Background And Purpose: Previous studies have suggested an association between stroke and meteorological factors, air pollution and acute respiratory infections as triggering factors. Often, these factors have been evaluated separately. We evaluated the association between all these environmental triggering factors and calls for suspected stroke in a suburb in west Paris from 2004 to 2015.
Methods: We used data from the emergency medical dispatching center of all calls for suspected stroke (SAMU 78), climatic parameters (MétéoFrance), pollution (AIRPARIF), and data from influenza epidemic surveillance networks (GROG and Sentinelles). The association between short-term exposure (1-day lag) to environmental triggering factors and stroke occurrence was analyzed using negative-binomial log linear regression model for counting time series.
Results: Between 2004 and 2015, a total of 11,037 calls for suspected stroke were recorded. In bivariate analysis, there were associations between calls for suspected stroke and temperature (mean, maximum and minimum), humidity and influenza epidemic. In multivariable analysis, only two variables were associated with calls for suspected stroke: humidity [3.93% excess relative risk (ERR) of stroke per 10% increase in humidity; 95% confidence interval (CI), 1.42 to 6.51; P<0.002] and pollution on the "Air Parif Atmo" scale (2.86% ERR of stroke per 1 unit increase; 95% CI, 1.01 to 4.75; P=0.002).
Conclusions: This study suggests that short-term exposure to air pollution and a high level of humidity are associated with a significant excess relative risk of calls for suspected stroke.
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http://dx.doi.org/10.1016/j.neurol.2019.03.002 | DOI Listing |
Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.
Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.
BMJ Open Qual
January 2025
Division of Cardiovascular Sciences, The University of Manchester, Manchester, UK.
Introduction: Stroke is a leading cause of mortality and morbidity, demanding prompt and accurate identification. However, prehospital diagnosis is challenging, with up to 50% of suspected strokes having other diagnoses. A prehospital video triage (PHVT) system was piloted in Greater Manchester to improve prehospital diagnostic accuracy and appropriate conveyance decisions.
View Article and Find Full Text PDFJCI Insight
December 2024
Department of Ophthalmology and Roger and Karalis Johnson Retina Center, University of Washington, Seattle, United States of America.
Background: Current clinical sequencing methods cannot effectively detect DNA methylation and allele-specific variation to provide parent-of-origin information from the proband alone. Parent-of-origin effects can lead to differential disease and the inability to assign this in de novo cases limits prognostication in the majority of affected individuals with retinoblastoma, a hereditary cancer with suspected parent-of-origin effects.
Methods: To directly assign parent-of-origin in retinoblastoma patients, genomic DNA was extracted from blood samples for sequencing using a programmable, targeted single-molecule long-read DNA genomic and epigenomic approach.
BMC Health Serv Res
December 2024
Department of Public Health, College of Health Sciences, Bowen University, Iwo, Osun, Nigeria.
Background: Unplanned and rapid urbanization within Nigerian cities with the attendant environmental consequences may hinder achieving malaria elimination goal. Presently, there are limited qualitative studies on malaria case management and care-seeking patterns by settlement type in urban areas in Nigeria. This study, investigated malaria-related health seeking behaviours among different settlement types in Ibadan and Kano metropolises, Nigeria.
View Article and Find Full Text PDFNucleic Acids Res
December 2024
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI 48109, USA.
Tandem repeat sequences comprise approximately 8% of the human genome and are linked to more than 50 neurodegenerative disorders. Accurate characterization of disease-associated repeat loci remains resource intensive and often lacks high resolution genotype calls. We introduce a multiplexed, targeted nanopore sequencing panel and HMMSTR, a sequence-based tandem repeat copy number caller which outperforms current signal- and sequence-based callers relative to two assemblies and we show it performs with high accuracy in heterozygous regions and at low read coverage.
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