Population record
Saudi Arabia · 30 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “The Immunohistochemical Prognostic Value of Nuclear and Cytoplasmic Silent Information Regulator 1 Protein Expression in Saudi Patients with Breast Cancer. METHODS: A total of 407 BC formalin-fixed paraffin-embedded (FFPE) samples were collected from King Abdulaziz University Hospital, Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Of the 12 studies, 11 were cross-sectional studies and 1 was a case-control in design. The studies were conducted in countries of the MENA region, including Saudi Arabia, Qatar, the United Arab Emirates, Palestine, Lebanon, Egypt, and Iran.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT1) gene mutation.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Human bocavirus in Saudi Arabia: Molecular epidemiology and Co-infections among children with acute respiratory tract infections during 2014-2016. In Saudi Arabia, data regarding virus molecular epidemiology and evolution and its implication in respiratory tract infection are scarce. In the current study, genetic diversity and circulation pattern of HBoV-1 among hospitalized children due to acute respiratory tract infection (ARTI) during two consecutive years were charted. Further epidemiological and molecular characterization of multiple HBoV-1 strains for different years and from all regions of Saudi Arabia are required to understand and monitor the virus evolution.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Cases of RhD variants RhD*DAU2/DAU6 and RhD*weak D type 4.1 in pregnant women in Saudi Arabia. Here, we describe two cases of RhD variants DAU2/DAU6 and Weak D type 4.1 in obstetric patients who were grouped as RhD +ve with negative antibody screening during routine serologic testing. In this case report we document to our knowledge the first reported cases of RhD variants among pregnant women in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: This multicenter retrospective cohort study was conducted at the tertiary care institutions of King Faisal Specialist Hospital and King Abdulaziz University Hospital, Saudi Arabia, from March 2012 to March 2022. Group 1 comprised patients with VSD related to the surgical patches, while Group 2 included residual muscular VSD.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Measuring the Impact of Flash Glucose Monitoring in a Pediatric Population in Saudi Arabia: A Retrospective Cohort Study. METHODS: A retrospective cohort study of pediatric and adolescent type 1 diabetes mellitus patients randomly sampled from 32 Ministry of Health diabetes centers across Saudi Arabia was performed.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “We comprehensively analyzed the medical records of 6 Saudi and 1 American patients (including 5 previously unpublished cases) with a molecularly confirmed diagnosis of KFS4. The causal MYO18B variants were a founder NM_032608.5:c.6905C>A; p.(Ser2302*) variant in the Saudi patients (P1-P6) and a novel MYO18B homozygous variant (c.6660_6670del;p.[Arg2220Serfs*74]) in the American Caucasian patient (P7).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population. Herein, we evaluated the association of the Toll-like receptor 6 (TLR6) single nucleotide polymorphisms (SNPs) rs3796508 (Val327Met) and rs5743810 (Ser249Pro) with breast cancer (BC) susceptibility in Saudi Arabian women, using in silico analysis. Advanced analysis based on the comparison of the estrogen receptor (ER)-positive and -negative patients with the healthy controls indicated a significant association between rs5743810 allelic frequency and BC risk protection (OR = 0.100, CI = 0.034-0.297, P = 0.00001 for ER+ BC cases; OR = 0.102, CI = 0.033-0.318, P = 0.00001 for ER-BC cases). Our findings therefore suggest a strong association between rs5743810 and protection against BC risk in Saudi Arabian women.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The Potential Role of PTPN-22 C1858T Gene Polymorphism in the Pathogenesis of Type 1 Diabetes in Saudi Population. In this study, we aimed to investigate the association of PTPN-22 C1858T polymorphism with T1D in Saudi children. METHODS: A cohort of 372 type 1 diabetic children and 372 diabetes-free subjects was enrolled in the current investigation. CONCLUSION: The data presented here suggests that the T allele of PTPN-22 C1858T polymorphism might be a risk factor for T1D development in Saudi children.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Association between cytokine genes polymorphisms and type 1 diabetes: a case-control study on Saudi population. The aim of this study was to investigate the association of single nucleotide polymorphisms (SNPs) within cytokine genes with T1D in a cohort of Saudi subjects. METHODS: A total of 300 well-characterized type 1 diabetic patients and 300 T1D-free control subjects were enrolled in this investigation. CONCLUSION: Our data concluded that IFN-γ +874T allele, TNF-α -308A allele, IL-1β -511T allele, and IL-4 -590T allele could be considered risk factors for T1D development in Saudi subjects.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family. Identity-by-descent (IBD) analysis on whole genome genotyping data identified a shared haplotypes on chromosome 1 in affected individuals.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Genotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls were analyzed according to serum AAT concentration, phenotyping, and genotyping.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. METHODS: We used Sanger sequencing to detect the pathogenic mutations in KCNQ1 gene in eight families from Saudi Arabia with autosomal recessive LQT1. These mutations could be used for targeted screening in cardiac arrhythmia patients in Saudi Arabia and in people of Arabic ancestry.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel IRF-1 Mutations in a Small Cohort of Leukaemia Patients From Saudi Arabia. In the light of numerous reports on genetic changes in the noncoding region of the IRF-1 gene, this study aimed to explore possible genomic changes in coding and non-coding regions of IRF-1 in a random sample of leukemic Saudi patients, in order to obtain insights into potential impact of genetic changes on clinicopathological characteristics.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The associations of KIRs and/or HLA class 1 ligands in leukemic patients have been studied in some populations, with some of these studies demonstrating an association of specific types with leukemia. KIRs and their corresponding HLA class 1 ligands were investigated in Saudi patients with ALL and AML and compared to healthy controls.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Association of IL-37 gene polymorphisms with susceptibility to tuberculosis in Saudi subjects. IL-37, a novel member of the IL-1 family, has anti-inflammatory activity. The aim of this case-control study was therefore to identify such an association in Saudi subjects, in which five single-nucleotide polymorphisms (SNPs) in the IL-37 gene were assessed.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “In Saudi Arabia, the consumption of carbonated soft drinks is common and often occurs with each meal. In total, 40 male Wistar rats were divided into four groups: Group 1 served as a control and was provided access to food and water ad libitum; and groups 2‑4 were given free access to food and carbonated soft drinks only (Cola for group 2, Pepsi for group 3 and 7‑UP for group 4).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Array-comparative genomic hybridization analysis of a cohort of Saudi patients with epilepsy. Microdeletion of 14q31.1 was observed in four patients including two from the same family with loss of the NRXN3 gene; microdeletion of 15q12 in one patient with loss of the GABRG3 gene, and microduplication of 20q13.33 in three patients with loss of the gene group CHRNA4, KCNQ2, EEF1A2 and PPDPF were also found. We have described, for the first time, numerous potential CNVs/genes implicated in epilepsy in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE PRESENTATION: We report on a 13-month-old Arabic Saudi girl with Vitamin D dependent rickets type 1 presented with multiple fractures and classic features of rickets. CONCLUSION: The deleterious effect of this alteration, which was the only mutation detected in the CYP27B1 common gene of Vitamin D dependent rickets type 1 in the proband, and its autosomal recessive inheritance fashion, both support a pathogenic nature of this mutation as the cause of Vitamin D dependent rickets type 1.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel mutations of the PARP-1 gene associated with colorectal cancer in the Saudi population. In Saudi Arabia, CRC accounts for 8.5% of all tumors; it ranks first among all cancers in males and third among females. The aim of this study was to link between different PARP-1 mutations and risk of CRC in Saudi population and to determine common variants of PARP-1 in Saudi CRC patients and normal individuals. Our results suggest that PARP-1 Lys933Asn and Lys945Asn alterations could be associated with increased risk of CRC in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “CASE PRESENTATION: We report two Saudi siblings with TT1. Case 1 was a male infant who presented at 2 months old with fever, vomiting and refusal of feeding.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “BACKGROUND: Every year more than 2 million pilgrims from different countries in the world including Iran participate in the annual Hajj in Saudi Arabia. Eighty-three patients (32.5%) had viral pathogens: influenza in 25 (9.8%), parainfluenza in 19 (7.4%), rhinovirus in 15 (5.9%), adenovirus in14 (5.4%), enterovirus in 5 (2%), and RSV in 4 (1.6%) and coinfection with two viruses in 1 patient (0.4%).” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This report describes the extent of oral human herpesvirus 8 shedding and the genomic diversity of the virus in five Saudi Arabian kidney transplantation patients in whom Kaposi's sarcoma had developed. Genotypically distinct viral strains were evident: intra-lesionally in 1 patient; intra-orally in one patient; between an oral sample and biopsy in two patients; and in four patients, between an oral sample and plasma, and between plasma and biopsy.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: The frequency of CUpsilonP3A7*2 was 8%, 17%, 28%, and 62% in white, Saudi Arabian, Chinese, and Tanzanian individuals, respectively. Interestingly, fetal livers that expressed CYP3A7.2 also expressed CYP3A5 protein, and we found a linkage disequilibrium between the CUpsilonP3A7*2 and CUpsilonP3A5*1 alleles that was subject to interethnic differences.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel presenilin 1 mutation associated with early-onset Alzheimer`s disease in a Saudi patient. We report a 60-year-old Saudi patient with the clinical diagnosis of Alzheimer`s disease (AD) and a novel mutation in the presenilin gene. We investigated mutations in the presenilin-1 gene in Saudi patients with AD using polymerase chain reaction and direct DNA sequencing methods.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “This paper documents a small experience with this operation in Saudi Arabia. 1 patient was lost to follow up. CONCLUSION: The operation of restorative proctocolectomy can be performed safely, for the few patients who needed the operation in Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “The haplotypes of 92 beta s chromosomes (from 39 SS, 11 AS, 2 S beta-thalassemia [S beta-thal] and 1 SD individuals) were determined using an allele-specific oligonucleotide (ASO) hybridization technique, while the alpha-globin gene status of 27 SS and 33 AS individuals, i.e. Haplotype 31 (Saudi Arabia/India) is the most frequent in this community, being present in 80.4% of the chromosomes tested; Benin haplotype 19 was found in 12.0% and Bantu haplotype 20 in 6.5%. The high frequencies of the Saudi Arabia/India beta s haplotype and alpha-thalassemia trait contribute to the mild nature of SS disease among Kuwaiti Arabs comparable to that in eastern Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Serological profiles for HBV, HDV, HIV-1 and HTLV-1 in Saudi patients with a malignancy. Serologic markers for HBV, HDV, HIV-1 and HTLV-1 were tested in 42 patients with a primary hepatocellular carcinoma (PHC); 19 with a malignancy of epithelial origin (EPM) and 16 with a non-epithelial malignancy (NEPM) in the Gizan Area of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Antibodies to human T-cell leukemia virus type 1 in patients with malignancies in the Gizan area of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |