Encontrados 25 documentos, a visualizar página 1 de 3
Managing intrathecal administration of nusinersen in adolescents and adults wit...
Mendonça,Rodrigo de Holanda; Fernandes,Hermann dos Santos; Pinto,Rafael Barbéro Schimmelpfeng; Matsui Júnior,Ciro; Polido,Graziela JorgeABSTRACT Background: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity. Nusinersen is an antisense oligonucleotide that increases SMN protein level and is administrated by frequent intrathecal lumbar injections. Thus, spinal deformities and previous spinal surgery are important challenges for drug delivery in SMA. Objectiv...
Cognitive performance of children with spinal muscular atrophy: A systematic re...
Polido,Graziela Jorge; Miranda,Mariana Mangini Vaz de; Carvas Junior,Nelson; Mendonça,Rodrigo de Holanda; Caromano,Fátima AparecidaABSTRACT Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant. Objective: To evaluate the evidence about cognitive outcomes in spinal muscular atrophy (SMA). Methods: Searches on the PUBMED/Medline, Web of Knowledge and Scielo databases retrieved 26 studies (1989 to 2019, descriptors “spinal mus...
Therapeutic advances in 5q-linked spinal muscular atrophy
Reed,Umbertina Conti; Zanoteli,EdmarABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. Howev...
Translation and validation of the Life Satisfaction Index for Adolescents scale...
Simon,Valdecir Antonio; Zanoteli,Edmar; Simon,Margarete Andreozzi Vaz Pereira; Resende,Maria Bernadete Dutra de; Reed,Umbertina ContiABSTRACT Objective To validate the Life Satisfaction Index for Adolescents (LSI-A) scale, parent version and patient version, for Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and limb-girdle muscular dystrophy (LGMD). Methods The parent version of the instrument was divided into Groups A, B, C and D; and the patient version, divided into B, C and D. For the statistical calculation, the follo...
Validation of the Expression and Emotion Scale for Children with attention defi...
Simon,Margarete Andreozzi Vaz Pereira; Reed,Umbertina Conti; Vaughan,Brigette; Simon,Valdecir Antonio; Casella,Erasmo BarbanteABSTRACT Objective To validate the parent-rated Expression and Emotion Scale for Children (EESC) for patients with attention-deficit/hyperactivity disorder (ADHD). Methods The EESC was applied to parents of children with and without ADHD. The children were divided into age groups: Group A, between six and eight years old; Group B, between nine and 11 years old; and Group C, between 12 and 15 years old. The vali...
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy
Abath Neto,Osorio; Martins,Cristiane de Araújo; Carvalho,Mary; Chadi,Gerson; Seitz,Katia Werneck; Oliveira,Acary Souza Bulle; Reed,Umbertina ContiCentronuclear myopathy (CNM) is a rare congenital muscle disease characterized by fibers with prominent centralized nuclei in muscle biopsies. The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1. Here we analyzed 18 sporadic...
Limb-girdle muscular dystrophy type 2A in Brazilian children
Albuquerque,Marco Antônio Veloso de; Abath Neto,Osório; Silva,Francisco Marcos Alencar da; Zanoteli,Edmar; Reed,Umbertina ContiABSTRACT Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. Objective To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. Method We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. Results All patients were female (thr...
Air stacking: effects on pulmonary function in patients with spinal muscular at...
Marques,Tanyse Bahia Carvalho; Neves,Juliana de Carvalho; Portes,Leslie Andrews; Salge,João Marcos; Zanoteli,Edmar; Reed,Umbertina ContiOBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD). The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between sp...
Sequential motor task (Luria's Fist-Edge-Palm Test) in children with benign foc...
Miziara,Carmen Silvia Molleis Galego; Manreza,Maria Luiza Giraldes de; Mansur,Leticia; Reed,Umbertina Conti; Buchpiguel,Carlos AlbertoThis study evaluated the sequential motor manual actions in children with benign focal epilepsy of childhood with centrotemporal spikes (BECTS) and compares the results with matched control group, through the application of Luria's fist-edge-palm test. The children with BECTS underwent interictal single photon emission computed tomography (SPECT) and School Performance Test (SPT). Significant difference occurre...
Duchenne muscular dystrophy: quality of life among 95 patients evaluated using ...
Simon,Valdecir A.; Resende,Maria Bernardete Dutra; Simon,Margarete A.V.P.; Zanoteli,Edmar; Reed,Umbertina ContiThe purpose of this study was to evaluate the quality of life (QoL) of patients with Duchenne muscular dystrophy (DMD) in different stages of the disease, by means of the Life Satisfaction Index for Adolescents (LSI-A). The practicality of this scale was also verified. The LSI-A was applied four times to 95 patients with DMD who were undergoing steroid therapy, at three-month intervals. The patients were divide...