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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.
Neurology
February 2025
Department of Neurology, Washington University School of Medicine, St. Louis, MO.
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.
Neurology
February 2025
Department of Neurology, John Hunter Hospital, Newcastle, Australia.
Postgrad Med
January 2025
Lankenau Medical Center, Wynnewood, PA, USA.
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.
View Article and Find Full Text PDFJ Int Med Res
January 2025
Divisions of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada.
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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