Vitamin D receptor gene polymorphism in Egyptian multiple sclerosis patients.

One of the most common neurological illnesses in the world is multiple sclerosis (MS), a chronic autoimmune demyelinating disease of the central nervous system (CNS). MS has both a genetic and an environmental origin. In terms of environmental factors, vitamin D deficiency is one of the most important risk factors and closely connected with gene polymorphisms involved in vitamin D metabolism, transport, or activity. Since vitamin D activity requires a receptor-mediated response, any changes to the vitamin D receptor (VDR) may have an effect on the pathophysiology of the disease. In this study, we aimed to identify the relationship between VDR gene polymorphisms, FokI A>G (rs2228570), ApaI A>C (rs7975232) and BsmI C>T (rs1544410) and MS. FokI, ApaI and BsmI genotypes were determined in 50 patients with relapsing remitting MS (RRMS) and in 50 control subjects. DNA was isolated from blood samples, and then FokI, ApaI and BsmI gene polymorphisms were identified using allelic discrimination real time polymerase chain reaction (PCR) assay. The distribution of FokI, ApaI and BsmI polymorphisms did not show any significant differences between MS patients and controls. Thus, we concluded that there is no association between the studied VDR gene polymorphisms and MS.

A clinical comparative analysis between expanded NIHSS and original NIHSS in posterior circulation ischemic stroke.

BACKGROUND: The NIHSS is used routinely but has drawbacks. One of them is its inefficiency in detecting all signs of posterior circulation strokes. Since its declaration as a possible substitute for NIHSS in posterior circulation strokes in 2016; the expanded NIHSS (e-NIHSS) has not been paid much attention. The current study assesses clinically the value of e-NIHSS over NIHSS in posterior circulation strokes as regards the percentage of cases with different/higher scores, the significance of such scoring on management decisions, the weight of baseline e-NIHSS as a prognostic tool on 90 days functional outcome and its cut off value. METHODS: The current longitudinal observational study was conducted on 79 cases after formal written consent who presented with posterior circulation strokes and confirmed by brain imaging. RESULTS: In Comparison to NIHSS; the e-NIHSS score was higher in 36 cases at baseline and in 30 cases on discharge. The e-NIHSS median was two points higher at baseline and 24 h and was one point higher on discharge P < 0.001. A baseline moderate/moderate-severe was more common with e-NIHSS (n 50, 63.3%). In terms of 90 days outcome; a less favorable outcome (>2) was evident in cases with different scoring (e-NIHSS > NIHSS) indicating more sensitivity of e-NIHSS in prognosing 90 days outcome. ROC curve showed 82% sensitivity and 81% specificity with a significant area under the curve (=0.858) on scoring ≥ 8 in e-NIHSS. CONCLUSION: e-NIHSS is diagnostically and prognostically relevant tool in posterior circulation strokes and ought to be considered in future guidelines.

Clinical characteristics of patients with multiple sclerosis enrolled in a new registry in Egypt.

BACKGROUND: Epidemiological studies of multiple sclerosis (MS) are lacking in Egypt. OBJECTIVE: To study the characteristics of Egyptian patients with multiple sclerosis in a new registry in a major tertiary referral centre in Cairo, Egypt. SUBJECT AND METHODS: Patients were from the project MS database of the Multiple Sclerosis Unit at Ain Shams University Hospitals (N=950). We conducted a detailed medical history and examination including the Expanded Disability Status Scale (EDSS). RESULTS: Females represented 72% of subjects (female: male ratio 2.57:1). The mean age of disease onset was 26.1±7.6 years. Relapsing-remitting MS (RRMS) was the most common presentation (74.6%). Visual or sensory symptoms were the most common at presentation with RRMS, while motor symptoms were the most common presentation in other types of MS. Time to diagnosis was delayed up to 2 years in 27.8% of patients. The mean EDSS score was 3.6±2.1; 55% had EDSS≤3. About half (49%) received a disease-modifying drug. Progressive MS and motor presentation were associated with higher disability. CONCLUSIONS: This is the first documented MS registry from Egypt. The clinical characteristics of MS in Egypt was similar to other Arab countries and western countries. MS is more common among females in Egypt, with RRMS being the most common presentation. Visual symptoms and motor symptoms were the most common presentations in RRMS and progressive MS, respectively. Our findings also highlight the value of establishing registries in Egypt in order to be able to study, prospectively, the clinical course of the disease, the response to various DMD's and the epidemiology of MS in Egypt.