Now showing items 1-19 of 19

    • Acute necrotizing myopathy and podophyllin toxicity: report of a fatal case 

      Oliveira, Acary Souza Bulle [UNIFESP]; Calia, Leandro Cortoni [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Póvoa, Eliane Focaccia; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1996-06-01)
      A 21 year old male ingested podophyllin in a suicide attempt. The disorder was marked by seizures, coma, peripheral neuropathy, renal failure and acute necrotizing myopathy, an unusual finding. The coma and systemic ...
    • Centronuclear myopathy: histopathological aspects in ten patients with chilfhood onset 

      Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1998-03-01)
      Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; ...
    • Centronuclear myopathy: subgroup characterized by tissue mosaicism - Authors's response 

      Zanoteli, Edmar [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Assoc Arquivos De Neuro- Psiquiatria, 1999-06-01)
    • Complex I spectrophotometric assay in cultured cells: Detailed analysis of key factors 

      Oliveira, Katia Klug [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Rodrigues, Andresa De Santi [UNIFESP]; Tengan, Celia Harumi [UNIFESP] (Elsevier B.V., 2013-04-01)
      The diagnosis of mitochondrial encephalomyopathies caused by complex I (C-I) deficiency relies mainly on the spectrophotometric C-I assay. Considered difficult, this assay lacks reliability and has high nonspecific activity. ...
    • Distrofia muscular congênita estudo clinico de 17 pacientes 

      Oliveira, Acary Souza Bulle [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Ferreira Neto, A. [UNIFESP]; Schmidt, Beny [UNIFESP]; Lima, J. G. C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1991-09-01)
      We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, ...
    • Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes 

      Oliveira, Acary Souza Bulle [UNIFESP]; Schmidt, Beny [UNIFESP]; Ferreira Neto, Armando [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Lima, J. G. Camargo [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1991-06-01)
      A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All ...
    • Duchenne muscular dystrophy: alpha-dystroglycan immunoexpression in skeletal muscle and cognitive performance 

      Pereira, Conceição Campanario da Silva [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Cardoso, Ricardo; Oliveira, Acary Souza Bulle [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 2005-12-01)
      The Duchenne muscular systrophy (DMD) is a muscular dystrophy with cognitive impairment present in 20-30% of the cases. In the present study, in order to study the relationship between the alpha-dystroglycan (alpha-DG) ...
    • Ectopic development of skeletal muscle induced by subcutaneous transplant of rat satellite cells 

      Fukushima, Mauricio Guendi [UNIFESP]; Furlan, Ingrid; Chiavegatti, Tiago [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Godinho, Rosely Oliveira [UNIFESP] (Assoc Bras Divulg Cientifica, 2005-03-01)
      The present study analyzes the ectopic development of the rat skeletal muscle originated from transplanted satellite cells. Satellite cells (106 cells) obtained from hindlimb muscles of newborn female 2BAW Wistar rats were ...
    • Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions 

      Tengan, Célia Harumi [UNIFESP].; Ferreiro-Barros, Claudia Cristina [UNIFESP]; Cardeal, Marina [UNIFESP]; Fireman, Moacir Antonio Tenorio; Oliveira, Acary Souza Bulle [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Elsevier B.V., 2002-10-09)
      Small duplications (miniduplications) of the D-loop of human mitochondrial DNA (mtDNA) have been described in patients with mtDNA deletions, mtDNA point mutations and in normal aged tissues. the origin of these miniduplications ...
    • Frequency of dystrophic muscle abnormalities in chronic progressive external ophthalmoplegia: analysis of 86 patients 

      Kiyomoto, Beatriz Hitomi [UNIFESP]; Tengan, Celia Harumi [UNIFESP]; Costa, C. K. [UNIFESP]; Oliveira, A. S. [UNIFESP]; Schmidt, B.; Gabbai, Alberto Alain [UNIFESP] (B M J Publishing Group, 2006-04-01)
      Background: There are few reports describing the coexistence of dystrophic features with those typical of mitochondrial myopathies in muscle biopsy. A recent study suggested that dystrophic features are frequent in patients ...
    • Integrated analysis of the involvement of nitric oxide synthesis in mitochondrial proliferation, mitochondrial deficiency and apoptosis in skeletal muscle fibres 

      Rodrigues, Gabriela Silva [UNIFESP]; Godinho, Rosely Oliveira [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Gamba, Juliana [UNIFESP]; Bulle Oliveira, Acary Souza [UNIFESP]; Schmidt, Beny [UNIFESP]; Tengan, Celia Harumi [UNIFESP] (Nature Publishing Group, 2016)
      Nitric oxide (NO) is an important signaling messenger involved in different mitochondrial processes but only few studies explored the participation of NO in mitochondrial abnormalities found in patients with genetic ...
    • Miopatia mitocondrial relato de 12 casos com estudo histoquímico do músculo esquelético 

      Kiyomoto, Beatriz Hitomi [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Schmidt, Beny [UNIFESP]; Lima, J. G. C. [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1991-09-01)
      Twelve patients with histologically defined mitochondrial myopathy are described. There were 9 males and 3 females. The age of onset ranged from birth to 35 years with a median of 14 years. The most common clinical picture ...
    • Miopatia mitocondrial: apresentação de doze pacientes 

      Kiyomoto, Beatriz Hitomi [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 1989)
    • Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid 

      Tengan, Célia Harumi [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Rocha, M. S.; Tavares, VLS; Gabbai, Alberto Alain [UNIFESP]; Moraes, C. T. (Endocrine Soc, 1998-01-01)
      Diabetes mellitus is the most frequent endocrinopathy associated with mitochondrial disorders, particularly in patients with duplications of mitochondrial DNA (mtDNA). Although hypoparathyroidism has also been described ...
    • Mutações do DNA mitocondrial na oftalmoplegia externa progressiva crônica: estudo clínico, molecular e morfológico em biopsias musculares 

      Kiyomoto, Beatriz Hitomi [UNIFESP] (Universidade Federal de São Paulo (UNIFESP), 1997)
      A oftalmoplegia externa progressiva cronica (OEPC) e uma das manifestacoes mais comuns das doencas mitocondriais. Diversos defeitos do DNA mitocondrial foram identificados na OEPC: delecao simples, delecoes multiplas, ...
    • The mutations m.5628T > C and m18348A > G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia 

      Gamba, Juliana [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Schmidt, Beny [UNIFESP]; Tengan, Celia Harumi [UNIFESP] (Elsevier B.V., 2012-09-15)
      We identified a double mutation in a patient with chronic progressive external ophthalmoplegia, located in the tRNA(Ala) (m.5628T > C) and tRNA(LYs) (m.8348A > G) genes. Both mutations were previously described separately ...
    • Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A > G Mutation 

      Gamba, Juliana [UNIFESP]; Gamba, Luana Tesser [UNIFESP]; Rodrigues, Gabriela S. [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Moraes, Carlos T.; Tengan, Celia Harumi [UNIFESP] (Mdpi Ag, 2013-01-01)
      Nitric oxide (NO) is a free radical and a signaling molecule in several pathways, produced by nitric oxide synthase (NOS) from the conversion of L-arginine to citrulline. Supplementation of L-arginine has been used to treat ...
    • Paralisia periódica: estudo anátomo-patológico do músculo esquelético de 14 pacientes 

      Tengan, Célia Harumi [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Morita, Maria Da Penha Ananias [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Schmidt, Beny [UNIFESP]; Gabbai, Alberto Alain [UNIFESP] (Academia Brasileira de Neurologia - ABNEURO, 1994-03-01)
      Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked ...
    • Progressive myopathy with a combined respiratory chain defect including Complex II 

      Rodrigues, Andresa De Santi [UNIFESP]; Kiyomoto, Beatriz Hitomi [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Gabbai, Alberto Alain [UNIFESP]; Schmidt, Beny [UNIFESP]; Tengan, Celia Harumi [UNIFESP] (Elsevier B.V., 2008-01-15)
      Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported ...