نتایج جستجو برای: cmt 4a

تعداد نتایج: 7820  

2013
Michael A Singer Steven R Cohen Sylvia L Groth Salman Porbandarwalla

PURPOSE To examine short-term effects of ranibizumab versus bevacizumab on reduction of optical coherence tomography (OCT) central macular thickness (CMT) in patients with macular edema secondary to retinal vein occlusions (RVOs). METHODS This is a retrospective analysis in which patients with RVOs were injected with either bevacizumab or ranibizumab. At 2 weeks, all patients were injected wi...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2007
Leslie A Nangle Wei Zhang Wei Xie Xiang-Lei Yang Paul Schimmel

Charcot-Marie-Tooth (CMT) diseases are the most common heritable peripheral neuropathy. At least 10 different mutant alleles of GARS (the gene for glycyl-tRNA synthetase) have been reported to cause a dominant axonal form of CMT (type 2D). A unifying connection between these mutations and CMT has been unclear. Here, mapping mutations onto the recently determined crystal structure of human GlyRS...

2013
Hyeng Kue Park Eun Young Kang Sung Hoon Lee Kyoung Min Kim A Young Jung Doo Hyoun Nam

OBJECTIVE To determine whether a routine ultrasonography (US) is necessary for diagnosis of developmental dysplasia of hip (DDH), presenting with congenital muscular torticollis (CMT). METHODS Cases of 133 patients (81 males, 52 females) diagnosed as CMT were reviewed, retrospectively. We reviewed the medical charts and diagnostic examination. We also assessed the coincidence of CMT and DDH, ...

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...

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