Publications by authors named "A Alcina"
No evidence for association between rs10191329 severity locus and longitudinal disease severity in 1813 relapse-onset multiple sclerosis patients from the MSBase registry.
Mult Scler
August 2024
Background: The International Multiple Sclerosis Genetics Consortium and MultipleMS Consortium recently reported a genetic variant associated with multiple sclerosis (MS) severity. However, it remains unclear if these variants remain associated with more robust, longitudinal measures of disease severity.
Methods: We examined the top variant, rs10191329, from Harroud et al.
Multiple sclerosis is a leading cause of neurological disability in adults. Heterogeneity in multiple sclerosis clinical presentation has posed a major challenge for identifying genetic variants associated with disease outcomes. To overcome this challenge, we used prospectively ascertained clinical outcomes data from the largest international multiple sclerosis registry, MSBase.
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- - Multiple sclerosis (MS) is an intricate disease that damages the central nervous system, and understanding its genetic basis is crucial for finding potential therapies after the advances in genome-wide association studies (GWAS).
- - Researchers identified a specific genetic variant, rs7740107, linked to MS risk at the L3MBTL3 locus by studying a group of MS patients and healthy controls, discovering it influences the expression of related genes.
- - The variant rs7740107 leads to the production of a novel short transcript that generates truncated proteins, potentially disrupting crucial interactions with other proteins that regulate the Notch signaling pathway, further influencing MS pathology.
Most patients with hydrocephalus are still managed with the implantation of a cerebrospinal fluid (CSF) shunt in which the CSF flow is regulated by a differential-pressure valve (DPV). Our aim in this review is to discuss some basic concepts in fluid mechanics that are frequently ignored but that should be understood by neurosurgeons to enable them to choose the most adequate shunt for each patient. We will present data, some of which is not provided by manufacturers, which may help neurosurgeons in selecting the most appropriate shunt.
View Article and Find Full Text PDFIn the past decade, there has been a clear trend towards better outcomes in patients with hydrocephalus, especially those with normal pressure hydrocephalus (NPH). This is partly due to the availability of more sophisticated hardware and a better understanding of implants. However, there is little evidence to show the superiority of a specific type of valve over another.
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