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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
;
Patricia Guevara-Ramirez
;
Arianne Llamos Paneque
;
Emily Onofre
;
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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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
;
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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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
;
Cristina Jacome
;
Jonathan Márquez
;
Jackeline Pinos
;
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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