GRAZIELA JORGE POLIDO
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- Cognitive performance of children with 5q-spinal muscular atrophy: a systematic review(2018) POLIDO, G.; MIRANDA, M.; CARVAS JUNIOR, N.; CAROMANO, F.; REED, U.; ZANOTELI, E.; VOOS, M.
- Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience(2021) MENDONCA, Rodrigo H.; POLIDO, Graziela J.; MATSUI, Ciro; SILVA, Andre M. S.; SOLLA, Davi J. F.; REED, Umbertina C.; ZANOTELI, EdmarBackground: Spinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability. Objective: This study aims to report the evaluation of nusinersen, an antisense oligonucleotide, on motor function in patients with SMA types 2 and 3. Methods: This single-center retrospective observational study assessed nusinersen therapy outcomes, measured by HSMFSE or CHOP-INTEND scales, in patients with SMA types 2 and 3, compared to untreated patients, for at least 24 months. Results: A total of 41 patients with SMA types 2 and 3 under nusinersen treatment were included. In 30 treated patients (mean age: 10.6 years; 14 with SMA type 2), the mean change in HFMSE scores was +1.47 points (SD = 0.4) and +1.60 points (SD = 0.6) after 12 and 24 months of treatment, respectively. In contrast, the control group (N= 37) (mean age: 10.2 years; 20 with SMA type 2) presented a mean change of -1.71 points (SD = 0.02) and -3.93 points (SD = 0.55) after 12 and 24 months of follow-up, respectively. The most severe patients under nusinersen treatment (N= 11) showed a change of +2.37 (SD = 1.13) on the CHOP-INTEND scale after 12 months of follow-up. Disease duration at the beginning of treatment was the main predictor of functional improvement. Despite functional gain and motor stabilization, treatment with nusinersen did not prevent the progression of scoliosis. Conclusions: Our data provide evidence for the long-term safety and efficacy of nusinersen use in the treatment of later-onset SMA, and patients with shorter disease duration showed better response to treatment.
- Motor unit number index (MUNIX) in children and adults with 5q-spinal muscular atrophy: Variability and clinical correlations(2021) MENDONCA, Rodrigo Holanda; MACHADO, Ligia Maria Sotero; HEISE, Carlos Otto; POLIDO, Graziela Jorge; MATSUI, Ciro; SILVA, Andre Macedo Serafim; REED, Umbertina Conti; ZANOTELI, EdmarSpinal 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. The patients underwent compound motor action potential (CMAP) and MUNIX studies of the right abductor pollicis brevis, abductor digiti minimi and tibialis anterior (TA) muscles. Age-matched healthy controls (n = 20) were enrolled to obtain normative CMAP and MUNIX values from the same muscles. Compared to healthy controls, SMA patients showed significant reductions in MUNIX values among all muscles studied, whereas CMAP showed reductions only in the weaker muscles (abductor digiti minimi and TA). MUNIX variability was significantly higher in the SMA group than in the control group. MUNIX variability in TA correlated with CMAP variability. Motor functional scores correlated with TA MUNIX. The MUNIX study is feasible in later-onset SMA patients, and TA MUNIX values correlate with disease severity in patients with mild motor impairment.
- Matching pairs difficulty in children with spinal muscular atrophy type I(2017) POLIDO, Graziela Jorge; BARBOSA, Alessandra Ferreira; MORIMOTO, Carlos Hitoshi; CAROMANO, Fatima Aparecida; FAVERO, Francis Meire; ZANOTELI, Edmar; REED, Umbertina Conti; VOOS, Mariana CallilThis 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 +/- 2.3 yrs; 9 boys, 3 girls) and control sex-, age-matched children (n = 12; 6.2 +/- 2.6 yrs) performed four pair-matching figure, number and letter tasks. The eye tracker detected eye movements. SMA-I children were assessed with CHOP INTEND, Pediatric Evaluation of Disability Inventory, and Pediatric Quality of Life Inventory. Analysis of variance showed that SMA-I children had a lower percentage of correct answers and longer timed performance compared to controls (p < 0.05). Pediatric Evaluation of Disability Inventory score (social function domain) was correlated to the percentage of correct answers on the pair-matching tasks on task 1 (r = 0.81; p = 0.001) and task 2 (r = 0.66; p = 0.020). Pair-matching performance of SMA-I children was poorer than the performance of control children. There was a relationship between pair-matching performance and social function. The restricted interaction with the environment, due to severe paralysis and poor verbal communication, is associated with cognitive difficulties in SMA-I children. The eye tracker was helpful in cognitive assessment of SMA-I children, who responded to the cognitive tests with eye movements.
- Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy(2023) MOREIRA, Ana Lucila; MENDONCA, Rodrigo Holanda; POLIDO, Graziela Jorge; OLIVEIRA, Marcos Castello Barbosa; SILVA, Andre Macedo Serafim; ZANOTELI, EdmarObjective: 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 ultra-sound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status. Results: Compared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls. Conclusion: Ultrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm.
- Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen(2021) MENDONCA, Rodrigo de Holanda; POLIDO, Graziela Jorge; MATSUI JR., Ciro; SOLLA, Davi Jorge Fontoura; REED, Umbertina Conti; ZANOTELI, EdmarBackground: Spinal 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. Methods: This was a longitudinal and observational study to assess the outcomes of nusinersen therapy in SMA1 patients using the HINE-2 and CHOP-INTEND scales. Results: Twenty-one SMA1 patients (52.4% males) were included; the mean age at first symptoms was 2.7 months (SD = +/- 1.5), and the mean disease duration at first dose was 34.1 (SD = +/- 36.0) months. During posttreatment, the mean gain on the CHOP-INTEND was 4.9, 5.9, 6.6, and 14 points after 6, 12, 18, and 24 months, respectively. Starting medication with a disease duration of less than 12 months and/or without invasive ventilation were predictors of response on CHOP-INTEND. Of the patients, 28.6% acquired a motor milestone or gained at least three points on the HINE-2. The daily time for ventilatory support was reduced after treatment in most of the patients with noninvasive ventilation at baseline. No change in the daytime use of ventilation was observed in most of the patients using invasive ventilation at baseline. Conclusions: Nusinersen produces improvements in motor and respiratory functions, even in long-term SMA1 patients. However, patients under invasive ventilation at the beginning of the treatment experience little benefit.