65 research outputs found
Molecular Genetic Basis of Recessively Inherited Retinal Dystrophies in the Saudi Population
No full textInherited retinal dystrophies (IRD) are a remarkably genetically and phenotypically heterogeneous group of inherited eye diseases, with over 190 causative genes identified to date. In the highly consanguineous Saudi population, autosomal recessive forms of IRD are thought to account for the overwhelming majority of cases. Consanguinity is known to increase the frequency of recessive disorders since it increases the coefficient of inbreeding, which is a measure of the percentage of the genome that is identical by descent. Homozygosity mapping, targeted candidate gene analysis and whole exome sequencing were used to identify the causes of IRD in the Saudi population. Retinitis pigmentosa (RP) is the most common form of IRD, and mutations in the RP1 gene cause both recessive and dominant RP. Mutations in RP1 were found to be a common cause of recessive RP in the Saudi population. Novel and previously identified homozygous mutations in the KCNV2 gene were identified in a cohort of patients with a distinct recessive retinal disorder, ‘cone dystrophy with supranormal rod response,’ demonstrating phenotype/genotype correlation. In addition, a founder homozygous CABP4 mutation was identified in four consanguineous Saudi families with clinical features including congenital nystagmus, stable low vision, photophobia and a normal or near-normal fundus appearance, and no symptom of night blindness. Causative homozygous mutations were also found in the IRD genes RBP3, RDH12, CRB1, BBS4, CNGA3, CNGB1, EYS, RLBP1, ABCA4 and PCDH12 in Saudi patients. Four novel candidate genes for retinal degeneration were identified in this study. Potentially pathogenic homozygous variants were identified in EMC1 (c.G430A, p.A144T), KIAA1549 (c.2399_2400insAA, p.T800fs809X), GPR125 (c.C2504G, p.S835C) and DHX29 (c.C2738T, p.A913V). In the majority of cases (31 families) the genetic cause of IRD was identified, demonstrating the power of homozygosity mapping and whole exome sequencing. In four families (3 multiplex and 1 simplex case), however, no potentially pathogenic homozygous variants were identified, indicating that other novel loci and genes may be implicated as causing IRD in the Saudi population
Determinants of load capacity factor in an emerging economy: The role of green energy consumption and technological innovation
No full textBrazil’s ability to provide safe and dependable resources that can assist the nation achieve its goal of becoming carbon neutral by 2060 will have a significant impact on the nation’s sustainable development. Therefore, this study performs ARDL and frequency domain causality tests to evaluate the effect of disintegrated energy, technological innovation and economic growth on load capacity factor in South Africa between 1990 and 2018. The ARDL bounds test affirms a long-run interrelationship between the selected indicators in South Africa. The long-run elasticities show that economic expansion and nonrenewable energy deteriorate ecological quality, while green energy and technological innovation significantly boost ecological quality. The results of the frequency causality show that in the long-term, renewable energy, economic growth, technological innovation and nonrenewable energy Granger cause load capacity factor suggesting that the regressors can forecast the environmental quality in South Africa. Overall, these results demonstrate the significance of renewable energy in the fight against ecological deterioration. According to the aforementioned findings, South Africa’s environmental damage may be greatly reduced by renewable energy. Copyright © 2022 Liu, Olanrewaju, Agyekum, El-Naggar, Alrashed and Kamel.Ministry of Education in Saudi ArabiaPrince Sattam bin Abdulaziz University, PSAU, (IF-PSAU-2021/01/18921)Funding text 1: This research is funded by Prince Sattam Bin Abdulaziz University, grant number IF- PSAU-2021/01/18921.Funding text 2: The authors extend their appreciation to the Deputyship for Research & Innovation, Ministry of Education in Saudi Arabia, for funding this research work through the project number (IF-PSAU-2021/01/18921)
5-Fluorouracil Inhibits Bacterial Growth and Reduces Biofilm in Addition to Having Synergetic Effects with Gentamicin Against Pseudomonas aeruginosa
No full textPseudomonas aeruginosa is a multidrug-resistant pathogen known for chronic infections, mainly due to biofilm formation. This study aimed to explore the potential repurposing of 5-fluorouracil (5-FU), an anticancer drug, to treat P. aeruginosa infections. Firstly, we investigated the inhibitory effects of 5-FU on bacterial growth using the microdilution method. Secondly, the impact of 5-FU on biofilm formation and disassembly was assessed via biofilm biomass measurements with the crystal violet staining method and confocal microscopy analyses. Lastly, the potential synergy between 5-FU and the antibiotics gentamicin and meropenem was evaluated using a checkerboard assay. Results revealed that 5-FU inhibited bacterial growth in a dose-dependent manner, with 100% inhibition observed at concentrations of 25 µg/mL and higher. Also, 70% and 100% reductions in biofilm biomass were demonstrated at concentrations of 12 and 100 µg/mL, respectively. Controversy, these higher concentrations unexpectedly increased biofilm biomass in pre-formed biofilms. Synergistic interactions were observed between 5-FU and gentamicin in both growth inhibition (FICI 0.31) and biofilm inhibition (ZIP 14.1), while no synergy was found with meropenem. These findings highlight the potential of 5-FU as an adjunctive therapy for P. aeruginosa infections, especially in combination with gentamicin. However, further research is required to address 5-FU limitations against mature biofilms
Scintillation light detection in the 6-m drift-length ProtoDUNE Dual Phase liquid argon TPC
No full textAbstract
DUNE is a dual-site experiment for long-baseline neutrino oscillation studies, neutrino astrophysics and nucleon decay searches. ProtoDUNE Dual Phase (DP) is a 6
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liquid argon time-projection-chamber (LArTPC) that recorded cosmic-muon data at the CERN Neutrino Platform in 2019–2020 as a prototype of the DUNE Far Detector. Charged particles propagating through the LArTPC produce ionization and scintillation light. The scintillation light signal in these detectors can provide the trigger for non-beam events. In addition, it adds precise timing capabilities and improves the calorimetry measurements. In ProtoDUNE-DP, scintillation and electroluminescence light produced by cosmic muons in the LArTPC is collected by photomultiplier tubes placed up to 7 m away from the ionizing track. In this paper, the ProtoDUNE-DP photon detection system performance is evaluated with a particular focus on the different wavelength shifters, such as PEN and TPB, and the use of Xe-doped LAr, considering its future use in giant LArTPCs. The scintillation light production and propagation processes are analyzed and a comparison of simulation to data is performed, improving understanding of the liquid argon properties
Synthesis of carbon microspheres via hydrothermal carbonization of Sabal palms (<em>Sabal palmetto</em>) biomass for adsorption of methylene blue
No full text\ua9 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. In this paper, we report new findings on the synthesis of carbon microspheres from a biomass precursor (Sabal palmetto) using one-step hydrothermal carbonization (HTC) process. The carbonization process involved predominantly dehydration process with partial occurrence of decarboxylation. The microspheres were analyzed using elemental analysis and scanning electron microscopy (SEM). The produced microspheres were applied as adsorbents for sorption of an industrial dye (methylene blue) in which the data showed good fitting to the Langmuir model. The sub-micron-sized microspheres exhibited interesting textural characteristics—relatively low surface areas and porosities with presence of oxgenated functional groups (total = 0.4 to 0.5 mmol/g) on the surface. The work presented in this contribution involves themes on sustainable usage of resources (i.e., biomass), production of useful industrial microparticles, and direct application in wastewater purification
Analysis of synonymous codon usage bias of Lassa virus
No full textLassa virus genome consists of two single-stranded, negative-sense RNA segments that lie in the genus Arenavirus. The disease associated with the Lassa virus is distributed all over the world, with approximately 3,000,000–5,000,000 infections diagnosed annually in West Africa. It shows high health risks to the human being. Previous research used the evolutionary time scale and adaptive evolution to describe the Lassa virus population pattern. However, it is still unclear how the Lassa virus takes advantage of synonymous codons. In this study, we analyzed the codon usage bias in 162 Lassa virus strains by calculating and comparing the nucleotide contents, effective number of codons (ENC), codon adaptation index (CAI), relative synonymous codon usage (RSCU), and others. The results disclosed that LASV strains are rich in A/T. The average ENC value indicated a low codon usage bias in LASVs. The ENC-plot, neutrality plot and parity rule 2 plot demonstrated that, besides mutational pressure, other factors like natural selection also contributed to codon usage bias. This study is significant because it described the pattern of codon usage in the genomes of the Lassa viruses and provided the information needed for a fundamental evolutionary study of them
Usability Evaluation of Optimized Single-Pointer Arabic Keyboards Using Eye Tracking
No full textThis paper presents the design and usability evaluation of an Arabic keyboard for applications that predominantly use single-pointer input device. Such applications are particularly used in mobile devices like Portable Data Assistants (PDAs) and smartphones. They are also valuable in gaze-controlled interfaces that constitute a growing mode of communication and that particularly empower people with mobility impairments. A special focus is given to the optimization of the key arrangement based on the movement time and character transition frequencies. An optimization model as well as a Simulated Annealing algorithm are presented. Then, the performance of the optimized layout is assessed showing that it outperforms the commonly used Arabic keyboard in terms of the estimated typing speed. However, the main limitation that the new layout might face is that a new arrangement of keys may not be adopted by users, even if the currently used layouts are not optimum. Therefore, a usability evaluation of the optimized layouts was conducted using eye-tracking and task-based testing involving the end-users and considering both objective and subjective measures of usability. Implications for the design are also discussed
Impact of Natural and Synthetic Antioxidants on the Stability of High-Density Polyethylene
No full textHigh-Density Polyethylene (HDPE) plays a crucial role in the life of every human being due to its properties such as chemical resistance, light weight, and ease of forming, among others. Its usage ranges from bottles for beverages and other liquids, to pipes, wire and cable insulation, and prosthetics. As it undergoes several thermal cycles during its life cycle, it is essential to maintain its qualities, even after undergoing thermal and thermo-oxidative degradation. Here, various dosages of synthetic (Irganox 1010) and natural (vitamin E) antioxidants are added to HDPE formulations to study their impacts on HDPE stability. The antioxidants are mixed physically with HDPE before the mixtures are melt-mixed three times to represent their life cycles. Samples are taken after each time and used to analyze the molecular weight distribution, rheological behavior, mechanical properties, and thermal stability. The results show that vitamin E is superior to Irganox 1010 in these tests, as vitamin E performance exceeds that of Irganox 1010, even at lower doses. The only drawback of using vitamin E is the yellow color it causes, which may necessitate the addition of another additive to enhance the color stability of HDPE in color-sensitive applications
Exploring Medical Doctors’ Confidence in Artificial Intelligence: The Role of Specialty, Experience, and Perceived Job Security
No full textBackground: Artificial intelligence (AI) is increasingly integrated into healthcare, offering transformative potential across diagnostics, treatment, and clinical decision-making. As its adoption grows, understanding how medical doctors perceive and respond to AI, particularly in relation to their specialty, experience, and job security, is critical for effective implementation and acceptance. This study investigates the confidence of medical doctors in AI technologies and their role in healthcare, focusing on the impact of specialty, experience, and perceived job security. Method: A cross-sectional survey was conducted among 187 medical doctors across various specialties in Riyadh, Saudi Arabia, with a final sample of 176 participants. The survey assessed awareness, confidence, and concerns regarding AI integration into clinical practice. The survey was conducted across multiple healthcare hospitals in Riyadh, Saudi Arabia. Hospitals from both public and private sectors were included to ensure a diverse sample of healthcare professionals from different organizational structures. Results: A statistically significant association was found between specialty and confidence level (χ2 = 14.5, p = 0.001). Among specialists, the majority (80%) reported high confidence in AI use compared to 45% of general practitioners and 38% of surgeons. Conversely, moderate confidence was most common among surgeons (46%), followed by general practitioners (35%) and specialists (13%). Additionally, participants with 11–20 years of experience reported the highest confidence, whereas those aged 55+ years showed the lowest perceived impact of AI on patient outcomes. Multivariate regression analysis identified specialty as the strongest predictor of AI confidence, with specialists being four times more likely to express high confidence in AI use (β = 0.89, p = 0.001) compared to general practitioners. Job displacement concerns negatively influenced confidence in AI, while age and years of experience had less impactful effects. Conclusions: The study concludes that addressing barriers to AI adoption will be crucial for enhancing its integration into healthcare and improving patient care. These findings underscore the importance of specialty-specific training and highlight the need for targeted educational programs, particularly for lower confidence groups such as general practitioners and surgeons. Lower confidence levels in these groups may result in a hesitant or incorrect use of AI tools, potentially compromising patient safety. Therefore, equipping all healthcare professionals with the necessary knowledge and confidence is essential for the safe and effective use of AI in clinical practice
Association Between Rhesus and ABO Blood Group Types and Their Impact on Clinical Outcomes in Critically Ill Patients with COVID-19: A Multi-Center Investigation
No full textKhalid Al Sulaiman,1– 5 Ohoud Aljuhani,6 Ghazwa B Korayem,7 Mashael AlFaifi,8 Abdullah F Alharthi,9 Asma Alshehri,1,10 Mashael S Alaboud,11 Ibtesam Saeed Alzahrani,2 Batoul Abdullah Alenazi,2 Fai Farhan Alanazi,2 Hessah Alrashidi,2 Sara Mohammad Alotaibi,2 Khuld Aloufi,1,3 Rawan M Alotaibi,2 Mai Alalawi,11 Ali Faris Altebainawi,12,13 Mohammad Y Alshami,14 Abeer A Alenazi,10 Ghaida A Abalkhail,2 Renad Bin Naheet,1 Rawan Mohammed Abu Alnasr,15 Mohammed Alrashed,1– 3 Faisal E Al Mutairi,1 Khalid J Albarqi,2 Rawan S Alshammari,13 Norah M Abunayyan,13 Wadha J Aldhmadi,13 Ramesh Vishwakarma16 1Pharmaceutical Care Department, King Abdulaziz Medical City, Riyadh, Saudi Arabia; 2College of Pharmacy, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; 3King Abdullah International Medical Research Center-King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard – Health Affairs, Riyadh, Saudi Arabia; 4Saudi Critical Care Pharmacy Research (SCAPE) Platform, Riyadh, Saudi Arabia; 5Saudi Society for Multidisciplinary Research Development and Education (SCAPE Society), Riyadh, Saudi Arabia; 6Department of Pharmacy Practice, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia; 7Department of Pharmacy Practice, College of Pharmacy, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia; 8Pharmaceutical Care Department, King Saud Medical City, Riyadh, Saudi Arabia; 9Department of Clinical Pharmacy, College of Pharmacy, Shaqra University, Al-Dawadmi Campus, Al-D, Al-Dawadmi, 11961 Saudi Arabia; 10Pharmaceutical Care Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 11Pharmaceutical Care Department, King Abdulaziz Medical City, Jeddah, Saudi Arabia; 12Pharmaceutical Care Services, King Salman Specialist Hospital, Hail Health Cluster, Hail, Saudi Arabia; 13Department of Clinical Pharmacy, College of Pharmacy, University of Hail, Hail, Saudi Arabia; 14Pharmaceutical Care Services, King Abdulaziz Hospital, Ministry of National Guard Health Affairs, Al-Ahsa, Saudi Arabia; 15Pharmaceutical Care Department, King Fahad Medical City, Riyadh, Saudi Arabia; 16Norwich Medical School, University of East Anglia, Norwich, UKCorrespondence: Khalid Al Sulaiman, King Abdulaziz Medical City (KAMC) - Ministry of National Guard Health Affairs (MNGHA), King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, PO Box 22490, Riyadh, 11426, Saudi Arabia, Email [email protected] Abdullah F Alharthi, Department of Clinical Pharmacy, College of Pharmacy, Shaqra University, Al-Dawadmi Campus, Al-Dawadmi, 11961, Saudi Arabia, Email [email protected]: There is increasing evidence suggesting that ABO blood type may play a role in the immunopathogenesis of COVID-19 infection. In addition to ABO blood type, the Rhesus (Rh) factor has also been implicated in various disease processes. Therefore, our study aimed to assess the association between both ABO and Rh blood types in critically ill patients with COVID-19 and their clinical outcomes.Methods: A multicenter retrospective cohort study conducted in Saudi Arabia between March 1, 2020, and July 31, 2021, involving adult COVID-19 patients admitted to Intensive Care Units, aimed to explore potential associations between rhesus blood group types (Positive versus Negative) and clinical outcomes. The primary endpoint assessed was the hospital length of stay (LOS). Other endpoints were considered secondary.Results: After propensity score matching (3:1 ratio), 212 patients were included in the final analysis. The hospital length of stay was longer in a negative Rh blood group compared with patients in the Rh-positive group (beta coefficient 0.26 (0.02, 0.51), p = 0.03). However, neither 30-day mortality (HR 0.28; 95% CI 0.47, 1.25, p = 0.28) nor in-hospital mortality (HR 0.74; 95% CI 0.48, 1.14, p = 0.17) reached statistical significance. Additionally, among the different ABO types, the A+ blood group exhibited a higher proportion of thrombosis/infarction and in-hospital mortality (28.1% and 31.2%, respectively).Conclusion: This study highlights the potential impact of blood group type on the prognosis of critically ill patients with COVID-19. It has been observed that patients with a negative Rh blood group type tend to have a longer hospital stay, while their mortality rates and complications during ICU stay are similar to the patients with a Rh-positive group.Keywords: rhesus blood group, Blood group, ABO, length of stay, intensive care units, Critically ill, COVID-19, SARS-CoV-2, acute kidney injury, mortality, MV duratio
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