OSORIO LOPES ABATH NETO
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
6 resultados
Resultados de Busca
Agora exibindo 1 - 6 de 6
- Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy(2016) SILVA, A.; ESTEPHAN, E.; MORENO, C.; MENDONCA, R.; NISHIMURA, P.; GALINDO, L.; CARVALHO, M.; ABATH-NETO, O.; ZANOTELI, E.
- Necklace fibers as histopathological marker in a patient with severe form of X-linked myotubular myopathy(2012) GURGEL-GIANNETTI, Juliana; ZANOTELI, Edmar; CONCENTINO, Eralda Luiza de Castro; ABATH NETO, Osorio; PESQUERO, Joao Bosco; REED, Umbertina Conti; VAINZOF, MarizX-linked myotubular myopathy due to mutations in the MTM1 gene is classically characterized by a severe neonatal phenotype and a typical muscle biopsy presenting globular and centrally located nuclei in muscle myofibers. Recently, four patients with mild late-onset form have been described, a male with a hemizygous mutation and three females with heterozygous mutations in the MTM1 gene. The muscle biopsies were performed at 13-35 years of age and a new histological marker, the necklace fibers, was described. Here, we report two siblings with the pathogenic c.664 C > T mutation in the MTM1 gene, presenting a severe muscle weakness and respiratory impairment requiring ventilatory support since the first months of life until death, at the age of 36 months and 5 months. In the older brother the muscle biopsy, performed at the age of 30 months, showed almost 100% of necklace fibers, which were not present in the younger one submitted to muscle biopsy at 5 months of age. Our findings confirm the necklace fibers can be a histopathological finding of MTM1 myopathies, even in the severe neonatal form, and suggest that the necklace fibers appear or increase in number over time.
- Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients(2017) NETO, Osorio Abath; MORENO, Cristiane de Araujo Martins; MALFATTI, Edoardo; DONKERVOORT, Sandra; BOHM, Johann; GUIMARAES, Julio Brandao; FOLEY, A. Reghan; MOHASSEL, Payam; DASTGIR, Jahannaz; BHARUCHA-GOEBEL, Diana Xerxes; MONGES, Soledad; LUBIENIECKI, Fabiana; COLLINS, James; MEDNE, Livija; SANTI, Mariarita; YUM, Sabrina; BANWELL, Brenda; SALORT-CAMPANA, Emmanuelle; RENDU, John; FAURE, Julien; YIS, Uluc; EYMARD, Bruno; CHERAUD, Chrystel; SCHNEIDER, Raphael; THOMPSON, Julie; LORNAGE, Xaviere; MESROB, Lilia; LECHNER, Doris; BOLAND, Anne; DELEUZE, Jean-Francois; REED, Umbertina Conti; OLIVEIRA, Acary Souza Bulle; BIANCALANA, Valerie; ROMERO, Norma B.; BONNEMANN, Carsten G.; LAPORTE, Jocelyn; ZANOTELI, EdmarMutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and biceps brachii in Comparison to adjacent muscles. In addition to a variable prominence of central nuclei, muscle biopsy from 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1-related centronuclear myopathy by highlighting common and variable clinical, histological, and imaging findings in these patients.
- Recessive congenital fiber type disproportion caused by TPM3 mutation(2018) MORENO, C.; ESTEPHAN, E.; ABATH NETO, O.; CAMELO, C.; SILVA, A.; REED, U.; BONNEMANN, C.; ZANOTELI, E.
- Molecular analysis of a Brazilian cohort of myotubular and centronuclear myopathy patients(2014) ABATH NETO, O.; MARTINS, C. A.; REED, U. C.; BIANCALANA, V.; BOENNEMANN, C.; LAPORTE, J.; ZANOTELI, E.
- Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI(2016) DABAJ, I.; MORENO, C. Araujo Martins; ABATH NETO, O.; BERTINI, E.; CASTIGLIONI, C.; GUIMARAES, J. Brandao; REED, U. Conti; MESROB, L.; LECHNER, D.; FIORILLO, C.; MALFATI, E.; BOLAND, A.; DELEUZE, J.; BONNEMANN, C.; LAPORTE, J.; ROMERO, N.; GOMEZ, D.; QUIJANO-ROY, S.; CARLIER, R.; ZANOTELI, E.