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 < 0.001) associated with autism among the putative functional exonic variants (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.

A sizable portion of the world’s population suffers from migraines with aura. The purpose of this research is to describe the findings of a case-control study that was carried out to gain a better understanding of how migraine with aura manifests. The research looked at the P100 delay of the visual-evoked potential in both eyes of 92 healthy people and 44 patients who suffered from migraines with visual aura. All of the participants in the study were recruited from King Fahad University Hospital in Saudi Arabia. Both sets of people had the same ancestry and originated from the same location. Patients who suffered from migraines with aura exhibited a significantly shorter P100 delay in both eyes compared to healthy controls (p = 0.001), which is evidence that their early visual processing was distinct. In order to arrive at these findings, we compared people who suffer from migraines with aura to people who do not suffer from migraines and used them as subjects. These findings contribute to the ongoing attempts to bring the disease under control and provide vitally significant new information regarding the functioning of headaches with auras. The primary focus of study in the future should be on determining the nature of the connection between issues with early visual processing and headaches with aura.

Background: Stroke remains a leading cause of death and long-term disability worldwide. Sleep disturbances are increasingly recognized as potential factors influencing recovery after stroke. Therefore, in this study we examined the associations of sleep disturbances and metabolic markers with post-stroke outcomes. Methods: We conducted a retrospective study of adult patients with stroke-related presentations. The primary analysis included 270 patients with follow-up mRS data. Extracted variables included demographics, vascular risk factors, stroke subtype, imaging findings, sleep features, and selected laboratory markers. Functional outcome was classified as favorable, mRS 0–2, or unfavorable, mRS 3–6. Recurrent stroke burden was analyzed as 0–1 versus ≥2 documented events. Associations and predictive performance were assessed using group comparisons, LASSO logistic regression, and random forest models with repeated 10-fold cross-validation. Results: Among 270 stroke patients, 214 (79.3%) had favorable outcomes and 56 (20.7%) had unfavorable outcomes. Sleep disturbances were common, especially nocturnal awakenings (59.6%), increased sleep apnea risk (44.4%), circadian rhythm disturbances (28.9%), and insomnia (23.7%). Unfavorable outcomes were linked to older age, cardio-aortic embolism, large vessel/cortical stroke, abnormal vascular imaging, insomnia, and lower HDL. In LASSO analysis, age, steno-occlusive/atherosclerotic imaging, cardio-aortic embolism, and insomnia predicted unfavorable outcome, while HDL was protective. For recurrent stroke, small artery occlusion and hypertension with diabetes were retained. In predictive modeling, the best random forest model showed good discrimination AUC values of 0.791 ± 0.0126. Conclusions: Poorer stroke outcomes were associated with vascular factors, insomnia, and low HDL; recurrent events were mainly associated with small artery occlusion.