FABIO HENRIQUE DE GOBBI PORTO
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Psiquiatria, Hospital das Clínicas, Faculdade de Medicina
LIM/21 - Laboratório de Neuroimagem em Psiquiatria, Hospital das Clínicas, Faculdade de Medicina
LIM/21 - Laboratório de Neuroimagem em Psiquiatria, Hospital das Clínicas, Faculdade de Medicina
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Resultados de Busca
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- Prevalence of Cognitive Impairment Without Dementia and Dementia in Tremembe, Brazil(2016) CESAR, Karolina G.; BRUCKI, Sonia M. D.; TAKADA, Leonel T.; NASCIMENTO, Luiz F. C.; GOMES, Camila M. S.; ALMEIDA, Milena C. S.; OLIVEIRA, Maira O.; PORTO, Fabio H. G.; SENAHA, Mirna L. H.; BAHIA, Valeria S.; SILVA, Thais B. L.; IANOF, Jessica N.; SPINDOLA, Livia; SCHMIDT, Magali T.; JORGE, Mario S.; VALE, Patricia H. F.; CECCHINI, Mario A.; CASSIMIRO, Luciana; SOARES, Roger T.; GONCALVES, Marcia R.; MARTINS, Ana C. S.; DARE, Patricia; SMID, Jerusa; PORTO, Claudia S.; CARTHERY-GOULART, Maria T.; YASSUDA, Monica S.; MANSUR, Leticia L.; NITRINI, RicardoBackground:The prevalence of cognitive impairment is insufficiently determined in developing countries. The aim of this study was to ascertain the prevalence of cognitive impairment without dementia and dementia in community-dwelling elderly in Brazil.Methods:This was a single-phase cross-sectional survey of the elderly (aged 60 years and above) living in the municipality of Tremembe, Brazil. Twenty percent of the households with elderly persons were randomly selected from urban and rural areas, to obtain a homogenous representation of all socioeconomic and cultural levels.Results:We assessed 630 individuals [mean age, 71.3 y (7.99); mean years of education, 4.9 (+/- 4.54)] and found prevalence rates of 17.5% (95% confidence interval, 14.6-20.6) for dementia and 19.5% (95% confidence interval, 16.6-22.8) for cognitive impairment without dementia. These prevalence rates were influenced by age (P<0.001) and by educational level (P<0.001). There was no significant sex difference among diagnostic groups (P=0.166). The prevalence of dementia was higher in relatively younger individuals (below 70 y) when compared with other studies. Besides, dementia was associated with low socioeconomic status, stroke, previous psychiatric disorder, alcoholism, and epilepsy.Conclusions:The prevalence of dementia in this study was higher than in other studies, particularly among younger elderly.
- GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil(2016) TAKADA, Leonel T.; BAHIA, Valeria S.; GUIMARAES, Henrique C.; COSTA, Thais V. M. M.; VALE, Thiago C.; RODRIGUEZ, Roberta D.; PORTO, Fabio H. G.; MACHADO, Joao C. B.; BEATO, Rogerio G.; CESAR, Karolina G.; SMID, Jerusa; NASCIMENTO, Camila F.; GRINBERG, Lea T.; BRUCKI, Sonia M. D.; MAXIMINO, Jessica R.; CAMARGOS, Sarah T.; CHADI, Gerson; CARAMELLI, Paulo; NITRINI, RicardoBackground: Mutations in GRN (progranulin) and MAPT (microtubule-associated protein tau) are among the most frequent causes of monogenic frontotemporal dementia (FTD), but data on the frequency of these mutations in regions such as Latin America are still lacking. Objective: We aimed to investigate the frequencies of GRN and MAPT mutations in FTD cohorts from 2 Brazilian dementia research centers, the University of Sao Paulo and the Federal University of Minas Gerais medical schools. Methods: We included 76 probands diagnosed with behavioral-variant FTD (n = 55), semantic-variant Primary Progressive Aphasia (PPA) (n = 11), or nonfluent-variant PPA (n = 10). Twenty-five percent of the cohort had at least 1 relative affected with FTD. Results: Mutations in GRN were identified in 7 probands, and in MAPT, in 2 probands. We identified 3 novel GRN mutations (p.Q130X, p.317Afs*12, and p.K259Afs*23) in patients diagnosed with nonfluent-variant PPA or behavioral-variant FTD. Plasma progranulin levels were measured and a cutoff value of 70 ng/mL was found, with 100% sensitivity and specificity to detect null GRN mutations. Conclusions: The frequency of GRN mutations was 9.6% and that of MAPT mutations was 7.1%. Among familial cases of FTD, the frequency of GRN mutations was 31.5% and that of MAPT mutations was 10.5%.