Results 11 to 20 of about 1,246 (221)

T2* Magnetic Resonance Imaging Uncovers Hemosiderin Burden in Pediatric Hemophilia: A Call for Sensitive Imaging Biomarkers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemophilic arthropathy remains the leading morbidity in hemophilia despite modern prophylaxis, and early joint damage may be missed by routine exams. This study explored T2* MRI as a noninvasive biomarker of hemosiderin deposition in pediatric hemophilia.
Jessica Garcia, Tarique Hussain, Jeanne Dillenbeck, Matthew Hammer, Annette von Drygalski, Guy Young, Ayesha Zia   +6 more
wiley   +1 more source

Comprehensive Assessment of Arterial, Tissue, and Venous Collaterals for Evaluating the Infarct Growth Rate: The Multimodal Collateral Score

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Collaterals are crucial factors that influence the infarct growth rate (IGR). We aimed to determine whether a comprehensive multimodal collateral score (MCS), incorporating collateral assessment at the arterial, tissue, and venous levels, is associated with functional independence and provides incremental prognostic value over ...
Giorgio Busto, Umberto Pensato, Ilaria Casetta, Giorgio U. Marcello, Angelo Barra, Anna Poggesi, Edoardo Carlesi, Sara Mancini, Andrea Ginestroni, Vittorio Miele, Alessandro Padovani, Andrea Morotti, Enrico Fainardi   +12 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Mimetic Core‐Sheath Silk Sutures with Superior‐Strength for Pain Management, Anti‐Infection and Wound Healing

Advanced Healthcare Materials, EarlyView.
ABSTRACT Sutures are crucial for tissue approximation and wound healing. Besides their strength limits requirement, they often fail to effectively address complications like infection and pain. Inspired by natural silk's “core‐sheath” structure, our suture features a wet‐spun core of n zinc‐fortified silk fibroin fibers (RSF‐Zn2+) after drawing with ...
Yi Peng, Kai Ma, Xiaoxiao Li, Xiaozhuo Wu, Yuezhou Zhang, Ying Luo, Chenxing Zhang, Wen Zhong, Chunjing Yu, Lin Lu, Malcolm Xing, Guozhong Lyu   +11 more
wiley   +1 more source

A Toolkit for Targeted Neuromodulation of Striatal Direct Pathway Neurons Rescues Parkinsonian Motor Deficits in Mice

Advanced Science, EarlyView.
An adeno‐associated virus (AAV) toolkit enables selective anatomical and functional targeting of striatal D1‐MSNs through retrograde transduction. Enhanced capsids and engineered enhancers drive robust transgene expression across murine and primate models.
Zexuan Hong, Yujing Zhang, Junjiao Zhang, Hanhe Liu, Qiwei Liu, Yanglei Li, Lixin Yang, Lixia Li, Zhongjie Liu, Zhen Yuan, Zhonghua Lu, Yefei Chen, Yuantao Li, Yuwu Jiang, Taian Liu   +14 more
wiley   +1 more source

Transferable Deep Reinforcement Learning With Edge‐Contour‐Depth Fusion for Autonomous Wireless Capsule Endoscopy Navigation

Advanced Science, EarlyView.
This study presents an anatomical landmark‐guided DRL framework for autonomous wireless capsule endoscopy navigation. Using a lightweight edge‐contour‐depth fusion module, it achieves over 97% coverage across diverse gastric anatomies. To ensure reliability, a two‐stage sim‐to‐real pipeline with an adaptive dynamic programming controller mitigates ...
Haoxuan Wu, Haitao Gao, Qingyang Liu, Sishen Yuan, Haiyang Fang, Mingwu Su, Baijia Liang, Yongzun Yang, Long Bai, Wenzhen Dong, Dihong Xie, Shijian Su, Jiewen Lai, Shing Shin Cheng, Zhen Li, Xiuli Zuo, Hongliang Ren   +16 more
wiley   +1 more source

Biodegradable Acoustic Targeting for Ultrasound‐Supported Gene Therapy (BATUS) in Glioblastoma

Advanced Science, EarlyView.
ABSTRACT Glioblastoma (GBM) remains one of the most challenging brain malignancies due to the restrictive nature of the blood–brain barrier (BBB), which severely limits effective drug and gene delivery. To overcome this, we introduce Biodegradable Acoustic Targeting for Ultrasound‐Supported Gene Therapy (BATUS), a modular platform that enables safe ...
Gulsah Erel‐Akbaba, Jinyoung Park, Achal Duhoon, Cao Thuy Giang Nguyen, Nitu Bhaskar, Sumanta Kumar Karan, Hasan Akbaba, Parbeen Singh, Thi Bao Tram Tran, Yuhui Zhu, Zhiming Li, I'jaaz Muhammad, Xiaojun Zhang, Hoang Quan Truong, A. Daniel Davidar, Elizabeth Schmitzer, Vikas N. Vattipally, Angelica F. Lopez, Patrick Kramer, Victor M. Quiroz, Ben Bykov, Claire Hao, Amir Manbachi, Nicholas Theodore, Joshua C. Doloff, Thanh D. Nguyen   +25 more
wiley   +1 more source