Scientific Reports最新文献

{"title":"Evolutionary unpredictability in cancer model systems.","authors":"Subhayan Chattopadhyay, Jenny Karlsson, Michele Ferro, Adriana Mañas, Ryu Kanzaki, Elina Fredlund, Andrew J Murphy, Christopher L Morton, Natalie Andersson, Mary A Woolard, Karin Hansson, Katarzyna Radke, Andrew M Davidhoff, Sofie Mohlin, Kristian Pietras, Daniel Bexell, David Gisselsson","doi":"10.1038/s41598-025-07407-6","DOIUrl":"10.1038/s41598-025-07407-6","url":null,"abstract":"<p><p>Despite the advent of advanced molecular prognostic tools, it is still difficult to predict the course of disease for cancer patients at the individual level. This lack of predictability is also reflected in many experimental cancer model systems, begging the question of whether certain biological aspects of cancer (eg. growth, evolution etc.) can ever be anticipated or if there remains an inherent unpredictability to cancer, similar to other complex biological systems. We demonstrate by a combination of agent-based mathematical modelling, analysis of patient-derived xenograft model systems from multiple cancer types, and in-vitro culture that certain conditions increase stochasticity of the clonal landscape of cancer growth. Our findings indicate that under those conditions, the cancer genome may behave as a complex dynamic system, making its long-term evolution inherently unpredictable.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20334"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.","authors":"Andrea Domenico Praticò, Claudia Di Napoli, Stefania Salafia, Edoardo Dammino, Maria Piccione, Francesco Calì, Renato Scifo, Michele Vecchio, Andrea Zonta, Maria Bonsignore, Maurizio Elia, Manuela Lo Bianco, Agata Polizzi, Martino Ruggieri","doi":"10.1038/s41598-025-04718-6","DOIUrl":"10.1038/s41598-025-04718-6","url":null,"abstract":"<p><p>Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas and prominent neurological involvement. It results from pathogenic variants in the TSC1 or TSC2 genes, leading to hyperactivation of the mTOR pathway and consequent dysregulation of cell growth. These tumor suppressor genes encode hamartin and tuberin, proteins critical for regulating cell proliferation, neuronal excitability and synaptogenesis. In this retrospective study, we analyzed clinical, genetic and radiological features of 81 TSC patients from Sicily, focusing on genotype-phenotype correlations and intergroup comparisons. Pathogenic TSC2 variants were more common than pathogenic TSC1 variants (61.7% vs. 38.3%). Patients with pathogenic TSC2 variants tended to exhibit a higher frequency of weekly seizures, a higher prevalence of infantile spasms and hypsarrhythmia compared to those with pathogenic TSC1 variants, consistent with a more severe phenotype. Interestingly, TSC1 patients exhibited a higher incidence of radial bands, while TSC2 patients harbored a larger average size of tubers and subependymal nodules. Cognitive and behavioral disorders were similarly distributed, although TSC1 patients had higher rates of normal or borderline cognitive function, while TSC2 patients had more severe neuropsychiatric profiles compared to TSC1. To our knowledge, this is the first comprehensive TSC1 and TSC2 mutational analysis and genotype-phenotype correlation study carried out in a large cohort of Sicilian patients affected by TSC. Our findings contribute to regional and global data on TSC, emphasizing the utility of genotype-informed management strategies.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20347"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk assessment of heavy metals in coastal sediments of the Red Sea in Egypt.","authors":"Mahmoud A Dar, Amany G Madkour, Ahmed R Elgendy, Ghada Y Zaghloul, AbdElMohsen S ElDaba","doi":"10.1038/s41598-025-07135-x","DOIUrl":"10.1038/s41598-025-07135-x","url":null,"abstract":"<p><p>The Red Sea's near-shore zones are considered nurseries and grazing grounds for the various economic fish species. To illustrate the relation between human health and seafloor sediments, the geological and geochemical properties of seafloor sediments were investigated in near-shore zones at Marsa Alam and Hurghada cities along the Red Sea. The obtained data illustrated that the sediment nature at Hurghada is primarily of biogenic origin, as indicated by the high carbonate contents; however, the sediment nature at Marsa Alam is attributed mainly to the terrigenous origin. Accordingly, the studied heavy metals at both localities showed different feeding sources; Marsa Alam sites showed high levels of Fe, Mn, Zn, Ni, and Cu attributed to terrigenous inputs; however, the high averages of Cd and Pb at Hurghada indicating influence from land-based and anthropogenic activities. The calculated risk assessment parameters and carcinogenic risk (ILCR) do not indicate any significant risk. Geochemically and as indicated by the statistical parameters: correlation coefficient, PCA, and Geo-accumulation (Igeo); Mn, Zn, Cu, and Ni were found to be mainly associated with Fe in the same source of accumulation and similar geochemical forms. However, the adsorption over sediment particles and/or assimilation inside the carbonate lattices are possible occurrences of Cd, Pb, and partially Ni. The calculated risk assessment parameters and carcinogenic risk (ILCR) do not indicate any significant risk to marine organisms and human consumption.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20330"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond planar: fish schools adopt ladder formations in 3D.","authors":"Hungtang Ko, Abigail Girma, Yangfan Zhang, Yu Pan, George Lauder, Radhika Nagpal","doi":"10.1038/s41598-025-06150-2","DOIUrl":"10.1038/s41598-025-06150-2","url":null,"abstract":"<p><p>The coordinated movement of fish schools has long captivated researchers studying animal collective behavior. Classical literature from Weihs and Lighthill suggests that fish schools should favor planar diamond formations to increase hydrodynamic efficiency, inspiring a large body of work ranging from fluid simulations to hydrofoil experiments. However, whether fish schools actually adopt and maintain this idealized formation remains debated and unresolved. When fish schools are free to self-organize in three dimensions, what formations do they prefer? By tracking polarized schools of giant danios (Devario aequipinnatus) swimming continuously for ten hours, we demonstrate that fish rarely stay in a horizontal plane, and even more rarely, in the classical diamond formation. Of all fish pairs within four body-lengths from each other, only 25.2% were in the same plane. Of these, 54.6% were inline, 30.0% were staggered, and 15.4% were side-by-side. The diamond formation was observed in less than 0.1% of all frames. Notably, a vertical \"ladder formation\" emerged as the most probable formation for schooling giant danios, appearing in 79% of all fish pairs, and it elongated at higher swimming speeds. These findings highlight the dynamic and three-dimensional nature of fish schools and suggest that hydrodynamic benefits may be obtained without maintaining fixed formations. This research provides a foundation for future studies that examine the hydrodynamics and control of underwater collectives in 3D formations.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20249"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The arousal paradox in critical task performance in automated driving during sleep inertia using a quasi experimental approach.","authors":"Markus Tomzig, Johanna Wörle, Alexandra Neukum, Martin Baumann","doi":"10.1038/s41598-025-08726-4","DOIUrl":"10.1038/s41598-025-08726-4","url":null,"abstract":"<p><p>Sleep inertia is the post-awakening transitional state of lowered arousal, characterized by increased low-frequency activity in the electroencephalogram (EEG) and impaired cognition. While some theories consider arousal holistically, recent research questions whether these findings apply to situations requiring immediate critical action post-awakening, such as for pilots, emergency responders, or future drivers of automated vehicles. This study compared self-reported, cortical, and physiological arousal in such a scenario. Twenty-four participants completed four drives in a driving simulator. In three drives, participants were instructed to sleep for 20, 40, and 60 min during automated driving before being prompted to resume control. The sleep stage prior to the takeover request served as a quasi-experimental independent variable. Regression analyses showed that cortical arousal was low following awakenings from N2 or N3, indicated by increased delta, theta, and alpha activity. However, beta activity and heart rate also increased, suggesting elevated physiological arousal. Significant positive correlations were found between delta activity, heart rate and self-reported sleepiness. This \"arousal paradox\" is not in line with the idea of arousal as a holistic concept. We hypothesize that the heightened physiological response under sleep inertia may be attributed to stress in demanding situations under sleep inertia. We conclude that forced awakenings from N2 or N3 should be avoided. If someone is nevertheless awakened from N2 or N3, they should be given sufficient time between awakening and taking over duties for arousal to normalize.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20338"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ultrathin monolithic bimorph mirror using polarization-inverted lithium niobate wafer.","authors":"Takato Inoue, Junya Yoshimizu, Toma Ueyama, Maaya Kano, Yoshiki Kohmura, Makina Yabashi, Satoshi Matsuyama","doi":"10.1038/s41598-025-05019-8","DOIUrl":"10.1038/s41598-025-05019-8","url":null,"abstract":"<p><p>Deformable mirrors (DMs) serve diverse applications and have been adopted in X-ray optics recently. DMs are being used in various X-ray optical systems with variable parameters, with piezoelectric bimorph mirrors favored the most. However, conventional bimorph mirrors have limited deformation capabilities. In this study, we propose a novel monolithic bimorph mirror that utilizes the polarization inversion properties of lithium niobate. Unlike traditional bimorph mirror designs that require bonding multiple materials, this approach allows for an extremely thin mirror that significantly enhances its deformation capabilities. Experimental fabrication of the mirror demonstrated a substantial curvature change of 0.1 m^- 1. Furthermore, upon introduction of this novel mirror into SPring-8 as X-ray focusing optics, it achieved deformation to a target elliptical shape with a 1 μm peak-to-valley height and 3 nm precision. This accuracy and large deformation amount allowed for huge variation in the X-ray beam size from 200 nm to 683 μm. Such extensive beam size variability is offering significant potential for advancing X-ray analytical and imaging applications.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20238"},"PeriodicalIF":3.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12205048/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144512523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bonobos tend to behave optimistically after hearing laughter.","authors":"Sasha L Winkler, Isabelle B Laumer, Heidi Lyn, Erica A Cartmill","doi":"10.1038/s41598-025-02594-8","DOIUrl":"10.1038/s41598-025-02594-8","url":null,"abstract":"<p><p>Emotions mediate a wide range of cognitive functions, including memory, attention, and decision making. Studies of emotion in non-human animals have typically focused on negative emotions-like fear-that have clear behavioral correlates (e.g., freezing or retreating). To address this one-sided treatment of affect, we used a cognitive bias test to ask whether vocalizations associated with positive affect lead apes to expect positive future outcomes. All great apes produce laughter-like vocalizations during play that likely evolved from a shared ancestral form of laughter. We primed bonobos with conspecific laughter and then asked whether they were more likely to treat an ambiguous stimulus as if it were positive. Subjects (n = 4) were first trained to approach rewarded (black) stimuli and skip unrewarded (white) stimuli. We then presented occasional ambiguous (grey) stimuli. Bonobos approached ambiguous stimuli to search for rewards more often after hearing laughter. Our results suggest that hearing laughter induces positive emotions and may thus bias bonobos' decision making, including foraging or search behavior. While only apes produce human-like laughter, several other non-human animals have contagious play vocalizations. These vocalizations may lead other animals to anticipate positive outcomes, revealing commonalities in the role of positive emotion in behavior and cognition across species.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20067"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: All-2D ReS₂ transistors with split gates for logic circuitry.","authors":"Junyoung Kwon, Yongjoon Shin, Hyeokjae Kwon, Jae Yoon Lee, Hyunik Park, Kenji Watanabe, Takashi Taniguchi, Jihyun Kim, Chul-Ho Lee, Seongil Im, Gwan-Hyoung Lee","doi":"10.1038/s41598-025-05614-9","DOIUrl":"10.1038/s41598-025-05614-9","url":null,"abstract":"","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20317"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI driven prediction of early age compressive strength in ultra high performance fiber reinforced concrete.","authors":"Mohamed Abdellatief, Wafa Hamla, Hassan Hamouda","doi":"10.1038/s41598-025-06725-z","DOIUrl":"10.1038/s41598-025-06725-z","url":null,"abstract":"<p><p>Ultra-high-performance fiber-reinforced concrete (UHPFRC) is an exceptional type of cementitious composite with superior mechanical and durability performances. Achieving these properties involves maintaining a low water-to-cement ratio, optimizing aggregate size distribution, and integrating fiber reinforcement. Recently, there has been a notable trend in the development and application of UHPFRCs. However, there is still a requirement for artificial intelligence (AI) methods to predict the early-age compressive strength (CS) of UHPFRC and to define the key input factors for optimal mix design with appropriate proportions. Therefore, five AI models were chosen to assess the predictive accuracy of early-age CS in the current study. These models include support vector regression (SVR), random forest (RF), artificial neural network (ANN), gradient boosting (GB), and Gaussian Process Regression (GPR). As part of evaluating model performance and conducting error analysis, this study investigated differences in prediction accuracy among five models across training and testing datasets. Additionally, feature importance analysis was implemented to explore the influence of the input variables on the early-age CS. Results indicate that GPR and SVR models with high predictive accuracy (R² > 0.90) outperformed ANN, RF, and GB models. Water, superplasticizer, curing temperature, and fiber content emerged as the most significant controlling parameters affecting early-age CS. The analysis of the interaction among the significant input variables and early-age CS suggests recommended inclusion levels for optimal performance. Specifically, it is recommended that the water content be maintained between 145 and 155 kg/m², the superplasticizer content between 30 and 40 kg/m², and the fiber content exceed 200 kg/m². These recommendations are aimed at achieving desirable early-age CS characteristics. The overall findings reveal that the AI models can effectively improve the monitoring of early-age CS of UHPFRC.</p>","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20316"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative effects of sensory motor and virtual reality interventions to improve gait, balance and quality of life MS patients.","authors":"Seyed Hadi Asghari, Saeed Ilbeigi, Mohsen Mohammadnia Ahmadi, Mohammad Yousefi, Mohammad Mousavi-Mirzaei","doi":"10.1038/s41598-025-05048-3","DOIUrl":"10.1038/s41598-025-05048-3","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Multiple sclerosis (MS) is a neurological disorder that affects the central nervous system, causing inflammation and damage to the myelin sheath, leading to balance and gait impairments. Sensory-motor (SN) and virtual reality (VR) interventions have shown promise in addressing these balance issues by engaging all three components of the balance control systems. This study aimed to compare the effectiveness of sensory-motor and virtual reality training on the functional status and quality of life of MS patients. In this study, 36 MS patients receiving Rituximab therapy with an Expanded Disability Status Scale (EDSS) of 2 to 6 were randomly assigned to three groups: SN (n = 10), VR (n = 8), and a control group (n = 10). The SN and VR groups underwent 8 weeks of intervention, with 3 sessions per week, while the control group continued routine care. Assessments using the Timed Up and Go (TUG) test, the Timed 25-Foot Walk (T25FW) test, the Multiple Sclerosis Quality of Life 54 Instrument (MSQOL54), and the Pittsburgh Sleep Quality Index (PSQI) were conducted at baseline and after 8 weeks. Significant within-group improvements were observed in both SN and VR groups for primary outcomes, including the T25FW (P = 0.002 for SN; P = 0.001 for VR) and TUG (P = 0.005 for SN; P = 0.001 for VR), as well as secondary outcomes such as overall (P &lt; 0.001 for both), physical (P &lt; 0.001 for both), and mental (P &lt; 0.001 for both) MSQOL-54 components, and PSQI (P &lt; 0.001 for SN; P = 0.046 for VR). However, no significant differences emerged between SN and VR groups for primary outcomes, except for PSQI, which favored SN (P = 0.02). Compared to the control group, the SN group demonstrated significant improvements in primary outcomes-T25FW (P &lt; 0.001) and TUG (P = 0.01)-and secondary outcomes, including overall (P &lt; 0.001), physical (P &lt; 0.001), and mental (P = 0.002) MSQOL-54 components, and PSQI (P = 0.007). Similarly, compared to the control group, the VR group demonstrated significant improvements in the T25FW (P = 0.02) and TUG (P = 0.05) tests, as well as in secondary outcomes, including overall (P = 0.005), physical (P = 0.003), and mental (P = 0.01) MSQOL-54 components. However, no significant improvement in PSQI was observed (P = 0.9). This study highlights the significant transformative potential of integrating VR and SN interventions as innovative therapeutic modalities for addressing critical motor impairments, specifically balance and gait, in individuals with MS. By employing task-oriented paradigms, dual-task methodologies, and multisensory frameworks, these interventions not only yield substantial improvements in functional mobility and quality of life but also represent a groundbreaking synthesis of immersive, technology-driven motivation with the pragmatic adaptability of evidence-based SN techniques. Further longitudinal investigations are warranted to delineate their sustained effects, refine their application in broader MS populations, and as","PeriodicalId":21811,"journal":{"name":"Scientific Reports","volume":"15 1","pages":"20310"},"PeriodicalIF":3.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12202798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144508340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}