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Population record

Saudi Arabia · 11 retained evidence mentions

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
populationSaudi Arabia“Psychiatric symptoms and quality of life in Saudi individuals with epilepsy receiving perampanel: A cross-sectional comparative study. Given the potential influence of genetic, cultural, and psychosocial factors on psychiatric vulnerability, this study aimed to describe psychiatric symptoms and health‑related quality of life in Saudi individuals with epilepsy treated with PER compared with controls not receiving PER, and to explore clinical factors associated with these outcomes. RESULTS: Forty‑seven participants were included (23 PER‑treated; 24 controls). CONCLUSION: In this small Saudi cohort, PER treatment was not associated with a demonstrable increase in psychiatric symptom burden compared with controls, whereas titration speed and polytherapy appeared related to mood and quality‑of‑life measures.”0.95saudi_context_rules_v1
populationSaudi Arabia“The direct costs of transfusion-dependent beta-thalassemia in Saudi Arabia: A cost of illness analysis study. Saudi Arabia has one of the highest prevalences of thalassemia in the world, based on available data. Data on transfusion-dependent β-thalassemia (TDT) patients were collected through medical health records at a tertiary center in Saudi Arabia between 2018 and 2022. The direct cost of TDT was estimated at $28,097.24 per patient-year. Based on the most recent data on the prevalence of thalassemia in the population, the annual cost of thalassemia in Saudi Arabia is estimated at $393.3 million. TDT imposes a significant cost burden in Saudi Arabia, and the cost is likely to be exponentially higher if indirect expenses are incorporated.”0.95saudi_context_rules_v1
populationSaudi Arabia“Whole-exome sequencing in Saudi colorectal cancer patients reveals distinct mutational patterns and population specific pathogenic variants. This exploratory study aims to characterize somatic mutations and disrupted signaling pathways in Saudi Arabian CRC patients. METHODS: We performed whole-exome sequencing (WES) on tumor DNA from 24 Saudi CRC patients. CONCLUSION: Our results reveal a distinct mutational profile in Saudi CRC patients, characterized by novel and enriched somatic variants affecting key oncogenic pathways.”0.95saudi_context_rules_v1
populationSaudi Arabia“METHODS: For this case series, we identified children affected by a severe, acute-onset axonal neuropathy following infection through an international research consortium of paediatric neurologists and clinical geneticists from nine countries (Canada, Cyprus, Czechia, Germany, Iran, Saudi Arabia, Slovakia, Türkiye, and the UK). FINDINGS: Between Nov 2, 2011, and July 10, 2024, we identified 24 individuals from 12 families who had severe, acute-onset axonal neuropathy following infection (13 female and 11 male patients, with a mean age at diagnosis of 1 year 10 months [SD 2·27]).”0.95saudi_context_rules_v1
populationSaudi Arabia“ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant. Exome sequencing identified three ADAT3 variants, including the Saudi founder variant c.430G > A (p.Val144Met), which was detected in 17 patients (70%).”0.95saudi_context_rules_v1
populationSaudi Arabia“We aimed to describe the clinical features, etiology, treatment, and outcomes of NORSE in adults in a quaternary-level hospital in Saudi Arabia. RESULTS: We found 24 patients presenting with NORSE between 2010 and 2021.”0.95saudi_context_rules_v1
populationSaudi Arabia“PURPOSE: As most of the cases of avascular necrosis (AVN) in Saudi Arabia is seen in young population and as literature showed good effect of extracorporeal shock wave therapy (ESWT) in reducing pain and oedema in avascular necrosis and delaying the need of surgical intervention. MATERIAL AND METHODS: We have treated 24 patients, 13 males and 11 females with a mean age of 29 years (range 14-48) with 34 hips affected.”0.95saudi_context_rules_v1
populationSaudi Arabia“Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia. The study included 24 patients referred to the CEGMR with the provisional diagnosis of WBS and 8 parents.”0.95saudi_context_rules_v1
populationSaudi Arabia“ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus.”0.95saudi_context_rules_v1
populationSaudi Arabia“There were 24 age-matched Hb AA controls, 14 of whom were healthy while 10 were acutely ill at the time of the study. Among the SS patients, 82.1% were homozygous for the Saudi Arabia/India (SAI) haplotype with Hb F ranging from 15 to 35% and total Hb from 8.5 to 11 g/dl.”0.95saudi_context_rules_v1
populationSaudi Arabia“Classic homocystinuria: clinical, biochemical and radiological observations, and therapeutic outcome of 24 Saudi patients.”0.95saudi_context_rules_v1