Population record
Saudi Arabia · 24 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “TTC19-related mitochondrial complex III deficiency: Clinical and genetic characterization of 10 patients from 5 unrelated Arab families. In a Saudi family, A novel in-frame TTC19 variant NM_017775.4:c.680_709del; p.(Glu227_Leu236del) was identified, resulting in the loss of 10 amino acids in the protein.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Novel Homozygous Splice Variant in the NUP188 Gene Causing Sandestig-Stefanova Syndrome in a Saudi Patient. To date, only 10 cases have been reported in the literature.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi Arabia. Here we present JaSaPaGe, a pangenome graph reference for Saudi Arabian and Japanese populations, both of which have been significantly underrepresented in previous genomic studies. We constructed JaSaPaGe from high-quality phased diploid assemblies which were made utilizing PacBio high-fidelity long reads, Nanopore long reads, and Hi-C short reads of 9 Saudi and 10 Japanese individuals. Quality evaluation of the pangenome graph by variant calling showed that our pangenome outperformed earlier linear reference genomes (GRCh38 and T2T-CHM13) and showed comparable performance to the pangenome graph provided by the Human Pangenome Reference Consortium (HPRC), with more variants found in Japanese and Saudi samples using their population-specific pangenomes. This pangenome reference will serve as a valuable resource for both the research and clinical communities in Japan and Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients. The aim of this study was to identify pathogenic mutations in the NRAS gene causing colorectal cancer in the Saudi population. We enrolled 80 CRC tumor tissue samples and performed molecular analyses to establish the mutation spectrum status in the western region of Saudi Arabia. We identified 5 different mutations in 10 patients, 4 of whom were reported previously (G10R, E37K, Q61K, and Q61*) in the literature while we discovered one novel lethal insertion mutation (E49R).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Randomised controlled trials and case series with fewer than 10 patients were excluded. RESULTS: From 884 records, 23 studies were included, originating primarily from Saudi Arabia (n=8) and Iran (n=4). For anti-tumour necrosis factor (TNF) therapy, a Kuwaiti study of biologic-naive patients found 12-month endoscopic remission rates with infliximab of 56% for ulcerative colitis (UC) and 53% for Crohn's disease (CD), while a Saudi study reported higher odds of treatment failure with adalimumab versus infliximab (OR=26.91). Ustekinumab demonstrated strong efficacy, achieving 76.9% clinical remission at 52 weeks in a Saudi paediatric anti-TNF refractory IBD cohort and showing higher probability of effectiveness than vedolizumab in another Saudi study.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This study was designed to evaluate the disease burden in parents of patients with EB and identify out-of-pocket (OOP) expenditures for EB care in Saudi Arabia. PATIENTS AND METHODS: Thirty-eight caregivers of patients with EB were recruited from the Saudi EB registry to participate. The sample included 10 patients with EB simplex (EBS), 10 with junctional EB (JEB), 14 with dystrophic EB (DEB), and 4 with an unknown type.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The aim of this study was to investigate the roles of cytokine levels and the association of single-nucleotide polymorphisms (SNPs) within cytokine genes with T1DM in Saudi children. Moreover, our data demonstrated no appreciable diferences in circulating serum level or genotype and phenotype of IL- 10 between the patients and controls. CONCLUSION: This kind of measurement, which considers the prediction of T1DM, may be useful in assessing the severity of T1DM and susceptibility to T1DM among Saudi children.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Background and Objectives: Colon cancer (CC) is the second most common cancer in Saudi Arabia, and the number of new cases is expected to increase by 40% by 2040. Materials and Methods: HSPB6 expression was investigated in extracted RNA taken from 10 patients with CC and their adjacent normal tissues, as well as in DMH-induced CC and a colon treated with saline taken from a male Wistar rat.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In this report, we present the case of a Saudi baby boy with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1. To date, only 10 cases have been reported within or spanning the deletion of the 2q13-2q22.1 region.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy. Moreover, targeted Sanger sequencing analysis showed c.1212A>G p.Val404Ile in SCN1A gene in 10 unrelated patients and a mutation in Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 gene where one base pair insertion of "G" c.78_79insG, p.Asp27Glyfs*26 in the exon 3 in three different patients were observed from the cohort of 25 epileptic sporadic cases. Here, we have described, for the first time, three novel mutations that may be associated with epilepsy in the Saudi population. The study not only help us to identify the exact cause of genetic variations causing epilepsy whereas but it would also eventually enable us to establish a database to provide a foundation for understanding the critical genomic regions to control epilepsy in Saudi patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Establishing a Reference Dose-Response Calibration Curve for Dicentric Chromosome Aberrations to Assess Accidental Radiation Exposure in Saudi Arabia. There was no effect of age or sex in this cohort of 10 young adults.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To date, 10 cases of optic neuropathy have been reported. Results: Two-thirds were Saudi nationals and one third, Syrian.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Detection and Genotyping of Helicobacter pylori among Gastric ulcer and Cancer Patients from Saudi Arabia. METHODS: We used FFPE tissues of 35 GC and 10 GU patients' biopsy samples.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “MATERIAL AND METHODS: This is a retrospective case series including all patients above 13 years of age with arthritis patients from four centers in Saudi Arabia with concurrent chronic viral hepatitis infection (HBV or HCV) who received biological agents in the rheumatology clinics during their course of their disease from duration of the disease onset until last outpatient visit up to November 2015. RESULTS: We identified 10 cases each with HBV and HCV on biological therapy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Prevalence and histopathological characteristics of corneal stromal dystrophies in Saudi Arabia. PURPOSE: The aim was to determine the frequency and describe the main histopathologic features of corneal stromal dystrophy in Saudi Arabia. All eyes underwent penetrating keratoplasty (PKP) except 10 MCD cases that underwent lamellar keratoplasty. CONCLUSION: This pathological study suggested that MCD was the most common corneal stromal dystrophy that required keratoplasty in Saudi Arabia. The clinical diagnosis of MCD is not achieved in all cases likely due to a more severe phenotype in the Saudi population or the presence of corneal scarring that is associated with previous trachoma, which obscures the classical appearance of LCD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: We enrolled 10 patients meeting the diagnostic criteria for BBGD, and analyzed the data on 14 patients from 4 previous reports. The BBGD occurred predominantly in preschool/school-aged patients in the Saudi population, but it was also observed in other ethnic groups.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Matrix metalloproteinase-2 (-1306 c>t) promoter polymorphism and risk of colorectal cancer in the Saudi population. In the present study, we investigated whether this MMP-2 genetic polymorphism might be associated with susceptibility to colorectal cancer (CRC) in the Saudi population. MATERIALS AND METHODS: TaqMan allele discrimination assays and DNA sequencing techniques were used to investigate the C-1306T SNP in the MMP-2 gene of Saudi colorectal cancer patients and controls. RESULTS AND CONCLUSIONS: The MMP-2 C-1306T SNP in the promoter region was associated with CRC in our Saudi population and the MMP-2 gene expression level was found to be 10 times higher in CRC patients. The MMP-2 C-1306T SNP is significantly associated with CRC in the Saudi population and this finding suggested that MMP-2 variants might help predict CRC progression risk among Saudis.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: Twenty Saudi Arabian patients with isolated keratoconus, no family history of the disease and no mutations in VSX1 were recruited. Additionally, 10 ethnically-matched healthy controls were also recruited for this study.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular genotyping of hemophilia A in Saudi Arabia: report of 2 novel mutations. We report the result of the first molecular testing for or F8 mutations from Saudi Arabia. F8 Intron 22 inversion was detected in 10 patients (50%) of severe cases. This is the first report of molecular genotype of hemophilia A in the Saudi population and one of the few for Arab population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: The authors screened for GJA12 mutations in 10 additional PMLD families originating from Italy, Pakistan, and Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Ten new patients with ataxia telangiectasia-like disorder (ATLD) from three unrelated Saudi Arabian families have been identified aged 5-37 representing the largest cohort of ATLD patients ever identified.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We describe 10 patients (6 females and 4 males) from 6 unrelated families with an autosomal recessive disease characterized by simultaneous presentation of nodulosis, arthropathy and osteolysis. They were followed up regularly at King Faisal Specialist Hospital and Research Center in Saudi Arabia for clinical evaluation, serial blood work-up, and evaluating radiological changes.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Burns in epileptics in Saudi Arabia. In a prospective study, 10 cases of burns in epileptics in Saudi Arabia, occurring over a five year period, were included. Recommendations regarding prevention of burn injuries in epileptics in Saudi Arabia are given.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital chloride diarrhea (CCD) is a common metabolic disorder in Saudi children with an incidence of 1 in 5,500. The present retrospective study from Saudi Arabia, over 7.5 years, presents the clinical, biochemical, and treatment details in 10 children with CCD.” | 0.95 | saudi_context_rules_v1 |