EDUARDO DE PAULA ESTEPHAN
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
5 resultados
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- 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.
conferenceObject CLINICAL AND MOLECULAR SPECTRUM OF MYOFIBRILLAR MYOPATHY IN A BRAZILIAN COHORT(2019) SILVA, A. M. S.; MENDONCA, R. H.; CAMELO, C. G.; ESTEPHAN, E. P.; MORENO, C. A. M.; CARVALHO, M. S.; NASCIMENTO, A. M.; KULIKOWSKI, L. D.; DIAS, A. T.; OLIVEIRA, A. S. B.; REED, U. C.; ZANOTELI, E.- The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates(2022) SILVA, Andre Macedo Serafim; RODRIGO, Patricia; MORENO, Cristiane Araujo Martins; MENDONCA, Rodrigo de Holanda; ESTEPHAN, Eduardo de Paula; CAMELO, Clara Gontijo; CAMPOS, Eliene Dutra; DIAS, Alexandre Torchio; NASCIMENTO, Amom Mendes; KULIKOWSKI, Leslie Domenici; OLIVEIRA, Acary Souza Bulle; REED, Umbertina Conti; GOLDFARB, Lev G.; OLIVE, Montse; ZANOTELI, EdmarDesmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed to analyze the clinical features, morphology, and distribution of desmin aggregates in skeletal muscle biopsies of patients with desminopathy and to correlate these findings with the type and location of disease-causing DES variants. This retrospective study included 30 patients from 20 families with molecularly confirmed desminopathy from 2 neuromuscular referral centers. We identified 2 distinct patterns of desmin aggregates: well-demarcated subsarcolemmal aggregates and diffuse aggregates with poorly delimited borders. Pathogenic variants located in the 1B segment and the tail domain of the desmin molecule are more likely to present with early-onset cardiomyopathy compared to patients with variants in other segments. All patients with mutations in the 1B segment had well-demarcated subsarcolemmal aggregates, but none of the patients with variants in other desmin segments showed such histological features. We suggest that variants located in the 1B segment lead to well-shaped subsarcolemmal desmin aggregation and cause disease with more frequent cardiac manifestations. These findings will facilitate early identification of patients with potentially severe cardiac syndromes.
- Recessive congenital fiber type disproportion caused by TPM3 mutation(2018) MORENO, C.; ESTEPHAN, E.; ABATH NETO, O.; CAMELO, C.; SILVA, A.; REED, U.; BONNEMANN, C.; ZANOTELI, E.
- Clinical and molecular findings in a cohort of ANO5-related myopathy(2019) SILVA, Andre M. S.; COIMBRA-NETO, Antonio R.; SOUZA, Paulo Victor S.; WINCKLER, Pablo B.; GONCALVES, Marcus V. M.; CAVALCANTI, Eduardo B. U.; CARVALHO, Alzira A. D. S.; SOBREIRE, Claudia F. D. R.; CAMELO, Clara G.; MENDONCA, Rodrigo D. H.; ESTEPHAN, Eduardo D. P.; REED, Umbertina C.; MACHADO-COSTA, Marcela C.; DOURADO-JUNIOR, Mario E. T.; PEREIRA, Vanessa C.; CRUZEIRO, Marcelo M.; HELITO, Paulo V. P.; AIVAZOGLOU, Lais U.; CAMARGO, Leonardo V. D.; GOMES, Hudson H.; CAMARGO, Amaro J. S. D.; PINTO, Wladimir B. V. D. R.; BADIA, Bruno M. L.; LIBARDI, Luiz H.; YANAGIURA, Mario T.; OLIVEIRA, Acary S. B.; NUCCI, Anamarli; SAUTE, Jonas A. M.; FRANCA-JUNIOR, Marcondes C.; ZANOTELI, EdmarObjective ANO5-related myopathy is an important cause of limb-girdle muscular dystrophy (LGMD) and hyperCKemia. The main descriptions have emerged from European cohorts, and the burden of the disease worldwide is unclear. We provide a detailed characterization of a large Brazilian cohort of ANO5 patients. Methods A national cross-sectional study was conducted to describe clinical, histopathological, radiological, and molecular features of patients carrying recessive variants in ANO5. Correlation of clinical and genetic characteristics with different phenotypes was studied. Results Thirty-seven patients from 34 nonrelated families with recessive mutations of ANO5 were identified. The most common phenotype was LGMD, observed in 25 (67.5%) patients, followed by pseudometabolic presentation in 7 (18.9%) patients, isolated asymptomatic hyperCKemia in 4 (10.8%) patients, and distal myopathy in a single patient. Nine patients presented axial involvement, including one patient with isolated axial weakness. The most affected muscles according to MRI were the semimembranosus and gastrocnemius, but paraspinal and abdominal muscles, when studied, were involved in most patients. Fourteen variants in ANO5 were identified, and the c.191dupA was present in 19 (56%) families. Sex, years of disease, and the presence of loss-of-function variants were not associated with specific phenotypes. Interpretation We present the largest series of anoctaminopathy outside Europe. The most common European founder mutation c.191dupA was very frequent in our population. Gender, disease duration, and genotype did not determine the phenotype.