- Research Article
- 10.1016/j.ajhg.2026.03.001
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.
- Apr 01, 2026
- American journal of human genetics
- Lama Alabdi + 35 more +35
Publications from 2021 to 2026
Showing 10 of 142 papers
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility.
Cost Analysis of Individualized Parenteral Nutrition Bags in a Saudi Tertiary-Care Hospital: A Retrospective Cohort Study and Implications for Cost-Effective Clinical Practice.
Background: Parenteral nutrition (PN) is a life-sustaining therapy essential for patients who are unable to meet their nutritional needs enterally. However, individualized PN formulations impose substantial economic burdens on healthcare systems. This study aims to quantify the cost of individualized PN bags across different patient populations and identify key cost drivers to inform cost-effective clinical practice and policy development. Methods: A retrospective cohort study was conducted at King Fahad Medical City, Riyadh, Saudi Arabia, analyzing 900 unique patient-specific PN orders between February 2023 and August 2023. Patients were stratified into three groups: adults (≥18 years), pediatrics (1 month to 17 years), and neonates (<1 month), with 300 unique patients per group. The cost assessment included macronutrients, micronutrients, consumables, equipment, and personnel time, all measured using a standardized work sampling methodology. Descriptive statistics characterized demographic and clinical profiles. One-way ANOVA was used to compare costs across groups, and multivariate linear regression identified significant cost predictors, with log-transformation applied to address the skewness in the cost data. Results: Mean cost per PN bag varied significantly among patient groups (ANOVA, p < 0.001): adults 517.1 ± 274 SAR, pediatrics 383.2 ± 86.75 SAR, and neonates 243.14 ± 98 SAR. We found that PN volume, lipid dose, and the number of additives were the primary modifiable drivers of PN cost. Multivariate regression analysis identified PN volume (β = 0.182, p < 0.001), lipid dose (β = 0.145, p = 0.002), and number of additives (β = 0.098, p = 0.028) as significant predictors of cost, explaining 91.2% of the cost variance (R2 = 0.912). Consumables contributed 18-22% of total costs across groups. Pediatric patients demonstrated markedly longer therapy duration (median 98 days, IQR 65-142) compared to adults (median 18 days, IQR 8-35) and neonates (median 24 days, IQR 12-42). Conclusions: This study provides the first stratified, real-world cost benchmarks for individualized PN in a Saudi tertiary-care setting and quantifies actionable cost drivers. Actionable implications include standardizing stable-patient procedures, implementing pharmacist-led appropriateness screening, and earlier transition to enteral nutrition to reduce costs while maintaining quality of care. Future research should evaluate the cost-effectiveness of standardized versus individualized formulations and investigate the relationship between cost variations and clinical outcomes.
Read moreA Multifaceted Microorganism Klebsiella And Its Culture-Independent Real-Time PCR Based Detection and Enumeration: ‘An Emerging Threats’ in Potable Water
The altered worldwide surroundings and changed microbial population has sternly declined the worth of water quality and executed amplified health risks on human beings due to absence of safe and unspoiled water. Klebsiella is one of the fecal coliform bacteria of family Enterobacteriaceae. It is an opportunistic pathogen which previously used as an indicator for microbial water pollution along with fecal coliforms namely Escherichia coli, Citrobacter, and Enterobacter, but is now known to cause numerous diseases in human beings. In this study we collected 30 samples of potable water and confirmed the existence of Klebsiella using the conserved sequence of mdh gene with the application of SYBR green based real-time PCR, which demonstrated very high specificity and stringency in detection approach. The Klebsiella levels in potable water at sites: A-J targeting mdh gene were 4760± 184.68, ND (not detected), ND, ND, 1.52 x102± 4.51, 5.66 x102 ±16.92, 5.82 x102 ±18.79, 1.94 x103± 64.80, 2.56 x103± 89.08 and 3.72 x103± 148.06 CFU/100 ml, (p<0.05) respectively. This assay could be applied in the detection and regular monitoring of potable water to check waterborne diseases and Klebsiella caused outbreaks.
Read moreEnhancing detection of low‑abundance metabolites in proton NMR through band‑selective suppression and presaturation
Metabolomics provides powerful means to analyze metabolite profiles in biological samples, enabling insights into biochemical changes under genetic, environmental, or pathological conditions. Nuclear Magnetic Resonance (NMR) spectroscopy is central to metabolomics, but its utility is often constrained by the strong and overlapping resonances of abundant components, such as sugars in plant‑ and food‑derived materials, which obscure signals of lower‑abundance metabolites. Here, we introduce a modified NMR acquisition method that increases sensitivity and specificity by selectively suppressing dominant signals, while enhancing weaker metabolite signals across the spectrum. The method integrates water presaturation with excitation sculpting (ES), yielding a robust 1D presat‑1H‑ES pulse sequence. Validation on a range of sugar-rich samples demonstrated 2–fourfold signal enhancement for low‑abundance metabolites compared with conventional 1H‑ES. Multivariate analyses show the method improves reproducibility and discrimination, enabling detection and comparison of low‑abundance metabolites not accessible with conventional approaches’. Beyond sugar‑rich systems, the method is broadly applicable to other spectral regions where dominant metabolite classes obscure lower‑concentration compounds, including primary metabolites and structurally diverse natural products. Overall, the 1D presat‑1H‑ES significantly enhances resolution and sensitivity of NMR‑based metabolomics, shortens analysis time, and supports more precise profiling for both fundamental studies and translational applications in metabolomics and natural‑products discovery.Graphical Supplementary InformationThe online version contains supplementary material available at 10.1007/s13659-025-00570-3.
Read morePost-translocation monitoring of an Egyptian Spiny-tailed Lizard, <i>Uromastyx aegyptia</i> (Forskål 1775), population displaced by a global giga-project
Infrastructure development programs and giga-projects (massive development initiatives) on the ArabianPeninsula are implementing large-scale faunal translocation efforts to promote nature recovery. Consequently, manyspecies that have been locally extirpated are being restored. However, extant species also can be subject to translocationswhen populations are threatened by infrastructure development. Such is the case with the vulnerable Egyptian SpinytailedLizard (Uromastyx aegyptia) population in the boundary of the NEOM giga-project spanning 26,500 km2 inthe Kingdom of Saudi Arabia (KSA). Surveys were conducted to quantify Egyptian Spiny-tailed Lizard distributionand home range overlap within the infrastructure development footprint. Individual animals detected within thatfootprint were then captured and released in a reserve outside the path of construction. Post-release monitoring iscritical to promote establishment of populations of translocated animals. We herein present a novel method of activeburrow counts, measured over time, as a proxy for monitoring trends in population size of translocated lizards. Weconducted ground surveys of the translocation site during the hot season to achieve a complete count of lizard burrowswithin a 5.95 km2 fenced release area within NEOM’s Mneifa Wildlife Reserve (MWR). We found that 74% ofthe 244 burrows that we detected were active and made 31 direct observations of adult animals. Thus, we detectedstrong evidence of an established population one year after translocation. The active-burrow count system that wedeveloped is not unique to burrowing lizards and is suitable for all subterranean species of conservation concern. Noveltechniques such as this will be essential to quantifying the establishment of post-translocation populations of species ofconservation concern throughout the Arabian Peninsula and beyond.
Read moreImpact of Central Incisor Attachments on the Smile Perception of Laypeople
Objective To determine how different attachments to the maxillary central incisors during clear aligner treatment influence the esthetic perception of smiles among laypeople. Materials and Methods A total of 179 participants were included in a cross‐sectional visual interview survey using manipulated photographs featuring different types of attachments: no attachment/control (CR), conventional rectangular horizontal (HRA), conventional rectangular vertical (VRA), optimized extrusion (OEA), and optimized root CR (ORCA). The participants rated these images using a digital visual analog scale (VAS). The differences in esthetic ratings were evaluated based on attachment type, sex, and age. Results The CR photograph received the highest esthetic rating, with a mean (standard deviation) score of 97.201 (6.2803); significant differences were observed between the CR and all attachment types ( p < 0.05). The VRA attachment was least favored, with a mean score of 46.4022 (21.3227). The optimized attachments generally scored higher than the conventional attachments. Sex‐based analysis revealed that female evaluators rated photographs of optimized attachments and VRA higher than male evaluators. Age did not significantly affect these results. Conclusion Attachments associated with clear‐aligner treatment decreased the smile’s overall esthetic appeal, as perceived by laypeople. Overall, conventional rectangular attachments negatively affected smile esthetics more than optimized attachments, possibly due to the inherently smaller size of the latter. Female evaluators tolerated the effects of attachment on smile esthetics better than their male counterparts. Future research should explore the effects of different attachment configurations on smiling esthetics.
Read moreImpact of SAAC accreditation on laboratories in Saudi Arabia according to ISO/IEC 17025:2017
This study evaluates the impact of Saudi Accreditation Center (SAAC) accreditation on laboratories in Saudi Arabia according to the ISO/IEC 17025:2017 standard by analysing nonconformities observed in 44 laboratories, namely, 7 calibration laboratories and 37 testing laboratories. Each laboratory was assessed by comparing nonconformities identified during initial versus periodic assessments, providing insights into the impact of accreditation on the quality of the laboratory system. Statistical analysis was conducted using descriptive statistics, paired t tests, and effect size calculations to evaluate pre- and postaccreditation nonconformities. The results revealed a significant reduction in nonconformities for both laboratory types following accreditation. The calibration laboratories exhibited a 46% reduction in nonconformities, while the test laboratories demonstrated a 41% reduction. These findings affirm that SAAC accreditation significantly improves laboratory compliance, reduces nonconformities and enhances quality and reliability. The study concludes that SAAC accreditation plays a pivotal role in increasing operational excellence in laboratories across Saudi Arabia, supporting quality infrastructure and regulatory compliance.
Read moreEE708 The Five-Year Budget Impact of Introducing Semaglutide 2.4 mg for Obesity Management in Saudi Arabia: A Real-World Patient Flow and Complication-Driven Model
Artificial intelligence-driven algorithmic trading: Analyzing its impact on stock market volatility in emerging vs. developed economies
EE181 Cost of Illness Study: Cushing's Syndrome in the Kingdom of Saudi Arabia