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Renal angiomyolipomas: Typical and atypical features on computed tomography and magnetic resonance imaging
(Baishideng Publishing Group Inc., 2025-02-28)
LABRA WEITZLER, ANDRES ANTONIO
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SCHIAPPACASSE FAUNDES, GIANCARLO
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Diego Constenla
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Joaquin Cristi
<jats:p>Angiomyolipomas (AMLs) represent the most common benign solid renal tumors. The frequency of their detection in the general population is increasing owing to advances in imaging technology. The objective of this review is to discuss computed tomography (CT) and magnetic resonance imaging findings for both typical and atypical renal AMLs, along with their associated complications. AMLs are typically defined as solid triphasic tumors composed of varying amounts of dysmorphic and tortuous blood vessels, smooth muscle components and adipose tissue. In an adult, a classical renal AML appears as a solid, heterogeneous renal cortical mass with macroscopic fat. However, up to 5% of AMLs contain minimal fat and cannot be reliably diagnosed by imaging. Fat-poor AMLs can appear as hyperattenuating masses on unenhanced CT and as hypointense masses on T2WI; other AMLs may be isodense or exhibit cystic components. Hemorrhage is the most common complication, and AMLs with hemorrhage can mimic other tumors, making their diagnosis challenging. Understanding the variable and heterogeneous nature of this neoplasm to correctly classify renal AMLs and to avoid misdiagnosis of other renal lesions is crucial.</jats:p>
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Genomic modifiers of neurological resilience in a Niemann‐Pick C family
(Wiley, 2025-06-12)
Macarena Las Heras
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Benjamín Szenfeld
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Valeria Olguín
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Juan Carlos Rubilar
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CALDERON GIADROSIC, JUAN FRANCISCO
Niemann-Pick type C (NPC) disease, caused by NPC1 or NPC2 variants, disrupts cholesterol and glycolipid trafficking, leading to diverse clinical manifestations. To understand the genetic basis of neurological resilience, we analyzed an NPC family with variable phenotypes, identifying loss-of-function variants in CCDC115, SLC4A5, DEPDC5, ETFDH, SNRNP200, and DOCK1 that co-segregated with milder neurological involvement. Using yeast models, we successfully predicted NPC-like severity based on orthologous gene variants. RNA-seq revealed a positive correlation between mitochondrial transcripts and cellular fitness. Modeling NPC in yeast lacking the SLC4A5 ortholog, bor1, enhanced cellular fitness, improved mitochondrial function, and reduced sterol accumulation. Our findings identify potential modifiers and biomarkers of NPC severity, highlighting mitochondrial pathways and SLC4A5 as a therapeutic target.
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Enfoque clínico del paciente con síndrome de Stevens-Johnson y necrólisis epidérmica tóxica. Parte I: Epidemiología, Diagnóstico y Factores Pronósticos
(SciELO Agencia Nacional de Investigacion y Desarrollo (ANID), 2025-04)
Nelson Lobos
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Fernando Valenzuela
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Monserrat Molgó
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Valeska López
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PALISSON ETCHARREN, FRANCIS
Scopus© Citations 1 8
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A Comparative Analysis of Universal and Sentinel Surveillance Data for Coronavirus Disease 2019: Insights From Argentina, Chile, and Mexico (2020–2022)
(Oxford University Press (OUP), 2025-03-10)
Lidia Redondo-Bravo
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Kinda Zureick
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Carla Voto
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Xaviera Molina Avendaño
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Laura Flores-Cisneros
Scopus© Citations 2 5
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Myocardial perfusion imaging in advanced coronary artery disease
(Wiley, 2025-03-18)
Roel Hoek
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Pepijn A. van Diemen
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Yvemarie B. O. Somsen
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Ruben W. de Winter
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Ruurt A. Jukema
Myocardial perfusion imaging (MPI) is widely adapted as a noninvasive technique to assess the presence and extent of ischemia in patients with symptoms suggestive of obstructive coronary artery disease (CAD). However, as CAD advances, several factors can complicate the interpretation of MPI, subsequently impacting clinical decision‐making. This review focuses on the utility of MPI by means of cardiac magnetic resonance (CMR) imaging, single‐photon emission computed tomography (SPECT) and positron emission tomography (PET) in patients with advanced CAD—the latter characterized by documented CAD (i.e. prior myocardial infarction [MI] and/or percutaneous coronary intervention [PCI]), prior coronary artery bypass grafting (CABG) or the presence of a chronic total occlusion (CTO). It will discuss factors impacting the interpretation of MPI, the diagnostic performance for detecting obstructive CAD and coronary microvascular dysfunction (CMD), as well as the role of MPI in guiding revascularization.
Scopus© Citations 1 2
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Early developmental screening tools constructed in Latin American countries: umbrella review
(Publicidad Permanyer, SLU, 2025-04-09)
SCHONHAUT BERMAN, LUISA
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Antonia Valdés
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Ilan Oppenheimer
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Antonio Rizzoli-Córdoba
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Rolando Rivera
2Scopus© Citations 2
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Evidence-based clinical standard for the diagnosis and treatment of invasive lung aspergillosis in the patient with oncohematologic disease
(Elsevier BV, 2025-03)
Jorge Alberto Cortés
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Diego Andrés Rodríguez-Lugo
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Martha Carolina Valderrama-Rios
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Ricardo Rabagliati
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Domenico Capone
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Developing and Validating an Automatic Support System for Tumor Coding in Pathology Reports in Spanish
(American Society of Clinical Oncology (ASCO), 2025-02)
Fabián Villena
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Pablo Báez
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Sergio Peñafiel
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Matías Rojas
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Inti Paredes
Purpose Pathology reports provide valuable information for cancer registries to understand, plan, and implement strategies to mitigate the impact of cancer. However, coding essential information from unstructured reports is performed by experts in a time-consuming manual process. We developed and validated a novel two-step automatic coding system that first recognizes tumor morphology and topography mentions from free text and then suggests codes from the International Classification of Diseases for Oncology (ICD-O) in Spanish. Materials and Methods We created an annotated corpus of tumor morphology and topography mentions consisting of 1,101 documents. We combined it with the CANTEMIST corpus (Cancer Text Mining Shared Task). Specifically, we implemented a named entity recognition (NER) model using the bidirectional long short-term memory network-conditional random field architecture enhanced with a stacked embedding layer. We applied transfer learning from state-of-the-art pretrained language models to obtain high-quality contextual representations, thus improving the detection of entities. The mentions found using this model were subsequently oded using a search engine tailored to the ICD-O codes. Results Our NER models achieved an F1 score of 0.86 and 0.90 for tumor morphology and topography, respectively. The overall performance of our automatic coding system achieved an accuracy at five suggestions of 0.72 and 0.65 for tumor morphology and topography, respectively. Conclusion These results demonstrate the feasibility of implementing natural language processing tools in the routine of a cancer center to extract and code valuable information from pathology reports. Our recommender system allows reliable and transparent coding at the moment of consultation. This publication shares the annotated corpus in Spanish, annotation guidelines, and source code to reproduce our experiments.
Scopus© Citations 3 1
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Practical Validation of the COuGH RefluX Score: A Multicenter Study in Patients From Hispano‐America
(Wiley, 2025-05-06)
Anna Calm
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Luis G. Alcala‐Gonzalez
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Alberto Ezquerra‐Duran
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Francisco Alejandro Félix Téllez
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Fermin Estremera
Laryngopharyngeal reflux symptoms (LPS) are often attributed to gastroesophageal reflux disease (GERD), yet objective testing confirms GERD in only a small subset of patients. The COuGH RefluX score, previously validated in North American and Taiwanese populations, offers a non‐invasive method to stratify GERD likelihood in patients with LPS. This study aimed to evaluate its performance in a real‐world Hispano‐American cohort.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We performed a multicenter, retrospective cohort study in 459 adult patients from seven Neurogastroenterology units in Spain and Latin America, referred for LPS between 2018 and 2024. All patients underwent endoscopy, high‐resolution esophageal manometry, and 24‐h pH or Ph‐impedance monitoring. Two versions of the COuGH RefluX score—original (including endoscopy and manometry data) and practical (including only endoscopy data)—were calculated. GERD status was defined per Lyon 2.0 criteria.</jats:p></jats:sec><jats:sec><jats:title>Key Results</jats:title><jats:p>Proven GERD was identified in 164 patients (36%). The original COuGH RefluX score showed an AUC of 0.706, with 89% sensitivity and 89% specificity. The practical version showed an AUC of 0.684, maintaining the same sensitivity and specificity (both 89%). Compared to the original COuGH RefluX score, the practical version misclassified 54 patients due to undetected hiatal hernia on endoscopy alone; among these, 15 patients initially classified as indeterminate were downgraded to low likelihood—4 with proven GERD and 11 with unproven GERD. A subset of 197 (43%) patients reported at least three cough episodes during reflux monitoring. Among those with strong symptom association (<jats:italic>n</jats:italic> = 18), 67% had a high COuGH RefluX score, suggestive of a high GERD likelihood.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>The COuGH RefluX score effectively stratifies GERD probability in patients with LPS. It may also identify patients with significant symptom‐reflux associations, guiding targeted testing and therapy. This pragmatic tool could improve resource allocation by reducing unnecessary invasive testing in low‐risk patients.</jats:p></jats:sec>
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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
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Fabian Vega-Tapia
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Nathaly Elizalde
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Ivan Flores
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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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