Medwave最新文献

{"title":"Intrahepatic cholestasis of pregnancy in Chile: Analysis of epidemiological change and a microbiological hypothesis.","authors":"Cristian Contreras Vidal, Jorge Carvajal Cabrera","doi":"10.5867/medwave.2026.03.3161","DOIUrl":"10.5867/medwave.2026.03.3161","url":null,"abstract":"<p><p>Intrahepatic cholestasis of pregnancy is a gestational pathology with an unusual epidemiological and pathophysiological behavior that remains partially unexplained. Its current global incidence ranges from 0.1% to 2%. However, in Chile, the incidence reached up to 15% in the 1970s, with a marked decrease over subsequent decades, being nowadays about 1 to 2%. The reasons for this historical change are not fully understood. A literature-based analysis was conducted, focusing on clinical, microbiological, and epidemiological studies on intrahepatic cholestasis and other hepatobiliary diseases. The aim of this was to explore existing evidence and to propose a microbiological hypothesis that could help explain the epidemiological transition observed in Chile. Notably, the temporal reduction in incidence paralleled a nationwide decline in biliary disease and typhoid fever. We hypothesize that the eradication or significant reduction of certain pathogens, such as Typhi, may have contributed to the normalization of intrahepatic cholestasis of pregnancy rates in Chile.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 3","pages":"e3161"},"PeriodicalIF":0.8,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147729532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postmodern neuroses: Analysis from logotherapy.","authors":"Julio Cesar Suarez Luna, María Alejandra Bazan Marquez","doi":"10.5867/medwave.2026.02.3173","DOIUrl":"10.5867/medwave.2026.02.3173","url":null,"abstract":"<p><p>This article on critical hermeneutic methodology conducted an exegesis on the emergence of new neuroses described in the academic fields of logotherapy, philosophy, and social psychology in postmodernity, focusing on sociogenic and noogenic (spiritual) factors. To this end, the objective was to conduct an analysis of postmodern neuroses from the perspective of logotherapy, with a focus on sociogenic and noogenic origins. Guided by an existential analysis, it is understood that these postmodern neuroses contribute to the proliferation of a silent psychosocial malaise that originates in postmodern ideologies. Thus, this study was conducted from a metaclinical and paraclinical perspective, using logotherapeutic analysis to explore the ideological and social factors that give rise to these disturbances. Among these postmodern neuroses, we find algophobia as a generalized fear of human suffering, emotional hypochondria as the neurosis of constant happiness, narcissistic depression as the despondency of the performance subject, noogenic neurosis as the existential frustration of the era, and mass nihilism as emptiness and loss of hope in life. These neuroses provoke an existential crisis among postmodern social masses, which logotherapy views as a progressive loss of the values of self-realization and meaning.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 2","pages":"e3173"},"PeriodicalIF":0.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147521400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of the cultural adaptation of the \"Long Coronavirus Disease (COVID) Symptom and Impact Tools\" for the Chilean population.","authors":"Vivienne C Bachelet, Rosa Jiménez-Paneque, Patricio Gomolán, Ignacio Silva-Ayarza, Mercedes López Nitsche, Catalina O Andrades, Belén Carroza, Bruno Morgado","doi":"10.5867/medwave.2026.02.3205","DOIUrl":"10.5867/medwave.2026.02.3205","url":null,"abstract":"<p><strong>Introduction: </strong>The Long Coronavirus Disease (COVID) Symptom and Impact Tools (ST and IT) are self-administered instruments designed to monitor symptoms and the impact of long COVID. We translated and culturally adapted these tools for use in Chile. This study evaluated internal consistency and test-retest reliability for the IT, described reported symptoms with the ST, and explored changes over time.</p><p><strong>Methods: </strong>The first phase, previously published, involved translation and cultural adaptation. The second phase included 28 patients with persistent COVID-19 symptoms; 20 completed a second assessment. The IT assesses impact using six items, each scored 0-10 (total 0-60). The ST lists 53 symptoms across ten categories. Internal consistency of the IT was assessed using Cronbach's alpha and item-consistency indicators. Test-retest reliability was evaluated using the intraclass correlation coefficient (ICC, 95% CI) and a Bland-Altman analysis. ST responses were summarized with absolute and relative frequencies and confidence intervals.</p><p><strong>Results: </strong>The IT showed excellent internal consistency (Cronbach's alpha 0.945; 95% CI 0.906-0.971). Test-retest reliability was acceptable (ICC 0.72; 95% CI 0.43-0.88), with minimal bias in the Bland-Altman plot. General, neurological, thoracic, and ear-nose-throat symptoms were the most frequent. Participants reported a mean of 19 symptoms, with no significant differences between visits.</p><p><strong>Conclusions: </strong>The adapted tools demonstrated acceptable psychometric properties and appear suitable for use in Chile. Symptom reporting was extensive, underscoring the need for larger studies to confirm these findings.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 2","pages":"e3205"},"PeriodicalIF":0.8,"publicationDate":"2026-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"General aspects of rehabilitation in Guillain-Barre syndrome: A literature review.","authors":"Jaime Vallejos G, Cristóbal Jeldres C, Vicente Abarza de la P, José Miguel Muñoz R","doi":"10.5867/medwave.2026.02.3143","DOIUrl":"10.5867/medwave.2026.02.3143","url":null,"abstract":"<p><strong>Introduction: </strong>Guillain-Barré syndrome is the most common cause of acquired flaccid paralysis worldwide. Although care traditionally focuses on overcoming the acute phase, many patients continue to experience residual symptoms such as weakness, neuropathic pain, autonomic dysfunction, and fatigue. These sequelae can result in significant disability and adversely affect long-term functionality and quality of life, underscoring the importance of an early, coordinated, and multidisciplinary treatment approach.</p><p><strong>Methods: </strong>A non-systematic narrative review of the literature on functional recovery in adults with Guillain-Barré syndrome was conducted. The review included narrative and systematic review articles, original research studies, clinical practice guidelines, and expert consensus statements. The search strategy prioritized rehabilitation protocols, prognostic predictors, and interventions targeting motor, sensory, autonomic, and psychosocial domains. Articles were retrieved from PubMed, Embase, and PEDro databases, with preference given to publications from 2015 to 2025, in both English and Spanish.</p><p><strong>Results: </strong>Evidence supports the implementation of a structured rehabilitation program tailored to the patient's clinical stage, prognostic factors, and functional goals. Interventions include motor re-education, respiratory muscle training, orthotic prescription, neuropathic pain management, and symptomatic treatment of fatigue and autonomic disturbances, all while considering the individual's personal and social context. Prognostic tools such as the Modified Erasmus Guillain-Barré Syndrome Outcome Score and the Medical Research Council sum score are useful for designing the rehabilitation plan.</p><p><strong>Conclusion: </strong>The long-term sequelae of Guillain-Barré syndrome highlight the need for a comprehensive rehabilitation approach that encompasses physical, cognitive, and psychosocial domains. Early multidisciplinary interventions and continuity of care should be the therapeutic focus. Some rehabilitation interventions still require more evidence for their implementation in practice.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 2","pages":"e3143"},"PeriodicalIF":0.8,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147458412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Toward an embodied pedagogy of care in specialist training in Chile: radical care and humanization in public health.","authors":"Kristopher Gómez","doi":"10.5867/medwave.2026.02.3180","DOIUrl":"10.5867/medwave.2026.02.3180","url":null,"abstract":"<p><p>The training of health specialists is a strategic component for the operational, human, and territorial sustainability of the public health system. However, Chilean university training models-primarily oriented toward technical efficiency-have tended to marginalize the relational and ethical dimensions of care, weakening the experience of care and diminishing trust in health institutions. From a theoretical-reflective perspective, this article explores the possibilities and tensions that arise when transferring the principles of radical care and their performative version, Embodying Radical Care to the field of specialist medical training in Chile, proposing that these approaches may contribute to reconfiguring medical training processes toward an embodied ethics of care. From this perspective, the article develops a comparative analysis of theoretical approaches that integrates care ethics, the politics of interdependence, and performative practice. Incorporating these perspectives could strengthen relational and affective competencies in clinical teaching, deepening the learning process through the ethics of radical care and recognizing bodily experience and ethical sensitivity as dimensions of professional formation. At the same time, these principles could improve the experience of care by fostering a culture that acknowledges interdependence among people, institutions, and territories, thereby consolidating a more humane and sustainable medical practice. Ultimately, this reflection seeks to offer conceptual foundations for public policies on training and humanization in health that understand care not merely as a technical act, but as an ethical, political, and aesthetic practice essential for the sustainability of the health system.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 2","pages":"e3180"},"PeriodicalIF":0.8,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147434225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telehealth cochlear implant programming in Chile yields outcomes comparable to in-person clinical care.","authors":"Javiera Herrada Andreoli, Paul H Delano, Ana Maria Morris, Rocio Carvajal Diaz, Ana Claudia Martinho-Carvalho, Smita Agrawal","doi":"10.5867/medwave.2026.01.3164","DOIUrl":"10.5867/medwave.2026.01.3164","url":null,"abstract":"<p><strong>Introduction: </strong>Remote programming can improve access and help overcome barriers related to distance, cost, and travel in the follow-up care of cochlear implant users. This study evaluates the ease of use, effectiveness, and acceptability of the remote programming system for cochlear implant users.</p><p><strong>Methods: </strong>Cross-sectional study with 14 adult participants. The first phase included in-person and remote programming sessions at the hospital, while the second focused on remote programming sessions in participants' homes. In each phase, speech perception with the created programs was evaluated in a soundproof booth. Subjective feedback was obtained from audiologists and users through customized questionnaires.</p><p><strong>Results: </strong>Speech scores indicated that both maps created remotely at the hospital (first phase of the study) and those created at home (second phase of the study) provided comprehension of phrases and words that was not inferior to that of the map created in person. Scores for disyllabic words with audiovisual cues, obtained through remote programming at home, were not inferior to those obtained through remote programming at the hospital. In the subjective evaluation, both participants and audiologists indicated that the experience with remote programming was satisfactory.</p><p><strong>Conclusions: </strong>Remote programming was found to be as effective as in-person programming, as it provided access to the programming parameters and objective measures used in in-person sessions. Speech recognition results were similar for programs created in person and remotely. Participants indicated that the remote programming method and the resulting program were useful and acceptable, and that they experienced similar ease and quality of communication.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 1","pages":"e3164"},"PeriodicalIF":0.8,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147317903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contextual factors and use of heuristics in the care of critically ill patients by intensivists during the COVID-19 pandemic: a quasi-experimental vignette study in Chile.","authors":"Fabiola Jaramillo-Castell, Sergio Minué-Lorenzo, Demetrio Carmona-Derqui, Manuel Correa, Carmen Fernández-Aguilar, José Martín-Martín","doi":"10.5867/medwave.2026.01.3162","DOIUrl":"https://doi.org/10.5867/medwave.2026.01.3162","url":null,"abstract":"<p><strong>Background: </strong>Clinical decision-making in intensive care units during the COVID-19 pandemic has been poorly studied. The aims of this study are to assess the variability of intensivists' decision-making in Chile, analyze the association between clinical decision-making and certain contextual factors (time, pandemic wave, patient age, available clinical information), and estimate the frequency of heuristic use (statu quo, representativeness, and availability) in clinical decision-making.</p><p><strong>Methods: </strong>Quasi-experimental, cross-sectional, qualitative-quantitative study using an online questionnaire of clinical vignettes on the care of critically ill patients during the pandemic. Fifty-one intensivists participated, choosing between two alternatives per case, one of which involved using a heuristic. Frequencies were calculated to estimate variability. Intra-individual changes after manipulating contextual variables were evaluated using the McNemar test (mid-P) or binomial tests.</p><p><strong>Results: </strong>There is wide variability in the decision-making process: only 4 out of 16 cases exceeded 82% agreement. Contextual factors had a heterogeneous influence. No differences were observed regarding the time of day when the decision was made. The pandemic wave influenced 2 of the 4 vignettes. Regarding patient age, it was observed that the decision to withdraw treatment in the absence of a response within 30 days is more likely in older patients, but this is not a determining factor for admission to intensive care units. On the other hand, the clinical decision is modified according to the availability of clinical information. The use of availability heuristic (greater in the first wave) and statu quo heuristic is observed in three of the four vignettes studied, but not representativeness heuristic.</p><p><strong>Conclusions: </strong>The participating intensivists showed high variability and sensitivity to specific contextual factors. The use of statu quo and availability heuristics was observed under certain conditions. This analysis could help improve decision-making during health crises.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 1","pages":"e3162"},"PeriodicalIF":0.8,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147307668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global non-alcoholic fatty liver disease: analysis of the Global Burden of Disease Study (1990 to 2021).","authors":"Yong Liao, Yongli Song, Sanjin Zeng, Yongli Li, Chenggui Xu, Yinan Chen, Minjie Yin, Anhua Shi","doi":"10.5867/medwave.2026.01.3127","DOIUrl":"https://doi.org/10.5867/medwave.2026.01.3127","url":null,"abstract":"<p><p>Recent meta-analyses highlight the rising global incidence of non-alcoholic fatty liver disease, now the fastest-growing cause of liver-related mortality and a leading driver of end-stage liver disease. Previous estimates needed updated assessments of its epidemiological burden. Using Global Burden of Disease 2021 data, we analyzed age-standardized prevalence, incidence, and disability-adjusted life years for non-alcoholic fatty liver disease across 204 countries /regions from 1990 to 2021. Trends in disease burden were evaluated by sex, age, region, and Socio-Demographic Index. Between 1990 and 2021, non-alcoholic fatty liver disease incidence increased by 31.5% (466 to 613 cases/100 000 population), with new cases rising 94.5% (24.86 to 48.35 million). Prevalence surged 52% (10.58% to 16.07%), affecting 1.268 billion individuals (+124.8%). Disability-adjusted life years increased 46.7% (31.67 to 46.47 years/100 000 population), totaling 3.667 million (+117.2%). Middle-aged adults (30 to 60 years) accounted for 55% of cases, with female prevalence peaking at 35 to 44 years. Women ≥65 years had higher prevalence (18.2% vs 15.5% in men) and bore 30% of disability-adjusted life years. Men aged 15-60 had 40% higher prevalence due to smoking and high-fat diets. The Middle East, China, and Southeast Asia contributed over half of global cases, while high-income regions reported the highest disability-adjusted life years rates due to metabolic risks and aging. Hyperglycemia accounted for 38% of global disability-adjusted life years, and smoking contributed 28% in low/middle-income regions, declining from 22% to 15% in high Socio-Demographic Index nations. Targeted interventions such as metabolic risk reduction via diabetes control and diet in high-SDI nations, tobacco control and low-fat diets in low/middle-income regions, smoking & obesity counseling for men aged 15 to 60, menopause metabolic monitoring for women ≥65 are needed. Integrating non-alcoholic fatty liver disease into chronic disease programs, prioritizing exercise/diet strategies, and tailoring policies to regional Socio-Demographic Index are key to easing its burden.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 1","pages":"e3127"},"PeriodicalIF":0.8,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147290571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency of mesenteric panniculitis in an oncologic population: A multicenter comparative study with a control group.","authors":"David Ladrón de Guevara H, Emily Godoy L, Felipe Zumaeta V, Sofía Carrasco O, Melanie Dávila R, Gonzalo Briceño M, Yussef Cura C","doi":"10.5867/medwave.2026.01.3153","DOIUrl":"10.5867/medwave.2026.01.3153","url":null,"abstract":"<p><strong>Introduction: </strong>Mesenteric panniculitis is a rare benign entity that affects the mesentery, often detected incidentally in an imaging examination. Its association with cancer is a controversial topic. The objective of the study was to determine the frequency of this condition in a known oncological population and compare it with that of a control population.</p><p><strong>Methods: </strong>Cross-sectional, retrospective study, comparative with a control group. Patients referred for PET/CT (Positron Emission Tomography/Computed Tomography) staging for recently diagnosed cancer, who had not been treated and had no history of other previous cancer, were selected. This oncological group was separated according to type of cancer. The control group included patients referred for multiple traumatic injuries to undergo computed tomography that included the abdomen and pelvis. Control patients with a history of cancer were excluded. In both cases, the images were reviewed in search of mesenteric panniculitis.</p><p><strong>Results: </strong>Of the oncological group (1911 patients), 5.2% presented mesenteric panniculitis. The types of cancer with the highest frequency of mesenteric panniculitis were non-Hodgkin lymphoma (16.1%) and prostate cancer (12.8%), followed by multiple myeloma (6.9%), urothelial carcinoma (6.2%), cancer of the head and neck (5.3%) and pancreatic cancer (5.2%). Hodgkin lymphoma and cancers exclusive to women (breast, cervix, uterus, ovary) presented a low frequency of mesenteric panniculitis, similar to the control population. The frequency of mesenteric panniculitis in the control population (1056 individual) was 0.6%. The Odds Ratio of the oncological population vs. control for mesenteric panniculitis exposure was 9.6 (95% CI4.2249 to 22.1015, p < 0,0001).</p><p><strong>Conclusions: </strong>The frequency of mesenteric panniculitis depends on the type of cancer, and it is high in non-Hodgkin lymphoma and prostate cancer, but low and similar to that of the control population in other neoplasms.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 1","pages":"e3153"},"PeriodicalIF":0.8,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145989957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.","authors":"Elius Paz-Cruz, Patricia Guevara-Ramirez, Arianne Llamos Paneque, Emily Onofre, Christian Rivas Iglesias, Santiago Cadena-Ullauri, Rafael Tamayo-Trujillo, Viviana A Ruiz-Pozo, Daniel Simancas-Racines, Ana Karina Zambrano","doi":"10.5867/medwave.2026.01.3155","DOIUrl":"10.5867/medwave.2026.01.3155","url":null,"abstract":"<p><strong>Introduction: </strong>Neurofibromatosis type 1 (NF1) is a multisystemic genetic disorder caused by pathogenic variants in the 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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>Three distinct pathogenic 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. analyses predicted a pathogenic classification of all variants. Early pigmentary signs, present in all cases, served as key diagnostic indicators.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":18597,"journal":{"name":"Medwave","volume":"26 1","pages":"e3155"},"PeriodicalIF":0.8,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145985119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}