https://repositorio.fleni.org.ar/xmlui/handle/123456789/809 Sat, 17 Oct 2026 10:30:11 GMT 2026-10-17T10:30:11Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1618 Generation of a human induced pluripotent stem cell line (FLENIi004-A) from an Autosomal-Dominant Alzheimer's disease PSEN1 p.M146L patient Vautier, Mercedes Florencia; Chrem Méndez, Patricio Alexis; Jerez Ferreyra, Guillermo; Massazza, Victoria; Apecetche, Manuela; Rodríguez Varela, María Soledad; Clas, Giulia Solange; Nievas, Micaela; Allegri, Ricardo Francisco; Sevlever, Gustavo Emilio; Scassa, María Élida; Surace, Ezequiel Ignacio; Marazita, Mariela Claudia; Romorini, Leonardo Human induced pluripotent stem cell (hiPSC) line FLENIi004-A was generated from peripheral blood mononuclear cells (PBMCs) using the lentiviral-hSTEMCCA-loxP vector. FLENIi004-A was derived from a 41-year-old Argentinean Caucasian male patient with Autosomal-Dominant Alzheimer's Disease, who carried the heterozygous PSEN1 p.M146L mutation. The hiPSC line retained the PSEN1 mutation, and its pluripotency and trilineage differentiation potential were confirmed. Mon, 01 Jun 2026 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1618 2026-06-01T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1610 Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss Vishnopolska, Sebastian; Liu, James; Camilletti, María Andrea; Martínez Mayer, Julián; Iglesias García, Lucía; Brinkmeier, Michelle; Vaiani, Elisa; Vidal, Sofia Hebe; Ciaccio, Marta; Di Palma, María Isabel; Belgorosky, Alicia; Marti, Marcelo; Hufnagel, Robert B.; Camper, Sally A.; Pérez-Millán, María Inés NPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in PNPLA6 have been identified in individuals with a broad spectrum of disorders that can include ataxia, vision loss, and pituitary hormone deficiency. Here, we report the identification of novel compound heterozygous variants in PNPLA6 (p.T1115P and p.Pro1142_Ala1143ins14) in a 10-year-old girl with combined pituitary hormone deficiency, including growth hormone, thyroid-stimulating hormone, and gonadotropins. She also has vision loss and neurodevelopmental delay. Functional validation demonstrates that both variants, a missense substitution affecting a highly conserved residue within the catalytic domain and an intronic variant generating a novel splice acceptor site, completely abolish NTE activity, establishing their pathogenicity. Little is known about the cause of hypopituitarism in individuals with PNPLA6 deficiency. Here, we report the cell-type-specific expression of PNPLA6 in mouse pituitary development and in adult animals. PNPLA6 is expressed broadly in SOX2+ stem cells within the pituitary primordium as early as e10.5, prior to lineage specification, suggesting a role in progenitor maintenance and early differentiation. In neonates and adults, expression predominates in the cells that produce growth hormone and pro-opiomelanocortin. These findings suggest that PNPLA6 could influence pituitary development at early stages, as well as contribute to the altered function of hormone-secreting cells. Fri, 19 Jun 2026 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1610 2026-06-19T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1609 Assessment of sports-related concussion in children and adolescents Testa, Nelly; Pochetti, Juliana; Russo, María Julieta Advances in research on sports-related concussions have led to updates in diagnostic and management protocols. This article reviews the recommendations from the Sixth International Consensus Conference on Concussion in Sport (Amsterdam, 2022), focusing on children (ages 8-12) and adolescents (ages 13-18). It highlights preventive strategies, such as identifying risk factors, using protective equipment, implementing regulatory changes, and engaging in neuromuscular training. Up-to-date clinical tools are recommended for identification and monitoring. Initial management includes relative rest for 24-48 hours, with limited screen time, followed by subthreshold physical exercise. Specific rehabilitation is indicated if symptoms persist. This comprehensive, evidence-based approach optimizes recovery and minimizes long-term effects, promoting the safety and well-being of young athletes.The proposed protocol aims to guide pediatricians and sports professionals in clinical decision-making. Wed, 30 Sep 2026 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1609 2026-09-30T00:00:00Z https://repositorio.fleni.org.ar/xmlui/handle/123456789/1605 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; Aguillón, David; Aláez Versón, Carmen; Becerra Solano, Luis Eduardo; Behrens, María Isabel; Branda, Kelly; Chrem Méndez, Patricio Alexis; Custodio, Nilton; Ducaine, Whitney; Dumois Petersen, Sofía; Figuera, Luis; Londoño Castaño, Marisol; Longoria, Erika Mariana; Matute, Esmeralda; Surace, Ezequiel Ignacio; Programa de asesoramiento genético en América Latina (PRAGA) 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. Wed, 27 May 2026 00:00:00 GMT https://repositorio.fleni.org.ar/xmlui/handle/123456789/1605 2026-05-27T00:00:00Z