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).

The effect of different direct antivirals on hepatic steatosis in nondiabetic and naïve hepatitis C-infected Egyptian patients.

Background: Hepatitis C is associated with metabolic effects and fatty liver disease. The effect of different direct antivirals on the liver steatosis, and the metabolic profile, still needs to be established. The aim of this study is to determine the effect of achieving the sustained virological response after 12 weeks (SVR-12 weeks) with different combinations of direct antiviral drugs, on the hepatic steatosis, and fibrosis presented by laboratory and transient elastography parameters. Our study population is nondiabetic, chronically infected HCV Egyptian patients and naïve to any form of HCV treatment. Methods: This cohort study was carried on 100 nondiabetic HCV treatment-naïve patients attending the Hepatology Clinic, in the Gastroenterology and Hepatology Department, Ain Shams University, and Kobry El Koba Military Hospital. The patients were divided into four groups according to their treatment regimens as follows: group A: 25 patients who received sofosbuvir (400 mg) and daclatasvir (60 mg) daily for 12 weeks; group B: 25 patients who received sofosbuvir (400 mg) and ledipasvir (90 mg) daily for 12 weeks; group C: 25 patients who received ombitasvir (12.5 mg), paritaprevir (75 mg), and ritonavir (50 mg) daily for 12 weeks; and group D: 25 patients who received sofosbuvir (400 mg) and simeprevir (150 mg) daily for 12 weeks. All patients were subjected to the following investigations: HCV quantitative PCR before and after 12 weeks of treatment, clinical and laboratory metabolic evaluation including alfa-fetoprotein level, thyroid profile assessment, ferritin level, pelvi-abdominal ultrasound, and FibroScan examination. Results: All patients achieved SVR after 12 weeks. FibroScan median decreased (P < 0.001) from 19.29 ± 6.97 kPa at baseline to 14.15 ± 6.48 kPa at SVR12. NAFLD score median increased from 1.88 (1.49-2.22) at baseline to 2.01 (1.61-2.33) after 12 weeks of treatment. The highest level of NAFLD score was in group C, and the lowest was in group B. The BMI mean decreased from 28.31 ± 1.53 at baseline to 28.07 ± 1.52 at SVR12. HbA1C level mean decreased from 5.73 ± 0.23 at baseline to 5.40 ± 0.24 at SVR12. In addition, liver enzymes, cholesterol, triglycerides, APRI score (AST-platelet ratio index), and HBA1C decreased after 12-week treatment with a statistically significant difference, while the mean LDL increased after 12 weeks of treatment. Conclusions: DAAs affect the metabolic profile of the treated patients. There is a noticed improvement in the FibroScan, NAFLD score, and lipid profile after achieving the SVR-12 weeks. However, LDL is increased after viral cure, mostly due to viral-host molecular interaction.

Evaluation of Serum Biomarkers and Electroencephalogram to Determine Survival Outcomes in Pediatric Post-Cardiac-Arrest Patients.

Cardiac arrest causes primary and secondary brain injuries. We evaluated the association between neuron-specific enolase (NSE), serum S-100B (S100B), electroencephalogram (EEG) patterns, and post-cardiac arrest outcomes in pediatric patients. A prospective observational study was conducted in the pediatric intensive care unit and included 41 post-cardiac arrest patients who underwent EEG and serum sampling for NSE and S100B. The participants were aged 1 month to 18 years who experienced cardiac arrest and underwent CPR after a sustained return of spontaneous circulation for ≥48 h. Approximately 19.5% (n = 8) of patients survived until ICU discharge. Convulsions and sepsis were significantly associated with higher mortality (relative risk: 1.33 [95% CI = 1.09-1.6] and 1.99 [95% CI = 0.8-4.7], respectively). Serum NSE and S100B levels were not statistically associated with the outcome (p = 0.278 and 0.693, respectively). NSE levels were positively correlated with the duration of CPR. EEG patterns were significantly associated with the outcome (p = 0.01). Non-epileptogenic EEG activity was associated with the highest survival rate. Post-cardiac arrest syndrome is a serious condition with a high mortality rate. Management of sepsis and convulsions affects prognosis. We believe that NSE and S100B may have no benefit in survival evaluation. EEG can be considered for post-cardiac arrest patients.

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.

Is serum Osteopontin a predictor of carotid atherosclerosis severity among prevalent hemodialysis patients?

BACKGROUND AND AIM: Chronic hemodialysis (HD) patients are among the highest population risk for accelerated atherosclerosis. Osteopontin (OPN) is a multifunctional protein that is increased in chronic kidney disease that may play a role in vascular remodelling and intimal proliferation. AIM: To assess the relation between OPN levels and severity of carotid atherosclerosis among prevalent HD patients. METHODS: Eighty chronic HD patients underwent serum OPN levels assessment and were further classified into 3 subgroups according to the OPN tertiles' levels; sub-group 1 (lower tertile) subgroup 2 (middle tertile) and sub-group 3 (upper tertile), together with the carotid duplex and Transthoracic Doppler Echocardiography examination. RESULTS: The mean carotid intima-media thickness (CIMT) was 0.89±0.14mm. Out of the studied group, 50 (62.5%) patients had atheromatous plaques and 15 patients (18.8%). had significant stenosis. The 3rd group with the upper OPN tertile (78-270ng/dl) had the highest incidence of atherosclerosis. A significant correlation between the OPN levels and the CIMT (r=0.533, p=0.001). OPN values detect atherosclerosis with diagnostic sensitivity of 70%, specificity of 69%, positive predictive value (PPV) 73%, negative predictive value (NPV) 65% with area under the curve (AUC) 0.804 (95% CI: 0.711-0.897). Serum OPN detect carotid stenosis with sensitivity of 66%, specificity of 81%, PPV 45%, NPV 91% with AUC=0.769 and detect the presence of carotid atheroma with sensitivity 70%, specificity 66.67%, PPV 77.8%, NPV 57.1% and AUC=0.767 (p-value<0.001). Moreover, serum levels of OPN were significantly positively correlated with grade of diastolic dysfunction (r=0.312, p=0.005), E/A ratio (r=0.293, p=0.008) and inversely correlated with left ventricular ejection fraction (r=-0.304, p=0.006). CONCLUSIONS: Serum Osteopontin is of clinical value as a predictor biomarker of the severity of carotid atherosclerosis, presence of atheroma and carotid stenosis with high diagnostic sensitivity and specificity in chronic hemodialysis patients. Increased Osteopontin level is associated with left ventricular diastolic and systolic dysfunction in those patients.

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.