Os autores apresentam um caso clínico de Pancreatite Aguda Hemorrágica, de provável etiologia idiopática, numa criança de 10 meses, que se manifestou inicialmente por vómitos, e alteração do estado de consciência e posteriormente por abdómen agudo. O diagnóstico foi feito durante a laparotomia. Houve boa evolução clínica. Como complicações, refere-se o aparecimento de dois pseudoquistos pancreáticos que regredi...
Pathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygo...
1º Prémio da comunicação livre ; A incidência de doença crónica na idade pediátrica tem vindo nos últimos anos a aumentar devido às alterações dos padrões de morbilidade na infância, resultantes dos avanços tecnológicos e científicos na área da saúde materno-infantil, sendo que o seu diagnóstico inaugural é habitualmente feito em contexto hospitalar e em regime de internamento. Independentemente da natureza d...
Desde o seu reconhecimento na década de 80, a infecção por VIH atingiu já 65 milhões de pessoas, em todo o mundo. A presença do vírus no SNC acontece na maioria dos doentes afectados, sendo cada vez mais identificadas perturbações neuropsiquiátricas associadas à infecção e/ou ao tratamento com ARV. Este artigo pretende rever sumariamente a neuropatogénese e as alterações neuropsiquiátricas associadas à infecção...
Dermatofibroma is one of the most common entities seen in dermatology clinical practice. Several clinical subtypes have nevertheless been described, all of them of uncommon occurrence. The authors present two rare clinical variants of dermatofibromas: congenital multiple clustered dermatofibroma (the presented case is the 4th congenital case to be reported so far) and multiple eruptive dermatofibromas developin...
Crohn's disease is a multisystem chronic granulomatous inflammatory disease that primarily affects the gastrointestinal tract. In the majority of the cases, the cutaneous manifestations follow the intestinal disease, but occasionally dermatological lesions are the inaugural event and may constitute the only sign of the disease. Vulvoperineal involvement is rare, may precede bowel symptoms by months to years and...
PoolLiveAid is an augmented reality tool designed to assist unskilled or amateur pool, or snooker or billiards players in predicting trajectories. A camera placed above the table acquires and processes the game on-the-fly. The system detects the table border, the ball's position an the pool cue direction in order to compute the predictable trajectory of the white ball, and the ball directly in its trajectory. T...
Strychnine acts as an inhibitor of post-synaptic neuronal inhibition and intoxication leads to distinct clinical manifestations which may culminate in death. Since its commercialization is prohibited in most countries, cases of strychnine intoxication are now rare. We present a case of an elderly patient who voluntarily ingested a white powder thought to be strychnine. He developed myoclonus, startle response, ...
Behçet disease is a chronic relapsing systemic disease with possible life-threatening presentations. Management of this disease can be challenging and reports of the off-label use of anti-TNFα agents for the treatment of severe manifestations are increasing, with good results. The authors report a case of Behçet disease with a sudden and severe multi-systemic onset successfully treated with infliximab.
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