Triagem familiar para o gene HBB*S e detecção de novos casos de traço falciforme em Pernambuco

Bandeira, Flavia Miranda Gomes C; Santos, Magnun Nueldo Nunes; Bezerra, Marcos André M; Gomes, Yara M.; Araújo, Aderson S; Braga, Cynthia; Souza, Wayner Vieira de; Abath, Frederico G. C.

doi:10.1590/s0034-89102008005000002

Cited by 10 publications

(5 citation statements)

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“…As informações, oferecidas por meio de sessões de aconselhamento genético, têm a finalidade de sensibilizar as pessoas para a importância do diagnóstico e tratamento precoce das doenças falciformes ou mesmo subsidiar casais na tomada de decisões reprodutivas. Nos estados brasileiros onde a triagem para hemoglobinopatias integra o PNTN, os pais de crianças com o traço falciforme são convidados a sessões de aconselhamento genético que podem ser individuais ou coletivas 8,25,31 . No Programa de Triagem Neonatal do Distrito Federal, as sessões de aconselhamento genético são destinadas, preferencialmente, aos pais de crianças diagnosticadas com doenças falciformes e hemoglobinopatias.…”

Section: Discussionunclassified

Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006

et al. 2009

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To determine the prevalence of sickle cell trait and sickle cell anemia among newborns in the Federal District, Brazil, a cross-sectional prevalence study covering the years 2004 to 2006 was conducted. Test results reported from the Neonatal Screening Program in the Federal District Health Department from 2004 to 2006 were analyzed, and prevalence rates were calculated. Neonatal blood samples were tested by isoelectric focalization. From January 2004 to December 2006, 116,271 newborns were tested for hemoglobinopathies, corresponding to 85% of all live births from mothers residing in the Federal District. The study identified 3,760 newborns with sickle cell trait (Hb AS) and 109 with sickle cell anemia (Hb SS). The prevalence rates were 323 (Hb AS) and 9 (Hb SS) per 10,000 live births. The high prevalence of sickle cell trait highlights the importance of neonatal screening in the Federal District to support work by health managers and professionals for planning educational measures and reducing the morbidity associated with sickle cell disease.

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Section: Discussionunclassified

Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006

et al. 2009

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“…No estado da Bahia foi detectado que 88,9% de uma população quilombola também não possuíam conhecimentos sobre o tema. Em estudo familiar para o gene da HbS no estado de Pernambuco, 81,0% da população estudada desconheciam a doença falciforme, revelando que qualquer intervenção relativa à triagem e orientação genética de uma população deve ser seguida de informação e debate dentro da própria comunidade, já que a informação sobre a doença falciforme leva o sujeito a identificá-la e a buscar mais informação e atendimento especializado, enquanto que a desinformação leva à sua estigmatização [30][31][32][33] .…”

Section: Resultsunclassified

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Soares

Lima

Silva

et al. 2017

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“…The recent discovery that 2B adenosine receptor plays an important role in sickle cell anemia paves the way to develop innovative therapeutic agents to deal with this debilitating syndrome which affects as much as 0.1-0.3% of the population of Brazil and 20% of African adults 33,34 . This challenge is made a bit easier by the fact that extensive research has already been conducted on AdoRA2B for asthma treatment.…”

Section: Resultsmentioning

confidence: 99%

Quantitative insights towards the design of potent deazaxanthine antagonists of adenosine 2B receptors

Paz

Brito

Castilho

2013

Journal of Enzyme Inhibition and Medicinal Chemistry

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Adenosine receptors have been considered as potential targets for drug development, but one of the main obstacles to this goal is to selectively inhibit one receptor subtype over the others. This subject is particularly crucial for adenosine A2b receptor antagonists (AdoRA2B). The structure–activity relationships of xanthine derivatives which are AdoRA2B have been comprehensively investigated, but the steric and electronic requirements of deazaxanthine AdoRA2B have not been described from a quantitative standpoint of view. Herein we report our efforts to shorten this knowledge gap through 2D-QSAR (HQSAR) and 3D-QSAR (CoMFA) approaches. The good statistical quality (HQSAR--r(2) = 0.85, q(2)(LOO) = 0.77; CoMFA – r(2) = 0.86, q(2) = 0.70) and predictive ability (r(2) = (pred1) = 0.78, r(2)(pred2) = 0.78 and r(2) = (pred1) = 0.70, r(2) = (pred2) = 0.70,respectively) of the models, along with the information provided by contribution and contour maps hints their usefulness to the design of more potent 9-deazaxanthine derivatives.

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Triagem familiar para o gene HBB*S e detecção de novos casos de traço falciforme em Pernambuco

Abstract: These results indicate that family screening for the identification of sickle-cell carriers should be extended to first degree relatives.

Cited by 10 publications

References 15 publications

Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006

Prevalência do traço e da anemia falciforme em recém-nascidos do Distrito Federal, Brasil, 2004 a 2006

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

Quantitative insights towards the design of potent deazaxanthine antagonists of adenosine 2B receptors

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