Publications by authors named "A Romero Berrocal"

To report a case of macular chorioretinal atrophy associated with Stickler syndrome in a pediatric patient with a genetically confirmed mutation. A single case was evaluated. A 3-year-old girl was found to have macular chorioretinal atrophy in the right eye and a retinal detachment in the left eye.

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To understand the environmental burden associated with intravitreal injections (IVIs) and propose actionable solutions to mitigate this impact. An analysis of current IVI practices was conducted, focusing on packaging waste, energy consumption, the carbon footprint, and disposal processes. Data on the environmental footprint of IVIs were collected from the literature and industry reports.

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Background: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.

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Article Synopsis
  • - Transcription occurs in bursts, with gene promoters toggling between active and inactive states, and enhancers play a crucial role by affecting how often, how long, and how intensely these bursts happen in animal development.
  • - Research shows that various enhancers can produce different levels of transcription using similar burst-control techniques, including increasing burst frequency and amplitude while keeping duration steady.
  • - A study comparing transcription patterns in natural and artificial contexts revealed that enhancers maintain consistent bursting strategies, suggesting a shared molecular mechanism influencing these patterns across different regulatory environments.
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