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Extensive intracranial involvement with multiple dissections in a case of giant...

A 56-year-old man presented with weight loss, articular pain and minor neurological symptoms progressing over 1 month. Neurosonological evaluation suggested occlusion in intracranial segments of the left vertebral artery (VA) and of both internal carotid arteries (ICA) and hypoechoic halo sign in both superficial temporal arteries. The diagnosis of giant cell arteritis was supported by inflammatory markers and ...

Localization of tumor necrosis factor in the canine testis, epididymis and sper...

Tumor necrosis factor (TNF), formerly known as Tumor necrosis factor alpha is now regarded as a natural component of the mammalian seminal plasma (SP). Although not completely clarified, its functions in the SP have been associated with paradoxal roles, such as sperm survival in the female genital tract, while at high levels negatively affect sperm survival and fertility potential. Recently, it has been discove...

Genetic screening of Alzheimer's disease genes in Iberian and African samples y...

Mutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65 years) 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...

Primary Bilateral Thalamic Astrocytoma Presenting With Head Tremor, Ataxia, and...

The Portuguese who could no longer speak French: primary progressive aphasia in...

Primary Bilateral Thalamic Astrocytoma Presenting With Head Tremor, Ataxia, and...

The Portuguese who could no longer speak French: primary progressive aphasia in...

Primary Bilateral Thalamic Astrocytoma Presenting With Head Tremor, Ataxia, and...

Pharmacogenetic polymorphisms in Brazilian-born, first-generation Japanese desc...

Brazil hosts the largest Japanese community outside Japan, estimated at 1.5 million individuals, one third of whom are first-generation, Brazilian-born with native Japanese parents. This large community provides a unique opportunity for comparative studies of the distribution of pharmacogenetic polymorphisms in native Japanese versus their Brazilian-born descendants. Functional polymorphisms in genes that modul...

Diagnostic value of CSF protein profile in a Portuguese population of sCJD pati...

The clinical diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is difficult, and reliable markers are highly desired. In this work we assess the value of several cerebrospinal fluid (CSF) markers for sCJD diagnosis. Within the framework of the Portuguese Epidemiological Surveillance Program for Human Prion Diseases, CSF samples from 71 patients with clinically suspected sCJD, 30 definite sCJD and 41 non-CJ...