Results 131 to 140 of about 121,688 (385)

Morphologic and functional correlates of synaptic pathology in the cathepsin D knockout mouse model of congenital neuronal ceroid lipofuscinosis [PDF]

, 2011
Mutations in the cathepsin D (CTSD) gene cause an aggressive neurodegenerative disease (congenital neuronal ceroid lipofuscinosis) that leads to early death. Recent evidence suggests that presynaptic abnormalities play a major role in the pathogenesis of
Andrew Edwards, Ann K. Wright, Belly, Cepeda, Garborg, Jaana Tyynelä, Jonathan D. Cooper, Klapstein, Koike, Sabine Koch, Saftig, Svetlana M. Molchanova, Thomas H. Gillingwater, Tomi Taira   +13 more
core   +1 more source

Wearable Bioelectronics for Home‐Based Monitoring and Treatment of Muscle Atrophy

Advanced Science, EarlyView.
As an inevitable disease, muscle atrophy has received more attention. Because the factors that induce this disease are diverse, achieving a complete cure is still impossible. Wearable bioelectronics provides a more comfortable, low‐cost, and efficient way of home care for the monitoring and treatment of muscle atrophy. Therefore, this review summarizes
Shuai Zhang, Renjie Tan, Shuo Meng, Ke Zhang, Jinlian Hu   +4 more
wiley   +1 more source

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. [PDF]

, 2015
Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay ...
Barshop, Bruce A, Baumgartner, Matthias R, Frazer, Kelly A, Hansen, John-Bjarne, Jepsen, Kristen, Shepard, Peter J, Smith, Erin N   +6 more
core   +1 more source

Nano‐Anesthetics Regulate Neuro‐Immune Interaction for Treating Neuropathic Pain

Advanced Science, EarlyView.
Ce‐UiO‐66‐Bupivacaine (CUB) demonstrates triple therapeutic innovation: 1) Sustained analgesia with ROS scavenging synergistically resolves neuropathic pain; 2) Microglia/astrocyte polarization switch reprograms the pro‐regenerative immune microenvironment; 3) CGRP‐TSP‐1 axis activation couples inflammation suppression to axon regeneration, defining a ...
Yue Wang, Xiuru Ji, Yu Sun, Han Wang, Ting Wang, Tao Luo, Yanyong Cheng, Jia Yan, Dalong Ni, Hong Jiang   +9 more
wiley   +1 more source

Considerations for repetitive intrathecal procedures in long-term nusinersen treatment for non-ambulatory spinal muscular atrophy

Scientific Reports
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder characterized by progressive motor function loss and skeletal muscular atrophy. Nusinersen, an antisense oligonucleotide, is the first FDA-approved therapy to achieve a significant ...
Hong Seon Lee, Hyunjoo Lee, Young-Mock Lee, Sungjun Kim   +3 more
doaj   +1 more source

Kinesio taping application in a pediatric patient with spinal muscular atrophy

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2016
Kinesio taping is one of the elastic bandage methods which has been quite popular in the last 20 years and has been applied in various musculoskeletal conditions. Although the mechanism of action is not clear, many theories have been suggested so far. In
Bayram Kelle, Didem Arslan Tas, Erkan Kozanoglu   +2 more
doaj   +1 more source

Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease

Annals of Indian Academy of Neurology, 2012
Kennedy's disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed.
P. J. Caballero
semanticscholar   +1 more source

The potential therapeutic effects of creatine supplementation on body composition and muscle function in cancer [PDF]

, 2018
Low muscle mass in individuals with cancer has a profound impact on quality of life and independence and is associated with greater treatment toxicity and poorer prognosis.
Fairman, C M, Galvao, D A, Hart, Nicolas H, Kendall, K L, Newton, R U, Taaffe, D R   +5 more
core   +2 more sources

Sustained‐Release Photothermal Microneedles for Postoperative Incisional Analgesia and Wound Healing via Hydrogen Therapy

Advanced Science, EarlyView.
This study introduces a novel transdermal delivery system of molecular hydrogen for postoperative pain relief and wound healing. This system utilizes sustained‐release photothermal microneedles to integrate hydrogen‐releasing nanoparticles and temperature‐responsive microspheres, achieving acid‐responsive hydrogen release and controlled drug release ...
Aining Zhang, Xue Jiang, Bingrui Xiong, Jiayi Chen, Xin Liu, Siyuan Wang, Bofu Li, Mian Peng, Wei Li   +8 more
wiley   +1 more source

Cardiac insufficiency in a child with Duchenne's progressive muscular dystrophy

Acta Médica del Centro, 2009
In 1861 Duchenne described the case of a male patient suffering from a pseudohyperthrophic progressive myopathy with a heredity link to gender. Duchenne's progressive muscular dystrophy is considered the most common and important form of this group of ...
Lisset Ley Vega, Jesús Arturo Satorre Ygualada, Lourdes Rodríguez Royero   +2 more
doaj