Mutations in SOX18 cause the human hypotrichosis-lymphedema-telangiectasia (HLT) syndrome. Their murine counterparts are the spontaneous ragged mutants, showing combined defects in hair follicle, blood vessel, and lymphatic vessel development. Mice null for Sox18 display only mild coat defects, suggesting a dominant-negative effect of Sox18/ragged mutations and functional redundancy between Sox...

We retrospectively reviewed 118 muscle biopsy specimens from 113 patients with clinical and/or biochemical evidence of mitochondrial cytopathy. Light microscopic evaluation revealed histologic abnormalities in 65 specimens. The most common histologic findings included angular atrophic esterase-positive muscle fibers, type II muscle atrophy, regenerating muscle fibers, and scattered cytochrome-o...

PURPOSE To analyze mitochondrial DNA (mt DNA) gene mutations in a 19-year-old female patient, who presented with chronic progressive external ophthalmoplegia (CPEO), together with her mother and younger sister. METHODS The diagnosis of mitochondrial myopathy was made based on clinical and biologic analysis. Histochemical methods were used to detect ragged-red fibers (RRFs) and ragged-blue fib...

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode (MELAS) and myoclonic epilepsy and ragged-red fibers (MERRF) are rare disorders caused by point mutation of the tRNA gene of the mitochondrial genome. To understand the pathogenetic mechanism of MELAS and MERRF, we studied four patients. Serially sectioned frozen muscle specimens with a battery of histochemical stai...

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome was first described in 1984 by Pavlakis et al. [1] after reporting three cases of their own and identifying eight others in the literature. Although MELAS syndrome shares some similarities with Kearns-Sayre syndrome and MERRF (myoclonus epilepsy and ragged-red fibers) syndrome, they believe it to be a distinct ...

Abstract Background Peer workers or “peers” (workers with past present drug use experience) are at the forefront of overdose response initiatives, and their role is essential in creating safe spaces for people who drugs (PWUD). Working settings has benefits peer but also stressful, lasting emotional mental health effects. Yet, little known about stressors face what interventions can be implemen...