Results 91 to 100 of about 98,319 (259)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Interpretable Machine Learning for Developmental Disability Diagnosis: An Adaptive Neuro-fuzzy

Journal of Disability Research
This study addresses a critical challenge in pediatric healthcare: the prolonged 2- to 3-year diagnostic timeline for developmental disabilities from initial concern to confirmation.
Rayan Alanazi, Adel Saber Alanazi, Houcine Benlaria   +2 more
doaj   +1 more source

Diagnostic decision support by inference networks.

In vivo (Athens, Greece), 1993
Inference networks permit the combining of diagnostic evidence in such a fashion that the mutual dependence structure of different pieces of evidence is considered, and that a probabilistic measure of the uncertainty of the final diagnostic decision is provided.
P H, Bartels, D, Thompson, J E, Weber
openaire   +1 more source

Statistical inference for exploratory data analysis and model diagnostics

Philosophical Transactions of the Royal Society A: Mathematical, Physical and Engineering Sciences, 2009
We propose to furnish visual statistical methods with an inferential framework and protocol, modelled on confirmatory statistical testing. In this framework, plots take on the role of test statistics, and human cognition the role of statistical tests. Statistical significance of ‘discoveries’ is measured by having the human viewer compare the plot of ...
Buja, Andreas, Cook, Dianne, Hofmann, Heike, Lawrence, Michael, Lee, Eun-Kyung, Swayne, Deborah F, Wickham, Hadley   +6 more
openaire   +4 more sources

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini, Alessia Casarini, Niccolò Biagioli, Laura Mirandola, Daniela Ballotta, Paul Summers, Simona Scolastico, Laura Madrassi, Maurilio Genovese, Marcella Malagoli, Gaetano Cantalupo, Giada Giovannini, Matteo Pugnaghi, Niccolò Orlandi, Laura Tassi, Valeria Cuccarini, Domenico Aquino, Elena Tartara, Fulvia Palesi, Giuseppe Didato, Paolo Vitali, the 3TLE Study Group, Roberta Di Giacomo, Fabio Doniselli, Federica Mazzi, Carlo Andrea Galimberti, Claudia A. M. Gandini Wheeler‐Kingshott, Stefano Meletti, Anna Elisabetta Vaudano   +28 more
wiley   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Misclassification of Diabetes Mellitus in Resource‐Limited Settings: A Case Study and Clinical Review

Clinical Case Reports
Recent refinements to diabetes classification frameworks have inadvertently complicated the diagnostic process, particularly in resource‐limited settings. This case demonstrates that meticulous phenotyping, judicious selection of feasible investigations,
Issakwisa Mwakyula, Gloria Mbwile, David Nassoro   +2 more
doaj   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Fault Point Search with Obstacle Avoidance for Machinery Diagnostic Robots Using Hierarchical Fuzzy Logic Control

Sensors
Higher requirements have been placed on fault detection for continuously operating machines in modern factories. Manual inspection faces challenges related to timeliness, leading to the emergence of autonomous diagnostic robots.
Rui Mu, Ryojun Ikeura, Hongtao Xue, Chengxiang Zhao, Peng Chen   +4 more
doaj   +1 more source