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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
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Gabriela Jaramillo-Koupermann
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Maritza Quishpe
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Rosa Pacheco
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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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Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series
(Medwave Estudios Limitada, 2026-01-14)
Elius Paz-Cruz
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Patricia Guevara-Ramirez
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Arianne Llamos Paneque
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Emily Onofre
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Christian Rivas Iglesias
INTRODUCTION Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the NF1 gene, characterized by variable clinical manifestations such as pigmentary abnormalities, neurofibromas, skeletal dysplasia, and tumor predisposition. However, genotype-phenotype correlations remain insufficiently explored, particularly in underrepresented populations. METHODS Three unrelated Ecuadorian pediatric patients with a presumptive diagnosis of NF1 underwent detailed clinical evaluation, next-generation sequencing (NGS), using the TruSight Cancer panel, and ancestry analysis based on 46 ancestry-informative insertion-deletion (InDel) markers. Variants were classified according to ACMG/AMP guidelines using the Franklin and Variant Interpreter platforms, which incorporate in silico prediction tools to assess variant pathogenicity. RESULTS Three distinct pathogenic NF1 variants were identified: one nonsense (p.Arg1534Ter) and two missense (p.Gln20His, p.Asp1644Asn). Clinical findings included early-onset orbital plexiform neurofibroma, multiple café-au-lait macules, axillary/inguinal freckling, radial bone dysplasia, cutaneous neurofibromas, and prepubertal gynecomastia. All patients exhibited predominantly Native American ancestry. In silico analyses predicted a pathogenic classification of all variants. Early pigmentary signs, present in all cases, served as key diagnostic indicators. CONCLUSIONS This case series expands the mutational and phenotypic spectrum of NF1 in a pediatric Ecuadorian cohort. Findings underscore the diagnostic value of early pigmentary signs and highlight less commonly reported manifestations such as radial bone dysplasia and prepubertal gynecomastia. Integrating molecular diagnostics with early clinical evaluation may enable earlier and more precise diagnosis, guiding personalized management strategies. Further studies should investigate genotype-phenotype correlations and the influence of ancestry on NF1 expression.
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Research note: High-resolution detection of Salmonella serovar diversity in broilers from Ecuador using CRISPR-SeroSeq
(Elsevier BV, 2026-04)
Christian Vinueza-Burgos
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José L. Medina-Santana
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Sofía de Janon
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VILLAVICENCIO ZAMBRANO, FERNANDO XAVIER
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David Ayala-Velastegui
Salmonella enterica is a major foodborne pathogen associated with poultry, representing a critical challenge for food safety worldwide. Accurate identification of serovar diversity is essential for designing control strategies; however, conventional culture-based methods often underestimate this complexity. In this study, we report the first application of CRISPR-SeroSeq in Ecuador to characterize Salmonella serovar diversity in commercial broilers. A total of 76 flocks (one hose of one farm in different cycles) originated across 19 broiler farms were sampled. All flocks belonged to an integrated poultry company. From all samples, 77.6% tested positive for Salmonella. CRISPR-SeroSeq analysis revealed a clear dominance of serovar Infantis, even within mixed populations. Importantly, serovars of significant public health concern, including Enteritidis and Typhimurium, were detected at low frequencies that would likely be missed by conventional methods. These findings highlight the utility of high-resolution serotyping approaches, providing valuable insights for targeted interventions to improve poultry production biosecurity and food safety.
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Navigating Uncertainty Through AI Adoption: Dynamic Capabilities, Strategic Innovation Performance, and Competitiveness in Ecuadorian SMEs
(MDPI AG, 2025-11-29)
SÁNCHEZ RODRÍGUEZ, ALEXANDER
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GARCIA VIDAL, GELMAR
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FERNÁNDEZ OCHOA, YANDI
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MARTÍNEZ VIVAR, RODOBALDO
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GAVILANES VENEGAS, ANDREA ESTEFANÍA
Artificial intelligence (AI) is increasingly positioned as an enabler of strategic renewal and competitiveness for small and medium-sized enterprises (SMEs) in emerging economies. However, its adoption remains limited and uneven, constrained by shortages of skilled talent, weak data infrastructures, and financial barriers. This study examines Ecuadorian SMEs as a representative case within this broader context, analyzing survey data from 385 firms to diagnose AI adoption patterns and validate a structural model linking AI adoption, dynamic capabilities, and strategic innovation performance. Results from Partial Least Squares Structural Equation Modeling (PLS-SEM) confirm that AI adoption enhances innovation and competitiveness both directly and indirectly through dynamic capabilities, specifically firms’ abilities to sense opportunities, seize them through innovation, and reconfigure resources. The model explains 41% of the variance in strategic innovation performance, providing robust empirical support for the proposed AI-Driven Dynamic Capabilities Framework for Strategic Innovation and Competitiveness. The study clarifies how perceptual and contextual enablers of adoption (TAM/TOE) interact with capability-building mechanisms (RBV/DCT), offering a more integrated understanding of how SMEs assimilate AI under resource constraints. These findings demonstrate how SMEs translate early adoption into strategic advantage under conditions of uncertainty. The study also offers actionable guidance by showing that the most effective interventions for SMEs focus on strengthening foundational data and organizational capabilities rather than promoting complex AI systems beyond current readiness levels.
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Spatiotemporal trends in hospitalizations and mortality due to mental disorders in Ecuador 2014–2023. A national epidemiological study
(Springer Science and Business Media LLC, 2025-11-24)
NÚÑEZ VÁSQUEZ, CRISTINA ELIZABETH
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LALANGUI VIVANCO, KARINA DEL ROCÍO
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IZURIETA GUEVARA, MÓNICA GIOCONDA
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Yekaterina Altuna
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Daniel Simancas-Racines
Background: Mental disorders constitute a growing public health concern, accounting for a substantial share of global morbidity and mortality. In Ecuador, despite increasing policy attention, the availability of epidemiological evidence remains limited. This study examines hospitalizations and mortality due to mental disorders (ICD-10 F00–F99) from 2014 to 2023, aiming to generate robust evidence to support informed decision-making and strengthen mental health planning within the national health system. Methods: This study analyzed data from national public-access registries. Descriptive statistics were calculated by sex, age, year, region, and province, and crude rates per 100,000 inhabitants were estimated. Spatiotemporal patterns were examined using k-means clustering and visualized through thematic maps. Results: Between 2014 and 2023, Ecuador recorded 93,680 hospitalizations and 2,281 deaths due to mental disorders, with the highest hospitalization burden observed among individuals aged 20–29 years and a notable increase among females aged 10–19. Substance use disorders predominated in men, whereas mood disorders were more frequent in women. Spatial clustering revealed distinct regional patterns, with the Sierra region, home to approximately 43% of the population, exhibiting the highest hospitalization and mortality rates, whereas the Galápagos province showed extreme temporal variability. Conclusion: Over the past decade, Ecuador has experienced a steady increase in hospitalizations and deaths associated with mental disorders. The results underscore the urgent need to strengthen community-based mental health systems, update national care models, and develop evidence-based promotion and prevention strategies.
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Deep Learning-Based Digital, Hyperspectral, and Near-Infrared (NIR) Imaging for Process-Level Quality Control in Ecuador’s Agri-Food Industry: An ISO-Aligned Framework
(MDPI AG, 2025-11-04)
SANCHEZ RODRIGUEZ, ALEXANDER
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ULLRICH ESTRELLA, RICHARD DENNIS
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GONZALEZ GALLARDO, CARLOS ERNESTO
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JÁCOME VILLACRÉS, MARÍA BELÉN
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GARCIA VIDAL, GELMAR
Ensuring consistent quality and safety in agri-food processing is a strategic priority for firms seeking compliance with international standards such as ISO 9001 and ISO 22000. Traditional inspection practices in Ecuador’s food industry remain largely destructive, labor-intensive, and subjective, limiting real-time decision-making. This study developed a non-destructive, ISO-aligned framework for process-level quality control by integrating digital (RGB) imaging for surface-level inspection, hyperspectral imaging (HSI) for internal-quality prediction (e.g., moisture, firmness, and freshness), near-infrared spectroscopy (NIRS) for compositional and authenticity analysis, and deep learning (DL) models for automated classification of ripeness, maturity, and defects. Experimental results across four flagship commodities—bananas, cacao, coffee, and shrimp—achieved classification accuracies above 88% and ROC AUC values exceeding 0.90, confirming the robustness of AI-driven, multimodal (RGB–HSI–NIRS) inspection under semi-industrial conveyor conditions. Beyond technological performance, the findings demonstrate that digital inspection reinforces ISO principles of evidence-based decision-making, conformity verification, and traceability, thereby operationalizing the Plan–Do–Check–Act (PDCA) cycle at digital speed. The study contributes theoretically by advancing the conceptualization of Quality 4.0 as a socio-technical transformation that embeds AI-driven sensing and analytics within management standards, and practically by providing a roadmap for Ecuadorian SMEs to strengthen export competitiveness through automated, real-time, and auditable quality assurance.
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Apoyo político y microplanificación como factores de éxito para una campaña de vacunación de seguimiento de alta calidad, Ecuador, 2023
(Pan American Health Organization, 2025-04-09)
Gabriela Aguinaga-Romero
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Cristina Jacome
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Jonathan Márquez
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Jackeline Pinos
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Ania Carmenates
Objective. To describe the results, achievements, and lessons learned through administrative coverage and rapid monitoring of a follow-up vaccination campaign, in the context of political prioritization and micro-planning as determining factors in the different stages of follow-up campaigns, and the application of these good practices to strengthen the National Immunization Program. Method. This is a special descriptive epidemiological report on a high-quality follow-up vaccination campaign in Ecuador. The sources of information used were: population estimates from the 2010 and 2022 censuses carried out by the National Institute of Statistics and Census; calculation of the susceptible cohort for vaccination with the bivalent vaccine (measles and rubella) and with the oral and injectable polio vaccines; definition of vaccination strategies and tactics, and vaccine scheduling by type and age group; and macro- and micro-planning instruments generated at the local level, which involve quantitative variables related to human, material, logistic, and financial resources. Achievement of high-quality criteria and indicators for follow-up vaccination campaigns were also assessed, including effectiveness, homogeneity, timeliness, simultaneity, efficiency, and rapid monitoring. Results. The micro-planning process was fully implemented nationwide in 95% of health facilities (1879) four weeks prior to implementation of the follow-up campaign. High-quality follow-up was conducted over 14 weeks: 3 395 716 children aged 1-12 years were vaccinated and 99% administrative coverage was achieved, with 71% of provinces (17) reaching ≥95% coverage. In the remaining 29% of provinces (7), coverage rates were between 90% and 94%, with a total of 5 556 128 doses of bivalent vaccine and oral or injectable polio vaccine. Based on the quality criteria, the country achieved 95% of the targeted results. Conclusions. Political support and prioritization, together with the implementation of high-quality micro-planning of the follow-up vaccination campaign generated at the local level, enabled the achievement of targets and results at ≥95% coverage. This is an innovative and successful public health experience that has strengthened the National Immunization Program in Ecuador and other countries in the Region of the Americas. Local health teams conducted micro-planning adapted to the local context, using the methodology and instruments to identify areas of responsibility in orderly, systematic intramural and extramural vaccination campaigns.
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Steering through the landscape: A study on entrepreneurs' perceptions of business environments
(Centre for Evaluation in Education and Science (CEON/CEES), 2025)
Gelmar García-Vidal
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Laritza Guzmán-Vilar
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Alexander Sánchez-Rodríguez
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Reyner Pérez-Campdesuñer
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Rodobaldo Martínez-Vivar
The purpose of this research is to analyze the perception of the environment by SME owners and managers. The research methodology used in this study involved collecting information from 384 SME owners-managers from different sectors of the economy in Santo Domingo de los Tsáchilas, Ecuador. Proportional stratified sampling was used with 95% confidence and an error of 5%. The data was collected through a self-administered cross-sectional survey questionnaire that aimed to get SME owner-managers to describe how they perceive their environment making a combination of the value of each variable. The study applied categorical principal component analysis (CATPCA) to identify the component structure of social capital by considering the ordinal and nominal nature of the data. The methodology used allowed us to understand the perception of the environment by different SME owner-managers from different sectors of the economy. It also revealed the strategic approach they considered most appropriate to the market situation in which they operate. The practical implications of this research suggest that SME owner-managers can benefit from understanding the perception of the environment by adopting flexible and adaptable solutions to changing environmental conditions, using environmental profiles to uncover opportunities, and anticipating changes to gain valuable insights.
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An intersectionality perspective on tuberculosis: social determinants affecting tuberculosis mortality rate in Ecuador
(Frontiers Media SA, 2025-10-24)
Ángel Sebastián Rodríguez-Pazmiño
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Darwin Paredes-Núñez
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RAMOS SARMIENTO, DANIEL ALEXANDER
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LALANGUI VIVANCO, KARINA DEL ROCÍO
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Solon Alberto Orlando
The Intersectionality approach to studying tuberculosis (TB) is a complex one. While historical data and indicators consistently suggest a positive correlation between social determinants, such as poverty, and TB mortality, the strength of this association varies across different regions and countries. Overcrowding and population density are also recognized as risk factors for TB transmission. Methods In this study, we conducted a descriptive and observational statistical analysis of TB mortality in Ecuador using the most recent public data from 2010. We examined the association between TB mortality and poverty, as well as territorial distribution, population density, and overcrowding. Results Our univariate analysis results indicate that the rural parishes or canton capitals in the first quintile of poverty (Q1) had the highest average mortality rates (14.23 per 100,000 inhabitants). Furthermore, the average TB mortality ratio was substantially higher in rural areas compared to urban ones (12.72 vs. 7.5 per 100,000 inhabitants). Interestingly, zones with the highest population density had a significantly lower average TB mortality ratio than those with the lowest density (4.82 vs. 15.19 per 100,000 inhabitants). Likewise, overcrowding analysis reveals a significant difference between the group with the highest level (O1) vs. the lowest one (O5; 14.3 vs. 6.8 per 100,000 inhabitants). On the other hand, a multivariate linear regression model agrees that three of the four independent variables evaluated had statistically significant associations with tuberculosis mortality rate. The percentage of poverty, living in a rural area, and population density were significant predictors of higher mortality. In contrast, the level of overcrowding, as determined by multivariate analysis, did not show a significant association when the other independent variables were taken into account. Discussion These findings reinforce the strong link between TB mortality and poverty, rurality, a discreet relationship with overcrowding, and an inverse relationship with population density in the Ecuadorian context, highlighting the need for targeted public health interventions in rural underserved communities. Future research should explore how changes in socioeconomic conditions and healthcare access have influenced TB incidence.
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Artificial Intelligence in Ecuadorian SMEs: Drivers and Obstacles to Adoption
(MDPI AG, 2025-05-27)
PEREZ CAMPDESUÑER, REYNER FRANCISCO
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SANCHEZ RODRIGUEZ, ALEXANDER
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GARCIA VIDAL, GELMAR
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MARTÍNEZ VIVAR, RODOBALDO
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Margarita De Miguel-Guzmán
This study analyzes the current state of artificial intelligence (AI) adoption among micro-, small-, and medium-sized enterprises (MSMEs) in Ecuador, with a focus on its application across core business functions. Using a stratified random sample of 385 firms from the most representative economic sectors, a survey instrument was designed to assess three dimensions: access to AI-enabling conditions, degree of AI utilization, and organizational characteristics. The results reveal that AI adoption remains limited and highly concentrated in marketing-related functions, particularly in content generation and social media automation, with minimal implementation in finance, logistics, and human resource management. The study also identifies the main barriers hindering AI adoption. The lack of qualified professionals and the unavailability of structured databases emerged as the most critical obstacles, followed by limited financial capacity. One-way ANOVA and Kruskal–Wallis tests confirmed significant differences in AI adoption levels based on company size and sector, especially in areas such as inventory optimization and design prototyping. These findings highlight a gap between the potential of AI technologies and their real-world implementation in Ecuadorian MSMEs. They underscore the need for targeted strategies focused on workforce training, digital infrastructure development, and institutional support to promote broader and more effective AI integration.

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