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
29 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 29
- Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease(2014) ARRUDA, Walter O.; MUNHOZ, Renato P.; BEM, Ricardo S. de; DEGUTI, Marta M.; BARBOSA, Egberto Reis; ZAVALA, Jorge A.; TEIVE, Helio A. G.The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51 + 4A -> T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.
- Specificity and sensibility of 9-Itens Wearing-off Questionnaire in Brazilian Parkinson disease patient sample(2014) SANTOS, Jasper Guimaraes; CHIEN, Hsin Fen; BARBOSA, Egberto ReisObjective: (1) To evaluate whether the Nine Items Questionnaire (WOQ-9) for the detection of wearing-off (WO) in Parkinson Disease (PD), by means of its screening ability, is a helpful tool to assist neurologists in diagnosing WO; (2) To determine the sensitivity and the specificity of a free Brazilian Portuguese translation of WOQ-9. Method: A sample obtained by convenience included 60 patients. The WOQ-9 was answered by the patients themselves before their routine consultations. The detection of the WO by the WOQ-9 was compared with the neurologist assessment. Statistical significance was 5%. Results: The WOQ-9 showed sensitivity of 100%, specificity of 10.3%, positive and negative predictive values of 54.4% and 100% respectively. The identification of WO by the WOQ-9 was congruent in 54.5% of cases with neurological evaluation. Conclusion: The WOQ-9 is a convenient screening tool to aid physicians to detect WO in PD patients, and it is a quick and easy self-administered questionnaire.
- Frequency of the LRRK2 G2019S mutation in late-onset sporadic patients with Parkinson's disease(2014) CHIEN, Hsin Fen; FIGUEIREDO, Tamires Rocha; HOLLAENDER, Marianna Almeida; TOFOLI, Fabiano; TAKADA, Leonel Tadao; PEREIRA, Lygia do Veiga; BARBOSA, Egberto ReisMutations in the LRRK2 gene, predominantly G2019S, have been reported in individuals with autosomal dominant inheritance and sporadic Parkinson's disease (PD). The G2019S mutation has an age-dependent penetrance and evidence shows common ancestry. The clinical manifestations are indistinguishable from idiopathic PD. Its prevalence varies according to the population studied ranging from less than 0.1% in Asians to 41% in North African Arabs. This study aimed to identify G2019S mutation in Brazilian idiopathic PD patients. Method: We sampled 100 PD patients and 100 age- and gender-matched controls. Genetical analysis was accomplished by polymerase chain reaction (PCR). Results: No G2019S mutations were found in both patients with sporadic PD and controls. Conclusions: Our results may be explained by the relatively small sample size.
conferenceObject Follow up in long-term global motor training with rythmical auditory cues improve and maintain gait and balance control in Parkinson's disease (PD)(2014) CAPATO, T.; GUIMARAES, R.; LOUISE, A.; KAYO, I.; TORNAI, J.; BARBOSA, E. R.; PIEMONTE, M. E.conferenceObject Correlation between pain, other non-motor symptoms, quality of life and motor improvement in patients with Parkinson's disease after deep brain stimulation(2014) CURY, R. G.; GHILARDI, M. G.; GALHARDONI, R.; SOUZA, C.; FONOFF, F.; MARCOLIN, M. A.; MYCZKOWSKI, M. L.; TEIXEIRA, M. J.; BARBOSA, E. R.; FONOFF, E. T.; ANDRADE, D. Ciampi de- Sleep disordered breathing in Parkinson's disease: A critical appraisal(2014) SILVA-JUNIOR, Francisco P. da; PRADO, Gilmar F. do; BARBOS, Egberto R.; TUFIK, Sergio; TOGEIRO, Sonia M.Parkinson's disease (PD) is the second most common neurodegenerative disorder, characterized by resting tremor, rigidity, bradykinesia and postural instability, and is associated with non-motor features, including sleep abnormalities. The high prevalence of excessive daytime sleepiness and snoring in PD patients has led to the suggestion that sleep disordered breathing (SDB) is more common in these individuals than in normal subjects. We aimed to review the literature on SDB prevalence and its clinical repercussions in PD. A PubMed search was performed to identify controlled studies, published from January 1990 through October 2012, which addressed the prevalence of SDB diagnosed by polysomnography in idiopathic PD. From the seven studies included, five reported similar or lower prevalence of SDB in patients when compared to healthy age-matched controls. Two studies reported less oxyhemoglobin desaturation during sleep among patients. These results did not support the idea that PD patients are at increased risk of SDB and indicate that they may not present significant hypoxernia. The prevalence of obstructive sleep apnea syndrome and the long-term outcomes of disordered breathing events during sleep have not been adequately studied in PD.
conferenceObject Improvement of gait in Parkinson's disease patients submitted to deep brain stimulation with use of visual and auditory cues in eyeglasses: A preliminary study(2014) SOUZA, C. O.; VOOS, M. C.; BRANT, R.; FONOFF, F. C.; BARBOSA, E. R.; FONOFF, E. T.- Neurological status predicts response to alpha-blockers in men with voiding dysfunction and Parkinson's disease(2014) GOMES, Cristiano M.; SAMMOUR, Zein M.; BESSA JUNIOR, Jose de; BARBOSA, Egberto R.; LOPES, Roberto I.; SALLEM, Flavio S.; TRIGO-ROCHA, Flavio E.; BRUSCHINI, Homero; NITTI, Victor W.; SROUGI, MiguelOBJECTIVES: To evaluate predictors of the response to doxazosin, a selective alpha-adrenoceptor antagonist, when used for the treatment of lower urinary tract symptoms in men with Parkinson's disease. METHODS: In a prospective study, 33 consecutive men (mean age 59.2 +/- 7.0 years) with Parkinson's disease and lower urinary tract symptoms were evaluated. Neurological dysfunction was assessed with the Unified Parkinson's Disease Rating Scale. Urological assessment was performed at baseline and after 12 weeks of treatment with 4 mg/day of extended-release doxazosin, including symptom evaluation with the International Continence Society male short-form questionnaire, an assessment of the impact of lower urinary tract symptoms on quality of life and urodynamics. Clinical and urodynamic predictors of response were specifically evaluated. RESULTS: Compared with the score at baseline, the total International Continence Society male short-form score was reduced after doxazosin administration, from 17.4 +/- 7.5 to 11.1 +/- 6.9 (p<0.001). The impact of lower urinary tract symptoms on quality of life was also significantly reduced, from 1.8 +/- 1.1 to 1.0 +/- 1.0 (p<0.001) and the maximum urinary flow varied from 9.3 +/- 4.4 to 11.2 +/- 4.6 ml/s (p = 0.025). The severity of neurological impairment was the only predictor of the clinical response. Additionally, patients with a Unified Parkinson's Disease Rating Scale score lower than 70 had a significantly higher chance of clinical improvement with doxazosin treatment than those with higher Unified Parkinson's Disease Rating Scale scores did (RR = 3.10, 95% CI = [1.15 to 5.37], p = 0.011). CONCLUSIONS: Doxazosin resulted in the improvement of lower urinary tract symptoms and the maximum flow rate and was well tolerated in men with Parkinson's disease. The response to treatment is dependent on the severity of neurological disability.
- Novel THAP1 variants in Brazilian patients with idiopathic isolated dystonia(2014) SILVA-JUNIOR, Francisco Pereira da; SANTOS, Camila Oliveira dos; SILVA, Sonia Maria Cesar Azevedo; BARBOSA, Egberto Reis; BORGES, Vanderci; FERRAZ, Henrique Ballalai; LIMONGI, Joao Carlos Papaterra; ROCHA, Maria Sheila Guimaraes; AGUIAR, Patricia de CarvalhoTHAP1 mutations are associated with idiopathic isolated dystonia in different ethnicities, but the importance of this gene as a cause of dystonia in the Brazilian population has not been determined. The aim of this study was to investigate the prevalence of THAP1 variants in Brazilian patients with idiopathic dystonia and to describe their clinical characteristics including non-motor symptoms. One hundred and ten unrelated patients with non-TOR1A (DYT1) idiopathic isolated dystonia and family members were evaluated and screened for genetic variants. Variants with a potential pathological role were observed in 9.0% of families studied, of which four were novel. The variants were identified in approximately 12% of patients with the age of onset below 40 years. In most of the patients, the onset of the disease was before early adulthood. The upper limb was the most common site of the onset, and approximately half of the patients had dysphonia. Pain, anxiety, and sleep-onset insomnia were the most prevalent non-motor symptoms, and their prevalence was not different from that observed in THAP1-negative patients. Therefore, THAP1 variants are an important cause of dystonia among individuals with an early-onset disease and a positive family history. The phenotypical heterogeneity among patients carrying similar variants shows that other factors may be modulating the disease.
conferenceObject Quantitative evaluation of the effects of bilateral subthalamic deep brain stimulation (DBS) on balance in Parkinson's disease (PD)(2014) BRANT, R.; LUNA, N.; SOUZA, C. O.; SOUZA, C. P.; ANDRADE, D. C.; GREVE, J. M.; TEIXEIRA, M. J.; FONOFF, E. T.; BARBOSA, E. R.
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