein co-activator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular(More)
INTRODUCTION Muscle phosphofructokinase deficiency, the seventh member of the glycogen storage diseases family, is also called Tarui's disease (GSD VII). METHODS We studied two patients in two unrelated families with Tarui's disease, analyzing clinical features, CK level, EMG, muscle biopsy findings and molecular genetics features. Metabolic muscle(More)
BACKGROUND AND PURPOSE This was a retrospective study to assess the diagnostic value of the non-ischaemic forearm exercise test in detecting McArdle's disease. METHODS The study is a retrospective diagnostic study over 15 years (1999-2013) on a referred sample of patients suffering from exercise intolerance and various muscle complaints, generally with(More)
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