16 documents found, page 1 of 2

Screening for Pompe disease in a Portuguese high risk population

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...

Screening for Pompe Disease in a Portuguese High Risk Population

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpa...

Image Diagnosis: Encephalopathy Resulting from Dural Arteriovenous Fistula

Dramatic recovery after IV thrombolysis in anterior circulation ischemic stroke...

BACKGROUND AND PURPOSE: Dramatic recovery (DR) after thrombolysis is dependent of vessel recanalization and is predictive of favorable clinical outcome. Successful recanalization is not equivalent to DR. Our objective was to assess its frequency and evaluate clinical and biochemical predictors and their prognosis. METHODS: We analyzed prospectively registered data from January 2007 to September 2012. All patien...

Dynamic myelopathy in Hirayama disease

Recurrent post-ictal hyperthermia

Diversity in anti-N-methyl-D-aspartate receptor encephalitis: case-based evidence

Antibodies against N-methyl-D-aspartate receptor (NMDAR) are identified in the form of immune-mediated encephalitis in which typical manifestations include neuropsychiatric symptoms, seizures, abnormal movements, dysautonomia and hypoventilation. The authors report two cases of anti-NMDAR encephalitis with different presentations and patterns of progression. The first patient presented with status epilepticus a...

Intravenous thrombolysis is more effective in ischemic cardioembolic strokes th...

It was suggested that intravenous thrombolysis (IT) leads to larger extent recanalization in cardioembolic stroke. In this work we assess if this has beneficial clinical traduction. METHOD: We evaluated 177 patients undergoing IT, which were categorized into cardioembolic (CE) and non-cardioembolic (NCE). National Institutes of Health Stroke Scale (NIHSS) and modified Rankin scale were compared. RESULTS: The me...

Trombose Venosa Cerebral com Hipertensão Intracraniana: quando a terapêutica mé...

Epilepsia Mioclónica Progressiva: à procura do diagnóstico genético