Results 51 to 60 of about 357,617 (265)

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

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 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

Mycophenolate Mofetil Treatment Reduces the Risk of Treatment Escalation Due to Vascular Complications in Limited Cutaneous Systemic Sclerosis: Emulation of a Target Trial From the Italian Rheumatology Society SPRING Registry

Arthritis Care &Research, EarlyView.
Objective Mycophenolate mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon because of the lower fibrotic burden and the predominance of vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis, Gerlando Natalello, Rossella De Angelis, Lucrezia Verardi, Dilia Giuggioli, Gianluigi Bajocchi, Lorenzo Dagna, Silvia Bellando‐Randone, Giovanni Zanframundo, Rosario Foti, Fabio Cacciapaglia, Giovanna Cuomo, Alarico Ariani, Edoardo Rosato, Gemma Lepri, Francesco Girelli, Valeria Riccieri, Elisabetta Zanatta, Ilaria Cavazzana, Francesca Ingegnoli, Maria De Santis, Giuseppe Murdaca, Giuseppina Abignano, Giorgio Pettiti, Alessandra Della Rossa, Maurizio Caminiti, Annamaria Iuliano, Giovanni Ciano, Lorenzo Beretta, Gianluca Bagnato, Ennio Lubrano, Maria Ilenia De Andres, Alessandro Giollo, Cosimo Bruni, Martina Orlandi, Marco Fornaro, Marta Saracco, Cecilia Agnes, Pier Giacomo Cerasuolo, Gabriella Alonzi, Edoardo Cipolletta, Federica Lumetti, Amelia Spinella, Luca Magnani, Corrado Campochiaro, Giacomo De Luca, Veronica Codullo, Elisa Visalli, Carlo Iandoli, Antonietta Gigante, Greta Pellegrino, Erika Pigatto, Maria‐Grazia Lazzaroni, Franco Franceschini, Elena Generali, Gianna Mennillo, Simone Barsotti, Giuseppa Pagano Mariano, Federica Furini, Licia Vultaggio, Simone Parisi, Clara Lisa Peroni, Gerolamo Bianchi, Enrico Fusaro, Gian Domenico Sebastiani, Marcello Govoni, Salvatore D'Angelo, Franco Cozzi, Fabrizio Conti, Serena Guiducci, Andrea Doria, Carlo Salvarani, Florenzo Iannone, Maria Antonietta D'Agostino, Clodoveo Ferri, Marco Matucci Cerinic, Silvia Laura Bosello, on behalf of the SPRING Italian Registry Collaborators   +77 more
wiley   +1 more source

Intelligent Orthopedics: Machine Learning in Diagnosis of Bone Disease, Implants, and Bone Health Monitoring

Advanced Healthcare Materials, EarlyView.
Efficient recovery from traumatic or degenerative diseases is a great challenge, even after all the advancements in bone and cartilage regeneration. Machine learning (ML) algorithms have presented opportunities to enhance these aspects by accurately analyzing imaging data.
Maryam Kamaei, Hesam Mohammadi, Shamim Golafshan, Mojtaba Alehosseini, Mahsa Mohammadzadeh, Atefeh Golshirazi, Nasim Golafshan, Tatiane Eufrásio‐da‐Silva, Alireza Dolatshahi‐Pirouz, Gorka Orive   +9 more
wiley   +1 more source

A Superlubricated Magnetically Steerable Microcatheter with Integrated Optical and Fluidic Channels

Advanced Robotics Research, EarlyView.
A magnetically steerable microcatheter with integrated optical and fluidic channels is developed for multifunctional navigation in tortuous anatomical environments. A surface‐grafted hydrogel coating enables low‐friction actuation. The device demonstrates stable light and fluid delivery during magnetic manipulation, offering a compact platform for ...
Yuntian Du, Ruokun He, Luqi Li, Hesheng Wang, Zhuo‐Chen Ma, Bing Han   +5 more
wiley   +1 more source

Stromal‐Derived IL‐8 Promotes M2 Macrophage Polarization via the RhoA/MRTF‐A/SRF Transcriptional Axis to Impair CD8+ T Cell Cytotoxicity in Lung Cancer

Advanced Science, EarlyView.
In the recondite pulmonary neoplastic milieu, DESMIN+ cancer‐associated fibroblasts function as the paramount stromal source of IL‐8, precipitating a deleterious immunological metamorphosis by engaging CXCR2 receptors on the myeloid lineage. This paracrine stimulus triggers a mechanotransduction cascade characterized by RhoA‐dependent actin ...
Xuyu Gu, Qiyu Fang, Jia Yu, Ting Yu, Huashan Shi, Kaiqi Jin, Lei Jiang, Wentian Zhang   +7 more
wiley   +1 more source

Canagliflozin Alleviates Diabetic Glomerular Endothelial Injury via Melibiose in a Microbiota‐Dependent Manner

Advanced Science, EarlyView.
Canagliflozin treatment reshapes the gut microbiota in DKD and elevates levels of melibiose, a metabolite derived from Roseburia intestinalis. Melibiose directly binds to and enhances the enzymatic activity of glyoxalase 1, leading to decreased methylglyoxal accumulation.
Wei Zhang, Yi Song, Changkun Li, Yuanyuan Luo, Mingwei Shao, Feng Guo, Fangyi Wei, Xunjie Fan, Wenwen Guo, Fengmei Xu, Yanhong Sang, Dongming Zhang, Yanhong Zhou, Lianwei Wang, Zhiqiang Kang, Yingjun Yang, Chunhua Song, Yanxia Liu, Xiaojun Ma, Jiao Wang, Chong Li, Shengnan Ma, Lin Zhao, Zhi Qin, Guolan Xing, Qiubo Zhao, Jun Li, Shumin Song, Dan Zhao, Ting Huang, Qingzhu Wang, Yanyan Zhao, Guijun Qin   +32 more
wiley   +1 more source

Mitigating Cancer Therapy–Related Cognitive Impairment by Targeted Activation of Undruggable Phosphatase

Advanced Science, EarlyView.
An RVG‑engineered exosomal saRNA delivery system (RVG‑EVs‑saPtpro) effectively targets and activates hippocampal PTPRO, functioning as a “molecular brake” to alleviate cancer therapy‑related cognitive impairment (CTRCI) by enhancing neuronal survival, neurogenesis, and synaptic plasticity.
Zhimeng Yao, Yuhua Meng, Huanyi Li, Yinhui Jiang, Xiaona Lin, Mengyuan Hu, Qing Liu, Xiaofu Qiu, Hongzheng Ren, Yunlong Pan, Bin Pan, Zexiong Guo, Shuyao Zhang, Dianzheng Zhang, Li Yang, Shegan Gao, Weijing Deng, Jianfan Chen, Hao Zhang   +18 more
wiley   +1 more source

Engineering Immunoregenerative Therapy via an Immunomodulatory Binary Pharmacology Hydrogel Depot for Prolonged Allograft Survival

Advanced Science, EarlyView.
An immunomodulatory hydrogel (iGEL) forms spontaneously upon subcutaneous injection, acting as a tissue‐adhesive depot. It releases anti‐rejection and regenerative agents in response to inflammation, suppressing T‐cell activity, promoting vascular repair, and restoring allograft function without systemic immunosuppression.
Ning Wang, Ruiqi Sun, Yang Fu, Zhonghan Wu, Xinyu Tong, Hong Tang, Wentao Zhao, Zhi Liang, Jintao Zheng, Yanan Guan, Ke Zhou, Penghong Song, Shusen Zheng, Hangxiang Wang, Haiyang Xie   +14 more
wiley   +1 more source