MARIA BERNADETE DUTRA DE RESENDE
Índice h a partir de 2011
8
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
17 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 17
- Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid(2011) DARBAR, Illora A.; PLAGGERT, Paulo G.; RESENDE, Maria Bernadete D.; ZANOTELI, Edmar; REED, Umbertina C.Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior horn, resulting in hypotonia and muscle weakness. The disease is caused by deletion or mutation in the telomeric copy of SMN gene (SMN1) and clinical severity is in part determined by the copy number of the centromeric copy of the SMN gene (SMN2). The SMN2 mRNA lacks exon 7, resulting in a production of lower amounts of the full-length SMN protein. Knowledge of the molecular mechanism of diseases has led to the discovery of drugs capable of increasing SMN protein level through activation of SMN2 gene. One of these drugs is the valproic acid (VPA), a histone deacetylase inhibitor. Methods: Twenty-two patients with type II and III SMA, aged between 2 and 18 years, were treated with VPA and were evaluated five times during a one-year period using the Manual Muscle Test (Medical Research Council scale-MRC), the Hammersmith Functional Motor Scale (HFMS), and the Barthel Index. Results: After 12 months of therapy, the patients did not gain muscle strength. The group of children with SMA type II presented a significant gain in HFMS scores during the treatment. This improvement was not observed in the group of type III patients. The analysis of the HFMS scores during the treatment period in the groups of patients younger and older than 6 years of age did not show any significant result. There was an improvement of the daily activities at the end of the VPA treatment period. Conclusion: Treatment of SMA patients with VPA may be a potential alternative to alleviate the progression of the disease.
conferenceObject Ataluren preserves upper limb function in nmDMD patients from Study 041, a phase 3 placebo-controlled trial, and the STRIDE Registry(2022) MCDONALD, C.; MERCURI, E.; MUNTONI, F.; GORDISH-DRESSMAN, H.; MORGENROTH, L.; RESENDE, Dutra M. de; ZHOU, S.; NEEHARIKA, M.; HAGINOYA, K.; RAMOS-PLATT, L.; WILLIAMS, P.; PENEMATSA, V; CHOU, C.; LIN, M.; JOHNSON, S.; WERNER, C.; TRIFILLIS, P.- Motor function measure scale, steroid therapy and patients with Duchenne muscular dystrophy(2012) SILVA, Elaine C. da; MACHADO, Darlene L.; RESENDE, Maria B. D.; SILVA, Renata F.; ZANOTELI, Edmar; REED, Umbertina C.Objective: To assess the evolution of motor function in patients with Duchenne muscular dystrophy (DMD) treated with steroids (prednisolone or deflazacort) through the Motor Function Measure (MFM), which evaluates three dimensions of motor performance (D1, D2, D3). Methods: Thirty-three patients with DMD (22 ambulant, 6 non-ambulant and 5 who lost the capacity to walk during the period of the study) were assessed using the MFM scale six times over a period of 18 months. Results: All the motor functions remained stable for 14 months in all patients, except D1 for those who lost their walking ability. In ambulant patients, D2 (axial and proximal motor capacities) motor functions improved during six months; an improvement in D3 (distal motor capacity) was noted during the total follow-up. D1 (standing posture and transfers) and total score were useful to predict the loss of the ability to walk. Conclusions: The use of the MFM in DMD patients confirms the benefits of the steroid treatment for slowing the progression of the disease.
- Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives(2017) ARAUJO, Alexandra P. Q. C.; CARVALHO, Alzira A. S. de; CAVALCANTI, Eduardo B. U.; SAUTE, Jonas Alex M.; CARVALHO, Elmano; FRANCA JUNIOR, Marcondes C.; MARTINEZ, Alberto R. M.; NAVARRO, Monica de M. M.; NUCCI, Anamarli; RESENDE, Maria Bernadete D. de; GONCALVES, Marcus Vinicius M.; GURGEL-GIANNETTI, Juliana; SCOLA, Rosana H.; SOBREIRA, Claudia F. da R.; REED, Umbertina C.; ZANOTELI, EdmarSignificant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations. Our recommendations were divided in two parts. We present Part 1 here, where we describe the guideline methodology and overall disease concepts, and also provide recommendations on diagnosis, steroid therapy and new drug treatment perspectives for DMD. The main recommendations: 1) genetic testing in diagnostic suspicious cases should be the first line for diagnostic confirmation; 2) patients diagnosed with DMD should have steroids prescribed; 3) lack of published results for phase 3 clinical trials hinders, for now, the recommendation to use exon skipping or read-through agents.
- Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis(2023) MERCURI, Eugenio; OSORIO, Andres Nascimento; MUNTONI, Francesco; BUCCELLA, Filippo; DESGUERRE, Isabelle; KIRSCHNER, Janbernd; TULINIUS, Mar; RESENDE, Maria Bernadete Dutra de; MORGENROTH, Lauren P.; GORDISH-DRESSMAN, Heather; JOHNSON, Shelley; KRISTENSEN, Allan; WERNER, Christian; TRIFILLIS, Panayiota; HENRICSON, Erik K.; MCDONALD, Craig M.ObjectiveStrategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice. This updated interim report (data cut-off: January 31, 2022), describes STRIDE patient characteristics and ataluren safety data, as well as the effectiveness of ataluren plus standard of care (SoC) in STRIDE versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS).MethodsPatients are followed up from enrollment for at least 5 years or until study withdrawal. Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established predictors of disease progression.ResultsAs of January 31, 2022, 307 patients were enrolled from 14 countries. Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively. Mean (SD) duration of ataluren exposure was 1671 (56.8) days. Ataluren had a favorable safety profile; most treatment-emergent adverse events were mild or moderate and unrelated to ataluren. Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p < 0.0001) and age at decline to %-predicted forced vital capacity of < 60% and < 50% by 1.8 years (p = 0.0021) and 2.3 years (p = 0.0207), respectively, compared with SoC alone.ConclusionLong-term, real-world treatment with ataluren plus SoC delays several disease progression milestones in individuals with nmDMD. NCT02369731; registration date: February 24, 2015.
- Translation and validation of the Life Satisfaction Index for Adolescents scale with neuromuscular disorders: LSI-A Brazil(2017) SIMON, Valdecir Antonio; ZANOTELI, Edmar; SIMON, Margarete Andreozzi Vaz Pereira; RESENDE, Maria Bernadete Dutra de; REED, Umbertina ContiObjective: 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 following tests were used: Cronbach's alpha,ICC, Pearson and the ROC Curve. Results: The parent and patient versions of the instrument are presented, with the following results in the overall score, respectively: Cronbach's a, 0.87 and 0.89; reliability, r 0.98 and 0.97; reproducibility, ICC 0.69 and 0.80; sensitivity, 0.78 and 0.72; specificity, 0.5 and 0.69; and accuracy, 64% and 70.4%. Conclusion: According to the validity and reproducibility values, the LSI-A Brazil parent and patient versions, are clinically useful to assess quality of life in DMD, SMA or LGMD and may also be useful for other neuromuscular disorders.
- Quantitative Myasthenia Gravis Score: a Brazilian multicenter study for translation, cultural adaptation and validation(2017) OLIVEIRA, Ezequiel Fernandes; VALERIO, Berenice Cataldo Oliveira; CAVALCANTE, Valeria; URBANO, Jessica Julioti; SILVA, Anderson Soares; POLARO, Melissa Nunes; NACIF, Sergio Roberto; OLIVEIRA, Claudia Santos; RESENDES, Maria Bemadete Dutra; OLIVEIRA, Acary Souza Butte; OLIVEIRA, Luis Vicente FrancoObjective: To perform the translation, cross-cultural adaptation and validation of the Quantitative Myasthenia Gravis Score (QMGS) to Brazilian Portuguese in accordance with international ethical standards. Methods: The following steps were taken: (1) implementation of the translation protocol and transcultural adaptation, (2) validation of the adapted content, and (3) assessment of reliability.To check intraand inter-observer reproducibility, each patient underwent two interviews with interviewer-A and one with B. The QMGS was compared to the Myasthenia Gravis Composite Scale and Myasthenia-specific Quality of Life Questionnaire. Results: Our study group consisted of 30 patients, with a mean age of 47.6 +/- 11.4 years and a mean duration of illness of 11.33 +/- 8.49 years. Correlation between the QMGS and MGC was very strong (r = 0.928; p < 0.001) and substantial between the QMGS and MG-QOL 15 (r = 0.737; p < 0.001). Conclusion: The Brazilian Portuguese translation, and validation of the QMGS was successfully performed.
- Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort(2014) PASQUALIN, Livia M. A.; REED, Umbertina C.; COSTA, Thais V. M. M.; QUEDAS, Elisangela; ALBUQUERQUE, Marco A. V.; RESENDE, Maria B. D.; RUTKOWSKI, Anne; CHADI, Gerson; ZANOTELI, EdmarBACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.
- Duchenne muscular dystrophy and Duane's syndrome: a rare association(2013) PASQUALIN, Livia M. A.; ZANOTELI, Edmar; VELOSO, Marco A. M.; FRIZZO, Silvana K.; RESENDE, Maria B. D.; ABUCHAM-NETO, Julio Z.; POLATI, Mariza; CHADI, Gerson; REED, Umbertina C.
- Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis (vol 270, pg 3896, 2023)(2023) MERCURI, Eugenio; OSORIO, Andres Nascimento; MUNTONI, Francesco; BUCCELLA, Filippo; DESGUERRE, Isabelle; KIRSCHNER, Janbernd; TULINIUS, Mar P.; RESENDE, Maria Bernadete Dutra de; MORGENROTH, Lauren; GORDISH-DRESSMAN, Heather; JOHNSON, Shelley; KRISTENSEN, Allan; WERNER, Christian K.; TRIFILLIS, Panayiota M.; HENRICSON, Erik; MCDONALD, Craig