Percorrer por autor "Almeida, S"
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- Bowel-associated dermatosis-arthritis syndrome in an adolescent with short bowel syndromePublication . Pereira, E; Estanqueiro, P; Almeida, S; Ferreira, R; Tellechea, O; Salgado, MBowel-associated dermatosis-arthritis syndrome (BADAS) is a neutrophilic dermatosis, characterized by the occurrence of arthritis and skin lesions related to bowel disease with or without bowel bypass. We report an unusual case of BADAS in a 15-year-old white male with congenital aganglionosis of the colon and hypoganglionosis of the small intestine and multiple bowel surgeries in childhood complicated by short bowel syndrome. He presented with recurrent peripheral polyarthritis, tenosynovitis, and painful erythematous subcutaneous nodules located on the dorsolateral regions of the legs and on the dorsa of the feet. Histological examination disclosed a neutrophilic dermatosis confirming the diagnosis of BADAS.Although an uncommon disease, especially at pediatric age, it is important to evoke the diagnosis of BADAS in children and adolescents with bowel disease, because treatment options and prognosis are distinct from other rheumatologic conditions.
- Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approachPublication . Oliveira, PH; Cunha, C; Almeida, S; Ferreira, R; Maia, S; Saraiva, JM; Lopes, MFJuvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6years of age. A 3.34Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.
- Linfoma primário da coluna vertebral: caso clínicoPublication . Vaio, T; Rial, M; Oliveira, J; Santos, A; Filipe, C; Almeida, S; Teixeira, A; Casanova, J; Santos, R; Reis, C; Porto, A
- Mitochondrial-dependent apoptosis in Huntington's disease human cybridsPublication . Ferreira, IL; Nascimento, MV; Ribeiro, MH; Almeida, S; Cardoso, SM; Grazina, M; Pratas, J; Santos, MJ; Januário, C; Oliveira, CR; Rego, ACWe investigated the involvement of mitochondrial-dependent apoptosis in Huntington's disease (HD) vs. control (CTR) cybrids, obtained from the fusion of human platelets with mitochondrial DNA-depleted NT2 cells, and further exposed to 3-nitropropionic acid (3-NP) or staurosporine (STS). Untreated HD cybrids did not exhibit significant modifications in the activity of mitochondrial respiratory chain complexes I-IV or in mtDNA sequence variations suggestive of a primary role in mitochondrial susceptibility in the subpopulation of HD carriers studied. However, a slight decrease in mitochondrial membrane potential and increased formation of intracellular hydroperoxides was observed in HD cybrids under basal conditions. Furthermore, apoptotic nuclei morphology and a moderate increase in caspase-3 activation, as well as increased levels of superoxide ions and hydroperoxides were observed in HD cybrids upon 3-NP or STS treatment. 3-NP-evoked apoptosis in HD cybrids involved cytochrome c and AIF release from mitochondria, which was associated with mitochondrial Bax translocation. CTR cybrids subjected to 3-NP showed increased mitochondrial Bax and Bim levels and the release of AIF, but not cytochrome c, suggesting a different mode of cell death, linked to the loss of membrane integrity. Additionally, increased mitochondrial Bim and Bak levels, and a slight release of cytochrome c in untreated HD cybrids may help to explain their moderate susceptibility to mitochondrial-dependent apoptosis
- MÓDULO 8 - 2º Curso de Formação para Internos 2013 - 2014:Pediatria do Internamento de MedicinaPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Estevão, MH; Ferreira, R; Madureira, N; Almeida, S; Silva, T; Félix, M; Maia, C
- MÓDULO 8 - Pediatria do Internamento de Medicina e SubespecialidadesPublication . Bento, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Estevão, MH; Ferreira, R; Madureira, N; Almeida, S; Gonçalves, I; Silva, T; Félix, M
