نتایج جستجو برای: cmt

تعداد نتایج: 1798  

2016
Yujiro Higuchi Akihiro Hashiguchi Junhui Yuan Akiko Yoshimura Jun Mitsui Hiroyuki Ishiura Masaki Tanaka Satoshi Ishihara Hajime Tanabe Satoshi Nozuma Yuji Okamoto Eiji Matsuura Ryuichi Ohkubo Saeko Inamizu Wataru Shiraishi Ryo Yamasaki Yasumasa Ohyagi Jun‐ichi Kira Yasushi Oya Hayato Yabe Noriko Nishikawa Shinsuke Tobisawa Nozomu Matsuda Masayuki Masuda Chiharu Kugimoto Kazuhiro Fukushima Satoshi Yano Jun Yoshimura Koichiro Doi Masanori Nakagawa Shinichi Morishita Shoji Tsuji Hiroshi Takashima

OBJECTIVE The objective of this study was to identify new causes of Charcot-Marie-Tooth (CMT) disease in patients with autosomal-recessive (AR) CMT. METHODS To efficiently identify novel causative genes for AR-CMT, we analyzed 303 unrelated Japanese patients with CMT using whole-exome sequencing and extracted recessive variants/genes shared among multiple patients. We performed mutation scree...

2018
Matilde Laurá Dishan Singh Gita Ramdharry Jasper Morrow Mariola Skorupinska Davide Pareyson Joshua Burns Richard A. Lewis Steven S. Scherer David N. Herrmann Nicholas Cullen Christopher Bradish Luca Gaiani Nicolò Martinelli Paul Gibbons Glenn Pfeffer Phinit Phisitkul Keith Wapner James Sanders Sam Flemister Michael E. Shy Mary M. Reilly

INTRODUCTION Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS In this study we assessed the frequency of foot deformities and surgery among p...

2013
Sandra L. Kaplan

Background: Congenital muscular torticollis (CMT) is an idiopathic postural deformity evident shortly after birth, typically characterized by lateral flexion of the head to one side and cervical rotation to the opposite side due to unilateral shortening of the sternocleidomastoid muscle. CMT may be accompanied by other neurological or musculoskeletal conditions. Key Points: Infants with CMT are...

2016
Fernanda Pacella Adriana Francesca Ferraresi Paolo Turchetti Tommaso Lenzi Rosalia Giustolisi Andrea Bottone Valeria Fameli Maria Rosaria Romano Elena Pacella

AIM To evaluate the efficacy of intravitreal dexamethasone injections in diabetic macular edema (DME). METHODS A 700 μg slow-release intravitreal dexamethasone implant (Ozurdex®) was placed in the vitreal cavity of 17 patients (19 eyes) affected with persistent DME. Best corrected visual acuity (BCVA) was assessed through Early Treatment Diabetic Retinopathy Study (ETDRS). Central macular thi...

Journal: :Computer Communications 2007
Janardhan R. Iyengar Paul D. Amer Randall R. Stewart

We study the performance of Concurrent Multipath Transfer using SCTP multihoming (CMT) in the presence of a bounded receive buffer (rbuf). We demonstrate using simulation that if two paths are used for CMT, the lower quality (i.e., higher loss rate) path degrades overall throughput of an rbufconstrained CMT association by blocking the rbuf. We argue that rbuf blocking is not specific to the tra...

2012
Chih-Shung Wong Chun-Chang Yeh Shan-Chi Ko

The Western approach to pain management is focused on the use of pharmacotherapy, physical therapy, nerve blocks, nerve ablations, implantable devices. Even though increasing of understanding of the mechanisms of pain for the treatments; some pains remain intractable (Hariharan et al, 2007; Wagner et al, 2007; Laxmaiah et al, 2009). In contrast, traditional Chinese medicine (TCM) centres primar...

2015
Youngmin Han Kyoung-Tae Kim Dae-Chul Cho Joo-Kyung Sung

We report the case of 57-year-old woman diagnosed with Charcot-Marie-Tooth (CMT) disease and lumbar disk herniation (LDH). She had left leg weakness and foot numbness, foot deformity (muscle atrophy, high arch, and clawed toes). The lumbar spine MRI showed LDH at L4-5. Additionally, electrophysiology results were consistent with chronic peripheral motor-sensory polyneuropathy (axonopathy). In g...

Journal: :Neuro endocrinology letters 2006
Damian P Wojcik Michael E Godfrey Derek Christie Boyd E Haley

In a group of 465 patients diagnosed as having chronic mercury toxicity (CMT), 32.3% had severe fatigue, 88.8% had memory loss, and 27.5% had depression. A significant correlation was found between CMT and the Apo-lipoprotein E4 genotype (p=0.001). An investigation into an additional 864 consecutively seen general practice patients, resulted in 30.3% having evidence consistent with CMT, and onc...

2006
Preethi Natarajan Janardhan R. Iyengar Paul. D. Amer Randall Stewart

Recent research on Concurrent Multipath Transfer using SCTP multihoming (CMT) proposed various retransmission policies to minimize the negative impacts of receiver buffer (rbuf) blocking that occurs during congestion. Here we investigate CMT’s throughput degradation caused by rbuf blocking during complete and/or short-term network failures. To improve CMT’s performance during failure, we introd...

2001
William Bluethmann Fredrik Rehnmark Thuy Nguyen Hal Aldridge

The Cooperative Manipulation Testbed (CMT) in the Dexterous Robotics Laboratory at the NASA Johnson Space Center (JSC) is a facility for developing and testing control systems for space robotics and a general robotics testbed for system development. The CMT consists of three seven degree-of-freedom commercial manipulators with flexible tooling arranged in a configuration inspired by other dexte...

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