نتایج جستجو برای: cmt 4a

تعداد نتایج: 7820  

2017
Hampig Raphael Kourie Nicolas Mavroudakis Philippe Aftimos Martine Piccart

Charcot-Marie-Tooth (CMT) neuropathy is the most common hereditary cause of neuropathy. Diagnosis is usually not made during the childhood but in adolescence or late adulthood. It is reported in the literature that some neurotoxic chemotherapeutical agents can reveal an asymptomatic CMT IA hereditary neuropathy. To our knowledge, we report here the first case of CMT IA revealed in a 55-year-old...

Journal: :Journal of medical genetics 2005
R Claramunt L Pedrola T Sevilla A López de Munain J Berciano A Cuesta B Sánchez-Navarro J M Millán G M Saifi J R Lupski J J Vílchez C Espinós F Palau

C harcot-Marie-Tooth (CMT) disease is a motor and sensory neuropathy with clinical and genetic heterogeneity. Patients usually present in the first or second decade of life with distal muscle atrophy in the legs, areflexia, foot deformity (mainly pes cavus), and steppage gait. In most cases, hands are also involved as the disease progresses. CMT is the most frequent inherited neuropathy, with a...

2007
M. IQBAL M. AMJED M. A. KHAN M. S. QURESHI U. SADIQUE

The present study was undertaken to compare five laboratory diagnostic tests for sub-clinical mastitis in cattle and buffaloes and to compute cost, time taken by each test and its ranking for availability, adoptability, interpretability and sensitivity. There were 352 cases with each test type viz. California Mastitis Test (CMT), White Side Test (WST), White Side + Dye (WSTD), Surf Test and Sur...

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...

Journal: :American journal of physiology. Renal physiology 2008
Jan Michael Williams Albert Sarkis Kimberly M Hoagland Katherine Fredrich Robert P Ryan Carol Moreno Bernardo Lopez Jozef Lazar Francisco J Fenoy Mukut Sharma Michael R Garrett Howard J Jacob Richard J Roman

This study examined the effect of transfer of overlapping regions of chromosome 5 that includes (4A(+)) or excludes (4A(-)) the cytochrome P-450 4A (CYP4A) genes from the Lewis rat on the renal production of 20-hydroxyeicosatetraenoic acid (20-HETE) and the development of hypertension-induced renal disease in congenic strains of Dahl salt-sensitive (Dahl S) rats. The production of 20-HETE was h...

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