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      2Scopus© Citations 2
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    Use of an Advanced Hybrid Closed Loop System During Marathon Running: Case Examples and Clinical Implications
    (Wiley, 2025-02-28)
    María T. Onetto
    ;
    Denise Montt‐Blanchard
    ;
    Cari Berget
    ;
    Kristel Strodhoff
    ;
    Bruno Grassi
    Maintaining glucose levels in the target range during aerobic training and athletic competition is especially difficult. The use of Automated Insulin Delivery (AID) technology is increasing, but exercise continues to be a challenge for persons with type 1 diabetes (T1D). In this case report series, we present 3 cases (C1, C2 and C3) of persons with T1D who used the MiniMed 780G during marathon races. We describe the strategies they used before, during and after the race to manage their glycaemia as well as the results of these strategies on their glycaemic control during the race.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The Medtronic CareLink platform was employed to remotely access insulin pump settings and glycaemic outcomes. Race parameters were obtained from sport watches. Supplemental data were obtained through interviews.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Carelink data for Cases 1, 2, and 3 before the race were downloaded: Time in range (TIR) 70–180 mg/dL 89%, 76%, 82%; time above range (TAR) &gt; 180 mg/dL, 9%, 20%, 16%; time below range (TBR) &lt; 70 mg/dL, 1%, 4%, 1%, respectively. The breakfast insulin reduction percentages were −25%, 0%, and 0% for C1, C2, and C3, respectively. In all three cases, insulin dose reduction was applied to the pre‐race snack at percentages of −50%, −100% and −83%. The consumption of carbohydrates during the race was 0.39 g/kg/hour, 0.42 g/kg/hour, and 0.5 g/kg/hour, respectively. The total amount of carbohydrates consumed was 101 g, 120 g, and 115 g, respectively. Throughout the race, a temporary target was used for all cases.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>These cases provide insights for healthcare professionals who assist athletes with T1D using AID systems during prolonged physical activities. Highlighting the significance of specialised education, planning, and personalised approaches.</jats:p></jats:sec>
      4
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    IL-10 and IL-6/IL-10 as predictive biomarkers for treatment response in non-infectious uveitis
    (Frontiers Media SA, 2025-05-13)
    Rodrigo A. Valenzuela
    ;
    Fabian Vega-Tapia
    ;
    Nathaly Elizalde
    ;
    Ivan Flores
    ;
    Felipe M. Rojas
    Uveitis, a group of heterogeneous diseases causing ocular inflammation, is a major contributor to vision loss globally. While systemic corticosteroids (CS) are the mainstay treatment, identifying CS-refractory patients remains a significant challenge. This study aimed to explore cytokine expression and Glucocorticoid Receptor (GR) levels as biomarkers for the early detection of CS-refractory cases in non-infectious uveitis. We assayed blood samples from 19 patients with non-infectious uveitis, for the expression of IL-6, IL-17A, TNF-α, IL-10 and GRα. The cohort included 11 refractory and 8 sensitive patients, categorized based on their clinical response to corticosteroids (prednisone 1 mg/kg/day). Blood draws were conducted at three time points (at baseline, day 7- and day 14 after CS initiation), and peripheral blood mononuclear cells (PBMCs) were isolated to measure cytokine and GRα transcript levels via real-time PCR. The expression levels of GRα and cytokines IL-6, IL-17A and TNF-α did not show significant changes between CS-sensitive and CS-refractory patients on the different days of treatment. However, IL-10 expression levels as the day14-to-day7 ratio were significantly higher in patients sensitive to CS therapy. A higher day14-to-day7 ratio was also found for the IL-6/IL-10, IL-17A/IL-10 and GRα/IL-10 ratios. ROC curve analysis demonstrated a robust predictive performance of IL-10 mRNA expression and the IL-6/IL-10 ratio for identifying CS-refractory patients. In conclusion, the expression of IL-10 and the IL-6/IL-10 ratio hold promise as early predictive biomarkers for CS treatment refractoriness in patients with non-infectious uveitis. These findings offer valuable insights into personalized treatment strategies, potentially leading to improved clinical outcomes.
    Scopus© Citations 6  1
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    Scopus© Citations 2  1
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    Return-to-sport tests: Do they reduce risk of re-rupture after anterior cruciate ligament reconstruction?
    (Elsevier BV, 2025-04) ;
    Waldo Gonzalez Duque
    ;
    Daniela Landea Caroca
    ;
    Camila Tapia Castillo
    ;
    Daniela Erskine Ventura
    Scopus© Citations 1  1
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    A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions
    (MDPI AG, 2025-04-29)
    Alfred Klausegger
    ;
    Fabian Leditzky
    ;
    Susanne Krämer
    ;
    ;
    Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient’s phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype–phenotype correlations.
      1
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    New Dermoscopy Pattern in Nevus‐Associated Melanomas
    (Wiley, 2025-04-19)
    Nelson Lobos‐Guede
    ;
    Dan Hartmann
    ;
    Valentina Darlic
    ;
    Cristina Carrera
    ;
    Llucia Alos
    Melanomas can appear de novo or in association with a pre‐existing nevus. The association of melanomas with pre‐existing nevi and its role as a melanoma precursor is a controversial issue. Dermoscopy can increase melanoma's diagnostic accuracy and help us suspect nevus‐associated melanomas (NAM). Differentiating NAMs clinically and dermoscopically can be challenging. There are few published studies so far describing dermoscopic features of NAM that have differentiated from <jats:italic>de novo</jats:italic> melanomas, such as multi‐component pattern, multifocal pigmentation, atypical pigment network, regression structures, negative pigment network, irregular globules, and streaks. Here, we report four acquired compound NAMs showing a starburst pattern (SP) within the lesion. No publications have reported NAMs with melanoma components in the form of SP arising within the center of the lesion. Therefore, when faced with a compound or intradermal nevus with incipient central reticulated pigmentation, especially if there is no history of trauma or previous surgery, we must pay alert to the possibility of an early development of melanoma.
      2
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      2
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    Digital Bowen disease: a case report and systematic review
    (JLE, 2024-12) ;
    Cristóbal Lecaros
    ;
    Edinson López
    ;
    Nelson Lobos
    ;
    Nadia Vega
      5
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    Torsión lingular espontánea como causa rara de dolor torácico de manejo quirúrgico: Reporte de un caso
    (Sociedad de Cirujanos de Chile, 2024-11-25)
    Nicolás Ignacio Berríos Caro
    ;
    Sabastián Matías Paz Aceituno
    ;
    José Ignacio Ortega Sepúlveda
    <jats:p>Objetivo: Describir un caso extremadamente raro de torsión pulmonar espontánea en una paciente sin antecedentes de trauma o cirugía torácica, y discutir su importancia clínica.Materiales y Métodos: Se analizó el caso de una paciente femenina de 56 años que presentó dolor torácico súbito. Para el diagnóstico, se emplearon métodos como el examen físico, la tomografía computarizada y la videotoracoscopia (VTC).Resultados: La VTC reveló un infarto del segmento lingular inferior por torsión pulmonar, llevando a la realización de una resección segmentaria de la língula sin complicaciones.Discusión: La torsión pulmonar espontánea es rara y generalmente se asocia con condiciones subyacentes como neumotórax, atelectasias, infecciones, derrame pleural, defectos congénitos o tumores. Este caso es inusual al carecer de dichos antecedentes, aunque se detectó una infección viral concomitante. Dada la gravedad de las potenciales complicaciones mortales, resulta crucial un diagnóstico y tratamiento oportunos.Conclusión: Se presenta un caso inusual de torsión pulmonar espontánea. A pesar de su rareza, es vital considerarlo en el diagnóstico diferencial de dolor torácico agudo.</jats:p>
      10