Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Ischemic stroke represents a significant societal burden across the globe. Rare high penetrant monogenic variants and less pathogenic common single nucleotide polymorphisms (SNPs) have been described as being associated with risk of diseases. Genetic studies in Saudi Arabian patients offer a greater opportunity to detect rare high penetrant mutations enriched in these consanguineous populations. We performed whole exome sequencing on 387 ischemic stroke subjects from Saudi Arabian hospital networks with up to 20,230 controls from the Saudi Human Genome Project and performed gene burden analyses of variants in 177 a priori loci derived from knowledge-driven curation of monogenic and genome-wide association studies of stroke. Using gene-burden analyses, we observed significant associations in numerous loci under autosomal dominant and/or recessive modelling. Stroke subjects with modified Rankin Scale (mRSs) above 3 were found to carry greater cumulative polygenic risk score (PRS) from rare variants in stroke genes (standardized PRS mean > 0) compared to the population average (standardized PRS mean = 0). However, patients with mRS of 3 or lower had lower cumulative genetic risk from rare variants in stroke genes (OR (95%CI) = 1.79 (1.29-2.49), p = 0.0005), with the means of standardized PRS at or lower than 0. In conclusion, gene burden testing in Saudi stroke populations reveals a number of statistically significant signals under different disease inheritance models. However, interestingly, stroke subjects with mRS of 3 or lower had lower cumulative genetic risk from rare variants in stroke genes and therefore, determining the potential mRS cutoffs to use for clinical significance may allow risk stratification of this population.

Quality of Life and Disability Among Migraine Patients: A Single-Center Study in AlAhsa, Saudi Arabia.

Background Migraine is a major public health issue that leads to frequent visits to medical care. It is generally considered a disabling disease among individuals below the age of 50 years old predominantly seen in females. Migraine headache has a strong influence on disability, functional impairments, and psychological effects. The majority of the physicians fail to address the degree and extent of impediment caused by a migraine, which contributes to low quality of life and disability. Thus, this study aims to assess the health-related quality of life (QOL) and disability among migraine sufferers in AlAhsa, Saudi Arabia. Material and methods This descriptive cross-sectional study was carried out in the neurology clinics at King Fahad Hospital-Hofuf, AlAhsa, Saudi Arabia, from May to August 2021. The data were collected through a self-administered questionnaire. The migraine-specific quality of life questionnaire (MSQ), version 2.1, was used. MSQ is measured in three domains, including role function restrictive (RR), preventive (RP), and emotional function (EF). Disability related to migraine was assessed by the Migraine Disability Assessment Test (MIDAS). MIDAS classifies disability from no disability to severe disability. Two-tailed with an alpha level of 0.05 considering the significance of a p-value less than or equal to 0.05. The mean scores of QOL domains were compared by one-way analysis of variance (ANOVA) and independent t-tests. Results A total of 101 out of 359 participants were identified to have a migraine. Eighty-two participants met the inclusion criteria, 75.6% were females. The age of the participants ranged from 18 to more than 45 years with a mean age of 36.4 ± 11.9 years old. The mean score of QOL in the restrictive, preventive, and emotional domains were 46.3% ± 21.5%, 52.1% ± 24.3%, and 61.5% ± 30.8%, respectively. More than half of the participants (57.3%) suffered from a severe disability caused by migraines as compared to 20.7% with a moderate disability. Low QOL scores were associated with females and a significant relationship was found between migraine-associated disability and patients' emotional function in QOL. Conclusion Clinicians should routinely evaluate disability related to migraine and QOL as a complementary approach to migraine patients to ensure that patients are receiving proper treatment and whether additional strategies are needed or not.

Is non-traditional therapy for multiple sclerosis overwhelming in Saudi Arabia.

OBJECTIVE: To describe the prevalence, knowledge and attitudes about complementary and alternative medicine (CAM) use and the proportion that seek advice from their physician about CAM use. METHODS: This cross-sectional observational study was performed in multiple sclerosis (MS) clinic of King Fahd Hospital of Universityin Alkhobar, Kingdom of Saudi Arabia from January-June 2017. A total of 133 patients have completed the survey. RESULTS: The mean age of patients was 32.3+/-7.6 years and 84 (63.2%) were female. Approximately 83.5% of the patients reported the use of CAM. Among all the reported forms of CAM, vitamins were the most prevalent form, followed by cupping, special prayers and meditation. The majority of patients (62%) obtained knowledge of CAM through social media. A significant number of patients (75.6%) did not disclose the use of CAM to their physician. There was a trend for using CAM more in highly educated, older age, and female patients. The most commonly reported rationale to use CAM was overall improvement in health status. CONCLUSION: The use of CAM among Saudi patients with MS is highly prevalent, without disclosure of its use to physicians. These factors should be taken into account in the doctor-patient consultation to avoid adverse events.