Population record
Saudi Arabia · 13 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Integrating pharmacogenomics in three Middle Eastern countries' healthcare (Lebanon, Qatar, and Saudi Arabia): Current insights, challenges, and strategic directions. Despite global advancements, its implementation in Lebanon, Qatar, and Saudi Arabia faces unique challenges in clinical integration. METHODS: This cross-sectional study utilized an anonymous, self-administered online survey distributed to healthcare professionals, academics, and clinicians in Lebanon, Qatar, and Saudi Arabia. The survey comprised 18 questions to assess participants' familiarity with PGx, current implementation practices, perceived obstacles, potential integration strategies, and future educational needs. Qatar and Saudi Arabia participants were more familiar with PGx compared to Lebanon (83%, 75%, and 67%, respectively). Participation in PGx-related talks was most prevalent in Saudi Arabia (96%), followed by Qatar (53%) and Lebanon (35%). Lebanon reported the highest concern for test costs (16%), compared to the lowest in Saudi Arabia (5%). Educational interest areas varied by country, with strong interest in PGx for cancer chemotherapy in Saudi Arabia and Lebanon and for diabetes mellitus in Qatar. CONCLUSION: This study highlights the significant influence of varied educational backgrounds and infrastructural limitations on PGx implementation across Lebanon, Qatar, and Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Prevalence, Risk Factors, and Management of Irritable Bowel Syndrome in Saudi Arabia: A Systematic Review. The prevalence and associated risk factors of irritable bowel syndrome (IBS) have been a significant area of focus in several studies conducted in Saudi Arabia. The aim of this review is to collate, compare, and analyze data from these studies, hoping to shed light on the key risk factors and demographic trends associated with IBS in Saudi Arabia. This review encompasses data from 20 studies, aggregating information from 17,018 participants. Furthermore, the review incorporates details on the socio-demographic attributes of the participants, including age specifics, gender representation, and geographical distribution within Saudi Arabia. The overall prevalence of IBS in Saudi Arabia based on the provided data is approximately 24%. In light of the presented data, it is evident that IBS prevalence in Saudi Arabia is influenced by a multitude of factors, ranging from genetic and dietary to psychological and socioeconomic. The substantial variations in prevalence across different cohorts suggest the need for a more nuanced understanding of this condition, specifically tailored to the unique demographics and cultural contexts of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease. The aim of the current study was to characterize gene variants of VWF gene; exon 18 in particular, in a cohort of Saudi families as well as healthy control subjects.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings. The clinical details of 18 patients from Saudi Arabia were reviewed.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. CONCLUSION: We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families. In this study, we report a homozygous mutation c.-331C>G in the INS gene causing autosomal recessive neonatal diabetes in Saudi families and share our experience with diagnosis and management. We identified 18 cases, and all underwent genetic testing to identify the cause. RESULTS: Four patients from 3 Saudi families had mutations in the INS gene. CONCLUSION: This report indicates that a homozygous mutation in the INS gene is a probable and important cause of neonatal diabetes in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II. Objective of this study is to identify the chromosomal region(s) associated with Waardenburg syndrome in an extended Saudi family. METHODS: Genomic DNA was extracted from fifteen individuals of a Saudi family segregating Waardenburg syndrome. CONCLUSIONS: In summary, we identified novel chromosomal regions associated with Waardenburg syndrome type II in a Saudi family.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. Our work provides insight into the correlation of genotypes and outcome of ERT in IOPD in Saudi Arabia. Our data suggest that early detection of cases, through newborn screening, and immunomodulation before the initiation of ERT may improve the outcome of ERT in Saudi infants with IOPD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Assessment of IL-18 Serum Level and Its Promoter Polymorphisms in the Saudi Coronary Artery Disease (CAD) Patients. The purpose of the current study was to find out the possible changes polymorphic site at the promoter region of IL-18 gene in Saudi CAD patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: A retrospective study of 18 patients with infantile spasms recruited from the Pediatric Unit at King Fahd Hospital of the University, Dammam University, Saudi Arabia was carried out between January 2004 and December 2008.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: To determine the incidence of extramedullary tumors (EMT) in Saudi Arabian children with acute myeloid leukemia, the factors associated with these tumors and the impact of local treatment on local tumor control, complete remission and survival rates. Systemic and local EMT CR was achieved in 17 of 18 patients with EMT, including 12 patients who underwent radiation treatment and 5 of 6 of those who did not.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Using amplification, allele-specific oligonucleotide (ASO) hybridization and DNA sequencing we have documented the molecular basis of 64 alpha- and 123 beta-thalassemia (thal) chromosomes, and the haplotypes of 18 beta S chromosomes from patients followed in three hospitals in Kuwait. 31 (Saudi Arabia/India); 3 had haplotype No.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Elimination studies of antipyrine and its metabolites in healthy Saudi Arabians. We measured the antipyrine clearance in 18 healthy Saudi subjects and determined the urinary excretion of three of its metabolites: 4-hydroxyantipyrine (4-OH AP), norantipyrine (NOR AP) and 3 hydroxymethylantipyrine (3-OHM AP) in 21 subjects.” | 0.95 | saudi_context_rules_v1 |