Population record
· 47 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Population | “Only 13 cases of IL2RA deficiency have been reported worldwide since its first description in 1997, and experience with allogeneic hematopoietic stem cell transplantation (HSCT) for this condition remains very limited.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In this study, we identified a founder variant in GDF2 that potentially causes semidominant PAH in a cohort of 13 patients ranging in age from pediatric to middle-aged adults.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Identification and characterization of 13 gene families encoding enzymes involved in flavonoid biosynthesis in barley and their roles under abiotic stress.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In 13 cases, the underlying disease was not specified.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: In total, 13 patients (25%) exhibited novel UL97, UL54, and UL56 mutations.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We present results detailing operational profiles for each of the 13 participants, including whether their healthcare systems are centralized (national) or decentralized (regional), project start date, funding, information technology (IT) infrastructure, and the extent to which participants have implemented a data-sharing mandate.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We in this study investigated 22 SNPs in 13 cytokine genes of SSc patients, and their association with disease susceptibility.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “By a double normalizing with two housekeeping genes (Actin and GAPDH), we show that, treatment with 10 μM of anethole alters (more than two-fold) the expression of 13 genes involved in the control of the cell cycle (8 were up regulated and 5 were down regulated) and 7 genes involved in the regulation of apoptosis (4 were up regulated and 3 downregulated by anethole).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: Of the 136 kidney biopsy samples classified as AAV with renal involvement, histopathologic features of RMA were present in 13 cases.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Thirty-six human samples contain 13 non-long COVID individuals' samples and 23 long COVID individuals' samples, considered the first direction analysis.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “A significant increase (P < 0.05) in the mRNA expression of TNF-α, IL-1 β, and IL6 with an insignificant decrease in placental bed IL-1RA, IL-8, IL-10, and IL-13 was observed in creta cases compared to the control ones.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “NaS1, a member of solute carrier 13 family and divalent anion/sodium symporter family, functions as a Na+-sulfate cotransporter, facilitating sulfate (re)absorption across renal proximal tubule and small intestine epithelia.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: In total, 688 studies were screened; 13 retrospective and one prospective cohort studies were included, encompassing 2294 participants.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Twenty-one patients with BCKDK mutations were included from 13 families.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Regarding causes of death, transplant-related mortality was recorded in only 2 of 13 expired patients (15.4%); both succumbed to sepsis.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we present 13 individuals from 8 families who harbor rare loss-of-function variants in THUMPD1.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: The presenting phenotypes, long-term outcomes, and treatment responses were evaluated prospectively in 15 CARMIL2-deficient patients, including 13 novel cases.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “The PRES data of 13 patients from our center were combined with those of 217 cases from the PubMed, Scopus, and Web of Science databases.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “To address this issue, we compared performance in two tasks of 13 epilepsy patients, who had undergone a temporal lobectomy, and 15 healthy controls.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: This retrospective study included 13 patients (15 ears) implanted with middle ear implants with different methods of floating mass transducer attachment.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “At least 13 genetically confirmed patients have been reported to date.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: A total of 10 studies (nine case reports and one case series) comprising 124 dental implants placed in 13 PLS patients were included.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “RESULTS: We identified 13 individuals with heterozygous likely pathogenic variants in ARFGEF1.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: We reviewed the clinical and pathological characteristics and analyzed the phenotypic variability of all 13 patients that have SDHB p.R90X mutation-associated PPGL.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS AND PARTICIPANTS: Sodium (Na+), Potassium (K+), glutathione (GSH), glutathione-s-transferase (GST), Creatine kinase (CK), lactate dehydrogenase (LDH), Coenzyme Q10, and melatonin (MLTN) were evaluated in 13 participants with ASD and 24 age-matched healthy controls.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “People reporting any one of: injecting in public places, injection site skin and soft tissue infection or hospital contact accounted for 12/13 MRSA positive cases (sensitivity 92.3%; specificity 51.5%).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “At MRE or during follow-up, 13 patients (19%) met definition of FF and had significantly higher liver stiffness compared to patients without FF (5.1 [IQR: 4.3 to 6.3] vs 4.2 [IQR: 3.7 to 4.7] kPa, p = 0.01).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We found biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile-onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “STUDY DESIGN AND METHODS: In this planned interim analysis of a prospective, multinational Phase III study (NCT02267226), 13 patients with afibrinogenemia (≥12 years) received fibrinogen concentrate (FIBRYGA, Octapharma AG).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here, we describe mutations in genes encoding 4 components of the outer rings of the NPC, namely NUP107, NUP85, NUP133, and NUP160, in 13 families with SRNS.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: This was an open-label, multicentre, non-controlled surgery trial aimed at assessing peri- and postoperative efficacy and safety of nonacog beta pegol in 13 previously treated patients with haemophilia B.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “All 13 subjects with pituitary malformations manifested hypopituitarism, conferring predictive values of 100% (positive) and 34% (negative).” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Aetiologies were ductal origin of distal PA in 13 patients and iatrogenic in 7 patients.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Microarray-based sequencing of mtDNA was performed on 13 AHM patients confirmed as carrying the ITPA 94C>A mutation causing low ITPase activity, and 4 AHM patients with wildtype ITPA.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: We studied the clinical features of 13 children with PC1/3 deficiency and performed sequence analysis of PCSK1.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “A delay in eye opening was noticed in the treated rats in group 1 on PND 13 compared with the control group and group 2.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “In this study, 13 patients with HH were identified through neurology and genetic clinics.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Here we report on 13 patients from seven unrelated families from the Arabian Peninsula.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Graft-versus-host disease (GVHD) prophylaxis was cyclosporin A (CsA) in 13 patients and CsA plus methotrexate in 6 patients.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “METHODS: We prospectively studied the frequency, type, and severity of adverse reactions in 104 intravenous immunoglobulin infusions (IntraglobinTMF) given to 13 patients suffering from several immunodeficiency and autoimmune diseases over 15 months in King Hussein Medical Center.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “To date the basis of C1q deficiencies from 13 families have been studied at the genetic level.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Eight of the 13 patients (Group 1) engrafted and have a median age of 13 years (range 5-15 years).” | 0.80 | saudi_context_rules_v1 |