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Introdução: A camptocormia (flexão anterior da coluna toraco-lombar) é um diagnóstico secundário a causas neurológicas (particularmente à doença de Parkinson), causas ortopédicas e outras (intoxicação farmacológica e síndromas paraneoplásicos). Quando associada a doenças neurológicas, esta reverte integralmente se o utente assumir o decúbito dorsal, o que não se verifica quando a causa é ortopédica. Este achado...
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Objectives: To characterise the referrals from primary care to the memory, including the reasons for referral, the diagnostic study performed in primary care, and the time elapsed until the hospital consultation. Type of study: Observational, cross-sectional, descriptive study. Setting: Hospital de Braga. Participants: Patients referred by primary care to the memory consultation of Hospital de Braga, with first...
Introduction: Acute transverse myelitis (ATM) refers to a frequently idiopathic, segmental spinal cord inflammation. It is a rare condition, in particular in children, and not previously reported in a family retinitis pigmentosa (RP) clinical setting. Case Report: An 11-year-old previously healthy girl, with a family history of RP, presented with a subacute flaccid paraparesis, with bilateral, up to the fourth ...
In the elderly there is a high risk of inappropriate medication and adverse effects of polypharmacy. A 68 year-old female patient resorted to the Emergency Room for suspected stroke. According to the husband, in the six months prior to admission, she became progressively disorientated and dependent. She had resorted to various appointments from different specialties and was polymedicated. It was impossible to c...
Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found t...