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Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables.
Diagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFMain Sequence of Human Luminance-evoked Pupil Dynamics.
J Cogn Neurosci
January 2025
Queen's University, Kingston, Ontario, Canada.
Pupil responses are commonly used to provide insight into visual perception, autonomic control, cognition, and various brain disorders. However, making inferences from pupil data can be complicated by nonlinearities in pupil dynamics and variability within and across individuals, which challenge the assumptions of linearity or group-level homogeneity required for common analysis methods. In this study, we evaluated luminance evoked pupil dynamics in young healthy adults (n = 10, M:F = 5:5, ages 19-25 years) by identifying nonlinearities, variability, and conserved relationships across individuals to improve the ability to make inferences from pupil data.
View Article and Find Full Text PDFValidation of polymorphic Gompertzian model of cancer through in vitro and in vivo data.
PLoS One
January 2025
Institute for Health Systems Science, Faculty of Technology, Policy and Management, Delft University of Technology, Delft, The Netherlands.
Mathematical modeling plays an important role in our understanding and targeting therapy resistance mechanisms in cancer. The polymorphic Gompertzian model, analyzed theoretically and numerically by Viossat and Noble to demonstrate the benefits of adaptive therapy in metastatic cancer, describes a heterogeneous cancer population consisting of therapy-sensitive and therapy-resistant cells. In this study, we demonstrate that the polymorphic Gompertzian model successfully captures trends in both in vitro and in vivo data on non-small cell lung cancer (NSCLC) dynamics under treatment.
View Article and Find Full Text PDFExpansion of stereotactic work envelope using transformation matrices and geometric algebra for neurosurgery.
Biomed Eng Lett
January 2025
NaviNetics, Inc, Rochester, MN USA.
Stereotactic systems have traditionally used Cartesian coordinate combined with linear algebraic mathematical models to navigate the brain. Previously, the development of a novel stereotactic system allowed for improved patient comfort, reduced size, and carried through a simplified interface for surgeons. The system was designed with a work envelope and trajectory range optimized for deep brain stimulation applications only.
View Article and Find Full Text PDFCross-cultural adaptation of the simple Chinese version of the medication adherence reasons scale in patients undergoing adjuvant endocrine therapy for breast cancer.
BMC Cancer
January 2025
Breast Surgery Department, Hangzhou Institute of Medicine, Zhejiang Cancer Hospital, Chinese Academy of Sciences, Hangzhou, Zhejiang, China.
Adjuvant endocrine therapy (AET) is essential for improving survival and reducing mortality and recurrence rates in breast cancer (BrCa) patients. However, the adherence to AET among BrCa patients is poor, and there is no scale to measure adherence to AET or the reasons for non-adherence among BrCa patients in mainland China. The aim of this study was to assess the psychometric properties of the simple Chinese version of the Medication Adherence Reasons (MAR) scale in BrCa patients undergoing AET.
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