Results 11 to 20 of about 1,366 (223)

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

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

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Continuum Robots in Surgery: From Engineering Design to Clinical Practice

Advanced Robotics Research, EarlyView.
The hyper‐redundant nature of continuum robot structures enables near‐infinite degrees of freedom leading to immense potential for medical applications. This review provides a historical background of continuum robots and novel ideas shaping their progress to current structural design, sensing technology, modeling techniques, and control methods.
Griffin Smith, Kaitlyn Clancy, Siwen Xie, Xiaochen Li, Sarah Khalife, Benjamin van der Woerd, Onaizah Onaizah   +6 more
wiley   +1 more source

A Transnasal Endoscope for Robotically Assisted Gastroscopy

Advanced Robotics Research, EarlyView.
This work introduces a 4.25 mm diameter magnetically navigated transnasal endoscope for upper gastrointestinal (GI) screening and intervention. The system enables precise remote steering throughout the upper GI tract and is demonstrated through in vitro and in vivo experiments, including the robotic execution of preprogrammed retroflexions, trans ...
Alexandre Mesot, Michelle Mattille, Sean Lyttle, Shannon M. Chan, Philip W. Y. Chiu, Quentin Boehler, Bradley J. Nelson   +6 more
wiley   +1 more source

Advanced Flexible Robotic Systems for the Early Diagnosis and Treatment of Cancer and Cardiovascular Diseases

Advanced Robotics Research, EarlyView.
Flexible surgical robots are advancing minimally invasive interventions for cardiovascular diseases and cancer by enabling precise navigation through complex, submillimeter anatomical pathways. This review highlights recent innovations in actuation, bio‐integrated sensing, AI‐assisted control, and friction‐reduction technologies, discusses current ...
Hermione Truong, Chi Cong Nguyen, Hannah Thuy Truong, Kefan Zhu, Adrienne Ji, James Davies, Emanuele Nicotra, Bibhu Sharma, Jingjing Wan, Patrick Pruscino, Shing Wai Wong, Hoang‐Phuong Phan, Phuoc Thien Phan, Nigel H. Lovell, Thanh Nho Do   +14 more
wiley   +1 more source

Review of Gastrointestinal Capsule Robots: Materials, Actuation, Diagnostics, and Therapeutics

Advanced Science, EarlyView.
This review examines gastrointestinal capsule robots through a systems engineering lens, covering shell materials, actuation and localization strategies, diagnostic modalities, therapeutic interventions, and commercialization status. By mapping the complete technological chain from fabrication to clinical deployment, this work identifies critical gaps ...
Zengsheng Li, Zhongguo Ren, Yiliang Lin, Xianfeng Xia, Tianlong Li, Kai Fung Chan, Philip Wai Yan Chiu, Wei Peng Yong, Mengmeng Sun   +8 more
wiley   +1 more source

Application and Single‐Cell Regulation Mechanism of Engineered EVs Combined With 4D‐Printed Hydrogel for Infected Burn Repair

Advanced Science, EarlyView.
4D bioprinted hydrogel loaded with FGF2‐modified extracellular vesicles (4D@F‐EVs) targets dermal fibroblasts and elevates local wound FGF2 levels via sustained release of F‐EVs. It activates PI3K‐Akt signaling, restores critical KGF+ fibroblast–KGFR+ keratinocyte crosstalk, enhances robust angiogenesis and collagen deposition to efficiently repair ...
Xiaomin Wang, Xiaoyan Li, Xiao Xu, Kelun Zhang, Fengjiao Yu, Zhen Shang, Nailong Pan, Junlin Lv, Yiwei Xu, Yan Tang, Liang Zhang, Xiaotong Li, Taoyi Wang, Jing Tao, Jiaxu Song, Mengyu Zhang, Xin Ma, Dan Han, Xiaoying Kong, Wenhua Xu   +19 more
wiley   +1 more source

Isocyanate‐Modified Melatplatin(IV) Enhances Antitumor Efficacy via TCF4/COL6A3‐Mediated Extracellular Matrix Remodeling and cGAS‐STING Pathway Activation in Bladder Cancer

Advanced Science, EarlyView.
A series of melatonin‐conjugated platinum(IV) prodrugs was functionalized with isocyanate chains (compounds 5‒12). MP‐12C (compound 11) was identified as the lead candidate, with optimal potency and safety. MP‐12C exhibited greater efficacy than cisplatin by increasing intracellular uptake, reshaping the extracellular matrix, activating the cGAS‐STING ...
Linhui Wang, Xiaomeng Liu, Tao Zhu, Zirun Su, Ruiping Liu, Zhe Li, Kaixuan Du, Kaipeng Jia, Chong Fu, Yuda Lin, Zihan Xue, Zhe Zhang, Chong Shen, Yunkai Qie, Zhouliang Wu, Zhiheng Liu, Kangkang Liu, Jingyuan Xu, Hailong Hu   +18 more
wiley   +1 more source