Publications by authors named "A. Del Pozo"

Intraventricular hemorrhage (IVH) is an important cause of long-term disability in extremely preterm infants, with no current treatment. This study assessed the potential neuroprotective effects of cannabidiol (CBD) in an IVH model using immature rats. IVH was induced in 1-day-old (P1) Wistar rats by left periventricular injection of Clostridial collagenase.

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Article Synopsis
  • Germline loss-of-function variants in the CTNNB1 gene are linked to neurodevelopmental disorders that include spastic diplegia and visual issues, making them a common genetic cause of cerebral palsy (CP).
  • A study analyzed genetic data from 404 individuals with pathogenic CTNNB1 variants, including newly detailed phenotypes for 52 cases, to explore how these variants relate to CP and other traits.
  • Findings showed that individuals with CTNNB1 variants exhibited similar clinical features, suggesting that CP is part of the neurodevelopmental disorder spectrum rather than a separate condition; two specific variants were found to disrupt WNT signaling processes.
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In most cases, cochlear implantation is a straightforward procedure. Nevertheless, there are clinical situations in which the presence of the middle ear may compromise access and/or the outcome in terms of complications. This article includes a series of patients for whom we eliminated the middle ear to facilitate placement of the electrode array of the implant and/or reduce potential complications.

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X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we describe the case of a sporadic female patient with suspicion of centronuclear myopathy and a heterozygous large deletion at Xq28 encompassing the MAMLD1, MTM1, MTMR1, CD99L2, and HMGB3 genes.

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Lung impairment is the most life-threatening factor for cystic fibrosis patients. Indeed, Pseudomonas aeruginosa is the main pathogen in the pulmonary infection of these patients. In this work, we developed sodium colistimethate loaded lipid nanoparticles, namely, solid lipid nanoparticles (SLN) and nanostructured lipid carriers (NLC), as a strategy to enhance the antimicrobial therapy against P.

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