Relationship Between Glycated Haemoglobin and Carotid Atherosclerotic Disease Among Patients with Acute Ischaemic Stroke

Objectives: This study aimed to determine the relationship between glycaemic control and carotid atherosclerotic disease among patients with acute ischaemic stroke (AIS). Methods: This retrospective cross-sectional study took place in the Neurology Department of King Fahad Hospital of University, Khobar, Saudi Arabia, from April to October 2017. Data were collected from the medical records of 244 patients with a diagnosis of AIS confirmed by computed tomography. Doppler ultrasounds of the carotid artery were performed to determine the presence of increased carotid intima media thickness (CIMT) and plaques. Results: Significantly higher mean glycated haemoglobin (HbA1c) levels were noted in cases with high CIMT values (P = 0.002), but not in cases with carotid plaques (P = 0.360). In addition, there was a significant association between diabetes mellitus (DM) and high CIMT (P = 0.045), but not with carotid plaques (P = 0.075). Finally, while dyslipidaemia and age were independently correlated with high CIMT values (P = 0.034 and 0.050 each). Conclusion: High HbA1c levels were associated with high CIMT values, but not with carotid plaques. Therefore, HbA1c levels may be useful as an indirect marker of the initial stages of carotid artery atherosclerosis. Keywords: Glycated Hemoglobin A1c; Diabetes Mellitus; Carotid Intima-Media Thickness; Atherosclerotic Plaque; Stroke

Nonadherence to Antiepileptic Medications: Still a Major Issue to be Addressed in the Management of Epilepsy

Context: Medication nonadherence is a significant barrier in achieving seizure freedom in patients with epilepsy. There is a deficiency of data about the reasons for nonadherence in Saudi population. Aims: The aim of this study is to prove the existence of nonadherence to antiepileptic drugs (AEDs) in patients with epilepsy and identify the responsible factors. Setting and Design: This is a prospective, cross-sectional study carried in the Department of Neurology at King Fahd Hospital of the University affiliated with Imam Abdulrahman Bin Faisal University. Subjects and Methods: Patients of all ages diagnosed to have epilepsy as mentioned in their medical record and taking antiepileptic medications were interviewed using a questionnaire. Statistical Analysis Used: Statistical analysis was performed using IBM Statistical Package for the Social Sciences version 21 (IBM Corp., Armonk, NY, USA). Statistical significance was defined as two-tailed with a P ≤ 0.05. Results: Among 152 participants, 52.6% were male and 47.4% were female. Mean age of the patients was 28 ± 14.3 (mean ± standard deviation) years. Of 152 patients, 48.7% were found to be nonadherent to their AED therapy. The most commonly identified factor was forgetfulness. Nonadherence was significantly associated with poor seizure control (P = 0.002). Conclusion: Nonadherence to the AED is common among patients with epilepsy and affects seizure control adversely

Etiologic and Clinical Features of Cerebral Venous Sinus Thrombosis in Saudi Arabia

Objective: Our study aims to evaluate the etiologic and clinical features of cerebral venous sinus thrombosis (CVST) in Saudi Arabia, and secondarily whether gender plays a role in CVST. Materials and Methods: Data were collected retrospectively from the stroke registry during the period from January 2008 to April 2018, and the patients with the diagnosis of CVST were identified, and data were analyzed for any gender-specific differences in clinical presentation and etiology of cerebral venous thrombosis. Results: There were 15 females while 11 males with a female:male ratio of 1.4:1. The mean age was 29.4± standard deviation 8.9 with the age range of 15–49. Headache was the most common and usually the first presenting symptoms present in 65% followed by hemiparesis and cranial nerve palsies. The first neurological examination was normal in 9/26 (34.6%) of the patients, while the common abnormality was cranial nerve palsies. Infections and trauma played an important part in risk factor analysis of our patient after the pregnancy- and hormone-related conditions. Some significant differences between the clinical presentation and risk factors among males and females were noted as age at presentation was higher in females while trauma and infections were common in male patients, although the involvement of the sinuses and response to treatment did not prove to be statistically significant. Conclusion: The results of this study were similar to the available literature with few differences. The relatively higher proportion of males in our study can be explained partly with more cases of traumatic CVST. Some important differences were noted between the risk factors and clinical presentation among genders. Large-scale prospective studies are needed to further clarify these differences

Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder

Autism is a complex disease with genetic predisposition factors. Real factors for treatment and early diagnosis are yet to be defined. This study integrated transcriptome and exome genotyping for identifying functional variants associated with autism spectrum disorder and their impact on gene expression to find significant variations. More than 1800 patients were screened, and 70 (47 male/23 female) with an average age of 7.56 ± 3.68 years fulfilled the DSM-5 criteria for autism. Analysis revealed 682 SNPs of 589 genes significantly (p n = 243,345) studied. Olfactory receptor genes on chromosome 6 were significant after Bonferroni correction (α = 0.05/243345 = 2.05 × 10−7) with a high degree of linkage disequilibrium on 6p22.1 (p = 6.71 × 10−9). The differentially expressed gene analysis of autistic patients compared to controls in whole RNA sequencing identified significantly upregulated (foldchange ≥0.8 and p-value ≤ 0.05; n = 125) and downregulated (foldchange ≤−0.8 and p-value ≤ 0.05; n = 117) genes. The integration of significantly up- and downregulated genes and genes of significant SNPs identified regulatory variants (rs6657480, rs3130780, and rs1940475) associated with the up- (ITGB3BP) and downregulation (DDR1 and MMP8) of genes in autism spectrum disorder in people of Arab ancestries. The significant variants could be a biomarker of interest for identifying early autism among Arabs and helping to characterize the genes involved in the susceptibility mechanisms for autistic subjects