The large GTPase dynamin 2 is a key player in membrane and cytoskeletal dynamics mutated in centronuclear myopathy (CNM) and Charcot-Marie Tooth (CMT) neuropathy, two discrete dominant neuromuscular disorders affecting skeletal muscle and peripheral nerves respectively. The molecular basis for the tissue-specific phenotypes observed and the physiopathological mechanisms linked to dynamin 2 muta...

This study is aimed to conduct a systematic literature review regarding the associations between psychiatric symptoms, functional impairments, and quality of life in patients with CMT (Charcot-Marie-Tooth). The PUBMED, PsycInfo, SCIELO, and LILACS electronic databases were used, and the following search terms were employed: CMT, HMSN (hereditary motor and sensory neuropathy), mental disorder, q...

PURPOSE To compare central macular thickness (CMT) measurement on healthy patient using 3 different OCT devices by two operators. METHODS Prospective, monocentricstudy. Right eye's central macular thickness (CMT) of 30 healthy patients has been measured three times using a time-domain (TD) OCT (Stratus OCT, Carl Zeiss Meditec, Dublin, Ca) and two spectral domain (SD) OCTs (Cirrus HD-OCT, Carl...

The interphase cortical microtubules (CMTs) of plant cells form strikingly ordered arrays in the absence of a dedicated microtubule-organizing center. Considerable research effort has focused on activities such as bundling and severing that occur after CMT nucleation and are thought to be important for generating and maintaining ordered arrays. In this review, we focus on how nucleation affects...

This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the chara...

PURPOSE To validate the diagnostic codes for Charcot-Marie-Tooth disease (CMT) in the Danish National Patient Registry (DNPR) using positive predictive value (PPV) as a measure of validity. PATIENTS AND METHODS We used the DNPR to identify all patients diagnosed with at least one primary CMT diagnosis at a specialized department in the Central Denmark Region during the period 1977-2012. From ...

BACKGROUND Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. A great number of causative genes have been described in CMT, and among them, the heterozygous duplication of peripheral myelin protein-22 (PMP22) is the major cause. Although the missense mutation in PMP22 is rarely reported, it has been demonstrated to be associated with CMT. This study described ...

BACKGROUND Congenital muscular torticollis (CMT) is a relatively common neck deformity in infancy. The aim of our research was to determine the value of high-frequency and color Doppler ultrasonography in diagnosing CMT. METHODS Patients with a clinical suspicion of CMT underwent an ultrasound examination before diagnosis, and the sonographic characteristics were analyzed and compared with th...

In this paper, we develop a robust and effective algorithm for texture segmentation and feature selection. The approach is to incorporate a patch-based subspace learning technique into the subspace Mumford-Shah (SMS) model to make the minimization of the SMS model robust and accurate. The proposed method is fully unsupervised in that it removes the need to specify training data, which is requir...

High-strength 7xxx series aluminum alloys are of great importance for the aerospace industries. However, this type has poor processability most additive manufacturing techniques. In paper, a newly designed Al–Zn–Mg alloy was used as feeding wire to fabricate thin wall-shaped samples using and arc (WAAM) technique. These were fabricated based on cold metal transfer (CMT) process with four differ...