Congenital muscular torticollis (CMT) is a common cause of torticollis in children. Despite the ease in diagnosis in management, rare cases may be neglected and untreated which may not only impose cosmetic problems for the individual, but also affects the cervical spine with accelerated degeneration. Most patients with CMT can be managed non-surgically with medical and physical therapies, a...

OBJECTIVE Charcot-Marie-Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, natural history studies, and for entry into clinical trials. However genetic testing can be both expensive and confusing to patients and physicians. METHODS We analyzed data from 1,024 of our patien...

AIM The study examined the response rate, response duration and toxicity of maintenance treatment (CMT) and non-maintenance treatment with capecitabine (non-CMT) in metastatic breast cancer (MBC). MATERIAL AND METHODS Between September 2009 and July 2013, a group of 82 patients with MBC, who had progressed after anthracycline/taxane chemotherapy, was treated with a capecitabine-based chemothe...

INTRODUCTION OR BACKGROUND Charcot-Marie-Tooth (CMT) disease represents a broad group of inherited motor and sensory neuropathies which can originate from various genetic aberrations, e.g. mutations, deletions and duplications. SOURCES OF DATA We performed a literature review on murine animal models of CMT disease with regard to experimental therapeutic approaches. Hereby, we focussed on the ...

OBJECTIVE To determine the efficacy of topical Nepafenac (0.1%), administered post-operatively in prevention of Macular Edema (ME), after cataract surgery in patients with Non-Proliferative Diabetic Retinopathy (NPDR). METHODS This randomized control trial was conducted at Armed Forces Institute of Ophthalmology (AFIO), Rawalpindi from Sep 2015 to Sep 2016. Sixty eyes of 60 patients with NPDR...

Dominant mutations in five tRNA synthetases cause Charcot-Marie-Tooth (CMT) neuropathy, suggesting that altered aminoacylation function underlies the disease. However, previous studies showed that loss of aminoacylation activity is not required to cause CMT. Here we present a Drosophila model for CMT with mutations in glycyl-tRNA synthetase (GARS). Expression of three CMT-mutant GARS proteins i...

OBJECTIVE To quantify magnetic resonance imaging (MRI) findings of congenital muscular torticollis (CMT) and to demonstrate the usefulness of quantitative MRI findings in the management of CMT. METHODS This was a retrospective study of 160 subjects with CMT who had undergone neck MRI at the age of 48 months or younger at a tertiary medical center. Among the 160 subjects, 54 had undergone surg...

Charcot-Marie-Tooth (CMT) disorders are the extremely heterogeneous group of diseases of the peripheral nervous system in humans with a prevalence of 1: 2500. Up to date mutations in 30 genes have been reported in various CMT forms. In numerous CMT types only locus is known and some CMT forms were shown not to be linked with any known locus. Genetic studies in CMT disorders cover a wide spectru...

This study examined whether two machine-marked tests (MMTs; a clinical problem-solving test and situational judgement test), previously validated for selection into U.K. general practice (GP) training, could provide a valid methodology for shortlisting into core medical training (CMT). A longitudinal design was used to examine the MMTs' psychometric properties in CMT samples, and correlations b...

Charcot–Marie–Tooth disease (CMT) is one of the most common inherited neuropathy, with estimated prevalence of 17 to 40 in 100,000 affected (Patzkó, & Shy, 2011). CMT is characterized by atrophy of muscle tissue and loss of touch sensation of limb, predominantly in the feet and legs, foot drop, and hammer toes. The most frequent initial symptoms include foot drop, claw toe, and muscle wasting i...