https://repositorio.fleni.org.ar/xmlui/handle/123456789/76 2026-09-17T15:47:34Z 2026-09-17T15:47:34Z Magariños, Eduardo Henestrosa, Germán Scuteri, Antonio Romano, Ariel Sandoval, Carla Elizabeth Virginia Andrea, Pujol Lereis Ameriso, Sebastián Francisco https://repositorio.fleni.org.ar/xmlui/handle/123456789/1606 2026-09-16T18:27:19Z 2025-10-01T00:00:00Z

Cierre de foramen oval permeable guiado por ecocardiografía intracardíaca: resultados iniciales y descripción de la técnica Magariños, Eduardo; Henestrosa, Germán; Scuteri, Antonio; Romano, Ariel; Sandoval, Carla Elizabeth; Virginia Andrea, Pujol Lereis; Ameriso, Sebastián Francisco Introducción: El cierre percutáneo del foramen oval permeable (FOP) está establecido como tratamiento para prevención secundaria de un nuevo accidente cerebrovascular (ACV) en un grupo seleccionado de pacientes. En este trabajo se analizan los resultados iniciales del cierre percutáneo, asistido por ecocardiografía intracardíaca (ECI), en 226 pacientes consecutivos de un solo centro. Adicionalmente se realiza una descripción de la técnica empleada. Objetivo: Analizar los resultados iniciales y evolución intrahospitalaria de 226 pacientes consecutivos en quienes se intentó cierre de un FOP asistido por ECI. Además, describir la técnica utilizada. Resultados: Del 21 de noviembre de 2016 al 25 de agosto de 2025, en 226 pacientes con ACV un ECI confi rmó la presencia de FOP. En estos pacientes se intentó cierre percutáneo asistido por ECI. Se obtuvo cierre del FOP en el 100% de los casos; las complicaciones mayores fueron del 0% y 7,5% presentaron complicaciones menores. Conclusiones: En el grupo de pacientes analizados el cierre percutáneo del FOP con la técnica empleada fue exitoso en un elevado número de casos, no ocurrieron complicaciones mayores y las complicaciones menores fueron del 7,5%.

2025-10-01T00:00:00Z Jiménez, Daniel A. Bagnati, Pablo M. Flores‐Montes, Rosa Elena Fernández, María Laura Zuno‐Reyes, Angélica Aguillon, David Alaez‐Verson, Carmen Becerra‐Solano, Luis E. Behrens, María Isabel Branda, Kelly Chrem, Patricio Custodio, Nilton Ducaine, Whitney Dumois‐Petersen, Sofia Figuera, Luis Londoño Castaño, Marisol Longoria, Erika Mariana Matute, Esmeralda Surace, Ezequiel https://repositorio.fleni.org.ar/xmlui/handle/123456789/1605 2026-09-16T18:14:59Z 2026-05-27T00:00:00Z

Recommendations for genetic counseling for individuals at risk of autosomal dominant Alzheimer's disease in Latin America Jiménez, Daniel A.; Bagnati, Pablo M.; Flores‐Montes, Rosa Elena; Fernández, María Laura; Zuno‐Reyes, Angélica; Aguillon, David; Alaez‐Verson, Carmen; Becerra‐Solano, Luis E.; Behrens, María Isabel; Branda, Kelly; Chrem, Patricio; Custodio, Nilton; Ducaine, Whitney; Dumois‐Petersen, Sofia; Figuera, Luis; Londoño Castaño, Marisol; Longoria, Erika Mariana; Matute, Esmeralda; Surace, Ezequiel Autosomal dominant Alzheimer's disease (ADAD) represents a small but impactful subset of Alzheimer's cases. Asymptomatic individuals at genetic risk face substantial personal and family implications when considering predictive testing for known familial variants. Genetic counseling and testing (GCT) frameworks remain limited in Latin America (LatAm). Recommendations for GCT in LatAm were developed through an iterative, multidisciplinary consensus process. Evidence inputs included a structured literature review, site‐level recommendations from participating LatAm centers, and a qualitative synthesis of focus groups with experienced investigators. The resulting model includes pre‐test evaluation, sample collection, result disclosure, and structured follow‐up. Core elements comprise mental health assessment, psychoeducation, exploration of expectations and decision‐making needs, guided disclosure with emotional support, and a suggested 3‐month post‐disclosure reassessment using validated psychological measures. Our framework provides structured guidance for the safe and ethical delivery of GCT for ADAD through a multidisciplinary, culturally informed, and patient‐centered approach in LatAm.

2026-05-27T00:00:00Z Guarnaschelli, María Flor Marrodán, Mariano Sosa, Brian Ezequiel Perez Arana, Carolina I. Farez, Mauricio Franco Fiol, Marcela Paula Ysrraelit, María Célica Correale, Jorge https://repositorio.fleni.org.ar/xmlui/handle/123456789/1604 2026-09-16T18:09:17Z 2026-04-29T00:00:00Z

Early use of high-efficacy disease-modifying therapies reduces the risk of progression independent of relapse and MRI activity in patients with relapsing-remitting multiple sclerosis Guarnaschelli, María Flor; Marrodán, Mariano; Sosa, Brian Ezequiel; Perez Arana, Carolina I.; Farez, Mauricio Franco; Fiol, Marcela Paula; Ysrraelit, María Célica; Correale, Jorge Background: Progression independent of relapse and MRI activity (PIRMA) is a major contributor to long-term disability in relapsing-remitting multiple sclerosis (RRMS). In Latin America, limited access to high-efficacy disease-modifying therapies (DMTs) may influence PIRMA risk, but real-world evidence is scarce. We aimed to estimate the causal effect of DMT efficacy on PIRMA in an Argentine cohort. Methods: We conducted a retrospective observational study including 264 adults with RRMS meeting predefined disability follow-up criteria. Treatment exposure was modeled as a time-varying variable (low-efficacy vs moderate-/high-efficacy), applying a 60-day pharmacological lag after treatment switches. To address time-dependent confounding, we used a marginal structural model with overlap weighting and a weighted Cox proportional hazards model. Results: Median age at treatment initiation was 31.5 years, 62.1% were female, and median baseline EDSS was 1.0. Over a median follow-up of 7 years, 26 PIRMA events occurred. Exposure to low- or moderate-efficacy DMTs was associated with a significantly higher risk of PIRMA compared with high-efficacy therapies (HR 7.05; 95% CI 1.15-43.35). Conclusion: Exposure to low-/moderate-efficacy disease-modifying therapies was associated with a substantially higher risk of PIRMA compared with high-efficacy treatments, supporting the potential benefit of early access to high-efficacy therapies in RRMS.

2026-04-29T00:00:00Z Giménez, Sandra Vaqué-Alcázar, Lídia Clos, Susana Benejam, Bessy Carmona-Iragui, Maria Maure-Blesa, Lucía Videla, Laura Zhu, Nuole Altuna, Miren Arranz, Javier Barroeta, Isabel Rodríguez-Baz, Íñigo Bejanin, Alexandre Bueno, Ana Fernandez, Susana Del Hoyo Soriano, Laura Pertierra, Lucia Alcolea, Daniel Miller, Bruce Grinberg, Lea T. https://repositorio.fleni.org.ar/xmlui/handle/123456789/1603 2026-09-16T17:45:49Z 2026-05-01T00:00:00Z

Characterizing circadian rest-activity rhythm patterns across Alzheimer's disease continuum in Down syndrome Giménez, Sandra; Vaqué-Alcázar, Lídia; Clos, Susana; Benejam, Bessy; Carmona-Iragui, Maria; Maure-Blesa, Lucía; Videla, Laura; Zhu, Nuole; Altuna, Miren; Arranz, Javier; Barroeta, Isabel; Rodríguez-Baz, Íñigo; Bejanin, Alexandre; Bueno, Ana; Fernandez, Susana; Del Hoyo Soriano, Laura; Pertierra, Lucia; Alcolea, Daniel; Miller, Bruce; Grinberg, Lea T. Introduction: Sleep and circadian rest-activity rhythm (RAR) disruption may bidirectionally relate to Alzheimer's disease (AD). Down syndrome (DS), the most common genetic cause of AD, presents sleep disorders, yet RAR patterns across the DS-associated AD continuum remain uncharacterized. Methods: We analyzed 7-day wrist actigraphy in 140 adults with DS (108 asymptomatic; 32 AD dementia) and 41 unimpaired controls. General linear models, adjusted for age, sex, sleep efficiency, and obstructive sleep apnea (OSA) severity, tested group differences, with interaction terms included to evaluate group-specific associations. Results: DS showed lower relative amplitude and higher nocturnal activity, already in asymptomatic individuals. Rhythm strength declined further with AD progression, while regularity and phase timing remained preserved until dementia. Findings were independent of sleep duration and OSA. Discussion: Adults with DS showed early RAR disturbance that progressed across the AD continuum, paralleling sporadic AD. Circadian RAR features may be scalable biomarkers of AD progression.

2026-05-01T00:00:00Z