RESUMO
Pyruvate kinase (PK) is a key enzyme of anaerobic glycolysis. The genetic heterogeneity of PK deficiency (PKD) is high, and over 400 unique variants have been identified. Twenty-nine patients who had been diagnosed as PKD genetically in seven distinct paediatric haematology departments were evaluated. Fifteen of 23 patients (65.2%) had low PK levels. The PK:hexokinase ratio had 100% sensitivity for PKD diagnosis, superior to PK enzyme assay. Two novel intronic variants (c.695-1G>A and c.694+43C>T) have been described. PKD should be suspected in patients with chronic non-spherocytic haemolytic anaemia, even if enzyme levels are falsely normal. Total PKLR gene sequencing is necessary for the characterization of patients with PKD and for genetic counselling.
Assuntos
Anemia Hemolítica Congênita não Esferocítica , Íntrons , Piruvato Quinase , Erros Inatos do Metabolismo dos Piruvatos , Humanos , Piruvato Quinase/deficiência , Piruvato Quinase/genética , Masculino , Feminino , Erros Inatos do Metabolismo dos Piruvatos/genética , Criança , Pré-Escolar , Anemia Hemolítica Congênita não Esferocítica/genética , Turquia , Lactente , Adolescente , MutaçãoRESUMO
ABSTRACT Introduction: Custodiol (histidine-tryptophan-ketoglutarate) and repetitive blood cardioplegia are the solutions for myocardial protection and cardiac arrest. In this study, we aimed to compare immunohistochemical analysis, clinical outcomes, and cardiac enzyme values of Custodiol and blood cardioplegia groups. Methods: This was a randomized prospective study consisting of 2 groups and 20 patients, 10 patients for each group, who underwent mitral and mitral/tricuspid valve surgery. Group 1 was formed for Custodiol cardioplegia and group 2 for blood cardioplegia. Perioperative and postoperative cardiac events were recorded, cardiac enzymes were analyzed with intervals, and myocardial samples were taken for immunohistochemical analysis. Recorded data were statistically evaluated. Results: There was no significant difference for the Custodiol and blood cardioplegia groups in perioperative and postoperative cardiac performance and adverse events. Cardiac enzyme analysis showed no significant difference between groups. However, two parameters (eNOS, Bcl-2) were in favor of the Custodiol group in immunohistochemical studies. Custodiol performed better in cellular oxidative stress resistance and cellular viability. Conclusion: Clinical outcomes and cardiac enzyme analysis results were similar regarding myocardial protection. However, Custodiol performed better in the immunohistochemical analysis.