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      6Scopus© Citations 2
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    Scopus© Citations 6  5
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    Early prediction of functional mobility severity after stroke: two key milestones
    (2024)
    Patricia Vargas
    ;
    Marcos Maldonado-Diaz
    ;
    Tania Gutiérrez-Panchana
    Scopus© Citations 2
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      20  1Scopus© Citations 6
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    Muscular Strength of Upper and Lower Limbs and Self-Esteem in Chilean SchoolChildren: Independent Associations with Body Composition Indicators
    (2021)
    Cristian Cofre Bolados
    ;
    Gerson Ferrari
    ;
    Mónica Suárez-Reyes
    ;
    QUINTILIANO SCARPELLI DOURADO , DAIANA APARECIDA  
    ;
    Helen Diaz-Peña
    <jats:p>The aim of this study was to analyze the relationship between muscular strength from upper and lower limbs with self-esteem among Chilean schoolchildren, drawing independent associations with body composition indicators. The sample consisted of 1078 schoolchildren. The muscular strength of the upper and lower limbs was evaluated using a digital dynamometer and long jump performance. The general strength index was calculated based on Z-score values. Rosenberg’s test was used to determine the level of self-esteem of participants. Body fat and body mass index were employed as body composition indicators. Boys had significantly more upper and lower strength, and a general strength index higher than girls (11.7 vs. 10.6; 109.7 vs. 97.4; 0.19 vs. −0.24, respectively). For boys and girls combined, there were no significant associations between all muscular strength variables and self-esteem. In boys, upper and lower limb strength was positively associated with self-esteem. In girls, no association between muscular strength and self-esteem was found. In both sexes, the general strength index was not associated with self-esteem. Strategies and programs that promote mental health and muscular strength among schoolchildren, specifically in boys, are needed.</jats:p>
      5Scopus© Citations 7
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    Early Oxidative Stress Response in Patients with Severe Aortic Stenosis Undergoing Transcatheter and Surgical Aortic Valve Replacement: A Transatlantic Study
    (2019)
    Michael Mahmoudi
    ;
    Juan Guillermo Gormaz
    ;
    Marcia Erazo
    ;
    Michael Howard
    ;
    Cristian Baeza
    Myocardial ischemia/reperfusion-related oxidative stress as a result of cardiopulmonary bypass is thought to contribute to the adverse clinical outcomes following surgical aortic valve replacement (SAVR). Although the acute response following this procedure has been well characterized, much less is known about the nature and extent of oxidative stress induced by the transcatheter aortic valve replacement (TAVR) procedure. We therefore sought to examine and directly compare the oxidative stress response in patients undergoing TAVR and SAVR. A total of 60 patients were prospectively enrolled in this exploratory study, 38 patients undergoing TAVR and 22 patients SAVR. Reduced and oxidized glutathione (GSH, GSSG) in red blood cells as well as the ferric-reducing ability of plasma (FRAP) and plasma concentrations of 8-isoprostanes were measured at baseline (S1), during early reperfusion (S2), and 6-8 hours (S3) following aortic valve replacement (AVR). TAVR and SAVR were successful in all patients. Patients undergoing TAVR were older (<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M1"><mml:mn>79.3</mml:mn><mml:mo>±</mml:mo><mml:mn>9.5</mml:mn></mml:math> vs. <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M2"><mml:mn>74.2</mml:mn><mml:mo>±</mml:mo><mml:mn>4.1</mml:mn></mml:math> years; <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M3"><mml:mi>P</mml:mi><mml:mo>&lt;</mml:mo><mml:mn>0.01</mml:mn></mml:math>) and had a higher mean STS risk score (<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M4"><mml:mn>6.6</mml:mn><mml:mo>±</mml:mo><mml:mn>4.8</mml:mn></mml:math> vs. <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M5"><mml:mn>3.2</mml:mn><mml:mo>±</mml:mo><mml:mn>3.0</mml:mn></mml:math>; <mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML" id="M6"><mml:mi>P</mml:mi><mml:mo>&lt;</mml:mo><mml:mn>0.001</mml:mn></mml:math>) than patients undergoing SAVR. At baseline, FRAP and 8-isoprostane plasma concentrations were similar between the two groups, but erythrocytic GSH concentrations were significantly lower in the TAVR group. After AVR, FRAP was markedly higher in the TAVR group, whereas 8-isoprostane concentrations were significantly elevated in the SAVR group. In conclusion, TAVR appears not to cause acute oxidative stress and may even improve the antioxidant capacity in the extracellular compartment.
    Scopus© Citations 4  4
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    Optical Coherence Tomography Angiography (OCT-A) in Uveitis: A Literature Review and a Reassessment of Its Real Role
    (2023)
    Carl P. Herbort
    ;
    Masaru Takeuchi
    ;
    Ioannis Papasavvas
    ;
    Ilknur Tugal-Tutkun
    ;
    Alireza Hedayatfar
    <jats:p>Background: The global and precise follow-up of uveitis has become possible with the availability of dual fluorescein (FA) and indocyanine green angiography (ICGA) since the mid-1990s. Progressively, additional non-invasive imaging methods have emerged, bringing value-added precision to the imaging appraisal of uveitis, including, among others, optical coherence tomography (OCT), enhanced-depth imaging OCT (EDI-OCT) and blue light fundus autofluorescence (BAF). More recently, another complementary imaging method, OCT-angiography (OCT-A), further allowed retinal and choroidal circulation to be imaged without the need for dye injection. Purpose: The purpose of this review was aimed at examining the evidence in published reports indicating whether OCT-A could possibly replace dye angiographic methods, as well as the real practical impact of OCT-A. Methods: A literature search in the PubMed database was performed using the terms OCT-angiography and uveitis, OCTA and uveitis and OCT-A and uveitis. Case reports were excluded. Articles were classified into technical reports, research reports and reviews. Articles in the two latter categories were analyzed in a more detailed, individual fashion. Special attention was paid to whether there were arguments in favor of an exclusive rather than complementary use of OCT-A. Furthermore, a synthesis of the main practical applications of OCT-A in the management of uveitis was attempted. Results: Between 2016 (the year of the first articles) and 2022, 144 articles containing the search terms were identified. After excluding case report articles, 114 articles were retained: 4 in 2016, 17 in 2017, 14 in 2018, 21 in 2019, 14 in 2020, 18 in 2021 and 26 in 2022. Seven articles contained technical information or consensus-based terminology. Ninety-two articles could be considered as clinical research articles. Of those, only two hinted in their conclusions that OCT-A could hypothetically replace dye methods. The terms mostly used to qualify the contribution of the articles in this group were “complementary to dye methods”, “adjunct”, “supplementing” and other similar terms. Fifteen articles were reviews, none of which hinted that OCT-A could replace dye methods. The situations where OCT-A represented a significant practical contribution to the practical appraisal of uveitis were identified. Conclusion: To date, no evidence was found in the literature that OCT-A can replace the classic dye methods; however, it can complement them. Promoting the possibility that non-invasive OCT-A can substitute the invasive dye methods is deleterious, giving the elusive impression that dye methods are no longer inevitable for evaluating uveitis patients. Nevertheless, OCT-A is a precious tool in uveitis research.</jats:p>
      7Scopus© Citations 13
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    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
    (2023)
    Sólveig Óskarsdóttir
    ;
    Erik Boot
    ;
    Terrence Blaine Crowley
    ;
    Joanne C.Y. Loo
    ;
    Jill M. Arganbright
    Scopus© Citations 50  2
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    CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
    (2023)
    Marie Macnee
    ;
    Eduardo Pérez-Palma
    ;
    Tobias Brünger
    ;
    Chiara Klöckner
    ;
    Konrad Platzer
    <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Motivation</jats:title> <jats:p>Pathogenic copy-number variants (CNVs) can cause a heterogeneous spectrum of rare and severe disorders. However, most CNVs are benign and are part of natural variation in human genomes. CNV pathogenicity classification, genotype–phenotype analyses, and therapeutic target identification are challenging and time-consuming tasks that require the integration and analysis of information from multiple scattered sources by experts.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>Here, we introduce the CNV-ClinViewer, an open-source web application for clinical evaluation and visual exploration of CNVs. The application enables real-time interactive exploration of large CNV datasets in a user-friendly designed interface and facilitates semi-automated clinical CNV interpretation following the ACMG guidelines by integrating the ClassifCNV tool. In combination with clinical judgment, the application enables clinicians and researchers to formulate novel hypotheses and guide their decision-making process. Subsequently, the CNV-ClinViewer enhances for clinical investigators’ patient care and for basic scientists’ translational genomic research.</jats:p> </jats:sec> <jats:sec> <jats:title>Availability and implementation</jats:title> <jats:p>The web application is freely available at https://cnv-ClinViewer.broadinstitute.org and the open-source code can be found at https://github.com/LalResearchGroup/CNV-clinviewer.</jats:p> </jats:sec>
    Scopus© Citations 13  15
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    Evaluación funcional y de factores limitantes del tratamiento de los trastornos de la marcha en la parálisis cerebral infantil: desarrollo del sistema de clasificación de niveles de deambulación funcional
    (2020)
    Ignacio Martínez Caballero
    ;
    Gonzalo Chorbadjian Alonso
    ;
    Rosa Mª Egea Gámez
    ;
    Álvaro Pérez-Somarriba Moreno
    ;
    Carlos Humberto Prato de Lima
    Scopus© Citations 4  12