RESUMO
Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.
Assuntos
Hiperpigmentação , Deficiência de Vitamina B 12 , Transportadores de Cassetes de Ligação de ATP/genética , Feminino , Homozigoto , Humanos , Hiperpigmentação/genética , Mutação , Proteínas de Transporte Nucleocitoplasmático/genética , Proteínas de Transporte Nucleocitoplasmático/metabolismo , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/complicaçõesAssuntos
Animais , Comportamento Alimentar , Anuros/fisiologia , Dieta/veterinária , Zona Semiárida , BrasilRESUMO
Recently a Brazilian researcher has received great attention in national and international media by prize Rising Talents from L'Oreal's For Women in Science program 2016, which has partnered with Unesco and the Brazilian Academy of Sciences, and awards women scientists who have contributed significantly to the advancement of Science. However, locally, what does this award represent? Does it, in fact, demonstrate a greater participation of women in science? How is the participation of women scientists in Piauí? What is the representativeness of women in the publications of herpetology in Piauí?(AU)