Results 41 to 50 of about 444,467 (232)
BMC Anesthesiology, 2019 Background We aim to describe the evaluation and management of a patient with the uncommon combination of both mitochondrial myopathy and possible malignant hyperthermia susceptibility as an important source of information and as a valuable example of ...
Marci B. Pepper +2 more
doaj +1 more source
Journal of Pediatric Neurosciences, 2013 Valproic acid (VPA) is widely used as an anti-epileptic drug. The primary mechanism of VPA toxicity is interference with mitochondrial beta-oxidation, and it can exacerbate an underlying mitochondrial cytopathy. We report a case of Mitochondrial myopathy,
Neera Chaudhry +2 more
doaj +1 more source
Free left ventricular wall rupter in a newborn. [PDF]
, 2015 Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter +9 more
core +1 more source
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 +9 more
wiley +1 more source
Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV
Advanced Science, EarlyView.Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes +14 more
wiley +1 more source
Advanced Science, EarlyView.Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi +11 more
wiley +1 more source
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Life Science AllianceThe present study describes a novel pathogenic variant in MFN2 from a patient with late-onset distal myopathy and links pathogenic perturbation of MFN2 function to mitochondrial DNA release and inflammation.
Mashiat Zaman +10 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2023 Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal +10 more
doaj +1 more source
Advanced Science, EarlyView.Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu +18 more
wiley +1 more source
TMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathy
Life Science Alliance, 2022 TMBIM5 deficiency reduces mitochondrial K + /H + exchange. Mutation of the channel pore in mice destabilizes the protein and results in increased embryonic lethality and a skeletal myopathy.
Li Zhang +20 more
doaj +1 more source