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https://www.readbyqxmd.com/read/28633781/beaming-in-charcot-arthropathy-intramedullary-fixation-for%C3%A2-complicated-reconstructions-a-cadaveric-study
#1
Corey M Fidler, Benjamin C Watson, Christopher W Reb, Christopher F Hyer
In the modern treatment of Charcot neuroarthropathy, beam screw fixation is an alternative to plate and screw fixation. Exposure is minimized for implantation, and this technique supports the longitudinal columns of the foot as a rigid load-sharing construct. A published data review identified a paucity of data regarding metatarsal intramedullary canal morphology relevant to beam screw fixation. The purpose of the present study was to describe metatarsal diaphyseal morphology qualitatively and quantitatively in an effort to provide data that can be used by surgeons when selecting axially based intramedullary fixation...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633771/relationship-of-cuboid-height-to-plantar-ulceration-and-other-radiographic-parameters-in-midfoot-charcot-neuroarthropathy
#2
Andrew J Meyr, Joshua A Sebag
The objective of the present investigation was to examine the effect of cuboid height on the presence of plantar midfoot ulceration and the relationship of cuboid height to other commonly performed radiographic parameters during evaluation of midfoot Charcot neuroarthropathy. A retrospective analysis was performed of 68 feet in 60 subjects who met the inclusion criteria. We did not observe statistically significant differences in the presence of a plantar midfoot ulceration when considering a cuboid height threshold of 0...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633435/mcm3ap-in-recessive-charcot-marie-tooth-neuropathy-and-mild-intellectual-disability
#3
Emil Ylikallio, Rosa Woldegebriel, Manuela Tumiati, Pirjo Isohanni, Monique M Ryan, Zornitza Stark, Maie Walsh, Sarah L Sawyer, Katrina M Bell, Alicia Oshlack, Paul J Lockhart, Mariia Shcherbii, Alejandro Estrada-Cuzcano, Derek Atkinson, Taila Hartley, Martine Tetreault, Inge Cuppen, W Ludo van der Pol, Ayse Candayan, Esra Battaloglu, Yesim Parman, Koen L I van Gassen, Marie-José H van den Boogaard, Kym M Boycott, Liisa Kauppi, Albena Jordanova, Tuula Lönnqvist, Henna Tyynismaa
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild to moderate intellectual disability was present in seven of nine affected individuals. The affected individuals were either compound heterozygous or homozygous for different MCM3AP variants, which were predicted to cause depletion of GANP or affect conserved amino acids with likely importance for its function...
June 19, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#4
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, Charles Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes an Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
June 20, 2017: Biochemistry
https://www.readbyqxmd.com/read/28632967/prevalence-and-orthopedic-management-of-foot-and-ankle-deformities-in-charcot-marie-tooth-disease
#5
Matilde Laurá, Dishan Singh, Gita Ramdharry, Jasper Morrow, Mariola Skorupinska, Davide Pareyson, Joshua Burns, Richard A Lewis, Steve 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 approache between centers in the same country and between different countries. METHODS: We assessed the frequency of foot deformities and surgery among patients recruited to the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable...
June 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28630759/the-adult-cavus-foot
#6
Carlos Maynou, Christophe Szymanski, Alexis Thiounn
Cavovarus deformity can be classified by the severity of malalignment ranging from a subtle and flexible to a severe and fixed cavovarus deformity of the foot.In the mild cavovarus foot, careful clinical assessment is required to identify the deformity.Weight-bearing radiographs are necessary to indicate the apex of the deformity and quantify the correction required.Surgery is performed when conservative measures fail and various surgical procedures have been described, including a combination of soft-tissue releases, tendon transfers and osteotomies, all with the aim of achieving a plantigrade and balanced foot...
May 2017: EFORT open reviews
https://www.readbyqxmd.com/read/28617998/schwann-cell-specific-deletion-of-the-endosomal-pi-3-kinase-vps34-leads-to-delayed-radial-sorting-of-axons-arrested-myelination-and-abnormal-erbb2-erbb3-tyrosine-kinase-signaling
#7
Anne M Logan, Anna E Mammel, Danielle C Robinson, Andrea L Chin, Alec F Condon, Fred L Robinson
The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a recurring cause of demyelinating Charcot-Marie-Tooth (CMT) peripheral neuropathy. Here, we investigated the role of Vps34, and PI3P, in mouse Schwann cells by selectively deleting Vps34 in this cell type. Vps34-Schwann cell knockout (Vps34(SCKO) ) mice show severe hypomyelination in peripheral nerves...
June 15, 2017: Glia
https://www.readbyqxmd.com/read/28601552/deletion-of-p2-promoter-of-gjb1-gene-a-cause-of-charcot-marie-tooth-disease
#8
R Kulshrestha, S Burton-Jones, T Antoniadi, M Rogers, Z Jaunmuktane, S Brandner, N Kiely, R Manuel, T Willis
X-linked Charcot-Marie-Tooth disease (CMT) is the second most common cause of CMT, and is usually caused by mutations in the gap junction protein beta 1 (GJB1) gene. This gene has nerve specific P2 promoter that work synergistically with SOX10 and EGR2 genes to initiate transcription. Mutation in this region is known to cause Schwann cell dysfunction. A single large family of X linked peripheral neuropathy was identified in our practice. Next generation sequencing for targeted panel assay identified an upstream exon-splicing deletion identified extending from nucleotide c...
May 4, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28595831/-charcot-marie-tooth-disease-associated-with-hip-dysplasia-in-an-adolescent
#9
T Langlais, J-C Leonard, C Ursu, C Morin
Charcot-Marie-Tooth disease (CMT) is classified into hereditary motor and sensory neuropathy and can induce severe neuro-orthopaedics deformities, disabling at an early age. Hip dysplasia is present in 6% of CMT patients affecting preferentially CMT1 patients and can appear from the age of 8 years. The pathophysiological is paradoxical because we are confronted with proximal osteoarthritis deformations but genetics research brings use new trail. The main functional complaint is a hip joint pain during walking...
June 5, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28595321/mitochondrial-deficits-and-abnormal-mitochondrial-retrograde-axonal-transport-play-a-role-in-the-pathogenesis-of-mutant-hsp27-induced-charcot-marie-tooth-disease
#10
Bernadett Kalmar, Amy Innes, Klaus Wanisch, Alicia Koyen Kolaszynska, Amelie Pandraud, Gavin Kelly, Andrey Y Abramov, Mary M Reilly, Giampietro Schiavo, Linda Greensmith
Mutations in the small heat shock protein Hsp27, encoded by the HSPB1 gene, have been shown to cause Charcot Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN). Protein aggregation and axonal transport deficits have been implicated in the disease. In this study, we conducted analysis of bidirectional movements of mitochondria in primary motor neuron axons expressing wild type and mutant Hsp27. We found significantly slower retrograde transport of mitochondria in Ser135Phe, Pro39Leu and Arg140Gly mutant Hsp27 expressing motor neurons than in wild type Hsp27 neurons, although anterograde movement velocities remained normal...
June 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28594869/compound-heterozygous-mutations-in-glycyl-trna-synthetase-gars-cause-mitochondrial-respiratory-chain-dysfunction
#11
Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Glycyl-tRNA synthetase (GARS; OMIM 600287) is one of thirty-seven tRNA-synthetase genes that catalyses the synthesis of glycyl-tRNA, which is required to insert glycine into proteins within the cytosol and mitochondria. To date, eighteen mutations in GARS have been reported in patients with autosomal-dominant Charcot-Marie-Tooth disease type 2D (CMT2D; OMIM 601472), and/or distal spinal muscular atrophy type V (dSMA-V; OMIM 600794). In this study, we report a patient with clinical and biochemical features suggestive of a mitochondrial respiratory chain (MRC) disorder including mild left ventricular posterior wall hypertrophy, exercise intolerance, and lactic acidosis...
2017: PloS One
https://www.readbyqxmd.com/read/28591394/charcot-s-famous-secretaries
#12
Hélio Afonso Ghizoni Teive, Francisco Manoel Branco Germiniani, Renato Puppi Munhoz, Olivier Walusinski
At the pinnacle of his career, Professor Charcot had four secretaries: Charles Féré, Pierre Marie, Georges Gilles de la Tourette and Georges Guinon. They helped the great founder of neurology with his activities at La Salpêtrière Hospital and his private clinic, examining patients before he made the final diagnosis.
May 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28587902/involvement-of-charcot-marie-tooth-disease-gene-mitofusin-2-expression-in-paclitaxel-induced-mechanical-allodynia-in-rats
#13
Yuta Yamashita, Keiichi Irie, Akane Kochi, Nami Kimura, Toshinobu Hayashi, Koichi Matsuo, Takayuki Myose, Kazunori Sano, Takafumi Nakano, Yumi Takase, Yoshihiko Nakamura, Tomomitsu Satho, Kenji Mishima, Kenichi Mishima
Paclitaxel induces peripheral neuropathy, which is dose-limiting and results in loss of quality of life. Therefore, the prevention and treatment of paclitaxel-induced peripheral neuropathy are major concerns in clinical cancer therapy. However, the detailed mechanisms have not been fully elucidated. It has recently been reported that allelic variability in the Charcot-Marie-Tooth disease (CMT) genes, mitofusin 2 (MFN2), Rho guanine nucleotide exchange factor 10 (ARHGEF10), and periaxin (PRX), affected paclitaxel-induced peripheral neuropathy in clinical cases...
June 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28581500/hyperactivation-of-hush-complex-function-by-charcot-marie-tooth-disease-mutation-in-morc2
#14
Iva A Tchasovnikarova, Richard T Timms, Christopher H Douse, Rhys C Roberts, Gordon Dougan, Robert E Kingston, Yorgo Modis, Paul J Lehner
Dominant mutations in the MORC2 gene have recently been shown to cause axonal Charcot-Marie-Tooth (CMT) disease, but the cellular function of MORC2 is poorly understood. Here, through a genome-wide CRISPR-Cas9-mediated forward genetic screen, we identified MORC2 as an essential gene required for epigenetic silencing by the HUSH complex. HUSH recruits MORC2 to target sites in heterochromatin. We exploited a new method, differential viral accessibility (DIVA), to show that loss of MORC2 results in chromatin decompaction at these target loci, which is concomitant with a loss of H3K9me3 deposition and transcriptional derepression...
June 5, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28576196/management-of-osteomyelitis-and-bone-loss-in-the-diabetic-charcot-foot-and-ankle
#15
REVIEW
Daniel J Short, Thomas Zgonis
Bone loss and destruction due to diabetic Charcot neuroarthropathy (CN) and osteomyelitis of the foot and ankle is a challenging clinical condition when lower extremity preservation is considered. Resection and excision of osteomyelitis and associated nonviable soft tissue can lead into large osseous and soft tissue defects that will most likely need the utilization of bone grafting and subsequent arthrodesis for stability and anatomic alignment. In the diabetic population with peripheral neuropathy, osseous instability can lead to subsequent lower extremity deformity, ulceration, infection and/or amputation...
July 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/28576195/tibiotalocalcaneal-arthrodesis-for-foot-and-ankle-deformities
#16
REVIEW
Patrick R Burns, Augusta Dunse
Tibiotalocalcaneal arthrodesis is a safe and viable option to treat patients with arthridities affecting ankle and subtalar joints, neuromuscular disorders, avascular necrosis of the talus, failed ankle arthrodesis, instability, and Charcot neuroarthropathy. Choice of incision and fixation is based on deformity, pathology, prior surgery and hardware, and surgeon comfort and preference. Intramedullary nails offer high primary stability, reduce sustained soft tissue damage, and may allow for earlier return to activities than traditional plate or screw constructs...
July 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/28575008/plasma-metabolome-and-skin-proteins-in-charcot-marie-tooth-1a-patients
#17
Beatriz Soldevilla, Carmen Cuevas-Martín, Clara Ibáñez, Fulvio Santacatterina, María A Alberti, Carolina Simó, Carlos Casasnovas, Celedonio Márquez-Infante, Teresa Sevilla, Samuel I Pascual, María Sánchez-Aragó, Carmen Espinos, Francesc Palau, José M Cuezva
OBJECTIVE: Charcot-Marie-Tooth 1A (CMT1A) disease is the most common inherited neuropathy that lacks of therapy and of molecular markers to assess disease severity. Herein, we have pursued the identification of potential biomarkers in plasma samples and skin biopsies that could define the phenotype of CMT1A patients at mild (Mi), moderate (Mo) and severe (Se) stages of disease as assessed by the CMT neuropathy score to contribute to the understanding of CMT pathophysiology and eventually inform of the severity of the disease...
2017: PloS One
https://www.readbyqxmd.com/read/28571527/assessment-and-management-of-acute-spinal-cord-injury-from-point-of-injury-to-rehabilitation
#18
Laureen D Hachem, Christopher S Ahuja, Michael G Fehlings
CONTEXT: Spinal cord injury (SCI) is a devastating condition that can lead to significant neurological impairment and reduced quality of life. Despite advancements in our understanding of the pathophysiology and secondary injury mechanisms involved in SCI, there are currently very few effective treatments for this condition. The field, however, is rapidly changing as new treatments are developed and key discoveries are made. METHODS: In this review, we outline the pathophysiology, management, and long-term rehabilitation of individuals with traumatic SCI...
June 1, 2017: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28558379/slc25a46-mutations-associated-with-autosomal-recessive-cerebellar-ataxia-in-north-african-families
#19
Monia B Hammer, Jinhui Ding, Fanny Mochel, Ghada Eleuch-Fayache, Perrine Charles, Marie Coutelier, J Raphael Gibbs, Sampath K Arepalli, Sean B Chong, Dena G Hernandez, Elisa Majounie, Steven Clipman, Yosr Bouhlal, Houda Nehdi, Alexis Brice, Faycal Hentati, Giovanni Stevanin, Rim Amouri, Alexandra Durr, Andrew B Singleton
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features are found. OBJECTIVE: To identify the genetic origin of the cerebellar ataxia for 3 consanguineous North African families presenting with ARCA. METHODS: Genome-wide high-density SNP genotyping and whole-exome sequencing were performed followed by Sanger sequencing for mutation confirmation...
May 31, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/28555600/audiological-findings-in-charcot-marie-tooth-disease-type-4c
#20
Rafael Sivera, Laura Cavalle, Juan J Vílchez, Carmen Espinós, Herminio Pérez Garrigues, Teresa Sevilla
OBJECTIVE: Charcot-Marie-Tooth disease type 4C (CMT4C) is a hereditary demyelinating early onset neuropathy with prominent unsteadiness and occasional cranial nerve involvement. Vestibulopathy caused by the dysfunction of cranial nerve VIII has been demonstrated in a high percentage of these patients, but the presence and degree of auditory neuropathy are unknown. The aim of the study was to characterize the hearing abnormalities of a series of patients with CMT4C and to determine the presence and severity of auditory neuropathy (AN) in these patients...
April 2017: Journal of International Advanced Otology
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