RODRIGO DE HOLANDA MENDONCA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
8 resultados
Resultados de Busca
Agora exibindo 1 - 8 de 8
- 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
- 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, JulianaSpinal 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.
- 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
- 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.
- Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital(2020) STUDART-NETO, Adalberto; GUEDES, Bruno Fukelmann; TUMA, Raphael de Luca e; CAMELO FILHO, Antonio Edvan; KUBOTA, Gabriel Taricani; IEPSEN, Bruno Diogenes; MOREIRA, Gabriela Pantaleao; RODRIGUES, Julia Chartouni; FERRARI, Maira Medeiros Honorato; CARRA, Rafael Bernhart; SPERA, Raphael Ribeiro; OKU, Mariana Hiromi Manoel; TERRIM, Sara; LOPES, Cesar Castello Branco; PASSOS NETO, Carlos Eduardo Borges; FIORENTINO, Matheus Dalben; SOUZA, Julia Carvalhinho Carlos De; BAIMA, Jose Pedro Soares; SILVA, Tomas Fraga Ferreira Da; MORENO, Cristiane Araujo Martins; SILVA, Andre Macedo Serafim; HEISE, Carlos Otto; MENDONCA, Rodrigo Holanda; FORTINI, Ida; SMID, Jerusa; ADONI, Tarso; GONCALVES, Marcia Rubia Rodrigues; PEREIRA, Samira Luisa Apostolos; PINTO, Lecio Figueira; GOMES, Helio Rodrigues; ZANOTELI, Edmar; BRUCKI, Sonia Maria Dozzi; CONFORTO, Adriana Bastos; CASTRO, Luiz Henrique Martins; NITRINI, RicardoBackground: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.
- Gene therapy in neuromuscular disorders(2022) MENDONCA, Rodrigo Holondo; ZANOTELI, EdmorMonogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.
- Managing intrathecal administration of nusinersen in adolescents and adults with 5q-spinal muscular atrophy and previous spinal surgery(2021) MENDONCA, Rodrigo de Holanda; FERNANDES, Hermann Dos Santos; PINTO, Rafael Barbero Schimmelpfeng; MATSUI JUNIOR, Ciro; POLIDO, Graziela Jorge; SILVA, Andre Macedo Serafim da; GROSSKLAUSS, Luis Fernando; REED, Umbertina Conti; ZANOTELI, EdmarBackground: Spinal muscular atrophy (SMA) is a neurodegenerative disease of lower motor neurons associated with frequent occurrence of spinal deformity. Nusinersen is an antisense oligonucleotide that increases SMN protein level and is administrated by frequent intrathecal lumbar injections. Thus,spinal deformities and previous spinal surgery are important challenges for drug delivery in SMA.Objective: To report imaging methods used for Nusinersen injection in SMA patients. Methods: Nusinersen injection procedures in SMA types 2 and 3 patients who had previous spinal surgery were analyzed retrospectively to describe the imaging and puncture procedures, as well as the occurrence of complications. Results: Nine SMA patients (14 to 50 years old) underwent 57 lumbar punctures for nusinersen injection. Six patients had no interlaminar space available; in five of them, a transforaminal approach was used, and another one underwent a surgery to open a posterior bone window for the injections. Transforaminal puncture was performed using CT scan in three cases and fluoroscopy in the other two, with a similar success rate. One patient in the transforaminal group had post-procedure radiculitis, and another one had vagal reaction (hypotension). In three cases, with preserved interlaminar space, injections were performed by posterior interlaminar puncture, and only one adverse event was reported (post-puncture headache). Conclusion: In SMA patients with previous spinal surgery, the use of imaging-guided intervention is necessary for administering intrathecal nusinersen. Transforaminal technique is indicated in patients for whom the interlaminar space is not available, and injections should always be guided by either CT or fluoroscopy.
- Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis(2017) GRATIVVOL, Ronnyson Susano; SILVA, Andre Macedo Serafim da; GUEDES, Brino Fukelmann; ESTEPHAN, Eduardo de Paula; MENDONCA, Rodrigo de Holanda; ZAMBON, Antonio Alberto; HEISE, Carlos Otto; ZANOTELI, Edmar