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Search Results (143)

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Keywords = survival discretization

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27 pages, 5825 KB  
Article
A New One-Parameter Model by Extending Maxwell–Boltzmann Theory to Discrete Lifetime Modeling
by Ahmed Elshahhat, Hoda Rezk and Refah Alotaibi
Mathematics 2025, 13(17), 2803; https://doi.org/10.3390/math13172803 - 1 Sep 2025
Viewed by 230
Abstract
The Maxwell–Boltzmann (MB) distribution is fundamental in statistical physics, providing an exact description of particle speed or energy distributions. In this study, a discrete formulation derived via the survival function discretization technique extends the MB model’s theoretical strengths to realistically handle lifetime and [...] Read more.
The Maxwell–Boltzmann (MB) distribution is fundamental in statistical physics, providing an exact description of particle speed or energy distributions. In this study, a discrete formulation derived via the survival function discretization technique extends the MB model’s theoretical strengths to realistically handle lifetime and reliability data recorded in integer form, enabling accurate modeling under inherently discrete or censored observation schemes. The proposed discrete MB (DMB) model preserves the continuous MB’s flexibility in capturing diverse hazard rate shapes, while directly addressing the discrete and often censored nature of real-world lifetime and reliability data. Its formulation accommodates right-skewed, left-skewed, and symmetric probability mass functions with an inherently increasing hazard rate, enabling robust modeling of negatively skewed and monotonic-failure processes where competing discrete models underperform. We establish a comprehensive suite of distributional properties, including closed-form expressions for the probability mass, cumulative distribution, hazard functions, quantiles, raw moments, dispersion indices, and order statistics. For parameter estimation under Type-II censoring, we develop maximum likelihood, Bayesian, and bootstrap-based approaches and propose six distinct interval estimation methods encompassing frequentist, resampling, and Bayesian paradigms. Extensive Monte Carlo simulations systematically compare estimator performance across varying sample sizes, censoring levels, and prior structures, revealing the superiority of Bayesian–MCMC estimators with highest posterior density intervals in small- to moderate-sample regimes. Two genuine datasets—spanning engineering reliability and clinical survival contexts—demonstrate the DMB model’s superior goodness-of-fit and predictive accuracy over eleven competing discrete lifetime models. Full article
(This article belongs to the Special Issue New Advance in Applied Probability and Statistical Inference)
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14 pages, 3081 KB  
Article
Habitat Distribution Pattern of François’ Langur in a Human-Dominated Karst Landscape: Implications for Its Conservation
by Jialiang Han, Xing Fan, Ankang Wu, Bingnan Dong and Qixian Zou
Diversity 2025, 17(8), 547; https://doi.org/10.3390/d17080547 - 1 Aug 2025
Viewed by 291
Abstract
The Mayanghe National Nature Reserve, a key habitat for the endangered François’ langur (Trachypithecus francoisi), faces significant anthropogenic disturbances, including extensive distribution of croplands, roads, and settlements. These human-modified features are predominantly concentrated at elevations between 500 and 800 m and [...] Read more.
The Mayanghe National Nature Reserve, a key habitat for the endangered François’ langur (Trachypithecus francoisi), faces significant anthropogenic disturbances, including extensive distribution of croplands, roads, and settlements. These human-modified features are predominantly concentrated at elevations between 500 and 800 m and on slopes of 10–20°, which notably overlap with the core elevation range utilized by François’ langur. Spatial analysis revealed that langurs primarily occupy areas within the 500–800 m elevation band, which comprises only 33% of the reserve but hosts a high density of human infrastructure—including approximately 4468 residential buildings and the majority of cropland and road networks. Despite slopes >60° representing just 18.52% of the area, langur habitat utilization peaked in these steep regions (exceeding 85.71%), indicating a strong preference for rugged karst terrain, likely due to reduced human interference. Habitat type analysis showed a clear preference for evergreen broadleaf forests (covering 37.19% of utilized areas), followed by shrublands. Landscape pattern metrics revealed high habitat fragmentation, with 457 discrete habitat patches and broadleaf forests displaying the highest edge density and total edge length. Connectivity analyses indicated that distribution areas exhibit a more continuous and aggregated habitat configuration than control areas. These results underscore François’ langur’s reliance on steep, forested karst habitats and highlight the urgent need to mitigate human-induced fragmentation in key elevation and slope zones to ensure the species’ long-term survival. Full article
(This article belongs to the Topic Advances in Geodiversity Research)
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19 pages, 1508 KB  
Review
Critical Care Management of Surgically Treated Gynecological Cancer Patients: Current Concepts and Future Directions
by Vasilios Pergialiotis, Philippe Morice, Vasilios Lygizos, Dimitrios Haidopoulos and Nikolaos Thomakos
Cancers 2025, 17(15), 2514; https://doi.org/10.3390/cancers17152514 - 30 Jul 2025
Viewed by 559
Abstract
The significant advances in the surgical and medical treatment of gynecological cancer have led to improved survival outcomes of several subgroups of patients that were until recently opted out of treatment plans. Surgical cytoreduction has evolved through advanced surgical complexity procedures and the [...] Read more.
The significant advances in the surgical and medical treatment of gynecological cancer have led to improved survival outcomes of several subgroups of patients that were until recently opted out of treatment plans. Surgical cytoreduction has evolved through advanced surgical complexity procedures and the need for critical care of gynecological cancer patients has increased. Despite that, however, articles focusing on the need of perioperative monitoring of these patients completely lack from the international literature; hence, recommendations are still lacking. Critical care may be offered in different types of facilities with specific indications. These include the post-anesthesia care unit (PACU), the high dependency unit (HDU) and the intensive care unit (ICU) which have discrete roles and should be used judiciously in order to avoid unnecessary increases in the hospitalization costs. In the present review we focus on the pathophysiological alterations that are expected in gynecological cancer patients undergoing surgical treatment, provide current evidence and discuss indications of hospitalization as well as discharge criteria from intensive care facilities. Full article
(This article belongs to the Section Cancer Survivorship and Quality of Life)
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21 pages, 1889 KB  
Article
Optimizing Glioblastoma Multiforme Diagnosis: Semantic Segmentation and Survival Modeling Using MRI and Genotypic Data
by Yu-Hung Tsai, Wen-Yu Cheng, Bo-Hua Huang, Chiung-Chyi Shen and Meng-Hsiun Tsai
Electronics 2025, 14(12), 2498; https://doi.org/10.3390/electronics14122498 - 19 Jun 2025
Viewed by 567
Abstract
Glioblastoma multiforme (GBM) is the most aggressive and common primary brain tumor. Magnetic resonance imaging (MRI) provides detailed visualization of tumor morphology, edema, and necrosis. However, manually segmenting GBM from MRI scans is time-consuming, subjective, and prone to inter-observer variability. Therefore, automated and [...] Read more.
Glioblastoma multiforme (GBM) is the most aggressive and common primary brain tumor. Magnetic resonance imaging (MRI) provides detailed visualization of tumor morphology, edema, and necrosis. However, manually segmenting GBM from MRI scans is time-consuming, subjective, and prone to inter-observer variability. Therefore, automated and reliable segmentation methods are crucial for improving diagnostic accuracy. This study employs an image semantic segmentation model to segment brain tumors in MRI scans of GBM patients. The MRI recall images include T1-weighted imaging (T1WI) and fluid-attenuated inversion recovery (FLAIR) sequences. To enhance the performance of the semantic segmentation model, image preprocessing techniques were applied before analyzing and comparing commonly used segmentation models. Additionally, a survival model was constructed using discrete genotype attributes of GBM patients. The results indicate that the DeepLabV3+ model achieved the highest accuracy for semantic segmentation, with an accuracy of 77.9% on T1WI image sequences, while the U-Net model achieved 80.1% accuracy on FLAIR image sequences. Furthermore, in constructing the survival model using a discrete attribute dataset, the dataset was divided into three subsets based on different missing value handling strategies. This study found that replacing missing values with 1 resulted in the highest accuracy, with the Bernoulli Bayesian model and the multinomial Bayesian model achieving an accuracy of 94.74%. This study integrates image preprocessing techniques and semantic segmentation models to improve the accuracy and efficiency of brain tumor segmentation while also developing a highly accurate survival model. The findings aim to assist physicians in saving time and facilitating preliminary diagnosis and analysis. Full article
(This article belongs to the Special Issue Image Segmentation, 2nd Edition)
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11 pages, 379 KB  
Article
The Design of a Patient-Centered Hierarchal Composite Outcome for a Multi-Center Randomized Controlled Trial in Metastatic Bone Disease
by Hadia Farrukh, Abbey Kunzli, Olivia Virag, Nathan O’Hara, Sheila Sprague, Amy Cizik, Ricardo Gehrke-Becker, Thomas Schubert and Michelle Ghert
Curr. Oncol. 2025, 32(6), 318; https://doi.org/10.3390/curroncol32060318 - 30 May 2025
Cited by 1 | Viewed by 515
Abstract
The proximal femur represents the most frequent site in the appendicular skeleton for metastatic bone disease (MBD) to occur, with a high risk for pathologic fracture. While surgical stabilization is typically used to manage fractures, reconstruction approaches are gaining popularity due to improved [...] Read more.
The proximal femur represents the most frequent site in the appendicular skeleton for metastatic bone disease (MBD) to occur, with a high risk for pathologic fracture. While surgical stabilization is typically used to manage fractures, reconstruction approaches are gaining popularity due to improved survival. Previous studies have focused on clinical outcomes, but patient-centered outcomes remain underexplored. This study aims to develop a patient-centered primary outcome for the Proximal FEmur Reconstruction or Internal Fixation fOR Metastases (PERFORM) Randomized Controlled Trial, employing a mixed-methods approach. First, a focus group with advanced cancer patients and caregivers identified relevant outcomes. Next, a discrete choice experiment (DCE) assessed the importance of these outcomes among stakeholders, including surgeons, patients and caregivers. The most important components for the primary outcome were identified: mortality within twelve months, physical function assessed at four months using the PROMIS® Global Physical Function score, and the number of days at home within twelve months. The DCE further confirmed that survival and physical function were most prioritized. The PERFORM trial’s primary outcome, developed through extensive stakeholder engagement, will guide the evaluation of surgical approaches for MBD of the proximal femur and has the potential to influence patient-centered practice. Full article
(This article belongs to the Section Bone and Soft Tissue Oncology)
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20 pages, 5144 KB  
Article
Characterisation of the Pump-Suction Flow Field of Antarctic Krill and Key Influencing Factors
by Ping Liu, Liqun Lin and Zhiqiang Xu
Appl. Sci. 2025, 15(11), 5836; https://doi.org/10.3390/app15115836 - 22 May 2025
Viewed by 509
Abstract
To address the problem of high damage rates and low efficiency during Antarctic krill pumping, this study used Discrete Phase Modelling (DPM) computational fluid dynamics (CFD) to analyse how krill–water mixing ratios and centrifugal pump speeds affect flow dynamics and mechanical stresses. The [...] Read more.
To address the problem of high damage rates and low efficiency during Antarctic krill pumping, this study used Discrete Phase Modelling (DPM) computational fluid dynamics (CFD) to analyse how krill–water mixing ratios and centrifugal pump speeds affect flow dynamics and mechanical stresses. The simulation results show that a 4/6 krill-water ratio and a rotation speed of 550–600 rev/min minimise wall collision forces and krill crowding forces, thereby significantly reducing damage. Lower rotation speeds result in uneven force distribution, while higher rotation speeds have the potential to cause localised stress peaks. A mixing ratio deviation of 4/6 increases wall collisions (3/7) or interkrill crushing (5/5). These results provide a feasible guide for the design of krill suction pumps that will improve krill survival and contribute to the sustainability of the Antarctic krill fishery. Full article
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13 pages, 5440 KB  
Article
Periplasmic Protein Mobility for Extracellular Electron Transport in Shewanella oneidensis
by Daobo Li, Xiaodan Zheng, Yonggang Yang and Meiying Xu
Microorganisms 2025, 13(5), 1144; https://doi.org/10.3390/microorganisms13051144 - 16 May 2025
Viewed by 499
Abstract
Extracellular electron transport (EET) supports the survival of specific microorganisms on the Earth’s surface by facilitating microbial respiration with diverse electron acceptors. A key aspect of EET is the organization of electron relays, i.e., multi-heme c-type cytochromes (MHCs), within the periplasmic space of [...] Read more.
Extracellular electron transport (EET) supports the survival of specific microorganisms on the Earth’s surface by facilitating microbial respiration with diverse electron acceptors. A key aspect of EET is the organization of electron relays, i.e., multi-heme c-type cytochromes (MHCs), within the periplasmic space of microbial cells. In this study, we investigated the mobility of periplasmic electron relays in Shewanella oneidensis MR-1, a model strain capable of EET, using in vivo protein crosslinking to the MHCs. First, we established that crosslinking efficiency correlates with the spatial proximity and diffusion coefficient of protein molecules through in vitro tests. Based on these findings, we identified distinct molecular behaviors of periplasmic MHCs, showing that the tetraheme flavocytochrome FccA, which also serves as a periplasmic fumarate reductase, forms protein complexes with limited motility, while the small tetraheme c-type cytochrome CctA remains discrete and mobile. Both MHCs contribute to EET for bioelectrochemical nitrate and nitrite reduction. These findings reveal dual mechanisms for organizing periplasmic electron relays in EET, advancing our understanding of microbial extracellular respiration. Full article
(This article belongs to the Section Molecular Microbiology and Immunology)
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17 pages, 4541 KB  
Article
SAG Mill Grinding Media Stress Evaluation—A DEM Approach
by Murray Mulenga Bwalya, Oliver Shwarzkopf Samukute and Ngonidzashe Chimwani
Minerals 2025, 15(4), 431; https://doi.org/10.3390/min15040431 - 20 Apr 2025
Viewed by 931
Abstract
The volatility of commodity prices has obligated primary metal producers to continuously seek ways of cutting costs in mineral processing units. Improving the wear characteristics and reducing the probability of grinding media fracture can potentially reduce production costs. Characterisation of the impact-loading environment [...] Read more.
The volatility of commodity prices has obligated primary metal producers to continuously seek ways of cutting costs in mineral processing units. Improving the wear characteristics and reducing the probability of grinding media fracture can potentially reduce production costs. Characterisation of the impact-loading environment and stress induced into the grinding media in SAG mills aids manufacturers in developing grinding media with superior mechanical properties. Such grinding media development emanates from a firm understanding of the SAG process supported by computer modelling tools and well-established engineering designs. The discrete element method (DEM) is a numerical technique for evaluating collision behaviour in particulate systems. This paper discusses the application of the DEM to estimate survivability and stress, induced into grinding media in a SAG mill. Full article
(This article belongs to the Special Issue Comminution and Comminution Circuits Optimisation: 3rd Edition)
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20 pages, 1604 KB  
Article
A New Discrete Analogue of the Continuous Muth Distribution for Over-Dispersed Data: Properties, Estimation Techniques, and Application
by Howaida Elsayed and Mohamed Hussein
Entropy 2025, 27(4), 409; https://doi.org/10.3390/e27040409 - 10 Apr 2025
Viewed by 349
Abstract
We present a new one-parameter discrete Muth (DsMuth) distribution, a flexible probability mass function designed for modeling count data, particularly over-dispersed data. The proposed distribution is derived through the survival discretization approach. Several of the proposed distribution’s characteristics and reliability measures are investigated, [...] Read more.
We present a new one-parameter discrete Muth (DsMuth) distribution, a flexible probability mass function designed for modeling count data, particularly over-dispersed data. The proposed distribution is derived through the survival discretization approach. Several of the proposed distribution’s characteristics and reliability measures are investigated, including the mean, variance, skewness, kurtosis, probability-generating function, moments, moment-generating function, mean residual life, quantile function, and entropy. Different estimation approaches, including maximum likelihood, moments, and proportion, are explored to identify unknown distribution parameters. The performance of these estimators is assessed through simulations under different parameter settings and sample sizes. Additionally, a real dataset is used to emphasize the significance of the proposed distribution compared to other available discrete probability distributions. Full article
(This article belongs to the Section Information Theory, Probability and Statistics)
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25 pages, 1821 KB  
Article
SSL-SurvFormer: A Self-Supervised Learning and Continuously Monotonic Transformer Network for Missing Values in Survival Analysis
by Quang-Hung Le, Brijesh Patel, Donald Adjeroh, Gianfranco Doretto and Ngan Le
Informatics 2025, 12(1), 32; https://doi.org/10.3390/informatics12010032 - 19 Mar 2025
Viewed by 1693
Abstract
Survival analysis is a crucial statistical technique used to estimate the anticipated duration until a specific event occurs. However, current methods often involve discretizing the time scale and struggle with managing absent features within the data. This becomes especially pertinent since events can [...] Read more.
Survival analysis is a crucial statistical technique used to estimate the anticipated duration until a specific event occurs. However, current methods often involve discretizing the time scale and struggle with managing absent features within the data. This becomes especially pertinent since events can transpire at any given point, rendering event analysis a continuous concern. Additionally, the presence of missing attributes within tabular data is widespread. By leveraging recent developments of Transformer and Self-Supervised Learning (SSL), we introduce SSL-SurvFormer. This entails a continuously monotonic Transformer network, empowered by SSL pre-training, that is designed to address the challenges presented by continuous events and absent features in survival prediction. Our proposed continuously monotonic Transformer model facilitates accurate estimation of survival probabilities, thereby bypassing the need for temporal discretization. Additionally, our SSL pre-training strategy incorporates data transformation to adeptly manage missing information. The SSL pre-training encompasses two tasks: mask prediction, which identifies positions of absent features, and reconstruction, which endeavors to recover absent elements based on observed ones. Our empirical evaluations conducted across a variety of datasets, including FLCHAIN, METABRIC, and SUPPORT, consistently highlight the superior performance of SSL-SurvFormer in comparison to existing methods. Additionally, SSL-SurvFormer demonstrates effectiveness in handling missing values, a critical aspect often encountered in real-world datasets. Full article
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15 pages, 6404 KB  
Article
Inferring Water Quality in the Songhua River Basin Using Random Forest Regression Based on Satellite Imagery and Geoinformation
by Zhanqiang Yu, Hangnan Yu, Lan Li, Jiangtao Yu, Jie Yu and Xinyue Gao
Hydrology 2025, 12(3), 61; https://doi.org/10.3390/hydrology12030061 - 17 Mar 2025
Viewed by 866
Abstract
Maintaining high water quality is essential not only for human survival but also for social and ecological safety. In recent years, due to the influence of human activities and natural factors, water quality has significantly deteriorated, and effective water quality monitoring is urgently [...] Read more.
Maintaining high water quality is essential not only for human survival but also for social and ecological safety. In recent years, due to the influence of human activities and natural factors, water quality has significantly deteriorated, and effective water quality monitoring is urgently needed. Traditional water quality monitoring requires substantial financial investment, whereas the remote sensing and random forest model not only reduces operational costs but also achieves a paradigm shift from discrete sampling points to spatially continuous surveillance. The random forest model was adopted to establish a remote sensing inversion model of three water quality parameters (conductivity, total nitrogen (TN), and total phosphorus (TP)) during the growing period (May to September) from 2020 to 2022 in the Songhua River Basin (SRB), using Landsat 8 imagery and China’s national water quality monitoring section data. Model verification shows that the R2 of conductivity is 0.67, followed by that of TN at 0.52 and TP at 0.47. The results revealed that the downstream conductivity of SRB (212.72 μS/cm) was significantly higher than that upstream (161.62 μS/cm), with TN and TP concentrations exhibiting a similar increasing pattern. This study is significant for improving ecological conservation and human health in the SRB. Full article
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23 pages, 860 KB  
Article
Hybrid Disassembly Line Balancing of Multi-Factory Remanufacturing Process Considering Workers with Government Benefits
by Xiaoyu Niu, Xiwang Guo, Peisheng Liu, Jiacun Wang, Shujin Qin, Liang Qi, Bin Hu and Yingjun Ji
Mathematics 2025, 13(5), 880; https://doi.org/10.3390/math13050880 - 6 Mar 2025
Viewed by 813
Abstract
Optimizing multi-factory remanufacturing systems with social welfare considerations presents critical challenges in task allocation and process coordination. This study addresses this gap by proposing a hybrid disassembly line balancing and multi-factory remanufacturing process optimization problem, considering workers with government benefits. A mixed-integer programming [...] Read more.
Optimizing multi-factory remanufacturing systems with social welfare considerations presents critical challenges in task allocation and process coordination. This study addresses this gap by proposing a hybrid disassembly line balancing and multi-factory remanufacturing process optimization problem, considering workers with government benefits. A mixed-integer programming model is formulated to maximize profit, and its correctness is verified using the CPLEX solver. Furthermore, a discrete zebra optimization algorithm is proposed to solve the model, integrating a survival-of-the-fittest strategy to improve its optimization capabilities. The effectiveness and convergence of the algorithm are demonstrated through experiments on disassembly cases, with comparisons made to six peer algorithms and CPLEX. The experimental results highlight the importance of this research in improving resource utilization efficiency, reducing environmental impacts, and promoting sustainable development. Full article
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25 pages, 7825 KB  
Article
A New Hjorth Distribution in Its Discrete Version
by Hanan Haj Ahmad and Ahmed Elshahhat
Mathematics 2025, 13(5), 875; https://doi.org/10.3390/math13050875 - 6 Mar 2025
Cited by 5 | Viewed by 642
Abstract
The Hjorth distribution is more flexible in modeling various hazard rate shapes, including increasing, decreasing, and bathtub shapes. This makes it highly useful in reliability analysis and survival studies, where different failure rate behaviors must be captured effectively. In some practical experiments, the [...] Read more.
The Hjorth distribution is more flexible in modeling various hazard rate shapes, including increasing, decreasing, and bathtub shapes. This makes it highly useful in reliability analysis and survival studies, where different failure rate behaviors must be captured effectively. In some practical experiments, the observed data may appear to be continuous, but their intrinsic discreteness requires the development of specialized techniques for constructing discrete counterparts to continuous distributions. This study extends this methodology by discretizing the Hjorth distribution using the survival function approach. The proposed discrete Hjorth distribution preserves the essential statistical characteristics of its continuous counterpart, such as percentiles and quantiles, making it a valuable tool for modeling lifetime data. The complexity of the transformation requires numerical techniques to ensure accurate estimations and analysis. A key feature of this study is the incorporation of Type-II censored samples. We also derive key statistical properties, including the quantile function and order statistics, and then employ maximum likelihood and Bayesian inference methods. A comparative analysis of these estimation techniques is conducted through simulation studies. Furthermore, the proposed model is validated using two real-world datasets, including electronic device failure times and ball-bearing failure analysis, by applying goodness-of-fit tests against alternative discrete models. The findings emphasize the versatility and applicability of the discrete Hjorth distribution in reliability studies, engineering, and survival analysis, offering a robust framework for modeling discrete data in practical scenarios. To our knowledge, no prior research has explored the use of censored data in analyzing discrete Hjorth-distributed data. This study fills this gap, providing new insights into discrete reliability modeling and broadening the application of the Hjorth distribution in real-world scenarios. Full article
(This article belongs to the Special Issue New Advances in Distribution Theory and Its Applications)
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14 pages, 457 KB  
Article
Proportional Log Survival Model for Discrete Time-to-Event Data
by Tiago Chandiona Ernesto Franque, Marcílio Ramos Pereira Cardial and Eduardo Yoshio Nakano
Mathematics 2025, 13(5), 800; https://doi.org/10.3390/math13050800 - 27 Feb 2025
Viewed by 522
Abstract
The aim of this work is to propose a proportional log survival model (PLSM) as a discrete alternative to the proportional hazards (PH) model. This paper presents the formulation of PLSM as well as the procedures for verifying its assumption. The parameters of [...] Read more.
The aim of this work is to propose a proportional log survival model (PLSM) as a discrete alternative to the proportional hazards (PH) model. This paper presents the formulation of PLSM as well as the procedures for verifying its assumption. The parameters of the PLSM are inferred using the maximum likelihood method, and a simulation study was carried out to investigate the usual asymptotic properties of the estimators. The PLSM was illustrated using data on the survival time of leukemia patients, and it was shown to be a viable alternative for modeling discrete survival data in the presence of covariates. Full article
(This article belongs to the Section D1: Probability and Statistics)
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37 pages, 3801 KB  
Article
Migraine Genetic Susceptibility Does Not Strongly Influence Migraine Characteristics and Outcomes in a Treated, Real-World, Community Cohort
by Bruce A. Chase, Roberta Frigerio, Susan Rubin, Irene Semenov, Steven Meyers, Angela Mark, Thomas Freedom, Revital Marcus, Rima Dafer, Jun Wei, Siqun L. Zheng, Jianfeng Xu, Ashley J. Mulford, Alan R. Sanders, Anna Pham, Alexander Epshteyn, Demetrius Maraganore and Katerina Markopoulou
J. Clin. Med. 2025, 14(2), 536; https://doi.org/10.3390/jcm14020536 - 16 Jan 2025
Viewed by 1061
Abstract
Background/Objectives: Migraine is a common neurological disorder with highly variable characteristics. While genome-wide association studies have identified genetic risk factors that implicate underlying pathways, the influence of genetic susceptibility on disease characteristics or treatment response is incompletely understood. We examined the relationships [...] Read more.
Background/Objectives: Migraine is a common neurological disorder with highly variable characteristics. While genome-wide association studies have identified genetic risk factors that implicate underlying pathways, the influence of genetic susceptibility on disease characteristics or treatment response is incompletely understood. We examined the relationships between a previously developed standardized integrative migraine polygenic genetic risk score (PRS) and migraine characteristics in a real-world, treated patient cohort. Methods: This retrospective cohort study used covariate-adjusted regression to comprehensively evaluate associations between the PRS and clinical characteristics in 1653 treated migraine cases with European ancestry at baseline and, in 800 cases, after one year. Cases were deeply phenotyped by neurologists during extensive interviews, using structured clinical documentation tools to record ~200 discrete data elements. Results: In treated patients, higher standardized PRS showed associations with two common migraine symptoms: photophobia (odds ratio [confidence interval]: 1.33 [1.13–1.56], p = 0.001) and stabbing pain (1.21 [1.08–1.36], p = 0.001]; both retained significance at Q = 0.05. Associations with phonophobia, nausea, emesis, and unilateral headache had similar effect sizes but did not survive correction for multiple tests. In this population, the PRS was not associated with other symptoms of migraine attacks, objective measures of migraine disability, frequency, severity, average duration, time-to-peak intensity of migraine attacks, chronification, emergency department visits, triptan responsiveness, or changes at follow-up. Conclusions: In treated patients, genetic risk was associated with common migraine symptoms but not with the severity of migraine characteristics or treatment outcomes. This suggests that in treated patients, other genetic and non-genetic factors influence migraine symptom severity and disease course more strongly than genetic susceptibility. Full article
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