Browsing by Author "Santos-Silva, Ermelinda"
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- Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromesPublication . Costa, Elísio; Vieira, Emília; Martins, Marcia; Saraiva, Jorge A.; Cancela, Eugénia; Costa, Miguel Rocha; Bauerle, Roswitha; Freitas, Teresa R.; Carvalho, João; Santos-Silva, Ermelinda; Barbot, José; Santos, RosárioWe describe the molecular study in a cohort of 120 Portuguese patients with the clinical diagnosis of Gilbert syndrome and in one with the diagnosis of Crigler–Najjar syndrome type II, as well as a prenatal diagnosis of Crigler–Najjar syndrome type I. Among the 120 unrelated patients with Gilbert syndrome, 110 were homozygous for the [TA]7 allele ([TA]7/[TA]7), and one patient was a compound heterozygote for two different insertions ([TA]7/[TA]8). The remaining 9 patients were heterozygous for the TA insertion ([TA]6/[TA]7). Additional studies in these 9 patients revealed heterozygosity for the c.674T>G, c.488_491dupACCT and c.923G>A mutations, in 1, 1 and 4 patients, respectively. The patient with Crigler–Najjar syndrome type II was a compound heterozygote for [TA]7 and the c.923G>A mutation. The undocumented polymorphisms c.-1126C>T and c.997-82T>C were also detected in the course of this study. Prenatal diagnosis in a family with a boy previously diagnosed as Crigler–Najjar syndrome type I and homozygosity for the c.923G>A mutation revealed that the fetus was unaffected. Homozygosity for the [TA] insertion was found to be the most frequent cause of GS in our population. Identification of further mutations in the UGT1A1 gene was also seen to contribute significantly towards diagnosis.
- Crise aplástica como forma de apresentação de anemia hemolítica hereditáriaPublication . Lima, Lucínia; Gonçalves, Sara; Branca, Rosa; Costa, Elísio; Santos-Silva, Ermelinda; Araújo, Isabel; Barbot, JoséOs autores descrevem dois casos clínicos de crise aplásica como forma de apresentação de anemia hemolítica hereditária. Um dos casos correspondia a uma esferocitose hereditária e o outro a um fenótipo híbrido entre esferocitose hereditária e eliptocitose hereditária denominado de eliptocitose hereditária esferocítica. Ambos se apresentaram com uma anemia grave, de carácter agudo, arregenerativa, na sequência de um episódio de infecção das vias aéreas superiores. Nos dois casos, foi confirmada serologicamente a infecção aguda por parvo vírus B 19.
- TATA-box polymorphism in the urine diphosphate glucuronosyl transferase gene in Portuguese patients with clinical diagnosis of gilbert syndromePublication . Costa, Elísio; Vieira, Emília; Santos-Silva, Ermelinda; Barbot, José; Santos, Rosário