Publications by authors named "L Madariaga"
Laryngotracheal stenosis (LTS) encompasses a spectrum of conditions characterized by the luminal narrowing of the supraglottis, glottis, subglottis, and/or trachea. However, endoscopic treatment methods are associated with significantly higher rates of restenosis compared to open techniques. The number of endoscopic modalities continues to expand without a clear consensus on the most appropriate treatment choice.
View Article and Find Full Text PDFGenetic profile of a large Spanish cohort with hypercalcemia.
Front Endocrinol (Lausanne)
April 2024
Article Synopsis
- - The study focuses on disorders related to calcium metabolism, often presenting vague symptoms or primarily detectable through lab tests showing hypercalcemia.
- - Researchers analyzed 79 patients with hypercalcemia using next-generation sequencing and found that 30% had genetic variants linked to the condition, confirming diagnoses in various hypercalcemia-related syndromes.
- - The findings underscore the value of genetic sequencing in providing accurate diagnoses and informing treatment, emphasizing the need to identify at-risk family members for better health outcomes.
Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg transport.
View Article and Find Full Text PDFIncidence and prevalence of urolithiasis is apparently increasing worldwide, also among children and adolescents. Nevertheless, robust data have only been obtained in a few countries. In Spain, a voluntary Registry for Pediatric Renal Lithiasis has been active since 2015.
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