OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia.

OPG/RANK/RANKL axis was reportedly involved in initiating various diseases, especially bone and cardiovascular diseases. This study aimed to assess the relationship between some OPG, RANK, and RANKL polymorphisms and alleles and iron-overload-induced cardiomyopathy in children with transfusion-dependent thalassemia (TDT). This study included 80 TDT children and 80 age and sex-matched controls. Real-time PCR was done for rs207318 polymorphism for the OPG gene and rs1805034, rs1245811, and rs75404003 polymorphisms for the RANK gene, and rs9594782 and rs2277438 polymorphisms for the RANKL gene. Cardiac T2* MRI and ejection fraction (EF) were done to assess the myocardial iron status and cardiac function. In this study, there were no significant differences in frequencies of the studied polymorphisms between cases and controls (p > 0.05 in all). In TDT children, OPG rs2073618 (G > C) had a significant relation to myocardial iron overload (p = 0.02). Its C allele had significantly more frequent normal EF than its G allele (p = 0.04). RANK rs75404403 (C > DEL) had a significant relation to cardiac dysfunction (p = 0.02). Moreover, the C allele of that gene had significantly more frequent affected EF than its DEL allele (p = 0.02). The A allele of RANKL rs2277438 (G > A) had significantly less frequent severe cardiac iron overload than the G allele (p = 0.04). In conclusion, the OPG/ RANK/RANKL genes may act as genetic markers for iron-induced cardiomyopathy in TDT children. Some of the studied genes' polymorphisms and alleles were significantly related to myocardial iron overload and cardiac dysfunction in TDT children.

Assessment of psychological disorders in Egyptian children with hearing impairment.

Impairment of hearing is a common birth defect which may be associated with varieties of psychological abnormalities in childhood. Knowledge and research of such issue are much lacking in Egypt; so the aim of the current study was to characterize and assess various psychological co-morbidities which could occur among hearing-impaired children. This prospective study has been conducted on a total of 40 male children, with age range between 7 and 12 years, divided into two groups. Group I included 20 children with different degrees of hearing impairment (HI), and Group II included 20 age-matched, healthy children with normal hearing. The studied children have been recruited from two schools (Al Amal School for the Deaf and Dumb, and Copts School) at Minia City, Minia Governorate, Egypt. Psychometric assessment, electroencephalography (EEG), and audiological evaluation were done for all included children. EEG abnormalities and anxiety scores were significantly higher in patients group compared with controls (p < 0.05); however, intelligence quotient did not differ. The present study revealed that HI is associated with psychological and EEG abnormalities. Early management of these children is expected to improve their quality of life.

Assessment of platelets morphological changes and serum butyrylcholinesterase activity in children with diabetic ketoacidosis: a case control study.

BACKGROUND: Many studies indicated that mean platelet volume (MPV) and platelet distribution width (PDW) may be valuable in the diagnosis and management of clinical disorders; also, serum butyrylcholinesterase activity (BChE) was suggested to be linked to systemic inflammation and oxidative stress. Limited studies measured these readily available markers in children with diabetic ketoacidosis (DKA). Our objectives were to measure MPV, PDW and BChE in children with DKA; and to assess if any of these markers reflects the severity of DKA. METHODS: Our study included: 30 children with DKA (DKA group), 30 diabetic children (Non-DKA group) and 30 apparently healthy children (control group). MPV, PDW and BChE were measured in all children. Additional blood samples were withdrawn from the DKA group to assess these markers at discharge from hospital. RESULTS: MPV, PDW and BChE were significantly altered in the DKA group than the other two groups; and their levels improved significantly at discharge of the DKA group (p < 0.05). The three markers were found to equally to predict the presence of DKA, but MPV was the most suitable risk marker for DKA diagnosis (OR = 4.251, CI 95% =1.463-12.351, p = 0.003). Regarding their relation with DKA severity, they did not correlate significantly with arterial PH or serum HCO3- (p > 0.05). CONCLUSION: DKA in children is associated with changes in MPV, PDW and BChE activity, which improve after resolution of the condition. Elevated MPV can be a suitable risk marker for DKA. None of the studied markers correlated with the severity of DKA.