Repositorio Institucional Fleni
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DIAN-TU ARGENTINA. A great human story of a small group of people
No full textAlzheimer’s disease is, by far the first, cause of dementia and the more frequent neurodegenerative disease. Considered as a result of multifactorial causes, aging is the main risk factor for the classical form of the disease and because of global aging, a very significant increase in the prevalence is expected in the upcoming decades, especially in countries in development. Several drugs with different targets have been tried so far and, still with no success. Frenzied efforts seeking a new disease-modifying drug are constantly being pursued and innovative models of the clinical trials have emerged. The DIAN initiative studies individuals with known mutations in the deterministic genes of the disease. Autosomal Dominantly Alzheimer Disease (ADAD) showed to be a more predictable model in terms of whom and when will get the disease. This allows testing novel therapeutics agents by choosing the drug according to the biological moment of the disease. But ADAD is also a uniquely human story full of courage and hope. The DIAN trial has started in Argentina and a new anti-tau age has begun as well.Fil: Chrem Méndez, Patricio Alexis. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría. Centro de Memoria y Envejecimiento; Argentina.Fil: Bagnati, Pablo M. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Trastornos respiratorios durante el sueño en pacientes con accidente cerebrovascular isquémico
No full textIntroducción:
Los trastornos respiratorios durante el sueño (TRDS), sobre todo el síndrome de apneas hipopneas obstructivas (SAHOS) en pacientes con accidente cerebrovascular o ACV, son frecuentes y pueden complicar su evolución. El objetivo fue analizar diversos TRDS en pacientes con ACV.
Métodos:
Estudio descriptivo, de corte transversal y retrospectivo de 19 meses, en pacientes con ACV, mediante polisomnografía nocturna con oximetría (PSG).
Resultados:
Se incluyó a 53 pacientes, con edad media de 67 ± 12 años, y 62% pertenecían al sexo masculino. Se evaluó los TRDS mediante polisomnografía nocturna con oximetría dentro de los 10 días de instalado el ACV. Se detectó un índice de apneas hipopneas durante el sueño (IAH) de grado leve en 21%, grado moderado en 31% y severo en 34%. La media de tiempo de saturación de oxígeno < a 90% fue de 38 ±51 minutos. La saturación mínima de oxígeno fue marcada en lesiones infratentoriales.
Conclusión:
Nosotros hemos encontrado en nuestro estudio, un alto porcentaje de SAHOS, que se asoció a pacientes de mayor edad y mayor índice de masa corporal. Se constató descenso marcado de la saturación mínima y mayor tendencia a presentar apneas centrales en lesiones infratentoriales. El diagnóstico y tratamiento precoz podría minimizar el daño neuronal y mejorar el pronóstico.Fil: Folgueira, Agustin Leandro. Hospital Italiano de Buenos Aires; Argentina.Fil: Valiensi, Stella Maris. Hospital Italiano de Buenos Aires; Argentina.Fil: De Francesco, Laura. Hospital Británico de Buenos Aires; Argentina.Fil: Berrozpe, Elda Cecilia. Fleni. Departamento de Neurología. Servicio de Sueño y Vigilia. Laboratorio de Sueño; Argentina.Fil: Quiroga Narvaez, Julieta. Hospital Británico de Buenos Aires; Argentina.Fil: Martínez, Oscar Adolfo. Hospital Británico de Buenos Aires; Argentina.Fil: Bonardo, Pablo. Hospital Británico de Buenos Aires; Argentina
Rituximab- and ocrelizumab-induced early- and late-onset neutropenia in a multiple sclerosis patient
No full textResumen no disponibleFil: Marrodán, Mariano. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Laviano, Julia. CEMIC. Departamento de Medicina Interna. Servicio de Hematología; Argentina.Fil: Oneto, Sofía. Fleni. Departamento de Medicina Interna; ArgentinaFil: Reino, Fabricio M. Fleni. Departamento de Medicina Interna; ArgentinaFil: Delorme, Ricardo. Fleni. Departamento de Medicina Interna; ArgentinaFil: Fornillo, Florencia. CEMIC. Departamento de Medicina Interna. Servicio de Hematología; Argentina.Fil: Fernández, José. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina. CEMIC. Departamento de Medicina Interna. Servicio de Hematología; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina
The Immune Response in Multiple Sclerosis
No full textMultiple sclerosis (MS) is a chronic autoimmune, inflammatory, and neurodegenerative disease that affects the central nervous system (CNS). MS is characterized by immune dysregulation, which results in the infiltration of the CNS by immune cells, triggering demyelination, axonal damage, and neurodegeneration. Although the exact causes of MS are not fully understood, genetic and environmental factors are thought to control MS onset and progression. In this article, we review the main immunological mechanisms involved in MS pathogenesis.Fil: Rodríguez Murúa, Sofía. Fleni. Centro para la Investigación de Enfermedades Neuroinmunológicas; Argentina.Fil: Farez, Mauricio Franco. Fleni. Centro para la Investigación de Enfermedades Neuroinmunológicas; Argentina.Fil: Quintana, Francisco J. Ann Romney Center for Neurologic Diseases; Estados Unidos
Tau mis-splicing correlates with motor impairments and striatal dysfunction in a model of tauopathy
No full textTauopathies are neurodegenerative diseases caused by the abnormal metabolism of the microtubule associated protein Tau, which is highly expressed in neurons and critically involved in microtubule dynamics. In the adult human brain, the alternative splicing of exon 10 in tau pre-mRNA produces equal amounts of protein isoforms with either three (3 R) or four (4 R) microtubule binding domains. Imbalance in the 3 R : 4 R tau ratio is associated with primary tauopathies that develop atypical parkinsonism, such as Progressive Supranuclear Palsy and Corticobasal Degeneration. Yet, the development of effective therapies for those pathologies is an unmet goal.
Here we report motor coordination impairments in the htau mouse model of tauopathy which bear abnormal 3 R : 4 R tau isoforms contents, and contrariwise to TauKO mice, are unresponsive to L-DOPA. Preclinical-PET imaging, array tomography and electrophysiological analyses pointed the dorsal striatum as the candidate structure mediating such phenotypes. Indeed, local modulation of tau isoforms by RNA trans-splicing in the striata of adult htau mice, prevented motor coordination deficits and restored basal neuronal firing. Together, these results constitute readout that abnormal striatal tau-isoforms contents might lead to parkinsonian-like phenotypes and provide proof of concept that modulation of tau mis-splicing could be a plausible disease-modifying therapy for some primary tauopathies.Fil: Damianich, Ana. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina.Fil: Facal, Carolina Lucia. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina.Fil: Muñiz, Javier Andrés. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina.Fil: Mininni, Camilo. Instituto de Biología y Medicina Experimental; Argentina.Fil: Soiza-Reilly, Mariano. Instituto de Fisiología Biología Molecular y Neurociencias; Argentina.Fil: Ponce De León, Magdalena. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares. Laboratorio De Imágenes Preclínicas; Argentina.Fil: Urrutia, Leandro. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares. Laboratorio De Imágenes Preclínicas; Argentina.Fil: Falasco, German. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares. Laboratorio De Imágenes Preclínicas; Argentina.Fil: Ferrario, Juan Esteban. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Instituto de Biociencias, Biotecnología y Biología Traslacional (iB3); Argentina.Fil: Avale, María Elena. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina
Therapeutic plasma exchange in MS refractory relapses: Long-term outcome
No full textIntroduction
Therapeutic plasma exchange (TPE) is considered a treatment option for steroid-refractory multiple sclerosis (MS) relapses. Our objective was to assess long-term clinical response to TPE in MS steroid-refractory exacerbations.
Methods
Retrospective study of relapsing remitting MS (RRMS) patients presenting intravenous methylprednisolone (IVMPS)-refractory relapses, who underwent TPE. Response to TPE was assessed at 1, 3, 6, 12 and 24-months post-treatment, and compared to a second group of RRMS patients with similar demographic and clinical characteristics presenting, IVMPS-refractory relapses but not treated with TPE. Multivariate regression analysis was used to assess potential predictors of significant clinical response.
Results
Between 2011 to 2020, a total of 23 RRMS patients were treated with TPE. Twenty-one patients not receiving the treatment served as controls. No differences in demographic or clinical characteristics, or predictors of clinical improvement after TPE were detected between groups. Seventy-eight percent of patients treated with TPE presented clinical improvement at 24 months. TPE-treated patients presented lower EDSS scores at 6 and at 24 months. Younger age, presence of gadolinium-enhancing lesions and TPE treatment were associated with better clinical outcomes. No life-threatening side effects were reported.
Conclusions
TPE is a safe and well tolerated procedure that decreases long-term disability in RRMS patients with IVMPS-refractory relapses.Fil: Marrodán, Mariano. Fleni. Departamento de Neurología; Argentina.Fil: Crema, Santiago. Fleni. Departamento de Neurología; ArgentinaFil: Rubstein, A. Merck KGaA; Alemania.Fil: Alessandro, Lucas. Fleni. Departamento de Neurología; Argentina.Fil: Fernández, José. Fleni. Departamento de Medicina Interna. Hematología y Trombosis; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; ArgentinaFil: Ysrraelit, Maria Célica. Fleni. Departamento de Neurología; Argentina
Using Multicontext Approach to Improve Instrumental Activities of Daily Living Performance after a Stroke: A Case Report
No full textCognitive deficits constitute one of the greatest challenges for independence achievement after a stroke. This paper provides an in depth view of the application of the Multicontext approach within routine Occupational Therapy care for a 41-year-old who demonstrated limited participation in activities of daily living as a consequence of executive function impairments and limited self-awareness. Results indicated improved online self-awareness, strategy use and functional performance, however, no changes were observed on a standard Awareness Questionnaire. This suggests that awareness within activities may be more important in contributing to effective strategy use and functional performance compared to verbal acknowledgment in an interview. Results also support the feasibility of the Multicontext approach within inpatient settings in Argentina.Fil: Nagelkop, Nicole Denise. Fleni. Centro de Rehabilitación Adultos CR. Servicio de Terapia Ocupacional; Argentina.Fil: Rosselló, Milagros. Fleni. Centro de Rehabilitación Adultos CR. Servicio de Terapia Ocupacional; Argentina.Fil: Aranguren, Isabel. Fleni. Centro de Rehabilitación Adultos CR. Servicio de Terapia Ocupacional; Argentina.Fil: Lado, Vanina. Fleni. Centro de Rehabilitación Adultos CR. Servicio de Terapia Ocupacional; Argentina.Fil: Ron, Melania. Fleni. Centro de Rehabilitación Adultos CR. Servicio de Terapia Ocupacional; Argentina.Fil: Toglia, Joan. Mercy College; Estados Unidos
High rates of (treated) hypothyroidism among chronic migraine patients consulting a specialized headache clinic: are we missing something?
No full textBackground: Roughly three percent of episodic migraine patients evolve into the most burdensome chronic form of this condition every year. While some of the determinants behind this transformation are well established, others are still ill defined. Hypothyroidism is a prevalent endocrinological disorder that can both produce a secondary headache or aggravate a pre-existing primary headache disorder such as migraine.
Objective: We aimed to re-assess the association between hypothyroidism and chronic migraine controlling for factors such as hormone replacement treatment status and bodyweight.
Methods: We retrospectively analyzed the medical records of episodic and chronic migraine patients who consecutively consulted our headache clinic in order to determine the prevalence of adequately treated hypothyroidism in each group. Only patients receiving a stable dose regimen were included. The body mass index and other possibly confounding covariates were also collected.
Results: Data from 111 migraine patients was included for analysis. Most (88.6%) of chronic migraine sufferers were overusing acute medication. Treated hypothyroidism was significantly more prevalent in chronic migraine patients (29.55%) compared to episodic migraine patients (8.96%). This association was independent of the patients' body mass index or other variables.
Conclusion: Alterations of neuronal metabolism, deficient calcitonin release, or focal inflammation causing local hormonal deactivation might explain why hypothyroidism, in spite of levothyroxine replacement therapy, is associated with migraine chronification. Further studies evaluating these factors are warranted.Fil: Filipchuk, Marcelo. Instituto Conci-Carpinella; Argentina.Fil: Gassmann, Jesica. Instituto Conci-Carpinella; Argentina.Fil: Castro Zamparella, Tatiana. Instituto Conci-Carpinella; Argentina.Fil: Tibaldo, Maria Cecilia. Instituto Conci-Carpinella; Argentina.Fil: Carpinella, Mariela. Instituto Conci-Carpinella; Argentina.Fil: Sesto Tagliavini, Pablo. Instituto Conci-Carpinella; Argentina.Fil: Scarnato, Pablo. Instituto Conci-Carpinella; Argentina..Fil: Goicochea, María Teresa. Fleni. Departamento de Neurología. Clínica del Dolor. Clínica de Cefaleas; Argentina.Fil: Bruera, Osvaldo. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Conci Magris, Diego Martín. Instituto Conci-Carpinella; Argentina.Fil: Lisicki, Marco. Instituto Conci-Carpinella; Argentina
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes
No full textIntroduction: A growing number of dominantly inherited Alzheimer's disease (DIAD) cases have become known in Latin American (LatAm) in recent years. However, questions regarding mutation distribution and frequency by country remain open.
Methods: A literature review was completed aimed to provide estimates for DIAD pathogenic variants in the LatAm population. The search strategies were established using a combination of standardized terms for DIAD and LatAm.
Results: Twenty-four DIAD pathogenic variants have been reported in LatAm countries. Our combined dataset included 3583 individuals at risk; countries with highest DIAD frequencies were Colombia (n = 1905), Puerto Rico (n = 672), and Mexico (n = 463), usually attributable to founder effects. We found relatively few reports with extensive documentation on biomarker profiles and disease progression.
Discussion: Future DIAD studies will be required in LatAm, albeit with a more systematic approach to include fluid biomarker and imaging studies. Regional efforts are under way to extend the DIAD observational studies and clinical trials to Latin America.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.Fil: Surace, Ezequiel. Fleni. Departamento de Neuropatología y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Chrem Méndez, Patricio Alexis. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.Fil: Llibre-Guerra, Jorge J. Washington University in St. Louis. Department of Neurology; Estados Unidos.Fil: Li, Yan. Washington University in St. Louis. Department of Neurology; Estados Unidos.Fil: Llibre-Rodriguez, Juan J. Universidad de Ciencias Medicas de la Habana; Cuba.Fil: Sosa, Ana Luisa. Instituto Nacional de Neurología y Neurocirugía; México.Fil: Aláez-Verson, Carmen. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.Fil: Longoria, Erika-Mariana. Instituto Nacional de Neurología y Neurocirugía; México.Fil: Tellez, Alberto. Instituto Nacional de Neurología y Neurocirugía; México.Fil: Carrillo-Sánchez, Karol. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.Fil: Flores-Lagunes, Luis Leonardo. Instituto Nacional de Medicina Genómica. Laboratorio de Diagnóstico Genómico; México.Fil: Sánchez, Victor. Hospital das Clinicas, University of São Paulo Medical School. Department of Neurology; Brasil.Fil: Tadao Takada, Leonel. General Hospital of Fortaleza; Brasil.Fil: Nitrini, Ricardo. General Hospital of Fortaleza; Brasil.Fil: Ferreira-Frota, Norberto Anizio. Grupo de Neurociencias de Antioquia; Colombia.Fil: Benevides-Lima, Joyce. Grupo de Neurociencias de Antioquia; Colombia.Fil: Lopera, Francisco. University of Puerto Rico School of Medicine; Puerto Rico.Fil: Ramírez, Laura. University of Puerto Rico School of Medicine; Puerto Rico.Fil: Jiménez-Velázquez, Ivonne. Universidad Nacional Pedro Henríquez Ureña; República Dominicana
Escenario actual de la HTA en LATAM: Uso de Monoterapia/combinaciones: ¿Cuáles son los desafíos?
No full textResumen no disponibleFil: Koretzky, Martin H. Fleni. Servicio de Cardiología; Argentina