Background: Previous studies have demonstrated that the Naples Prognostic Score (NPS) provides strategic direction in the prognosis of malignant illness. Nevertheless, its relationship with chronic obstructive pulmonary disease (COPD) remains underexplored. Therefore, additional research specifically focusing on the relationship between the Naples Prognostic Score and COPD is necessary to determine its widespread applicability.
View Article and Find Full Text PDFBackground: Olmsted syndrome (OS) is a rare genodermatosis predominantly inherited in an autosomal dominant manner, typically arising from gain-of-function (GOF) variants in the transient receptor potential channel vanilloid 3 (TRPV3) gene.
Objective: This study aims to investigate potential mechanisms underlying OS in two cases presenting with an autosomal recessive inheritance pattern.
Methods: Next-generation sequencing panel was employed to identify TRPV3 variants.
1. We extend the spectrum of SERPINA12 variants in palmoplantar keratodermas. 2.
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