29 documents found, page 1 of 3

Parvovirus B19 Infection Associated with Hemolytic Anemia and Cranial Polyneuro...

Parvovirus B19 (PB19) is a common, widespread, small, single-stranded DNA virus which has been linked with a broad spectrum of clinical illnesses, including a variety of neurological complications such as encephalitis, meningitis, myelitis, stroke, cerebellar ataxia, and neuropathy. The authors describe a case of PB19 infection associated with hemolytic anemia and cranial polyneuropathy involving the second and...

Urinary Tract Effects of HPSE2 Mutations

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which...

Adenocarcinoma do Cólon e Polimiosite Paraneoplásica: a Importância do Programa...

O carcinoma do cólon e recto é o tumor gastrointestinal mais frequente. A polimiosite é uma doença rara, inflamatória, frequentemente idiopática, que se manifesta por diminuição da força muscular proximal. Raramente, pode associar-se a síndrome paraneoplásica. Existem diversos estudos sobre a relação entre neoplasias e dermatomiosite ou polimiosite. Contudo, a associação do adenocarcinoma do cólon e miopatias i...

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...

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...

Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRK...

BACKGROUND: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. METHODS: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and la...

Incorporation of alfa-tocoferol in polymethylmethacrylate acrylic bone cement

The effect of ethanol on monomer release from a dental resin biomaterial

Methylmethacrylate monomer in acrylic bone cement toxicity

Evaluation of methylmethacrylate leaching from acrylic bone cement