Vitamin D and left ventricular dysfunction in pediatric dialysis patients; a tissue doppler study.

Background: Assessment of the left ventricular function in the dialysis children and explore its association with vitamin D level and markers reflecting calcium and phosphate metabolism.

Methods: In this case-control study, we enrolled forty children on regular hemodialysis and forty healthy controls from July 2019 to March 2020 at the pediatric dialysis unit. Echocardiographic evaluation using both conventional and Tissue Doppler Imaging (TDI) was done for all subjects.

Association between Glutamine 27 Polymorphism of B2 Adrenergic Receptor and Bronchial Asthma in Children.

Bronchial asthma is one of the most prevailed non-communicable diseases among Egyptian children. Genetic-environmental interaction can influence the nature of asthma and β2 agonists are the most commonly prescribed bronchodilators for relieving asthma symptoms. This study was conducted to investigate the possible relationship between Gln27/Glu polymorphism of ADRβ2 and bronchial asthma susceptibility, severity and responsiveness to Albuterol in Egyptian children.

The association of PTPN22 (rs2476601) and IL2RA (rs11594656) polymorphisms with T1D in Egyptian children.

Background: Type 1 diabetes mellitus (T1D) is a T cell-mediated autoimmune disease characterized by the destruction of pancreatic β cells. PTPN22 and IL2RA polymorphisms have been found to be associated with several autoimmune diseases including T1D.

Aims: We aimed to elucidate the role of PTPN22 and IL2RA polymorphisms in predisposition of T1D in Egyptian children.

ADAM33 and ADAM12 genetic polymorphisms and their expression in Egyptian children with asthma.

Background: The ADAM family is involved in some pathologic processes, such as inflammation and asthma.

Objectives: To assess the association between ADAM33 and ADAM12 single-nucleotide polymorphisms (SNPs) with asthma risk and severity and to investigate the effect of ADAM33 and ADAM12 polymorphisms on expression of these proteases in sputum.

Methods: Two SNPs of the ADAM33 gene, F+1 (rs511898) G/A and ST+4 (rs44707) A/C, and 2 SNPs of the ADAM12 gene, rs3740199 and rs1871054, were analyzed in 400 asthma cases and 200 controls aged 3 to 14 years using the polymerase chain reaction-restriction fragment length polymorphism method.

First report of acute lymphoblastic leukemia in an Egyptian child with β-thalassemia major.

β-Thalassemia (β-thal) is the most common hereditary anemia in humans. With improvement of treatment protocols, patients are living longer and new complications have emerged. Few articles have reported the occurrence of malignancies among patients with β-thal in different parts of the world.

Association of 5-HT2A receptor gene polymorphisms with gastrointestinal disorders in Egyptian children with autistic disorder.

Gastrointestinal disturbances (GID) are frequently reported in children with autism spectrum disorders (ASD). Recently, mounting evidence suggests that there may be a genetic link for autism with gastrointestinal disturbances. We aimed to investigate whether there were any association between the -1438A/G, 102T/C and His452Tyr polymorphisms of the serotonin 2A receptor gene (5-HT2A) in Egyptian children with ASD and GID.

Catechol-O-methyltransferase Val158Met polymorphism and hyperactivity symptoms in Egyptian children with autism spectrum disorder.

Catechol-O-methyltransferase (COMT) plays an important role in the catabolism of brain dopamine and norepinephrine, which have been implicated in the pathogenesis of Autism spectrum disorder (ASD) as well as in other neuropsychatric disorders. We aimed to investigate the association of COMT Val158Met gene polymorphism with ASD and to examine the influence of such genotypes on hyperactivity symptoms in ASD patients. Eighty ASD patients (mean age 9 ± 1.