Publications by authors named "Rodrigo de Holanda Mendonca"
Article Synopsis
- Inflammatory myopathy with mitochondrial pathology (IM-Mito) is a rare condition that may be a variant of Inclusion Body Myositis (IBM), with limited previous radiological studies.
- This study aimed to compare whole-body muscle MRI features in 14 IM-Mito patients and 10 IBM patients, assessing differences in muscle abnormalities.
- Findings indicated that both conditions showed similar imaging patterns, but differences, particularly in how the muscles were affected, leave uncertainty about whether IM-Mito and IBM are distinct or related diseases.
Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed to analyze the clinical features, morphology, and distribution of desmin aggregates in skeletal muscle biopsies of patients with desminopathy and to correlate these findings with the type and location of disease-causing DES variants.
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 PDFBackgroundSpinal muscular atrophy type 1 (SMA1) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival.Objective:To report the evaluation of the nusinersen, an antisense oligonucleotide, on the motor function of SMA1.MethodsThis was a longitudinal and observational study to assess the outcomes of nusinersen therapy in SMA1 patients using the HINE-2 and CHOP-INTEND scales.
View Article and Find Full Text PDFArticle 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").