Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical diagnostics. We included a population based sample of 81 CMT families. Gene mutations had previousl...

charcot-marie-tooth (cmt) diseases represent a heterogeneous genetic disorder with more than 80 genes implicated, however sharing a similar phenotype. in recent years, advances in molecular genetics and molecular biology, and also the development of various animal models of cmt, have led to a better understanding. this knowledge represents a prerequisite for the development of future therapies ...

BACKGROUND Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. OBJECTIVE To investigate the frequency and pheno...

Existing researches on performance analysis of SCTP’s Concurrent Multipath Transfer (CMT-SCTP) usually use DropTail algorithm as queue management algorithm without considering the impact of the background traffic. However, the background traffic of realistic network environments has an important impact on the QoS of SCTP. Besides, more and more Active Queue Management (AQM) algorithms have been...

charcot-marie-tooth disease (cmt) is the most common inherited neurological disorder, affecting both motor and sensory peripheral nerves. neurophysiological patterns divide cmt into three main groups: demyelinating cmt1 (upper limb motor nerve conduction velocity (mncv) <38 m/s), axonal cmt2 (mncv >38 m/s) and intermediate cmt (mncv 25-45 m/s). cmt has been also categorized based on the mode of...

Four-hundred milk samples from half udders of 20 flocks of native breed goats were asepticallycollected. The samples were examined by California mastitis test (CMT). Twenty-one (5.25%) of 400 wereCMT-positive. The CMT-positive samples were then cultured and the following bacteria were isolated:Staphylococcus aureus in 3 (14.28%), CNS (coagulase-negative staphylococci) in 14 (66.66%), streptococ...

BACKGROUND The 9-hole peg test (9-HPT) and 10-meter walk test (10-MWT) are commonly used to test finger motor function and walking ability. The aim of this present study was to investigate the efficacy of these tests for evaluating functional loss in Chinese Charcot-Marie-Tooth (CMT) disease. METHODS Thirty-four Chinese CMT patients (CMT group) from August 2015 to December 2016 were evaluated...

Atopic dermatitis (AD), which is known as the most common pruritic skin disease, is caused by epidermal barrier dysfunction, allergies, microwave radiation, histamine intolerance, and genetic defects. To investigate the therapeutic effects of fermented soycrud (FSC) on AD pathology, alteration of AD phenotypes induced by phthalic anhydride (PA) treatment was assessed by ear thickness analysis, ...

OBJECTIVE To investigate the coexistence rate and related factors of developmental dysplasia of the hip (DDH) and congenital muscular torticollis (CMT), and to determine whether ultrasonography (US) gives good value for screening of DDH in CMT. METHOD We prospectively examined 121 infants (73 males and 48 females) diagnosed with CMT to determine the incidence of DDH by US. We also assessed th...

Charcot-Marie-Tooth disease (CMT) with deafness is clinically distinct among the genetically heterogeneous group of CMT disorders. Molecular studies in a large family with autosomal dominant CMT and deafness have not been reported. The present molecular study involves a family with progressive features of CMT and deafness, originally reported by Kousseff et al. Genetic analysis of 70 individual...