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Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk
(Frontiers Media SA, 2026-02-12)
PAZ CRUZ, ELIUS ANDRES
;
RUIZ POZO, VIVIANA ALEJANDRA
;
CADENA ULLAURI, SANTIAGO ANDRÉ
;
GUEVARA RAMÍREZ, ALEXANDRA PATRICIA
;
TAMAYO TRUJILLO, VICTOR RAFAEL
Long QT syndrome (LQTS) is a hereditary cardiac channelopathy associated with delayed ventricular repolarization and increased risk of life-threatening arrhythmias and sudden cardiac death. We report three Ecuadorian patients with LQTS, each presenting distinct clinical features and carrying pathogenic or likely pathogenic variants in KCNH2 or KCNQ1. Subject A, an 18-year-old woman with exertion-related syncope and a QTc of 520 ms, was diagnosed with LQT2 due to a KCNH2 p.Ala614Val variant. Subject B, a 3-year-old girl with congenital deafness and a QTc of 580 ms, was diagnosed with Jervell and Lange-Nielsen syndrome (JLNS), harboring a homozygous KCNQ1 p.Arg192Cys variant. Subject C, a 44-year-old man with recurrent syncope misdiagnosed as epilepsy and a strong family history of sudden death, was found to carry a KCNH2 p.Val612Met variant and had a QTc of 600 ms. All variants were classified according to ACMG/AMP guidelines and supported by in silico and functional data. Ancestry analysis provided additional genomic context in this admixed population. These cases underscore the clinical utility of integrating ECG findings, genetic testing, and ancestry-informed interpretation to improve diagnostic accuracy and personalize management in patients with inherited arrhythmia syndromes.
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Optimizing fish skin scaffolds for regenerative medicine: A comparative study of physical and chemical decellularization techniques
(Elsevier BV, 2026-05)
Esmat Azizipour
;
Hengameh Honarkar
;
Reza Yarahmadi
;
Ahmad Vaez
;
Mehdi Kian
Fish skin scaffolds have great potential as biocompatible materials for skin regeneration, as they contain high levels of collagen and are structurally similar to the mammalian extracellular matrix (ECM). In this study, we compared the efficiency of physical decellularization with chemical decellularization using sodium dodecyl sulphate (SDS), sodium lauryl ether sulfate (SLES), and Triton X-100 at two concentrations (0.5% and 1%) and two time intervals (6 and 12 h). The decellularization efficiency and quality of scaffolds were assessed via histological observations, glycosaminoglycan (GAG) content, MTT assay to evaluate cytocompatibility, scaffold degradation rate, and scanning electron microscopy (SEM) observations. Silicone membrane physical decellularization preserves the integrity of the ECM, retains higher levels of GAG (1.5 µg/mm³) and higher levels of fibroblast viability (p < 0.001) and demonstrates limited degradation (< 20% on day 14) compared to chemical decellularization. Chemical decellularization caused some breakdown of the ECM, particularly treatments at 1%-12h, and was able to retain lower levels of GAG (0.5–0.9 µg/mm³) while degrading more (up to 150%). SEM shows the scaffolds from the physical decellularization treatment had a clearer fibrous structure compared to the variable porosity of the chemical treatment.
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Cycloaddition of CO
<sub>2</sub>
and Epoxide at Ambient Conditions Catalyzed by PW
<sub>12</sub>
@HKUST-1 Composite and Optimization Study Using RSM
(American Chemical Society (ACS), 2026-02-06)
Suleiman Gani Musa
;
Zulkifli Merican Aljunid Merican
;
Abdurrashid Haruna
;
Noor Asmawati Binti Mohd Zabidi
;
Mohammad Yusuf
The search for a sustainable and effective catalyst for CO2 fixing using epoxides is part of a global quest for economical carbon capture and utilization solutions. The coupling of metal–organic frameworks (MOFs) with other functional nanomaterials such as polyoxometalates (POMs) has proven to be effective in increasing the heterogeneity and stability of pristine MOF materials. We demonstrated the application of MOF/POM-supported composites (POM@MOF) as catalysts for the fixation of CO2 and epichlorohydrin epoxide (ECH) to chloropropene carbonate. The catalyst was synthesized by impregnating HKUST-1 with (TBA)3PW12O40, a Keggin-type polyoxometalate. The obtained composite, PW12@HKUST-1, was characterized by Fourier-transform infrared spectroscopy (FT-IR), X-ray diffraction (XRD), scanning electron microscopy (SEM) with energy-dispersive spectroscopy (EDS), and N2 adsorption–desorption isotherms. The POM’s presence was confirmed by various analyses. Optimization of the reaction variables was conducted using the response surface methodology model. The optimum condition for the CCD-RSM studies was catalyst amount: 12.50 mg, cocatalyst amount: 0.055 mmol, temperature: 100 °C, and time: mechanism of CO2 conversion 15 h, attaining 89.70% conversion and 97% selectivity. The catalyst shows a remarkable increase in stability and reusability by recycling six times in a row without any significant decrease in catalytic activity.
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Case Report: Immune reconstitution–related neurological deterioration in advanced HIV infection with multiple opportunistic infections: a diagnostic challenge
(Frontiers Media SA, 2026-02-23)
Jesús Endara-Mina
;
Cristopher-Josué Escudero
;
Victor Samaniego
;
Karla Fuentes
;
William Tapia
Immune reconstitution inflammatory syndrome (IRIS) is a serious complication following antiretroviral therapy (ART) initiation in patients with advanced HIV infection, particularly when the central nervous system is involved and multiple opportunistic infections coexist. We report the case of a 26-year-old man with newly diagnosed advanced HIV infection who developed rapid neurological deterioration shortly after ART initiation during hospitalization. Neuroimaging revealed a necrotic central nervous system mass lesion with extensive edema and mass effect. Serological testing demonstrated prior exposure to Toxoplasma gondii and active Treponema pallidum infection. Despite broad antimicrobial therapy, corticosteroids, and supportive care, the patient experienced progressive clinical deterioration and died. Retrospective reassessment of the clinical course, imaging findings, epidemiological context, and treatment response suggested an IRIS-related inflammatory process, with central nervous system tuberculosis–associated IRIS representing the most plausible underlying mechanism, while toxoplasmosis and syphilis were considered potential concomitant or confounding conditions. This case underscores the diagnostic complexity of IRIS in advanced HIV infection and highlights the importance of a cautious, probabilistic, and evidence-based approach to avoid etiologic misclassification in severe neurological presentations.
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Case Report: CYLD cutaneous syndrome with malignant transformation to spiradenocarcinoma: cooperative effects of CYLD truncation and an MSH2 clamp-domain variant in an Ecuadorian patient
(Frontiers Media SA, 2026-02-18)
Carlos Reyes-Silva
;
Gabriela Jaramillo-Koupermann
;
Maritza Quishpe
;
Rosa Pacheco
;
Skehirly Burgos-Tapia
Background: CYLD cutaneous syndrome (CCS) is a rare autosomal dominant disorder caused by germline CYLD variants and characterized by multiple skin adnexal tumors. Malignant transformation is uncommon, and cooperative genetic events remain poorly defined, particularly in underrepresented populations. Case presentation: We report a 61-year-old Ecuadorian woman with multiple scalp cylindromas and spiradenomas, including one spiradenocarcinoma. Family history was notable for malignancies in first- and second-degree relatives. Whole-exome sequencing identified a heterozygous nonsense CYLD variant (c.1207C > T; p.Gln403Ter), classified as likely pathogenic, and a homozygous missense MSH2 variant (c.1609A > G; p.Lys537Glu) of uncertain significance. Histopathology confirmed malignant transformation, while immunohistochemistry showed preserved MSH2 expression with a microsatellite-stable phenotype. Nevertheless, a functional impact of the MSH2 variant cannot be excluded. Consistent with these observations, in silico modeling demonstrated that CYLD truncation eliminates the catalytic USP domain and regulatory motifs, abolishing deubiquitinase activity, whereas the MSH2 substitution affects a conserved residue in the clamp domain, likely destabilizing the MSH2–MSH6 complex despite intact nuclear localization. Conclusion: This is the first genetically confirmed case of CCS in Ecuador and among the few reported in South America. Beyond expanding the geographic spectrum, our findings highlight the value of integrating genomic and protein analyses to uncover cooperative mechanisms of malignant progression. Such integrative genomic approaches refine diagnosis, enhance genotype–phenotype interpretation, and deepen understanding of malignant transformation in CCS, particularly in underrepresented populations.
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A review of surface disorders in strawberry: insights and challenges
(Frontiers Media SA, 2026-02-16)
HURTADO PÉREZ, GRECIA ALEXANDRA
;
Moritz Knoche
Strawberry (Fragaria × ananassa Duch.) is a high-value crop grown for the fresh fruit market. An attractive appearance is a key quality factor but is often compromised by fruit-surface disorders. Common ones are water soaking, cracking, bronzing, albinism and dried calyx. This review summarizes our current understanding of the mechanistic bases of these disorders, their triggers and their effective mitigation strategies. Water soaking and cracking both require the formation of cuticular microcracks, which develop when the fruit cuticle fails under tensile strain during expansion growth. Formation of microcracks is aggravated by surface wetness and exposure to high relative humidity. Cracking manifests as visible splits that penetrate the underlying tissues, whereas water soaking originates from excessive water uptake through the pre-existing microcracks, resulting in translucent, water-logged areas on the fruit surface. Bronzing results from a range of causes, most commonly high temperature and ultraviolet stress, which damage epidermal tissues and induce repair responses that produce brownish or yellowish, desiccated surface patches. Albinism and dried calyx, by contrast, are associated with physiological and nutritional imbalances, including excessive vegetative vigor and impaired calcium transport under saline conditions, leading to poorly colored, soft fruit and necrotic sepals, respectively. Although these disorders differ in symptoms, they share common drivers related to environmental stress, tissue integrity, and mineral nutrition. Management therefore targets multiple leverage points, including reduced moisture exposure, moderation of thermal stress, optimized mineral nutrition, and the selection of genotypes with more resilient surface tissues. Better management of surface disorders in strawberry requires a more thorough understanding of their mechanistic bases. It is likely the ultimate solution will be an integrated approach that combines cultural measures and selective breeding
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Transcranial ultrasonography in the detection of cerebrovascular accident: a systematic review and bivariate random-effects meta-analysis
(Frontiers Media SA, 2026-02-19)
Ricardo Pinto-Villalba
;
Andrea Paz
;
Jordy Arellano
;
Galo García
;
Mateo Carrera
Background/objectives: Stroke remains a leading cause of disability and death worldwide, with rapid diagnosis critical for effective treatment. Transcranial ultrasonography offers a potentially valuable diagnostic tool, particularly in resource-limited settings. This study aimed to evaluate the diagnostic accuracy of transcranial Doppler (TCD) and transcranial color-coded duplex sonography (TCCS) for detecting ischemic and hemorrhagic stroke. Methods: We conducted a systematic review and bivariate random-effects meta-analysis following PRISMA guidelines (PROSPERO CRD42023471425). Three databases (Scopus, PubMed, Web of Science) were searched from inception to November 20, 2022. We included studies assessing adult (≥18 years) stroke patients using TCD or TCCS compared to reference standards (MRI, CT, or angiography). Exclusion criteria included pediatric populations, animal studies, vasospasm assessments, and studies with <10 participants. Four reviewers independently screened studies, extracted data, and assessed risk of bias using NIH tools. Primary outcomes were pooled sensitivity and specificity analyzed using bivariate random-effects models; this technique was chosen as it jointly analyses sensitivity and specificity using a random-effects model that accounts for their correlation and between-study variability. Results: From 16,397 records, 26 studies met inclusion criteria, with 13 studies (n = 802 ultrasound examinations) included in meta-analysis. Overall diagnostic accuracy showed sensitivity of 81.1% (95% CI 73.1–87.2%) and specificity of 85.5% (95% CI 71.4–93.3%), with an AUC of 0.874. TCCS demonstrated higher sensitivity for hemorrhagic stroke (87.8%) than for ischemic stroke (77.2%). TCCS showed sensitivity of 74.8% (95% CI 66.4–81.6%) and specificity of 85.2% (95% CI 63.0–95.1%), with an AUC of 0.796. Risk of bias was low in 30.6% of studies, moderate in 50%, and high in 19.4%. Heterogeneity was low to moderate (I2 = 6.2–23.1%). Conclusion: Transcranial ultrasonography demonstrates good diagnostic accuracy for stroke detection. While operator-dependent and limited by acoustic window availability, these techniques, after thorough training and validation, may be prioritized in low-resource setting were computed tomography is not readily available through the means of formal capacitation and feasibility studies. The moderate risk of bias in half of included studies suggests a lack of higher-quality research. Systematic review registration: CRD42023471425.
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The effect of La and Ce on the microstructure and properties of cast Al Si alloys with high thermal conductivity
(Elsevier BV, 2026-04)
Fubiao Ge
;
Yezeng He
;
Xuping Zhang
;
Reza Behmadi
;
Siyi Sun
The study focused on the impacts of lanthanum and cerium on the microstructure, mechanical properties, and thermal conductivity of Al-6 wt%Si-0.5 wt%Cu-0.6 wt%Fe alloys. Accordingly, it was determined that the synergistic addition of La and Ce significantly refined the alloy structure. In Al-6Si-0.6Fe-0.5Cu-0.3(La + Ce), the SDAS decreased to 13.1 μm and eutectic Si transformed from coarse plates into fine particles; the size and aspect ratio of Si were reduced by 90.13% and 81.48%, respectively. Meanwhile, the length of Fe-rich phases was shortened by 57.51%. Consequently, the alloy exhibited enhanced properties compared with the rare earth-free alloy, such as thermal conductivity up to 159.68 W/(m·K), ultimate tensile strength of 231.3 MPa, and elongation up to 6.89%, corresponding to enhancements of 13.79%, 24.96%, and 118.73%, respectively. The alloy prepared by high-pressure die casting exhibits excellent properties, with thermal conductivity reaching 175.58 W/(m·K), tensile strength of 240.6 MPa, and elongation after fracture of 7.62%. Furthermore, largescale fully formed LED lamp heat sinks have been successfully prepared from this alloy using HPDC; in this way, its engineering applicability has been confirmed. These enhancements are ascribed to eutectic Si refinement, which reduces electron scattering, and rare-earth enrichment at Fe-rich phase interfaces, suppressing their growth and strengthening the matrix. The findings provide an insight into the key mechanism of the rare earth synergy in enhancement of thermo-mechanical properties in AlSi alloys, opening a new way in material design for effective thermal management applications.
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Risks and Ethical Challenges of Emotional Intelligence in Conversational Agents
(Springer Nature Switzerland, 2026)
Jacqueline del Pilar Villacís-Guerrero
;
Wilson Chancusig-Espín
;
Jennifer Samanta Hurtado-Caina
;
Juan Carlos Chiza
The development of emotionally intelligent conversational agents has attracted growing interest due to their potential to enhance human–machine interaction. These systems aim to simulate empathy by recognizing and responding to human emotions, enabling more fluid, personalized, and engaging communication. Yet, this simulated empathy raises significant technical, ethical, and social concerns, particularly in domains such as healthcare, education, and commerce, where emotional influence can shape decision-making and user well-being. This article presents a narrative review that critically examines the integration of emotional intelligenceEmotional intelligence into conversational AI. It draws on interdisciplinary literature in artificial intelligenceArtificial intelligence, affective computing, and ethicsEthics, reviewing peer-reviewed sources published between 2015 and 2024. The analysis applied a thematic approach to identify recurrent patterns, conceptual tensions, and sector-specific risks. Findings show that while advances in voice analysis, natural language processing, and deep learning have improved emotion detection, important limitations persist in multicultural and linguistically diverse contexts. These gaps risk misinterpretations, inappropriate responses, or discriminatory interactions. Moreover, users may mistakenly interpret emotionally tailored responses as genuine empathy, fostering emotional confusion or dependence. The potential for manipulative or persuasive uses further complicates their ethical deployment. This study provides a novel contribution by explicitly linking simulated empathy with risks of anthropomorphization, autonomy loss, and regulatory gaps, thereby bridging technical advances with their socio-ethical implications. It highlights practical challenges for applied contexts such as clinical support, education, and digital services, offering insights for both researchers and practitioners. Ethical principles, inclusive design, and regulatory frameworks are needed to ensure that emotionally intelligent AIArtificial intelligence supports rather than exploits human emotional experience.
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Prediction of consolidation behavior of modified clayey soil reinforced with artificial geo-fibers using explainable artificial intelligence
(Elsevier BV, 2026-04)
Mohammed Faisal Noaman
;
Moinul Haq
;
Sanjog Chhetri Sapkota
;
Mehboob Anwer Khan
;
Kausar Ali
The present study illustrates an experimental, machine learning (ML), and explainable artificial intelligence integrated framework for the prediction of swelling pressure and consolidation characteristics of polypropylene geo-fiber (PPGF) reinforced clayey soil. A dataset of laboratory consolidation tests that included PPGF content, coefficient of consolidation (Cv), coefficient of compressibility (av), compression index (Cc), coefficient of volume change (mv), settlement (S), and swelling pressure values (ps) was compiled. The experimental observations revealed that the Cc, mv, and S was averagely decreased by about 39.5%, 45.31%, and 90%, respectively, at the optimum PPGF content of 0.3%, thus demonstrating the effectiveness of reinforcing fibers in restraining time-dependent deformation. Six machine learning models, including KNN, SVM, ANN, DT, RF, and XGB, were developed using five folds cross-validation. The XGB regressor proved to have the best predictive performances, having an R2 of 0.994 (with RMSE of 3.14) on training and generalizability in testing, with an R2 of 0.913 (having RMSE of 14.05). The remaining models demonstrated comparatively weaker performance, with ANN and DT exhibiting pronounced overfitting, while KNN and SVM failed to adequately capture the nonlinear swelling response of the gels. The XAI analysis using SHAP indicates that polypropylene geofiber content is the most influential factor governing swelling pressure, followed by mv and soil compressibility. An interactive graphical user interface was built based on the optimized XGB model to predict and visualize swelling pressure in real time from given user inputs. The proposed model integrates experimental validation with robust predictive capability and interpretability, and is complemented by a user-friendly interface and a reliable decision-support system for geotechnical design and soil improvement.

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