Browsing by Author "Dias, A"
Now showing 1 - 10 of 10
Results Per Page
Sort Options
- Cirurgia na Artrite Idiopática Juvenil: Caso ClínicoPublication . Judas, F; Teixeira, L; Costa, P; Dias, AApresenta-se o caso clínico referente a uma doente com 17 anos de idade, portadora de artrite idiopática juvenil poliarticular, que apresentava uma anquilose da anca esquerda com um flexo de 35º e uma rigidez em extensão do joelho esquerdo de 20º. Por mecanismo compensatório, instalou-se progressivamento uma hiperlordose lombar, uma bacia oblíqua e um equinismo do pé homolateral. Apesar da terapêutica farmacológica e da instituição de um programa intenso de fisioterapia, verificou-se um agravamento progressivo das deformidades dolorosas da anca e do joelho, condicionando uma marcha só possível com o auxílio de canadianas. Procedeu-se, num primeiro tempo cirúrgico, à implantação de uma prótese total autobloqueante cimentada na anca esquerda e, passados 2 meses, ao desbridamento intra-articular do joelho por via artroscópica. Presentemente a doente deambula sem canadianas, apresenta uma anca e joelho indolores com mobilidades próximas da normalidade, manifestando um grau elevado de satisfação face ao resultado dos procedimentos cirúrgicos. Como conclusão, importa dizer que, por um lado, apesar da idade jovem da doente só uma artroplastia da anca conduz a uma solução satisfatória e, por outro lado, o resultado alcançado pelo desbridamento do joelho por via artroscópica permite um ganho de tempo precioso, em relação à realização de uma eventual artroplastia total do joelho.
- Doença Meningocócica Invasiva: Aplicação do Base Excess and Platelets Score numa Unidade de Cuidados Intensivos Pediátricos PortuguesaPublication . Martins, L; Mação, P; Pinto, C; Dionísio, T; Dias, A; Dinis, A; Carvalho, L; Neves, JFINTRODUCTION: Meningococcal infection has a high mortality and morbidity. Recently a new prognostic scoring system was developed for paediatric invasive meningococcal disease, based on platelet count and base excess â base excess and platelets score. The main objective of this study was to evaluate the accuracy of base excess and platelets score to predict mortality in children admitted to intensive care due to invasive meningococcal disease. MATERIAL AND METHODS: Observational study, with retrospective data collection, during a 13.5 years period (01/2000 to 06/2013). Mortality by invasive meningococcal disease and related factors (organ dysfunction and multi-organ failure) were analysed. The base excess and platelets score was calculated retrospectively, to evaluate its accuracy in predicting mortality and compared with Paediatric Risk of Mortality and Paediatric Index of Mortality2. RESULTS: Were admitted 76 children with invasive meningococcal disease. The most frequent type of dysfunction was cardiovascular (92%), followed by hematologic (55%). Of the total, 47 patients (62%) had criteria for multi-organ failure. The global mortality was 16%. Neurologic and renal dysfunction showed the strongest association with mortality, adjusted odds ratio 315 (26 - 3 804) and 155 (20 - 1 299). After application of receiver operating characteristic curves, Base Excess and Platelets score had an area under curve of 0.81, Paediatric Index of Mortality2 of 0.91 and Paediatric Risk of Mortality of 0.96. DISCUSSION: The Base Excess and Platelets score showed good accuracy, although not as high as Paediatric Risk of Mortality or Paediatric Index of Mortality 2. CONCLUSIONS: The Base Excess and Platelets score may be useful tool in invasive meningococcal disease because is highly sensitive and specific and is objectively measurable and readily available at presentation.
- Galactose Epimerase Deficiency: Expanding the PhenotypePublication . Dias-Costa, F; Ferdinandusse, S; Pinto, C; Dias, A; Keldermans, L; Quelhas, D; Matthijs, G; Mooijer, PA; Diogo, L; Jaeken, J; Garcia, PGalactose 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.
- Hemorragias digestivas altas: cinco anos de experiência do Serviço de Gastrenterologia dos Hospitais da Universidade de CoimbraPublication . Sofia, C; Donato, A; Leitão, M; Gouveia, H; Oliveira, MG; Pimenta, I; Romãozinho, JM; Cantante, J; Chaves, A; Dias, A; Pinto, G; Baptista, E; Ganho, E; Júlio, M; Teixeira, V; Domingos, J; Moules, J; Bilhau, J; Arruda, F; Barbosa, J; Freitas, D; Gouveia-Monteiro, J
- Hipertiroidismo neonatal transitórioPublication . Jerónimo, M; Moinho, R; Nunes-Vicente, I; Oliveira, A; Dias, A; Mimoso, G; Dinis, I; Mirante, A; Faria, DGraves’ disease is the main cause of hyperthyroidism in women of childbearing age. It occurs by the presence of serum immunoglobulins which stimulate the thyrotropin receptor (TRAbs) and may cross the placenta. It has serious consequences when uncontrolled, leading to fetal and/or neonatal hyperthyroidism or hypothyroidism. The authors describe the case of a newborn from a mother with poorly controlled Graves’ disease during pregnancy. He had an uneventful early neonatal period but developed hyperthyroidism in the second week of life. He was treated for two days with propranolol to manage tachycardia and metimazol during 4 months, with favourable clinical and laboratory outcome. During pregnancy, it is essential to control thyroid function and TRAbs in women with Graves’ disease. Newborns should be screened for thyroid function at birth and must have a regular follow up as it allows the diagnosis of transient hyperthyroidism or hypothyroidism and its early treatment, avoiding short and long term complications. Based on this case and literature review, the authors present a proposal of protocol in infants born to mothers with Graves’ disease.
- Hypertension induced by immunosuppressive drugs: a comparative analysis between sirolimus and cyclosporinePublication . Reis, F; Parada, B; Teixeira de Lemos, E; Garrido, P; Dias, A; Piloto, N; Baptista, S; Sereno, J; Eufrásio, P; Costa, E; Rocha-Pereira, P; Santos-Silva, A; Figueiredo, A; Mota, A; Teixeira, FThe purpose of this study was to compare the effects of sirolimus (SRL) vs cyclosporine (CsA) concerning the cardiovascular mechanisms hypothetically contributing to hypertension development. Three rat groups were studied: control (vehicle), CsA (5 mg/kg/d), and SRL (1 mg/kg/d). The following parameters were evaluated after 7 weeks of treatment: blood pressured (BP) and heart rate (HR; tail cuff), lipid profile, hematology, plasma and platelet 5-HT and catecholamines (HPLC-ECD), and oxidative equilibrium (serum malondialdehyde [MDA] and total antioxidant status [TAS]). Systolic (SBP) and diastolic blood pressure (DBP) values were higher (P < .001) in both the CsA (146.2 +/- 4.5 and 124.9 +/- 4.5 mm Hg) and SRL (148.9 +/- 4.8 and 126.4 +/- 6.0 mm Hg) groups vs the controls (115.9 +/- 3.3 and 99.1 +/- 2.0 mm Hg). However, HR values were elevated in CsA but not SRL animals. The dyslipidemic pattern of CsA was even more enhanced in the SRL group, with significantly higher low-density lipoprotein cholesterol (LDL-c) and triglyceride (TG) levels vs CsA (P < .05); red blood cells, hematocrit, hemoglobin concentration, mean platelet volume, and platelet distribution width were significantly (P < .05) higher in the SRL vs CsA group. The pro-oxidative profile (increased MDA/TAS) in the CsA group was not reproduced in the SRL cohort. While plasma and platelet 5-HT were elevated in SRL rats, catecholamine content was higher in CsA animals. In conclusion, this study demonstrated that CsA and SRL produce identical hypertensive effects. However, while CsA promotes oxidative stress and sympathetic activation, SRL mainly interferes with lipid profile and hematological parameters. Thus, the hypertensive effects of CsA, a calcineurin inhibitor, and of SRL, an mTOR inhibitor, are associated with impairment of distinct cardiovascular pathways
- Leishmaniose visceral: experiência de um Centro Pediátrico de Referência 1990-2009Publication . Dionísio, MT; Dias, A; Rodrigues, F; Félix, M; Estevão, MHINTRODUCTION: Visceral Leishmaniasis (VL) is a systemic infection, endemic in many parts of the world, including Portugal. The aim is to review all cases of VL admitted to our hospital. PATIENTS AND METHODS: Retrospective analysis of all cases of VL admitted to a Level III Paediatric Hospital, between January 1990 and December 2009 (20 years). Demographic, epidemiological, clinical, laboratorial, therapeutic and follow-up data were analysed. RESULTS: During the study period, 54 children were admitted with VL, three of which were excluded from the study due to incomplete clinical records. The mean age was 27 months (seven months - twelve years) and 53% were female. Two thirds of the cases were diagnosed during Spring and Summer. The mean time for diagnosis was 31 days (2-188 days). The most common clinical findings were splenomegaly (100%), fever (96%), pallor (90%) and hepatomegaly (82%). Bone marrow aspiration was performed in all children, with amastigotes identified in 73% of the cases. Indirect immunofluorescence was performed in 30 cases, being positive in 29 (97%). All were treated with meglumine antimoniate. Three children relapsed during the first year after the initial episode. A 17 months-old child died due to cardiac failure. CONCLUSIONS: The early diagnosis of VL is essential to carry out prompt management and prevent potential fatal complications. In our analysis, the management with meglumine antimoniate resulted in an overall favourable outcome
- MÓDULO 3 - Neonatologia e Cuidados Intensivos PediátricosPublication . Brito, C; Rodrigues, F; Oliveira, G; Lopes, MF; Brito, MJ; Farela-Neves, J; Ramos, C; Mesquita, J; Lemos, C; Pinto, C; Dionísio, T; Fonseca, M; Taborda, A; Coelho, L; Dinis, A; Resende, C; Faria, D; Morais, S; Mimoso, G; Dias, A
- Pandemia COVID-19 e Impacto no DesportoPublication . Moura, DL; Dias, A; Torres, JP; Farinha, P; Ribeiro, B; Robalo-Cordeiro, C
- Sequelas da COVID-19 Evidência AtualPublication . Moura, DL; Dias, A; Farinha, PM; Farinha, JM; Robalo-Cordeiro, CA epidemia de Coronavirus Disease 2019 disseminou-se pelo mundo em poucos meses, levando à sua designação de pandemia. Múltiplas medidas de saúde pública foram implementadas nos países afetados para conter e mitigar a disseminação da doença. A necessidade de distanciamento físico leva a que esta pandemia tenha um impacto importante na sociedade e particularmente no desporto, provocando cancelamento e adiamento de treinos, competições e eventos. No entanto, o início da pandemia data já de 2019, com preocupações globais, não só na fase aguda da doença com as suas consequências imediatas, mas também com as eventuais sequelas a médio e a longo prazo e o risco de cronicidade de alguns sintomas, em particular na população jovem. Neste artigo revemos a limitada evidência científica atual acerca da relevância clínica das sequelas da COVID-19, em particular do foro respiratório e cardíaco, e finalizamos com recomendações de avaliação das sequelas em atletas e com indicações para regresso seguro à prática desportiva.