In order to explore the nature of glucose-6-phosphate dehydrogenase (G6PD) deficiency in one of the coastal provinces of the Caspian Sea (Mazandaran) in Iran, we have analysed the G6PD gene in 74 unrelated G6PD-deficient males (2-6 year children) with a history of Favism, by using PCR and subsequent digestion by appropriate restriction enzymes, looking for the presence of certain known mutation...

BACKGROUND An exchange transfusion involves replacing patient's blood with donor blood in order to remove abnormal blood components and circulating toxins while maintaining adequate circulating blood volume. OBJECTIVE To observe the incidence, causes of jaundice requiring Exchange and any adverse event of exchange transfusion in newborns with unconjugated hyperbilirubinemia. METHOD Prospect...

Erythrocyte glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder (Browne, 1957). According to Gross, Hurwitz, and Marks (1958) males who are hemizygous for this disorder have low enzyme levels which vary from 0 to 20% of normal, and haemolysis occurs in association with exposure to certain drugs or illness. On the other hand, heterozygous females have intermedi...

The relationships between gene dosage, enzyme activities and CRM levels have been determined for G6PD and 6PGD. Enzyme activities and CRM levels were directly proportional and increased in genotypes carrying duplications of the respective structural genes. When a duplication consisting of the distal 45% of the X chromosome was used to duplicate Pgd+, 6PGD activity and CRM increased and G6PD act...

Background: Bilirubin encephalopathy is a clinical syndrome, associated with bilirubin toxicity in the central nervous system, resulting in chronic and permanent sequelae. It has been estimated that approximately 60% and 80% of term and preterm newborns develop jaundice in the first week of life, respectively. In the present study, we aimed to determine the prevalence, morbidity, and mortality ...

Ectopic glucose-6-phosphate dehydrogenase (G6PD) expression may contribute to tumorigenesis in cervical cancer associated with high-risk human papillomavirus (HR-HPV 16 and 18) infections. Here, we demonstrate that microRNA-1 (miR-1) in association with AGO proteins targets G6PD in HR-HPV-infected human cervical cancer cells. miR-1 inhibited expression of a reporter construct containing a putat...

how to cite this article: khalessi n, khosravi n, mirjafari m, afsharkhas l. plasma ammonia levels in newborns with asphyxia. iran j child neurol. winter 2016; 10(1):42-46. abstract objective perinatal asphyxia may result in hypoxic damage in various body organs, especially in the central nervous system. it could induce cascade of biochemical events leading to the cell death and metabolic chang...

An 18 year old male, known case of Type 1 Diabetes Mellitus was admitted in view of diabetic ketoacidosis. With normalization of blood sugars patient developed gross reddish discoloration of urine. Urine routine microscopy did not reveal RBCs or RBC casts. Peripheral blood smear revealed bite cells, Heinz bodies and spherocytes. Thus a diagnosis of hemolytic anemia with hemoglobinuria was made....

The expression of XIST, G6PD, HPRT, ZFX and ZFY were investigated in in-vitro produced bovine embryos. Transcripts of these genes were assayed by RT-PCR in pools of pre-compaction stage embryos and sexed pools of morulae and blastocysts. The expression of XIST, G6PD, HPRT and ZFX in female and male morulae and blastocysts were compared using a semi-quantitative RT-PCR. G6PD, HPRT and ZFX transc...