Ocular manifestations in classic homocystinuria.

BACKGROUND: Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography. RESULTS: Ten patients with HCU (20 eyes) were included. The most frequent findings were ectopia lentis(n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism. CONCLUSIONS: Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU.

Avaliação do diagnóstico de morte encefálica em diferentes regiões do mundo / Evaluation of brain death diagnosis around the world

Objetivos: Descrever critérios diagnósticos adotados para morte encefálica nos Estados Unidos, em países da Europa e comparar com os critérios brasileiros revisados em 2017. Métodos: Esse estudo constitui- -se de uma revisão de literatura utilizando as bases de dados Pubmed e LILACS dentro do período de 2013 a 2018. Foram incluídos também a Resolução nº 2.173/2017, do Conselho Federal de Medicina (CFM) e o guideline da Academia Americana de Neurologia (AAN). Resultados: Brasil, Estados Unidos da América (EUA) e alguns países da Europa possuem em sua legislação a definição e a obrigatoriedade de diagnosticar a morte encefálica. Os países diferem sobre os pré-requisitos para se iniciar os procedimentos de determinação de morte encefálica (ME) e quanto ao tempo de observação desde o momento da internação até o momento do exame. Brasil, EUA e Europa têm como aspecto central do diagnóstico de ME o exame clínico. Todos eles exigem a realização dos testes de ausência de reflexos do tronco encefálico. O teste de apneia é realizado apenas uma vez durante o protocolo em todos os países pesquisados. Os exames complementares são exigidos pelo Brasil e Europa. Em alguns países europeus, a obrigatoriedade é para o eletroencefalograma (EEG). Nos EUA, os testes auxiliares não são necessários para o diagnóstico de ME. Conclusão: O conceito de morte encefálica já é padronizado; contudo, há diferenças nos testes de diagnósticos e no modo que são aplicados. Embora exista um protocolo instituído no Brasil, existem falhas na qualificação dos profissionais aptos a realizarem o diagnóstico de morte encefálica. Dessa maneira, é fundamental a inserção do tema já no meio acadêmico dos estudantes da área da saúde.

Aims: To describe diagnostic criteria used to determine brain death in the United States of America and in some European countries, and compare them with the Brazilian criteria, reviewed in 2017. Methods: This article is a literature review using the Pubmed and LILACS databases from 2013 to 2018. Were also included the Resolution No. 2,173 / 2017 of the Federal Council of Medicine (CFM) and the guideline of the American Academy of Neurology (AAN). Results: Brazil, United States and some European countries have legislation concerning the definition of brain death and the obligation to diagnose it. The countries differ on the prerequisites for initiating procedures for BD determination, regarding observation time from the admission to the examination. Brazil, USA and Europe have clinical examination as central aspect of the diagnosis of BD. All of them require test of absence of brainstem reflexes. The apnea test is performed only once during the protocol in all countries surveyed. Complementary exams are required by both Brazil and Europe; in some European countries, this obligation concerns the EEG in particular. In USA, ancillary tests are not necessary for the diagnosis of BD. Conclusions: The concept of brain death has already been standardized, however, there are differences in the diagnostic tests and the way they are applied. Although there is a protocol established in Brazil, there are shortcomings in the qualification of professionals capable of performing the diagnosis of brain death. Thus, it is fundamental to insert this subject in the health students academic environment.