Repositorio Institucional Fleni
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The 18-cm Thoracic-Height Threshold and Pulmonary Function in Non-Neuromuscular Early-Onset Scoliosis: A Reassessment
No full textBackground: Thoracic spine height is cited as a crucial outcome measure in the treatment of early-onset scoliosis (EOS) because of its reported relationship to pulmonary function tests (PFTs). An 18-cm threshold has been proposed, although this single parameter might be overly simplistic for cases of different etiologies and deformity magnitude. We aimed to reevaluate pulmonary function in patients undergoing corrective surgery, assessing the role of residual scoliosis as well as spine elongation.
Methods: Patients undergoing EOS correction with a minimum of 5 years of follow-up since initial treatment were evaluated. Standard spirometry (forced vital capacity [FVC], forced expiratory volume in 1 second [FEV1]) was correlated to deformity magnitude and T1-T12 height. Patients were compared by age at first surgery (18 cm), and percentage of predicted pulmonary function (<60% or ≥60%).
Results: Twenty-nine patients (15 congenital, 11 syndromic, and 3 idiopathic cases) were tested at a mean of 8.5 years following initial surgery. Twenty-two patients (mean initial age, 4.8 years) had growth-sparing instrumentation, and 7 patients (age, 5.1 years) had definitive fusion performed. Age at initial surgery was not associated with a difference in PFT results at the time of follow-up, and both age groups had ominously low percentages of predicted pulmonary-function volumes (50% to 55%). Only 18 of the 29 patients achieved a T1-T12 height of >18 cm. Those with a thoracic height of ≤18 cm had similar percentage-of-predicted spirometry results at the time of follow-up as those with greater thoracic height, possibly because of increased deformity correction. Only 14 of 29 patients had spirometry of ≥60% of predicted volume at the time of follow-up. These 14 had slightly smaller curves and slightly greater T1-T12 heights but significantly better spirometry results than the 15 subjects with 18 cm, spirometry did correlate with thoracic height, especially when residual deformity was ≥60°.
Conclusions: Regardless of thoracic height of ≤18 or >18 cm, with residual curves of >50o, pulmonary function was ominously low in fully half of the patients, raising doubt about the value of this threshold as an EOS outcome parameter.Fil: Johnston, Charles E. Texas Scottish Rite Hospital for Children; Estados Unidos.Fil: Karol, Lori A. Texas Scottish Rite Hospital for Children; Estados Unidos.Fil: Thornberg, David. Texas Scottish Rite Hospital for Children; Estados Unidos.Fil: Jo, Chanhee. Texas Scottish Rite Hospital for Children; Estados Unidos.Fil: Eamara, Pablo. Fleni. Servicio de Neuroortopedia; Argentina
Cardiac Involvement in Movement Disorders
No full textBackground
Several conditions represented mainly by movement disorders are associated with cardiac disease, which can be overlooked in clinical practice in the context of a prominent primary neurological disorder.
Objectives
To review neurological conditions that combine movement disorders and primary cardiac involvement.
Methods
A comprehensive and structured literature search following the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses criteria was conducted to identify disorders combining movement disorders and cardiac disease.
Results
Some movement disorders are commonly or prominently associated with cardiac disease. Neurological and cardiac symptoms may share underlying physiopathological mechanisms in diseases, such as Friedreichʼs ataxia and Wilsonʼs disease, and in certain metabolic disorders, including Refsum disease, Gaucher disease, a congenital disorder of glycosylation, or cerebrotendinous xanthomatosis. In certain conditions, such as Sydenhamʼs chorea or dilated cardiomyopathy with ataxia syndrome (ATX‐DNAJC19), heart involvement can present early in the course of disease, whereas in others such as Friedreichʼs ataxia or Refsum disease, cardiac symptoms tend to present in later stages. In another 68 acquired or inherited conditions, cardiac involvement or movement disorders are seldom reported.
Conclusions
As cardiac disease is part of the phenotypic spectrum of several movement disorders, heart involvement should be carefully investigated and increased awareness of this association encouraged as it may represent a leading cause of morbidity and mortality.Fil: Rossi, Malco. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Wainsztein, Néstor. Fleni. Departamento de Medicina Interna; Argentina.Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina
Involuntary moaning in a Hispanic family with eight affected members
No full textInvoluntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.Fil: Gisatulin, Maria. University of Lübeck; Alemania.Fil: Rossi, Malco. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina; Argentina.Fil: Perandones, Claudia. Ministerio de Salud. Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos Malbrán”; Argentina.Fil: Klein, Christine. University of Lübeck; Alemania.Fil: Lohmann, Katja. University of Lübeck; Alemania.Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas de Argentina; Argentina. Pontificia Universidad Católica Argentina; Argentina
Bundle-specific associations between white matter microstructure and Ab and tau pathology in preclinical Alzheimer’s disease
No full textBeta-amyloid (Ab) and tau proteins, the pathological hallmarks of Alzheimer’s disease
(AD), are believed to spread through connected regions of the brain. Combining diffusion imaging
and positron emission tomography, we investigated associations between white matter
microstructure specifically in bundles connecting regions where Ab or tau accumulates and
pathology. We focused on free-water-corrected diffusion measures in the anterior cingulum,
posterior cingulum, and uncinate fasciculus in cognitively normal older adults at risk of sporadic AD
and presymptomatic mutation carriers of autosomal dominant AD. In Ab-positive or tau-positive
groups, lower tissue fractional anisotropy and higher mean diffusivity related to greater Ab and tau
burden in both cohorts. Associations were found in the posterior cingulum and uncinate fasciculus
in preclinical sporadic AD, and in the anterior and posterior cingulum in presymptomatic mutation
carriers. These results suggest that microstructural alterations accompany pathological
accumulation as early as the preclinical stage of both sporadic and autosomal dominant AD.Fil: Pichet Binette, Alexa. McGill University; Canada.Fil: Theaud, Guillaume. Université de Sherbrooke; Canada.Fil: Rheault, François. Vanderbilt University; Estados Unidos.Fil: Roy, Maggie. Université de Sherbrooke; Canadá.Fil: Collins, D. Louis. Montreal Neurological Institute; Canadá.Fil: Levin, Johannes. Ludwig-Maximilians-Universität München; Alemania.Fil: Mori, Hiroshi. Osaka City University Medical School; Japón.Fil: Lee, Hae Hong. University of Ulsan College of Medicine; Corea.Fil: Rhys Farlow, Martin.Fil: Schofield, Peter. Neuroscience Research Australia; Australia.Fil: Chhatwal, Jasmeer P. Harvard Medical School; Estados Unidos.Fil: Masters, Colin L. University of Melbourne; Australia.Fil: Benzinger, Tammie L.S. Washington University School of Medicine; Estados Unidos.Fil: Morris, John. Washington University School of Medicine; Estados Unidos.Fil: Bateman, Randall J. Washington University School of Medicine; Estados Unidos.Fil: Breitner, John C.S. McGill University; Canadá.Fil: Poirier, Judes. McGill University; Canadá.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Multiple sclerosis care units in Latin America: Consensus recommendations about its objectives and functioning implementation
No full textObjective
Currently, there are several reasons to promote worldwide the concept of multiple sclerosis care units (MSCU) for a better management of affected patients. Ideally, the MSCU should have some human and technical resources that distinguish and improve the care of affected patients; however, local, and regional aspects should be considered when recommending how these units should operate. The objective of these consensus recommendations was to review how MSCU should work in Latin America to improve long-term outcomes in MS patients.
Methods
A panel of neurology experts from Latin America dedicated to the diagnosis and care of MS patients gathered virtually during 2019 and 2020 to carry out a consensus recommendation about objectives and functioning implementation of MSCU in Latin America. To achieve consensus, the methodology of “formal consensus-RAND/UCLA method” was used.
Results
Recommendations focused on the objectives, human and technical resources, and the general functioning that MSCU should have in Latin America.
Conclusions
The recommendations of these consensus guidelines attempt to optimize the health care and management of MS patients by setting how MSCU should work in our region.Fil: Cristiano, Edgardo. Centro de Esclerosis Múltiple de Buenos Aires; Argentina.Fil: Abad, Patricio. Hospital Metropolitano de Quito; Ecuador.Fil: Becker, Jefferson. Pontifical Catholic University of Rio Grande do Sul; Brasil.Fil: Carrá, Adriana. Hospital Británico; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; ArgentinaFil: Flores, José. Instituto Nacional de Neurología y Neurocirugía; México.Fil: Fruns, Manuel. Clinica Las Condes; Chile.Fil: Garcea, Orlando. Hospital Ramos Mejía; Argentina.Fil: Garcia Bónitto, Juan. Clinica de Marly Bogota; Colombia.Fil: Gracia, Fernando. Universidad Interamericana de Panamá, Panamá.Fil: Hamuy, Fernando. Departamento de Neurología; Paraguay.Fil: Navas, Carlos. Clínica Enfermedad Desmielinizante Clínica Universitaria Colombia; Colombia.Fil: Patrucco, Liliana. Hospital Italiano de Buenos Aires; Argentina.Fil: Rivera, Víctor. Baylor College of Medicine; Estados Unidos.Fil: Velazquez, Merced. Unidad de Investigación en Salud de Chihuahua; México.Fil: Rojas, Juan Ignacio. Centro de Esclerosis Múltiple de Buenos Aires; Argentina
Recuperación funcional en las actividades de la vida diaria en niños y adolescentes con lesión medular durante un programa de rehabilitación
No full textLa lesión medular es un daño en la médula espinal con efectos profundos y globales. Algunos
estudios reportan la recuperación funcional en niños y adolescentes con lesión medular tomando
como parámetro el puntaje total de la versión pediátrica de la Medida de Independencia Funcional, sin discriminar recuperación por subdominios. El presente estudio, que deriva de un trabajo
previo1
, tiene como propósito estimar el nivel de recuperación funcional global y de los subdominios motores de la evaluación y determinar si la recuperación global y de cada subdominio se
relaciona con edad, sexo y características lesionales. El trabajo es retrospectivo, longitudinal y
correlacional. Incluye 39 pacientes, de entre 8 y 18 años, de un programa de rehabilitación entre
2005 y 2016 en Fleni, Argentina. La ganancia en el coeficiente de independencia promedio fue
del 34,04% (P < 0,0001). Los subdominios con mayor recuperación fueron Transferencias y Locomoción. Mientras que tipo y nivel neurológico de la lesión se asociaron significativamente con la
recuperación funcional motora, edad y sexo no se asociaron con el puntaje motor. Este trabajo
puede ser de utilidad para el planteamiento de objetivos, en relación a los resultados esperables
en la recuperación funcional, durante el proceso de rehabilitación pediátrica.Fil: Paulenas, Ezequiel. Fleni. Centro de Rehabilitación Adultos CETNA. Servicio de Terapia Ocupacional; Argentina.Fil: Montilla, Silvina. Universidad Nacional de Quilmes; Argentina
Effect of Calcium Fortified Foods on Health Outcomes: A Systematic Review and Meta-Analysis
Full text linkCalcium supplementation and fortification are strategies widely used to prevent adverse outcome in population with low-calcium intake which is highly frequent in low-income settings. We aimed to determine the effectiveness and cost-effectiveness of calcium fortified foods on calcium intake and related health, or economic outcomes. We performed a systematic review and meta-analysis involving participants of any age or gender, drawn from the general population. We searched PubMed, Agricola, EMBASE, CINAHL, Global Health, EconLit, the FAO website and Google until June 2019, without language restrictions. Pair of reviewers independently selected, extracted data and assessed the risk of bias of included studies using Covidence software. Disagreements were resolved by consensus. We performed meta-analyses using RevMan 5.4 and subgroup analyses by study design, age group, and fortification levels. We included 20 studies of which 15 were randomized controlled trials (RCTs), three were non-randomised studies and two were economic evaluations. Most RCTs had high risk of bias on randomization or blinding. Most represented groups were women and children from 1 to 72 months, most common intervention vehicles were milk and bakery products with a fortification levels between 96 and 1200 mg per 100 g of food. Calcium intake increased in the intervention groups between 460 mg (children) and 1200 mg (postmenopausal women). Most marked effects were seen in children. Compared to controls, height increased 0.83 cm (95% CI 0.00; 1.65), plasma parathyroid hormone decreased −1.51 pmol/L, (−2.37; −0.65), urine:calcium creatinine ratio decreased −0.05, (−0.07; −0.03), femoral neck and hip bone mineral density increased 0.02 g/cm2 (0.01; 0.04) and 0.03 g/cm2 (0.00; 0.06), respectively. The largest cost savings (43%) reported from calcium fortification programs came from prevented hip fractures in older women from Germany. Our study highlights that calcium fortification leads to a higher calcium intake, small benefits in children’s height and bone health and also important evidence gaps for other outcomes and populations that could be solved with high quality experimental or quasi-experimental studies in relevant groups, especially as some evidence of calcium supplementation show controversial results on the bone health benefit on older adults.Fil: Cormick, Gabriela. Instituto de Efectividad Clínica y Sanitaria; Argentina. Universidad Nacional de La Matanza; Argentina.Fil: Betran, Ana Pilar. Organización Mundial de la Salud; Suiza.Fil: Romero, Iris Beatriz. Instituto de Efectividad Clínica y Sanitaria; Argentina.Fil: Cormick, Maria Sol. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Belizán, José M. Instituto de Efectividad Clínica y Sanitaria; Argentina.Fil: Bardach, Ariel. Instituto de Efectividad Clínica y Sanitaria; Argentina.Fil: Ciapponi, Agustín. Instituto de Efectividad Clínica y Sanitaria; Argentina
Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS
No full textIntroduction
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, clinically heterogeneous disease with spontaneous (wild-type) and hereditary (ATTRv) forms. The Glu89Gln variant is primarily associated with cardiomyopathy and prevalent in Italy and Bulgaria. The objective of this analysis was to better understand the profile of patients with ATTRv Glu89Gln amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS).
Methods
THAOS is an ongoing, global, longitudinal, observational survey of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers with mutations in the transthyretin gene. Demographic and clinical characteristics of all symptomatic patients with the ATTRv Glu89Gln variant enrolled in THAOS are described (data cutoff, January 6, 2020).
Results
There were 91 patients with ATTRv Glu89Gln amyloidosis with the majority from Bulgaria (n = 53) or Italy (n = 29). All patients were Caucasian and 50.5% were male. Patients from Bulgaria had a mean (standard deviation) age at enrollment of 57.1 (8.2) years, and duration of symptoms of 8.6 (9.6) years, compared with 54.8 (8.6) and 5.0 (4.1) years in Italy. In Bulgaria, 39.6% of patients were of a predominantly cardiac phenotype, 18.9% predominantly neurologic, and 41.5% mixed. In Italy, 3.4% of patients were predominantly cardiac, 62.1% predominantly neurologic, and 34.5% mixed.
Conclusions
The majority of patients with ATTRv Glu89Gln amyloidosis in THAOS are from Bulgaria or Italy. There were notable phenotypic differences, with the cardiac phenotype more common in Bulgaria and the neurologic phenotype more common in Italy. Over one-third of patients had a mixed phenotype, suggesting a potential role of multiple genetic and/or environmental factors and the need for comprehensive assessment of all patients.Fil: Gentile, Luca. University of Messina; Italia.Fil: Tournev, Ivailo. Sofia Medical University; Bulgario.Fil: Amass, Leslie. Pfizer Inc.; Estados Unidos.Fil: Chapman, Doug. Pfizer Inc.; Estados Unidos.Fil: Mazzeo, Anna. Department of Clinical and Experimental Medicine; Italia.Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina
Creative minds and neurosciences…
No full textCreativity is the ability to generate original ideas in the arts or sciences, leaving traditional stereotypes behind, ultimately introducing innovation to the social context in which they arise. It has been associated with "divergent thinking" which prioritizes the generation of multiple solutions, different from traditional ones. Some authors have observed creative individuals present higher incidence of affective disorders, possibly related to hypomania or disinhibition. Similarly, “creativity” has been described in patients with frontotemporal dementia, a brain region linked with creativity on fMRI. Creativity is one of the most salient characteristics that human beings possess.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Seasonal variation in attacks of neuromyelitis optica spectrum disorders and multiple sclerosis: Evaluation of 794 attacks from a nationwide registry in Argentina
No full textBackground: Identification of triggers that potentially instigate attacks in neuromyelitis optica spectrum disorders (NMOSD) and multiple sclerosis (MS) has remained challenging. We aimed to analyze the seasonality of NMOSD and MS attacks in an Argentinean cohort seeking differences between the two disorders.
Methods: A retrospective study was conducted in a cohort of NMOSD and MS patients followed in specialized centers from Argentina and enrolled in RelevarEM, a nationwide, longitudinal, observational, non-mandatory registry of MS/NMOSD patients. Patients with complete relapse data (date, month and year) at onset and during follow-up were included. Attack counts were analyzed by month using a Poisson regression model with the median monthly attack count used as reference.
Results: A total of 551 patients (431 MS and 120 NMOSD), experiencing 236 NMOSD-related attacks and 558 MS-related attacks were enrolled. The mean age at disease onset in NMOSD was 39.5 ± 5.8 vs. 31.2 ± 9.6 years in MS (p < 0.01). Mean follow-up time was 6.1 ± 3.0 vs. 7.4 ± 2.4 years (p < 0.01), respectively. Most of the included patients were female in both groups (79% vs. 60%, p < 0.01). We found a peak of number of attacks in June (NMOSD: 28 attacks (11.8%) vs MS: 33 attacks (5.9%), incidence rate ratio 1.82, 95%CI 1.15-2.12, p = 0.03), but no differences were found across the months in both disorders when evaluated separately. Strikingly, we observed a significant difference in the incidence rate ratio of attacks during the winter season when comparing NMOSD vs. MS (NMOSD: 75 attacks (31.7%) vs MS: 96 attacks (17.2%), incidence rate ratio 1.82, 95%CI 1.21-2.01, p = 0.02) after applying Poisson regression model. Similar results were observed when comparing the seropositive NMOSD (n = 75) subgroup vs. MS.
Conclusions: Lack of seasonal variation in MS and NMOSD attacks was observed when evaluated separately. Future epidemiological studies about the effect of different environmental factors on MS and NMOSD attacks should be evaluated prospectively in Latin America population.Fil: Carnero Contentti, Edgar. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: López, Pablo Adrián. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: Pettinicchi, Juan Pablo. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: Criniti, Juan. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: Pappolla, Agustín. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Miguez, Jimena. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Patrucco, Liliana. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Cristiano, Edgardo. Centro de esclerosis múltiple de Buenos Aires; Argentina.Fil: Liwacki, Susana. Clínica Universitaria Reina Fabiola. Servicio de Neurología; Argentina.Fil: Tkachuk, Verónica A. Hospital de Clínicas José de San Martín. Servicio de Neurología. Sección de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Balbuena Aguirre, María Eugenia. Hospital de Clínicas José de San Martín; Argentina.Fil: Vrech, Carlos. Sanatorio Allende. Departamento de Enfermedades Desmielinizantes; Argentina.Fil: Deri, Norma. Centro de Investigaciones Diabaid; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Marrodán, Mariano. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Ysrraelit, María Célica. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Leguizamon, Felisa. Hospital de Agudos Dr. Teodoro Álvarez; Argentina.Fil: Luetic, Geraldine. Hospital de Agudos Dr. Teodoro Álvarez; Argentina.Fil: Menichini, María L. Sanatorio Británico; Argentina.Fil: Tavolini, Darío. INECO; Argentina