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Alzheimers Dement
December 2024
Universidad de Antioquia, Medellín, Antioquia, Colombia.
Background: Dementia has a worldwide prevalence of 55 million people, with 60 to 70% of cases attributed to Alzheimer's Disease (AD). In Antioquia, Colombia, exists a group of families with early-onset AD associated to PSEN1-E280A, a genetic variant with an autosomal dominant inheritance pattern and a penetrance over 99%, which enables the study of individuals across different disease stages. Electroencephalography (EEG) is a non-invasive, portable, and low-cost technique that allows the study of electrophysiological changes associated with neurodegeneration.
View Article and Find Full Text PDFNOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke.
Nat Commun
September 2024
Columbia University, New York, NY, USA.
Article Synopsis
- The genetic factors contributing to stroke risk in South Asians remain largely unstudied, with a recent study examining 75,000 Pakistanis using exome-wide sequencing.
- A specific genetic variant, NOTCH3 p.Arg1231Cys, was found to be more common in South Asians (0.58%) compared to Western Europeans (0.019%) and was significantly linked to hemorrhagic and overall stroke risk.
- This variant accounts for about 2.0% of hemorrhagic strokes and 1.1% of all strokes in South Asians, emphasizing the importance of including diverse populations in genetic research for better understanding and treatment of stroke.
In Vivo Assessment of the Pediatric Trabecular Meshwork, Schlemm Canal, and Iridocorneal Angle Using Overhead-Mounted Optical Coherence Tomography.
Am J Ophthalmol
January 2025
Department of Ophthalmology, Duke University Medical Center (B.W., R.N., S.A., T.G., S.F.F.), Durham, North Carolina, USA.. Electronic address:
Purpose: To describe the in vivo morphologic characteristics of the trabecular meshwork (TM), Schlemm canal (SC), and iridocorneal angle in pediatric patients with normal eyes, glaucoma, and cataract.
Design: Prospective cohort study.
Study Population: A total of 41 children (70 eyes) were enrolled, comprising 28 normal eyes, 19 eyes with glaucoma, and 26 eyes with cataract (15 pre-, 11 post-lensectomy).
Intraventricular neurocytoma: A diagnostic challenge with prognostic value.
Radiol Case Rep
October 2024
Neurosurgery, Hospital Italiano de Buenos Aires, Buenos Aires, C1199ABB, Argentina.
Intraventricular neurocytoma is a low incidence central nervous system tumor. It predominantly affects young adults with no apparent gender predilection. The main symptoms include headache, nausea and vomiting.
View Article and Find Full Text PDF[Consensus for Oncology Genetic Counseling and Molecular Diagnosis: The Punta Arenas Statement].
Rev Med Chil
September 2023
Instituto Nacional do Cancer, Rio de Janeiro, Brasil.
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