Publications by authors named "Maria Angelica Henriquez-Recine"

Unlabelled: Optic nerve sheath diameter (ONSD) ultrasound has proven to be a useful tool for the detection of intracranial hypertension (IH). The DVNO values, in patients with cessation of cerebral blood flow (CCBF), has not been clarified yet.

Objective: Establish an association between DVNO and CFSC in neurocritical patients admitted to an ICU.

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Unlabelled: Optic nerve sheath diameter (ONSD) ultrasound has proven to be a useful tool for the detection of intracranial hypertension (IH). The ONSD values, in patients with cessation of cerebral blood flow (CCBF), has not been clarified yet.

Objective: Establish an association between ONSD and CCBF in neurocritical patients admitted to an ICU.

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Article Synopsis
  • - The study investigates three unreported families with punctiform and polychromatic pre-Descemet corneal dystrophy (PPPCD), examining clinical features and genetic factors associated with the condition.
  • - Researchers performed extensive ocular assessments, whole exome sequencing, and Sanger sequencing, identifying a significant increase in corneal stiffness and two specific genetic variants linked to PPPCD across the families.
  • - Findings suggest that PPPCD affects corneal biomechanics and is linked to a novel variant in the PRDX3 gene; further screening of additional families is needed to explore the genetic complexity of the disorder.
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Purpose: To describe and analyze the biomicroscopic features and in vivo confocal microscopy of the crystalline form of pre-Descemet corneal dystrophy (PDCD).

Methods: We examined two non-related families using biomicroscopy, in vivo confocal microscopy, and a genetic study using a gene panel test, looking for mutations in the PIKFYVE gene.

Results: A slit-lamp examination of the first family revealed polychromatic crystalline punctiform opacities distributed all over the stroma in 8 of 11 family members in three generations with an autosomal dominant inheritance.

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