https://hdl.handle.net/11000/467 2026-04-05T13:53:20Z https://hdl.handle.net/11000/39260 Título : Hiperinsulinismo congénito en tres pacientes de la misma familia. Ampliando el genotipo de esta enfermedad Autor : Herrera Azabache, Katia; Muñoz Bermúdez, Zoraya; Ferrández Mengual, David; Nso-Roca, Ana Pilar 2026-02-13T08:23:54Z https://hdl.handle.net/11000/38932 Título : Klinefelter syndrome in childhood language delay as an early warning sign for diagnosis Autor : Nso-Roca, Ana Pilar; Carratalá, Francisco; Andreo, Patricia; Aguirre Balsalobre, Fernando Resumen : Klinefelter syndrome (KS), the most common sex chromosome aneuploidy in males, is often underdiagnosed until adolescence, delaying early intervention. We describe 11 pediatric patients with KS who were followed between 2005 and 2025 to identify early markers. Three were diagnosed prenatally; the remaining eight were diagnosed at a median age of 6.1 years, mainly due to neurodevelopmental problems. Of the total of 11 patients, 9 had delayed language acquisition, followed by 8 with psychomotor delay, 5 with behavioral disorders, 3 with sleep disorders, and 2 with epilepsy. Endocrinological comorbidities were less frequent in childhood. Delayed language development emerges as a crucial early indicator. Active detection, along with other neurodevelopmental comorbidities, is essential to address underdiagnosis and enable early, multidisciplinary intervention, thereby significantly improving patients' developmental outcomes and quality of life in KS. 2026-01-19T17:21:45Z https://hdl.handle.net/11000/38904 Título : Inteligencia artificial en la interacción sexo/ género para una analgesia personalizada en el dolor crónico Autor : Peiro, Ana; Noelia, Serrano-Gadea; Allouti, Hichem; Zorrilla-Muñoz, Vanesa; Bernal Salcedo, Joshua; de la Iglesia, María Resumen : La interacción entre sexo y género desempeña un papel clave en la percepción y el tratamiento del dolor crónico. A los factores biológicos (como las variaciones en los genes relacionados con la metabolización de analgésicos, OPRM1 y CYP2D6 y la influencia de las hormonas sexuales), se suman factores socioculturales asociados a las normas y roles de género. Estos pueden impactar en la equidad en el acceso a tratamientos y a la interpretación del dolor por parte de los profesionales sanitarios. Además, pueden modificar la selección de medicamentos y el riesgo de efectos adversos, sobre todo en mujeres. Comprender la interacción entre sexo y género en la medicina del dolor es esencial para desarrollar estrategias terapéuticas más personalizadas. En este campo, la inteligencia artificial y el procesamiento del lenguaje natural podrían ayudarnos a prevenir este tipo de sesgos mediante el análisis de registros médicos y testimonios de pacientes, identificando patrones de tratamiento diferenciados por sexo, comprendiendo mejor las experiencias de lo/as pacientes y evidenciando desigualdades existentes, hoy en día, en la medicina del dolor.; The interaction between sex and gender plays a key role in the perception and treatment of chronic pain. In addition to biological factors (such as variations in genes related to the metabolism of analgesics, including OPRM1 and CYP2D6, and the influence of sex hormones), sociocultural factors associated with gender norms and roles also contribute significantly. These factors can impact equity in access to treatments and the interpretation of pain by healthcare professionals. Moreover, they can influence medication selection and the risk of adverse effects, particularly in women. Understanding the interaction between sex and gender in pain medicine is essential for developing more personalized therapeutic strategies. In this field, artificial intelligence and natural language processing could help prevent such biases by analyzing medical records and patient testimonies, identifying sex-based treatment patterns, gaining deeper insight into patient experiences, and highlighting existing inequalities in pain medicine today. 2026-01-16T13:50:47Z https://hdl.handle.net/11000/38903 Título : Predictive modelling links exercise dependence to associated psychological and behavioral risk factors Autor : Zandonai, Thomas; Bertamini, Giulio; Lozano, Juan José; Mallia, Luca; De Maria, Alessandra; GALLI, FEDERICA; Monteagudo, Pablo; Lucidi, Fabio; Venuti, Paola; Furlanello, Cesare; Peiro, Ana Resumen : Exercise Dependence (ED) refers to uncontrollable, excessive exercise with harmful effects on life. This study used machine learning to identify behavioral and psychological factors contributing to ED risk. A multi-step procedure was implemented for model construction and validation, utilizing controlled feature selection and bootstrapping. Data were collected over three time points in diverse contexts (GR2021-22-23), recruiting 1099 participants (707 males, 64.3 %; 392 females, 35.7 %) with an average age of 24.8 ± 7.8 years. Based on the Exercise Dependence Scale-Revised (EDS-R), 5.6 % (n = 62) were classified as "At Risk" of ED, 50.9 % (n = 559) as "Non-Dependent-Symptomatic," and 43.5 % (n = 478) as "Non-Dependent-Asymptomatic." The final model predicted the GR2023 dataset with MAE = 6.90, R2 = 0.59, and RE = 9.08 %. Predictive performance on the GR2022 dataset was MAE = 5.65, R2 = 0.79, and RE = 6.73 %, while performance on the GR2021 dataset achieved MAE = 7.60, R2 = 0.58, and RE = 7.24 %. Perfectionism consistently emerged as the most important predictors, followed by Drive for Thinness, Drive for Muscularity, and sport characteristics. Result generalization was confirmed by a complementary, whole-data analysis. This study establishes a foundation for developing quantitative risk profiles for ED by analyzing multidimensional constructs and their contributions through interpretable machine learning. The methodology offers insights into how personality, psychological, and behavioral dimensions shape risk attitudes and provides robust predictive tools for assessing ED risk in sports contexts. 2026-01-16T13:50:09Z https://hdl.handle.net/11000/38887 Título : Sleep-Wake Cycle and Circadian Misalignment in People With Autism Across the Lifespan With an Emphasis on Living Conditions Autor : Martinez-Cayuelas, Elena; García Muñoz, Ana María; Sánchez de Ocaña Moreno, Maria Luisa; Richdale, Amanda L.; Gisbert Gustemps, Laura; Lugo Marín, Jorge; Rodriguez Morillas, Beatriz; Peiro, Ana; Victoria-Montesinos, Desirée; LOPEZ ANGUAS, CRISTINA; Meseguer Illán, María Dolores; Ballester, Pura Resumen : Sleep problems among individuals with autism spectrum disorder (ASD) are a persistent issue that spans from early childhood to adulthood. The present study aimed to objectively investigate sleep continuity and alignment using ambulatory circadian monitoring (ACM) in a group of autistic individuals, with and without intellectual disabilities. We studied 214 participants. Sleep continuity and alignment were assessed using a minimum of 3 days of ACM. Participants were divided into four groups: (1) age < 10 years (n = 40, 87.5% males, M = 6.78 ± 1.40 years), (2) age 10-17 years (n = 53, 90.6% males, M = 12.62 ± 2.04 years), (3) age 18-27 years (n = 59, 74.6% males, M = 23.50 ± 2.60 years), and (4) age 28-65 years (n = 62, 74.2% males, M = 39.04 ± 9.49 years). All groups had significantly impaired sleep outcomes, except for TST. Adults had longer SOL and WASO duration, than children and adolescents. However, those differences were attenuated if participants 'percentages of sleep parameters within normal range' were compared. When evaluating circadian misalignment, sleep M5 is delayed in children and adolescents (2:56 am and 3:00 am, respectively), and strongly advanced in the older adults (group 4). Sleep problems that manifest in autism during childhood can endure throughout adulthood. Furthermore, there is a necessity to investigate how living conditions, such as enforced schedules in residential facilities, can influence the timing of the sleep midpoint. 2026-01-15T10:54:56Z https://hdl.handle.net/11000/38886 Título : The Effect of Physical Exercise on Non-Oncological Musculoskeletal Chronic Pain and Its Associated Biomarkers: Systematic Review on Randomized Controlled Trials Autor : Castillo-Bellot, Israel; Peiro, Ana; Zandonai, Thomas Resumen : Objective: Non-oncological musculoskeletal chronic pain has a high prevalence and is a cause of disability, reduced quality of life, and significant economic impact. Physical exercise is presented as a treatment option; however, pain measurement remains a challenge, and various biomarkers are potential candidates to objectify this process. This systematic review aims to study the effect of physical exercise on non-oncological musculoskeletal chronic pain and its associated biomarkers based on randomized controlled trials. Methods: A search for randomized controlled trials was conducted in the PubMed, Web of Science, and Scopus databases based on the established inclusion and exclusion criteria, along with a risk of bias assessment following the recommendations of the Cochrane Collaboration. Results: Five studies investigated various physical exercise interventions and their effects on biomarkers linked to chronic pain. Exercise consistently reduced self-reported pain, though no clear overall correlation with biomarker changes was found. However, significant associations emerged for specific biomarkers, particularly inflammatory markers and those identified through structural and functional brain imaging, suggesting potential mechanisms underlying pain modulation. Conclusions: The findings suggest that identifying chronic pain variations through biomarkers requires selecting markers linked to immune activity or brain processes. More randomized controlled trials with sufficient sample sizes and rigorous methodologies are needed. Despite this, physical exercise remains a valuable intervention for managing non-oncological musculoskeletal chronic pain. Additionally, it holds potential as a tool for uncovering novel biomarkers that may contribute to the objectification and understanding of chronic pain mechanisms. 2026-01-15T10:53:03Z https://hdl.handle.net/11000/38885 Título : The silence of opioids-dependent chronic pain patients: A text mining analysis from sex and gender perspective Autor : Carratalá, Claudia; Agulló, Laura; CARRACEDO, PATRICIA; Serrano Gadea, Noelia; Escorial, Mónica; López Mañogil, Elena; Miró, Pau; Bernardes, Sónia F.; Peiro, Ana Resumen : Existing evidence indicates sex-related differences in Prescription Opioid Use Disorder (OUD) in Chronic Non-Cancer Pain (CNCP). However to date, there is scant evidence for other socioeconomic factors in these differences. Our aim was to enquire about the influence of gender and drug copayment of OUD narratives by the text mining analysis. A prospective mixed-methods study was designed and performed at Pain Unit (PU) including 238 real world patients with CNCP divided in controls (n = 206) and OUD cases (n = 32) due to DSM-5 diagnosis Variables related to pain, sleep, mental and health status were collected in together with sex and gender interaction, in pain status, along 30-45 min face-to-face interviews. Sex differences were observed due to women's significantly older ages, with a stronger impact on mental health, and an even stronger one for the OUD women. Globally, OUD cases were more unemployed vs the CNCP controls, and on a significantly higher median opioid daily dose of 90 [100] mg/day. Although OUD participants did more social activities, they tended to use less vocabulary to express themselves regardless of their sex, gender role or economic status. In contrast, the CNCP participants presented more differences driven by their incomes, with "limited" being the most discriminating word for those on low income, followed by "less" and "help". Here, the most significant word of CNCP women was "husband", followed by "tasks". In contrast, gender reproductive roles shared similarities in both sexes, being one of the most discriminatory words "help". The data show that OUD patients seem to have a marked influence of OUD on poorer lexicon and simpler narrative, together with a significant impact of socioeconomic factors on the CNCP narratives. The conclusion suggests to extend the research to better understand the effect of sex, gender and socioeconomic status in CNCP especially on OUD women's health. 2026-01-15T10:52:28Z https://hdl.handle.net/11000/38884 Título : Using a Two-Steps Clustering and PCA Analysis for Stratified Chronic Non-Cancer Pain Care: A Retrospective Cross-Sectional Study Autor : Peiro, Ana; Barrachina, Jordi; Escorial, Mónica; Aguado, Isidro; Margarit, César; Grimby-Ekman, Anna Resumen : Purpose: Given the number of people who suffer from chronic pain and the impact on healthcare resources, it is imperative that the people with pain receive an appropriate matched treatment due and stratified care. The aim of this study was to characterize chronic non-cancer pain (CNCP) patients' states, through an unsupervised cluster analysis, to implement clinical recommendations in pain care. Patients and methods: Real-world ambulatory CNCP cohort of patients (n = 418) completed a multidimensional patient-reported registry, as part of a routine initial evaluation, in a multidisciplinary academic pain unit. A clustering analysis was performed according to: 1) pain intensity and relief; 2) quality of life; 3) number of adverse events; and 4) emergency department visits. A retrospective study was developed (n = 120) following the stratified analysis. Results: From a principal component analysis, cut-off points were defined to discriminate between the six clusters and three groups of different pain intervention requirements. Those patients showed a significantly different monitoring and basal clinical status. Being older than 65 years old, retired or on medical leave, under opioids and anxiolytic prescription, had a severe impact on daily quality of life without any sex-difference. Conclusion: These clusters based on real-world clinical information might be useful for screening even more where the access to physical exploration is limited. Follow-up analyses will support the replicability of this stratified care. 2026-01-15T10:51:45Z https://hdl.handle.net/11000/38883 Título : Gender-Pain Questionnaire: Internal Validation of a Scale for Assessing the Influence of Chronic Pain Experience on Gender Identity and Roles Autor : Peiro, Ana; Noelia, Serrano-Gadea; García-Torres, Daniel; Ruiz-Cantero, María Teresa; Pérez-Jover, Virtudes Resumen : Background/Objectives: Gender (roles as household load and job strain, and identity) represent an effect modifier of the interference between pain experience and sex because it is different between men and women. This study validates a new scale developed to assess how life functioning is impacted by Chronic Non-Cancer Pain (CNCP) due to gender. Methods: A total of 193 Spanish ambulatory CNCP patients (60 [51–73] years old, 69.4% women, 31% retired) were interviewed. Exploratory Factor Analysis (EFA) yielded 3-factor structure: Gender Self-identity, Roles, and Chronic Pain Impact on Social, Familial, Work and Sexual Life. Results: The Gender-Pain Questionnaire, with the presented factor structure, is an evaluation instrument with enough reliability and internal validity for CNCP patients. Conclusions: This study presents the psychometric properties of a scale for assessing the interference of CNCP patients’ experience on gender and how it affects their daily life activities, relationships and self-identity. It represents the first original questionnaire known in Spanish language to date. This measure could potentially help researchers and clinicians to obtain gender key information to design appropriate and equity healthcare interventions. 2026-01-15T10:50:51Z https://hdl.handle.net/11000/38882 Título : Predictive Model for Opioid Use Disorder in Chronic Pain: A Development and Validation Study Autor : Escorial, Mónica; Muriel, Javier; Margarit-Ferri, Cesar; Agulló, Laura; Zandonai, Thomas; Panadero, Ana; Morales, Domingo; Peiro, Ana Resumen : Background/objective: There are several questionnaires for the challenge of anticipating opioid use disorder (OUD). However, many are not specific for chronic non-cancer pain (CNCP) or have been developed in the American population, whose sociodemographic factors are very different from the Spanish population, leading to scarce translation into clinical practice. Thus, the aim of this study is to prospectively validate a predictive model for OUD in Spanish patients under long-term opioids. Methods: An innovative two-stage predictive model was developed from retrospective (n = 129) and non-overlapping prospective (n = 100) cohorts of real-world CNCP outpatients. All subjects used prescribed opioids for 6 or more months. Sociodemographic, clinical and pharmacological covariates were registered. Mu-opioid receptor 1 (OPRM1, A118G, rs1799971) and catechol-O-methyltransferase (COMT, G472A, rs4680) genetic variants plus cytochrome P450 2D6 (CYP2D6) liver enzyme phenotypes were also analyzed. The model performance and diagnostic accuracy were calculated. Results: The two-stage model comprised risk factors related to OUD (younger age, work disability and high daily opioid dose) and provided new useful information about other risk factors (low quality of life, OPRM-G allele and CYP2D6 extreme phenotypes). The validation showed a satisfactory accuracy (70% specificity and 75% sensitivity) for our predictive model with acceptable discrimination and goodness of fit. Conclusions: Our study presents the results of an innovative model for predicting OUD in our setting. After external validation, it could represent a change in the paradigm of opioid treatment, helping clinicians to better identify and manage the risks and reduce the side effects and complications. 2026-01-15T10:50:18Z