Publications by authors named "Leonor Fayos de Arizon"

Background: Clinical variability among individuals with heterozygous pathogenic/likely pathogenic (P/LP) variants in the COL4A3/COL4A4 genes (also called autosomal dominant Alport syndrome or COL4A3/COL4A4-related disorder) is huge; many individuals are asymptomatic or show microhematuria, while others may develop proteinuria and chronic kidney disease (CKD). The prevalence of simple kidney cysts (KC) in the general population varies according to age, and patients with advanced CKD are prone to have them. A possible association between heterozygous COL4A3, COL4A4 and COL4A5 P/LP variants and KC has been described in small cohorts.

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Artificial intelligence (AI) is a science that involves creating machines that can imitate human intelligence and learn. AI is ubiquitous in our daily lives, from search engines like Google to home assistants like Alexa and, more recently, OpenAI with its chatbot. AI can improve clinical care and research, but its use requires a solid understanding of its fundamentals, the promises and perils of algorithmic fairness, the barriers and solutions to its clinical implementation, and the pathways to developing an AI-competent workforce.

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Background: Neurotoxicity secondary to anticalcineurinics is a prevalent side effect in transplant recipients. Optical coherence tomography (OCT) scans the central nervous system by direct access to the retina. OCT assesses central nervous system involvement by measuring the thickness of the retinal layers, especially the ganglion cell layer (GCL).

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This study reports a case of a 13-year-old male with a 3-year history of severe and intermittent hypokalemia episodes of unknown origin, requiring admission to the intensive care unit (ICU) for long QT syndrome (LQTS), finally diagnosed of redistributive hypokalemia secondary to the abuse of β-adrenergic agonists in the context of a probable factitious disorder.

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