The central nervous system uses muscle co-activation for body coordination, effector movement control, and joint stabilization. However, co-activation increases compression and shear stresses on the joints. Lifting activity is one of the leading causes of work-related musculoskeletal problems worldwide, and it has been shown that when the risk level rises, lifting enhances trunk muscle co-activation at the L5/S1 level. This study aims to investigate the co-activation of lower limb muscles during liftings at various risk levels and lifting types (one-person and vs. two-person team lifting), to understand how the central nervous system governs lower limb rigidity during these tasks. The surface electromyographic signal of thirteen healthy volunteers (seven males and six females, age range: 29–48 years) was obtained over the trunk and right lower limb muscles while lifting in the sagittal plane. Then co-activation was computed according to different approaches: global, full leg, flexor, extensor, and rostro-caudal. The statistical analysis revealed a significant increase in the risk level and a decrease in the two-person on the mean and/or maximum of the co-activation in almost all the approaches. Overall, our findings imply that the central nervous system streamlines the motor regulation of lifting by increasing or reducing whole-limb rigidity within a distinct global, extensor, and rostro-caudal co-activation scheme, depending on the risk level/lifting type. Full article

As concerns about indoor air quality increase, air purifiers and fresh air systems are increasingly being used in conjunction with air conditioners in office buildings. To study the synergistic effects of multisystem joint operation on indoor air quality, this study used a combination of experimental and simulation methods to study the indoor particulate matter with a diameter of less than 2.5 µm (PM_2.5) and carbon dioxide (CO₂) concentrations under different operation conditions. The purification time and the PM_2.5 concentration distribution under different conditions were compared with the condition in which the purifier was used alone. The results showed that the purification time required for the condition that the air conditioner runs together with the purifier was shortened by 15.2%. When the fresh air system is running together with the purifier, the purification time can be reduced by 30.4%. It was reduced by 32.6% when the three systems were operating at the same time. The PM_2.5 concentration distribution under the joint operating condition was much more even than that under the condition in which the purifier was running alone. To analyze the impact on the CO₂ distribution, the CO₂ distributions under different joint operations were compared. The results show that the fresh air system can effectively dilute CO₂ below 1000 ppm in 30 min. The air conditioner and purifier could help to mix the indoor air to provide a much more uniform indoor CO₂ distribution. Full article

In this paper, the characteristics of 40 so far described virophages—parasites of giant viruses—are given, and the similarities and differences between virophages and satellite viruses, which also, like virophages, require helper viruses for replication, are described. The replication of virophages taking place at a specific site—the viral particle factory of giant viruses—and its consequences are presented, and the defence mechanisms of virophages for giant virus hosts, as a protective action for giant virus hosts—protozoa and algae—are approximated. The defence systems of giant viruses against virophages were also presented, which are similar to the CRISPR/Cas defence system found in bacteria and in Archea. These facts, and related to the very specific biological features of virophages (specific site of replication, specific mechanisms of their defensive effects for giant virus hosts, defence systems in giant viruses against virophages), indicate that virophages, and their host giant viruses, are biological objects, forming a ‘novelty’ in biology. Full article

Camellia polyodonta flowers are rich sources of phenolics and less attention has been paid to their potential biological activity. This study aims to explore the crude extracts and resulting purified fractions (CPFP-I, II, III, and IV) through compositional analysis and antioxidant and hypolipidemic activities in vitro and in vivo. Among four fractions, CPFP-II contained the highest total phenolic content and flavonoid content, while CPFP-III exhibited the greatest total proanthocyanidin content. Among the 14 phenolic compounds, CPFP-II displayed the highest content of procyanidin B2, B4, and C1, whereas CPFP-III contained the highest amount of 1,2,3,6-tetragalloylglucose. The DPPH, ABTS, and FRAP assessments demonstrated a consistent trend: CPFP-II > CPFP-III > CPFP-I > CPFP-IV. In vivo experiments showed that that all four fractions significantly reduced lipid levels in hyperlipidemic C. elegans (p < 0.05), with CPFP-II exhibiting the most potent effect. Furthermore, CPFP-II effectively bound to bile acids and inhibited the enzymatic activity of pancreatic lipase in vitro. Consequently, CPFP-II should be prioritized as a promising fraction for further exploration and should provide substantial support for the feasibility of the C. polyodonta flower as a natural alternative. Full article

Circularly polarized electroluminescent devices are conventionally fabricated by incorporating an optically active chiral luminophore into their emission layer. Herein, we developed a circularly polarized perovskite light-emitting diode (PeLED) system with an optically inactive perovskite luminophore that can emit near-infrared circularly polarized electroluminescence (CPEL) upon application of an external magnetic field. The magnitude of the magnetic CPEL (g_MCPEL) was in the order of 10⁻³ in the near-infrared wavelength range of 771–773 nm. Although the Pb perovskite quantum dots were achiral, the rotation direction of the CPEL of the magnetic circularly polarized PeLED system was successfully reversed by switching the Faraday geometry of the applied magnetic field. The use of achiral luminophores exhibiting magnetic-field-induced CPEL represents a new approach for the development of circularly polarized electroluminescent devices. Full article

Hypertrophic cardiomyopathy (HCM) is a heart condition characterized by cellular and metabolic dysfunction, with mitochondrial dysfunction playing a crucial role. Although the direct relationship between genetic mutations and mitochondrial dysfunction remains unclear, targeting mitochondrial dysfunction presents promising opportunities for treatment, as there are currently no effective treatments available for HCM. This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis Extension for Scoping Reviews guidelines. Searches were conducted in databases such as PubMed, Embase, and Scopus up to September 2023 using “MESH terms”. Bibliographic references from pertinent articles were also included. Hypertrophic cardiomyopathy (HCM) is influenced by ionic homeostasis, cardiac tissue remodeling, metabolic balance, genetic mutations, reactive oxygen species regulation, and mitochondrial dysfunction. The latter is a common factor regardless of the cause and is linked to intracellular calcium handling, energetic and oxidative stress, and HCM-induced hypertrophy. Hypertrophic cardiomyopathy treatments focus on symptom management and complication prevention. Targeted therapeutic approaches, such as improving mitochondrial bioenergetics, are being explored. This includes coenzyme Q and elamipretide therapies and metabolic strategies like therapeutic ketosis. Understanding the biomolecular, genetic, and mitochondrial mechanisms underlying HCM is crucial for developing new therapeutic modalities. Full article

Traditional cold alleys have the ability to adapt to hot climates with cooling and insulation, which is a traditional design method that conforms to sustainable development. Due to the limited depth of space and the adoption of mechanical ventilation in most contemporary architectural design, this passive energy-saving method is gradually being ignored. In this study, we use ventilation measurement and simulation to explore the characteristics of ventilation performance in the cold alleys of the renovation and expansion project of Shixiangyuan Garden. The research, using anemometers and thermometers for measurement, aims to explore how Shixiangyuan Garden can utilize its existing environment and improve it to adapt to local conditions, and also discusses the methods of increasing the number of air vents to improve the overall ventilation performance of the alleys, as well as the effects of form changes caused by utilizing water and plants to supplement the soft interface. Although many studies have explored the mechanisms of cold alleys in traditional architecture, few have discussed the variance of cold alley forms that could adapt to the limited depths of newly constructed buildings. This study attempts to explore the potential for this through simulation. The purpose is to find new ways to inherit the sustainable advantages of cold alleys in new projects. Full article

Meat characterized by a high marbling value is typically anticipated to display enhanced sensory attributes. This study aimed to predict the marbling scores of rib-eye, steaks sourced from the Longissimus dorsi muscle of different cattle types, namely Boran, Senga, and Sheko, by employing digital image processing and machine-learning algorithms. Marbling was analyzed using digital image processing coupled with an extreme gradient boosting (GBoost) machine learning algorithm. Meat texture was assessed using a universal texture analyzer. Sensory characteristics of beef were evaluated through quantitative descriptive analysis with a trained panel of twenty. Using selected image features from digital image processing, the marbling score was predicted with R² (prediction) = 0.83. Boran cattle had the highest fat content in sirloin and chuck cuts (12.68% and 12.40%, respectively), followed by Senga (11.59% and 11.56%) and Sheko (11.40% and 11.17%). Tenderness scores for sirloin and chuck cuts differed among the three breeds: Boran (7.06 ± 2.75 and 3.81 ± 2.24, respectively), Senga (5.54 ± 1.90 and 5.25 ± 2.47), and Sheko (5.43 ± 2.76 and 6.33 ± 2.28 Nmm). Sheko and Senga had similar sensory attributes. Marbling scores were higher in Boran (4.28 ± 1.43 and 3.68 ± 1.21) and Senga (2.88 ± 0.69 and 2.83 ± 0.98) compared to Sheko (2.73 ± 1.28 and 2.90 ± 1.52). The study achieved a remarkable milestone in developing a digital tool for predicting marbling scores of Ethiopian beef breeds. Furthermore, the relationship between quality attributes and beef marbling score has been verified. After further validation, the output of this research can be utilized in the meat industry and quality control authorities. Full article

Sending unsolicited sexts is increasingly recognised as harmful and, in some countries, constitutes a criminal offence. Recipients of unwanted/unexpected sexts often report compromised mental health, yet it is currently unknown how people deal with these sexting experiences. Using a mixed-methods approach, this study explored help-seeking behaviours following the receipt of unwanted sexts and barriers to reaching out for support in Australia, where the law currently does not recognise unsolicited sexting as a criminal offence. In total, 883 participants, Mage = 22.52 years (SD = 3.09), were recruited comprising 539 (61.2%) women, 325 (36.9%) men, and 17 (1.9%) other/non-binary. Overall, women were more likely to receive unsolicited sexts (389, 81%) than men (66, 26.2%), and ≥97.7% of respondents across genders never sought support in response to these experiences. Template thematic analysis revealed the receipt of unwanted sexts was often regarded “too trivial” to seek support for, which was captured under the theme of it’s just an image. Regarding barriers to help-seeking, three themes were generated: it’s an awkward experience to talk about, I did not realise it was a violation, I didn’t know where to go. Young Australian adults often did not seek support due to feelings of awkwardness and shame associated with receiving unwanted sexts, a lack of understanding of the violating nature of these experiences and young age, and minimal knowledge of supports. This study illustrates that community attitudes and the legal framework in Australia towards unsolicited sexting need to change to recognise this sexting variant as harmful and illegal. Full article

Construction 4.0 integrates digital technologies that increase vulnerability to cyber threats. A dedicated cyber risk assessment framework is essential for proactive risk mitigation. However, existing studies on this subject within the construction sector are scarce, with most discussions still in the preliminary stages. This study introduces a cyber risk assessment framework that integrates machine learning techniques, pioneering a data-driven approach to quantitatively assess cyber risks while considering industry-specific vulnerabilities. The framework builds on over 20 literature reviews related to construction cybersecurity and semi-structured interviews with two industry experts, ensuring both rigor and alignment with practical industrial needs. This study also addresses the challenges of data collection and proposes potential solutions, such as a standardized data collection format with preset fields that computers can automatically populate using data from construction companies. Additionally, the framework proposes dynamic machine learning models that adjust based on new data, facilitating continuous risk monitoring tailored to industry needs. Furthermore, this study explores the potential of advanced language models in cybersecurity management, positioning them as intelligent cybersecurity consultants that provide answers to security inquiries. Overall, this study develops a conceptual machine learning framework aimed at creating a robust, off-the-shelf cyber risk management system for industry practitioners. Full article

Hormone receptor-positive and HER2-negative breast cancer (HR+/HER2-BC) is the most common type with a favorable prognosis under endocrine therapy. However, it still demonstrates unpredictable progression and recurrences influenced by high tumoral diversity and microenvironmental status. To address these heterogeneous molecular characteristics of HR+/HER2-BC, we aimed to simultaneously characterize its transcriptomic landscape and genetic architecture at the same resolution. Using advanced single-cell RNA and DNA sequencing techniques together, we defined four distinct tumor subtypes. Notably, the migratory tumor subtype was closely linked to genomic alterations of EGFR, related to the tumor-promoting behavior of IL6-positive inflammatory tumor-associated fibroblast, and contributing to poor prognosis. Our study comprehensively utilizes integrated analysis to uncover the complex dynamics of this breast cancer subtype, highlighting the pivotal role of the migratory tumor subtype in influencing surrounding cells. This sheds light on potential therapeutic targets by offering enhanced insights for HR+/HER2-BC treatment. Full article

Transparent materials in contact with harmful environments such as sandstorms are exposed to surface damage. Transparent MgAl₂O₄ spinel used as protective window, lens or laser exit port, among others, is one of the materials affected by natural aggressions. The impact of sand particles can cause significant defects on the exposed surface, thus affecting its optical and mechanical behavior. The aim of this work is to improve the surface state of a spinel damaged surface by the deposition of a thin layer of SiO₂-ZrO₂. For this purpose, spinel samples obtained from different commercial powders sintered by Spark Plasma Sintering were sandblasted and further coated with a SiO₂-ZrO₂ thin layer. The coating was successfully synthesized by the sol/gel method, deposited on the sandblasted samples and then treated at 900 °C, reaching a final thickness of 250 nm. The results indicated that sandblasting significantly affects the surface of the spinel samples as well as the optical transmission, confirmed by UV-visible spectroscopy and profilometry tests. However, the deposition of a SiO₂-ZrO₂ coating modifies the UV-visible response. Thus, the optical transmission of the S25CRX12 sample presents the best transmission values of 81%, followed by the S25CRX14 sample then the S30CR sample at 550 nm wavelength. An important difference was observed between sandblasted samples and coated samples at low and high wavelengths. At low wavelengths (around 200 nm), sandblasting tends to improve significantly the transmission of spinel samples, which exhibit a low transmission in the pristine state. This phenomenon can be attributed to the healing of small superficial defects responsible for the degradation of transmission such as pores or flaws. When the initial transmission at 200 nm is high, the sandblasting worsens the transmission. Sandblasting reduces slightly the transmission values for long wavelengths due to the formation of large superficial defects like chipping by creation and propagation of lateral cracks. The coating of the sandblasted samples exhibits some healing of defects induced by sandblasting. The deposition of the SiO₂-ZrO₂ layer induces a clear increase in the optical transmission values, sometimes exceeding the initial values of the transmission in the pristine state. Full article

In this work, photoinitiation systems based on dibenzo[a,c]phenazine sensitivity to visible light were designed for their potential application in dentistry. Modification of the structure of dibenzo[a,c]phenazine consisted of introducing electron-donating and electron-withdrawing substituents and heavy atoms into position 11. The synthesized compounds are able to absorb radiation emitted by dental lamps during photoinitiation of the polymerization process. In the presence of acrylates, dibenzo[a,c]phenazines show excellent photoinitiating abilities in systems containing an electron donor or a hydrogen-atom donor as a second component. The developed systems initiate the polymerization process comparable to a commercial photoinitiator, i.e., camphorquinone. Moreover, the performed studies showed a significant shortening of the polymerization time and a reduction in the amount of light absorber. This indicates that polymeric materials are obtained at a similar rate despite a significant reduction in the concentration of the newly developed two-component photoinitiating systems. Full article

A comprehensive thermodynamic model of the marine diesel engine in combination with the operating cost assessment is used in the decision-making process regarding the selection of the most favorable slow steaming speed. The influence of the number of cylinders and sailing speed on exhaust emissions, fuel consumption and operating costs is analyzed for the case of a containership sailing on a Trans-Pacific route. The engine simulation model was used for the calculation of engine fuel consumption, NO_X and soot emissions. The operating costs and annual income were calculated through a fuel consumption correlation. The benefit of slow steaming is shown through the comparison of calculated data with the data calculated for the six-cylinder engine and the design speed of 23 knots. The highest reduction of 67.2% in CO₂ and 93.3% in NO_X emissions is achieved with the seven-cylinder engine at 15 knots, but the six-cylinder engine yields the highest increase in income per route of 6.2%. To comply with the proposed regulations for GHG emissions, the sailing speed should be reduced by at least 26%, which results in a decrease in the annual income by 24% compared to the design speed. Full article

Green city areas are crucial in mitigating the Urban Heat Island Effect (UHI). However, the cooling effect of green city areas can be influenced by the surrounding complex urban spatial environment. This study focuses on Changsha, a subtropical city in China, where 40 green city areas were screened and analyzed. The study aims to quantify the specific impact of urban spatial morphology on the cooling effect of green city areas. Through statistical correlation and regression analysis, this study focused on six urban spatial morphology indicators: building density (BD), building floor area ratio (BFR), building volume density (BVD), building evenness index (BEI), building average height (BH), and building height standard deviation (BSD). The results indicate that the cooling effect of green city areas could be influenced by urban spatial morphology. Factors such as BD, BFR, BH, and BSD were found to be significantly correlated with the cooling effect of green city areas, with BH showing the strongest influence. BD and BFR were negatively correlated, while BH and BSD were positively correlated. The range values of BD, BFR, BH, and BSD were determined to achieve the optimal conditions for the cooling effect of green city areas. Additionally, the relative position of the green city areas in the neighboring urban areas affects the cooling effect of the green city areas. The cooling effect is most pronounced in the urban area situated to the south of the green city areas. These findings provide a solid foundation for urban planning around green city spaces and offer scientifically sound evidence for mitigating the UHI. Full article

Switzerland, a wealthy country, has a cutting-edge healthcare system, yet per capita, it emits over one ton of CO₂, ranking among the world’s most polluting healthcare systems. To estimate the carbon footprint of the healthcare system of Geneva’s canton, we collected raw data on the activities of its stakeholders. Our analysis shows that when excluding medicines and medical devices, hospitals are the main greenhouse gas emitter by far, accounting for 48% of the healthcare system’s emission, followed by nursing homes (20%), private practice (18%), medical analysis laboratories (7%), dispensing pharmacies (4%), the homecare institution (3%), and the ambulance services (<1%). The most prominent emission items globally are medicines and medical devices by far, accounting for 59%, followed by building operation (19%), transport (11%), and catering (4%), among others. To actively reduce Geneva’s healthcare carbon emissions, we propose direct and indirect measures, either with an immediate impact or implementing systemic changes concerning medicine prescription, building heating and cooling, low-carbon means of transport, less meaty diets, and health prevention. This study, the first of its kind in Switzerland, deciphers where most of the greenhouse gas emissions arise and proposes action levers to pave the way for ambitious emission reduction policies. We also invite health authorities to engage pharmaceutical and medical suppliers in addressing their own responsibilities, notably through the adaptation of procurement processes and requirements. Full article

Epidemiological results on the link between chronic stress and cancer initiation have been inconsistent. This study examined the relation between chronic biological stress, indicated as hair cortisol (HairF) and hair cortisone (HairE), and cancer incidence, adjusting for metabolic syndrome (MetS) components. We analyzed HairF and HairE samples from 6341 participants from the population-based cohort Lifelines in 2014. A linkage with the Dutch Nationwide Pathology Databank (Palga) provided the cancer incidence from 2015 to 2021. The association between dichotomized HairF and log-transformed HairE (LogHairE) and cancer incidence was estimated using Cox regression. MetS components were evaluated as confounders or moderators. Of the 2776 participants with known HairF levels and no cancer history, 238 developed cancer. The HairF level did not predict cancer incidence (HR: 0.993, 95%CI: 0.740–1.333). No confounders or moderators were identified. Among the 4699 participants with known HairE levels and no cancer history, 408 developed cancer. There was no association between LogHairE and cancer incidence (HR: 1.113, 95%CI: 0.738–1.678). When including age as a confounder and gender as a moderator, LogHairE was statistically significantly associated with cancer incidence (HR: 6.403, 95%CI: 1.110–36.92). In a population-based cohort, chronic biological stress, measured by HairE, was associated with cancer incidence, after controlling for age and gender. Full article

Statins function beyond regulating cholesterol and, when administered systemically, can promote wound healing. However, studies have yet to explore the topical use of statins for wound healing. The present study demonstrated the topical administration of SIM and aimed to formulate, evaluate, and optimize Simvastatin (SIM)-encapsulated liposome gel carrier systems to facilitate successful topical wound healing. Liposomes containing SIM were formulated and optimized via a response surface methodology (RSM) using the thin-film hydration method. The effects of formulation variables, including the 1,2-dioleoyloxy-3-trimethylammoniumpropan (DOTAP) concentration, Span 80 concentration, and cholesterol concentration, on zeta potential (mV), entrapment efficacy (%), and particle size (nm) were studied. The optimized liposome formulation (F-07) exhibited a zeta potential value of 16.56 ± 2.51 mV, revealing robust stability and a high SIM encapsulation efficiency of 95.6 ± 4.2%, whereas its particle size of 190.3 ± 3.3 nm confirmed its stability and structural integrity. The optimized liposome gel demonstrated pseudoplastic flow behavior. This property is advantageous in topical drug delivery systems because of its ease of application, improved spreadability, and enhanced penetration, demonstrating prolonged SIM release. The assessment of the wound healing efficacy of the optimized liposomal gel formulation demonstrated a substantial decrease in wound size in mice on the sixteenth day post-wounding. These findings suggest that the use of liposomal gels is a potential drug delivery strategy for incorporating SIM, thereby augmenting its effectiveness in promoting wound healing. Full article

The fretting wear behaviors of silicone rubber under dry friction and different lubrication conditions are studied experimentally. Water, engine oil, dimethyl silicone oil (DSO), and dimethyl silicone oil doped with graphene oxide (DSO/GO) are selected as lubricants. Under the liquid lubrication conditions, the silicone rubber samples are always immersed in the same volume of lubricant. The contact model of a 440C steel ball and silicone rubber sample is the sphere-on-flat contact. The reciprocating fretting wear experiments are carried out using the reciprocating friction wear tester. A scanning electron microscope and three-dimensional white-light interference profilometer are used to detect the surface wear morphology and obtain the wear volume, respectively. The influences of normal force, lubrication condition, and displacement amplitude on fretting wear behavior are discussed. The fretting wear performances of silicone rubber under different fretting states and lubrication conditions are compared. The results show that for a small normal force, silicone rubber has the best wear resistance under DSO/GO lubrication. While for a large normal force, silicone rubber has the best wear resistance under engine oil lubrication. Full article

Polyelectrolyte microcapsules (PMC) based on polyallylamine and polystyrene sulfonate are utilized in various fields of human activity, including medicine, textiles, and the food industry, among others. However, characteristics such as microcapsule size, shell thickness, and pore size are not sufficiently studied and systematized, even though they determine the possibility of using microcapsules in applied tasks. The aim of this review is to identify general patterns and gaps in the study of the morphology of polyelectrolyte microcapsules obtained by the alternate adsorption of polystyrene sulfonate and polyallylamine on different solid cores. First and foremost, it was found that the morphological change in polyelectrolyte microcapsules formed on different cores exhibits a significant difference in response to varying stimuli. Factors such as ionic strength, the acidity of the medium, and temperature have different effects on the size of the microcapsules, the thickness of their shells, and the number and size of their pores. At present, the morphology of the microcapsules formed on the melamine formaldehyde core has been most studied, while the morphology of microcapsules formed on other types of cores is scarcely studied. In addition, modern methods of nanoscale system analysis will allow for an objective assessment of PMC characteristics and provide a fresh perspective on the subject of research. Full article

Through the shikimate pathway, a massive metabolic flux connects the central carbon metabolism with the synthesis of chorismate, the common precursor of the aromatic amino acids phenylalanine, tyrosine, and tryptophan, as well as other compounds, including salicylate or folate. The alternative metabolic channeling of chorismate involves a key branch-point, finely regulated by aromatic amino acid levels. Chorismate mutase catalyzes the conversion of chorismate to prephenate, a precursor of phenylalanine and tyrosine and thus a vast repertoire of fundamental derived compounds, such as flavonoids or lignin. The regulation of this enzyme has been addressed in several plant species, but no study has included conifers or other gymnosperms, despite the importance of the phenolic metabolism for these plants in processes such as lignification and wood formation. Here, we show that maritime pine (Pinus pinaster Aiton) has two genes that encode for chorismate mutase, PpCM1 and PpCM2. Our investigations reveal that these genes encode plastidial isoenzymes displaying activities enhanced by tryptophan and repressed by phenylalanine and tyrosine. Using phylogenetic studies, we have provided new insights into the possible evolutionary origin of the cytosolic chorismate mutases in angiosperms involved in the synthesis of phenylalanine outside the plastid. Studies based on different platforms of gene expression and co-expression analysis have allowed us to propose that PpCM2 plays a central role in the phenylalanine synthesis pathway associated with lignification. Full article

Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease mainly caused by mutations in the X-linked CYBB gene that abrogate reactive oxygen species (ROS) production in phagocytes and microbial defense. Gene repair using the CRISPR/Cas9 system in hematopoietic stem and progenitor cells (HSPCs) is a promising technology for therapy for CGD. To support the establishment of efficient and safe gene therapies for CGD, we generated a mouse model harboring a patient-derived mutation in the CYBB gene. Our CybbC517del mouse line shows the hallmarks of CGD and provides a source for Cybb-deficient HSPCs that can be used to evaluate gene-therapy approaches in vitro and in vivo. In a setup using Cas9 RNPs and an AAV repair vector in HSPCs, we show that the mutation can be repaired in 19% of treated cells and that treatment restores ROS production by macrophages. In conclusion, our CybbC517del mouse line provides a new platform for refining and evaluating novel gene therapies and studying X-CGD pathophysiology. Full article