Dystonia Scales for Children: Challenges and Obstacles in DBS Practice
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia in pediatric patients often coexists with other movement disorders and neurodevelopmental issues. Current rating scales for evaluating pediatric deep brain stimulation (DBS) candidates are not universally applicable and often require a non‐validated combination of the existing scales.
Marcela Montiel +4 more
wiley +1 more source
Arquivos de Neuro-PsiquiatriaObjective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups:
Gabriela Palhares Campolina-Sampaio +3 more
doaj +1 more source
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]
, 2013 Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...
Cleary, MA +5 more
core +1 more source
Skeletal Muscle Microbiopsies in Children and Adults—Tolerability, Sample Yield, and Analyzability
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims Traditional methods of sampling skeletal muscle tissue are invasive. This study aimed to evaluate a sub‐millimeter core‐biopsy (microbiopsy) as a potentially more tolerable method, with further regard to tissue yield and analyzability of RNA expression.
Emil Rydell Högelin +9 more
wiley +1 more source
A Case Report of Inflammatory Myopathy and Sideroblastic Anemia
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007 Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj
A peculiar formula of essential amino acids prevents rosuvastatin myopathy in mice [PDF]
, 2016 Aims: Myopathy, characterized by mitochondrial oxidative stress, occurs in ∼10% of statin-treated patients, and a major risk exists with potent statins such as rosuvastatin (Rvs).
Carruba, Michele O. +11 more
core +1 more source
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients [PDF]
, 2018 Matteo Suman +10 more
openalex +1 more source
Niacin Cures Systemic NAD+ Deficiency and Improves Muscle Performance in Adult-Onset Mitochondrial Myopathy [PDF]
, 2020 Eija Pirinen +17 more
openalex +1 more source
Nutrition in Clinical Practice, EarlyView.Abstract Background Although previous experimental studies showed that metabolic acidosis promoted muscle catabolism and impaired protein synthesis, few epidemiological studies reported an independent association between serum bicarbonate levels and muscle atrophy in patients with chronic kidney disease (CKD).
Nobuhisa Morimoto +13 more
wiley +1 more source
Positive Malignant Hyperthermia Susceptibility In Vitro Test in a Patient with Mitochondrial Myopathy and Myoadenylate Deaminase Deficiency [PDF]
, 2002 Ruth Fricker +6 more
openalex +1 more source