Browsing by Author "Dias, A."
Now showing 1 - 10 of 10
Results Per Page
Sort Options
- Celulite Periorbitária e Orbitária: casuística de 11 anosPublication . Monteiro, G.; Dias, A.; Teixeira, E.; Pereira, J.; Santos, E.RESUMO Introdução: As celulites da região orbitária são uma patologia relativamente comum, em idade pediátrica, com um potencial de gravidade estimável. Objetivos: A presente casuística tem como objetivo a revisão da epidemiologia, etiologia e abordagem terapêutica dos casos de celulite da região orbitária internados no Serviço de Pediatria do Centro Hospitalar Tondela-Viseu (CHTV), no período de 11 anos. Material e Métodos: Estudo retrospetivo dos processos clínicos de crianças internadas entre Janeiro de 2000 e Dezembro de 2010. Resultados: Das 93 crianças internadas, 94% foram celulites periorbitárias (CPO) e 6% celulites orbitárias (CO). A média de idades foi de seis anos e o sexo masculino predominante (61%). O traumatismo foi a causa conhecida mais comum (12 %). O cefuroxime foi o antibiótico de primeira linha em 84% dos casos que, na sua maioria, evoluíram favoravelmente. Verificaram-se complicações em cinco dos seis doentes com CO (83%). Não se verificaram óbitos. A maioria foi orientada para o médico de família. Conclusões: Destaca-se a importância do reconhecimento de uma CPO vs CO pela necessidade de diferentes abordagens clínicas e maior incidência de complicações nas últimas.
- Craniossinostoses - importância clínica e implicações funcionaisPublication . Cristóvão, C.; Emílio, A.; Soares, M.; Dias, A.; Matos, M.; Távora, L.RESUMO Introdução: A craniossinostose é uma condição patológica que resulta do encerramento precoce de uma ou várias suturas cranianas, podendo, para além da questão estética, levar ao aparecimento de complicações neurológicas, mais frequente quando existe envolvimento de mais de uma sutura. Descrição dos Casos: Os autores apresentam dois casos clínicos de craniossinostose, com diferentes tempos de seguimento, ilustrando a problemática da intervenção cirúrgica e a necessidade de observação precoce e seguimento por Neurocirurgia. Discussão: Sendo uma patologia relativamente frequente na população pediátrica geral deverá constituir um motivo de atenção especial por parte do Pediatra/Médico Assistente na avaliação periódica em Consulta de Rotina, referenciando à Consulta de Neurocirurgia o mais precocemente possível.
- Deformidade postero-medial congénita da tíbia: a propósito de 2 casos clínicosPublication . Dias, A.; Pinheiro, L.; Almeida, E.RESUMO Objetivo: Apresentar o caso de duas crianças com encurvamento dos membros inferiores condicionado por deformidades angulares da tíbia e discutir os seus diagnósticos diferenciais. Descrição do caso: Apresenta-se o caso de duas crianças referenciadas a uma consulta de Ortopedia Pediátrica por encurvamento dos membros inferiores. Não apresentavam manchas cutâneas ou outras particularidades ao exame objetivo. O exame clínico e imagiológico foi compatível com deformidade póstero-medial congénita da tíbia. A evolução clínica foi favorável, com resolução espontânea da deformidade e sem dismetria dos membros. Discussão: A deformidade póstero-medial congénita da tíbia é uma entidade rara, havendo escassos casos relatados. A sua incidência real permanece desconhecida. Implica o diagnóstico diferencial com pseudartrose congénita da tíbia, quase sempre relacionada com a neurofibromatose. A maioria das vezes o tratamento é conservador, atendendo a que tende a resolver espontaneamente (a maioria até aos 8 anos), sem qualquer repercussão clínica. Pretende-se alertar os Pediatras, para que estabeleçam a possibilidade desta entidade clínica perante um encurvamento dos membros inferiores, minimizando a ansiedade parental que dela resulte, ressalvando-se no entanto a importância de que sejam observados por ortopedistas atendendo a que há situações clínicas em que o diagnóstico pode não ser tão evidente.
- Galactose Epimerase Deficiency: Expanding the PhenotypePublication . Dias Costa, F.; Ferdinandusse, S.; Pinto, C.; Dias, A.; Keldermans, L.; Quelhas, D.; Matthijs, G.; Mooijer, P.; Diogo, L.; Jaeken, J.; Garcia, P.Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG). Follow-up disclosed psychomotor disability, deafness, and nuclear cataracts.Patient 2: The sibling of patient 1 was born with short limbs and hip dysplasia. She is deceased in the neonatal period due to intraventricular hemorrhage in the context of liver failure. Investigation disclosed galactosuria and normal transferrin glycosylation.Next-generation sequence panel analysis for CDG syndrome revealed the previously reported c.280G>A (p.[V94M]) homozygous mutation in the GALE gene. Enzymatic studies in erythrocytes (patient 1) and fibroblasts (patients 1 and 2) revealed markedly reduced GALE activity confirming generalized GALE deficiency. This report describes the fourth family with generalized GALE deficiency, expanding the clinical spectrum of this disorder, since major cardiac involvement has not been reported before.
- Glycans as Key Checkpoints of T Cell Activity and FunctionPublication . Pereira, M.; Alves, I.; Vicente, M.; Campar, A.; Silva, M.; Padrão, N.; Pinto, V.; Fernandes, Â.; Dias, A.; Pinho, S.The immune system is highly controlled and fine-tuned by glycosylation, through the addition of a diversity of carbohydrates structures (glycans) to virtually all immune cell receptors. Despite a relative backlog in understanding the importance of glycans in the immune system, due to its inherent complexity, remarkable findings have been highlighting the essential contributions of glycosylation in the regulation of both innate and adaptive immune responses with important implications in the pathogenesis of major diseases such as autoimmunity and cancer. Glycans are implicated in fundamental cellular and molecular processes that regulate both stimulatory and inhibitory immune pathways. Besides being actively involved in pathogen recognition through interaction with glycan-binding proteins (such as C-type lectins), glycans have been also shown to regulate key pathophysiological steps within T cell biology such as T cell development and thymocyte selection; T cell activity and signaling as well as T cell differentiation and proliferation. These effects of glycans in T cells functions highlight their importance as determinants of either self-tolerance or T cell hyper-responsiveness which ultimately might be implicated in the creation of tolerogenic pathways in cancer or loss of immunological tolerance in autoimmunity. This review discusses how specific glycans (with a focus on N-linked glycans) act as regulators of T cell biology and their implications in disease.
- Infecção por H1N1 num Serviço de PediatriaPublication . Magalhães, J.; Pinho, L.; Mendes, C.; Dias, A.; Zilhão, C.; Garrido, C.; Pinto, S.; Reis, M.G.; Guedes, M.Introdução: A infecção por vírus influenza A H1N1 constituiu a primeira pandemia deste século. Para reduzir a propagação, foram enfatizadas medidas de protecção individual e atendimento e internamento em áreas específicas, com isolamento de gotícula. Objectivos: Avaliar a importância da área de isolamento para casos de suspeita de infecção por H1N1 num Serviço de Pediatria. Caracterização da infecção nos doentes internados. Material e métodos: Consulta do processo clínico, com avaliação segundo parâmetros definidos pela Direcção Geral de Saúde. Tratamento de dados em Microsoft Excel 2007. Resultados: A área de isolamento teve oito camas, com 36% de ocupação. Dos 28 doentes internados, 82% tinham indicação para investigação, positiva em 54%. Foi feita pesquisa a 25 doentes fora do isolamento, positiva em 12%. Não ocorreu infecção nosocomial. Houve 23 casos, 74% de 16 de Novembro a 6 de Dezembro de 2009. A idade variou entre seis semanas e 16 anos, com mediana de um ano. A febre foi constante, tosse, rinorreia e vómitos foram frequentes. Os motivos de internamento foram febre em pequeno lactente, intolerância oral e hipoxemia. A terapêutica antiviral foi instituída em 13 doentes, com uma resistência. Em sete dos casos ocorreram complicações: pneumonia bacteriana provável (cinco), convulsão febril e abcessos esplénicos. Conclusões: As medidas foram eficazes. A área foi sobredimensionada. Relativamente à pandemia, existem essencialmente dados de organizações governamentais. Parece importante confrontar resultados para definir estratégias para uma futura epidemia. ABSTRACT Introduction: The influenza A H1N1 infection was the first pandemic in this century. To reduce the transmission, personal protection measures were emphasized and clinical observation and impatient care took place in specific areas, with respiratory droplet isolation. Objectives: To evaluate the importance of an isolation area for children admitted to a pediatic ward with suspected H1N1 infection. To characterize of the infection in hospitalized patients. Material and methods: Clinical files’ review. Evaluation according to parameters set by National Health Authority review using Microsoft Excel 2007. Results: The isolation area had eight beds, and 36% occupancy. Of 28 inpatients, 82% met criteria for investigation, positive in 54%. Investigation was done on 25 patients out of isolation, positive in 12%. Nosocomial infection did not occur. There were 23 cases, age ranged from six weeks to 16 years, 74% from November 16th to December 6th. Fever was always present, cough, coryza and vomiting were common. The reasons for hospitalization were fever in small infants, oral intolerance and hypoxemia. The antiviral therapy was instituted in 13 patients, with one resistance. Seven of the patients with H1N1 infection had complications: probable bacterial pneumonia (five), febrile convulsions and splenic abscesses. Conclusions: The protective measures were effective. The area was oversized. With regard to the pandemic, there is basically data from government organizations. It seems important to compare results to define strategies for a future epidemic.
- Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease PatientsPublication . Pereira, C.; Pérez-Cabezas, B.; Ribeiro, H.; Maia, M.; Cardoso, M.; Dias, A.; Azevedo, O.; Ferreira, M.; Garcia, P.; Rodrigues, E.; Castro-Chaves, P.; Martins, Esmeralda; Aguiar, P.; Pineda, M.; Amraoui, Y.; Fecarotta, S.; Leão-Teles, E.; Deng, S.; Savage, P.; Macedo, M.The lysosome has a key role in the presentation of lipid antigens by CD1 molecules. While defects in lipid antigen presentation and in invariant Natural Killer T (iNKT) cell response were detected in several mouse models of lysosomal storage diseases (LSD), the impact of lysosomal engorgement in human lipid antigen presentation is poorly characterized. Here, we analyzed the capacity of monocyte-derived dendritic cells (Mo-DCs) from Fabry, Gaucher, Niemann Pick type C and Mucopolysaccharidosis type VI disease patients to present exogenous antigens to lipid-specific T cells. The CD1b- and CD1d-restricted presentation of lipid antigens by Mo-DCs revealed an ability of LSD patients to induce CD1-restricted T cell responses within the control range. Similarly, freshly isolated monocytes from Fabry and Gaucher disease patients had a normal ability to present α-Galactosylceramide (α-GalCer) antigen by CD1d. Gaucher disease patients' monocytes had an increased capacity to present α-Gal-(1-2)-αGalCer, an antigen that needs internalization and processing to become antigenic. In summary, our results show that Fabry, Gaucher, Niemann Pick type C, and Mucopolysaccharidosis type VI disease patients do not present a decreased capacity to present CD1d-restricted lipid antigens. These observations are in contrast to what was observed in mouse models of LSD. The percentage of total iNKT cells in the peripheral blood of these patients is also similar to control individuals. In addition, we show that the presentation of exogenous lipids that directly bind CD1b, the human CD1 isoform with an intracellular trafficking to the lysosome, is normal in these patients.
- Metabolic control of T cell immune response through glycans in inflammatory bowel diseasePublication . Dias, A.; Correia, A.; Pereira, M.; Almeida, C.; Alves, I.; Pinto, V.; Catarino, T.; Mendes, N.; Leander, M.; Oliva-Teles, M.; Maia, L.; Delerue-Matos, C.; Taniguchi, N.i; Lima, Margarida; Pedroto, I.; Marcos-Pinto, Ricardo; Lago, P.; Reis, C.; Vilanova, M.; Pinho, S.Mucosal T lymphocytes from patients with ulcerative colitis (UC) were previously shown to display a deficiency in branched N-glycosylation associated with disease severity. However, whether this glycosylation pathway shapes the course of the T cell response constituting a targeted-specific mechanism in UC remains largely unknown. In this study, we demonstrated that metabolic supplementation of ex vivo mucosal T cells from patients with active UC with N-acetylglucosamine (GlcNAc) resulted in enhancement of branched N-glycosylation in the T cell receptor (TCR), leading to suppression of T cell growth, inhibition of the T helper 1 (Th1)/Th17 immune response, and controlled T cell activity. We further demonstrated that mouse models displaying a deficiency in the branched N-glycosylation pathway (MGAT5-/-, MGAT5+/-) exhibited increased susceptibility to severe forms of colitis and early-onset disease. Importantly, the treatment of these mice with GlcNAc reduced disease severity and suppressed disease progression due to a controlled T cell-mediated immune response at the intestinal mucosa. In conclusion, our human ex vivo and preclinical results demonstrate the targeted-specific immunomodulatory properties of this simple glycan, proposing a therapeutic approach for patients with UC.
- Oesophageal atresia: a 10-year experience of a Paediatric Intensive Care UnitPublication . Pinho, L.; Margatho, M.; Dias, A.; Pinto, C.; Lopes, M.; Neves, F.Background/Purpose: Oesophageal atresia (OA) is a congenital malformation with a variable prognosis. The aims were to establish OA’s incidence in the central region, to characterize infants with OA admitted and to compare its clinical outcome after surgical repair, according to OA classification. Methods: A retrospective review of infants with OA admitted to a PICU, after surgical repair, between 2002 and 2011. Patient characteristics, OA’s classification, surgery, morbidity and mortality were analyzed. Two groups were compared according to OA classification. Results: Thirty-four infants were admitted, out of which 65% were male, with a median gestational age of 36 weeks and birth weight of 2310g. Nineteen of them presented other malformations, mainly cardiac. Nine cases were classified as long-gap OA. Fistula ligation and primary oesophageal anastomosis was the most common surgical option (n=27). Early complications occurred in 13 infants (38%), mostly anastomotic leak, and were similar according to gap length (p=0.704). PICU stay and mechanical ventilation were longer in long-gap OA patients (p=0.009 and p<0.001 respectively) and in infants with other malformations (p=0.027 and p=0.003 respectively). There was no mortality. Conclusions: The frequency of OA associated malformations implies a systematic screening of these patients. Gap length and presence of associated malformations were the major determinants of length of intensive care stay and ventilation days in OA patients.
- Pneumonia Necrotizante A Propósito de Um Caso ClínicoPublication . Prazeres, T.; Dias, A.; Moura, R.; Fernandes, A.; Aguiar, I.; Lobo, A.ABSTRACT Introduction. Necrotizing Pneumonia (NP) is a serious complication of Community Acquired Pneumonia, whose incidence has been increasing in recent years. The authors present a case report of a child with NP and make a comprehensive review of the subject. Case report. A 22 months old girl, without history of relevant diseases, presented in Hospital because of high fever lasting six days. She appeared ill and septic, with severe respiratory distress, pallor, increased capillary refi lling time and defense to abdominal palpation. Serum analysis showed anaemia, neutrofi lia and elevated Reactive-C-Protein (393 mg/L). The thoraco-abdominal CT scan showed evidence of a large parenquimal consolidation involving the upper and lower lobes of the right lung. Due to unfavourable evolution after four days of antibiotics, she underwent thoracic CT scan that showed necrotizing phenomena of the right upper lobe associated with liquid collections, and therefore, intravenous clindamycin was associated to the treatment. She completed four weeks of antibiotherapy with a favourable outcome. Comments. Typically, children with NP appear ill and present with high fever, respiratory distress and hypoxemia; the diagnosis must be considered in all children with pneumonia presenting an unfavourable evolution. The CT scan is the gold-standard exam for the diagnosis. Antibiotic regimen should be long (normally four weeks), being vancomycin and clindamycin the preferred antibiotics. Conservative treatment appears to have good results and surgery is reserved for selected cases. Although it may be a severe disease in the acute stage, pediatric NP has a good outcome with clinical resolution in two months’ and minimal sequelae.