EGBERTO REIS BARBOSA
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/62 - Laboratório de Fisiopatologia Cirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina
LIM/62 - Laboratório de Fisiopatologia Cirúrgica, Hospital das Clínicas, Faculdade de Medicina
15 resultados
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Agora exibindo 1 - 10 de 15
- Reply: Bilateral globus pallidus internus deep brain stimulation after bilateral pallidotomy in a patient with generalized early-onset primary dystonia(2013) FONOFF, Erich Talamoni; BARBOSA, Egberto Reis; TEIXEIRA, Manoel Jacobsen
conferenceObject Early Protocol Biopsies Can Identify Antibody-Mediated Rejection in Sensitized Patients(2013) SOUZA, P.; MACHADO, D.; AGUIRRE, A.; DAVID, D.; BARBOSA, E.; PAULA, F. de; NAHAS, W.; DAVID-NETO, E.; CASTRO, M.HLA sensitized patients are at risk for antibody-mediated rejection (ABMR). Our purpose was to evaluate the importance of early protocol biopsies. From Jul/2010 to Jun/2012, 101 sensitized patients defined as PRA>10% (class I and/or II by Flow-PRA) were transplanted at our institution. Out of them, 60 performed donor-specific antibodies (DSA) at transplant and a protocol-bx at day 7 (D7) and were included in this study. A second for cause indication biopsy (IB) was done at the physician’s discretion in 18 patients without previous acute rejection (AR) diagnosis. DSA were analyzed by single antigen bead assays at the time of biopsies (classified according to Banff’09 criteria). Patients (pts) mean age was 48±12 years, 48 were female (80%),45 first transplant (75%) and 42 (70%) received a kidney from deceased donor. 34 pts never presented AR episodes while 26 did. 20/26 (77%) of AR were diagnosed in the first 3 weeks after transplantation (median 13 days). Day 7 protocol biopsies (PB) showed AR in 12/26 (46%): 10 (85%) ABMR and 2 (15%) T-cell-mediated rejection (TCMR). The IB (n=18) done at a median of 11 days from the PB (range 3-112), showed AR in another 14 pts (56%): 10(71%) ABMR and 4 (29%) TCMR, as presented in Table 1 Pre-Tx mean MFI in ABMR pts did not differ among PB: 6001 (1596-11181) vs IB 2304 (840-14600)(p=NS). It also did not differ at the time of biopsy (2823 vs. 2277 in PB vs IB, respectively; p=NS). Patients with early ABMR diagnosis at PB had a trend to higher long-term MDRD (49±12mL/min) compared to patients with ABMR at IB (41±11mL/min) and similar to the whole non-ABMR patients (50±17mL/min). In conclusion, protocol biopsy is useful to diagnosis ABMR as early as in the first week pos-Tx. Early recognition of ABMR allows earlier treatment and possibly better long-term graft function in sensitized patients.- Non-motor symptoms in Parkinson's disease(2013) BARBOSA, Egberto Reis
conferenceObject Stimulation of electrode contacts within zona incerta directly blocks levodopa-induced dyskinesias in PD patients(2013) SOUZA, C. P.; GHILARDI, M. G. S.; CURY, R. G.; RODRIGUES, R. B. M.; BARBOSA, E. R.; TEIXEIRA, M. J.; FONOFF, E. T.conferenceObject Pain in patients with Parkinson's disease after STN DBS: A prospective study(2013) CURY, R. G.; GUILARDI, M. G.; SOUZA, C. P.; PAIVA, A. R.; GALHARDONI, R.; FONOFF, F.; MARCOLIN, M. A.; MYCZKOWSKI, M. L.; ARNAUT, D.; FONOFF, E. T.; BARBOSA, E. R.; TEIXEIRA, M. J.; ANDRADE, D. C.- Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism(2013) QUADRI, Marialuisa; FANG, Mingyan; PICILLO, Marina; OLGIATI, Simone; BREEDVELD, Guido J.; GRAAFLAND, Josja; WU, Bin; XU, Fengping; ERRO, Roberto; AMBONI, Marianna; PAPPATA, Sabina; QUARANTELLI, Mario; ANNESI, Grazia; QUATTRONE, Aldo; CHIEN, Hsin F.; BARBOSA, Egberto R.; OOSTRA, Ben A.; BARONE, Paolo; WANG, Jun; BONIFATI, VincenzoAutosomal recessive, early-onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. Response to levodopa was poor, and limited by side effects. Neuroimaging revealed brain atrophy, nigrostriatal dopaminergic defects, and cerebral hypometabolism. SYNJ1 encodes synaptojanin 1, a phosphoinositide phosphatase protein with essential roles in the postendocytic recycling of synaptic vesicles. The mutation is absent in variation databases and in ethnically matched controls, is damaging according to all prediction programs, and replaces an amino acid that is extremely conserved in the synaptojanin 1 homologues and in SAC1-like domains of other proteins. Sequencing the SYNJ1ORF in unrelated patients revealed another heterozygous mutation (p.Ser1422Arg), predicted as damaging, in a patient who also carries a heterozygous PINK1 truncating mutation. The SYNJ1 gene is a compelling candidate for Parkinsonism; mutations in the functionally linked protein auxilin cause a similar early-onset phenotype, and other findings implicate endosomal dysfunctions in the pathogenesis. Our data delineate a novel form of human Mendelian Parkinsonism, and provide further evidence for abnormal synaptic vesicle recycling as a central theme in the pathogenesis. (C) 2013 Wiley Periodicals, Inc.
conferenceObject Wilson's disease in southern Brazil: Genotype-phenotype correlations and description of two novel mutations in ATP7B gene(2013) MUNHOZ, R. P.; BEM, R. S. de; RASKIN, S.; MUZZILLO, D. A.; DEGUTI, M. M.; CANCADO, E. L. R.; ARAUJO, T. F.; NAHLE, M. C.; BARBOSA, E. R.; BOSCHETTI, G.; TEIVE, H. A.- Intraoperative Dopamine Release During Globus Pallidus Internus Stimulation in Parkinson's Disease(2013) MARTINEZ, Raquel C. R.; HAMANI, Clement; CARVALHO, Milene Cristina de; OLIVEIRA, Amanda Ribeiro de; ALHO, Eduardo; NAVARRO, Jessie; GHILARDI, Maria Gabriela dos Santos; BOR-SENG-SHU, Edson; HEINSEN, Helmut; OTOCH, Jose Pinhata; BRANDAO, Marcus Lira; BARBOSA, Egberto Reis; TEIXEIRA, Manoel Jacobsen; FONOFF, Erich TalamoniBackgroundIt is still unclear whether dopamine (DA) levels correlate with Parkinson's disease (PD) severity or play a role in the mechanisms of high-frequency stimulation (HFS). MethodsWe have used microdialysis to record pallidal DA in 5 patients with PD undergoing microelectrode-guided pallidotomy. ResultsWe found that patients with more severe disease and, consequently, lower pallidal DA did poorly after pallidal lesions. In the operating room, 4 of 5 patients had a significant increase in DA levels during HFS (600%, on average). To test the hypothesis that DA was important for the effects of stimulation, we correlated the amelioration in rigidity observed in the operating room with pallidal DA release. Though rigidity was 56% better during stimulation, no correlation was found between such an improvement and DA release. ConclusionsThese findings suggest that additional mechanisms not directly dependent on pallidal DA release may be involved in the clinical effects of HFS of the globus pallidus internus. (c) 2013 International Parkinson and Movement Disorder Society
- Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene(2013) BEM, Ricardo Schmitt de; RASKIN, Salmo; MUZZILLO, Dominique Araujo; DEGUTI, Marta Mitiko; CANCADO, Eduardo Luiz Rachid; ARAUJO, Thiago Ferreira; NAKHLE, Maria Cristina; BARBOSA, Egberto Reis; MUNHOZ, Renato Puppi; TEIVE, Helio Afonso GhizoniObjective: Wilson's disease (WD) is an inborn error of metabolism caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in a group of patients living in southern Brazil. Methods: 36 WD subjects were studied and classified according to their clinical and epidemiological data. In 23 subjects the ATP7B gene was analyzed. Results: Fourteen distinct mutations were detected in at least one of the alleles. The c.3207C>A substitution at exon 14 was the most common mutation (allelic frequency=37.1%) followed by the c.3402delC at exon 15 (allelic frequency=11.4%). The mutations c.2018-2030del13 at exon 7 and c.4093InsT at exon 20 are being reported for the first time. Conclusion: The c.3207C>A substitution at exon 14, was the most common mutation, with an allelic frequency of 37.1%. This mutation is the most common mutation described in Europe.
conferenceObject Executive function and educational status interfere with functional balance and locomotion in individuals with Parkinson's disease(2013) SOUZA, C. O.; VOOS, M. C.; CHEN, J.; FRANCATO, D.; CHIEN, H. F.; FONOFF, F.; GREVE, J.; FONOFF, E. T.; BARBOSA, E. R.