Population record
Saudi Arabia · 16 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Adolescents and Transition-Age Youths with Intellectual Disabilities in Saudi Arabia: An Exploration of Parental Perspectives. The current study explores the social experiences of adolescent and transition-age youths with intellectual disabilities (IDs) and the support mechanisms available to these groups in Saudi Arabia. This study adopts a qualitative methodology with a semi-structured interview constituting the data collection method involving 13 parents with children aged between 11 and 19 years, a critical adolescent period and transition to early adulthood. The current study contributes to the limited research related to IDs in the context of the Middle East, with special reference to Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A new species of the genus Cardiodectes Wilson, 1917 (Siphonostomatoida: Pennellidae), Cardiodectes tofaili n. sp., is described based on 13 adult females from ten specimens of the endemic lightfish Vinciguerria mabahiss (Stomiiformes: Phosichthyidae). These hosts were inadvertently captured by a remotely operated vehicle at depths of 454-645 m in the pelagic waters of the Saudi Arabian Red Sea.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genomic landscape in Saudi patients with hepatocellular carcinoma using whole-genome sequencing: a pilot study. BACKGROUND AND AIMS: Hepatocellular carcinoma (HCC) is the third most prevalent cancer in Saudi Arabia. This study aims to unravel the genomic characteristics of HCC patients in Saudi Arabia, investigate the genetic makeup of tumors in both sorafenib-sensitive and sorafenib-resistant patients, and analyze the functional implications of genomic abnormalities observed in these individuals. RESULTS: Out of the 13 patients who received sorafenib, three exhibited sorafenib sensitivity, while the others showed resistance to the drug.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait. Two novel homozygous missense SLC19A3 variants were detected in a Kuwaiti and a Jordanian individuals, in addition to the previously reported Saudi founder homozygous variant, c.1264A > G; p.(Thr422Ala) in the remaining cases.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia. Increasing numbers of patients are being diagnosed with Long QT syndrome in Saudi Arabia. Using semi-structured interviews, this study explored the role of Islam on the lived experience of 13 Saudi participants diagnosed with autosomal dominant Long QT syndrome (3/13) or who are carriers of Jervell and Lange-Nielsen syndrome (10/13).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Invasive aspergillosis of the central nervous system in immunocompetent patients in Saudi Arabia: Case series and review of the literature. We present in this study three cases that were treated in our centre and reviewed the results of similar studies from Saudi Arabia. We also reviewed the literature for any similar series published from Saudi Arabia. Clinical outcome was reported as cured or no recurrence in 13 cases (47%).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort. METHODS: We retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “PURPOSE: We compared various clinical characteristics of psychogenic nonepileptic seizures (PNES) between young patients from Iran, Saudi Arabia, and Canada, three nations with significantly different socioeconomic and demographic characteristics. METHODS: In this retrospective study, we investigated all patients 16 years of age or younger, with PNES admitted to the epilepsy monitoring units at one center in Iran, one center in Saudi Arabia, and one center in Canada. RESULTS: Fifty-one patients were studied (22 from Iran, 14 from Saudi Arabia, and 15 from Canada). Twenty-six (51%) patients were taking antiepileptic drugs at the time of diagnosis; the difference was not statistically significant between the nations (13 patients in Iran, 6 in Saudi Arabia, and 7 patients in Canada; P = 0.5).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Congenital disorders of glycosylation: The Saudi experience. We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. The combined carrier frequency of CDG for the encountered founder mutations in the Saudi population is 11.5 per 10,000, which translates to a minimum disease burden of 14 patients per 1,000,000.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Screening for Mutations in ABCC8 and KCNJ11 Genes in Saudi Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Patients. In the present study, we describe the clinical features and results of genetic analysis of 13 Saudi Arabian patients with PHHI. Our data shows that large deletions in ABCC8 gene are the common genetic mechanism in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. In this study, we describe the clinical presentations of 22 homocystinuria patients from 13 Saudi Arabian families and 1 North African Sudanese family. In the Saudi families, a novel nonsense mutation, p.Trp323X, and recurrent p.Arg336Cys and p.Gly153Arg mutations were identified in the CBS gene. The p.Trp323X mutation was found in 10 of the 13 unrelated Saudi families. This study shows that the spectrum of CBS gene mutations in Saudi homocystinuria patients is quite different than the Arab patients from Qatar and Israel. This study is the only detailed phenotypic and genetic depiction of homocystinuria patients from Saudi Arabia and Sudan. The data are useful for diagnosis and management of Saudi patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We have analyzed the alpha gene cluster of 13 patients showing the presence of Hb H to establish the molecular background of this disease in southwest Iran (Shiraz and Hormozgan provinces). Using gap-polymerase chain reaction (gap-PCR) and direct DNA sequencing we have found the --MED-I deletion, the polyadenylation signal (poly A) mutations alphaT-Saudi alpha and alphaT-Turkish alpha and Hb Constant Spring (Hb CS) in association with the common -alpha3.7 deletion. This study has revealed that: 1) at least six genotypes are responsible for Hb H disease in the area: .-alpha3.7/ --MED-I; -alpha3.7/alphaT-Saudi alpha; alphaT-Saudi alpha/alphaT-Saudi alpha; alphaCSalpha/--MED-I; --MED-I/alphaT-Turkish alpha; and the atypical forms of Hb H disease -alpha3.7/alphaCSalpha.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Localized granuloma annulare and autoimmune thyroiditis in a Saudi patient: report of a new case. The association of granuloma annulare (GA) and autoimmune thyroiditis has been documented in the literature in 13 previous cases. We present herein the report of a 37-year old Saudi female who presented with autoimmune thyroiditis associated with GA.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. In four kindreds from Saudi Arabia, a recessive loss-of-function frameshift insertion (g.315_316insA) was found.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Some people in a Saudi Arabian population, however, have been described previously with ultrarapid GSTM1 enzyme activity. Genomic DNA from two Saudi Arabian subjects exhibiting ultrarapid enzyme activity and from 13 Swedish subjects having null, one, or two GSTM1 genes were subjected to restriction fragment length polymorphism analysis using the restriction enzymes EcoRI, EcoRV, and HindIII and combinations thereof. The two Saudi Arabians with ultrarapid GSTM1 activities had ratios of approximately 1.5, indicating that they carried three GSTM1 genes.” | 0.95 | saudi_context_rules_v1 |