Introdução: Apenas 5-10% dos casos de câncer de mama estão relacionados a variantes genéticas herdadas e mutações nos genes BRCA1 e BRCA2, relacionadas à Síndrome do câncer de mama e ovário hereditário (SMOH), são identificadas na maioria desses casos. Além dos genes BRCA1 e BRCA2, outros g...
A medicina de precisão, ou medicina personalizada, é a customização de tratamento médico com base na capacidade de classificar indivíduos em subpopulações que diferem na susceptibilidade a uma determinada doença ou na resposta a um tratamento específico. Essa nova percepção sobre a forma de d...
Introducción: La irrupción de la investigación genética en la esfera del deporte ha permitido la localización en el genoma de un considerable número de genes implicados en el rendimiento deportivo y, con ello, el desarrollo de tecnologías genéticas orientadas a la identificación del potencial at...
For many years, the cerebellum was thought to be only responsible for balance, movement, planning and execution. Nowadays, it is well accepted that most cerebellar connections are involved in non-motor functions. Herein, we provide a case report in which a 27-year-old Brazilian male, diagnosed with Obses...
Neoplasias de la Mama/genética,
Neoplasias de la Mama/prevención & control,
Neoplasias de las Trompas Uterinas/genética,
Genes BRCA1,
Genes BRCA2,
Asesoramiento Genético,
Predisposición Genética a la Enfermedad,
Pruebas Genéticas,
Mutación,
Neoplasias Ováricas/genética,
Neoplasias Ováricas/prevención & control,
Neoplasias Peritoneales/genética,
Medición de Riesgo
ABSTRACT Purposes: To evaluate the sensitivity, specificity, and cutoff points for the ROPScore, which is based on cumulative risk factors for the prediction of retinopathy of prematurity (ROP), in a population of very low birth weight (BW) preterm infants in southern Brazil. Methods: The medical recor...
Brasil,
Pruebas Genéticas,
Edad Gestacional,
Recién Nacido de muy Bajo Peso,
Registros Médicos,
Periodo Posparto,
Retinopatía de la Prematuridad/diagnóstico,
Estudios Retrospectivos,
Medición de Riesgo,
Factores de Riesgo,
Índice de Severidad de la Enfermedad,
Factores de Tiempo
Abstract This article examines the origins of the term "genetic disease." In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar "predisposition" was replaced by the view that such diseases have specific causes, while Mendelian genetics provid...
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the con...
Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutatio...
Abstract Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data ...
