Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo.

Purine-rich element-binding protein A (PURα) regulates multiple cellular processes. Rare de novo mutations can lead to PURA syndrome, which manifests as a range of multisystem disturbances, including hypotonia, global developmental delay, swallowing disorders, apnea, seizures, visual impairments, and congenital heart defects. We report the case of a Colombian girl with no relevant medical history who was diagnosed with PURA syndrome at the age of 7, due to a heterozygous mutation located at 5q31.2, specifically the variant c.697_699del (p.Phe233del), in exon 1 of the PURA gene. This represents the first documented case of PURA syndrome in South America and the first association of the syndrome with vitiligo, thereby expanding the known phenotypic spectrum. In addition to enriching the literature concerning the phenotypic diversity of PURA syndrome, this report highlights, for the first time, the diagnostic challenges faced by developing countries like Colombia in diagnosing high-burden rare diseases such as PURA syndrome.

Eutanasia y estigma: ¿El derecho a la muerte digna es contrario a la ley universal? / Euthanasia and stigma: is the right to a dignified death contrary to universal law?

Resumen: La palabra eutanasia (del griego "eu" (bueno o feliz) y "thanatos" (muerte)( designa a un procedimiento cuestionado por múltiples grupos sociales y religiosos. Las personas que la practican, como sus familias, son estigmatizados por sus detractores. A pesar de que Colombia es uno de los pocos países que ha regulado esta práctica desde el 2015, incluso permitiéndola en menores, el proyecto de ley no ha pasado los debates en el Congreso, y los intentos de acceder a él se ven frustrados por trámites burocráticos (1). Este artículo de reflexión tiene como objetivo abordar el concepto de la eutanasia desde la filosofía, historia, medicina y la jurisprudencia.

Abstract: The word euthanasia (from the Greek "eu" (good or happy) and "thanatos" (death)) designates a procedure questioned by multiple social and religious groups. The people who practice it, like their families, are stigmatized by their detractors. Despite the fact that Colombia is one of the few countries that has regulated this practice since 2015, even allowing it in minors, the bill has not passed the debates in Congress, and attempts to access it are frustrated by procedures bureaucratic (1). This reflection article aims to address the concept of euthanasia from philosophy, history, medicine, and jurisprudence.