Assuntos
Transtornos da Nutrição do Lactente/sangue , Lipídeos/sangue , Eletroforese das Proteínas Sanguíneas , Proteínas Sanguíneas/isolamento & purificação , Proteínas Sanguíneas/metabolismo , Colesterol/sangue , Eletroforese em Papel , Ésteres/sangue , Ácidos Graxos não Esterificados/sangue , Humanos , Lactente , Lipídeos/isolamento & purificação , Lipoproteínas HDL/sangue , Lipoproteínas LDL/sangue , Nitrogênio/sangue , Fosfolipídeos/sangue , Desnutrição Proteico-Calórica/sangue , Albumina Sérica/metabolismo , Soroglobulinas/metabolismo , Triglicerídeos/sangueRESUMO
We have estimated the haplotype distribution of mutant and normal phenylalanine hydroxylase (PAH) alleles for 17 Turkish phenylketonuria (PKU) families: 20 normal and 27 mutated PAH alleles could be identified. Of the latter, the most prevalent were associated with haplotype 6 (29.6%), 1 (18.5%) and 36 (11.1%), while the normal alleles were preferentially associated with haplotype 1 (20%). Of the 19 different haplotypes observed, 5 have not been described previously. The haplotype distribution differed significantly from that of the Northern European population. Two of the eight polymorphic sites were in association with PKU. No deletions of exon sequences were found in the families analysed.
Assuntos
Fenilalanina Hidroxilase/genética , Fenilcetonúrias/genética , Alelos , Feminino , Frequência do Gene , Haplótipos , Humanos , Masculino , Polimorfismo de Fragmento de Restrição , TurquiaRESUMO
A case of Kasabach-Merritt syndrome that developed following needle aspiration in an infant with hemangioma is presented. Enlargement of the tumor leading to severe respiratory distress accompanied by hemorrhages occurred within six to eight hours after this simple intervention. The symptoms continued despite repeated thrombocyte transfusions and prednisolone therapy. Radiotherapy and local intraarterial corticosteroid therapy were attempted and led to some improvement. It took approximately three months for the platelet count and one year for the clinical state to revert to normal. This case illustrates that minor trauma may lead to life-threatening symptoms in a young infant with congenital hemangioma.