Banca de QUALIFICAÇÃO: RIGOBERTO GADELHA CHAVES

Uma banca de QUALIFICAÇÃO de MESTRADO foi cadastrada pelo programa.

DISCENTE: RIGOBERTO GADELHA CHAVES

DATA: 22/10/2010

HORA: 09:00

LOCAL: Sala do PPGCSa

TÍTULO:

Screening Populacional para doença de Gaucher a partir da análise da β-glucosidase ácida e quitotriosidase em papel de filtro. Tabuleiro do Norte, Ceará, Brasil, uma população de risco

PALAVRAS-CHAVES:

doença de Gauher; beta glucosidades, tabuleiro do Norte-CE

PÁGINAS: 11

GRANDE ÁREA: Ciências Biológicas

ÁREA: Bioquímica

RESUMO:

In Tabuleiro do Norte (TN), a small town in Ceará state, Northeastern Brazil, with approximately 28´000 inhabitants, many of whom of Jewish descent, 10 patients with Gaucher´s disease (GD) (43% of all cases in Ceará) and 7 patients are currently receiving enzyme replacement therapy. Would GD in TN be associated with the families of already diagnosed patients only, or could there be other families in the community for which the problem has not yet been detected? This important question led to the design of this research. The study analyzed the results from the screening of 740 subjects in TN from June 2007 to May 2008 with assays of acid β-glucosidase and chitotriosidase on filter paper. Results: Acid β-glucosidase levels of 0.4-1.37, 1.38-1.60, 1.61-2.18 and 2.19-16.6nmol/h/mL were found for 18, 24, 93 and 605 subjects, respectively. Consequently, 135 subjects (18.32%) were submitted to enzyme analysis of leukocytes. Conclusion: The population in TN constitutes a risk group for GD due to extensive intermarrying and consanguinity. We hope that existing cases of GD should be diagnosed as early as possible and genetic counseling should be provided to prevent the emergence of new cases.

MEMBROS DA BANCA:
Interno - 346138 - ALDO DA CUNHA MEDEIROS
Presidente - 6349161 - GERALDO BARROSO CAVALCANTI JUNIOR
Externo ao Programa - 1306690 - TELMA MARIA ARAUJO MOURA LEMOS