Publications by authors named "V R Aldana"

Article Synopsis
  • CEDNIK syndrome is a rare genetic disorder characterized by a combination of brain abnormalities, nerve issues, skin conditions, and developmental delays, linked to mutations in the SNAP29 protein.
  • The syndrome follows an autosomal recessive inheritance pattern and exhibits significant phenotypic variation, meaning symptoms can vary widely between patients.
  • This case study focuses on a four-month-old male presenting with multiple medical challenges, including failure to thrive, and aims to discuss the underlying mechanisms, disease progression, and how this specific case relates to existing literature on CEDNIK syndrome.
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The vast majority of transcatheter valve-in-valve (ViV) mitral procedures have been reported with the SAPIEN family. We aimed to report the preliminary experience with the Myval balloon-expandable device in this setting. Multicenter retrospective study of high-risk surgical patients with mitral bioprosthesis degeneration undergoing transcatheter ViV implantation with Myval device.

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The term vasculogenic mimicry (VM) refers to the capacity of certain cancer cells to form fluid-conducting structures within a tumor in an endothelial cell (EC)-free manner. Ever since its first report by Maniotis in 1999, the existence of VM has been an extremely contentious issue. The overwhelming consensus of the literature suggests that VM is frequently observed in highly aggressive tumors and correlates to lower patient survival.

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Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa.

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