3 research outputs found
Hereditary angioedema by C1 inhibitor-deficit: Diagnostic and therapeutic challenges. Case report
Background: Hereditary angioedema is a disease which manifests itself with episodes of spontaneous edema on skin, mucosal and airway. Treatment includes acute and prophylactic approach to minimize the attacks and severity. In many parts of the world, androgen derivatives, antifibrinolytic and fresh frozen plasma are the therapies available for prophylaxis.
Case report: 16 years old teenager without history of immune decease, has in the course of 1-year repetitive episodes of painless, non-pruritic angioedema, does not respond to antihistamine therapy, corticosteroids or adrenaline; fresh frozen plasma is applied in 1 occasion exacerbating episode with severity. The diagnosis is delayed because of the unavailability of the study in the country, so it is shipped abroad confirming the deficit of C1 Inhibitor (7.1 μg/mL). Initiating prophylactic therapy with Danazol, with subsequent episodes decreased.
Conclusion: The delay diagnosis involves considerable risk in these patients; the importance of long-term prophylactic treatment is ratified in the use of androgens, being as an available option in developing countries
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A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in
history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale
population structure of descendants of the African Diaspora remains largely uncharacterized. Here we
present genetic variation from deeply sequenced genomes of 642 individuals from North and South
American, Caribbean and West African populations, substantially increasing the lexicon of human
genomic variation and suggesting much variation remains to be discovered in African-admixed populations
in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial
sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the
burden of deleterious variants carried across populations and how this varies with African ancestry. Our
data are an important resource for empowering disease mapping studies in African-admixed individuals
and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry
Recommended from our members
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome
The African Diaspora in the Western Hemisphere represents one of the largest forced migrations in
history and had a profound impact on genetic diversity in modern populations. To date, the fine-scale
population structure of descendants of the African Diaspora remains largely uncharacterized. Here we
present genetic variation from deeply sequenced genomes of 642 individuals from North and South
American, Caribbean and West African populations, substantially increasing the lexicon of human
genomic variation and suggesting much variation remains to be discovered in African-admixed populations
in the Americas. We summarize genetic variation in these populations, quantifying the postcolonial
sex-biased European gene flow across multiple regions. Moreover, we refine estimates on the
burden of deleterious variants carried across populations and how this varies with African ancestry. Our
data are an important resource for empowering disease mapping studies in African-admixed individuals
and will facilitate gene discovery for diseases disproportionately affecting individuals of African ancestry