Applied Sciences
○ MDPI AG
Preprints posted in the last 90 days, ranked by how well they match Applied Sciences's content profile, based on 25 papers previously published here. The average preprint has a 0.03% match score for this journal, so anything above that is already an above-average fit.
Li, P.; Wang, Y.; Zhang, Y.; Meng, X.; Zhang, H.
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Objective To develop an intelligent predictive indicator system for determining weaning and extubation timing in mechanically ventilated patients, providing a theoretical foundation for clinical decision support systems and intelligent assessment in critical care nursing. Methods A literature review was conducted to identify and extract factors influencing weaning and extubation timing in mechanically ventilated patients, forming the initial item pool for the indicator system. A Delphi expert consultation questionnaire was designed and administered to 21 experts from relevant fields over two rounds. Item screening and revision were performed using the boundary value method, based on the arithmetic mean of importance scores, coefficient of variation (CV), and qualitative expert feedback. Results The effective response rate was 100% for both rounds. The expert authority coefficient (Cr) was 0.89 in the first round and 0.93 in the second round. Kendall's W was 0.244 ({chi}{superscript 2} = 1038.944, P < 0.001) in the first round and 0.079 ({chi}{superscript 2} = 350.343, P < 0.001) in the second round. Following the first round of evaluation of 203 items--which resulted in 13 additions, 23 modifications, and the separation of weaning/extubation dimensions--the second round comprised 211 evaluation items. The final system encompassed 6 primary indicators and 58 secondary indicators (with tertiary indicators under each), covering the complete clinical trajectory: medical history, ICU admission assessment, pre-weaning/extubation assessment, weaning assessment, extubation assessment, and post-extubation outcomes. Conclusion This indicator system was developed through a rigorous process with high expert authority and good consensus. The indicators are clinically comprehensive, nursing-operable, and suitable for intelligent modeling. This system can serve as a core framework for risk warning, timing judgment, and intelligent prediction system development for weaning and extubation in mechanically ventilated patients.
Maidment, D. W.; Habib, A.; Gomez, R.; Benton, C.; Ferguson, M. A.
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The availability of hearing aids that can connect wirelessly to smartphone technologies via Bluetooth has grown exponentially in recent years. However, there is limited evidence assessing the benefits of user-adjustability afforded by these devices. This study aimed to assess the benefits of smartphone-connected hearing aids and an accompanying application (or app) in new and existing hearing aid users. In this single-centre, prospective, observational study, 44 adult hearing aid users (14 new and 30 existing) were recruited. Participants were fitted bilaterally with smartphone-connected hearing aids that could be adjusted by the user via an app. Self-reported outcome measures were collected at fitting and after seven-weeks of using the device in everyday life. For both new and existing hearing aid users, significant improvements in social participation, hearing-related fatigue, and hearing aid benefit and satisfaction were found. For existing hearing aid users, all outcomes were significantly better for the smartphone-connected hearing aids plus app in comparison to their existing hearing aids that did not connect to a smartphone, all with moderate-to-large clinical effect sizes (d> .6). User-controllability via the app was identified as the key benefit, and most participants (68%) reported that the app met their needs 'extremely' or 'very well'. These results suggest that, when used in conjunction with an app, smartphone-connected hearing aids can improve hearing outcomes due to greater user-controllability to improve listening. Thus, smartphone-connected hearing aids have the potential to facilitate patient-centred care, empowering the individual to successfully manage their hearing loss.
Younesian, H.; Singleton, D.; Vereijken, B.; Garcia-Aymerich, J.; Rochester, L.; Berge, M. A.; Engdal, M.; Buekers, J.; Koch, S.; Helbostad, J. L.; Alvarez, P.; Jansen, C.-P.; Klenk, J.; Aminian, K.; Paraschiv-Ionescu, A.; Becker, C.; Caulfield, B.
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Physical activity (PA) is measured objectively through daily wearable monitoring and mobility capacity tests, and subjectively via patient reported outcomes (mobility perception). This study investigated longitudinal changes in, and relationships between, different measures of PA among older adults recovering from proximal femoral fracture (PFF). Participants (N=201) were classified into four groups by time since surgery at baseline (T1) and followed over two assessments (T2, T3). They wore an accelerometer for 7 consecutive days. Daily PA was measured using cut-point free metrics including Average Acceleration, Intensity Gradient, and intensity of the most active accumulated X minutes (MX: M1-M90). Mobility capacity and perception of participants were evaluated using clinical tests (e.g., 6-minute Walking Test (6MinWT)) and questionnaires (Late-Life Function and Disability Instrument (LLFDI)). MX metrics, particularly M1-M15, increased significantly across the first three groups with higher sensitivity in group 1 (p<0.001). Distance covered during the 6MinWT increased significantly (p<0.01). Three of the seven LLFDI s domains showed the largest significant changes. Overall, sustained, moderate-strong positive correlations were observed between the clinical tests, LLFDI, and short-duration MX metrics in group 3 and 4 at T1, and across all participants at T2 and T3. Thus, MX metrics (M1-M15) can reveal change for daily PA intensities, especially among PFF groups in early recovery groups at T1 and reached the late stage at follow-ups. Clinicians may focus on specific LLFDI s domains to maximize assessment efficiency. The direct links between mobility capacity, perceived mobility, and short-duration MX metrics indicate the potential of these metrics to monitor patients remotely.
Benecke, J.; Whitmer, W. M.
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Studies employing and evaluating hearing-aid self-adjustments frequently label the resulting settings as 'preferences' without questioning that label. There is a lack of inquiries into the rationale behind participants' choices or their approach to self-adjustment. We here employed a think-aloud protocol concurrent with individuals' self-adjustments to capture qualitative perspectives on these processes. Thirty-six adult hearing-aid users were asked to verbalise what they were thinking while adjusting to their preference three stimuli (music, speech or speech in noise) using three control interfaces (1 slider jointly controlling bass/treble, 2 sliders separately controlling bass and treble or 3 sliders controlling bass, mid and treble). Audio-video recordings were transcribed, annotated and analysed using inductive content coding and thematic analysis. Participants' approach and navigation of the self-adjustment process was best defined as a continuum between exploratory and anticipatory archetypes, with both types sometimes occurring at different stages within the same adjustment. The exploratory type initially assesses control functions, then selects the optimal setting from available options, and evaluates sound changes affectively in isolation or comparatively against prior settings. The anticipatory type begins by evaluating the sound, identifying issues, adjusting settings guided by past experiences, and evaluating adjustments against the identified issues. Additionally, the descriptors elicited during adjustments generally agreed with expert-based data. The resulting qualitative framework of self-adjustment helps explain both how hearing-aid users navigate the personalisation process and how self-adjustment can promote greater understanding of the options available and greater ownership in that process.
Tsanligrenchin, D.; Enkhjargal, E.-U.; Boldbaatar, O.; Shagdar, I.; Tumurtogoo, A.; Tuya, A.; Batbold, S.
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In Mongolia, an average of 65,000 women become pregnant each year, and about 59,500 babies are born. Although the number of pregnancies is decreasing by 8-12 percent each year, the level of fetal monitor usage remains high. The capital's maternity hospital currently has 27 fetal monitors in use, and an average of 30-35 calls are recorded per month. However, there is a lack of research on the use of fetal monitors, the causes and influencing factors of damage, and the organization of technical services. Therefore, this topic was chosen to determine the usage status of fetal monitors, the causes of malfunctions, and ways to improve them. Purpose To study the causes and factors affecting possible damage and injury during the use of fetal monitors, and to identify ways to reduce them. Materials and methods A one-time study was conducted on 10 MT-610 fetal monitors that were put into operation in 2019 at the Urgo Maternity Hospital in the capital. Data were collected and processed using document analysis methods from the technical passports and call logs of these devices. The factors contributing to common failures were identified using focus group interviews with the engineers and technicians responsible for the equipment. Results This study found that fetal monitor failures are caused by improper use, lack of regular calibration, electrical fluctuations, ambient temperature and humidity, and insufficient medical staff skills, training, and knowledge of how to use the device, all of which contribute to failures and measurement errors. It is also observed that when a replacement part is needed for a monitor that frequently breaks, the monitor is more likely to break again if it is used as a replacement from a previously broken monitor. Therefore, training doctors and nurses who replace spare parts on their use has been observed to significantly reduce future breakdowns. Conclusion According to the study results, the breakdowns and failures of fetal monitoring devices are mainly related to internal system failures, unstable power supply, and wear and tear of accessories and mechanical parts. The highest percentage of device failures indicates the need for special attention to the reliability of the device's basic functions. Additionally, the high percentage of accessory and printer failures indicates the need for proper use and monitoring of the entire device. In addition to technical factors, human misuse, lack of maintenance, and environmental influences also play a significant role in damage. Therefore, it is concluded that to ensure the reliable operation of fetal monitors, it is necessary to perform regular maintenance, stabilize the power supply, improve the quality of accessories, and increase the knowledge and skills of medical staff. Keywords: Fetal Monitoring, Equipment Failure, Risk Factors
Steacy, M.;Liang, C.;Vithanage, D.;Didziokas, M.;Qiu, T.;Moulding, D.;Alazmani, A.;Pauws, E.;Moazen, M.
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Sutures are the primary sites of cranial bone growth, allowing the skull to accommodate the growing brain. External mechanical stimulus has been shown to delay suture fusion and induce tissue remodelling. Recent studies suggest that in vivo cyclic bone loading increased proliferation of mesenchymal stem cells (MSC) in the coronal suture. The overall aim of this study was to understand how many loading sessions (exposure-response) and how long after loading (time-course) did MSC proliferation increase in the coronal suture. In the exposure-response analysis, mice underwent 1, 3, or 5 loading sessions between Postnatal day 7 (P7) and P11, and in the time-course analysis, treated mice underwent 10 loading sessions between P7 and P21. Loading sessions were 10 minutes at a frequency of 1 Hz and a force of 10 g (0.1 N). The loading tip was positioned on the posterior aspect of the left frontal bone, dorsal to the coronal suture. The EdU marker shows a statistically significant increase in proliferation after one loading session and a decrease after three loading sessions. The PCNA marker shows a statistically significant increase after three and five loading sessions. The exposure-response analysis showed that when the results of both markers are combined, levels of proliferation cannot be interpreted until at least five loading sessions have been completed, after which a clear increase in proliferation was observed. In the time-course analysis, proliferation was highest immediately after the final treatment session and 24 hours after the final loading session the effects of mechanical bone loading gradually returned to baseline.
Schack, M.; Rathert, H.; Boehnke, J.; Ruebsamen, N.; Bode, L.; Karch, A.; Almekkawi, M. K.; Marschollek, M.; Beerbaum, P.; Wulff, A.; Jack, T.
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Background: Sepsis is a life-threatening condition triggered by infection and associated with dysregulated immune response of the patient followed often by multiorgan dysfunction or failure. In the clinical evolution of sepsis towards organ dysfunction, early initiation of a suited therapy significantly increases patient outcomes and reduces mortality rates. Since electronic health records provide data in a machine-readable format, this process could be supported by computerized systems. Methods: We developed an interoperable, time-sensitive CDSS that able to detect systemic inflammation and the different classifications of sepsis (bacterial/viral, suspected/proven, on admission/PICU acquired) in pediatric patients based on the analysis of routine clinical data. This application is provided as part of this publication as an open demonstrator (web application), and the usability and accuracy of the CDSS is shown by a retrospective creation of sepsis outcome labels for a routine data set of 4,655 pediatric patients. As a reference standard, the patients were manually assessed by blinded clinical experts. Results: In comparison with the reference standard, the CDSS achieved sensitivity of 96.9% (95% CI: 80.9-99.6%) and specificity of 99.1% (95% CI: 95.1-99.8%). In the context of a sepsis outcome labeling for 4,655 patients, the CDSS detected 4,342 episodes of inflammation of which 1,723 were classified as sepsis. Conclusions: We demonstrated that our routine-data based CDSS is able to perform a complex sepsis detection process with high diagnostic accuracy. Such CDSS with the ability to differentiate between SIRS, sepsis on admission, suspected and proven sepsis can prospectively support clinical management, monitoring and quality management.
Velasco-Hernandez, J. X.
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This brief work discusses potential superspreading events that may occur during the World Cup in Mexico. The study is particularly focused on the city of Guadalajara due to a large recent outbreak in January and February and insufficient vaccine coverage prior to 2026. Keywords: Superspreading; measles outbreak; branching process; individual reproduction number; World Cup
Ali, S. I.; Varatharajan, V.; Chacko, S. T.; Hazari, A.; Varghese, S. M.
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Objectives This study aimed to assess sleep patterns and life satisfaction among employees of a private company in Dubai, United Arab Emirates, and to examine the relationships among sleep quality, life satisfaction, and selected demographic variables. A quantitative descriptive cross-sectional survey design was adopted. Methods A convenience sample of 110 male employees participated in the study. Data were collected using the Sleep Disorder Assessment Scale (16 items; Cronbachs = 0.89) and the Life Satisfaction Scale (5 items). Statistical analysis was performed using SPSS version 29, including descriptive statistics, chi-square tests, and Pearson correlation analysis. Results Most participants (66.4%) were aged 20-30 years, and 82.7% experienced moderate sleep-related problems. Mobile phone use before bedtime was common, with 60.9% reporting occasional use and 35.5% reporting regular use. Overall, 41.8% reported neutral life satisfaction, while 25.5% and 24.6% were slightly and extremely satisfied, respectively. A significant negative correlation was found between poor sleep patterns and life satisfaction (r = -0.389, p < 0.001). Mobile phone use before bedtime and shift work were significantly associated with sleep patterns (p = 0.048). Conclusion Poor sleep quality, particularly among shift workers and frequent bedtime mobile phone users, is associated with lower life satisfaction. Workplace interventions promoting sleep hygiene may enhance employee well-being.
Diaz-Franco, M. V.; Caniuqueo-Vargas, A.; Lasekan, O. A.; Castillo-Sarmiento, C. A.; Rodriguez-Martin, B.
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Background: Childhood and adolescent hearing loss affects not only communication and cognitive development but also motor skills and school participation. Consequently, it generates inequalities in learning and educational inclusion. Nevertheless, no systematic review has yet analyzed these differences from an inclusive education perspective. Methods: A systematic review with meta-analysis was conducted following PRISMA guidelines and registered in PROSPERO. Observational studies comparing physical fitness between children and adolescents with hearing loss and their hearing peers were included. Methodological quality was assessed using the Newcastle--Ottawa Scale, and standardized effect sizes were calculated with a random-effects model. Results: Five studies (n=404) were analyzed. Findings revealed significant differences in strength, agility, speed, and balance. Moreover, the meta-analysis showed a large standardized effect favoring hearing children (ES=-2.35; 95% CI: -3.34 to -1.37). Conclusions: Children and adolescents with hearing loss present significantly lower physical fitness, which may affect the planning of physical education activities if their capacities are misinterpreted. Implementing inclusive and adapted strategies within the school curriculum is essential to ensure equal opportunities, improve physical fitness, and promote educational equity.
ZHAO, M.; LIU, J.; HAN, D.; ZHANG, C.; ZHOU, Y.; CHEN, S.; LIU, C.
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In vitro fertilization (IVF) laboratories equipped with timelapse incubators generate vast quantities of sequential embryo images, yet the absence of standardized, annotated databases impedes the development of reproducible computational tools for embryo assessment. Here we describe the construction of a standardized time-lapse imaging database comprising 631 normally fertilized zygotes from 218 treatment cycles, integrating timelapse image sequences, patient clinical records, and embryo developmental outcomes. We further present a gradient boosting decision tree (GBDT) ensemble framework that integrates zygote morphokinetic parameters-continuous time-series features extracted via a validated CNN-based segmentation algorithm (US Patent US11210494B2)-with conventional embryo assessment grades (categorical features per the Istanbul consensus). The fusion framework employs equal-weight initialization followed by iterative residual-decreasing training to optimally combine heterogeneous feature types. Ablation analysis demonstrated that the integrated model achieved an AUC of 0.78, significantly outperforming morphokinetics-only (AUC 0.71) and conventional-only (AUC 0.65) models, confirming the complementary value of the two data modalities. The database and fusion framework provide a reproducible foundation for embryo development assessment and are generalizable to other multimodal data integration tasks in reproductive medicine.
Rampersaud, Y. R.; Perruccio, A. V.; Collett, E.; Sundararajan, K.; Du, J. T.; Montoya, L.; Power, J. D.; Canizares, M.; Kapoor, M.; Davey, J. R.; Gandhi, R.; Lewis, S.; Syed, K. A.; Veillette, C. J.; Coyte, P. C.; Mahomed, N. N.
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Background Annually, nearly 2 million hip, knee, and spinal inpatient surgeries are performed in Canada and the US for osteoarthritis (OA), costing over $37 billion in hospital expenditures. However, 15-30% of patients experience limited or no improvement, resulting in poor value for money. This study evaluated the one-year cost-utility of joint and spine procedures for OA by comparing non-responders to responders, considering various responder definitions. Methods Individual micro-costing data were collected for 1,175 elective hip, knee, and spine patients enrolled in the Longitudinal Evaluation in the Arthritis Program - Osteoarthritis (LEAP-OA) between 2014 and 2018. Quality-adjusted life years (QALYs) were derived using the SF-6D utility index. One-year incremental cost-utility ratios (ICURs) were calculated from the hospital perspective. Results Responder rates varied by definition, ranging from 78%-94% for hip replacements, 64%-90% for knee replacements, 60%-64% for spine fusions, and 50%-68% for spine decompressions. Corresponding ICURs were: $45,956-$51,773/QALY for responders versus $108,593-$485,762/QALY for non-responders for hip replacements; $54,831-$71,151/QALY for responders versus $200,486-$1,203,596/QALY for non-responders for knee replacements; $65,980-$74,422/QALY for responders versus $262,039-$729,686/QALY for non-responders for spine fusions; and $29,947-$42,168/QALY for responders versus $63,195-$662,586/QALY for non-responders for spine decompressions. Conclusions While surgical response rates were highly dependent on the responder definition, ICURs for non-responders were significantly higher than those for responders across all definitions. Beyond the negative impact on patients, there is a compelling economic argument for investment in improved pre-operative identification of patients at risk of surgical non-response. Such efforts could enable more personalized, value-based care pathways and reduce the provision of low-value surgical interventions.
Fabry, B.; Kuster, C.; Francis, R.
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Background: Automatic tube compensation (ATC) was designed to compensate for the additional resistive load imposed by the endotracheal tube during spontaneous breathing. In ATC mode, the ventilator adds or subtracts the flow-dependent pressure drop across the tube during both inspiration and expiration so that tracheal pressure remains close to PEEP. Early prototype ventilators achieved true tracheal-pressure control and showed physiological and clinical benefits, but clinical studies with commercial systems have failed to confirm these earlier findings. A 2003 bench study found that commercial ventilators provided, at best, only partial tube compensation, unlikely to result in meaningful clinical benefit. We therefore tested whether this limitation has been remedied in contemporary ICU ventilators. Methods: We performed a bench comparison of five commercial ICU ventilators and an ATC prototype ventilator designed to accurately compensate for the flow-dependent resistance over a wide range of flow rates. An active lung simulator generated spontaneous breathing patterns with weak, moderate, and strong inspiratory efforts at different PEEP levels. We tested each breathing pattern through endotracheal tubes with inner diameters of 7 and 8 mm, and measured airway pressure, tracheal pressure, and flow during CPAP with and without ATC. Breathing through the tube against open atmosphere served as a zero-PEEP/T-piece reference. Results: In CPAP mode, the commercial ventilators showed flow-dependent airway-pressure deviations, amounting to a substantial added resistance of 1.5 - 6.5 mbar/(L/s), whereas the ATC prototype ventilator imposed an added resistance of only 0.6 mbar/(L/s). In ATC mode, the commercial ventilators reduced the resistive load by no more than by 25%, and large tracheal-pressure deviations remained, especially at higher inspiratory effort and during expiration. In some cases, the residual load during ATC was even greater than the load during unsupported breathing through the tube. By contrast, the ATC prototype ventilator maintained tracheal pressure close to PEEP throughout the breathing cycle and eliminated on average 79% of the tube-related resistive load. Conclusions: In the commercial ventilators evaluated in this study, the defining physiological objective of ATC was only partially achieved. Therefore, clinical benefits previously reported for tracheal-pressure control support should be interpreted with caution when applied to commercial ATC implementations, unless effective tube compensation has been demonstrated under relevant conditions. These findings suggest that more advanced control approaches, such as those implemented in the ATC prototype ventilator, may be required to achieve consistent and physiologically accurate tube compensation.
Campbell, J. A.; Lundberg, P.; Hölker, F.
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This brief communication presents two solutions for calculating absolute measures of error from time-difference-of-arrival (TDOA) positioning in underwater acoustic telemetry arrays. First, a Monte Carlo estimation of TDOA positioning error is derived. Next, a computationally inexpensive, approximate solution to the Monte Carlo method is presented. This approximate solution is achieved by solving the Jacobian of a closed-form TDOA positioning model. The positioning error covariance matrix returned from either method can then be used to report the accuracy of TDOA positions or utilized in state-space positioning models. Finally, calculations of the expected radial error are shown which serves as a simple summary statistic for reporting positioning error in real units.
Caputo, J. E.; Manzoni, T. J.; Ewine, I.; Su, A. W.; Parreno, J.
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The surface layer of articular cartilage provides for low-friction joint movement and protects the tissue from mechanical wear. The superficial zone chondrocytes (SZCs) of the surface layer produce proteoglycan-4 (PRG4), which is a lubricant that is necessary to reduce friction. Articular cartilage has limited capacity for self-repair and cell-based therapies, such as autologous chondrocyte implantation (ACI), is used to stimulate repair. However, in ACI, cells are expanded on tissue culture polystyrene where SZC poorly attach, proliferate slowly and dedifferentiate. Consequently, expanded SZC produce fibrocartilage tissue with insufficient PRG4. We previously demonstrated that culturing SZC on chondrocyte-derived decellularized extracellular matrix (CM) enhances SZC attachment and preserves phenotype. Since fibronectin (FN) was identified as the most abundant matrix protein within CM, here we tested the hypothesis that FN-coated culture surfaces would partially reproduce the beneficial effects of CM. We found that, similar to CM, SZC on FN-coated polystyrene increased SZC attachment and proliferation. However, unlike CM, SZCs expanded on FN-coated polystyrene remained more dedifferentiated as indicated by spread cells, elevated fibroblastic and contractile mRNA levels, and increased formation of SMA positive stress fibers. Consistent with the dedifferentiated phenotype, SZC on FN-coated polystyrene displayed extensive stress fibers, and higher nuclear myocardin-related-transcription-factor-a (MRTF-A). In contrast, CM reduced stress fiber formation and diminished nuclear MRTF-A in SZC. CM provides matrix cues beyond FN that suppress dedifferentiation and preserve the SZC phenotype. Identifying the matrix cues necessary to improve SZC expansion could lead to the generation of a superior surface in ACI repair tissue.
Wu, Z.; den Haan, S. L.; Nijhuis, W. H.; Janda, C. Y.; Margaritis, T.; Weinans, H.; Sakkers, R. J. B.; Spaans, A. J.; Warmink, K.
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INTRODUCTION: Osteogenesis imperfecta (OI) is a genetic disorder primarily due to mutations in collagen type I-encoding genes, resulting in fragile bones, frequent fractures, pain, and mobility issues. Disease severity and phenotype vary widely, even with the same mutation, suggesting the importance of other factors within the bone microenvironment that influence disease severity. To study the role of such factors, we analyzed bone samples from OI patients and healthy controls using single-cell RNA sequencing to reveal if RNA expression profiles may uncover mechanisms behind OI phenotype. METHODS: Bone samples from surgeries of OI patients and healthy individuals isolated and RNA single-cell sequencing was performed, followed by quality control and bioinformatics analysis. Two healthy and three OI patients were included: two with type-I OI, characterized by a mutation in COL1A1 (collagen type I), and another with type-VIII OI, associated with LEPRE1 mutations, which disrupt the 3-hydroxylation of type I collagen. RESULTS: Clustering and differential expression analysis showed distinct subpopulations in mesenchymal and immune cells. In all OI samples, mesenchymal stromal cell (MSC) proportions were reduced compared to healthy controls. OI type-I patients showed decreased osteoblast numbers alongside an increase in osteoclast precursor cells. Whereas in OI type-VIII, all bone turnover-related cells (osteoblast, osteoclast precursor, and osteoclast) were elevated. Notably, BMP5 and RUNX1 were downregulated in MSCs from both OI types. DISCUSSION: This study demonstrates that the bone marrow microenvironment in OI is significantly altered beyond the known collagen defects. Single-cell RNA sequencing revealed reduced MSC numbers and downregulated osteogenic gene expression. Furthermore, alterations are patient-specific: OI type-I is characterized by reduced osteoblast counts, whereas OI type-VIII exhibits increased osteoblasts and osteoclasts. These findings highlight the critical role of impaired osteogenic differentiation and an abnormal bone remodeling environment in the pathology of OI.
Karagiannis, J.
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The relationship between genotypic and phenotypic variation is determined by the complex interaction of genetic and environmental factors. While statistical methods capable of detecting such interactions exist, an axiomatic mathematical framework that seamlessly describes the combined effects of genetic modifications and environmental exposures on a common scale is lacking. In this report, buffering concepts are used to construct a measurement system that enables the geometric representation of both gene-by-gene and gene-by-environment interactions on the extended complex plane (i.e., as projections on the Riemann sphere). In this manner, any such interaction, or combination thereof, can be precisely defined and quantified as the deviation from the neutral value calculated through the applicable complex transformation. When thus conceptualized, the framework's parameterization defines the "state space" of a given measurable phenotype along both the real and imaginary dimensions, thus establishing an unambiguous and broadly applicable method for determining the phenotypic value expected upon combinatorial changes in genetic and/or environmental variables. Remarkably, by applying these methods, it is possible to quantify the effects of any gene-by-environment interaction using the equation, AGxE=Im([z]obs*zexp)/2, where zobs and zexp are complex numbers representing the observed and expected phenotypes of a given genotype expressed in terms of the buffering parameters, and b.
Shenbagam, M.; Chowdhary, N.; Vijay, P.; Kataria, C.; Mukherjee, B.
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Background: To examine the association between ultrasound-based muscle activity detection, or sonomyography (SMG) derived metrics, and clinical measures of upper-extremity function in individuals with cervical spinal cord injury (cSCI), and to evaluate SMG-based trajectories derived directly from muscle activity as a muscle-level assessment compared to conventional kinematic approaches. Methods: Eight individuals with cSCI (n = 8; American Spinal Injury Association Impairment Scale grades A to C; injury levels C5 to C6) participated. Participants performed a wrist tenodesis based target achievement task while SMG data were collected. SMG derived metrics were correlated with performance-based upper extremity function assessed using the Jebsen Taylor Hand Function Test (JTHFT) and self-reported function assessed using the Capabilities of Upper Extremity Questionnaire (CUE-Q). Associations were quantified using distance correlation (dCorr). Results: Strong associations between SMG-derived metrics and clinical measures were observed. Movement Arrest Period Ratio (MAPR) showed the strongest association with JTHFT performance (dCorr = 0.75), while Time to Peak Velocity (TTPV) demonstrated a moderate association (dCorr = 0.62). Rate of Change of Acceleration (ROCAcc) showed a strong correlation with CUE-Q scores (dCorr {approx} 0.70), and spectral arc length (SAL) showed moderate correlations (dCorr {approx} 0.66). Conclusions: SMG-derived metrics show meaningful associations with both performance-based and self-reported measures of upper-extremity function in individuals with cSCI. These findings suggest that SMG metrics can serve as objective tools to complement clinical assessments for tracking functional status and recovery. Larger studies are needed to confirm these observations.
Correa-Olivares, A.; Lahera Champagne, A. d. l. C.; Bertadillo-Jilote, A. D.; Lira-de Leon, K. I.; Garcia-Gutierrez, D. G.; Nava, G. M.; Sanchez-Quezada, V.; Madrigal-Perez, L. A.
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Cancer, one of the worlds leading causes of death, is characterized by a complex metabolic reprogramming that features the Warburg effect as one of its hallmarks. The Warburg effect involves increased glucose and amino acid metabolism, which promotes tumor proliferation and progression. Although cancer has historically been attributed to genetic mutations, recent studies suggest a possible metabolic origin. However, a key characteristic of cancer cells is their greater adaptability than normal cells, as evidenced by their resistance to chemotherapy, which stems from their high mutability. This underscores the need to examine the relationship between metabolic reprogramming and cancer development from both metabolic and evolutionary perspectives. In this context, Saccharomyces cerevisiae snf1{Delta} strain has emerged as an ideal cellular model for studying the Warburg effect. This study aimed to determine whether deletion of the SNF1 gene in S. cerevisiae affects its chronological aging and competitiveness in a glucose and amino acid-dependent manner. Herein, we provide evidence that the snf1{Delta} strain changes the chronological aging depending on nutrimental condition, under low-nutrient levels shortens (0.1% glucose + 0.1x amino acids), and increases under high-nutrient levels (5% glucose + 3x amino acids). Competitiveness of the snf1{Delta} strain in co-cultivation with wild-type was also improved in 5% glucose + 3x amino acids, by approximately 2 Log10. These results indicate that snf1{Delta} strain aging and competitiveness are also sensitive to nutrimental status, as was observed in cancer cells.
Salis, F.; Tallone, N.; Fina, P. R.; Massobrio, R.; Bellacosa Marotti, R.; Conti, D.; Fuso, L.; Mariani, L.; Ferrero, A. M.; Accomasso, F.; Arena, A.; Borella, F.; Casula, V.; Cosma, S.; De Grandis, T.; Grisaru, D.; Lacalandra, A.; Pereira Sanchez, A.; Seracchioli, R.; Robba, E.; Roccio, M.; Gerace, F.
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Ovarian cancer is recognized as the deadliest gynecological malignancy. Diagnosis at advanced stages and the lack of effective screening program lead to poor survival rates, dropping to 17-39 % in stage III-IV diseases. Ultrasound (US) is the primary imaging modality for ovarian structures evaluation, but it is strongly affected by the operator expertise due to the complexity of adnexal masses and the physiological variability of ovarian morphology throughout a womans lifecycle. The International Ovarian Tumor Analysis (IOTA) group introduced definitions and predictive tools to standardize gynecological US interpretation. However, these tools still rely on subjective interpretation, thus highlighting the need for more objective solutions. Recent studies have explored artificial intelligence (AI) algorithms for gynecological US, mainly focusing on adnexal masses classification. Conversely, a robust solution supporting the identification and description of healthy and tumoral ovarian structures is still lacking. This paper proposes OvAi Focus, a framework including (i) a segmentation module for the identification of healthy ovaries, plus solid and cystic components of adnexal masses; (ii) a morphology module for the extraction of IOTA-based keywords to describe adnexal masses morphology. Segmentation module results were compared to ground truth masks, showing DICE scores from 0.62 for functional ovary to 0.87 for the whole adnexal mass. Morphology module was tested through interobserver agreement analysis, obtaining Fleiss Kappa from 0.16 to 0.57 and Percent Agreement from 47 to 90 %, in line with existing literature. OvAi Focus represents an innovative solution which could help overcoming subjectivity in gynecological US imaging interpretation.