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.

Background: Stress hyperglycemia (SH), a transient elevation in blood glucose levels during acute stress such as stroke, has been increasingly recognized as a critical determinant of clinical outcomes. This review aims to evaluate the association between SH and clinical outcomes across different stroke subtypes and its role as a prognostic indicator. Methods: The current literature review was conducted through a comprehensive literature search of PubMed, Scopus, and Web of Science electronic databases. Initial title and abstract screening was conducted by two independent reviewers depending on the relevance to the topic of interest. Final study inclusion was based on the clinical relevance and agreement between reviewers. Results: Current evidence links SH with higher stroke severity (Higher national institutes of health stroke scale (NIHSS)), larger infarct volumes, increased risk of hemorrhagic transformation, and worse functional recovery (Lower modified rankin scale (mRS)), especially in ischemic stroke. In hemorrhagic stroke, SH is associated with hematoma expansion, perihematomal edema, and worsening neurological function. Although SH has been shown to be a reliable stroke outcome predictor, there is no scientific consensus regarding the most reliable measurement method. The use of absolute blood glucose values may not accurately reflect SH, particularly in diabetic patients, where chronic baseline hyperglycemia complicates interpretation. This underscores the necessity for individualized assessment rather than a uniform interpretation. Clinically, the early detection of SH may provide enhanced monitoring and supportive care; however, rigorous glucose management remains contentious due to the risk of hypoglycemia. Conclusions: This review synthesizes evidence from recent studies and supports SH as a prognostic marker of both short- and long-term adverse outcomes in stroke patients. Further research is warranted to evaluate the efficacy of targeted glycemic treatments on such outcomes.

Background: Although recent advancements in ischemic stroke management have reduced associated mortality rates, there remains a pressing need for more reliable, efficacious, and well-tolerated therapeutic approaches due to the narrow therapeutic window of current treatment approaches. The current meta-analysis sought to evaluate the safety and efficacy of stem cell-based therapeutic options for patients with ischemic stroke. Methods: PubMed, Web of Science, and Cochrane library databases were searched to retrieve randomized controlled trials (RCTs) evaluating the efficacy and safety of stem cell therapy (SCT) in ischemic stroke patients. Key outcomes included the National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS), Barthel Index (BI), Fugl–Meyer Assessment (FMA), infarct size, and safety profile. The random effects model with the continuous method was used to calculate the pooled effect size in Review Manager 5.4.1, and subgroup analyses were performed based on demographics, stroke duration, and SCT delivery protocols. Results: A total of 18 RCTs involving 1026 patients were analyzed, with 538 in the treatment group and 488 in the control group. The mean change in NIHSS score was comparable between groups [MD = −0.80; 95% CI: −2.25, 0.65, p < 0.0001]. However, SCT showed better outcomes in mRS [MD = −0.56; 95% CI: −0.76, −0.35, p = 0.30] and BI scores [MD = 12.00; 95% CI: 4.00, 20.00, p = 0.007]. Additionally, the mean change in FMA score was significantly greater with SCT [MD = 18.16; 95% CI: 6.58, 29.75, p = 0.03]. The mean change in infarct volume also favored stem cell therapy [MD = 8.89; 95% CI: −5.34, 23.12, p = 0.08]. The safety profile was favorable, with adverse event rates comparable to or lower than controls. Conclusions: SCT offers a safe and effective approach to improving functional outcomes in stroke patients, particularly with early intervention. These findings highlight the potential of SCT in ischemic stroke rehabilitation while underscoring the need for standardized protocols and long-term safety evaluation.

Migraine, as the seventh most disabling neurological disease with 26.9% prevalence in Saudi females, lacks studies on identifying associated genes and pathways with migraines in the Arab population. This case control study aims to identify the migraine-associated novel genes and risk variants. More than 1900 Arab ancestry young female college students were screened: 103 fulfilled the ICHD-3 criteria for migraine and 20 cases confirmed in the neurology clinic were included for the study with age-matched healthy controls. DNA from blood samples were subjected to paired-end whole-exome sequencing. After quality control, 3365343 missense, frameshift, missense splice region variants and insertion–deletion (indels) polymorphisms were tested for association with migraine. Significant variants were validated using Sanger sequencing. A total of 17 (p-value 9.091 × 10⁻⁰⁵) functional variants in 12 genes (RETNLB, SCAI, ADH4, ESPL1, CPT2, FLG, PPP4R1, SERPINB5, ZNF66, ETAA1, EXO1 and CPA6) were associated with higher migraine risk, including a stop-gained frameshift (-13-14*SX) variant in the gene RETNLB (rs5851607; p-value 3.446 × 10⁻⁰⁶). Gene analysis revealed that half of the significant novel migraine risk genes were expressed in the temporal lobe (p-value 0.0058) of the cerebral cortex. This is the first study exploring the migraine risk of 17 functional variants in 12 genes among Saudi female migraineurs of Arab ancestry using whole-exome sequencing. Half of the significant genes were expressed in the temporal lobe, which expands migraine pathophysiology and early identification using biomarkers for research possibilities on personalised genetics.

Background: Sleep disturbances are prevalent among stroke survivors, significantly impacting their recovery and quality of life. This study aimed to evaluate the prevalence of sleep disorders, sleep quality, risk of obstructive sleep apnea (OSA), and daytime sleepiness among stroke survivors and to identify potential associations with clinical and demographic factors. Materials and Methods: A retrospective observational study analyzed adult stroke survivors (aged ≥ 18 years) attending neurology clinics at our institution from November 2022 to November 2024. The primary outcome measures included overall sleep quality, sleep apnea and daytime sleepiness assessment. Data were collected using validated Arabic versions of the Pittsburgh Sleep Quality Index (PSQI), STOP-Bang Questionnaire, and Epworth Sleepiness Scale (ESS). Statistical analyses, including Chi-square tests and t-tests, were performed using SPSS version 30.1. Results: A total of 100 stroke survivors, mostly aged 40–60 years, were recruited in our study. The prevalence of sleep disorders was 60.0%, with poor sleep quality reflected by a mean global PSQI score of 9.13 ± 14.40. Additionally, 19.0% were at high risk of OSA, and 24.0% experienced abnormal daytime sleepiness. While no statistically significant associations were found between sleep disorders and clinical or demographic factors, trends indicated higher sleep disorder prevalence in those with hemorrhagic stroke and high-risk OSA profiles. Conclusions: Our study highlights a high prevalence of sleep disorders among stroke survivors, emphasizing the need for regular sleep assessments. Future studies should explore objective assessments and larger sample sizes to validate these findings and to assess their potential implication in stroke recovery and quality of life.