UMBERTINA CONTI REED
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Neurologia, Faculdade de Medicina - Docente
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/15 - Laboratório de Investigação em Neurologia, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
17 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 17
- Professor Luiz Alcides Manreza IN MEMORIAM(2012) BACHESCHI, Luiz Alberto; TARICCO, Mario Augusto; REED, Umbertina Conti
- Combining neuropsychological tests to improve the assessment of arithmetic difficulties in children with ADHD(2020) REZENDE, Angelo R. T.; PACHECO, Sandra P.; BRANCO, Sulamy C. C.; FERNANDES, Rosangela D. C.; BOLDRINI, Carla R.; DORIA FILHO, Ulysses; BAZAN, Paulo R.; AMARO JUNIOR, Edson; REED, Umbertina Conti; CASELLA, Erasmo BarbanteObjective: To compare the ways of evaluating arithmetic skills in Brazilian children with ADHD by combining three validated neuropsychological tests and determining whether they are sensitive to the methylphenidate treatment. Methods: Forty-two children (9-12 years old) participated in the present study: 20 were children with ADHD (DSM-IV) and 22 were age-matched controls. A classification criterion was used for each test separately and one,fortheir combination to detect the presence of arithmetic difficulties at two time points: baseline (time 1); and when children with ADHD were taking 0.3-0.5 mg/kg of methylphenidate (time 2). The study also assessed children's subtraction performance, combining parts of these tests. Results: Separately, the tests were only sensitive to differences between groups without medication. However, by combining the three neuropsychological tests, we observed a difference and detected a reduction in arithmetic difficulties associated with the methylphenidate treatment. The same effects were found in subtraction exercises, which require a borrowing procedure. Conclusions: The present study detected arithmetic difficulties in Brazilian children with ADHD and the effects of methylphenidate. Given this improvement in sensitivity, combining tests could be a promising alternative when working with limited samples.
- Therapeutic advances in 5q-linked spinal muscular atrophy(2018) REED, Umbertina Conti; ZANOTELI, EdmarSpinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies.
- 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.
- Clinical aspects of patients with sarcoglycanopathies under steroids therapy(2014) ALBUQUERQUE, Marco A. V.; ABATH-NETO, Osorio; MAXIMINO, Jessica R.; CHADI, Gerson; ZANOTELI, Edmar; REED, Umbertina C.Patients with sarcoglycanopathies, which comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies, usually present with progressive weakness leading to early loss of ambulation and premature death, and no effective treatment is currently available. Objective: To present clinical aspects and outcomes of six children with sarcoglycanopathies treated with steroids for at least one year. Method: Patient files were retrospectively analyzed for steroid use. Results: Stabilization of muscle strength was noted in one patient, a slight improvement in two, and a slight worsening in three. In addition, variable responses of forced vital capacity and cardiac function were observed. Conclusions: No overt clinical improvement was observed in patients with sarcoglycanopathies under steroid therapy. Prospective controlled studies including a larger number of patients are necessary to determine the effects of steroids for sarcoglycanopathies.
- Validation of the Expression and Emotion Scale for Children with attention deficit hyperactivity disorder into Brazilian Portuguese(2017) SIMON, Margarete Andreozzi Vaz Pereira; REED, Umbertina Conti; VAUGHAN, Brigette; SIMON, Valdecir Antonio; CASELLA, Erasmo BarbanteObjective: To validate the parent-rated Expression and Emotion Scale for Children (EESC) for patients with attention-deficit/ hyperactivity disorder (ADHD). Methods: The EESC was applied to parents of children with and without ADHD. The children were divided into age groups: Group A, between six and eight years old; Group B, between nine and 11 years old; and Group C, between 12 and 15 years old. The validation was carried out according to the steps proposed by Guillemin et al. For the statistical calculation, Cronbach's alpha, Pearson's correlation, the ICC and ROC curve were used. Results: The statistical tests showed satisfactory coefficients: Cronbach's alpha = 0.76; Pearson's correlation r = 0.91 with CI 95%; replicability ICC = 0.66; sensitivity 0.75; specificity 0.67; accuracy 71%. Conclusion: According to psychometric data on internal and external consistency (reliability, reproducibility), sensitivity, and specificity, the parent-rated EESC for ADHD is useful in assessing emotional expression.
- Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders(2022) MORENO, Cristiane Araujo Martins; CAMELO, Clara Gontijo; SAMPAIO, Pedro Henrique Marte de Arruda; FONSECA, Alulin Tacio Quadros Santos Monteiro; ESTEPHAN, Eduardo de Paula; SILVA, Andre Macedo Serafim; PIROLA, Renann Nunes; SILVA, Luiz Henrique Libardi; LIMA, Karlla Danielle Ferreira; ALBUQUERQUE, Marco Antonio Veloso de; CAMELO FILHO, Antonio Edvan; MARQUES, Marcos Vinicius Oliveira; YANAGIURA, Mario Teruo; CAVALCANTE, Wagner Cid Palmeira; MATSUI JUNIOR, Ciro; ISIHI, Lucas Michielon de Augusto; MENDONCA, Rodrigo Holanda; POUZA, Ana Flavia Pincerno; CARVALHO, Mary Souza de; REED, Umbertina Conti; ZANOTELI, EdmarBackground: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. Objective: We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. Methods:Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. Results: There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. Conclusion: The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.
- 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.
- 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.