SPM - Artigos publicados em revistas indexadas na Pubmed/Medline
Permanent URI for this collection
Browse
Browsing SPM - Artigos publicados em revistas indexadas na Pubmed/Medline by Issue Date
Now showing 1 - 10 of 49
Results Per Page
Sort Options
- Haemolytic uraemic syndrome, cardiomyopathy, cutaneous vasculopathy and anti-phospholipid activityPublication . Faria, M.; Mota, C.; Barbot, J.; Alvares, S.; Jardim, H.; Vilarinho, A.; Pereira, E.
- Pentanucleotide repeat (TTTTA)n polymorphism in the 5' control region of the apoliprotein (A) gene and atherothrombotic serum lipoprotein (A) concentration, in a pediatric populationPublication . Ferreira, H.; Costa, E.; Vieira, E.; Leão, A.; Magalhães, R.; Gomes, J.; Barbot, J.; Santos, R.
- Pneumonite intersticial crónicaPublication . Almeida, R.; Reis, G.; Ferreira, C.; Oliveira, M.; Oliveira, D.; Fernandes, P.; Ferreira, P.; Frutuoso, S.; Carreira, L.; Alves, V.; Paiva, A.; Guedes, M.A patologia pulmonar intersticial compreende um grupo de doenças crónicas caracterizadas por alterações das paredes alveolares e perda das unidades funcionais alveolocapilares. São doenças raras nas crianças, na sua maioria de causa desconhecida e revestindo-se habitualmente de uma elevada morbimortalidade, dada a pouca eficácia da terapêutica actualmente disponível. Os autores descrevem o caso clínico de uma criança de 3 anos, previamente saudável, que no contexto de uma infecção respiratória desenvolve um quadro de sibilância e insuficiência respiratória grave, na investigação do qual é diagnosticada uma pneumonite intersticial crónica. Foram tentadas diversas terapêuticas (corticoterapia sistémica, hidroxicloroquina, N-acetilcisteína) sem melhoria evidente.Interstitial lung disease includes a group of chronic diseases characterized by alterations in alveolar walls and loss of functional alveolar-capillary units. These are rare diseases in children, mostly with an unknown cause and associated with a high morbidity and mortality due to insufficient therapeutic effectiveness. The authors report a case of a previously healthy 3 years old child who presented with wheezing and severe respiratory insufficiency following a respiratory infection. The investigation performed led to the diagnosis of chronic interstitial pneumonitis. Several treatments have been tried (corticosteroids,hydroxychloroquine, N-acetylcysteine) without any obvious improvement.
- Cerebral vasculitis in Henoch‐Schönlein purpuraPublication . GONÇALVES, C.; FERREIRA, G.; MOTA, C.; VILARINHO, A.An Pediatr (Barc). 2004 Feb;60(2):188-9. [Cerebral vasculitis in Henoch-Schönlein purpura]. [Article in Spanish] Gonçalves C, Ferreira G, Mota C, Vilarinho A. PMID: 14757029 [PubMed - indexed for MEDLINE]
- Hidroxicloroquina na hemossiderose pulmonar idiopática - Caso clínicoPublication . Almeida, M.; Reis, G.; Guedes, M.Os autores apresentam o caso de uma criança com hemossiderose pulmonar idiopática grave, que, após ter iniciado tratamento com hidroxicloroquina, apresentou alteração do seu curso clínico, com melhoria significativa e duradoura. A eficácia desta terapêutica é salientada. Reportam ainda a ocorrência de exacerbação clínica, com hemoptise, após administração de vacina antigripal. The authors present the case of a child with severe idiopathic pulmonary hemosiderosis who after having begun treatment with hydroxychloroquine had a significant and lasting improvement. The efficacy of this therapeutic is pointed out. They also report the occurrence of clinical exacerbation, with hemoptysis, after receiving an influenza vaccine.
- Diagnóstico prenatal y seguimiento del quiste esplénicoPublication . Prior, C.; Miguez, R.; Teixeira, F.; Castro, J.Los quistes esplénicos congénitos son entidades poco frecuentes, particularmente en la edad pediátrica. En la literatura especializada existen pocos casos publicados con diagnóstico durante el período prenatal. Los autores describen 2 casos clínicos, identificados por ecografía prenatal a las 34 y 30 semanas de gestación, y su evolución posnatal hasta su resolución espontánea a los 5 meses y a los 2 años de vida, respectivamente. Se revisa la etiología, clínica y evolución de esta patología.Congenital splenic cysts are uncommon entities, especially in children. Few cases diagnosed in the prenatal period have been reported in the literature. We describe two cases that were identified by prenatal sonography at 34 and 30 gestational weeks. Their follow- up until spontaneous full regression at 5 months and 2 years, respectively, is discussed. The etiology, clinical findings, and clinical course of this entity are reviewed.
- Perioral pigmentation: What is your diagnosis?Publication . Santos, P.; Neto, C.; Machado, S.; Lobo, I.; Soares, J.; Selores, M.Pigmented spots in the skin and mucosa (lentigines) can be found in various diseases called familial lentiginosis syndromes; Peutz-Jeghers syndrome (PJS) is one of them. It is characterized by the association of mucocutaneous melanin pigmentation and hamartomatous gastrointestinal polyps. Patients with PJS are at increased risk of intussusception and cancer development (gastrointestinal and non-gastrointestinal tumors). We present a 5-year-old girl with pigmented macules of perioral and perinasal skin, lips, and buccal mucosa and review lentiginoses and the surveillance of PJS.
- Mutations in STAT3 and IL12RB1 impair the development of human IL-17 – producing T cellsPublication . Beaucoudrey, L.; Puel, A.; Filipe-Santos, O.; Cobat, A.; Ghandil, P.; Chrabieh, M.; Feinberg, J.; Bernuth, H.; Samarina, A.; Jannière, L.; Fieschi, C.; Stéphan, J.; Boileau, C.; Lyonnet, S.; Jondeau, G.; Cormier-Daire, V.; Merrer, M.; Hoarau, C.; Lebranchu, Y.; Lortholary, O.; Chandesris, M.; Tron, F.; Gambineri, E.; Bianchi, L.; Rodriguez-Gallego, C.; Zitnik, S.; Vasconcelos, J.; Guedes, M.; Vitor, A.; Marodi, L.; Chapel, H.; Reid, B.; Roifman, C.; Nadal, D.; Reichenbach, J.; Caragol, I.; Garty, B.; Dogu, F.; Camcioglu, Y.; Gülle, S.; Sanal, O.; Fischer, A.; Abel, L.; Stockinger, B.; Picard, C.; Casanova, J.Abstract The cytokines controlling the development of human interleukin (IL) 17--producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17--producing T helper cells in vivo by quantifying the production and secretion of IL-17 by fresh T cells ex vivo, and by T cell blasts expanded in vitro from patients with particular genetic traits affecting transforming growth factor (TGF) beta, IL-1, IL-6, or IL-23 responses. Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17--producing T cells. These data suggest that IL-12Rbeta1- and STAT-3--dependent signals play a key role in the differentiation and/or expansion of human IL-17-producing T cell populations in vivo.
- Pneumonia adquirida na comunidade numa crianc¸a saudável por AcinetobacterPublication . Moreira-Silva, G.; Morais, L.; Marques, L.; Senra, V.Resumo O género Acinetobacter tem sido implicado numa grande variedade de doenc¸as infecciosas, em particular, nas infecc¸ões associadas aos cuidados de saúde. Actualmente há evidência a enfatizar o papel deste microrganismo nas infecc¸ões adquiridas na comunidade. É relatado o caso de uma crianc¸a previamente saudável, de 28 meses de idade, internada por febre associada a tosse e dor localizada no hemitórax esquerdo e cuja radiografia torácica revelou pneumonia necrotisante do lobo inferior. A investigac¸ão diagnóstica efectuada permitiu o diagnóstico de Pneumonia adquirida na comunidade a Acinetobacter lwoffii. A crianc¸a partilhava frequentemente o seu equipamento respiratório com familiares idosos com doenc¸a pulmonar crónica obstrutiva. Dado não terem sido apurados outros factores de risco, considera-se que a partilha do equipamento poderá ter sido o foco infeccioso. Os autores pretendem alertar para a possibilidade de Pneumonia adquirida na comunidade por Acinetobacter lwoffii, numa crianc¸a previamente saudável, relacionada com o mau uso e limpeza dos nebulizadores. Este caso realc¸a o papel emergente desta bactéria, mesmo no contexto comunitário.Abstract Acinetobacter is involved in a variety of infectious diseases primarily associated with healthcare. Recently there has been increasing evidence of the important role these pathogens play in community acquired infections. We report on the case of a previously healthy child, aged 28 months, admitted for fever, cough and pain on the left side of the chest, which on radiographic examination corresponded to a lower lobe necrotizing pneumonia. After detailed diagnostic work---up, community acquired Acinetobacter lwoffii pneumonia was diagnosed. The child had frequently shared respiratory equipment with elderly relatives with chronic obstructive pulmonary disease. As there were no other apparent risk factors, it could be assumed that the sharing of the equipment was the source of infection
- Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiencyPublication . Couce, M.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Amor Bueno, M.; Delgado-Pecellín, C.; Castiñeiras, D.; Cocho, J.; García-Villoria, J.; Ribes, A.; Fraga, J.; Rocha, HBackground Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between genotype, biochemical parameters and clinical data at diagnosis and during follow-up, in order to optimize monitoring of these patients. Methods We carried out a multicenter study in southwest Europe, of MCADD patients detected by NBS. Evaluated NBS data included free carnitine (C0) and the acylcarnitines C8, C10, C10:1 together with C8/C2 and C8/C10 ratios, clinical presentation parameters and genotype, in 45 patients. Follow-up data included C0 levels, duration of carnitine supplementation and occurrence of metabolic crises. Results C8/C2 ratio and C8 were the most accurate biomarkers of MCADD in NBS. We found a high number of patients homozygous for the prevalent c.985A > G mutation (75%). Moreover, in these patients C8, C8/C10 and C8/C2 were higher than in patients with other genotypes, while median value of C0 was significantly lower (23 μmol/L vs 36 μmol/L). The average follow-up period was 43 months. To keep carnitine levels within the normal range, carnitine supplementation was required in 82% of patients, and for a longer period in patients homozygotes for the c.985A>G mutation than in patients with other genotypes (average 31 vs 18 months). Even with treatment, median C0 levels remained lower in homozygous patients than in those with other genotypes (14 μmol/L vs 22 μmol/L). Two patients died and another three suffered a metabolic crisis, all of whom were homozygous for the c.985 A>G mutation. Conclusions Our data show a direct association between homozygosity for c.985A>G and lower carnitine values at diagnosis, and a higher dose of carnitine supplementation for maintenance within the normal range. This study contributes to a better understanding of the relationship between genotype and phenotype in newborn patients with MCADD detected through screening which could be useful in improving follow-up strategies and clinical outcome.