Results 51 to 60 of about 25,924 (270)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Enhancing Grasping Function with a Thermoresponsive Ionogel Adhesive Glove for Patients with Rheumatic Diseases

Advanced Science, EarlyView.
This study presents a novel portable grasp‐assist glove, weighing only 47 g. The glove integrates smart adhesive pads and a hands‐free control interface based on IMU, designed to aid rheumatic patients with impaired hand function. The system enables switchable adhesion with independent control and detection of user release intent.
Shiqiang Wang, Shiqing Liu, Jingfeng Zhang, Zhouyang Yu, Yifan Shao, Cong Zhao, Jiahong Ma, Xin Fu, Mengqi Yang, Lie Chen, Mingjie Liu, Li Wen   +11 more
wiley   +1 more source

The Short-Term Impact of Botulinum Neurotoxin-A on Muscle Morphology and Gait in Children with Spastic Cerebral Palsy

Toxins, 2022
Children with spastic cerebral palsy (SCP) are often treated with intramuscular Botulinum Neurotoxin type-A (BoNT-A). Recent studies demonstrated BoNT-A-induced muscle atrophy and variable effects on gait pathology. This group-matched controlled study in
Nicky Peeters, Eirini Papageorgiou, Britta Hanssen, Nathalie De Beukelaer, Lauraine Staut, Marc Degelaen, Christine Van den Broeck, Patrick Calders, Hilde Feys, Anja Van Campenhout, Kaat Desloovere   +10 more
doaj   +1 more source

A Wearable Soft Actuator for Directional Tactile Stimulation: Design and Testing

Advanced Intelligent Systems, EarlyView.
A wearable actuator able to produce directional tactile stimulation is obtained by embedding a planar shape memory spring in silicone matrix. The matrix is designed taking into account skin characteristics and leveraging its multifunctionality: it acts as a bias load, improves the thermal behavior of the spring and wearability.
Fabio Lazzari, Jacopo Romanò, Davide Faranna, Lorenzo Garavaglia, Francesco Volontè, Carlo Fanciulli, Simone Pittaccio   +6 more
wiley   +1 more source

Measuring muscle tone with isokinetic dynamometer technique in stroke patients

Biomedical Human Kinetics, 2019
Study aim: Increased muscle tone, a common consequence of stroke, has neural and non-neural components. Spasticity is related to the neural component. Non-neural resistance arises from passive stiffness.
Dehno Nasrin Salehi, Sarvestani Fahimeh Kamali, Shariat Abdolhamid, Jaberzadeh Shapour   +3 more
doaj   +1 more source

Spasticity Assessment Based on the Maximum Isometrics Voluntary Contraction of Upper Limb Muscles in Post-stroke Hemiplegia

Frontiers in Neurology, 2019
Background: The assessment of muscle properties is an essential prerequisite in the treatment of post-stroke patients with limb spasticity. Most existing spasticity assessment approaches do not consider the muscle activation with voluntary contraction ...
Hui Wang, Hui Wang, Pingao Huang, Pingao Huang, Xiangxin Li, Oluwarotimi Williams Samuel, Yun Xiang, Yun Xiang, Guanglin Li   +8 more
doaj   +1 more source

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

MUSCLE GROUP ISOLATION IN THE TREATMENT OF SPASTICITIES AND ATHETOSES [PDF]

Journal of the American Medical Association, 1912
"Muscle group isolation" is a term applied to a method devised by Schwab and Allison 1 for the treatment of athetoses and spasticities. "This implies the isolation of the muscle or group of muscles which are at fault in the production of contracture, deformity or athetosis." The isolation is accomplished by the injection of 80 per cent.
Earl B. Jewell, Lewis J. Pollock
openaire   +2 more sources

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Results of selective dorsal rhizotomy in the treatment of local spasticity of lower limb extremities

Ukrainian Neurosurgical Journal, 2015
Aim: To develop diagnostic methods and to improve procedure of the dorsal selective rhizotomy (DSR) in patients with the local spasticity of lower extremities.Materials and methods: DSR (L2-S1) were performed in 12 patients with incurable ...
Leonid Pichkur, Iuriy Iaminskiy, Yuriy Lontkovsky   +2 more
doaj   +1 more source