Nutritional status assessment, including amino acids, carnitine, and acylcarnitine profile, is an important component of diabetes care management, influencing growth and metabolic regulation. A designed case-control research included 100 Egyptian participants (50 T1DM and 50 healthy controls) aged 6 to 18 years old. The participants' nutritional status was assessed using the Body Mass Index (BMI) Z-score.
View Article and Find Full Text PDFThe misuse of antibiotics has led to antibiotic-resistant bacterial strains, making it even harder to combat and eliminate their infections. Staphylococcus aureus causes various adverse infections and diseases, including skin abscesses, bloodstream infections, pneumonia, and joint infections. In this study, we aimed to test the cytotoxic and antibacterial effects of bee venom-loaded chitosan nanoparticles (BV-loaded CS-NPs) in comparison to gamma-irradiated BV and native BV from Apis mellifera.
View Article and Find Full Text PDFPurpose: Obesity is more prevalent among people with Down Syndrome (DS) compared to general population. In this pilot study, we investigated the effect of cystathionine beta-synthase (CBS) overdosage on the regulation of transsulfuration pathway and the obesity phenotype in fifty adolescents (25 obese/overweight and 25 lean) with trisomy 21.
Methods: The transcriptional levels of in leukocytes and its translational levels in plasma were quantified using real time polymerase chain reaction and enzyme-linked immunosorbent assay respectively.
The acute toxicity of household detergent (Ariel) on blood parameters and histology of was investigated using static bioassay for 96 h. Normal feed was given to control group without detergents treatment. while WBC count showed a highly significant increase.
View Article and Find Full Text PDFAim: To introduce a quantitative determination of heparan sulfate and dermatan sulfate by mass spectrometry and to compare it with two-dimensional electrophoresis of the glycosaminoglycans in the amniotic fluid for the prenatal diagnosis of mucopolysaccharidoses type II (MPS II).
Methods: Thirty pregnancies each with single fetus were subjected to amniocentesis at 16 weeks: 10 with a previously affected MPS II infant and 20 as controls. Prenatal diagnosis was done by both mass spectrometry two two-dimensional electrophoresis.
Aim: The aim of this study was to evaluate the association between vitamin B12 and its biomarkers and the risk of neural tube defects.
Methods: A total of 120 pregnant Egyptian women were included in the study. They were classified into two groups.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that affects social, communication, and behavioral development. Recent evidence supported but also questioned the hypothetical role of compounds containing mercury (Hg) as contributors to the development of ASD. Specific alterations in the urinary excretion of porphyrin-containing ring catabolites have been associated with exposure to Hg in ASD patients.
View Article and Find Full Text PDFBackground And Study Aims: Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by deficiency of glycogen debrancher enzyme and is characterised by clinical variability.
Patients And Methods: We herein describe the clinical and laboratory findings in 31 Egyptian patients with GSD III presenting to the Paediatric Hepatology Unit, Cairo University, Egypt.
Results: Eighteen patients (58%) were males.
J Inherit Metab Dis
November 2012
Background: Recessive LPIN1 mutations were identified as a cause of severe rhabdomyolysis in pediatric patients. The human lipin family includes two other closely related members, lipin-2 and 3, which share strong homology and similar activity. The study aimed to determine the involvement of the LPIN family genes in a cohort of pediatric and adult patients (n = 171) presenting with muscular symptoms, ranging from severe (CK >10 000 UI/L) or moderate (CK <10 000 UI/L) rhabdomyolysis (n = 141) to exercise-induced myalgia (n = 30), and to report the clinical findings in patients harboring mutations.
View Article and Find Full Text PDFObjective: Estimation of free polyunsaturated fatty acids (PUFAs) in blood and evaluation of behavior of autistic children before and after taking fish oil (Efalex) were performed.
Design And Methods: 30 autistic children (18 males and 12 females) aged 3-11 years and 30 healthy children as control group were included in this study. Tandem mass spectrometry and CARS were used to estimate the free PUFAs from dried blood spot and to evaluate the autistic behavior respectively.