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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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Endometriosis as a Systemic and Complex Disease: Toward Phenotype-Based Classification and Personalized Therapy
(MDPI AG, 2026-01-16)
Daniel Simancas-Racines
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Emilia Jiménez Flores
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Martha Montalvan
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Raquel Horowitz
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Valeria Araujo
Endometriosis is traditionally conceptualized as a pelvic lesion–centered disease; however, mounting evidence indicates it is a chronic, systemic, and multifactorial inflammatory disorder. This review examines the molecular dialog between ectopic endometrial tissue, the immune system, and peripheral organs, highlighting mechanisms that underlie disease chronicity, symptom variability, and therapeutic resistance. Ectopic endometrium exhibits distinct transcriptomic and epigenetic signatures, disrupted hormonal signaling, and a pro-inflammatory microenvironment characterized by inflammatory mediators, prostaglandins, and matrix metalloproteinases. Immune-endometrial crosstalk fosters immune evasion through altered cytokine profiles, extracellular vesicles, immune checkpoint molecules, and immunomodulatory microRNAs, enabling lesion persistence. Beyond the pelvis, systemic low-grade inflammation, circulating cytokines, and microRNAs reflect a molecular spillover that contributes to chronic pain, fatigue, hypothalamic–pituitary–adrenal axis dysregulation, and emerging gut–endometrium interactions. Furthermore, circulating biomarkers—including microRNAs, lncRNAs, extracellular vesicles, and proteomic signatures—offer potential for early diagnosis, patient stratification, and monitoring of therapeutic responses. Conventional hormonal therapies demonstrate limited efficacy, whereas novel molecular targets and delivery systems, including angiogenesis inhibitors, immune modulators, epigenetic regulators, and nanotherapeutics, show promise for precision intervention. A systems medicine framework, integrating multi-omics analyses and network-based approaches, supports reconceptualizing endometriosis as a systemic inflammatory condition with gynecologic manifestations. This perspective emphasizes the need for interdisciplinary collaboration to advance diagnostics, therapeutics, and individualized patient care, ultimately moving beyond a lesion-centered paradigm toward a molecularly informed, holistic understanding of endometriosis.
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Heavy Metal-Contaminated Soils and Gastric Cancer Risk: Molecular Insights and the Relevance of a One Health Perspective
(MDPI AG, 2025-11-27)
Claudia Reytor-González
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LEYVA RICARDO, SONIA EMILIA
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Yasniel Sánchez Suárez
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Vianey Ariadna Burboa Charis
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Emilia Jiménez-Flores
Heavy metal contamination in agricultural soils has emerged as a critical environmental and public health issue associated with increased gastric cancer incidence worldwide. Among the most concerning pollutants are cadmium, arsenic, and lead, which persist in the environment and enter the human body primarily through the soil–plant–food chain. This review integrates environmental, molecular, and epidemiological evidence to explain how these metals alter gastric mucosal biology and promote carcinogenesis. Mechanistically, cadmium, arsenic, and lead trigger oxidative stress, mitochondrial dysfunction, DNA damage, and epigenetic reprogramming, resulting in genomic instability, resistance to programmed cell death, and the transformation of epithelial cells into invasive phenotypes. These molecular disruptions interact with Helicobacter pylori infection, microbial imbalance, chronic inflammation, and hypoxia-driven remodeling of the gastric stroma, all of which enhance angiogenesis and tumor progression. Advanced experimental platforms, such as gastric organoids, immune co-cultures, and humanized animal models, are improving the understanding of these complex interactions. Adopting a One Health perspective reveals the continuity between environmental contamination, agricultural production, and human disease, underscoring the importance of integrative monitoring systems that combine soil and crop analysis with molecular biomarkers in exposed populations. Strengthening this interdisciplinary approach is essential to design preventive strategies, guide remediation policies, and protect human, animals, and environmental health.
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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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Assessing the impact of a business intelligence program on the employability and well-being of low-income women: a quasi-experimental study protocol
(Frontiers Media SA, 2025-11-13)
Marco Faytong-Haro
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Alonso Quijano-Ruiz
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Daniel Sanchez-Pazmiño
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Patricio Alvarez-Muñoz
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Jose Diaz-Montenegro
Women are underrepresented globally in the field of data analytics, particularly in underdeveloped countries. We present a protocol to assess the impact of the New Dimensions program, a data analytics and business intelligence course sequence that aims to address this gender gap by providing free business intelligence training to disadvantaged women in Ecuador. The program offers both technical (Business Intelligence) and soft skills training, including Excel, Power BI, SQL, GitHub, R, Tableau, statistics, Python, and workshops on empowerment, employability, and public speech. The purpose of this quasi-experimental study is to assess the impact of this training program on employability and other well-being outcomes of the participants. A total of 80 individuals will be part in the study, of which 70 will be selected to participate in the program, 50 will receive both hard and soft skills training, and 20 only soft skills training. Ten individuals will form part of the control group with no intervention. The study design involves a nonrandomized control group composed of rejected applicants. Data will be collected through an online application form and a computer-based exam. The outcome measures are participants' labor market outcomes, income, food security, and economic stratification, among others. This protocol will prospectively evaluate the program's potential effectiveness; findings will inform future, larger randomized studies focused on employability and well-being in underrepresented groups.
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From meal to malfunction: exploring molecular pathways, biomarkers and interventions in postprandial cardiometabolic health
(Frontiers Media SA, 2025-10-29)
Claudia Reytor-González
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Cevallos-fernández Emilia Luciana
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JÁCOME VILLACRÉS, MARÍA BELÉN
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Daniel Simancas-Racines
Cardiometabolic diseases—including type 2 diabetes, cardiovascular disease, and metabolic dysfunction–associated steatotic liver disease—are increasingly driven by near-continuous after-meal exposure to glucose and lipid surges that traditional fasting tests often miss. This review prioritizes human studies from 2020 to 2025 and uses earlier work only as foundational anchors; non-English reports were excluded and preclinical findings are cited solely for mechanistic context. Evidence converges on six processes that amplify risk within hours after eating: impaired insulin signaling, delayed clearance of dietary lipids, mitochondrial and oxidative stress, loss of endothelial nitric oxide, inflammasome-mediated inflammation, and microbiome–hormone interactions. Dynamic, after-meal markers and simple composites such as the triglyceride–glucose index outperform fasting measures for identifying risk and guiding care. Practical strategies to shorten the “damage window” include Mediterranean-style meals with low glycemic index swaps and unsaturated fats, earlier distribution of daily energy and early time-restricted eating, a small pre-meal protein portion, and brief post-meal walking. Fast-acting medicines—glucagon-like peptide 1 and glucose-dependent insulinotropic polypeptide receptor agonists, rapid-acting insulin analogues, sodium–glucose cotransporter 2 inhibitors taken before meals, and proprotein convertase subtilisin/kexin type 9 inhibitors—further blunt peaks, while continuous glucose monitoring with algorithmic feedback enables timing-aware, person-specific adjustments. A tiered workflow—screen, stratify, and personalize—reframes prevention and treatment around after-meal physiology, with particular relevance to settings where resources are limited.
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Cryoagglutinin autoimmune hemolytic anemia secondary to Mycoplasma pneumoniae infection in patient with pernicious anemia: A case report
(Medwave Estudios Limitada, 2025-09-17)
Leslie Gricel Cuzco Macias
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Ashley Carolina Cuzco Macias
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Daniel Simancas-Racines
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PARISE VASCO, JUAN MARCOS
This report describes the rare case of a patient with autoimmune hemolytic anemia due to cryoagglutinins secondary to Mycoplasma pneumoniae infection, coexisting with pernicious anemia. A 56-year-old man presented with a ten-day history of cough and mucocutaneous pallor. Laboratory studies revealed megaloblastic anemia with low vitamin B12 levels, positive antibodies against intrinsic factor and parietal cells, as well as hemolysis parameters and a positive direct Coombs test for complement (C3d) with cryoagglutinins active at low temperatures. M. pneumoniae infection was confirmed by indirect immunofluorescence for IgM and IgG. Intramuscular B complex supplementation and doxycycline were administered for 14 days, improving hemoglobin and other hematological parameters within four weeks. This case highlights the diagnostic complexity in patients with rare hemolytic anemias in the context of atypical infections and underscores the importance of a multidisciplinary approach for their diagnosis and appropriate treatment. The coexistence of cryoagglutinin-mediated autoimmune hemolytic anemia and pernicious anemia poses diagnostic and therapeutic challenges that are relevant to clinical practice.
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MXenes in tissue engineering and regenerative medicine: Advances, challenges, and future perspectives
(Elsevier BV, 2025-10)
Ali Mohammad Amani
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Lobat Tayebi
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Ehsan Vafa
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Mohammad Javad Azizli
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Milad Abbasi
The appealing charm of two-dimensional (2D) materials has sparked a wave of innovation across diverse scientific domains, particularly in the realm of biomedical and therapeutic applications. Among these remarkable materials, MXenes stand out as transition metal nitrides and carbides endowed with extraordinary properties. Boasting low toxicity, expansive surface area, antibacterial prowess, biocompatibility, hydrophilicity, and impressive electrical conductivity, MXenes hold immense promise for a myriad of biomedical applications from bioimaging to cancer therapy and beyond. Despite their vast potential, challenges persist in ensuring controlled drug release, stability in physiological milieus, and biodegradability. By harnessing the transformative power of nanomedicine, meticulously crafted MXene ultra-thin nanosheets emerge as versatile inorganic nanosystems primed for diverse biomedical roles. Positioned as optimal candidates for regenerative medicine and tissue engineering, MXenes mark a new age of healthcare innovation. This article delves into the latest strides made in leveraging 2D MXenes for cutting-edge regenerative medicine and tissue engineering applications while shedding light on the formidable obstacles and promising future vistas awaiting exploration with these extraordinary materials.
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Unlocking the potential: very-low-energy ketogenic therapy in obesity-related disorders
(Informa UK Limited, 2025-01-16)
Daniel Simancas-Racines
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Claudia Reytor-González
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ZAMBRANO ESPINOSA, ANA KARINA
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Giuseppe Annunziata
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Angelo Michele Carella
The Very Low-Energy Ketogenic Therapy (VLEKT) is a structured, multi-phase dietary regimen characterized by a carbohydrate intake of less than 50 g/day and a daily caloric intake of fewer than 800 kcal, which induces ketosis and facilitates significant weight loss. Evidence suggests that this nutritional therapy can improve glycemic control, lipid profiles, and blood pressure, making it a promising option for managing type 2 diabetes (T2D) and reducing cardiovascular risk. These benefits are achieved through reductions in triglycerides and low-density lipoprotein cholesterol (LDL-c), alongside increases in high-density lipoprotein cholesterol (HDL-c). However, the effects of the VLEKT on lipid metabolism remain controversial. The review emphasizes the urgent need for further research to validate the long-term safety and efficacy of the VLEKT. It also highlights the critical role of personalized dietary plans, supervised by healthcare professionals, to optimize health outcomes and address individual patient needs.
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Mediterranean diet and breast cancer: A narrative review
(Medwave Estudios Limitada, 2025-03-04)
Claudia Reytor-González
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ZAMBRANO ESPINOSA, ANA KARINA
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Evelyn Frias-Toral
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Martín Campuzano-Donoso
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Daniel Simancas-Racines
Breast cancer is the second most common neoplasm and the deadliest among women worldwide. Its incidence varies according to human development and is associated with several risk factors, including age, genetic factors, obesity, and dietary habits. Recent research has revealed a significant influence of dietary habits on the onset and progression of this disease, which is why this review aims to comprehensively analyze the available literature to understand better the role played by the mediterranean diet in the development and management of breast cancer. The mediterranean diet has anti-inflammatory and antioxidant effects, may influence gene regulation, and produce hormonal and intestinal microbiota changes, resulting in improved quality of life for breast cancer patients by alleviating symptoms such as pain, inflammation, and reducing the risk and mortality from this disease. Evidence suggests that greater adherence to the mediterranean diet reduces the risk of breast cancer, as well as an improvement in patients' quality of life and mortality. These findings underscore its potential relevance in the context of dietary patterns associated with breast cancer prevention and management, which could inform considerations for public health policies. Further research is needed to confirm these observations and to understand the underlying mechanisms better.

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