ANDRE MACEDO SERAFIM DA SILVA
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
9 resultados
Resultados de Busca
Agora exibindo 1 - 9 de 9
- Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia(2020) CALDAS, Vitor Marques; HEISE, Carlos Otto; KOUYOUMDJIAN, Joao Aris; ZAMBON, Antonio Alberto; SILVA, Andre Macedo Serafim; ESTEPHAN, Eduardo de Paula; ZANOTELI, EdmarThis study was designed to analyze the sensitivity, specificity, and accuracy of jitter parameters combined with repetitive nerve stimulation (RNS) in congenital myasthenic syndrome (CMS), chronic progressive external ophthalmoplegia (CPEO), and congenital myopathies (CM). Jitter was obtained with a concentric needle electrode during voluntary activation of the Orbicularis Oculi muscle in CMS ( n = 21), CPEO ( n = 20), and CM ( n = 18) patients and in controls ( n = 14). RNS (3 Hz) was performed in six different muscles for all patients ( Abductor Digiti Minimi, Tibialis Anterior, upper Trapezius, Deltoideus, Orbicularis Oculi, and Nasalis). RNS was abnormal in 90.5% of CMS patients and in only one CM patient. Jitter was abnormal in 95.2% of CMS, 20% of CPEO, and 11.1% of CM patients. No patient with CPEO or CM presented a mean jitter higher than 53.6 mu s or more than 30% abnormal individual jitter (> 45 mu s). No patient with CPEO or CM and mild abnormal jitter values presented an abnormal decrement. Jitter and RNS assessment are valuable tools for diagnosing neuromuscular transmission abnormalities in CMS patients. A mean jitter value above 53.6 mu s or the presence of more than 30% abnormal individual jitter (> 45 mu s) strongly suggests CMS compared with CPEO and CM.
- 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
- 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.
- 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.
- A new mutation in PYGM causing McArdle disease in a Brazilian patient(2020) GOMES, Caio Perez; SILVA, Andre Macedo Serafim da; ZANOTELI, Edmar; PESQUERO, Joao Bosco
conferenceObject Clinicogenetic Lessons from 370 Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy(2020) WINCKLER, Pablo Brea; SILVA, Andre M. S. da; COIMBRA-NETO, Antonio R.; CARVALHO, Elmano; CHWAL, Bruna Cristine; CAVALCANTI, Eduardo B. U.; SOBREIRA, Claudia F. R.; MARRONE, Carlo D.; MACHADO-COSTA, Macela Marcela C.; CARVALHO, Alzira Alzira A. S.; FEIO, Raimunda H. F.; RODRIGUES, Cleonisio L.; GONCALVES, Marcus V. M.; TENORIO, Renata B.; MENDONCA, Rodrigo H.; COTTA, Ana; PAIM, Julia F. O.; SILVA, Cynthia Costa e; CRUZ, Camila de Aquino; BENA, Marjory I.; BETANCUR, Daniel F. A.; HUSNY, Antonette S. El; SOUZA, Isabel C. N. de; DUARTE, Regina C. B.; REED, Umbertina C.; CHAVES, Marcia L. F.; ZANOTELI, Edmar; FRANCA, Marcondes C.; SAUTE, Jonas- Facial myokymia in inherited peripheral nerve hyperexcitability syndrome(2020) CAMELO, Clara Gontijo; SILVA, Andre Macedo Serafim; MORENO, Cristiane Araujo Martins; MATSUI-JUNIOR, Ciro; HEISE, Carlos Otto; PEDROSO, Jose Luiz; ZANOTELI, EdmarY Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or nonimmune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: KCNQ2 and KCNA1. Patients with KCNQ2 gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. We report a woman with marked facial myokymia and distal upper limb contractures whose mother also had subtle facial myokymia; both had the c.G620A (p. R207Q) variant in the KCNQ2 gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for KCNQ2 variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels.
- 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 features of collagen VI-related dystrophies: A large Brazilian cohort(2020) ZANOTELI, Edmar; SOARES, Priscilla Souza; SILVA, Andre Macedo Serafim da; CAMELO, Clara Gontijo; FONSECA, Alulin Tacio Quadros Santos Monteiro; ALBUQUERQUE, Marco Antinio Veloso; MORENO, Cristiane Araujo Martins; ABATH NETO, Osorio Lopes; NOVO FILHO, Gil Monteiro; KULIKOWSKI, Leslie Domenici; REED, Umbertina ContiObjectives: Collagen VI-related dystrophies (COL6-RDs) have a broad clinical spectrum and are caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. Despite the clinical variability, two phenotypes are classically recognized: Bethlem myopathy (BM, milder form) and Ullrich congenital muscular dystrophy (UCMD, more severe form), with many patients presenting an intermediate phenotype. In this work, we present clinical and genetic data from 28 patients (27 families), aged 6-38 years (mean of 16.96 years), with COL6-RDs. Patients and methods: Clinical, muscle histology and genetic data are presented. COL6A1, COL6A2 and COL6A3 genes were analyzed by next-generation sequencing (NGS). Results: Homozygous or heterozygous variants were found in COL6A1 (12 families), COL6A2 (12 families) and COL6A3 (3 families). Patients with the severe UCMD phenotype (three cases) had a homogeneous clinical picture characterized by neonatal onset of manifestations, no gait acquisition and a stable course, but with severe respiratory involvement. Most of the patients with the mild UCMD phenotype had neonatal onset of manifestations (88.8 %), delayed motor development (66.6 %), slowly progressive course, pulmonary involvement (55.5 %) and loss of the walking capacity before the age of 10 (66.6 %). In the intermediate group (nine patients), some children had neonatal onset of manifestations (44.5 %) and delayed motor development (88.9 %); but all of them achieved the ability to walk and were still ambulatory. Some patients that had the BM phenotype presented neonatal manifestations (57.1 %); however, all of them had normal motor development and normal pulmonary function. Only one patient from the group of BM lost the walking capacity during the evolution of the disease. Other frequent findings observed in all groups were joint retractions, spinal deformities, distal hyperextensibility, congenital hip dislocation and keloid formation. Conclusion: COL6-RDs present variable clinical manifestations, but common findings are helpful for the clinical suspicion. NGS is a valuable approach for diagnosis, providing useful information for the genetic counseling of families.