Population record
Saudi Arabia · 17 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “High-Throughput Whole-Exome Sequencing and Large-Scale Computational Analysis to Identify the Genetic Biomarkers to Predict the Vedolizumab Response Status in Inflammatory Bowel Disease Patients from Saudi Arabia. The aim of the study was to explore the genetic profile of vedolizumab-treated Arab IBD patients in Saudi Arabia to identify the potential biomarkers to differentiate the responders from non-responders. Methods: A cohort of 16 patients with IBD, including 4 with Crohn's disease and 12 with ulcerative colitis, were recruited. Conclusions: This investigation is the first to apply whole-exome sequencing to identify the potential drug response biomarkers for the IBD drug VDZ in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “First case of topiramate-induced acute bilateral transient myopia in Saudi Arabia: case report and literature review. LITERATURE REVIEW: A review of 9 studies, which included 16 cases for topiramate induced acute myopia encompassing 18 patients revealed a predominance of females (12).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: Genetic disorders are common in Saudi Arabia. MATERIALS AND METHODS: An inductive qualitative design of 16 caregivers of children with genetic disorders was done to investigate the identification and referral process to physical therapy. CONCLUSION: The results of this study could indicate that more efforts are required to expedite and elucidate the identification and referral of children with genetic disorders in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE PRESENTATION: We report a 19-year-old Saudi female referred to the gynecology clinic at the age of 16 as a case of primary amenorrhea.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The use of therapeutic drug monitoring for early identification of vedolizumab response in Saudi Arabian patients with inflammatory bowel disease. The aim of the study was to assess the effectiveness of the induction of vedolizumab trough level in predicting short-term (week 14) clinical outcomes, and covariates that affect the response in Saudi Arabian patients. This prospective, real-life study included a total of 16 patients (4 Crohn's disease (CD) and 12 ulcerative colitis (UC)) with a confirmed diagnosis of IBD and generally naïve to receiving vedolizumab therapy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients. In a group of 16 unrelated Saudi patients clinically suspected of PCD and among whom only 5 (31%) had LD, we first screened by PCR-RFLP two founder mutations, RSPH9 c.804_806del and CCDC39 c.2190del previously identified in patients from the Arabian Peninsula and Tunisia, respectively. These results, which highlight the genetic heterogeneity of PCD in Saudi Arabia, show that the RSPH9 c.804_806del mutation is a prevalent mutation among Saudi patients, whereas the CCDC39 c.2190del ancestral allele is most likely related to the Berber population. This study shows that RSPH9 founder mutation first-line screening and NGS analysis is efficient for the genetic exploration of PCD in Saudi patients. The RSPH9 founder mutation accounts for the low rate of LD among Saudi patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “AIM: To identity genetic predispositions of dental caries among Saudi children with high DMFT (Decayed, Missing, and Filled Teeth). DESIGN: This case-control study analysed putative functional exonic-variants (n = 243,345) to study the molecular genetics of pediatric caries with high dmft index, 8.75 ± 4.16 on Arab-ancestry subjects with primary dentition (n = 111; 76 cases, dmft>5 and 35 controls, dmft = 0).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The efficacy of non-fasting ketogenic diet protocol in the management of intractable epilepsy in pediatric patients: a single center study from Saudi Arabia. RESULTS: Of 16 children included in the study, nine (56%) experienced significant seizure improvement, with three becoming seizure-free during the KD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Assessment of Metastatic Colorectal Cancer (CRC) Tissues for Interpreting Genetic Data in Forensic Science by Applying 16 STR Loci among Saudi Patients. MSI and LOH were estimated in DNA patterns derived from 73 Saudi respondents (30 healthy individuals and 43 persons with diagnosed colorectal cancer (CRC). CONCLUSION: This study is unique in demonstrating the application of 16 autosomal STRs from CRC samples and their comparison with the adjoining N-CRCs in Saudi participants, contributing to the field of forensic science.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “To date, there is limited data on the genetic basis of PAH in the Arab region, and none from Saudi Arabian patients. This study aims to identify genetic variations and to evaluate the frequency of risk genes associated to PAH, in Saudi Arabian patients. Adult PAH patients, diagnosed with IPAH and pulmonary veno-occlusive disease, of Saudi Arabian origin, were enrolled in this study. Overall, we identified variations in nine genes previously associated with PAH, in 16 patients. Our results highlight the genetic etiology of PAH in Saudi Arabia patients and provides new insights for the genetic diagnosis of familial and IPAH as well as for the identification of the biological pathways of the disease.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exome sequencing of Saudi Arabian patients with ADPKD. Here, we report exome sequencing of 16 Saudi patients diagnosed with ADPKD and 16 ethnically matched controls. These variants have not been previously observed in the Saudi population. Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. One Sudanese family of Arab descent residing in Saudi Arabia harbored a homozygous c.464A>G, p.Asn155Ser mutation in PYROXD1, a gene recently reported in association with myofibrillar myopathy and whose protein product reduces thiol residues.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A high rate of novel CYP11B1 mutations in Saudi Arabia. We report a high rate of novel mutations in this gene (CYP11B1) in patients from Saudi Arabia. We studied 16 patients with 11β-OHD from 8 unrelated families. We conclude that 11 β-OHD in Saudi Arabia has a unique genotype with a high rate of novel mutations.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Molecular detection of BCR/ABL fusion gene in Saudi acute lymphoblastic leukemia patients. PATIENTS AND METHODS: Twenty newly diagnosed ALL patients, 16 adult and 4 paediatric cases, were included in the study, 11 cases (55%) were of precursor B phenotype, 8 cases (40%) belonged to T lineage, while one case was biphenotypic expressing mainly precursor B cell markers tether with CD13, CD33, CD117, Detection of BCR/ABL fusion gene was done using interphase FISH technique and was confirmed molecularly using the RT-PCR technique.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Argininosuccinase deficiency is relatively more common in Saudi Arabia than other urea cycle detects (UCD) and its presentation is usually acute and virtually identical to the clinical presentation of other UCD. Using this approach for two years we diagnosed 16 ALD cases from 14 hyperammonemic infants, one high-risk newborn, and one from a regular newborn screening blood spot.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Application of DNA-based tests for diagnosis of spinal muscular atrophy in Saudi Arabia. The study included 16 Saudi patients (9 SMA type I and 7 SMA type II) and 6 healthy Saudi volunteers. The incidence of NAIP deletion was higher in the more severe SMA cases and the dual deletion of the SMN and NAIP genes was more common in Saudi SMA type I patients compared with patients of other ethnic groups.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Splenectomy in compound heterozygous hemoglobinopathies in Saudi Arabia. Hemoglobinopathies are a major public health problem in Saudi Arabia. We studied the effect of splenectomy in 16 Saudi Arabian children with compound hemoglobinopathies.” | 0.95 | saudi_context_rules_v1 |