Antioxidant vitamins and hyperbilirubinemia in neonates

Objective: Low antioxidant system may contribute to the severity of neonatal hyperbilirubinemia. The aim of this research was to explore the relationship between plasma vitamin E and C levels and the severity of hyperbilirubinemia in full-term neonates with normal glucose 6-phosphate dehydrogenase (G6PD) activities

Serological screening for celiac disease in schoolchildren in Jordan. Is height and weight affected when seropositive?

<p>Abstract</p> <p>Background</p> <p>Celiac disease (CD) emerged as a public health problem, and the disease prevalence varies among different races. The present study was designed to investigate the prevalence of CD using serological markers in apparently healthy schoolchildren in Irbid City, Jordan. Additionally, the effect of positive serology on height, weight and body mass index (BMI) was evaluated.</p> <p>Methods</p> <p>The study population consisted of 1985 children (1117 girls and 868 boys), age range was 5.5 to 9.5 years. Height and weight were measured and blood samples were collected from each individual. Serum samples were analyzed for IgA anti-tissue transglutaminase antibodies (tTG) using a commercial enzyme-linked immunosorbent assay (ELISA). tTG positive samples were further analyzed for IgA anti-endomysium antibodies (EmA) with a commercial ELISA. Samples confirmed positive with EmA were considered seropositive.</p> <p>Results</p> <p>Sixteen children were CD positive. The serological prevalence was estimated to be 1:124 (0.8%; 95% CI, 0.5% to 1.3%). Significant impact on growth (height) was found in seropositive children. When both sexes were individually analyzed, only boys showed height reduction. Furthermore, seropositive boys also had a significant weight reduction.</p> <p>Conclusion</p> <p>This study demonstrated that CD is prevalent among schoolchildren in Jordan. The seropositive children tend to have lower height, weight, and BMI than the seronegative group. These differences were significant only for boys. None of the participants is known to have CD prior to the study.</p

Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism

<p>Abstract</p> <p>Background</p> <p>Parkinson's disease is a progressive neurodegenerative disorder, where most cases are sporadic with a late onset. In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often explained by mutations in either the <it>parkin </it>(PARK2) or <it>PINK1 </it>(PARK6) gene or on exceptional occasions the <it>DJ-1 </it>(PARK7) or <it>ATP13A2 </it>(PARK9) gene. Recessively inherited deletions/duplications and point mutations in the <it>parkin </it>gene are the most common cause of early-onset parkinsonism known so far, but in an increasing number of studies, genetic variations in the serine/threonine kinase domain of the <it>PINK1 </it>gene are found to explain early-onset parkinsonism.</p> <p>Methods</p> <p>In this study all families were from a population with a high incidence of consanguinity. We investigated 11 consanguineous families comprising 17 affected with recessively inherited young-onset parkinsonism for mutations both in the <it>parkin </it>and <it>PINK1 </it>gene. Exons and flanking regions were sequenced, and segregation patterns of genetic variation were assessed in members of the respective families. An exon dosage analysis was performed for all exons in both genes.</p> <p>Results</p> <p>In the <it>parkin </it>gene, a three generation family was identified with an exon 4 deletion segregating with disease. Both affected were homozygous for the deletion that segregated on a haplotype that spanned the gene in a haplotype segregation analysis that was performed using additional markers. Exon dosage analysis confirmed the recessive pattern of inheritance with heterozygous deletions segregating in healthy family members. In the <it>PINK1 </it>gene we identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved motif of the serine/threonine kinase domain. Both substitutions segregated with disease in agreement with a recessive pattern of inheritance within respective families and both were present as homozygous in two affected each. We also discuss common polymorphisms in the two genes found to be co-segregating within families.</p> <p>Conclusion</p> <p>Our results further extend on the involvement of <it>PINK1 </it>mutations in recessive early-onset parkinsonism with clinical features similar to carriers of <it>parkin </it>mutations.</p

Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates

Objective: The mechanism by which glucose-6-phosphate dehydrogenase (G6PD) deficiency causes neonatal hyperbilirubinemia is not completely understood. However, the genetic disorder G6PD deficiency predisposes red blood cells to oxidative stress. The aim of this study was to establish the relationship between plasma antioxidant vitamin (E and C) levels and the development of hyperbilirubinemia in full-term neonates with deficient G6PD. Methods: A total of 196 live birth neonates of healthy mothers were included in this study. Twelve of them were deficient in G6PD. In addition to demographic data, serum total bilirubin, hemoglobin, hematocrit, and vitamin E and C levels were measured on the first day after birth.Results: Neonates with G6PD deficiency (n=7) who did not develop hyperbilirubinemia (mean serum bilirubin level of 70.8±23 µmol/l, median 71.8) and neonates with G6PD deficiency (n=4) who developed hyperbilirubinemia (mean serum bilirubin level of 226.7±79 µmol/l, median 233.4) on the first day of life had similar gestational weights and age. The second group, however, had lower hemoglobin and hematocrit as well as plasma vitamin C and E levels. None of these results showed significant difference. Conclusion: The results of the present study indicate that red blood cell hemolysis as a result of inadequate antioxidants system in G6PD-deficient neonates is not the only contributing factor for hyperbilirubinemia