Publications by authors named "E Carbajo Ferre"

Verticality is the perception of what's upright relative to gravity. The vestibular system provides information about the head's orientation relative to gravity, while visual cues influence the perception of external objects' alignment with the vertical. According to Bayesian integration, the perception of verticality depends on the relative reliability of visual and vestibular cues.

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The dimensions of objects and our body parts influence our perception of the weight of objects in our surroundings. It has been recently described a dramatic underestimation of the perceived weight of the hand. However, little is known on how perceived size informs the perceived weight of our own body parts.

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Research on media's effects on body perception has mainly focused on the role of vision of extreme body types. However, haptics is a major part of the way children experience bodies. Playing with unrealistically thin dolls has been linked to the emergence of body image concerns, but the perceptual mechanisms remain unknown.

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Article Synopsis
  • APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
  • Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
  • They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
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Emicizumab is a bispecific antibody that mimics the function of factor VIII (FVIII) and is indicated for prophylactic use in patients with congenital hemophilia A with or without inhibitors. Acquired hemophilia A (AHA) is a rare and severe disorder causes by autoantibodies that inhibit FVIII. In AHA, acute bleeding are managed with bypassing agents but several reports described the off-label use of emicizumab.

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