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
7 resultados
Resultados de Busca
Agora exibindo 1 - 7 de 7
- Immune-Mediated Necrotizing Myositis Presenting with Cutaneous Lesions(2021) SOUZA, Bruno de Castro e; FASCIANI, Isaura A.; SWICZAR, Bethania C. C.; MENDONCA, Rodrigo de H.; VALENTE, Neusa Y. S.
- 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.
- Myasthenia Gravis and COVID-19: Clinical Characteristics and Outcomes(2020) CAMELO-FILHO, Antonio E.; SILVA, Andre M. S.; ESTEPHAN, Eduardo P.; ZAMBON, Antonio A.; MENDONCA, Rodrigo H.; SOUZA, Paulo V. S.; PINTO, Wladimir B. V. R.; OLIVEIRA, Acary S. B.; DANGONI-FILHO, Iron; POUZA, Ana F. P.; VALERIO, Berenice C. O.; ZANOTELI, EdmarMyasthenia gravis (MG), an autoimmune neuromuscular disorder, may be a risk factor for severe COVID-19. We conducted an observational retrospective study with 15 consecutive adult MG patients admitted with COVID-19 at four hospitals in Sao Paulo, Brazil. Most patients with MG hospitalized for COVID-19 had severe courses of the disease: 87% were admitted in the intensive care unit, 73% needed mechanical ventilation, and 30% died. Immunoglobulin use and the plasma exchange procedure were safe. Immunosuppressive therapy seems to be associated with better outcomes, as it might play a protective role.
- Hypoglycemia in Patients With LAMA2-CMD(2023) CAMELO, Clara Gontijo; MORENO, Cristiane de Araujo Martins; ARTILHEIRO, Mariana Cunha; SILVA, Andre Macedo Serafim; FONSECA, Alulin Tacio Quadros Monteiro; HOLANDA, Rodrigo Mendonca de; REED, Umbertina Conti; ZANOTELI, EdmarBackground: Hypoglycemia has been reported in patients with LAMA2-CMD, but the frequency, risk factors, and correlation to genotype/phenotype have not been systematically assessed to date. Methods: A retrospective cohort study was performed on 48 patients with LAMA2-CMD. Patients were divided into two groups: a hypoglycemic group, with at least one episode of hypoglycemia, and a nonhypoglycemic group. The groups were compared according to gait function, epilepsy, intellectual disability, constipation, gastroesophageal reflux, gastrostomy, weight percentile, scoliosis, the use of a ventilator device, the use of a feeding device, neuromuscular disease swallowing status scale, and type of mutation. Results: Fifteen patients (31.2%) presented with at least one episode of symptomatic hypoglycemia and eight (16.6% of the cohort) had two or more episodes. All patients who had hypoglycemia were in the nonambulant group. We observed a correlation between gait, the use of ventilator and feeding devices, and swallow function with hypoglycemia. Patients with extremely low weight were five times more likely to have recurrent episodes of hypoglycemia. The presence of at least one missense variant appears to be associated with a lower risk of hypoglycemia. Conclusion: Patients with LAMA2-CMD are at risk of hypoglycemia. The risk is more relevant in patients with severe phenotype and patients with loss-of-function variants. For patients with extremely low weight, the risk is higher. Blood glucose should be actively measured in patients who are fasting or have infections, and health care providers should be prepared to identify and treat these patients. (c) 2023 Published by Elsevier Inc.
- Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy(2020) MENDONCA, Rodrigo de Holanda; JR, Ciro Matsui; POLIDO, Graziela Jorge; SILVA, Andre Macedo Serafim; KULIKOWSKI, Leslie; DIAS, Alexandre Torchio; ZANARDO, Evelin Aline; SOLLA, Davi Jorge Fontoura; GURGEL-GIANNETTI, Juliana; MOURA, Ana Carolina Monteiro Lessa de; SAMPAIO, Gabriela Palhares Campolina; OLIVEIRA, Acary Souza Bulle; SOUZA, Paulo Victor Sgobbi de; PINTO, Wladimir Bocca Vieira de Rezende; GONCALVES, Eduardo Augusto; FARIAS, Igor Braga; NARDES, Flavia; ARAUJO, Alexandra Prufer de Queiroz Campos; JR, Wilson Marques; TOMASELLI, Pedro Jose; RIBEIRO, Mara Dell Ospedale; KITAJIMA, Joao Paulo; MONTEIRO, Fabiola Paoli; SAUTE, Jonas Alex Morales; BECKER, Michele Michelin; SARAIVA-PEREIRA, Maria Luiza; BRUSIUS-FACCHIN, Ana Carolina; LINDEN, Vanessa van der; FLORENCIO, Rodrigo Neves; BARBOSA, Andre Vinicius Soares; MACHADO-COSTA, Marcela Camara; PESSOA, Andre Luiz Santos; SOUZA, Leticia Silva; JR, Marcondes Cavalcante Franca; KOK, Fernando; REED, Umbertina Conti; ZANOTELI, EdmarObjective The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) and to correlate the severity of the disease with the presence of specific intragenic variants in SMN1 and with the SMN2 copy number. Methods Four hundred fifty Brazilian patients with SMA were included in a retrospective study, and clinical data were analyzed compared with genetic data; the SMN2 copy number was obtained by multiplex ligation-dependent probe amplification and pathogenic variants in SMN1 by next-generation sequencing. Results Four hundred two patients (89.3%) presented homozygous exon 7-SMN1 deletion, and 48 (10.7%) were compound heterozygous for the common deletion in one allele and a point mutation in the other allele. Recurrent variants in exons 3 and 6 (c.460C>T, c.770_780dup and c.734_735insC) accounted for almost 80% of compound heterozygous patients. Another recurrent pathogenic variant was c.5C>G at exon 1. Patients with c.770_780dup and c.734_735insC had a clinical phenotype correlated with SMN2 copy number, whereas the variants c.460C>T and c.5C>G determined a milder phenotype independently of the SMN2 copies. Conclusions Patients with specific pathogenic variants (c.460C>T and c.5C>G) presented a milder phenotype, and the SMN2 copy number did not correlate with disease severity in this group.
- 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.
- Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy(2023) MOREIRA, Ana Lucila; MENDONCA, Rodrigo Holanda; POLIDO, Graziela Jorge; OLIVEIRA, Marcos Castello Barbosa; SILVA, Andre Macedo Serafim; ZANOTELI, EdmarObjective: We investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression. Methods: We examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age-and sex-matched control individuals using B-mode ultra-sound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status. Results: Compared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls. Conclusion: Ultrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm.