Results 61 to 70 of about 77,106 (331)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Metabolic Dysfunction in Spinal Muscular Atrophy

International Journal of Molecular Sciences, 2021
Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide treatment and gene therapy have made it possible for SMA patients to benefit from ...
M. Deguise, Lucia Chehadé, R. Kothary
semanticscholar   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
wiley   +1 more source

Weight-Loss Cognitive-Behavioural Treatment and Essential Amino Acid Supplementation in a Patient with Spinal Muscular Atrophy and Obesity

Case Reports in Medicine, 2018
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave   +3 more
doaj   +1 more source

Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol

Хирургия позвоночника, 2020
Objective. To substantiate the protocol for the diagnosis and treatment of deformities of the spine and limbs in patients with spinal muscular atrophy basing on an assessment of the level of evidence of published data. Material and Methods.
Sergey O. Ryabykh, Dmitry M. Savin, Egor Yu. Filatov, Svetlana N. Medvedeva, Anastasia N. Tretjakova, Dmitry A. Popkov, Tatyana V. Ryabykh, Elena N. Shchurova, Marat S. Saifutdinov   +8 more
doaj   +1 more source

Engineering the Future of Restorative Clinical Peripheral Nerve Surgery

Advanced Healthcare Materials, EarlyView.
What if damaged nerves could regenerate more effectively? This review unveils cutting‐edge strategies to restore nerve function, from biomaterial scaffolds and bioactive molecules to living engineered tissues. By accelerating axonal regrowth, preserving Schwann cells, and enhancing connectivity, these approaches are reshaping nerve repair—offering new ...
Justin C. Burrell, Zarina S. Ali, Eric L. Zager, Joseph M. Rosen, Mykhailo M. Tatarchuk, D. Kacy Cullen   +5 more
wiley   +1 more source

Natural history of lung function in spinal muscular atrophy

Orphanet Journal of Rare Diseases, 2020
Background Respiratory muscle weakness is an important feature of spinal muscular atrophy (SMA). Progressive lung function decline is the most important cause of mortality and morbidity in patients.
C. Wijngaarde, E. Veldhoen, R. V. van Eijk, M. Stam, L. Otto, F. Asselman, R. W. Wösten-van Asperen, E. Hulzebos, Laura P. Verweij-van den Oudenrijn, B. Bartels, I. Cuppen, R. Wadman, Leonard H. van den Berg, C. K. van der Ent, W. L. van der Pol   +14 more
semanticscholar   +1 more source

Aging on Chip: Harnessing the Potential of Microfluidic Technologies in Aging and Rejuvenation Research

Advanced Healthcare Materials, EarlyView.
This review highlights recent advances in microfluidic technologies for modeling human aging and age‐related diseases. It explores how organ‐on‐chip platforms improve physiological relevance, enable rejuvenation strategies, facilitate drug screening, detect senescent cells, and identify biomarkers.
Limor Zwi‐Dantsis, Vignesh Jayarajan, George M. Church, Roger D. Kamm, João Pedro de Magalhães, Emad Moeendarbary   +5 more
wiley   +1 more source

Therapeutic Implants: Mechanobiologic Enhancement of Osteogenic, Angiogenic, and Myogenic Responses in Human Mesenchymal Stem Cells on 3D‐Printed Titanium Truss

Advanced Healthcare Materials, EarlyView.
This study investigates a synergistic effect between 3D‐printed surface features and mechanical micro‐strain in enhancing the osteogenic, angiogenic, and myogenic responses of human mesenchymal stem cells (hMSCs). Load‐induced mechanotransduction, facilitated by the implant's architectural design, significantly amplifies hMSC differentiation.
Se‐Hwan Lee, Ali Kiapour, Brendan D. Stoeckl, Ellen Y. Zhang, Matthew R. Begley, Jarod Oldham, Lewis Harrison, Jessee Hunt, Robert L. Mauck, Su Chin Heo   +9 more
wiley   +1 more source

From Mechanoelectric Conversion to Tissue Regeneration: Translational Progress in Piezoelectric Materials

Advanced Materials, EarlyView.
This review highlights recent progress in piezoelectric materials for regenerative medicine, emphasizing their ability to convert mechanical stimuli into bioelectric signals that promote tissue repair. Key discussions cover the intrinsic piezoelectric properties of biological tissues, co‐stimulation cellular mechanisms for tissue regeneration, and ...
Xinyu Wang, Sílvio Terra Stefanello, Victor Shahin, Yun Qian   +3 more
wiley   +1 more source