Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients.

Multiple sclerosis (MS) is a multifactorial polygenic disease; results from autoimmune and neurodegenerative processes which lead to multifocal lesions of the central nervous system. Axonal degeneration was found to be prominent in the inflammation period of MS and contribute to the progression of disability. Soluble N-ethylmaleimide sensitive factor attachment receptor (SNARE) complex plays a vital role in the release of neurotransmitter by synaptic vesicle fusion. Stx-1A protein (Stx-1A), a major component of the SNARE complex, is widely expressed in brain tissue. This study intended to evaluate the prevalence of the Stx-1A gene polymorphism (rs1569061) in the Egyptian population with MS and to investigate its association with various clinical factors. This study included 65 adult Egyptian MS patients and 35 age- and sex-matched normal control subjects. Diagnosis of MS was made by an experienced neurologist according to revised McDonald criteria. All Patients underwent full history taking, included Age of onset of MS, disease duration, disease course and degree of disability according to the Expanded Disability Status Scale (EDSS) and family history of neurological diseases. Stx-1A gene polymorphism (rs1569061) genotyping was performed by TaqMan assay based quantitative real time (qPCR) and verified by sanger sequencer. Genotype and allele frequencies of (rs1569061) did not differ significantly between case and control groups. No difference was detected when comparing the genotype frequency and the allele frequency to different disease parameters. Discrepancy of the minor allele frequency (MAF) of Stx-1A gene (rs1569061) between different populations was noted. In conclusion, our study in Stx-1A gene polymorphism (rs1569061) and MS showed that no difference between the patient and control as regards gene frequency and allele frequency. Predicting no association between the studied polymorphism and MS in the Egyptian population. However, discrepancy between different population was noted as regards the MAF for Stx-1A gene (rs1569061).

Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder.

BACKGROUND: Autism spectrum disorders (ASD) are devastating neurodevelopmental disorders that showed global increased prevalence. They are characterized by impairment of social communication and stereotyped patterns. OBJECTIVE: This study aimed at measuring the levels of total sialic acid (SA) and anti-ganglioside M1 (anti- GM1) IgG antibodies as essential biomarkers in a cohort of children with ASD to identify their diagnostic yield as well as their correlation with the severity of autistic behaviors. METHODS: The demographic characteristics, anthropometric measurements, and clinical data were recorded. The levels of total plasma SA and serum anti-GM1 IgG antibodies levels were measured in 100 children with ASD and 100 healthy controls. The severity of ASD-related symptoms was assessed by using the Childhood Autism Rating Scale (CARS). RESULTS: Children with ASD had significantly higher levels of both SA and anti-GM1 antibodies than healthy controls (p < 0.001). SA showed a statistically significant moderate diagnostic performance while anti-GM1 antibody showed a statistically significant high diagnostic in differentiating severe from mild to moderate autism. Moreover, both SA and anti-GM1 antibodies levels were significantly correlated to the severity of ASD symptoms (p < 0.001). CONCLUSION: The significantly increased levels of SA and anti-GM1 antibodies in children with ASD and their correlation with autism-related symptoms suggest their possible etiopathogenic role in autism as one of the pediatric autoimmune neuropsychiatric disorders. However, further large-scale studies are still needed to explore their possible bidirectional relationship as biomarkers for autism.

Vascular endothelial growth factor profile and Vitamin D level in Systemic Sclerosis Egyptian patients.

Vascular endothelial growth factor (VEGF) was described as a potentially important driver of systemic sclerosis (SSc) pathogenesis. Additionally, recent literature elucidated that vitamin D serum level was found to be significantly lower in SSc patients in comparison to healthy individuals. The aim of the current study was to evaluate serum level of VEGF and its correlation with clinical features and vitamin D level in systemic sclerosis (SSc) Egyptian patients. This current case control study included 30 female SSc patients and 20 healthy controls. VEGF level was measured by ELISA. Serum level of 25-OH vitamin D was measured by electrochemiluminescence. Nailfold video capillaroscopy and modified Rodnan skin score (mRSS) were assessed. Thirty SSc female patients were included in the study, 13 patients had diffuse cutaneous SSc. The mean age of the patients' group was 49.3±4.3years, and the mean serum VEGF level was 3445.9±1183 ng/dl. The mean serum level of vitamin D was 15.57±9.9ng/ml in SSc patients and 30.6±2.26 in the controls. There was a significant association between high level of VEGF and hypovitaminosis D. Serum level of VEGF positively correlated with nailfold capillaroscopy changes and mRSS. In conclusion, high level of VEGF is associated with hypovitaminosis D, suggesting a role of vitamin D in SSc pathogenesis. VEGF levels correlate positively with nailfold capillaroscopy changes and extent of skin involvement.