4 research outputs found

    Attention Deficit Disorder with Hyperactivity symptoms in early-treated phenylketonuria patients

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     ObjectivesTo assess the presence of symptoms consistent with Attention Deficit Disorder with Hyperactivity (ADHD) in all patients with early-treated phenylketonuria (PKU) in the State ofSanta Catarina in southernBrazil.Materials & MethodsAll of the patients diagnosed with PKU by newborn-screening tests, with ages varying from 6 to 18 years and who started treatment before 60 days of life and presented phenylalanine levels consistently below 6 mg/dL throughout treatment, were included. The subjects were invited to complete a questionnaire that collected sociodemographic, gestational and clinical data. ADHD symptoms were assessed using the revision of the Swanson, Nolan and Pelham Questionnaire.Results: A total of 34 patients were evaluated, who were 53% male and 94% white and had an average age of 12 years, and 15% were born premature. According to the Swanson, Nolan and Pelham Questionnaire, 13 patients (38%) met the diagnostic criteria for ADHD, with 2 patients having the inattentive type, 6 patients having the hyperactive or impulsive type and 1 patient having the oppositional defiant disorder type.Conclusion:Although the patients with PKU were regularly treated from birth, there was a high prevalence of symptoms consistent with ADHD. A pathophysiological interface that involves the dopamine metabolic pathway may exist between the two conditions

    Evaluation of patients undergoing to mechanical thrombectomy with extended window for acute ischemic stroke treatment caused by large vessel occlusion of the anterior circulation in a Brazilian public hospital

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    Introdução: A trombectomia mecânica (TM) é tratamento padrão para o acidente vascular (AVC) isquêmico agudo causado pela oclusão de grandes vasos da circulação anterior em até 6 horas do início dos sintomas e pode ser realizada com uma janela estendida de até 24 horas em pacientes selecionados. No entanto, os resultados da TM com janela estendida são desconhecidos nos países em desenvolvimento. Objetivo: Explorar a segurança e eficácia da TM para AVC isquêmico realizada além de 6 horas do início dos sintomas em um hospital público brasileiro. Métodos: Revisamos dados de pacientes com AVC isquêmico tratados com TM além de 6 horas do início dos sintomas, de 2015 a 2018 em um hospital público brasileiro. Os pacientes apresentavam uma oclusão da artéria carótida interna intracraniana e/ou segmento proximal da artéria cerebral média. A TC Perfusão foi avaliada usando o software RAPID®. Avaliamos a escala modificada de Rankin (emR) e mortalidade em 90 dias, e taxa de transformação hemorrágica (TH) sintomática. Resultados: Cinquenta e quatro pacientes foram incluídos, com idade média de 65.6 ± 16.1 anos, 55.6% eram do sexo masculino, e o escore NIHSS mediano na apresentação foi 17. Recanalização bem sucedida (TICI 2b a 3) foi obtida em 92.6% dos pacientes e a taxa de transformação hemorrágica (TH) sintomática foi de 11.1%. No geral, 34% dos pacientes tiveram um bom resultado (emR ≤2) em 90 dias e a taxa de mortalidade foi de 20.3%. Conclusão: Nosso estudo, a primeira série de TM para AVC isquêmico tratado com janela estendida relatada na América Latina, mostra que a TM pode ser realizada com segurança e levar a resultados funcionais adequados neste contexto. Novos estudos devem explorar as barreiras para uma ampla implementação de TM para AVC isquêmico na América Latina.Background: Mechanical thrombectomy (MT) is the standard of care for acute ischemic stroke (AIS) caused by large vessel occlusion of the anterior circulation within 6 hours of symptoms onset and can be performed with an extended window up to 24 hours in selected patients. Nevertheless, the outcomes of MT with extended window are unknown in developing countries. Objective: Explore the safety and efficacy of MT for AIS performed beyond 6 hours from symptoms onset in a Brazilian public hospital. Methods: We reviewed data from AIS patients treated with MT beyond 6 hours of stroke onset, from 2015 to 2018 in a Brazilian public hospital. Patients had an occlusion of the intracranial internal carotid artery and/or proximal segment of the middle cerebral artery. CT Perfusion mismatch was evaluated using the RAPID® software. We evaluated the modified Rankin scale (mRS) and mortality at 90 days, and rate of symptomatic intracranial hemorrhage (sICH). Results: Fifty-four patients were included, with a mean age of 65.6 ± 16.1 years, 55.6% were male, and the median NIHSS score at presentation was 17. Successful recanalization (TICI 2b to 3) was obtained in 92.6% of patients and sICH rate was 11.1%. Overall, 34% of the patients had a good outcome (mRS ≤2) at 90 days and the mortality rate was 20.3%. Conclusion: Our study, the first series of MT for AIS treated with extended window reported in Latin America, shows that MT can be performed with safety and lead to adequate functional outcomes in this context. Further studies should explore the barriers to broad implementation of MT for AIS in Latin America

    Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough?

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    Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with treatment may result in damage of the brain function. Brain abnormalities can be seen on magnetic resonance imaging of these individuals. Studies indicate that the appearance of abnormalities in white matter reflects high levels of phenylalanine on the blood. This case will show the clinical and neuroradiological aspects of a teenager with constant control of phenylalanine levels. Despite the continuous monitoring and early treatment, the magnetic resonance imaging identified impressive abnormalities in the white matter. This leads us to one question: is the restriction of phenylalanine sufficient to prevent changes in the white matter in patients with phenylketonuria
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