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.

Electrophysiologic severity of carpal tunnel syndrome in diabetic patients of the Saudi population.

OBJECTIVE: To study the frequency of multiple vascular risk factors and electrophysiological severity of carpal tunnel syndrome (CTS) in Saudi diabetic patients. METHODS: This retrospective cross-sectional study was conducted in Neurology Department, King Fahd Hospital of University, Al-Khobar, Kingdom of Saudi Arabia from April 2017 to March 2018 and included 200 patients with CTS. Body parameters, such as blood pressure (BP), weight, height, and body mass index (BMI), along with laboratory and median nerve electrophysiological parameters, of diabetic and non-diabetic patients were compared, and a p-value<0.05 was considered significant. RESULTS: Frequency of hypertension (HTN) and obesity was significantly higher in diabetic patients (p<0.05). Mean median nerve sensory amplitude (MNSA) was lower in diabetic patients (p<0.05).Non-recordable nerves, as well as bilateral and extremely severe CTS (p<0.05), were more frequently seen in diabetic patients. Age, BMI, systolic BP, low serum high density lipoprotein (HDL), high triglycerides, high fasting blood sugar, and high glycated hemoglobin (Hba1c) levels, known to affect the electrophysiological severity of CTS, had a statistically significant association with diabetes. CONCLUSION: Diabetes mellitus (DM) and obesity are the most commonly identified risk factors of CTS. Dyslipidemia, HTN and obesity are more frequently seen in diabetic patients with CTS. These concurrent risk factors are confounding the electrophysiological severity of CTS in these patients. Further larger-scale studies with the control of confounding factors are recommended.

Epidemiological study of epilepsy from a tertiary care hospital in kingdom of Saudi Arabia.

OBJECTIVE: To identify the types of seizures and describe the clinical features, EEG and radiological findings among patients with epilepsy. METHODS: In this retrospective epidemiological study, we analyzed the medical records of the patients with the diagnosis of epilepsy during the study period (January 1st 2016- December 2016) RESULTS: The study included 184 patients, 91 (49.5%) were males and 93 (50.5%) females. Age ranged between 12 and 85 years (mean 35.4+/-19.5 SD years). Most of the patients 150 (82%) had Generalized tonic clonic seizures followed by focal onset in 27 (14%) of the patients. Main EEG abnormality was focal to bilateral was recorded in 53 (41%), idiopathic/ cryptogenic epilepsy was diagnosed in 61% of the patients. The most common abnormalities on brain imaging were temporal/hippocampal atrophy/stroke. The most common cause of symptomatic epilepsy was stroke found in 20(11%) followed by post infectious epilepsy and head trauma. CONCLUSION: Seizure types, EEG characteristics and etiologies of symptomatic epilepsy in our cohort of patients are in accordance with the current literature. Slight discrepancy observed in gender distribution and etiologies for symptomatic epilepsy compared with other studies from Saudi Arabia need to be studied further by prospective and population base studies.

The Relative Impact of Clinical and Investigational Factors to Predict the Outcome in Stroke Patients.

OBJECTIVE: As stroke is still considered a significant cause of mortality and morbidity, it is crucial to find the factors affecting the outcome in these patients. We aimed to interpret the various clinical and investigational parameters and establish their association with the outcome in stroke patients. MATERIALS AND METHODS: This is a retrospective, cross-sectional study, conducted in the Department of Neurology between June 2019 to November 2021. The study involved the review and analysis of medical records pertaining to 264 patients, admitted with the diagnosis of stroke. Various clinical, radiological, and electroencephalographic (EEG) patterns in stroke patients were analyzed and their association with outcome was established. The association between the studied variables was performed by the logistic regression (LR) and presented as odds ratio (OR) and 95% confidence interval (CI). RESULTS: The study sample consisted of 264 patients. Males comprised 165 (62.5%) with the mean participant age of 57.17 ± 18.7 3 years (range: 18-94). Patients younger than 50 years had a better likelihood of a good outcome in comparison to patients older than 50. The admission location was the most significant factor in predicting the outcome ( P = 0.00) in favor of inpatient department and outpatient department (OPD), in contrast to patients admitted directly to intensive care unit (ICU). Normal EEG was associated with good outcome ( P = 0.04; OR, 3.3; CI, 1.01-10.88) even after adjustment of the confounders, whereas patients having marked EEG slowing had a poor outcome ( P = 0.05; OR, 2.4; CI, 0.65-8.79). Among the clinical parameters, hemiparesis ( P = 0.03), trauma ( P = 0.01), generalized tonic-clonic seizures (GTC) ( P = 0.00), and National Institutes of Health Stroke Scale of more than 4 were more likely associated with a poor outcome as well as the presence of intracranial hemorrhage (ICH) or infarction in the cortical and cortical/subcortical locations were associated with poor outcomes. After adjustment of confounders, the factors found to have prognostic significance in favor of good outcomes were inpatients or OPD referrals and normal EEG while direct admission to ICU, marked slowing on EEG, and presence of ICH were found to be associated with poor outcome. CONCLUSION: Certain patterns are predictive of good or worse outcomes in stroke patients. Early identification of these factors can lead to early intervention, which in turn might help in a better outcome. The results of the study, therefore, have some prognostic significance.

Résumé Objectif:Étant donné que l'AVC est toujours considéré comme une cause importante de mortalité et de morbidité, il est crucial de trouver les facteurs qui influent sur le résultat dansces patients. Notre objectif était d'interpréter les différents paramètres cliniques et expérimentaux et d'établir leur association avec le résultat de l'AVC patient. Matériaux et méthodes: Il s'agit d'une étude transversale rétrospective, réalisée au Département de neurologie à partir de juin 2019 à novembre 2021 et comprenait l'examen et l'analyse des dossiers médicaux de 264 patients admis avec un diagnostic d'AVC. Divers profils cliniques, radiologiques et électroencéphalographiques (EEG) chez les patients victimes d'un AVC ont été analysés et leur association avec les résultats a été créé. L'association entre les variables étudiées a été réalisée par régression logistique (LR) et présentée sous forme de rapport de cotes (RC) et intervalle de confiance (IC) à 95 %.Résultats:L'échantillon de l'étude comprenait 264 patients. Les hommes représentaient 165 (62,5 %) avec le participant moyen âge de 57,17 ± 18,7 3 ans (intervalle : 18­94). Les patients de moins de 50 ans avaient une meilleure probabilité d'obtenir un bon résultat par rapport aux patients Le lieu d'admission était le facteur le plus important dans la prédiction du résultat (P = 0,00) en faveur du service d'hospitalisation et le service ambulatoire (OPD), contrairement aux patients admis directement à l'unité de soins intensifs (USI). Un EEG normal était associé à un bon résultat (P = 0,04; RC, 3,3; IC, 1,01-10,88) même après ajustement des facteurs de confusion, alors que les patients ayant marqué un ralentissement de l'EEG avaient un faible plus de 50 ans. résultat (P = 0,05; RC, 2,4; IC, 0,65-8,79). Parmi les paramètres cliniques, hémiparésie (P = 0,03), traumatisme (P = 0,01), tonico-clonique généralisé les convulsions (GTC) (P = 0,00) et l'échelle des accidents vasculaires cérébraux des National Institutes of Health de plus de 4 étaient plus susceptibles d'être associés à un mauvais résultat comme ainsi que la présence d'hémorragie intracrânienne (ICH) ou d'infarctus dans les emplacements corticaux et corticaux/sous-corticaux étaient associés à une Résultats. Après ajustement des facteurs de confusion, les facteurs ayant une signification pronostique en faveur de bons résultats étaient les patients hospitalisés ou l'OPD les renvois et l'EEG normal pendant l'admission directe à l'USI, le ralentissement marqué de l'EEG et la présence de PCI se sont avérés être associés à une mauvaise résultat.Conclusion:Certains modèles sont prédictifs de résultats bons ou pires chez les patients victimes d'un AVC. L'identification précoce de ces facteurs peut conduire à une intervention précoce, ce qui pourrait à son tour aider à obtenir de meilleurs résultats. Les résultats de l'étude ont donc une certaine signification pronostique.