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    Perinatal Anxiety and Mother–Infant Health in Chile
    (Springer Nature Switzerland, 2024) ;
    Ana Flavia Bennett
    ;
    María Ignacia García
      2
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    Epidemiology and associated injury risk factors in figure skating: A systematic review
    (Elsevier BV, 2025-07)
    Natasha T. Schmidt
    ;
    Dina C. Janse van Rensburg
    ;
    Marlene Schoeman
    ;
    ;
    Audrey Jansen van Rensburg
    Scopus© Citations 2  1
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    Polygenic score analysis identifies distinct genetic risk profiles in Alzheimer’s disease comorbidities
    (Springer Science and Business Media LLC, 2025-04-03)
    Carlos F. Hernández
    ;
    Camilo Villaman
    ;
    Costin Leu
    ;
    Dennis Lal
    ;
    Ignacio Mata
      4
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    Cáncer de vesícula: ¿Es momento de modificar el GES?
    (SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2024-10)
    Camila P. Samaniego
    ;
    Xabier de Aretxabala
    ;
    Felipe Castillo
    ;
    Álvaro Paredes
    ;
    M. Trinidad González
      14
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      4
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    Comprehensive Analysis of Genetic Contributions to Alzheimer’s Disease and Frontotemporal Dementia in Admixed Latin American Populations
    (Wiley, 2024-12)
    Juliana Acosta‐Uribe
    ;
    Stefanie Danielle Pina Escudero
    ;
    J. Nicholas Cochran
    ;
    Jared W Taylor
    ;
    Caroline Warly Solsberg
    <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Most research initiatives have emerged from high‐income countries (HIC), leaving a gap in understanding the disease’s genetic basis in diverse populations like those in Latin American countries (LAC). ReDLat tackles this gap, focusing on LAC’s unique genetics and socioeconomic factors to identify specific Alzheimer’s Disease (AD) and Frontotemporal Dementia (FTD) risk factors in Mexico, Colombia, Peru, Chile, Argentina, and Brazil.</jats:p></jats:sec><jats:sec><jats:title>Method</jats:title><jats:p>We employed a comprehensive genetic analysis approach, integrating Whole Genome Sequencing (WGS), Exome Sequencing, and SNP arrays to understand the cohort’s unique genetic architecture. We conducted ancestry analysis and searched for disease‐causing variants with mendelian inheritance, genome‐wide association studies (GWAS), rare variant enrichment, and evaluation of Polygenic Risk Scores (PRS).</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>We recruited and genotyped an initial cohort of 1046 participants with AD, 423 with FTD, and 855 healthy controls (HC) between 2020 and 2023. Analysis is ongoing, and we expect to sequence ∼600 additional samples in the coming months. Ancestry analysis revealed tri‐continental admixture, except for Brazil, which showed an additional Asian component (Figure 1). Top candidate gene rare variant enrichment associations (SKAT p &lt; 0.05) were <jats:italic>TREM2</jats:italic> for FTD and <jats:italic>ABCA7</jats:italic> and <jats:italic>ABCA1</jats:italic> for AD. GWAS identified a robust association with the <jats:italic>APOE</jats:italic> locus on chromosome 19 in AD vs. HC.. We tested an AD PRS developed in European populations by Bellenguez et al (2020). on our cohort using 83 single‐nucleotide polymorphisms.. The PRS modestly distinguishes between all patients and HC (p = 2.4 × 10^‐12), AD vs. HC (p = 2.2 × 10^‐12), and even FTD vs. HC (p = 4.3 × 10^‐5), albeit with modest separation between groups, as expected for its application in a genetically admixed population.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Our findings represent a pivotal step in understanding the genetic landscape of AD and FTD in admixed populations. They underscore the importance of including diverse populations in genetic research, paving the way for future studies. These findings have the potential to inform more personalized approaches to the diagnosis and treatment of neurodegenerative diseases in diverse global populations, as well as identify novel targets for therapeutic development.</jats:p></jats:sec>
      3
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    Clinical Profile of Stroke Chameleons Receiving Intravenous Thrombolysis: Insights from a Single-Center Experience
    <jats:p>Introduction: In emergency rooms (ERs), 5% of patients experiencing an acute ischemic stroke (AIS) receive an alternative diagnosis; these cases are known as stroke chameleons (SC). The percentage of SC treated with intravenous thrombolysis (IVT) and the characteristics have not been well described. We aimed at investigating the variables associated with the probability receiving IVT. Methods: In this prospective study, we included consecutive patients with SC admitted at the ER of Clínica Alemana between September 2014 and October 2023. Results: Among 1,193 stroke patients; sixty-three (5.2%) corresponded to SC. Ten of these cases (15.8%, 95% CI: 8.8–26.8) were treated with IVT, mean door-to-needle (DTN) time of 85.7 (SD 35) min, median of 73.5 (IQR 62–113) min. SCs who underwent IVT were younger (p = 0.01), with higher NIHSS (p = 0.05). They presented more frequently with altered level of consciousness in the NIHSS (p = 0.01), language abnormities (p = 0.001), and dysarthria (p = 0.01). In multivariate analysis, none of the variables were significantly associated with IVT. A secondary analysis showed that only time to brain imaging was significantly associated with IVT (OR: 0.99; 95% CI: 0.98–0.99; p = 0.01). Conclusions: Almost 1 out of every 7 SC could be treated with IVT but with a prolonged DTN time; the chance of being treated is associated with time to brain imaging. &lt;p&gt;Introduction: In emergency rooms (ERs), 5% of patients experiencing an acute ischemic stroke (AIS) receive an alternative diagnosis; these cases are known as stroke chameleons (SC). The percentage of SC treated with intravenous thrombolysis (IVT) and the characteristics have not been well described. We aimed at investigating the variables associated with the probability receiving IVT. Methods: In this prospective study, we included consecutive patients with SC admitted at the ER of Clínica Alemana between September 2014 and October 2023. Results: Among 1,193 stroke patients; sixty-three (5.2%) corresponded to SC. Ten of these cases (15.8%, 95% CI: 8.8–26.8) were treated with IVT, mean door-to-needle (DTN) time of 85.7 (SD 35) min, median of 73.5 (IQR 62–113) min. SCs who underwent IVT were younger (p = 0.01), with higher NIHSS (p = 0.05). They presented more frequently with altered level of consciousness in the NIHSS (p = 0.01), language abnormities (p = 0.001), and dysarthria (p = 0.01). In multivariate analysis, none of the variables were significantly associated with IVT. A secondary analysis showed that only time to brain imaging was significantly associated with IVT (OR: 0.99; 95% CI: 0.98–0.99; p = 0.01). Conclusions: Almost 1 out of every 7 SC could be treated with IVT but with a prolonged DTN time; the chance of being treated is associated with time to brain imaging. &lt;/p&gt;</jats:p>
      1
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    Predicting early complications in patients with spinal gunshot wounds: A multicenter study
    (2024)
    Guillermo A. Ricciardi
    ;
    Juan P. Cabrera
    ;
    Oscar Martínez
    ;
    Javier Matta
    ;
    Hugo Vilchis
      8Scopus© Citations 2