Read by QxMD icon Read


Francis B Panosyan, Rabi Tawil, David N Herrmann
INTRODUCTION: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. METHODS: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. RESULTS: Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m...
October 26, 2016: Muscle & Nerve
Shri Ram
BACKGROUND: This study is a quantitative and qualitative assessment of the global research trends on amyotrophic lateral sclerosis (ALS) (popularly known as Ice Bucket Challenge), through related literatures retrieved from SCOPUS multidisciplinary database for the period 1974-2013. PURPOSE: This study is aimed at analyzing the literature on ALS in terms of document type, language, annual growth, productive country, journal, authors, subject, and most cited articles...
October 2016: Annals of Neurosciences
Antonietta Franco, Richard N Kitsis, Julie A Fleischer, Evripidis Gavathiotis, Opher S Kornfeld, Guohua Gong, Nikolaos Biris, Ann Benz, Nir Qvit, Sara K Donnelly, Yun Chen, Steven Mennerick, Louis Hodgson, Daria Mochly-Rosen, Gerald W Dorn
Mitochondria are dynamic organelles, remodeling and exchanging contents during cyclic fusion and fission. Genetic mutations of mitofusin (Mfn) 2 interrupt mitochondrial fusion and cause the untreatable neurodegenerative condition, Charcot Marie Tooth disease type 2A (CMT2A). It has not been possible to directly modulate mitochondrial fusion, in part because the structural basis of mitofusin function is incompletely understood. Here we show that mitofusins adopt either a fusion-constrained or fusion-permissive molecular conformation directed by specific intramolecular binding interactions, and demonstrate that mitofusin-dependent mitochondrial fusion can be regulated by targeting these conformational transitions...
October 24, 2016: Nature
Xiaohui Duan, Weihong Gu, Ying Hao, Renbin Wang, Hong Wen, Shaojie Sun, Jinsong Jiao, Dongsheng Fan
Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves. Mutations in MPZ have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes (CMT1B, CMT2I/J, CMTDI), Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. Here, we report phenotypic variability in a four-generation Chinese family with the MPZ mutation Asp121Asn. Genetic testing was performed on nine family members and 200 controls. Clinical, electrophysiological and skeletal muscle MRI assessments were available for review in six family members...
2016: Frontiers in Aging Neuroscience
Partha P Chakraborty, Shinjan Patra, Sugata N Biswas, Gouranga Santra, Satinath Mukhopadhyay, Subhankar Chowdhury
No abstract text is available yet for this article.
October 2016: Clinical Diabetes: a Publication of the American Diabetes Association
Patrick K Strotman, Taylor J Reif, Michael S Pinzur
Level V, expert opinion.
October 7, 2016: Foot & Ankle International
Jason Fleming, Dianna Quan
We present a patient with congenital spinal muscular atrophy associated with pain, subjective sensory loss, right talipes equinovarus, delayed walking, and progressive gait impairment. A sister and niece reportedly had Charcot-Marie-Tooth 1A, but the patient's electromyogram showed an axonal motor neuropathy or neuronopathy. We identified a c.806G>A TRPV4 gene mutation causing an Arg269His amino acid substitution. TRPV4 mutations cause variable phenotypes including axonal sensorimotor neuropathy and motor neuropathy or neuronopathy...
September 16, 2016: Neuromuscular Disorders: NMD
Ashu Rastogi, Anish Bhattacharya, Mahesh Prakash, Sarika Sharma, Bhagwant R Mittal, Niranjan Khandelwal, Anil Bhansali
OBJECTIVE: Diabetic foot osteomyelitis (DFO) is difficult to diagnose in the presence of Charcot's neuroarthropathy (CN) and bone biopsy is not always possible. We aimed to assess the efficacy of PET/computed tomography using F-fluoride (F-fluoride PET/CT) and fluorine-18-fluorodeoxyglucose-labeled autologous leukocytes (F-FDG-LL PET/CT) in comparison with contrast-enhanced MRI (CEMRI) for the detection of DFO. PATIENTS AND METHODS: Thirty-two patients with chronic CN and foot ulcer suspected of having DFO were prospectively evaluated...
October 4, 2016: Nuclear Medicine Communications
Bradley Schoch, Jean-David Werthel, John W Sperling, Robert H Cofield, Joaquin Sanchez-Sotelo
INTRODUCTION: Charcot arthropathy is a rare cause of debilitating joint destruction. Shoulder arthroplasty for Charcot arthropathy is challenging secondary to local bone and soft tissue loss, lack of protective sensation, and altered muscle control. The purpose of this study is to review the outcomes, complications, and survivorship of shoulder arthroplasty for Charcot arthropathy. METHODS: Between January 2000 and December 2011, ten shoulders with Charcot arthropathy were treated with shoulder arthroplasty at our Institution (six hemiarthroplasty, one total shoulder arthroplasty, three reverse shoulder arthroplasty)...
October 14, 2016: International Orthopaedics
Neil Stewart, Kevin Karpik
Neuropathic Arthropathy or Charcot joint is a progressive, destructive arthritis that is associated with an underlying neurological disorder. We present a case of a 30 year-old male who, three years prior, had ruptured his right distal biceps tendon with subsequent development of a deep infection. At representation, the patient's clinical picture was consistent with the re-emergence of a deep elbow infection. Laboratory testing found no evidence of infection. Magnetic Resonance Imaging (MRI) of the patient's spine revealed a syringomyelia and a NA was diagnosed...
October 14, 2016: New Zealand Medical Journal
Bryan P Schneider, Dongbing Lai, Fei Shen, Guanglong Jiang, Milan Radovich, Lang Li, Laura Gardner, Kathy D Miller, Anne O'Neill, Joseph A Sparano, Gloria Xue, Tatiana Foroud, George W Sledge
PURPOSE: Taxane-induced peripheral neuropathy (TIPN) is one of the most important survivorship issues for cancer patients. African Americans (AA) have previously been shown to have an increased risk for this toxicity. Germline predictive biomarkers were evaluated to help identify a priori which patients might be at extraordinarily high risk for this toxicity. EXPERIMENTAL DESIGN: Whole exome sequencing was performed using germline DNA from 213 AA patients who received a standard dose and schedule of paclitaxel in the adjuvant, randomized phase III breast cancer trial, E5103...
October 9, 2016: Oncotarget
Yuksel Batir, Thaddeus A Bargiello, Terry L Dowd
In this article we present (1)H and (13)C chemical shift assignments, secondary structural propensity data and normalized temperature coefficient data for N-terminal peptides of Connexin 26 (Cx26), Cx26G12R and Cx32G12R mutants seen in syndromic deafness and Charcot Marie Tooth Disease respectively, published in "Structural Studies of N-Terminal Mutants of Connexin 26 and Connexin 32 Using 1H NMR Spectroscopy" (Y. Batir, T.A. Bargiello, T.L. Dowd, 2016) [1]. The mutation G12R affects the structure of both Cx26 and Cx32 peptides differently...
December 2016: Data in Brief
Q Deeley
In the 19th century it was recognized that neurologic symptoms could be caused by "morbid ideation" as well as organic lesions. The subsequent observation that hysteric (now called "functional") symptoms could be produced and removed by hypnotic suggestion led Charcot to hypothesize that suggestion mediated the effects of ideas on hysteric symptoms through as yet unknown effects on brain activity. The advent of neuroimaging 100 years later revealed strikingly similar neural correlates in experiments matching functional symptoms with clinical analogs created by suggestion...
2017: Handbook of Clinical Neurology
C G Goetz
Jean-Martin Charcot (1825-1893) was the 19th-century's premier international neurologist. One of his areas of focused interest was the neurologic disorder, hysteria, a condition with distinctive neurologic signs, but no established structural lesions identified at autopsy. Charcot considered hysteria as a physiologic disorder that affected specific neuroanatomic areas of the brain comparable to the same areas that were damaged by structural neurologic disorders provoking the same or similar signs. He considered hysteria primarily a hereditary disorder, but environmental factors including physical and emotional stress served as provoking factors...
2017: Handbook of Clinical Neurology
Makito Hirano, Nobuyuki Oka, Akihiro Hashiguchi, Shuichi Ueno, Hikaru Sakamoto, Hiroshi Takashima, Yujiro Higuchi, Susumu Kusunoki, Yusaku Nakamura
Charcot-Marie-Tooth (CMT) disease is a complex of peripheral nervous system disorders. CMT type 2U (CMT2U) is an autosomal dominant disease caused by mutations in the MARS gene encoding methionyl-tRNA synthetase; this disease has thus been newly called AD-CMTax-MARS. A few families with mutations in the MARS gene have been reported, without detailed histopathological findings. We describe a 70-year-old woman who had bilateral dysesthesia of the soles since the age of 66 years. Sural nerve biopsy showed a decrease in the density of large myelinated nerve fibers...
October 7, 2016: Journal of the Peripheral Nervous System: JPNS
Raghav Sundar, Anand D Jeyasekharan, Brendan Pang, Richie Chuan Teck Soong, Nesaretnam Barr Kumarakulasinghe, Samuel Guan Wei Ow, Jingshan Ho, Joline Si Jing Lim, David Shao Peng Tan, Einar P V Wilder-Smith, Aishwarya Bandla, Stacey Sze Hui Tan, Bernadette Reyna Asuncion, Zul Fazreen, Michal Marek Hoppe, Thomas Choudary Putti, Lay Mui Poh, Boon Cher Goh, Soo-Chin Lee
INTRODUCTION: Sensory peripheral neuropathy caused by paclitaxel is a common and dose limiting toxicity, for which there are currently no validated predictive biomarkers. We investigated the relationship between the Charcot-Marie-Tooth protein NDRG1 and paclitaxel-induced neuropathy. METHODS/MATERIALS: Archived mammary tissue specimen blocks of breast cancer patients who received weekly paclitaxel in a single centre were retrieved and NDRG1 immunohistochemistry was performed on normal nerve tissue found within the sample...
2016: PloS One
A O'Loughlin, E Kellegher, C McCusker, R Canavan
BACKGROUND: Diabetic Charcot neuroarthropathy (DCN) is a devastating complication for people with diabetes mellitus. The failure to diagnose DCN and institute treatment in the acute phase leads to permanent deformity and significant morbidity. There is a paucity of data on the prevalence and characteristics of patients who have developed this complication of diabetes. AIMS: To determine the prevalence, clinical characteristics and outcomes of patients with DCN from 2006 to 2012...
October 6, 2016: Irish Journal of Medical Science
Philippe Codron, Arnaud Chevrollier, Mariame Selma Kane, Andoni Echaniz-Laguna, Philippe Latour, Pascal Reynier, Dominique Bonneau, Christophe Verny, Vincent Procaccio, Guy Lenaers, Julien Cassereau
Charcot-Marie-Tooth type 2A disease (CMT2A) is an inherited peripheral neuropathy mainly caused by mutations in the MFN2 gene coding for the mitochondrial fusion protein Mitofusin 2. Although the disease is mainly inherited in a dominant fashion, few cases of early-onset autosomal recessive CMT2A (AR-CMT2A) have been reported in recent years. In this study, we characterized the structure of mitochondrial network in cultured primary fibroblasts obtained from AR-CMT2A family members. The patient-derived cells showed an increase of the mitochondrial fusion with large connected networks and an increase of the mitochondrial volume...
October 5, 2016: Journal of the Peripheral Nervous System: JPNS
Erieta Nikolikj Dimitrova, Ivana Božinovikj, Simona Ristovska, Aleksandra Hadzieva Pejcikj, Aleksandra Kolevska, Mirjeta Hasani
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a hereditary disease with signs of chronic non-progressive motor-sensory neuropathy which is characterised by symmetric muscle atrophy and weakness of the distal portion of lower extremities. AIM: The aim is to present two cases with peroneal muscular atrophy, applied rehabilitation procedures and rehabilitation outcome. MATERIAL AND METHODS: Patient DR, aged 51, and patient KH, aged 78. Both patients had weakness and pronounced atrophy of the distal portion of lower extremities, numbness down the legs, contractures in the ankles and walking difficulties...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
Ernst A Chantelau
BACKGROUND: In diabetic persons with painless neuropathic foot ulceration, foot skin was found to be insensate to noxious pinprick stimulation (stimulation area less than 0.05 mm(2)), while compression of deep subcutaneous foot tissues by Algometer II(®) (stimulation area 1 cm(2)) could evoke a deep dull aching. To elucidate this discrepancy, the Algometer II stimulation technique was critically reviewed by varying probe sizes and anatomical sites in the same study population 3 years later...
2016: Diabetic Foot & Ankle
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"