ABSTRACT The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here Case 1 was of a 54-year-old woman with bilateral atrophy of the perifoveal retinal pigmentary epithelium and choriocapillaris with central foveolar respect. Autofluorescence and fluorescein angiography revealed perifoveal atrophy of the retinal pigmentary epithelium with an annular window effect without the “dark choroid” sign. Case 2 (mother of Case 1) presented with extensive atrophy of the retinal pigmentary epithelium and choriocapillaris. PRPH2 was evaluated and the c.582-1G>A mutation was identified in heterozygosity. An advanced adult-onset benign concentric annular macular dystrophy diagnosis was thereby proposed. The c.582-1G>A mutation is poorly known and not present in all common genomic databases. This case report is the first one to report a c.582-1G>A mutation associated with benign concentric annular macular dystrophy.

RESUMO Mutações do gene da periferina (PRPH2) estão associadas à disfunção das células fotorreceptoras e estão envolvidas em várias distrofias retinianas hereditárias. A mutação c.582-1G>A do gene PRPH2 é uma variante rara, relatada na retinite pigmentosa e nas distrofias em padrão. O caso 1 foi de uma mulher de 54 anos com atrofia bilateral do epitélio pigmentar da retina perifoveal e da coriocapilar, com acometimento foveolar central. A autofluorescência e a angiofluoresceinografia revelaram atrofia perifoveal do epitélio pigmentar da retina, com efeito de janela anular, sem o sinal da “coroide escura”. O caso 2 (mãe) apresentava extensa atrofia do epitélio pigmentar da retina e da coriocapilar. Foi feito um estudo do gene PRPH2, que identificou a mutação c.582-1G>A em heterozigose. Foi proposto um diagnóstico de distrofia macular anular concêntrica benigna de início adulto em estágio avançado. A mutação c.582-1G>A é pouco conhecida e não está presente em todos os bancos de dados genômicos usuais. Este é o primeiro relato de caso publicado de uma mutação c.582-1G>A associada à distrofia macular anular concêntrica benigna.

RESUMO Mutações do gene da periferina (PRPH2) estão associadas à disfunção das células fotorreceptoras e estão envolvidas em várias distrofias retinianas hereditárias. A mutação c.582-1G>A do gene PRPH2 é uma variante rara, relatada na retinite pigmentosa e nas distrofias em padrão. O caso 1 foi de uma mulher de 54 anos com atrofia bilateral do epitélio pigmentar da retina perifoveal e da coriocapilar, com acometimento foveolar central. A autofluorescência e a angiofluoresceinografia revelaram atrofia perifoveal do epitélio pigmentar da retina, com efeito de janela anular, sem o sinal da “coroide escura”. O caso 2 (mãe) apresentava extensa atrofia do epitélio pigmentar da retina e da coriocapilar. Foi feito um estudo do gene PRPH2, que identificou a mutação c.582-1G>A em heterozigose. Foi proposto um diagnóstico de distrofia macular anular concêntrica benigna de início adulto em estágio avançado. A mutação c.582-1G>A é pouco conhecida e não está presente em todos os bancos de dados genômicos usuais. Este é o primeiro relato de caso publicado de uma mutação c.582-1G>A associada à distrofia macular anular concêntrica benigna.

ABSTRACT The peripherin gene (PRPH2) mutation is associated with photoreceptor cell dysfunction as well as in several inherited retinal dystrophies. The PRPH2 mutation c.582-1G>A is a rare variant reported in retinitis pigmentosa and pattern dystrophy. Here Case 1 was of a 54-year-old woman with bilateral atrophy of the perifoveal retinal pigmentary epithelium and choriocapillaris with central foveolar respect. Autofluorescence and fluorescein angiography revealed perifoveal atrophy of the retinal pigmentary epithelium with an annular window effect without the “dark choroid” sign. Case 2 (mother of Case 1) presented with extensive atrophy of the retinal pigmentary epithelium and choriocapillaris. PRPH2 was evaluated and the c.582-1G>A mutation was identified in heterozygosity. An advanced adult-onset benign concentric annular macular dystrophy diagnosis was thereby proposed. The c.582-1G>A mutation is poorly known and not present in all common genomic databases. This case report is the first one to report a c.582-1G>A mutation associated with benign concentric annular macular dystrophy.

ABSTRACT The COVID-19 pandemic has stopped face-to-face medical education; therefore, greater importance has been given to distance medical education. This has provoked a debate about what the best actions to follow are. Hence, it is important to review the strategies implemented in several medical schools during previous epidemics and, based on this, make proposals in line with the Latin American reality, taking into account the distinction between preclinical and clinical courses. In Latin America, the proposals to achieve adequate distance medical education in the present scenario are the inclusion and use of virtual tool courses, the implementation of problem-based learning, distance interaction with the professor through online communication media, to avoid excessive use of recorded classes, adequate broadband access, and to overcome the professor’s resistance to using information and communication technologies in medical education, seeking interaction and close communication with students.

RESUMEN La pandemia COVID-19 ha ocasionado la suspensión de la educación médica presencial, por lo que se le ha otorgado mayor importancia a la educación médica a distancia. Esto ha producido un debate sobre cuáles son las mejores acciones a seguir. De ahí que sea importante revisar las estrategias implementadas en diversas escuelas de medicina durante epidemias previas y, a partir de ello, plantear propuestas acordes con la realidad latinoamericana, tomando en cuenta la distinción entre cursos preclínicos y clínicos. En Latinoamérica, las propuestas para lograr una adecuada enseñanza médica a distancia en el presente escenario son: la inclusión y el uso de cursos de herramientas virtuales, la implementación del aprendizaje basado en problemas, la interacción a distancia con el docente a través de medios de comunicación en línea, evitar el uso excesivo de clases grabadas, el adecuado acceso de banda ancha y vencer la resistencia docente al uso de tecnologías de la información y la comunicación en la educación médica, para buscar la interactividad y comunicación estrecha con los alumnos.

Abstract We report an unusual case of a 53-year-old male with fistula, ectropion and lagophthalmos due to lateral frontal rhinosinusitis. Two years ago, he presented soft erythematous swelling at internal epicanthus. A year and a half before, he presented upper eyelid fistula secretion drainage, cicatricial ectropion and lagophthalmos. No otorhinolaryngological or visual discomfort was reported. Ophthalmology performed ectropion surgical repair using skin grafting, with no improvement. They requested magnetic resonance imaging which showed a suggestive image of frontal lateral sinusitis, being transferred to the Otorhinolaryngology service. External and endoscopic nasal surgery was performed, which resolved the sinus pathology with good evolution.

Resumen Se informa un inusual caso de un varón de 53 años, con fístula, ectropión y lagoftalmos derecho debido a rinosinusitis crónica frontal lateral. Dos años antes presentó tumefacción blanda y eritematosa en el epicanto interno. Un año y medio antes tuvo drenaje de secreción por fístula en el párpado superior, ectropión cicatrizal superomedial y lagoftamos ipsilateral, sin molestias otorrinolaringológicas ni alteración visual. El Servicio de Oftalmología realizó reparación quirúrgica mediante injerto de piel, sin mostrar mejoría, por lo que se solicitó resonancia magnética, que evidenció imagen indicativa de sinusitis frontal lateral derecha y fue transferido al Servicio de Otorrinolaringología. Se practicó una cirugía externa y endoscópica, que resolvió la afección sinusal, con buena evolución.

Abstract This paper analyzes the feasibility of the implementation of SPRINT trial results, the need to rethink the clinical practice guidelines(CPG) for the management of arterial hypertension and associated costs with daily practice applicability. SPRINT is a clinical trial comparing systolic blood pressure control <120 mmHg and <140 mmHg over cardiovascular complications, generating a great worldwide impact followed by publication of several studies that addressed relevance, usefulness, applicability and controversial aspects of SPRINT from different perspectives. Achieving blood pressure goals is one of the most discussed issue in widely used hypertension CPG around the world and in Latin American. SPRINT has generated and will generate a great impact on CPG, being necessary the reassessment of blood pressure goals and inclusion in future CPG, as has been considered in 2016 Canadian guideline and will be considered in NICE guideline update scheduled for June. The SPRINT trial raises new evidence for the management of hypertension, useful in people over 50 years, from urban populations, with defined cardiovascular risk without associated comorbidities. The applicability of SPRINT in Latin America is limited by increased costs associated with hypertensive patients’ integrated health care, low care coverage, and lack of integrated care programs.

Resumen El presente documento analiza la factibilidad de la implementación de los resultados del ensayo clínico SPRINT, la necesidad de replantear las guías de práctica clínica (GPC) para el manejo de la hipertensión arterial y los costos asociados a su aplicabilidad en la práctica diaria. El SPRINT es un ensayo clínico que comparó el control intensivo de la presión arterial sistólica <120 mmHg y <140 mmHg sobre las complicaciones cardiovasculares, generando un gran impacto en el mundo seguido de la publicación de diversos estudios que han abordado desde diversas perspectivas la relevancia, utilidad, aplicabilidad y aspectos controversiales del SPRINT. El logro de la presión arterial meta es uno de los temas más discutidos en las GPC de hipertensión arterial de mayor uso a nivel mundial y latinoamericano. El SPRINT ha generado y generará un gran impacto en las GPC, siendo necesaria la reevaluación de las presiones arteriales meta y su inclusión en las GPC futuras, como ha sido considerado por la guía canadiense 2016 y será considerado en la actualización de la Guía NICE programada para junio. El ensayo SPRINT plantea nuevas evidencias para el manejo de la hipertensión arterial, útil en personas mayores de 50 años, procedentes de poblaciones urbanas, con riesgo cardiovascular definido y sin comorbilidades asociadas. La aplicabilidad del SPRINT en Latinoamérica es limitada por el aumento de costos asociados a la atención de salud integral del paciente hipertenso, la baja cobertura de atención y escasez de programas integrales de atención.