EDMAR ZANOTELI

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Departamento de Neurologia, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
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

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Revista / Livro: Arquivos de Neuro-Psiquiatria ×

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Agora exibindo 1 - 10 de 21
  • article 1 Citação(ões) na Scopus
    Inflammatory myopathies: an update for neurologists
    (2022) SILVA, Andre Macedo Serafim; CAMPOS, Eliene Dutra; ZANOTELI, Edmar
    Idiopathic inflammatory myopathies (IIM) are a heterogenous group of treatable myopathies. Patients present mainly to the rheumatologist and neurologists, complaining of acute or subacute onset of proximal weakness. Extramuscular manifestations may occur, including involvement of the lungs, skin, and joints. Classically, the diagnosis used to be made based on the creatine kinase level increase, abnormalities in electroneuromyography and presence of inflammatory infiltrates in the muscle biopsy. Recently, the importance of autoantibodies has increased, and now they may be identified in more than half of IIM patients. The continuous clinicoseropathological improvement in IIM knowledge has changed the way we see these patients and how we classify them. In the past, only polymyositis, dermatomyositis and inclusion body myopathy were described. Currently, immune-mediated necrotizing myopathy, overlap myositis and antisynthetase syndrome have been considered the most common forms of IIM in clinical practice, increasing the spectrum of classification. Patients previously considered to have polymyositis, in fact have these other forms of seropositive IIM. In this article, we reviewed the new concepts of classification, a practical way to make the diagnosis and how to plan the treatment of patients suffering from IIM.
  • article 1 Citação(ões) na Scopus
    Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
    (2017) ESTEPHAN, Eduardo de Paula; MORENO, Cristiane Araujo Martins; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo de Holanda; ABATH NETO, Osorio; NISHIMURA, Patricia Yoshi; GALINDO, Layla Testa; ZANOTELI, Edmar
  • article 7 Citação(ões) na Scopus
    Therapeutic advances in 5q-linked spinal muscular atrophy
    (2018) REED, Umbertina Conti; ZANOTELI, Edmar
    Spinal 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.
  • article 0 Citação(ões) na Scopus
    Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy
    (2024) ZANOTELI, Edmar; ARAUJO, Alexandra Prufer de Queiroz Campos; BECKER, Michele Michelin; FORTES, Clarisse Pereira Dias Drumond; FRANCA, Marcondes Cavalcante; MACHADO-COSTA, Marcela Camara; MARQUES JR., Wilson; MATSUI JR., Ciro; MENDONCA, Rodrigo Holanda; NARDES, Flavia; OLIVEIRA, Acary Souza Bulle; PESSOA, Andre Luis Santos; SAUTE, Jonas Alex Morales; SGOBBI, Paulo; LINDEN JR., Helio van der; GURGEL-GIANNETTI, Juliana
    Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1 . SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.
  • article 2 Citação(ões) na Scopus
  • article 1 Citação(ões) na Scopus
    Unilateral abdominal protrusion as the main diagnostic sign of facioscapulohumeral dystrophy
    (2019) SILVA, Andre Macedo Serafim da; CAVALCANTE, Wagner Cid Palmeira; CAMELO, Clara Gontijo; MENDONCA, Rodrigo de Holanda; FORTINI, Ida; CARVALHO, Mary Souza de; ZANOTELI, Edmar
  • article 15 Citação(ões) na Scopus
    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, Edmar
    Significant 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.
  • article 8 Citação(ões) na Scopus
    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.
  • article 0 Citação(ões) na Scopus
    STIR and diffusion-weighted MRI in asymptomatic hyperCKemia caused by ANO5-related myopathy
    (2020) SILVA, Andre Macedo Serafim; GUIMARAES, Julio Brandao; MACHADO, Flavia Costa Nunes; ZANOTELI, Edmar
  • article 2 Citação(ões) na Scopus
    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, Edmar
    Background: 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.