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X-linked Hypophosphatemic Rickets: a New Mutation

Maio, P; Mano, L; Rocha, S; Baeta Baptista, R; Francisco, T; Sousa, H; Parente Freixo, J; Abranches, M

Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremarkable family history, who presented with failure to thrive and bowing of the legs. Laboratory tests showed hypophosphatemia...


Hypertension As an Atypical Presentation of Unilateral Ureteral Obstruction

Mantas, P; Baeta Baptista, R; Santos, R; Serrão, AP

Ureteral obstruction (ureteropelvic or ureterovesical junction obstruction) is frequently diagnosed during the workup investigation of an asymptomatic infant or child with upper urinary tract dilatation, commonly identified in a prenatal ultrasound. In older children, recurrent lumbar pain is a red flag for ureteral obstruction. Although less frequent, hypertension may be the initial and only manifestation of u...


Lower Free Triiodothyronine Levels Within the Reference Range Are Associated wi...

Neves, JS; Leitão, L; Baeta Baptista, R; Bigotte Vieira, M; Magriço, R; Viegas Dias, C; Oliveira, A; Falcão-Pires, I; Lourenço, A; Carvalho, D

Thyroid hormones play a central role in cardiovascular homeostasis. Lower free triiodothyronine (FT3) levels have been associated with worse prognosis in several conditions. However, contrary to thyrotropin (TSH) and free thyroxine (FT4), the role of FT3 in morbidity and mortality in the general population remains uncertain. Our objective was to evaluate the association between within the normal range FT3 level...


Choosing Wisely Portugal: a Visão dos Médicos Portugueses

Morgado, M; Alves, M; Reis Carvalho, C; Viegas Dias, C; Cordeiro Sousa, D; Ferreira-dos-Santos, G; Leal, I; Valente Jorge, J; Bigotte Vieira, M


Coexistence of Pheochromocytoma and Renal Artery Stenosis in a Pediatric Patien...

Serras, I; Baeta Baptista, R; Francisco, T; Casimiro, A; Lito, D; Alves, R; Abranches, M

Pheochromocytoma and renal artery stenosis are surgically treatable causes of hypertension. Although rare, the coexistence of pheochromocytoma and renal artery stenosis has been described in case reports. Common pathophysiological mechanisms other than extrinsic compression may be involved in this association, such as catecholamine-induced vasospasm. The early recognition of the association of pheochromocytoma ...


Hidroxiureia (Hidroxicarbamida) na Doença de Células Falciformes

Baeta Baptista, R; Maia, R; Batalha, S; Fernandes, RM; Kjöllerström, P


Analysis of the Cochrane Review: Pharmacotherapy for Hyperuricemia in Hypertens...

Bigotte Vieira, M; Baeta Baptista, R; Costa, J; Vaz-Carneiro, A

Arterial hypertension is a public health problem that affects approximately 25% of the world's adult population. The association between hypertension and hyperuricemia has been shown on epidemiological and experimental studies. However, it is unclear whether lowering serum uric acid might lower blood pressure. This Cochrane systematic review - a revised edition of a previously published one - intended as primar...


Hepatite e Colestase: O Que Escondem as Plantas?

Baeta Baptista, R; Nóbrega, S; Campos, AP; Candeias, F; Brito, MJ

O diagnóstico diferencial de hepatite colestática aguda na criança em idade escolar previamente saudável inclui múltiplas causas, sendo as infeciosas, tóxicas e autoimunes as mais comuns. Descreve-se o caso clínico de um rapaz de 10 anos com icterícia prolongada, eosinofilia e evidência bioquímica de lesão hepática de tipo misto (transaminases, fosfatase alcalina,bilirrubina total e direta elevadas), com gama-g...


Ingestão Medicamentosa Voluntária num Serviço de Urgência de Pedopsiquiatria

Martins, MM; Ganhoto, R; Figueiredo, JG; Baeta Baptista, R; Henriques, C; Caldeira, P; Marques, A; Marques, M


Osteomielite e Sacro-ileíte Abecedada a Aggregatibacter Aphrophilus

Baeta Baptista, R; Candeias, F; Tavares, D; Gouveia, C; Brito, MJ

Introdução: O Aggregatibacter aphrophilus é um cocobacilo Gram negativo do grupo HACEK presente na flora comensal da orofaringe. Foi descrito como agente etiológico de infecções osteo-articulares em adultos. Não existem casos publicados em idade pediátrica. Caso Clínico: Adolescente de 14 anos do sexo masculino, em programa de reabilitação dentária, apresentou-se com febre e lombalgia direita com 2 dias de evol...


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