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
14 resultados
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conferenceObject ATYPICAL AND UNCLASSIFIED CASES OF INFLAMMATORY MYOPATHIES(2018) SILVA, A. M. S.; MENDONCA, R. H.; ZANOTELI, E.- Hypercontractile congenital muscle stiffness(2018) CAMELO, C.; SILVA, A. Da; REED, U.; BONNEMANN, C.; ZANOTELI, E.
- Brachio-cervical inflammatory myopathy with lymphoid follicle-like structures in a patient with scleroderma(2018) SILVA, A.; VIANNA, M.; MENDONCA, R.; ZANOTELI, E.
- McArdle’s disease: an underestimated or underdiagnosed myopathy in rheumatologic practice? Cases series and literature review(2018) PALLO, Pablo Arturo Olivo; SILVA, André Macedo Serafim da; ZANOTELI, Edmar; SHINJO, SamuelOBJECTIVE: McArdle’s disease is a metabolic myopathy that manifests with varied clinical conditions and is often confounded with other diagnoses. Herein, the authors report a case series and carry out a literature review. METHODS: A cross-sectional single-center study evaluating 12 patients with McArdle’s disease was conducted. RESULTS: Mean age at onset of symptoms was 28.0±17.4 years, while age at disease diagnosis was 39.0±14.8 years. History of intolerance to physical exercises was observed in 10 cases; muscle weakness in 9, second wind phenomenon in only 1 case. The presence of cramps, fatigue and myalgia was observed in 12, 11 and 9 of the cases respectively. Median creatine phosphokinase level was 5951U/L. Most of the patients (83.3%) were initially diagnosed with another condition (polymyositis, inclusion body myositis, fibromyalgia and/or muscular dystrophy), and approximately half had received glucocorticoids and/or immunosuppressants prior to definitive diagnosis. All patients underwent muscular biopsy, which revealed the presence of subsarcolemmal vacuoles characterized by glycogen deposits, and negative histochemical reaction for the myophosphorylase enzyme. CONCLUSION: The present study reinforces the presence of clinical variability among patients and shows that McArdle’s disease should be considered one of the differential diagnoses of inflammatory myopathies and other rheumatic diseases.
- Lumbar catheter placement for nusinersen administration in a SMA 2 patient with spinal deformities and previous spinal surgery(2018) MENDONCA, R.; SILVA, A.; VELASCO, O.; CARDEAL, D.; CONTI-REED, U.; ZANOTELI, E.
- Myositis and fasciitis due to disseminated histoplasmosis(2018) SILVA, A.; VIANNA, M.; ESTEVES, H.; COMELLO, F.; ZANOTELI, E.
- The p.N88K mutation in the RAPSN gene in Brazilian patients with congenital myasthenic syndrome(2018) ESTEPHAN, E.; ZAMBON, A.; MARCHIORI, P.; SILVA, A.; MORENO, C.; REED, U.; TOPF, A.; LOCHMUELLER, H.; ZANOTELIL, E.
- Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure(2018) SILVA, Andre M. S.; MENDONCA, Rodrigo H.; SOARES, Diogo C.; CALLEGARO, Dagoberto; CALDAS, Vitor M.; PERISSINOTTI, Iago N.; CARVALHO, Mary S.; ZANOTELI, Edmar
- A curable myopathy manifesting as exercise intolerance and respiratory failure(2018) SILVA, A.; MENDONCA, R.; SOARES, D.; CALLEGARO, D.; CALDAS, V.; CARVALHO, M.; ZANOTELI, E.
- A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome(2018) ESTEPHAN, Eduardo de Paula; SOBREIRA, Claudia Ferreira da Rosa; SANTOS, Andre Cleriston Jose dos; TOMASELLI, Pedro Jose; MARQUES JR., Wilson; ORTEGA, Roberta Paiva Magalhes; COSTA, Marcela Camara Machado; SILVA, Andre Macedo Serafim da; MENDONCA, Rodrigo Holanda; CALDAS, Vitor Marques; ZAMBON, Antonio Alberto; ABATH NETO, Osorio; MARCHIORI, Paulo Euripedes; HEISE, Carlos Otto; REED, Umbertina Conti; AZUMA, Yoshiteru; TOPF, Ana; LOCHMULLER, Hanns; ZANOTELI, EdmarThe most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, we aimed to verify the frequency of this mutation among individuals with CMS in a larger cohort of CMS patients from different areas of Brazil and to characterize clinical features of these patients. Eighty-four patients with CMS, from 72 families, were clinically evaluated and submitted to direct sequencing of the exon 2 of CHRNE. The c.130dupG mutation was found in 32 patients (23 families), with 26 patients (19 families, 26.3%) in homozygosis, confirming its high prevalence in different regions of Brazil. Among the homozygous patients, the following characteristics were frequent: onset of symptoms before 2 years of age (92.3%), little functional restriction (92.3%), fluctuating symptoms (100%), ocular muscle impairment (96.1%), ptosis (100%), limb weakness (88.4%), response to pyridostigmine (100%), facial involvement (77%), and bulbar symptoms (70.8%). The pretest probability of finding at least one allele harbouring the c.130dupG mutation was 38.1%. Selecting only patients with impaired eye movement together with limb weakness and improvement with pyridostigmine, the probability increases to 72.2%. This clinical pre-selection of patients is likely a useful tool for regions where CHRNE mutations have a founder effect. In conclusion, the CHRNE mutation c.130dupG leads to fairly benign natural course of the disease with relative homogeneity.