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https://www.readbyqxmd.com/read/28544463/axonal-charcot-marie-tooth-neuropathy-concurrent-with-distal-and-proximal-weakness-by-translational-elongation-of-the-3-utr-in-nefh
#1
Da Eun Nam, Sung-Chul Jung, Da Hye Yoo, Sun Seong Choi, Sung-Yum Seo, Gwang Hoon Kim, Song-Ja Kim, Soo Hyun Nam, Byung-Ok Choi, Ki Wha Chung
Mutations in the NEFH gene encoding the heavy neurofilament protein are usually associated with neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS). Recently, frameshift variants in NEFH (p.Asp1004Glnfs*58 and p.Pro1008Alafs*56) have been reported to be the underlying cause of axonal Charcot-Marie-Tooth disease type 2CC (CMT2CC). The frameshift mutation resulted in a stop loss and translation of a cryptic amyloidogenic element (CAE) encoded by the 3' UTR. This study also identified a de novo c...
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28543957/a-novel-mutation-in-the-fgd4-gene-causing-charcot-marie-tooth-disease
#2
Panagiotis Zis, Mary M Reilly, Dasappaiah G Rao, Pedro Tomaselli, Alex M Rossor, Marios Hadjivassiliou
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
May 24, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28531329/alternative-stable-conformation-capable-of-protein-misinteraction-links-trna-synthetase-to-peripheral-neuropathy
#3
David Blocquel, Sheng Li, Na Wei, Herwin Daub, Mathew Sajish, Maria-Luise Erfurth, Grace Kooi, Jiadong Zhou, Ge Bai, Paul Schimmel, Albena Jordanova, Xiang-Lei Yang
While having multiple aminoacyl-tRNA synthetases implicated in Charcot-Marie-Tooth (CMT) disease suggests a common mechanism, a defect in enzymatic activity is not shared among the CMT-causing mutants. Protein misfolding is a common hypothesis underlying the development of many neurological diseases. Its process usually involves an initial reduction in protein stability and then the subsequent oligomerization and aggregation. Here, we study the structural effect of three CMT-causing mutations in tyrosyl-tRNA synthetase (TyrRS or YARS)...
May 22, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28527386/gait-patterns-of-children-and-adolescents-with-charcot-marie-tooth-disease
#4
Elizabeth Wojciechowski, Amy Sman, Kayla Cornett, Jacqueline Raymond, Kathryn Refshauge, Manoj P Menezes, Joshua Burns
Gait abnormalities reported in childhood Charcot-Marie-Tooth disease (CMT) include foot-drop, reduced ankle power at push-off and increased knee and hip flexion for swing clearance ('steppage-gait'). The purpose of this study was to describe the gait patterns of 60 children aged 6-17 years with CMT (CMTall) and distinguish differences based on functional weakness using the CMT Pediatric Scale (CMTPedS). Data were captured using Vicon Nexus system and compared to 50 healthy norms. Data were subdivided into three groups denoting increasing severity of dorsiflexion and plantarflexion weakness from the CMTPedS: no difficulty heel or toe walking (CMTND), difficulty heel walking (CMTDH), difficulty toe and heel walking (CMTDTH)...
May 8, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28522988/multiple-sites-ultrasonography-of-peripheral-nerves-in-differentiating-charcot-marie-tooth-type-1a-from-chronic-inflammatory-demyelinating-polyradiculoneuropathy
#5
Jingwen Niu, Liying Cui, Mingsheng Liu
INTRODUCTION: Multiple sites measurement of cross-sectional areas (CSA) by ultrasound was performed to differentiate Charcot-Marie-Tooth type 1A (CMT1A) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Nine patients with CMT1A, 28 patients with CIDP, and 14 healthy controls (HC) were recruited prospectively. Consecutive ultrasonography scanning was performed from wrist to axilla on median and ulnar nerves. CSAs were measured at 10 predetermined sites of each nerve...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28511074/charcot-arthropathy-of-the-knee-after-unsuccessful-spinal-stenosis-surgery-a-case-report
#6
Melih Cıvan, Önder Yazıcıoğlu, Mehmet Çakmak, Turgut Akgül
INTRODUCTION: Charcot arthropathy was first described in 1868 by Jean Martin Charcot as a progressive and destructive joint disease. Diabetes, polyneuropathy, syphilis, syrengomyelia and chronic alcoholism are the main causes of the disease. In this study we present a Charcot arthropathy of the knee seen after unsuccessful spinal stenosis surgery. PRESENTATION OF CASE: We report here a case of 62 years old patient with Charcot arthropathy at her left knee developed one year after spinal stenosis surgery...
May 5, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28509084/whole-exome-sequencing-identifies-a-novel-homozygous-frameshift-mutation-in-the-mtmr2-gene-as-a-causative-mutation-in-a-patient-with-charcot-marie-tooth-disease-type-4b1
#7
Tameemi Abdalla-Moady, Amir Peleg, Orit Sadeh, Khader Badarneh, Fuad Fares
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from whole blood leukocytes of affected family and normal subject. Whole-exome sequencing was performed using the Illumina HiSeq2500. The DNA region containing the identified mutation was amplified by PCR and sequenced using dye-terminator chemistry and the forward primer...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28507975/charcot-fracture-in-the-calcaneus-after-total-knee-arthroplasty-a-case-report
#8
Hirokazu Takai, Katsuhiko Kiyota, Nobutake Nakane, Tomoki Takahashi
INTRODUCTION: Only a few reports have described calcaneus fractures after total knee arthroplasty (TKA). Therefore, in this report, we describe a case of calcaneal avulsion fracture that occurred 5 weeks after a TKA in a relatively young male patient with syphilis. CASE REPORT: A 63-year-old man with syphilis had Charcot joint of the right knee. The patient developed severe varus deformity and contracture and experienced severe pain in the knee. TKA was performed to alleviate the pain and improve the patient's gait...
November 2016: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28506082/novel-use-of-active-leptospermum-honey-for-ringed-fixator-pin-site-care-in-diabetic-charcot-deformity-patients
#9
Alexander L Lazarides, Kamran S Hamid, Michael S Kerzner
INTRODUCTION: Open reduction with external fixation (OREF) utilizing fine wire ringed fixators for correction of Charcot deformity has gained popularity over the past decade. Pin site infections are a well-documented complication of external fixation as well as a driver of escalating health care costs. We aimed to demonstrate the safety and efficacy of a novel method of pin site care utilizing active Leptospermum honey-impregnated dressings (MediHoney) in diabetic patients undergoing deformity correction with OREF...
May 1, 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/28503382/poly-adp-ribosylation-is-present-in-murine-sciatic-nerve-fibers-and-is-altered-in-a-charcot-marie-tooth-1e-neurodegenerative-model
#10
Laura I Lafon Hughes, Carlos J Romeo Cardeillac, Karina B Cal Castillo, Salomé C Vilchez Larrea, José R Sotelo Sosa, Gustavo A Folle Ungo, Silvia H Fernández Villamil, Alejandra E Kun González
BACKGROUND: Poly-ADP-ribose (PAR) is a polymer synthesized by poly-ADP-ribose polymerases (PARPs) as a postranslational protein modification and catabolized mainly by poly-ADP-ribose glycohydrolase (PARG). In spite of the existence of cytoplasmic PARPs and PARG, research has been focused on nuclear PARPs and PAR, demonstrating roles in the maintenance of chromatin architecture and the participation in DNA damage responses and transcriptional regulation. We have recently detected non-nuclear PAR structurally and functionally associated to the E-cadherin rich zonula adherens and the actin cytoskeleton of VERO epithelial cells...
2017: PeerJ
https://www.readbyqxmd.com/read/28501821/genetic-and-clinical-characteristics-of-nefl-related-charcot-marie-tooth-disease
#11
Alejandro Horga, Matilde Laurà, Zane Jaunmuktane, Nivedita U Jerath, Michael A Gonzalez, James M Polke, Roy Poh, Julian C Blake, Yo-Tsen Liu, Sarah Wiethoff, Conceição Bettencourt, Michael Pt Lunn, Hadi Manji, Michael G Hanna, Henry Houlden, Sebastian Brandner, Stephan Züchner, Michael Shy, Mary M Reilly
OBJECTIVES: To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (NEFL). METHODS: Combined analysis of newly identified patients with NEFL-related CMT and all previously reported cases from the literature. RESULTS: Five new unrelated patients with CMT carrying the NEFL mutations P8R and N98S and the novel variant L311P were identified...
May 13, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28501142/charcot-past-and-present
#12
REVIEW
C G Goetz
Jean-Martin Charcot (1825-1893) was the preeminent neurologist of the nineteenth century. Several of his major contributions remain fully relevant to contemporary neurology, and this essay highlights three areas of particular importance to the modern neurologist: the anatomo-clinical method that Charcot developed as the anchor of neurological study; the integration of new scientific discoveries from other fields as a core strategy for neurological advancement; and the role of heredity as the fundamental etiological focus to the understanding of the pathogenesis of primary neurological disorders...
May 10, 2017: Revue Neurologique
https://www.readbyqxmd.com/read/28500867/hospitalization-for-charcot-neuroarthropathy-in-diabetes-a-population-study-in-italy
#13
Roberto Anichini, Laura Policardo, Flavia Lucia Lombardo, Elisabetta Salutini, Anna Tedeschi, Secondina Viti, Piergiorgio Francia, Enrico Brocco, Marina Maggini, Giuseppe Seghieri, Alessandra De Bellis
AIMS: To provide data on hospitalization and incidence rates of Charcot neuroarthropathy (CN) and its relation to lower limbs' amputations/revascularizations in population with diabetes of Italy as well as of one of its regions (Tuscany). METHODS: Hospitalizations with CN diagnosis (codes ICD-9-CM: 7130, 7135, 7138) have been recorded in people with diabetes over years 2003-2013 in Italy and 2008-2015 in Tuscany. Amputations, peripheral vascular disease, revascularizations and infections were likewise evaluated...
April 28, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28500667/magnetic-resonance-neurography-and-diffusion-tensor-imaging-of-the-peripheral-nerves-in-patients-with-cmt-type-1a
#14
Michael Vaeggemose, Signe Vaeth, Mirko Pham, Steffen Ringgaard, Uffe B Jensen, Hatice Tankisi, Niels Ejskjaer, Sabine Heiland, Henning Andersen
INTRODUCTION: Investigation of peripheral neuropathies by magnetic resonance neurography (MRN) may provide increased diagnostic accuracy when performed in combination with diffusion tensor imaging (DTI). The aim of this study was to evaluate DTI in the detection of neuropathic abnormalities in Charcot-Marie-Tooth-type-1A (CMT1A). METHODS: MR imaging of the sciatic and tibial nerves, including MRN and DTI, was prospectively performed in 15 CMT1A patients and 30 healthy-controls (HC)...
May 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28497248/-aseptic-loosening-of-total-ankle-replacement-one-stage-revision-ankle-arthroplasty
#15
G Pagenstert, M D Wimmer, M Jacxsens, C L Saltzman, A Barg
OBJECTIVE: To revise one or both loosened prosthesis components, to achieve postoperative pain relief, and preserve ankle range of motion. INDICATIONS: Aseptic loosening of the tibial and/or talar ankle prosthesis components without substantial bone defect of the tibial or talar bone stock. CONTRAINDICATIONS: General surgical or anesthesiological risks, infections, critical soft tissue conditions, nonmanageable hindfoot instability, neurovascular impairment of the lower extremity, neuroarthropathy (e...
May 11, 2017: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/28495047/similar-clinical-pathological-and-genetic-features-in-chinese-patients-with-autosomal-recessive-and-dominant-charcot-marie-tooth-disease-type-2k
#16
Jun Fu, Shixu Dai, Yuanyuan Lu, Rui Wu, Zhaoxia Wang, Yun Yuan, He Lv
Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause rare subtypes of Charcot-Marie-Tooth disease (CMT2K and CMT4A). CMT2K is an axonal neuropathy while CMT4A is a demyelinating type. In a series of 169 Chinese CMT patients (79 CMT1, 52 CMT2 and 38 unclassified), four unrelated patients (2.37%) were identified with GDAP1 mutations, including two with autosomal recessive CMT2K (AR-CMT2K) and two dominant CMT2K (AD-CMT2K). All patients had disease onset before 5 years of age, and presented with muscle weakness, atrophy, and mild sensory disturbance in distal limbs...
April 20, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28495045/deterioration-in-gait-and-functional-ambulation-in-children-and-adolescents-with-charcot-marie-tooth-disease-over-12-months
#17
Rachel Kennedy, Kate Carroll, Kade L Paterson, Monique M Ryan, Jennifer L McGinley
Children and adolescents with Charcot-Marie-Tooth disease (CMT) report problems with gait. Little is known about gait changes over time in children with this degenerative disease. This prospective longitudinal study investigated change in spatio-temporal gait parameters and functional ambulation. Two assessments were conducted 12 months apart. Assessments included: barefoot gait on an electronic walkway; functional ambulation with a six minute walk test and the Functional Mobility Scale; and disease severity with the CMT Pediatric Scale...
April 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28493438/deficient-activity-of-alanyl-trna-synthetase-underlies-an-autosomal-recessive-syndrome-of-progressive-microcephaly-hypomyelination-and-epileptic-encephalopathy
#18
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R Andriola, R Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J Barry, Jennifer N Partlow, A James Barkovich, Jiqiang Ling, Ganeshwaran H Mochida
Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth (CMT) disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. Here we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy and spasticity...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#19
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28488601/1892-and-the-tribulations-of-joseph-babinski
#20
Kalyan B Bhattacharyya
In the early 1880s, Joseph Babinski was appointed as Chef de Clinique under Jean-Martin Charcot at Salpétrière, Paris, in France. He appeared for the post of Professeur Agrégé, the pinnacle of academic distinction in France in 1892. Charles Bouchard, the earliest pupil of Charcot, who described the Charcot-Bouchard aneurysm along with his master, was the Chief of the Board of Jury. Charcot and Bouchard did not see eye to eye in the later period, and when German Sée, an external examiner did not join the board of examiners following illness, Bouchard, instead of seeking the assistance of an alternate examiner, employed the special right of Vote of Absence...
May 2017: Neurology India
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