Repositorio Institucional Fleni
Not a member yet
602 research outputs found
Sort by
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update
No full textBackground: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.
Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).
Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.
Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina.Fil: Dispenzieri, Angela. Mayo Clinic. Division of Hematology; Estados Unidos.Fil: Coelho, Teresa. Centro Hospitalar Universitário do Porto. Hospital Santo António. Unidade Corino Andrade; Portugal.Fil: Conceição, Isabel. Universidade de Lisboa. Hospital de Santa Maria. Department of Neurosciences, CHULN; Portugal.Fil: Waddington-Cruz, Márcia. CEPARM. National Amyloidosis Referral Center; Brasil. Federal University of Rio de Janeiro. University Hospital; Brasil.Fil: Wixner, Jonas. Umeå University. Department of Public Health and Clinical Medicine; Suiza.Fil: Kristen, Arnt V. Medical University of Heidelberg. Department of Cardiology, Angiology, Respiratory Medicine: Alemania.Fil: Rapezzi, Claudio. University of Ferrara. Cardiological Centre; Italia. GVM Care & Research. Maria Cecilia Hospital; Italia.Fil: Planté-Bordeneuve, Violaine. Hôpital Henri Mondor - AP-HP, East Paris University; Francia.Fil: Gonzalez-Moreno, Juan. Instituto de Investigación Sanitaria Illes Balears. Hospital Universitario Son Llatzer. Servicio de Medicina Interna; España.Fil: Maurer, Mathew S. Columbia University College of Physicians and Surgeons; Estados Unidos.Fil: Grogan, Martha. Mayo Clinic. Department of Cardiovascular Diseases; Estados Unidos.Fil: Chapman, Doug. Pfizer Inc.; Estados Unidos.Fil: Amass, Leslie. Pfizer Inc.; Estados Unidos
Rebound activity after fingolimod cessation: A case - control study
No full textBackground: There has been an increase in the number of reports of multiple sclerosis (MS) rebound activity (RA), which is usually defined as a severe disease reactivation after natalizumab or fingolimod withdrawal that exceeds pre-treatment baseline inflammatory activity. The frequency and risk factors that could predict RA remain unknown. Fingolimod is currently the most frequently prescribed disease modifying therapy for MS in Argentina, so that there is a need to determine possible predictors of RA.
Objectives: To identify risk factors for developing RA after fingolimod cessation; to describe RA characteristics, management and evolution.
Methods: The study was a multicenter, retrospective, case-control study of patients with MS who had discontinued fingolimod and were followed up to nine months after discontinuation. Demographic, clinical and paraclinical data was extracted, including age, gender, MS phenotype, reason for discontinuation, number of relapses during the year prior to suspension, time treated with fingolimod, EDSS before, during and after rebound, MRI findings.
Results: 26 cases of RA were matched 1:1 with patients without RA. The median time elapsed to RA was 50 days. 68% showed worsening of the EDSS in the evaluation at 3 months of RA. When compared with the control group, no difference was found in terms of age, gender, phenotype, EDSS at the moment of suspension, reason for discontinuation, number of relapses in the previous year, and time on therapy.
Conclusion: In this case-controlled study, no risk factors could be identified to predict RA after fingolimod cessation. Further controlled, prospective, better powered studies are needed to confirm these findings.Fil: Barboza, Andrés G. Hospital Central de Mendoza; Argentina.Fil: Gaitán, María Inés. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Alonso, Ricardo. Hospital Ramos Mejía; Argentina.Fil: Ysrraelit, María Célica. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Luetic, Geraldine. Instituto de Neurociencias de Rosario; Argentina.Fil: Liwacki, Susana. Hospital Córdoba; Argentina.Fil: Patrucco, Liliana. Hospital Italiano de Buenos Aires; Argentina.Fil: Halfon, Mario Javier. Hospital Británico de Buenos Aires; Argentina.Fil: Burgos, Marcos. Hospital San Bernardo; Argentina.Fil: Mainella, Carolina. Hospital Español de Rosario; Argentina.Fil: Pierdabuena, Raul. Clinica Reina Fabiola; Argentina.Fil: Recchia, Luciano. Hospital Central de Mendoza; Argentina.Fil: Steinberg, Judith. Hospital Britanico de Buenos Aires; Argentina.Fil: Tkachuk, Veronica Analia. Hospital de Clínicas José de San Martin; Argentina.Fil: Zanga, Gisela. ENERI; Argentina.Fil: Carra, Adriana. Hospital Británico de Buenos Aires; ArgentinaFil: Chertcoff, Aníbal. Hospital Británico de Buenos Aires; Argentina.Fil: Fernandez Liguori, Nora. Sanatorio Güemes; Argentina.Fil: Lazaro, Luciana. Sanatorio Güemes; Argentina.Fil: Menichini, Maria Laura. Instituto de Neurociencias de Rosario; Argentina
Clinical application of the “sellar barrier’s concept” for predicting intraoperative CSF leak in endoscopic endonasal surgery for pituitary adenomas with a machine learning analysis
No full textBackground: Recently, it was defined that the sellar barrier entity could be identified as a predictor of cerebrospinal fluid (CSF) intraoperative leakage. The aim of this study is to validate the application of the sellar barrier concept for predicting intraoperative CSF leak in endoscopic endonasal surgery for pituitary adenomas with a machine learning approach.
Methods: We conducted a prospective cohort study, from June 2019 to September 2020: data from 155 patients with pituitary subdiaphragmatic adenoma operated through endoscopic approach at the Division of Neurosurgery, Università degli Studi di Napoli “Federico II,” were included. Preoperative magnetic resonance images (MRI) and intraoperative findings were analyzed. After processing patient data, the experiment was conducted as a novelty detection problem, splitting outliers (i.e., patients with intraoperative fistula, n = 11/155) and inliers into separate datasets, the latter further separated into training (n = 115/144) and inlier test (n = 29/144) datasets. The machine learning analysis was performed using different novelty detection algorithms [isolation forest, local outlier factor, one-class support vector machine (oSVM)], whose performance was assessed separately and as an ensemble on the inlier and outlier test sets.
Results: According to the type of sellar barrier, patients were classified into two groups, i.e., strong and weak barrier; a third category of mixed barrier was defined when a case was neither weak nor strong. Significant differences between the three datasets were found for Knosp classification score (p = 0.0015), MRI barrier: strong (p = 1.405 × 10−6), MRI barrier: weak (p = 4.487 × 10−8), intraoperative barrier: strong (p = 2.788 × 10−7), and intraoperative barrier: weak (p = 2.191 × 10−10). We recorded 11 cases of intraoperative leakage that occurred in the majority of patients presenting a weak sellar barrier (p = 4.487 × 10−8) at preoperative MRI. Accuracy, sensitivity, and specificity for outlier detection were 0.70, 0.64, and 0.72 for IF; 0.85, 0.45, and 1.00 for LOF; 0.83, 0.64, and 0.90 for oSVM; and 0.83, 0.55, and 0.93 for the ensemble, respectively.
Conclusions: There is a true correlation between the type of sellar barrier at MRI and its in vivo features as observed during endoscopic endonasal surgery. The novelty detection models highlighted differences between patients who developed an intraoperative CSF leak and those who did not.Fil: Villalonga, Juan Francisco. Universidad Nacional deTucumán. Facultad de Medicina. Laboratorio de Innovaciones Neuroquirúrgicas de Tucumán; Argentina. University of Naples Federico II. Department of Neuroscience and Reproductive and Odontostomatological Sciences; Italia.Fil: Cervio, Andrés.Fleni. Departamento de Neurocirugía; Argentina.Fil: Campero, Álvaro. Universidad Nacional de Tucumán. Facultad de Medicina. Laboratorio de Innovaciones Neuroquirúrgicas de Tucumán; Argentina.Fil: Solari, D. University of Naples Federico II. Department of Neuroscience and Reproductive and Odontostomatological Sciences; Italia.Fil: Cuocuolo, R. University of Naples Federico II. Department of Advanced Biomedical Sciences; Italia.Fil: De Lucía, V. Universidad Nacional de Tucumán. Facultad de Medicina. Laboratorio de Innovaciones Neuroquirúrgicas de Tucumán; Argentina.Fil: Ugga, L. University of Naples Federico II. Department of Advanced Biomedical Sciences; Italia.Fil: Gragnaniello, C. University of Naples Federico II. Department of Neuroscience and Reproductive and Odontostomatological Sciences; Italia. Swedish Neuroscience Institute. Department of Neurological Surgery; Estados Unidos.Fil: Pailler, J.I. Universidad Nacional de Tucumán. Facultad de Medicina. Laboratorio de Innovaciones Neuroquirúrgicas de Tucumán; Argentina.Fil: Cavallo, L.M. University of Naples Federico II. Department of Neuroscience and Reproductive and Odontostomatological Sciences; Italia.Fil: Cappabianca, P. University of Naples Federico II. Department of Neuroscience and Reproductive and Odontostomatological Sciences; Italia
Quality of life assessed 6 months after hospitalisation for acute heart failure: an analysis from REPORT-HF (international REgistry to assess medical Practice with lOngitudinal obseRvation for Treatment of Heart Failure)
No full textAims: Recovery of well-being after hospitalisation for acute heart failure (AHF) is a measure of the success of interventions and the quality of care but has rarely been quantified. Accordingly, we measured health status after discharge in an international registry (REPORT-HF) of AHF.
Methods and results: The analysis included 4606 patients with AHF who survived to hospital discharge, had known vital status at 6 months, and were enrolled in the United States of America, Russian Federation, or Western Europe, where the Kansas City Cardiomyopathy Questionnaire (KCCQ) was administered. Median age was 69 years (quartiles 59-78), 40% were women, and 34% had a left ventricular ejection fraction (LVEF) 75), while 43% had poor health status (KCCQ ≤50). Being 'alive and well' was associated with new-onset AHF, LVEF <40%, younger age, higher baseline KCCQ, country, and race. Associations were similar for increasing health status, with the exception of country and addition of comorbidities.
Conclusion: In this international global registry, health status recovery after AHF hospitalisation was highly variable. Those with the best health status at 6 months were younger, had new-onset heart failure, and higher baseline KCCQ; nearly one-third of survivors were 'alive and well'. Investigating reasons for changes in KCCQ after hospitalisation might identify new therapeutic targets to improve patient-centred outcomes.Fil: McNaughton, Candace D. University of Toronto; Canadá.Fil: McConnachie, Alex. University of Glasgow; Reino Unido.Fil: Cleland, John G. University of Glasgow; Reino Unido.Fil: Spertus, John A. University of Missouri; Estados Unidos.Fil: Angermann, Christiane E. University of Würzburg; Alemania.Fil: Duklas, Patrycja. University of Glasgow; Reino Unido.Fil: Tromp, Jasper. The National University Health System; Singapur.Fil: Lam, Carolyn S. P. National Heart Centre Singapore; Singapur.Fil: Filippatos, Gerasimos. University of Cyprus; Chipre.Fil: Dahlstrom, Ulf. Linkoping University; Suecia.Fil: Dickstein, Kenneth. Stavanger University Hospital; Noruega.Fil: Schweizer, Anja. Novartis Pharma; Suiza.Fil: Perrone, Sergio Víctor. Fleni. Servicio de Cardiología; Argentina. Instituto Argentino de Diagnóstico y Tratamiento; Argentina. Hospital de Alta Complejidad en Red “El Cruce” Néstor Kirchner; Argentina.Fil: Hassanein, Mahmoud. Alexandria University; Egipto.Fil: Ertl, Georg. University of Würzburg; Alemania.Fil: Obergfell, Achim. Glattbrugg; Suiza.Fil: Ghadanfar, Mathieu. M-Ghadanfar Consulting; Suiza.Fil: Collins, Sean P. Vanderbilt University Medical Center; Estados Unidos
Perineurioma intraneural del nervio mediano. Utilidad de la neurología por resonancia magnética en el diagnóstico y seguimiento
No full textFil: Goñi, Romina Raquel. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Carballo, Leandro. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Fernández, Ivana. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Socolovsky, Mariano. Fleni. Departamento de Neurocirugía; Argentina.Fil: Arakaki, Naomi. Fleni. Departamento de Neurología; Argentina.Fil: Cejas, Claudia Patricia. Fleni. Departamento de Diagnóstico por Imágenes; Argentina
Validation of an events exposure questionnaire for individuals living in major cities of Argentina
No full textMost of the validated 'events exposure' questionnaires are focused on lifetime burden and are hardly applicable to Argentina owing to its sociocultural and natural conditions, where corruption and economic crises have been hitting middle-class people's lives in a cyclic manner. This prompted us to develop a new questionnaire, validated in Argentina, to assess the occurrence of exposure to events and their severity over a limited period. Deductive (bibliographic search) and inductive (by a Delphi group) selection was used to create an initial group of 24 questions, which were condensed into a final 14-item questionnaire. After administration to 512 inhabitants of the metropolitan area of Buenos Aires and other major cities in Argentina, the questionnaire was shown to have an intraclass correlation coefficient of 0.996 and an internal consistency, measured by the omega coefficient, of 0.86. Because this study was conducted during the coronavirus disease 2019 (COVID-19) pandemic, an additional question on how this situation affected individuals was included. The time span used to measure event exposure was 1 year prior to the study. In the case of an affirmative event exposure, the responder selected the severity of the stress perception generated on a Likert-like scale, ranging from 0 (nothing) to 5 (severe). Fifty-eight per cent of the responders were women, and the mean age was 47.14 years (SD: 13.97). The average annual event incidence per person was 2.5 events (SD: 1.88). Thirty-two per cent (164/512) reported at least one 5-point event on the severity scale. Ten per cent (51/512) responded that the COVID-19 pandemic affected them in a different manner than events related to personal or family disease, or the death of a close family member or friend.Fil: Páez-Maggio, Mauricio J. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Rossi, Malco. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.Fil: Fazzito, María Lucía. Fleni. Servicio de Psiquiatría; Argentina.Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Católica Argentina; Argentina
MRI pattern in acute optic neuritis: Comparing multiple sclerosis, NMO and MOGAD
No full textBackground: Several MRI findings of optic neuritis (ON) have been described and correlated with specific underlying etiologies. Specifically, optic nerve enhancement is considered an accurate biomarker of acute ON.
Objective: To identify differences in MRI patterns of optic nerve enhancement in certain demyelinating etiologies presenting with acute ON.
Methods: Retrospective analysis of enhancement patterns on fat-suppressed T1-weighted images from patients presenting clinical and radiological acute ON, treated at our institution between January 2014 and June 2022. Location and extension of enhancing optic nerve segments, as well as presence of perineural enhancement were evaluated in three predetermined demyelinating conditions. Fisher's exact test and chi2 were calculated.
Results: Fifty-six subjects met eligibility criteria. Mean age was 31 years (range 6-79) and 70% were females. Thirty-four (61%) patients were diagnosed with multiple sclerosis (MS), 8 (14%) with neuromyelitis optica (NMO), and 14 (25%) with anti-myelin oligodendrocyte glycoprotein disease (MOGAD). Bilateral involvement was more frequent in MOGAD, compared to MS and NMO (43 vs 3% and 12.5% respectively, p = 0.002). MS patients showed shorter optic nerve involvement, whereas MOGAD showed more extensive lesions (p = 0.006). Site of involvement was intraorbital in 63% MS, 89% NMO, 90% MOGAD (p = 0.051) and canalicular in 43% MS, 33% NMO and 75% MOGAD (p = 0.039). Intracranial or chiasmatic involvement and presence of perineural enhancement were not statistically different between entities.
Conclusion: In the setting of acute ON, patients presenting MOGAD were more likely to show bilateral, longitudinally extended and anterior (intraorbital and canalicular) optic nerve involvement compared to patients with MS or NMO.Fil: Darakdjian, Maximiliano Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Chaves, Hernán. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Cejas, Claudia Patricia. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Hernandez, Jairo. Fleni. Departamento de Diagnóstico por Imágenes; Argentina
Advances in Treatment of Frontotemporal Dementia
No full textIn this review, the authors explored the clinical features of frontotemporal dementia (FTD), focusing on treatment. The clinical features of FTD are unique, with disinhibition, apathy, loss of empathy, and compulsions common. Motor changes occur later in the illness. The two major proteins that aggregate in the brain with FTD are tau and TDP-43, whereas a minority of patients aggregate FET proteins, primarily the FUS protein. Genetic causes include mutations in MAPT, GRN, and C9orf72. There are no medications that can slow FTD progression, although new therapies for the genetic forms of FTD are moving into clinical trials. Once a diagnosis is made, therapies should begin, focusing on the family and the patient. In the setting of FTD, families experience a severe burden associated with caregiving, and the clinician should focus on alleviating this burden. Advice around legal and financial issues is usually helpful. Careful consideration of environmental changes to cope with abnormal behaviors is essential. Most compounds that have been used to treat dementia of the Alzheimer's disease type are not effective in FTD, and cholinesterase inhibitors and memantine should be avoided. Although the data are scant, there is some evidence that antidepressants and second-generation antipsychotics may help individual patients.Fil: Magrath Guimet, Nahuel. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina. University of California; Estados Unidos.Fil: Zapata-Restrepo, Lina M. University of California; Estados Unidos. Pontifical Xaverian University Cali; Colombia.Fil: Miller, Bruce L. University of California. Weill Institute for Neuroscience. Department of Neurology, Memory and Aging Center; Estados Unidos
Impact of an intergenerational training program in the use of information and communication technologies for older adults who receive cognitive intervention in the context of a Covid‐19 pandemic: Preliminary results
No full textBackground
Worldwide, the Covid-19 pandemic impacted on professionals and patients receiving cognitive rehabilitation (CR) forcing them to instrument assistance programs through tele-neuropsychology. Many of those who receive CR are older adults who lack the necessary technological knowledge to carry out CR through teleneuropsychology. The present study aims to evaluate the impact of a training program on technological tools, carried out by high school students, for older adults who received CR through teleneuropsychology.
Method
Design: Pre-post, longitudinal intervention study. Participants: Older adults (n=13) (73.34 +/- 5.07 years old) and Students (n=20) (16.14 +/-1.33 years old). The intervention consisted of a 4 week program for technological training. Participants were assessed at the beginning and the end of the program which consists in two training sessions of 45 minutes each. Instruments: Older adults were assessed with: Questionnaire of Social Demographic Data and Use of Technology (built ad. Hoc.), Functional Assessment Questionnaire, MOS Scale of Social Support, Try Your Memory Test (TYM). Students were assessed with: Basic data questionnaire and Negative stereotypes questionnaire towards old age (CENVE).
Result
When comparing pre and post-tests, statistically significant differences were found in the assessed variables. In the older adult group, a significant difference was found in the use of zoom platform (z= -2.97, p= .003). In the student group, a statistically significant difference was found regarding the beliefs about aging (z=-2,53 p= .01).
Conclusion
These results add evidence regarding the importance of applying technology training programs for older adults. Intergenerational programs are a promising alternative where both parts can benefit: older adults through the incorporation of meaningful technological tools for their daily lives, and young participants taking the opportunity to provide community service and to deconstruct negative prejudices and beliefs towards old age and its consequences.Fil: Feldberg, Carolina. Ineba; Argentina.Fil: Crivelli, Lucia. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.Fil: Tartaglini, María Florencia. Ineba; Argentina.Fil: Martin, María Eugenia. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.Fil: Moya Garcia, Lydia. Ineba; Argentina.Fil: Hermida, Paula Daniela. Instituto de Investigaciones Cardiológicas; Argentina.Fil: Natalia, Irrazabal. Universidad de Palermo; Argentina.Fil: Somale, María Verónica. Ineba; Argentina.Fil: Sevlever, Gustavo Emilio. Fleni. Departamento de Neuropatología y Biología Molecular; Argentina.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Protocol for morphometric analysis of neurons derived from human pluripotent stem cells
No full textThe analysis of morphological features of neurons derived from human pluripotent stem cells (hPSCs) is important to describe neuronal phenotypes and changes observed throughout development. Using free and easily accessible tools, we describe a protocol for the morphometric quantification of hPSCs-derived neurons in two- and three-dimensions in vitro cultures. We detail the analysis of soma area and main and secondary dendrites lengths of GFP-transfected neurons and the measurement of area and perimeter of immunostained neurospheres.Fil: Mucci, Sofía. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina.Fil: Rodriguez-Varela, María Soledad. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina.Fil: Isaja, Luciana. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina.Fil: Ferriol-Laffouillere, Sofía Luján. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina.Fil: Sevlever, Gustavo Emilio. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina. Fleni. Departamento de Neuropatología y Biología Molecular. Laboratorio de Enfermedades Neurodegenerativas; Argentina.Fil: Scassa, María Elida. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina.Fil: SRomorini, Leonardo. Fleni. Laboratorios de Investigación Aplicada en Neurociencias; Argentina