ABSTRACT
Background:Juvenile idiopathic arthritis (JIA) represents a heterogeneous group of autoimmune diseases that arises before the age of 16 years and lasts more than 6 months. During acute inflammation of the disease, serum copper concentration increases and zinc decreases, that could point to the possible pharmacological properties of these trace elements. Aim:To measure the serum level of zinc and copper in patients with juvenile idiopathic arthritis (JIA) with different subtypes and correlate the levels of zinc and copper with the disease activity. Methods:This cross-sectional study was done on 40 patients already diagnosed clinically with JIA; patients were followed-up at the Rheumatology Outpatient Clinic, Children's Hospital, Cairo University. Results:Out of forty patients, 16were males (40%) and 24 were females (60%) with a male to female ratio (M: F) of 1:1.5. Out of the forty patients 17 were in activity and 23 were without activity. Thirty age and sex matched controls were included for comparison. Serum copper level was significantly higher in patients with JIA than those of the controls (P= 0.017) while there were no significant difference in serum level of zinc between JIA patients and that of the controls. Conclusion:Alteration of serum copper and zinc probably is a defense response against JIA; increased copper may be due to inflammation associated, these elements could serve as biomarkers for the disease activity.
ABSTRACT
Background: Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder with poorly understood and complex etiology. The central dopaminergic system is strongly implicated in ASD pathogenesis. Genes encoding various elements of this system have been linked to ASD. This study aimed to estimate the distribution frequency of dopamine D4 receptor-exon III repeat region polymorphic genotypes among Egyptian children with autism. Methods: This case-control study included 178 children with autism (mean age 4.46±1.72 years) (118 males and 60 females) and a normal control group (n=128) of matching age and gender. Assessments by DSMIV- TR criteria, Stanford-Binet intelligence scale and childhood autism rating scale (CARS) were done. Assay for DRD4 48 bp VNTR genotypes was performed on amplified DNA by RFLP-PCR. Results: The 4/4 allele had the highest frequency among both autistic (39.32%) and control children (62.5%), with no significant difference between them. The 7/7 allele had also a high frequency (33.7%) among autistic patients, which was significantly different (p˂0.05) from the control group (12.5%) Furthermore, 70% of the patients carrying the 7/7 allele had the lowest IQ scores (58.5±6.5). Conclusions: There is a strong evidence that the DRD4 7/7 allele might be a risk factor for autism.