background and aims: charcot marie tooth disease (cmt) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. cmt is a heterogeneous disease and has different clinical symptoms. the prevalence of cmt and involved genes differ in different countries. cmt patients experience considerable sleep problems and a higher risk of decreased quality of life. in this work it was aimed ...

Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, electrophysiological findings. Approximately 140 genes have been reported to associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced dif...

Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the wea...

Background Charcot-Marie-Tooth (CMT) disease is a hereditary neuropathy associated with impaired walking capacity. Some patients are too weak in the lower extremity muscles to walk at gravity with sufficient intensity or duration to gain benefit. Aim The aim was to investigate the effect of aerobic anti-gravity exercise in weak patients with CMT 1A and X. Methods Five adult patients perform...

AIM To evaluate the safety and efficacy of a dexamethasone (DEX) intravitreal implant for diabetic macular edema (DME). METHODS Totally 113 eyes of 84 patients were divided in three subgroups: naive patients (n=11), pseudophakic patients (n=72) and phakic patients (n=30). Inclusive criterion comprised adult diabetic patients with central fovea thickening and impaired visual acuity resulting f...

Treatment of inflammatory diseases of asthmatics can be a serious problem since some patients show intolerance to aspirin and other non-steroidal, anti-inflammatory drugs that are cyclooxygenase inhibitors. Salicylates were believed to be well tolerated, but recent reports have demonstrated that diflunisal and salicylsalicylic acid can precipitate asthma attacks in aspirin-intolerant patients. ...

BACKGROUND Charcot Marie Tooth disease (CMT) affects one in 2500 people. Genetic testing is often pursued for family planning purposes, natural history studies and for entry into clinical trials. However, identifying the genetic cause of CMT can be expensive and confusing to patients and physicians due to locus heterogeneity. METHODS We analyzed data from more than 1000 of our patients to ide...

Four different canine mammary tumor (CMT) cell lines and a nonneo plastic primary culture of mammary cells were examined for their in vitro responsiveness to selenium supplementation. These cell lines were found to vary in their metabolic response to increasing concentrations of selenium. Sensitivity to selenium, as sodium selenite, increased with increasing concentrations of this trace element...

OBJECTIVE To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity. METHODS Blood samples were collected from 75 patients with CMT and 67 age-matched healthy controls over a 1-year period. Disease severity was measured using the Rasch mo...