Results 111 to 120 of about 1,097,686 (283)
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Enhancing Human Identification Systems Through Bi-modal Fusion Using Negative Selection Algorithm
The Negative Selection Algorithm (NSA) is a computational technique inspired by the human immune system and widely used in various fields like intrusion detection, network security, data mining, and pattern recognition.
Monsurat O. Balogun +2 more
doaj
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han +8 more
wiley +1 more source
Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons +33 more
wiley +1 more source
Objective There is growing interest in evaluating new strategies to delay or prevent posttraumatic osteoarthritis (PTOA) in individuals who have sustained anterior cruciate ligament (ACL) injury. This study sought to determine characteristics of potential treatments that are acceptable to patients with ACL injury. Methods Participants with a history of
Kevin Kennedy +9 more
wiley +1 more source
High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello +5 more
wiley +1 more source
Immune Approach in Network Anomaly Detection Problem
In this paper authors propose an approach of applying the algorithm of negative selection to detect anomalies in network traffic data obtained by means of protocol IPFIX.
M. R. Mukhtarov
doaj
A Robust Adaptive One‐Sample‐Ahead Preview Super‐Twisting Sliding Mode Controller
Block Diagram of the Robust Adaptive One‐Sample‐Ahead Preview Super‐Twisting Sliding Mode Controller. ABSTRACT This article introduces a discrete‐time robust adaptive one‐sample‐ahead preview super‐twisting sliding mode controller. A stability analysis of the controller by Lyapunov criteria is developed to demonstrate its robustness in handling both ...
Guilherme Vieira Hollweg +5 more
wiley +1 more source
Predicting extreme defects in additive manufacturing remains a key challenge limiting its structural reliability. This study proposes a statistical framework that integrates Extreme Value Theory with advanced process indicators to explore defect–process relationships and improve the estimation of critical defect sizes. The approach provides a basis for
Muhammad Muteeb Butt +8 more
wiley +1 more source

