Background Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed for accurate diagnosis. The objectives of this work were: first, to continue the study of mucopolysacchardoses disease in Egypt after the start of using the enzyme replacement therapy (ERT). Second, to define the commonest types among our population after 18 years experience with the disease. Third, to compare the different MPS types’ distribution, diagnosed after the start of the ERT, to identify the impact of using ERT on the number and type of diagnosed patients. Method Urinary GAGs were measured for all referred cases followed by two-dimensional electrophoretic separation for cases with high levels of GAGs; the specific enzyme activity was assayed for each type depending on the abnormal electrophoretic pattern obtained. Clinically suspected cases of Morquio syndrome were directly subjected to measuring the specific enzyme. Results Out of 1448 suspected cases, 622 (42.9%) MPS patients were diagnosed revealing the following distribution: MPS I (172, 27.7%), MPS II (57, 9.1%), MPS III [(177, 28.5%: 134 type B and 43 types A, C or D)], MPS IVA (124, 19.9%), MPS VI (90, 14.5%) and MPS VII (2, 0.3%). MPS III was the most commonly diagnosed type followed by MPS I and MPS IVA. MPS IVA represented the most common type receiving treatment, followed by MPS I, MPS II and MPS VI. Conclusion The presence of treatment encouraged the affected families and physicians to seek diagnosis. MPS III was the commonest type among our studied group after 7 years of diagnosis, while MPS IVA was the commonest type receiving treatment.
The aim of the current study is the development of a vitamin D3 (VD3)-loaded nanoemulsion (NE) formulation to improve VD3 oral bioavailability for management of vitamin D inadequacy in autistic children. Eight NE formulations were prepared by high-speed homogenization followed by ultrasonication. Four vegetable oils were employed along with two concentrations of Span 20 as the emulsifier. Glycerol, fructose, and mango flavor were included as viscosity modifier, sweetening, and flavoring agents, respectively. The prepared VD3-loaded NE formulations exhibited high drug content (> 98%), droplet size (DS) ranging from 61.15 to 129.8 nm with narrow size distribution, zeta potential values between − 9.83 and − 19.22 mV, and acceptable pH values (4.59–5.89). Storage stability showed that NE formulations underwent coalescence and phase separation during 6 months at room temperature, whereas at refrigerated conditions, formulations showed slight creaming. The optimum formulation (VD3-NE6) revealed a non-significant DS growth at refrigerated conditions and spherical morphology under transmission electron microscopy. VD3-NE6 did not produce any toxic effects to rats treated orally for 3 months, where normal blood picture and kidney and liver functions were observed compared to control rats. Also, serum calcium, oxidative stress, and apoptosis biomarkers remained within normal levels, indicating the safety of the optimum formulation. Furthermore, evaluation of VD3-NE6 oral bioavailability depicted a significant increase in AUC0–72 and Cmax with decreased Tmax compared to plain VD3. The optimum formulation demonstrated improved stability, safety, and oral bioavailability indicating the potential for successful management of vitamin D deficiency in autistic children.
Background Phenylketonuria (PKU), inborn error of metabolism, results from phenylalanine hydroxylase deficiency. PKU leads to neurological manifestations, intellectual disability, and mental disorders. Treatment depends on phenylalanine-restricted diet. Diagnosis and follow-up of PKU depends on blood phenylalanine level. The development of bacterial inhibition assay was the first routine screening test for PKU. ELISA and amino acids analyzers methods were then developed. Tandem mass spectrometry was introduced for newborn screening from dried blood spot in the late 1990s. Since then, several methods were developed, starting from using HPLC column followed by direct injection in mass spectrometer by analyte derivatization and use of external and internal standards. Kits are available for neonatal screening without derivatization using internal standards for quantitation. Due to high PKU incidence in Egypt, it is important to continuously ameliorate the methods for neonatal diagnosis and follow-up. Results External standards as dried blood spots were prepared according to the previously described procedures. These standards were evaluated for phenylalanine concentration using ELISA kit. Analysis of samples was done with a single-step elution from dried blood spot followed by 1-min mass spectrometry analysis. Validation was done according to US FDA and other related guidelines. Fifty samples were analyzed by ELISA and another 126 samples were analyzed by mass spectrometer kit. All these samples were analyzed by the developed method and no statistically significant difference was observed. Conclusion New simple method is developed for phenylalanine quantitation in dried blood spot using tandem mass spectrometry. This method is cost and time effective.
BACKGROUND: Childhood obesity is considered a risk factor for chronic diseases later in life. Phthalates (phthalate acid esters), predominant constituents of plasticizers, are well-thought-out global environmental contaminants. AIM: This study aims to investigate the relationship between obesity and urinary phthalates in Egyptian children. MATERIALS AND METHODS: This cross-sectional study included 210 children; 71 children were obese. Age ranged between 8.8 and 16 years with a mean of 12.93 ± 1.29 years. Sociodemographic data were collected. Clinical examination included measuring body weight, height, waist and hip circumferences (WC and HC), and calculation of body mass index (BMI). The lipid profile was analyzed. Urine samples were tested for phthalates levels using high-performance liquid chromatography. RESULTS: Urinary phthalates metabolites mono benzyl (MBzP), monobutyl (MBP), monoethyl (MEP), and mono (2ethylhexyl) phthalate (MEHP) were detected in all urinary samples with varying levels. The median concentrations of MBzP, MEHP, MBP, and MEP were 1.4, 54.5, 29.9, and 490 (ng/ml), respectively. In obese children, urinary MBP, MEP, and MEHP demonstrated significantly higher mean levels than in non-obese children. Physical indicators of obesity as body weight, BMI, WC, and HC were significantly positively correlated with urinary levels of MEHP and MEP, while urinary MBzP demonstrated a significant positive association with serum triglycerides levels. CONCLUSION: The present study suggests an association between phthalates exposure and childhood and adolescent adiposity.
Background: Evidence supporting environmental risk factors of autism spectrum disorder (ASD) is rising. Phthalates are assumed to contribute to this risk due to their extensive use in daily life as plasticizers and additives in numerous customer products. Phthalates are also accused as a neurotoxic agent affecting brain development. Aim: The main objective of this study is to compare the concentrations of urinary phthalate metabolites as biomarkers of phthalate exposure in children with autism to that of a healthy control group and to compare their exposure to suspected environmental sources of phthalate. Methods: It was a case-control study; conducted over a period of one year. Thirty-eight children with ASD and 99 apparently healthy children comprised the control group, were enrolled in the study. Urinary concentrations of four phthalate metabolites were measured, using a combination of solid phase extraction, high pressure liquid chromatography, and tandem mass spectrometry. Results: Children with ASD comprised 38 children (32 boys and 6 girls), their mean age was 8.95 + 4.17 years. There were significant higher levels of urinary Mono (2ethylhexyl) phthalate (MEHP), mono benzyl, and mono butyl phthalates in cases vs. controls with p value equals (0.006, 0.017 and <0.001) respectively. Regression analysis revealed that male gender and the level of mono butyl are the main predictors of ASD (p<0.001). Conclusion: This study suggested a link between phthalates and ASD with higher urinary levels of phthalate metabolites in children with ASD. These high levels are either due to increased exposure or defective metabolism in children with ASD. The study declined any relationship of the studied sources of phthalate exposure to ASD except the exposure to wall painting with plastic.
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