نتایج جستجو برای: cmt

تعداد نتایج: 1798  

Journal: :AANA journal 2009
Macy Brock Cherry Guinn Monica Jones

Additional documentation of regional anesthesia in patients with Charcot-Marie-Tooth disease (CMT) is needed to guide practitioners and patients in exploring appropriate options for anesthesia and analgesia management. This case report describes the successful use of a combined spinal-epidural technique for labor progressing to cesarean delivery in a patient with CMT. Previous similar case repo...

2012
Resa E Lewiss Turandot Saul Katja Goldflam

No single historical, physical, laboratory, or imaging finding is both sensitive and specific for the diagnosis of pelvic inflammatory disease (PID). Cervical motion tenderness (CMT), when present, is classically found on bimanual examination of the cervix and uterus. CMT is often associated with PID but can be present in other disease entities. We present a case report of a patient who was ult...

2016
Erik Storkebaum

Recent evidence indicates that inhibition of protein translation may be a common pathogenic mechanism for peripheral neuropathy associated with mutant tRNA synthetases (aaRSs). aaRSs are enzymes that ligate amino acids to their cognate tRNA, thus catalyzing the first step of translation. Dominant mutations in five distinct aaRSs cause Charcot-Marie-Tooth (CMT) peripheral neuropathy, characteriz...

2018
Roopam Jariwal Basel Shoua Katayoun Sabetian Piruthiviraj Natarajan Everardo Cobos

Charcot-Marie-Tooth (CMT) disease is a hereditary demyelinating disease of the peripheral nervous system that results in sensory and motor dysfunction. CMT includes a spectrum of diseases with different types of mutations in the genes encoding myelin protein, resulting in a variety of dysfunctions in its life cycle. In CMT subtype 1A there is duplication mutation of peripheral myelin protein 22...

2016
Ru-Yu Pan Yung-Chi Hsu Chih-Shung Wong Shinn-Long Lin Tsung-Ying Li Chen-Hwan Cherng Shan-Chi Ko Chun-Chang Yeh

The aim of this study was to compare the short-term outcomes between 2 different treatments for unilateral chronic shoulder pain of myofascial origin, that is, local tender area related meridians (LTARMs) treatment and collateral meridian therapy (CMT), which were performed 6 times over a period of 4 weeks.Seventy patients with unilateral shoulder pain of chronic myofascial origin were enrolled...

Journal: :Annals of neurology 2012
Joshua Burns Robert Ouvrier Tim Estilow Rosemary Shy Matilde Laurá Julie F Pallant Monkol Lek Francesco Muntoni Mary M Reilly Davide Pareyson Gyula Acsadi Michael E Shy Richard S Finkel

OBJECTIVE Charcot-Marie-Tooth disease (CMT) is a common heritable peripheral neuropathy. There is no treatment for any form of CMT, although clinical trials are increasingly occurring. Patients usually develop symptoms during the first 2 decades of life, but there are no established outcome measures of disease severity or response to treatment. We identified a set of items that represent a rang...

Journal: :International journal of multidisciplinary research and analysis 2022

Determination of the effects concept mapping technique on students’ performance in Grade 9 Science one public high school Bukidnon, Philippines was main objective this study. Specifically, it aimed to (1) describe level science as exposed (CMT) and those non- (non-CMT); (2) find out significant difference between student’s when CMT non-CMT. A quasi-experimental research design utilized involvin...

Journal: :international journal of epidemiology research 0
masoumeh pourhadi cellular and molecular research center, shahrekord university of medical sciences, shahrekord, i.r. iran fereshteh ahmadinejad cellular and molecular research center, shahrekord university of medical sciences, shahrekord, i.r. iran reza maghsoudi microbiology dept., shahrekord university of medical sciences, shahrekord, i.r. iran mohammad-saeid jami cellular and molecular research center, shahrekord university of medical sciences, shahrekord, i.r. iran

background and aims: charcot marie tooth disease (cmt) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. cmt is a heterogeneous disease and has different clinical symptoms. the prevalence of cmt and involved genes differ in different countries. cmt patients experience considerable sleep problems and a higher risk of decreased quality of life. in this work it was aimed ...

Journal: :Journal of electrodiagnosis and neuromuscular diseases 2022

Charcot-Marie-Tooth disease (CMT) is a spectrum of clinically and genetically heterogeneous peripheral neuropathies. CMT can be classified into demyelinating, intermediate, or axonal neuropathy based on clinical, histopathological, electrophysiological findings. Approximately 140 genes have been reported to associated with CMT. Mutations in the myelin protein zero (MPZ), ganglioside-induced dif...

Journal: :iranian journal of child neurology 0
esmaeel mohammadi pargoo science and research branch of islamic azad university, tehran, iran omid aryani medical genetics department, special medical center, tehran, iran. seyyed hassan tonekaboni associate professor of pediatric, pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran behnam kamalidehghan clinical genetics unit, department of obstetrics and gynecology, faculty of medicine and health sciences, universiti putra malaysia (upm), malaysia. massoud houshmand medical genetics department, special medical center, tehran, iran.

as a result of higher distributed consanguinity in the mediterranean region and the middle east, autosomal-recessive forms of charcot-marie-tooth (arcmt) are more common in these areas. cmt disease caused by mutations in the ganglioside-induced differentiation-associated protein 1 (gdap1) gene is a severe autosomal recessive neuropathy resulting in either demyelinating cmt4a neuropathy or axona...

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