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Dive into the research topics where André Macedo Serafim da Silva is active.

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Featured researches published by André Macedo Serafim da Silva.


Neuromuscular Disorders | 2017

Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy

André Macedo Serafim da Silva; Rodrigo Mendonça; Cristiane de Araújo Martins Moreno; Eduardo de Paula Estephan; Paulo Victor Partezani Helito; Mary S. Carvalho; Edmar Zanoteli

Skeletal muscle involvement as a neurologic manifestation in individuals with HIV is rare, especially as rod myopathy. We describe a 41-year-old male with HIV infection who presented progressive proximal muscle weakness and limb-girdle atrophy. A muscle magnetic resonance image showed bilateral fatty infiltration and post-contrast enhancement in the arm and thigh muscles. The muscle biopsy revealed intracytoplasmic aggregates with appearance of nemaline rod bodies with Gomori trichrome staining and electron microscopy in most fibers. The patient underwent six cycles of intravenous methylprednisolone pulses, presenting clinical improvement. Post-treatment muscle biopsy showed fewer nemaline bodies and muscle magnetic resonance image depicted a pronounced reduction of muscular edema. These findings corroborate that deposition of nemaline bodies in these patients might be related to an immune response triggered by the virus.


Neuromuscular Disorders | 2018

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

Eduardo de Paula Estephan; Antonio Alberto Zambon; Paulo Eurípedes Marchiori; André Macedo Serafim da Silva; Vitor M. Caldas; Cristiane Araújo Martins Moreno; Umbertina Conti Reed; Rita Horvath; Ana Töpf; Hanns Lochmüller; Edmar Zanoteli

Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS patients). Patient 1 and patient 2 harbor the mutation p.N88K in homozygosity, while patient 3 harbors p.N88K in compound heterozygosity with another pathogenic variant (p.V165M; c.493G ≥ A). At onset, patient 3 presented with more severe symptoms compared to the other two, showing generalized weakness and repeated episodes of respiratory failure in the first years of life. During adolescence, she became gradually less symptomatic and does not require medication anymore, presenting better long-term outcomes than patients 1 and 2. This case series illustrates the variability of RAPSN early-onset CMS, with patient 3, despite severe onset, revealing an almost complete reversal of myasthenic symptoms, not limited to apneic episodes. Moreover, it suggests that RAPSN CMS may be underdiagnosed in non-European countries.


Neurology | 2018

Pearls & Oy-sters: A curable myopathy manifesting as exercise intolerance and respiratory failure

André Macedo Serafim da Silva; Rodrigo Mendonça; Diogo Cordeiro de Queiroz Soares; Dagoberto Callegaro; Vitor M. Caldas; Iago N. Perissinotti; Mary S. Carvalho; Edmar Zanoteli

Few forms of severe genetic myopathies can successfully be treated, although multiple acyl-CoA dehydrogenase deficiency (MADD) is highly responsive to riboflavin supplementation.


Arquivos De Neuro-psiquiatria | 2017

Facial and bulbar muscle atrophy in acetylcholine receptor antibody-positive myasthenia gravis.

Ronnyson Susano Grativvol; André Macedo Serafim da Silva; Bruno Fukelmann Guedes; Eduardo de Paula Estephan; Rodrigo Mendonça; Antonio Alberto Zambon; Carlos Otto Heise; Edmar Zanoteli

A 62-year-old man presented with seven years of progressive dysphagia, dysphonia and difficulty in closing both eyes. His examination showed weakness and atrophy of facial and bulbar muscles without ocular involvement (Figure A, B and C). Single-fiber electromyography revealed increased jitter (Figure D). To evaluate for concurrent myopathy, a muscle biopsy was performed and showed angulated atrophic type II fibers, a particular finding described in patients with myasthenia gravis1,2 (Figure E). Acetylcholine receptor antibody was positive (2.2 nmol/L). Pronounced facial and tongue atrophy is uncommon in myasthenia gravis and usually associated with the muscle-specific receptor tyrosine kinase antibody, which was negative in this patient3,4.


Neuromuscular Disorders | 2016

Nemaline myopathy related to HIV infection with a good response to immunosuppression

André Macedo Serafim da Silva; Rodrigo Mendonça; Eduardo de Paula Estephan; Cristiane de Araújo Martins Moreno; Mary S. Carvalho; Edmar Zanoteli

examination, sclerotic skin and multiple erythematous indurations were observed on chest and all limbs. Range of motion of all the fingers was limited. However, neurologic examination is otherwise normal. Laboratory tests revealed peripheral eosinophilia, hypergammaglobulinemia and polyclonal gammopathy. Antinuclear antibody was marginally elevated while extractable nuclear antibodies were negative. Serum creatine kinase, aldolase and parasitic markers were within normal limits. T1-enhanced magnetic resonance imaging of thigh showed a diffuse thickening and enhancement of fasciae overlying thigh muscles bilaterally. Histopathologic findings were normal in muscle, while marked lymphocytic infiltration was present in fascia. Oral prednisolone and methotrexate relieved his symptoms remarkably leaving no limitation in joint movements or fibrosis. Although EF in childhood has been occasionally reported juvenile EF is even more uncommon. This case shows that initial combined treatment is corticosteroid and methotrexate could lead to a favorable course without residual change even marked limb at a young age of onset.


Journal of Neurology | 2018

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

Eduardo de Paula Estephan; Claudia Sobreira; André Clériston José dos Santos; Pedro J. Tomaselli; Wilson Marques; Roberta Paiva Magalhães Ortega; Marcela Câmara Machado Costa; André Macedo Serafim da Silva; Rodrigo Mendonça; Vitor M. Caldas; Antonio Alberto Zambon; Osorio Abath Neto; Paulo Eurípedes Marchiori; Carlos Otto Heise; Umbertina Conti Reed; Yoshiteru Azuma; Ana Töpf; Hanns Lochmüller; Edmar Zanoteli


Medical Express | 2018

McArdle’s disease: an underestimated or underdiagnosed myopathy in rheumatologic practice? Cases series and literature review

Pablo Arturo Olivo Pallo; André Macedo Serafim da Silva; Edmar Zanoteli; Samuel Katsuyuki Shinjo


Neuromuscular Disorders | 2017

A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndrome

Eduardo de Paula Estephan; André Macedo Serafim da Silva; Rodrigo Mendonça; Vitor M. Caldas; Antonio Alberto Zambon; Paulo Eurípedes Marchiori; C. Heise; Umbertina Conti Reed; Edmar Zanoteli


Arquivos De Neuro-psiquiatria | 2017

Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient.

Eduardo de Paula Estephan; Cristiane Araújo Martins Moreno; André Macedo Serafim da Silva; Rodrigo Mendonça; Osório Abath-Neto; Patricia Yoshi Nishimura; Layla Testa Galindo; Edmar Zanoteli


Neuromuscular Disorders | 2016

Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy

André Macedo Serafim da Silva; Eduardo de Paula Estephan; Cristiane de Araújo Martins Moreno; Rodrigo Mendonça; P. Nishimura; Layla Testa Galindo; Mary S. Carvalho; Osório Abath-Neto; Edmar Zanoteli

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Edmar Zanoteli

University of São Paulo

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