5 documents found, page 1 of 1
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, Rita João; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, José Miguel; Bullido, Maria. J.; Calado, Ana; Crook, Richard; Ferreira, CarlaMutations 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...
Myasthenia gravis and myasthenic syndromes
Relvas, Rute; Gonçalves, Manuel; Pinto Viana, J.The authors describe the anatomy, the neurochemistry of the neuromuscular junction, the classification of the different clinical entities, as well as the most frequently encountered diseases found in adults. The pathophysiology, clinical picture, differential diagnosis and therapeutic management of myasthenia gravis, the most commonly occurring acquired auto-imune disorder of neuromuscular transmission is revie...
AIDS dementia complex
Relvas, Rute; Gonçalves, Manuel; Pinto Viana, J.AIDS dementia complex or as it has more recently been termed HIV associated dementia, is a subcortical dementing illness. It occurs in the advanced stages of HIV infection and develops over weeks to months. The authors review the pathophysiology, clinical picture, differential diagnosis and the therapeutic management of this situation.; O complexo demencial relacionado com SIDA, ou mais recentemente classific...
Chronic meningitis
Relvas, Rute; Gonçalves, ManuelChronic meningitis is usually defined as a syn drome of meníngeal symptoms and signs lasting more than 4 weeks, which include infections and non-infections etiologies. This syndrome is less common than acute meningitis, yet his frequency has certainly increased in the imunossupressed patients. The authors discuss the clinical picture and the differential diagnosis of this situation.; As meningites crónicas são...
ldiopathic orbital myositis
Relvas, Rute; Cruz, Pedro; Gonçalves, Manuel; Almeida, Rita; Saraiva, Paulo; Viana, Pinto; Beirão, CabralIdiopathic orbital myositis is an inflammatory disease of unknown etiology, whose knowledge has been increasing with the new neuroimaging technics. lt should always be an exclusion diag nosis. The authors describe a case of a 69 year old male patient, with right periorbital pain and diplopia of sudden onset, and one week later loss of homolateral visual acuity. Neurological examination showed, on the right, ...