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
5 resultados
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- 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.
- 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
- Compensatory movements during functional activities in ambulatory children with Duchenne muscular dystrophy(2014) MARTINI, Joyce; VOOS, Mariana Callil; HUKUDA, Michele Emy; RESENDE, Maria Bernadete Dutra de; CAROMANO, Fatima AparecidaObjective: During the transitional phase (ambulatory to non-ambulatory), synergies characterize the evolution of Duchenne muscular dystrophy (DMD). This study was performed to describe and quantify compensatory movements while sitting down on/rising from the floor and climbing up/down steps. Method: Eighty videos (5 children x 4 assessments x 4 tasks) were recorded quarterly in the year prior to gait loss. Compensatory movements from the videos were registered based on the Functional Evaluation Scale for DMD. Results: The most frequently observed compensatory movements were upper limb support on lower limbs/floor/handrail during all the tasks and lumbar hyperlordosis, trunk support on handrail, equinus foot, increased base of support, non-alternated descent, and pauses while climbing up/down steps. Conclusion: Climbing up/down steps showed a higher number of compensatory movements than sitting down on/rising from the floor, which seemed to be lost before climbing up/down steps in ambulatory children with DMD.
- Hand Function in Muscular Dystrophies: Relationship Between Performance of Upper Limb and Jebsen-Taylor Tests(2017) ARTILHEIRO, Mariana C.; SA, Cristina dos Santos Cardoso de; FAVERO, Francis M.; WUTZKI, Hanna C.; RESENDE, Maria Bernadete Dutra de; CAROMANO, Fatima A.; VOOS, Mariana C.The aim of this study was to investigate the relationship between Performance of Upper Limb (PUL) and Jebsen-Taylor Test (JTT) to assess and monitor upper limb function progression in patients with muscular dystrophy. Thirty patients diagnosed with Duchenne muscular dystrophy, limb-girdle muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy Type 1, and fascioscapulohumeral dystrophy were submitted to the shoulder, elbow, and wrist domains of PUL, and to JTT subtests. Spearman tests investigated the relationships between PUL and JTT total scores and domains. Correlations were classified as strong (r >= 0.70), moderate (0.40 <= r < 0.70), or weak (r <= 0.40). There were strong correlations between the PUL and JTT total scores (r= -0.706). Although JTT measures time and PUL provides kinesiologic scores, these measures were related. Therefore, muscle synergies, which control the compensatory movements and motor functions involving mainly shoulder, elbow, wrist, and finger movements, are related to timed performance in patients with muscular dystrophies.