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Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography.

J Neuroophthalmol

November 2024

Ophthalmology Department (AC-C, MF-R, SA-A, RA, BS-D), Seu Maternitat, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain; Faculty of Medicine and Health Sciences (AC-C, SA-A, BS-D), Universitat de Barcelona, Barcelona, Spain; Fundació Per La Recerca Biomèdica-IDIBAPS (MF-R, SA-A, BS-D), Barcelona, Spain; and Ophthalmology Department (MS-G), Consorci Mar Parc de Salut de Barcelona, Barcelona, Spain.

Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers.

Methods: A cross-sectional, case-control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls.

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Objectives: Intravenous tenecteplase (TNK) is increasingly used to treat adult patients with acute arterial ischemic stroke, but the risk profile of TNK in childhood stroke is unknown. This study aims to prospectively gather safety data regarding TNK administration in children.

Methods: Since December 2023, a monthly email survey was sent to participants recruited from the International Pediatric Stroke Study and Pediatric Neurocritical Care Research Group querying recent experience with TNK in childhood stroke.

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Article Synopsis
  • Hyperacute cardiac CT is more effective than transthoracic echocardiography in detecting intracardiac thrombus, but its routine use is limited due to costs and risks.
  • A study of 1,136 ischemic stroke or TIA patients found that longer arterial input function (AIF) dispersal times correlate with the presence of thrombus and worse outcomes, with a specific cutoff of 33 seconds indicating higher risk.
  • The findings support using AIF dispersal measurements to help identify patients who may benefit from cardiac imaging, potentially optimizing resource use in stroke management.
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Venous thromboembolism (VTE), consisting of both deep vein thrombosis (DVT) and pulmonary embolism (PE), is an extremely common condition both in the United States and worldwide. Not only is the diagnosis associated with significant morbidity and mortality for patients, but also it imposes a deleterious financial burden on the US healthcare system. Diagnosis may be challenging due to variability in clinical presentation and requires a sequential workup including assessment of clinical pretest probability for VTE, D-dimer testing, and imaging.

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Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes.

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