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Risk and impact of stroke across 38 countries and territories of the Americas from 1990 to 2021: a population-based trends analysis from the Global Burden of Disease Study 2021
(2025) Martinez, Ramón; Munoz Venturelli, Paula; Ordunez, Pero; Fregni, Felipe; Abanto, Carlos; Alet, Matias; Alvarez, Tony; Amaya, Pablo; Ameriso, Sebastian; Arauz, Antonio; Barboza, Miguel; Bayona, Hernán; Ortiz, Antonio; Calleja, Juan; Cano, Vanessa; Carbonera, Leonardo; Carrillo, Rodrigo; Corredor, Angel; De Souza, Ana; Jimenez, Claudio; Lanas, Fernando; Martins, Sheila; Navia, Víctor; Novarro, Nelson; Olavarría, Verónica V.; Ovbiagele, Bruce; Pachecho, Kevin; Pontes, Octavio; Pujol, Virginia; Rabinstein, Alejandro; Rosales, Julieta; Rosende, Andrés; Sampaio, Gisele; Saposnik, Gustavo; Sen, Souvik; Testai, Fernando; Urrutia, Victor; Anderson, Craig; Lavados, Pablo
Background: Despite substantial declines in burden over time, stroke remains a public health threat in the Americas. This study aimed to assess the current magnitude, trends, and disparities in the estimates of stroke burden by sex and age in the Americas from 1990 to 2021.
Methods: Estimates from the Global Burden of Disease, Injuries and Risk Factors Study 2021 were used to analyze incidence, prevalence, mortality, years of life lost due to premature death, years lived with disabilities, and disability-adjusted life years (DALYs) caused by stroke and its major subtypes stratified by age, and sex in the Americas from 1990 to 2021. We used Joinpoint regression analysis to estimate the average annual percent change (AAPC) of stroke mortality and disease burden outcomes and assessed trends.
Findings: In 2021, there were 1.1 million (95% uncertainty interval: 1.0-1.2) new cases, 12.9 million (12.3-13.7) prevalent cases, 0.5 million (0.5-0.6) deaths, and 11.4 million (10.6-12.1) DALYs due to stroke in the Americas. The absolute number of stroke burden outcomes increased from 1990 to 2021, but their corresponding age-standardized rates significantly declined. A deceleration in reduction rates of burden outcomes for all strokes and most stroke subtypes occurred over the last decade, with pronounced difference between sexes mainly in incidence among younger groups. From 2015 to 2021, trends in incidence rates from all stroke and stroke subtypes reversed to increase in most age groups, and strikingly, trends in mortality and DALY rates from ischemic stroke among younger populations reversed to upward with AAPC over 1.4%. A substantial number of countries contributed to these increasing trends.
Interpretation: Regionally, the annual number of stroke cases and deaths significantly increased from 1990 to 2021, despite reductions in age-standardized rates. The declining pace in age-standardized stroke rates has decelerated in recent years, while trends in incidence, and ischemic stroke mortality and DALY among middle-aged adults and adults, reversed towards upward in the period 2015-2021. Further studies are needed to understand the determinants of this recent pattern and identify the most cost-effective interventions to stem this alarming trend.
Funding: There was no funding source for this study.
Exploring Lumbar Spine Posture and Movement in Sitting: A Comparison Between Laboratory and Real-World Measures
(2025) Abdullah Alshehri, Mansour; Riddick, Ryan; Besomi, Manuela; Hoorn, Wolbert van den; Klyne, David M.; Hodges, Paul W.
Background/Objectives: Sitting is linked to health problems, including back pain. Sitting posture is commonly measured in the laboratory, but it remains unclear how this relates to real-world spine posture. Methods: A cross-sectional study of pain-free adults conducted measurements in “laboratory” and “real-world” settings. Wearable motion sensors recorded lumbar spine angular orientation to compare lumbar spine flexion angle during sitting postures in between settings. Gaussian mixture models defined participant-specific modes and overall probability distributions of real-world sitting posture. Measures included periods of real-world sedentary/activity behaviours and trunk postural control (laboratory). Results: Laboratory measures of lumbar angle were more flexed during
questionnaire (30.0◦) than upright (19.8◦) sitting. The angle in unstable sitting was intermediate (27.1◦). Spine posture in unstable sitting correlated with real-world overall mean posture (r = 0.49–0.54) and most frequent mode (r = 0.47). Upright laboratory sitting posture correlated with real-world second most frequent mode (r = 0.54). Sitting less (r = 0.45) and walking more (r = 0.41) in the real world related to better balance performance and lumbar spine coordination. Conclusions: Spine posture in an unstable sitting laboratory task had the closest association with real-world sitting but does not replicate the diversity of spine postures adopted in real-world sitting. Wearable sensors are viable to study real-world postures.
Molecular and clinical registry of Chilean patients diagnosed with BRAF-mutated colorectal cancer
(2025) García-Bloj, Benjamín; Mayo Glaser, Tomás de; Sigler Chávez, Fernando; Muñoz-Medel, Matías; Cueto, Nicolás; Pinto, Felipe; Aravena, Paola; Retamal, Ignacio N.; Gómez-Valenzuela, Fernán; Silva, Ian; Garrido, Javiera; Corvalán, Ignacio; Avendaño, María E.; San Martin Abello, Cristopher; Sabioncello, Andrea C.; Garrido Villanueva, Marcelo; Erpel, José M.; Henríquez, Jenny F.; Godoy, Juan A.; Garrido, Marcelo
Background: In recent years, the epidemiological trend of colorectal cancer (CRC) in Chile has become increasingly concerning, particularly due to the high costs associated with managing advanced-stage disease, which places a significant strain on the national healthcare system. In 2012, 2,417 new CRC cases were reported across both sexes in Chile. However, current projections estimate a sharp rise to 5,914 new cases, corresponding to an incidence rate of 20.7 per 100,000 individuals. This study aims to register the presence of BRAF mutations in Chilean patients to better characterize the molecular epidemiology of CRC in the local population. BRAF mutations are associated with poor prognosis, with affected patients typically exhibiting a median overall survival (OS) of less than 12 months.
Methods: We present a cohort study that included 23 Chilean patients newly diagnosed with CRC and recruited up to April 1, 2024. Patients with a history of another malignant neoplasm diagnosed within the previous three years were excluded. BRAF mutations were analyzed in all participants treated within the public and private healthcare systems in Santiago, Chile.
Results: Despite the rising prevalence of CRC in Chile, the frequency and distribution of BRAF mutations in the local population are unknown. Median OS differed by sex, with female patients showing a shorter OS of 24 months compared to 75 months in male patients (P=0.16). When stratified by stage at diagnosis, patients with stage II–III disease demonstrated a markedly longer median OS of 134 months, whereas those with stage IV disease had a median OS of only 24 months (P=0.12; not significant).
Conclusions: Establishing comprehensive records of the most prevalent BRAF mutations in Chilean patients with CRC is essential for advancing precision oncology research. This knowledge has the potential to transform clinical management strategies and enhance treatment outcomes and the quality of life of patients. Consequently, an accurate assessment of BRAF gene mutations tailored to the molecular and clinical characteristics of each patient is crucial for optimizing treatment outcomes.
Good Treatment by Teachers as Perceived by Medical Students in Chile: A Survey-Based Study
(2025) Vicencio-Clarke, Scarlett; Armijo-Rivera, Soledad; Pérez- Villalobos, Cristhian; Bastías-Vega, Nancy; Ortega-Bastidas, Javiera; Schilling- Norman, Mary Jane; Hechenleittner-Carvallo, Marcela; Soto-Faúndes, Catherine; Williams-Oyarce, Carolina; Peralta-Camposano, José; Ríos-Teillier, María Isabel
The perception of academic mistreatment among medical students is associated with burnout, emotional disorders, and poorer professional performance. Conversely, a positive environment that promotes respectful teaching can enhance empathy, reduce burnout, and increase student satisfaction. This study examines perceptions of respectful teaching and its associations with demographic and academic characteristics among medical students in Chile.
Aim:
To evaluate perceptions of respectful teaching among medical students in Chile and their relationship with sociodemographic, academic, and personal satisfaction factors.
Methods:
A cross-sectional study was conducted across six Chilean universities, involving 443 medical students. We used the Good Teaching Practices Questionnaire (40 items in 9 dimensions) and tools for sociodemographic characterization and academic satisfaction. Data were analyzed using descriptive statistics, reliability coefficients, Spearman correlations, and ANOVA, with significance set at p<0.05.
Results:
Younger students, those in earlier years, or those recently admitted reported better perceptions of respectful teaching (p<0.05). Men perceived greater support in flexible planning, feedback, and concern for students (p<0.01). Theoretical and synchronous courses were associated with better perceptions of class agility and teaching passion (p<0.001). The highest-rated dimension was subject mastery (Md= 4.00), while concern for students received the lowest score (Md= 3.00).
Conclusion:
Higher life satisfaction and work-life balance levels are related to respectful teaching. Differences between universities and demographic groups highlight the need for inclusive institutional policies and faculty training to foster equitable and empathetic environments in medical education.
A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions
(2025) Klausegger, Alfred; Leditzky, Fabian; Krämer, Susanne; Palisson, Francis; Yubero, María; Véliz, Sebastián; Koh, Mark; Tan, Ene-Choo; Laimer, Martin; Wolfgang, Johann; Fuentes, Ignacia
Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the FERMT1 (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants. Large deletion variants have been reported in nine cases to date. Most variants are predicted to lead to premature termination of translation and to loss of kindlin-1 function. In this study, we report on a 33-year-old male patient who presented with typical clinical manifestations of KEB. As routine molecular testing failed to obtain a diagnosis, Next Generation Sequencing (NGS) of an Epidermolysis Bullosa (EB)-specific panel was carried out followed by the determination of the deletion breakpoints and verification at the mRNA and protein levels. This approach revealed a new large homozygous deletion of ~9.4 kb in the FERMT1 gene involving exons 7 to 9. Finally, we performed a literature review on large FERMT1 deletions. The deletion is predicted to skip exons 7 to 9 within the mRNA, which results in a frameshift. The patient's phenotype is likely caused by the resulting truncated and non-functioning protein. Our report further enriches the spectrum of FERMT1 gene variants to improve genotype-phenotype correlations.
Cryopreserved Total Skin Allografts From Living Donors for Complex Wound Management: A New Paradigm in Regenerative Wound Care
(2025) Fonseca, Marcelo; Cañete, Aldo; Mandriaza, Luana; Gómez, Jennifer; Masiá, Jaume; Marcelain, Katherine; Ibaceta, Dino; Erazo, Cristian; Gámez, Brenda; Rius, Montserrat; Disi, Florencia
Skin allografts are essential in managing complex wounds, yet their availability is limited by low post-mortem donation rates.
Skin harvested during body contouring surgeries offers a novel and sustainable source to expand tissue supply. We conducted
a retrospective descriptive study at the Tarapacá Skin and Tissue Bank from January 2022 to December 2024. All donations
from body contouring surgeries were processed as cryopreserved total skin allografts following national tissue banking stand-
ards. Variables included donor demographics, harvested area, units produced, microbiological results, and discard rates. To
describe clinical performance, we present our group's initial clinical series of treated patients. From 248 living donors (mean age
41.3 years), 81 293 cm2 of skin generated 2050 units. The discard rate was 27%, mainly due to a storage failure and isolated micro-
bial contamination. Clinically, all patients achieved complete initial graft take, followed by gradual necrotic eschar formation at
an average of 21 days. Eschar removal revealed vital tissue firmly adhered to the recipient bed, rich in fibroblasts and neovascu-
lar structures. Subsequent management included either escharectomy with split-thickness autografting over the neodermis, or
spontaneous eschar lysis and skin regeneration, with the graft functioning as a dermal regenerator. This model increases tissue
availability while providing allografts with both coverage and dermal regenerative properties.
Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa
(2025) Besa, Colomba; Ortega, Ana; Véliz, Sebastián; Cornejo, Marco; Fuentes, Ignacia; Palisson, Francis; Krämer, Susanne
Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.
Objective: To determine the prevalence of ECR in patients with JEB.
Methods: A longitudinal retrospective cohort study was performed at the Special Care Dentistry Clinic, University of Chile. Clinical records of patients with JEB between 2005 and 2024 were analysed. Prevalence of ECR per patient, per type of tooth and per tooth was calculated.
Results: Of the 20 patients examined, 90% presented ECR in at least one tooth, with an average of 4.8 primary and 6.8 permanent teeth affected. The most affected type of teeth were the incisors. 57.5% of primary incisors and 68% of permanent incisors had resorption. The most affected tooth was #82 in primary dentition (75%) and #32 in the permanent dentition (88.9%).
Conclusions: The prevalence of ECR in patients with AI due to JEB caused by variants in LAMB3 was 90%. Establishing clinical and radiographic dental protocols for the early detection of ECR is essential to prevent extensive tooth destruction.
Additive Value of EBUS-TBNA for Staging Non-Small Cell Lung Cancer in Patients Evaluated for Stereotactic Body Radiation Therapy
(2025) Boster, Joshua M.; Goertzen, S. Michael; Sainz, Paula V.; Rodríguez Vial, Macarena; Zaveri-Desai, Jhankruti K.; Luna, Luis D.; Grosu, Horiana B.; Waqar, Anum; Casal, Roberto F.; Jimenez, Carlos A.; Ost, David E.; Sabath, Bruce F.; Lin, Julie; Hernandez, Mike; Eapen, Georgie A.
Background/Objectives: Patients with non-small cell lung cancer (NSCLC) being evaluated for stereotactic body radiation therapy (SBRT) are frequently staged non-invasively with positron emission tomography/computed tomography (PET/CT). Performing endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in addition to PET/CT scanning may increase clinical certainty in lymph node staging, but the magnitude of added benefit of EBUS-TBNA over non-invasive staging methods is unclear. Methods: A single-center prospective cohort study involving patients with suspected or confirmed Stage I or IIa NSCLC referred for EBUS-TBNA prior to SBRT was performed. The primary outcome was concordance between PET/CT and EBUS-TBNA for nodal metastases. Secondary endpoints included sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of PET/CT, and clinical outcomes based on staging results. Results: Among 115 patients, the concordance between PET/CT and EBUS-TBNA was 84.3% (95% CI: 0.76 0.90). EBUS-TBNA led to a stage shift in 15.7% of cases: 4 of 98 PET/CT N0 patients (4.1%) had nodal metastases, while 14 of 17 PET/CT N1 patients (82.4%) were downstaged to N0. PET/CT sensitivity was 42.9% (95% CI: 0.09–0.81), specificity 87% (95% CI: 0.79–0.93), PPV 17.6% (95% CI: 0.04–0.43), and NPV 95.9% (95% CI: 0.90–0.99). PET/CT-positive, EBUS-TBNA-negative patients had worse survival (HR 4.25, 95% CI: 1.24–14.53, p = 0.021) compared with double-negative patients. Conclusions: EBUS-TBNA improves staging accuracy over PET/CT in early-stage NSCLC, impacting SBRT candidacy. However, PET/CT-positive, EBUS-TBNA-negative patients had worse outcomes in comparison to double-negative patients, suggesting a need for additional therapy or surveillance in that population.
Osteoporosis secundaria
(2026) Trejo, Pamela; Martínez, Carolina
La osteoporosis secundaria es una condición que surge como consecuencia de enfermedades subyacentes o tratamientos médicos que afectan el metabolismo óseo, a diferencia de la osteoporosis primaria, que se asocia con la pérdida de masa ósea relacionada a la menopausia y la edad. Su presentación clínica es diferente, ya que puede manifestarse en pacientes más jóvenes y, en algunos casos, asociarse con una pérdida ósea más severa, aumentando la prevalencia de fracturas por fragilidad.
Identificar las causas secundarias es crucial, ya que impacta directamente en las estrategias terapéuticas y en la evaluación del riesgo de fractura. Su reconocimiento oportuno es fundamental para realizar una evaluación adecuada, individualizar el tratamiento según la etiología subyacente y las necesidades del paciente, y así prevenir fracturas por fragilidad.
Esta revisión tiene como objetivo destacar cuándo sospechar osteoporosis secundaria, cómo estudiarla y proporcionar herramientas para su adecuado abordaje clínico.
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa
(2025) Pironon, Nathalie; Gasparyan, Artyom; Yubero, María; Duchatelet, Sabine; Hovhannesyan, Kristina; Leclerc-Mercier, Stephanie; Kostandyan, Natella; Palisson, Francis; Sarkisian, Tamara; Titeux, Matthias; Fuentes, Ignacia; Hovnanian, Alain
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions. We describe 6 patients with localized or intermediate RDEB for whom one recessive pathogenic variant in the coding region and a second variant in the COL7A1 promoter were identified. These substitutions, three of which are novel, are localized in two Sp1 binding sites of the promoter region. DNA pull-down assay showed a drastic reduction of Sp1 binding consistent with a dramatic decrease in COL7A1 transcript and almost undetectable C7 protein levels. Our results reveal that mutations in the COL7A1 promoter on the background of a null allele can underlie localized or intermediate RDEB. They further emphasize the functional importance of Sp1 motifs in the proximal COL7A1 promoter which should be carefully investigated for regulatory mutations in the case of RDEB with only one pathogenic variant identified in the coding or intronic regions.
Association Between Hearing Aid Use and Physical Activity Levels in Older Adults with Hearing Loss
(2026) Ramos-Rojas, José; Valdivia, Gonzalo; Terán-Tapia, Dominique; Marcotti, Anthony; Fuentes-López, Eduardo
Background/Objectives: Few studies have examined the relationship between hearing aid use and physical activity levels, yielding inconsistent results. The aim of this study was to determine the possible association between hearing aid use and physical activity levels in a representative sample of older adults with hearing loss and a clinical indication for hearing aid use in Chile. Methods: We conducted a cross-sectional analysis of data from a nationally representative health survey employing geographically stratified, multistage probability sampling. Participants were aged ≥60, had medical indication for hearing aid use, demonstrated normal cognitive function, and reported no motor disability. Physical activity was assessed using the Global Physical Activity Questionnaire (GPAQ). We also collected data on self-perceived hearing status, specialist recommendations for hearing aid use, and adherence among device owners. Multivariate ordinal regression models evaluated the association between hearing aid use and physical activity, accounting for the survey’s complex sampling design. Results: The sample comprised 356 individuals, representing 599,912 older adults after applying survey weights. Overall, 50.5% reported owning a hearing aid; of these, 46.8% always used their device, and 19.1% never used it. Compared with consistent users, participants who used their hearing aid “sometimes” or “rarely” had significantly lower odds of higher physical activity levels (OR = 0.13; 95% CI: 0.02–0.85; p = 0.03 and OR = 0.13; 95% CI: 0.02–0.96; p = 0.04, respectively). Those who never used their hearing aid had 86% lower odds of higher physical activity (OR = 0.16; 95% CI: 0.03–0.94; p = 0.04). Conclusions: Consistent hearing aid use was associated with higher physical activity levels in older adults with hearing loss. These findings support the integration of hearing rehabilitation into broader strategies for promoting healthy aging.
Echoes of maternal childhood maltreatment: The role of a maternal genetic marker in mother-infant coregulation
(Universidad del Desarrollo. Facultad de Psicología, 2026) Espinoza Barría, Mauricio Fernando; Silva, Jaime
Childhood maltreatment has enduring consequences for neurobiological, socioemotional, and relational development, with effects that can extend into the
next generation. Guided by a gene × environment framework, this dissertation examines how maternal histories of childhood maltreatment relate to motherinfant coregulation at behavioral and physiological levels during the first year of life, and whether these associations are moderated by maternal FKBP5 genetic variation. In Study 1, conducted with Chilean dyads, the FKBP5 rs1360780 polymorphism moderated the association between maternal childhood
maltreatment and behavioral mother-infant coregulation in a pattern consistent with differential susceptibility, even though no direct effects were observed. In
Study 2, no evidence of effects on physiological coregulation emerged. Study 3, conducted with a U.S. sample, further demonstrated that behavioral coregulation at four months mediated the association between maternal childhood maltreatment and early-emerging psychopathology at ages two to three years.
Together, these studies demonstrate the impact of maternal maltreatment on early behavioral coregulation, highlight the moderating role of FKBP5, and
position behavioral coregulation as a key mechanism linking maternal early experiences to early-emerging socioemotional difficulties. These findings offer
insight into intergenerational pathways of stress regulation and inform efforts to promote early relational health.
Incidence of all-cause mortality in prisons: research protocol for a global registry study and systematic literature review with meta-regression analyses
(2025) Mundt, Adrian; Rozas, Enzo; Asencio, Benjamín; Morales, Antonio; Cifuentes, Pablo; Alvarado, Sofia; Baranyi, Gergő; Borschmann, Rohan; Faze, Seena; Kinne, Stuart
Introduction: People in prison experience disproportionate health burdens compared with community-based populations, including elevated rates of infectious and non-communicable diseases, mental illness and substance use disorders. Previous studies have consistently shown increased rates of mortality following release from incarceration, particularly from external (unnatural) causes such as suicide and violence. However, evidence on mortality incidence during imprisonment is scarce, and many deaths may be preventable through targeted health and prevention interventions. This study aims to synthesise worldwide evidence on all-cause mortality incidence in prisons.
Methods and analysis: We will conduct a worldwide registry study combined with a systematic literature review and meta-regression analysis. Eligible sources will report deaths among incarcerated people between 2005 and 2025 at the national or, where more appropriate, the subnational jurisdictional level. Mortality data will be retrieved from official reports of prison administrations and direct contact with prison authorities. Also, data from international databases and the scientific literature will be reviewed. Incidence rates of all-cause mortality per 100 000 person-years will be calculated and reported for each jurisdiction, alongside standardised mortality ratios comparing imprisoned populations with general population estimates.
Ethics and dissemination: Since the study relies on anonymised routine data registries available from different sources, an exemption certificate was granted by the Ethics Committee of Diego Portales University (UDP) in Santiago, Chile. Findings will be submitted for publication in a peer-reviewed academic journal.
A germline variant of ring finger protein 43 in an early onset, treatment-resistant metastatic gastric cancer: a case report
(2025) García-Bloj, Benjamín; Celis, Santiago Farah; Orellana, Natalia Eva; Glasser, Tomás de Mayo; Sáez, Mauricio A.; Retamal, Ignacio N.; Muñoz-Medel, Matías; Sánchez, Carolina; Pinto, Felipe; Aravena, Paola; San Martín, Cristopher; Sabioncello, Andrea C.; Garrido Villanueva, Marcelo; Sigler Chávez, Fernando; Ríos Leal, Juvenal A.; Manque, Patricio A.; Erpel, José M.; Godoy, Juan A.; Garrido, Marcelo
Background: Ring finger protein 43 (RNF43) is an E3 ubiquitin-protein ligase that functions as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis, and subsequent degradation of Frizzled receptors within the Wnt receptor complex. It exerts its effects on both canonical and non-canonical Wnt signaling pathways.
Case Description: This case report describes a 49-year-old female patient with a significant family history of cancer and parental consanguinity who was diagnosed with treatment-resistant stage IV gastric adenocarcinoma. Genomic profiling conducted via liquid biopsy identified a missense variant in RNF43 exon 9 (NM_017763.6, c.1948C>T; Arg650Ter) with a high variant allele frequency (VAF) of 49.5%. Confirmation of the R650* variant at the germline level underscores its clinical significance in early onset gastric cancer (GC) pathogenesis.
Conclusions: While interpretations of its pathogenicity vary in the ClinVar database, the application of the American College of Medical Genetics (ACMG) criteria suggests its potential involvement in cancer pathogenesis. This report highlights the necessity for further research to elucidate the role and impact of RNF43 in GC progression and develop specific preventive measures for affected families as genetic testing and counseling in high-risk families.
Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
(2026) Keller-Rosenthal, Noy; Sarig, Ofer; Malovitski, Kiril; Rubinstein, Rotem; Haitin, Yoni; Larrondo Gálvez, Jorge Felipe; Lenzy, Yolanda; Dlova, Ncoza; McMichael, Amy; Sprecher, Eli
Central centrifugal cicatricial alopecia (CCCA) is the most common form of primary scarring alopecia in women of African descent, typically characterized by progressive hair loss originating at the vertex of the scalp. Although genetic susceptibility has been implicated in the pathogenesis of CCCA, only 1 gene (PADI3, encoding peptidyl arginine deiminase 3) has been thus far associated with CCCA. This study aimed to broaden our understanding of the genetic basis of CCCA by analyzing whole-exome sequences from 75 patients with clinically and histologically confirmed CCCA. We identified 9 pathogenic heterozygous variants in PADI3, including, to our knowledge, 4 previously unreported missense variants, all predicted to disrupt protein function. Functional analyses revealed reduced expression, abnormal intracellular localization, and diminished enzymatic activity in cells transfected with constructs expressing the PADI3 variants. More interestingly, pathogenic variants were identified in 2 additional genes, S100A3 and TCHH, which encode the main substrates of PADI3, S100 calcium-binding protein A3 and trichohyalin. Both proteins play critical roles in hair shaft integrity. The S100A3 variant was found to cause reduced citrullination by PADI3, whereas TCHH variants altered intracellular localization and resulted in significantly reduced expression of the protein. These findings provide further insights into disease mechanisms and may inform future strategies for genetic testing and targeted therapies.
A Transparent Neural Architecture Reveals The Structure and Variability of Ideological Organization Across Societies
(Universidad del Desarrollo. Facultad de Gobierno, 2026) Fuentes Jofré, Adolfo Ignacio; Candia Vallejo, Cristian
Polarization is often described as a defining feature of contemporary politics, yet most evidence comes from political elites or from studies focused on the United
States. The structure of citizens’ ideological preferences, and how it varies across societies, remains poorly understood. We present DYNAMAP, a transparent neural framework that infers the latent geometry of human value organization directly from behavioural data. By embedding individuals and policy options in a shared space based on pairwise comparisons among real public policy issues, the model captures how citizens balance competing political values without relying on self-reports or elite cues. Applied to revealed-preference datasets from Chile, France, and Brazil, three contrasting political contexts, DYNAMAP identifies a shared, low-dimensional ideological structure anchored by a left–right axis and a secondary component reflecting contextual diversity. Within this common geometry, polarization follows distinct trajectories: among younger generations it intensifies in France and Brazil but weakens in Chile, driven by moderation among younger right-leaning participants. Traditional approaches based on self-declared ideology provide limited insight into how citizens actually organize competing values. Given that DYNAMAP learns ideological structure directly from behavioural comparisons, it reveals context-specific generational patterns that remain obscured in conventional survey data. These findings suggest that polarization reflects context-dependent rearrangements within a stable ideological space, offering a scalable and interpretable approach for understanding how societies organize disagreement.
Associations between training load, heart rate variability, perceptual fatigue, sleep, and injury in endurance athletes during a 12-week training mesocycle
(2025) Sanchez, Raimundo; Nieto, Claudio; Leppe, Jaime; Gabbett, Tim; Besomi, Manuela
This study examined associations among training load (external and internal), heart rate variability (HRV), perceptual fatigue, sleep, and injury in endurance athletes during a 12-week training mesocycle. The aims were to (i) compare these parameters between injured and non-injured weeks and (ii) assess differences between high- and low-severity injuries. Fifteen endurance athletes (80% males; median age: 36.5 years; running experience: 5.5 years) participated. Injury
severity was measured using the Oslo Sports Trauma Research Centre Questionnaire on Health Problems (OSTRCH). Training load (training stress score [TSS], Session-Rate of Perceived Exertion [sRPE]), HRV, perceptual fatigue (readiness to train and wellbeing), and sleep were collected through daily and weekly assessments over 12 weeks. The weekly injury prevalence over the 12-week period ranged from 7%–40%, with 47% classified as high severity. Injured weeks were characterised by significantly higher sleep-related impairment (p=.004, Hedge’sg=0.704), while all other variables did not significantly differ. Athletes who sustained more severe injuries exhibited lower TSS (p < .001, Hedge’sg=0.84), lower sRPE (p=.029, Hedge’sg=0.705), poorer subjective wellbeing (p=.003, Hedge’sg=0.753), and lower HRV (p=.059, Hedge’sg=0.487) in the week preceding the injury. This exploratory study provides preliminary insights into the potential role of sleep-related impairment, training load fluctuations, and HRV in injury severity among endurance athletes. While findings suggest benefits of integrating these measures into monitoring strategies, the small sample size limits generalisability and should be interpreted with caution.
Analysis of Psychological and Sleep Quality Characteristics of Young and Adult Para-Athletes with Cerebral Palsy During Competitive Period
(2025) Muñoz-Hinrichsen, Fernando; Herrera-Miranda, Felipe; Riquelme, Sonny; Henríquez, Matías; Álvarez-Ruf, Joel; Cornejo, María Isabel; Castelli Correia Campos, Luis Felipe
Emotional processes and sleep quality have become fundamental aspects of performance in Paralympic sports among elite and youth athletes. The objective of this study was to compare levels of depression, stress, anxiety, and sleep quality among youth and adult athletes with cerebral palsy (CP) belonging to the national CP Football team in Chile. A total of 10 adult and 12 youth national team athletes participated, completing the DASS-21, Pittsburgh Sleep Quality Index, and Epworth Sleepiness Scale questionnaires. The athletes were competing in their respective categories at the 2024 Parapan American Games. A
cross-sectional design was used to compare the parameters of depression, stress, anxiety, and sleep quality of youth and adult male athletes with CP of a national team selected to compete in a regional event. Significant differences were found where young athletes had lower levels of depression (χ 2 = 4.77, p = 0.02, OR = 11.0) and anxiety (χ 2 = 6.71, p = 0.01, OR = 16.5). Similar differences could be observed in favor of young athletes in sleep latency (p = 0.04; d = 0.34), bedtime (p = 0.02; d = 0.20), total hours of sleep (p = 0.04; d = 0.10), subjective sleep quality (p = 0.002; d = 0.56), and objective sleep quality (p < 0.001; d = 0.65). This study suggests that adult para-athletes from a national CP Football team exhibit higher levels of depression and anxiety compared to their youth counterparts. Additionally, objective and subjective measures show that adults experience poorer sleep quality. These findings highlight the need for targeted interventions by psychological support teams, aiming to enhance athlete performance by promoting healthy habits that address these mental health
challenges.
Flexion teardrop fracture of the cervical spine: a narrative review
(2025) Cirillo, Ignacio; Blanco, Sebastián; Cabello, Sebastián; Ricciardi, Guillermo; Guiroy, Alfredo; Yurac, Ratko; on behalf AO Spine Latin America Trauma Study Group
Teardrop fractures of the cervical spine are characterized by a triangular-shaped fragment located in the anteroinferior corner of the vertebral body. Flexion-type teardrop fractures are highly unstable injuries resulting from a flexion-compression mechanism. A notable feature of these injuries is retrolisthesis of the vertebral body, which is often associated with a high risk of neurological compromise. The anterior approach is the most commonly used surgical treatment for flexion-type teardrop fractures. In contrast, extension-type teardrop fractures primarily affect the axis vertebral body and are generally stable injuries that can be treated nonoperatively.