21 documents found, page 1 of 3

Unidade de Investigação Clínica (UIC): um ano de experiência.

Apoio estatístico à investigação clínica

A Rare Presentation of Invasive Tuberculosis of the Central Nervous System in a...

We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed extensive peritoneal involvement. A broad differential diagnosis was considered, including neoplastic and infectious diseases. The diagnosis was confirmed with...

Subacute sclerosing panencephalitis presenting as rapidly progressive dementia ...

AVC e alterações cutâneas

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial...

DOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of ste...

Unidade de Investigação Clínica: UIC

Sessão de apresentação da Unidade de Investigação Clínica (UIC), com a descrição da reorganização da Unidade, circuitos e procedimentos para o desenvolvimento de estudos clínicos. A segunda parte abordou essencialmente questões relacionadas com o tratamento de dados pessoais no âmbito da investigação clínica

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...

A Case Report of Nonvasculitic Autoimmune Inflammatory Meningoencephalitis with...

A 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inabilit...

Encefalopatia e desequilíbrio da marcha de instalação subaguda