A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.

Background: Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant or homozygous/compound heterozygous variants and those with biallelic pathogenic variants present more severe symptoms.

The malnutrition screening tool STRONGKIDS performed better than other screening tools for children hospitalised in Egypt.

Aim: To compare the accuracy of three different screening tools, namely, the Paediatric Yorkhill Malnutrition Score (PYMS), Screening Tool for the Assessment of Malnutrition in Paediatrics (STAMP), and Screening Tool for Risk on Nutritional Status and Growth (STRONGKIDS), in assessing malnutrition risk in hospitalised children.

Methods: A cross-sectional study was conducted on 300 children aged 6 months to 15 years at Alexandria University Children's Hospital, Egypt. The sensitivity and specificity of each tool were calculated to detect acute and chronic malnutrition, and an agreement test was conducted between the nutritional screening tools.

Evaluation of non-thyroidal illness syndrome in shock patients admitted to pediatric intensive care unit in a developing country.

During critical illness, children my experience various changes in their thyroid hormone levels. Such changes are termed non-thyroidal illness syndrome (NTI). The extent of change correlates with the severity of the illness and its outcomes in critically ill patients.

Cyclin D2 gene variance and expression level in pediatric acute lymphoblastic leukemia.

Background: Cyclin D2 (CCND2) is a crucial player in cell cycle regulation. CCND2 polymorphisms contribute to cancer predisposition.

Objectives: To evaluate the association of CCND2 rs3217927 single nucleotide polymorphisms (SNP) and its expression levels with acute lymphoblastic leukemia (ALL) susceptibility in Egyptian children and its potential prognostic role.

Clinically Relevant Variants Causing KCNQ1-KCNE2 Gain-of-Function Affect the Ca Sensitivity of the Channel.

Dominant variants are well-known for underlying cardiac arrhythmia syndromes. The two heterozygous missense variants, R116L and P369L, cause an allelic disorder characterized by pituitary hormone deficiency and maternally inherited gingival fibromatosis. Increased K conductance upon co-expression of KCNQ1 mutant channels with the beta subunit KCNE2 is suggested to underlie the phenotype; however, the reason for KCNQ1-KCNE2 (Q1E2) channel gain-of-function is unknown.

Effect of early feeding practices and eating behaviors on body composition in primary school children.

Background: Understanding children's feeding practices and eating behaviors is important to determine etiology of childhood obesity. This study aimed to explore the relationship between early feeding practices, eating behavior and body composition among primary school children.

Methods: The data were collected from 403 primary school children.

Sensory Processing and Gastrointestinal Manifestations in Autism Spectrum Disorders: No Relation to Clostridium difficile.

The role of the gut microbiota in triggering autism is a rapidly emerging field of research. Gut microbiota have been incriminated because autistic children often have gastrointestinal symptoms. Pathogenic gut bacteria in children with autism spectrum disorders (ASD) have been reported.

Bovine Colostrum in the Treatment of Acute Diarrhea in Children: A Double-Blinded Randomized Controlled Trial.

Objectives: To evaluate the effect of bovine colostrum (BC) on the treatment of children with acute diarrhea attending the outpatient clinic.

Methods: This double-blind randomized controlled trial was conducted on 160 children with diarrhea; 80 cases were randomly treated with BC group and 80 cases randomly received placebo (placebo group). All cases were investigated for bacterial causes of diarrhea (Salmonella spp, Shigella spp, diarrheagenic E.

Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region.

Background Sex assignment is a major issue in disorders of sexual differentiation (DSD). Not all conditions of DSD have clear recommendations on assignment and timing of surgery. Reports about sex assignment practice and the influence of culture and religion in the Arab region are scarce.