Publications by authors named "Graziela J Polido"
Article Synopsis
- Spinal muscular atrophy (SMA) is a severe neuromuscular disorder leading to muscle weakness and reduced life expectancy, with onasemnogene abeparvovec being the first approved gene therapy for it.
- A study involving 41 SMA patients (mostly type 1) showed significant motor function improvement after gene therapy, with nearly half of the type 1 patients gaining the ability to sit independently.
- Adverse effects were common, including liver enzyme elevation in 70.7% of patients and thrombocytopenia in 31.7%, while the presence of previous nusinersen treatment didn't further enhance motor function post-gene therapy.
Objective: We investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression.
Methods: We examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age- and sex-matched control individuals using B-mode ultrasound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only.
Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. The motor unit number index (MUNIX) is a biomarker used to assess loss of motor units in later-onset SMA patients. Twenty SMA patients (SMA types 3 and 4), aged between 7 and 41 years, were clinically evaluated through the Hammersmith Motor Functional Scale Expanded and the Spinal Muscular Atrophy-Functional Rating Scale.
View Article and Find Full Text PDFManaging intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery.
Arq Neuropsiquiatr
February 2021
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.
View Article and Find Full Text PDFArticle Synopsis
- Spinal muscular atrophy (SMA) is a disease that causes muscle weakness and disability, and this study assesses the impact of nusinersen, an antisense oligonucleotide, on motor function in patients with SMA types 2 and 3.
- The research involved 41 patients receiving nusinersen and showed significant improvements in motor function scores over 12 and 24 months, compared to a control group that experienced declines in these scores.
- While nusinersen enhanced motor function, it did not stop the progression of scoliosis, and better treatment outcomes were observed in patients with a shorter disease duration.
Article Synopsis
- The study aimed to analyze the genetic variations in the survival motor neuron 1 (SMN1) gene among Brazilian patients with spinal muscular atrophy (SMA) and to connect these variants with disease severity.
- Out of 450 patients, the majority (89.3%) had a common deletion in exon 7, while others had a mix of this deletion and additional point mutations, with certain variants being more prevalent in compound heterozygous cases.
- The research concluded that specific variants (c.460C>T and c.5C>G) were linked to milder disease forms, and that the copy number of the gene did not consistently predict disease severity among these patients.*
Unlabelled: 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 muscular atrophy" and "cognition").
This study aimed to investigate the performance on pair-matching tasks in children with Spinal Muscular Atrophy type I (SMA-I) and the relationship between this performance and motor function, functional independence and quality of life. SMA-I (n = 12; 6.0 ± 2.
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