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  • Toxina botulínica: aplicações terapêuticas em Oftalmologia Pediátrica
    Publication . Varandas, R.
    Descrição das aplicações terapêuticas da toxina botulínica em oftalmologia pediátrica. Descrição da técnica, material necessário, complicações e efeitos secundários. Comparação de resultados com a cirurgia clássica. Breve apresentação de alguns casos clínicos da consulta de Oftalmologia Pediátrica do CHVNG. ABSTRACT Description of the therapeutic indications of botulinum toxin in pediatric ophthalmology, the procedure, technic injection, complications and side effects. Comparison of the success rate of classical surgery and the application of BTX. Short review of some clinical cases from the service of Pediatric Ophthalmology of CHVNG.
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  • Genes, crianças e pediatras: distrofia miotónica
    Publication . Dias, C.; Santos, M.; Vilarinho, M.; Santos, R.; Fortuna, A.; Lima, M.
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  • Caso endoscópico: colite ulcerosa aguda
    Publication . Pereira, F.
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  • Toxina botulínica: aplicações terapêuticas na criança com disfunções miccionais
    Publication . Silva-Ramos, M.
    Introdução e objectivo da revisão: Classicamente o tratamento das disfunções vesico-uretrais em crianças baseia-se nos antimuscarínicos, alfabloqueantes e no cateterismo vesical intermitente. Quando esta terapêutica falha, ou por pouca eficácia ou por efeitos adversos, é necessário recorrer a cirurgias agressivas como a enterocistoplastia de aumento. As injecções de toxina botulinica (TXB) no detrusor e no esfíncter foram recentemente introduzidas no tratamento destes casos refractários ao tratamento conservador. Realizamos uma revisão da literatura focada no tratamento da disfunção vesico-uretral com TXB na criança Observações: Encontramos apenas 14 artigos publicados sobre o uso de TXB especificamente na disfunção vesico-uretral pediátrica. Sendo estes referentes a 10 diferentes séries de pacientes. Sete séries incluíam apenas doentes com disfunção neurogénica e apenas dois contemplavam a aplicação de toxina no esfíncter. A aplicação de TXB no detrusor aumentou significativamente a capacidade vesical e diminuiu a pressão máxima do detrusor na grande maioria dos doentes, tornando-os continentes. A injecção de TXB no esfíncter diminuiu significativamente o resíduo pós-miccional, a pressão do detrusor que provoca perdas e aumentou o fluxo urinário, embora seja por vezes necessário injecções mensais até atingir o resultado pretendido. Conclusões: A TXB parece ser uma boa alternativa ao tratamento cirúrgico da hiperactividade do detrusor na população pediátrica. O uso de TXB no esfíncter em doentes com disfunção miccional parece promissor, no entanto mais estudos são necessários para avaliar qual o melhor método de administração, dose e a sua eficácia a longo prazo.
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  • Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status.
    Publication . LEITE, M.I.; JONES, M.; STRÖBEL, P.; MARX, A.; GOLD, R.; NIKS, E.; VERSCHUUREN, J.J.; BERRIH‐AKNIN, S.; SCARAVILLI, F.; CANELHAS, A.; MORGAN, B.P.; VINCENT, A.; WILLCOX, N.
    Am J Pathol. 2007 Sep;171(3):893-905. Epub 2007 Aug 3. Myasthenia gravis thymus: complement vulnerability of epithelial and myoid cells, complement attack on them, and correlations with autoantibody status. Leite MI, Jones M, Ströbel P, Marx A, Gold R, Niks E, Verschuuren JJ, Berrih-Aknin S, Scaravilli F, Canelhas A, Morgan BP, Vincent A, Willcox N. Department of Clinical Neurology, University of Oxford, Oxford, United Kingdom. Abstract In early-onset myasthenia gravis, the thymus contains lymph node-type infiltrates with frequent acetylcholine receptor (AChR)-specific germinal centers. Our recent evidence/two-step hypothesis implicates hyperplastic medullary thymic epithelial cells (expressing isolated AChR subunits) in provoking infiltration and thymic myoid cells (with intact AChR) in germinal center formation. To test this, we screened for complement attack in a wide range of typical generalized myasthenia patients. Regardless of the exact serology, thymi with sizeable infiltrates unexpectedly showed patchy up-regulation of both C5a receptor and terminal complement regulator CD59 on hyperplastic epithelial cells. These latter also showed deposits of activated C3b complement component, which appeared even heavier on infiltrating B cells, macrophages, and especially follicular dendritic cells. Myoid cells appeared particularly vulnerable to complement; few expressed the early complement regulators CD55, CD46, or CR1, and none were detectably CD59(+). Indeed, when exposed to infiltrates, and especially to germinal centers, myoid cells frequently labeled for C1q, C3b (25 to 48%), or even the terminal C9, with some showing obvious damage. This early/persistent complement attack on both epithelial and myoid cells strongly supports our hypothesis, especially implicating exposed myoid cells in germinal center formation/autoantibody diversification. Remarkably, the similar changes place many apparent AChR-seronegative patients in the same spectrum as the AChR-seropositive patients. PMID: 17675582 [PubMed - indexed for MEDLINE]PMCID: PMC1959483Free PMC Article Images from this publication.See all images (6) Free text Figure 1 Distribution of complement receptors C3aR, C5aR, and CR1 (receptor for C3b and C4b) (all in red) in epithelial areas and/or infiltrates in thymi from non-MG controls (A and B), AChRAb+ (C–E), or SNMG (F) MG patients. A and B: In control thymi, occasional mTECs are weakly C5aR+, as in some areas in MG thymi, bu... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.Figure 2 Distribution of complement regulators CD46, CD55, and CD59 (all in red) in epithelial areas and infiltrates in control (A and D) and MG thymi (B, C, and E–I). Cytokeratin (CK, green). A: In controls, CD46 (A) and CD55 (not shown) expression is minimal; in MG, both are much stronger in the MEBs than in the nMe... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.Figure 3 Labeling for C1q and C3b complement fragments (both in red) in epithelial areas and infiltrates in MG and control thymi. Cytokeratin (CK, green). A and B: In MG, there is extensive patchy labeling for C1q in mTECs and other cells in MEBs and in infiltrates and GC in AChRAb+ (A) or SNMG (B) samples. C: In co... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.Figure 4 Rarity of complement regulators on myoid cells. In both control (not shown) and MG thymi (A), myoid cells (MC) are uniformly CD59− (red), even when exposed to infiltrates, but ∼5% of the latter express detectable CD55 (red) (B, inset). (Donors both female: A, 20 years of age; B, 16 years of age). Desmin (De, ... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.Figure 5 Labeling for C1q, C3b, or C9 (all in red) on exposed myoid cells (MC) in MG thymi. Desmin (De, green). A and B: Some exposed myoid cells label for C1q in AChRAb+ (A) or SNMG (B) MG samples, in which many of them label for C3b (C and D; enlarged in insets) and some for C9 in AChRAb+ (E) or SNMG (F) samples. Note aggr... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.Figure 6 Percentages of myoid cells exposed to the infiltrates in non-MG controls and MG patient subgroups. Their rarity in the control and MuSKAb+ samples reflects the paucity of infiltrates. There were significantly fewer myoid cells/mm2 in the AChRAb+ group than in the controls (see mini-table below; *P < 0.0... Myasthenia Gravis Thymus Am J Pathol. 2007 September;171(3):893-905.
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  • Molecular epidemiology of imipenem‐resistant Acinetobacter haemolyticus and Acinetobacter baumannii isolates carrying plasmidmediated OXA‐40 from a Portuguese hospital.
    Publication . QUINTEIRA, S.; GROSSO, F.; RAMOS, H.; PEIXE, L.
    Antimicrob Agents Chemother. 2007 Sep;51(9):3465-6. Epub 2007 Jul 2. Molecular epidemiology of imipenem-resistant Acinetobacter haemolyticus and Acinetobacter baumannii isolates carrying plasmid-mediated OXA-40 from a Portuguese hospital. Quinteira S, Grosso F, Ramos H, Peixe L. PMID: 17606684 [PubMed - indexed for MEDLINE]
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  • Caso estomatológico: cáries de esmalte
    Publication . Amorim, J.
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  • Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
    Publication . MARINI, C.; MEI, D.; TEMUDO, T.; FERRARI, A.; BUTI, D.; DRAVET, C.; DIAS, A.; MOREIRA, A.; CALADO, E.; SERI, S.; NEVILLE, B.; NARBONA, J.; REID, E.; MICHELUCCI, R.; SICCA, F.; CROSS, H.; GUERRINI, R.
    Epilepsia. 2007 Sep;48(9):1678-85. Epub 2007 Jun 11. Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities. Marini C, Mei D, Temudo T, Ferrari AR, Buti D, Dravet C, Dias AI, Moreira A, Calado E, Seri S, Neville B, Narbona J, Reid E, Michelucci R, Sicca F, Cross HJ, Guerrini R. SourceEpilepsy, Neurophysiology and Neurogenetic Unit, Institute of Child Neurology and Psychiatry, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy. Abstract PURPOSE: SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI) and generalized epilepsy with febrile seizures plus (GEFS+). We studied 132 patients with epilepsy syndromes with seizures precipitated by fever, and performed phenotype-genotype correlations with SCN1A alterations. METHODS: We included patients with SMEI including borderline SMEI (SMEB), GEFS+, febrile seizures (FS), or other seizure types precipitated by fever. We performed a clinical and genetic study focusing on SCN1A, using dHPLC, gene sequencing, and MLPA to detect genomic deletions/duplications on SMEI/SMEB patients. RESULTS: We classified patients as: SMEI/SMEB = 55; GEFS+= 26; and other phenotypes = 51. SCN1A analysis by dHPLC/sequencing revealed 40 mutations in 37 SMEI/SMEB (67%) and 3 GEFS+ (11.5%) probands. MLPA showed genomic deletions in 2 of 18 SMEI/SMEB. Most mutations were de novo (82%). SMEB patients carrying mutations (8) were more likely to have missense mutations (62.5%), conversely SMEI patients (31) had more truncating, splice site or genomic alterations (64.5%). SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS compared to those with missense mutations and without mutations (p = 0.00007, ANOVA test). None of the remaining patients with seizures precipitated by fever carried SCN1A mutations. CONCLUSION: We obtained a frequency of 71%SCN1A abnormalities in SMEI/SMEB and of 11.5% in GEFS+ probands. MLPA complements DNA sequencing of SCN1A increasing the mutation detection rate. SMEI/SMEB with truncating, splice site or genomic alterations had a significantly earlier age of onset of FS. This study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.
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  • Iron overload and immunity
    Publication . Porto, G.; De Sousa, M.
    World J Gastroenterol. 2007 Sep 21;13(35):4707-15. Iron overload and immunity. Porto G, De Sousa M. Institute of Molecular and Cellular Biology, Rua do Campo Alegre, Porto 8234150, Portugal. gporto@ibmc.up.pt Abstract Progress in the characterization of genes involved in the control of iron homeostasis in humans and in mice has improved the definition of iron overload and of the cells affected by it. The cell involved in iron overload with the greatest effect on immunity is the macrophage. Intriguing evidence has emerged, however, in the last 12 years indicating that parenchymal iron overload is linked to genes classically associated with the immune system. This review offers an update of the genes and proteins relevant to iron metabolism expressed in cells of the innate immune system, and addresses the question of how this system is affected in clinical situations of iron overload. The relationship between iron and the major cells of adaptive immunity, the T lymphocytes, will also be reviewed. Most studies addressing this last question in humans were performed in the clinical model of Hereditary Hemochromatosis. Data will also be reviewed demonstrating how the disruption of molecules essentially involved in adaptive immune responses result in the spontaneous development of iron overload and how they act as modifiers of iron overload. PMID: 17729392 [PubMed - indexed for MEDLINE]
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