Results 91 to 100 of about 73,717 (264)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

The Price of Precision: A Critical Review of Molecular Diagnostics in Glioma, From Guidelines to Global Disparities

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

miR-12135 ameliorates liver fibrosis accompanied with the downregulation of integrin subunit alpha 11

iScience
Summary: Cirrhosis is becoming one of the most common diseases worldwide. Abnormal upregulation of transforming growth factor β (TGF-β) signaling plays a pivotal role in the excess activation of hepatic stellate cells.
Motofumi Kumazoe, Emi Miyamoto, Chihiro Oka, Miyuki Kondo, Ren Yoshitomi, Hiroaki Onda, Yu Shimada, Yoshinori Fujimura, Hirofumi Tachibana   +8 more
doaj   +1 more source

Air‐Pressure–Actuated Vibroacoustic Metamaterial With Tunable Bandgap: Design, Modeling, and Characterization

Advanced Engineering Materials, EarlyView.
This article presents the design, modeling, and characterization of air‐pressure–actuated programmable vibroacoustic metamaterials (PVAMM). The study focuses on leveraging air pressure to dynamically tune resonance frequencies for effective noise attenuation.
William Kaal, Michael M. Becker, Sarah C. L. Fischer   +2 more
wiley   +1 more source

Comparison of Triply Periodic Minimal Surface Energy Absorbers Under Uniaxial Compressive Loading

Advanced Engineering Materials, EarlyView.
This study investigates LCD 3D printed Triply Periodic Minimal Surface (TPMS) structures as mechanical energy absorbers. By comparing various base designs and layered combinations under uniaxial compression, it identifies that a Diamond‐Gyroid sandwich structure offers superior performance.
Sergej Grednev, Noah‐Lean Roschlaub, Anne Jung   +2 more
wiley   +1 more source

Enhanced Ultrasound Transmission Through Aberration Layers Using Space‐Coiling Acoustic Metamaterials

Advanced Engineering Materials, EarlyView.
Enhancing ultrasound transmission through an aberration layer exhibiting mismatched impedance with the surrounding medium possesses great implications in imaging and treatment. In this study, we show that a space‐coiling acoustic metamaterial with judiciously tailored structural profile can help improve impedance matching.
Maral Ghanami, Hengzhe Ren, Erqian Dong, Ashkan Ghanbarzadeh‐Dagheyan, Chen Shen   +4 more
wiley   +1 more source

Adaptive Foam 3D Printing of Ultralight and Multifunctional Materials

Advanced Engineering Materials, EarlyView.
Adaptive foam 3D printing, enabled by expandable microspheres, imparts cellular structures to thermoplastic and thermosetting polymers, manufactured through a variety of processes including fused filament fabrication, direct ink writing, digital light processing, and inkjet printing.
Nariman Rajabifar, Amir Ameli
wiley   +1 more source

Self‐Cleaning Sensor Surfaces for Long‐Term Environmental Monitoring

Advanced Engineering Materials, EarlyView.
Long‐term use of unattended outdoor sensors without soiling or biofouling is achieved through generation of a micro‐ and nanorough cuvette surface by combing hydrophobic nanoparticles with fluorinated polymers, crosslinked and surface‐attached through CHic chemistry. The coating demonstrates self‐cleaning behavior and prolonged outdoor stability, which
Sanam Kumari Rajak, Yasmina Frey, Ulrike Wallrabe, Oswald Prucker, Jürgen Rühe   +4 more
wiley   +1 more source