Results 31 to 40 of about 42,113 (251)

Improved Muscle Function in Duchenne Muscular Dystrophy through L-Arginine and Metformin: An Investigator-Initiated, Open-Label, Single-Center, Proof-Of-Concept-Study. [PDF]

PLoS ONE, 2016
Altered neuronal nitric oxide synthase function in Duchenne muscular dystrophy leads to impaired mitochondrial function which is thought to be one cause of muscle damage in this disease.
Patricia Hafner, Ulrike Bonati, Beat Erne, Maurice Schmid, Daniela Rubino, Urs Pohlman, Thomas Peters, Erich Rutz, Stephan Frank, Cornelia Neuhaus, Stefanie Deuster, Monika Gloor, Oliver Bieri, Arne Fischmann, Michael Sinnreich, Nuri Gueven, Dirk Fischer   +16 more
doaj   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
wiley   +1 more source

Digital Activity Markers in Chronic Inflammatory Demyelinating Polyneuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the utility of smartwatch and smartphone‐based activity metrics for assessing disease severity and quality of life in patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods In the electronic monitoring of disease activity in patients with CIDP (EMDA‐CIDP) trial, we performed a prospective ...
Lars Masanneck, Jan Voth, Noëmi Gmahl, Konstantin Jendretzky, Niklas Huntemann, Noah M. Werner, Linea Schmidt, Menekse Oeztuerk, Paula Quint, Christina B. Schroeter, Hans Peter Hartung, Thomas Skripuletz, Gerd Meyer zu Hörste, Tobias Ruck, Sven G. Meuth, Marc Pawlitzki   +15 more
wiley   +1 more source

Exploring AAV‐Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential

Advanced Science, EarlyView.
Current preclinical studies of AAV‐mediated gene therapy explore different strategies based on the characteristics of inner ear diseases. For genetic hearing loss, approaches include the replacement of a “good gene,” removal of a “bad gene,” or direct correction of mutations through base editing.
Fan Wu, Wuhui He, Yun Xiao, Qiong Wu, Qing Zhang, Tiesong Zhang, Lei Xu, Xinyi Pang   +7 more
wiley   +1 more source

A Roadmap to Newborn Screening for Duchenne Muscular Dystrophy

International Journal of Neonatal Screening, 2017
Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy, with an estimated frequency of 1:5000 live births. The impact of the disease presents as early as infancy with significant developmental delays, and ultimately ...
Samiah A. Al-Zaidy, Michele Lloyd-Puryear, Annie Kennedy, Veronica Lopez, Jerry R. Mendell   +4 more
doaj   +1 more source

Choroid Plexus Fibroblast–ILC2 Niche Promotes Adult Hippocampal Neurogenesis after Traumatic Brain Injury

Advanced Science, EarlyView.
This study investigates the role of group 2 innate lymphoid cells (ILC2) in the choroid plexus (ChP) following traumatic brain injury (TBI). ILC2 accumulation alleviates immune infiltration, preserves hippocampal integrity, and improves sensory‐motor and memory functions.
Shiqi Gao, Xiaoming Guo, Sixuan Tian, Huaping Huang, Caidi Ying, Junjie Wang, Jiahao Zhang, Jun Lin, Anwen Shao, Jingyu Wang, Yuan Hong   +10 more
wiley   +1 more source

Alistipes senegalensis is Critically Involved in Gut Barrier Repair Mediated by Panax Ginseng Neutral Polysaccharides in Aged Mice

Advanced Science, EarlyView.
An integral functional axis through which GPN and functional metabolites of Alistipes senegalensis can hydrolyze tryptophan into indoles. Furthermore, the Alistipes senegalensis‐indole‐AhR pathway is found to be associated with increased expression of tight junction‐associated proteins and activation of gut stem cells.
Dandan Wang, Hui Wang, Yingna Li, Jing Lu, Xiaolei Tang, Dan Yang, Manying Wang, Daqing Zhao, Fangbing Liu, Shuai Zhang, Liwei Sun   +10 more
wiley   +1 more source

Septic shock secondary to an acute necrotizing community-acquired pneumonia with bacteremia due to Pseudomonas aeruginosa

IDCases, 2019
Pseudomonas aeruginosa is an uncommon cause of necrotizing acute community-acquired pneumonia (CAP). Only thirteen cases have been previously reported in the literature.
P. Riviere, D. Patin, E. Delaporte, H. Mahfoudi, S. Lecailtel, F. Poher, P. Villette, J. Duclaux, P. Jouault, G. Brunin   +9 more
doaj  

Epidemiology and healthcare resource utilisation associated with Duchenne muscular dystrophy

Journal of Rare Diseases
Background This study aimed to describe the prevalence of Duchenne muscular dystrophy (DMD) and associated healthcare resource utilisation and costs from an England perspective.
Christopher Llewellyn Morgan, Josie Godfrey, Fleur Chandler, Emily Reuben, Craig J. Currie   +4 more
doaj   +1 more source