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Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético

Martins, R; Moldovan, O; Sousa, AB; Levy, A; Quintas, S

INTRODUCTION: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epilept...


Neurodevelopmental Outcome Predictors of Term Newborns With Neonatal Seizures

Martins, R; Coelho, J; Santos, T; Moreno, T; Quintas, S; Levy, A

Introduction: The concrete burden of neonatal seizures in neurodevelopmental outcome of term newborns is still unknown in literature. The aim of this study was to describe prognostic predictors in neonatal seizures. Subjects and methods: Observational prospective study of term neonates with clinical seizures from a tertiary center (2009-2018). Adverse outcome was determined as death, global developmental delay,...


Extensive Linear Scleroderma en Coup De Sabre With Exertion-Induced Hemiplegic ...

Martins, M; Quintas, S; Coelho, J; Santos, T; Levy, A

We report the case of a 9-year-old girl with linear scleroderma en coup de sabre (LSCS) who developed progressive white matter involvement, presenting as intractable hemiplegic migraine-like attacks induced by exercise. After a period of severely aggressive course, clinical and radiological stabilization was achieved under immunosuppressant treatment. Intrathecal synthesis of IgG and lymphocytic pleocytosis pro...


Cerebral sinovenous thrombosis in children: clinical presentation and extension...

Vieira, J; Luis, C; Monteiro, J; Temudo, T; Campos, M; Quintas, S; Nunes, S

Many important questions regarding pathophysiology and treatment of cerebral sinovenous thrombosis need clarification and may depend on further knowledge on the etiology, site, extension and recanalization of the thrombosis. We studied these variables in a cohort of children and adolescents from seven Portuguese Centers. We conclude from our results that the deep venous system and the superior longitudinal sinu...


Cerebral Sinovenous Thrombosis in Children: Clinical Presentation and Extension...

Vieira, JP; Luis, C; Monteiro, JP; Temudo, T; Campos, MM; Quintas, S; Nunes, S

Many important questions regarding pathophysiology and treatment of cerebral sinovenous thrombosis need clarification and may depend on further knowledge on the etiology, site, extension and recanalization of the thrombosis. We studied these variables in a cohort of children and adolescents from seven Portuguese Centers. We conclude from our results that the deep venous system and the superior longitudinal sinu...


Lyell's syndrome in an AIDS patient.

Quintas, S; do Carmo, G; Gama, R; Norberto, A; Xavier, R; Coutinho, B S

Toxic epidermal necrolysis (TEN), or Lyell's syndrome, is a rare cutaneous reaction, most often drug related with drugs such as sulfonamides, non-steroidal anti-inflammatory drugs, anti-convulsants and allopurinol. It is characterised by extensive mucocutaneous detachment and usually associated with severe constitutional symptoms. The mortality rate is about 20-66%. The incidence of TEN is increasing among HIV-...

Date: 1997   |   Origin: Acta Médica Portuguesa

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