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charcot fusion

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
James Richman, Adam Cota, Steven Weinfeld
BACKGROUND: Surgical strategies to address deformities of the ankle and hindfoot in patients with Charcot arthropathy include the use of retrograde intramedullary nails and ring fixators. The literature has not shown superiority of one technique over the other. This study presents a single surgeon's case series of Charcot arthropathy patients treated with either a ring fixator or retrograde intramedullary nail to achieve tibiotalocalcaneal arthrodesis. METHODS: We performed a retrospective analysis of 27 consecutive patients with Charcot arthropathy who underwent a tibiotalocalcaneal arthrodesis using either a retrograde intramedullary (IM) nail (n = 16 patients) or a ring fixator (RF) (n = 11 patients) by a single surgeon...
October 2, 2016: Foot & Ankle International
E López-Gavito, P Parra-Téllez, J Vázquez-Escamilla
Diabetes mellitus is a major chronic degenerative disease, which currently is taking on alarming proportions in the population of our country. Neuropathic arthropathy is one of the most interesting degenerative joint disorders and increasingly common within the orthopedic pathology. It is defined as a progressive degenerative arthropathy, chronic and affecting one or more peripheral joints, and develops as a result of the lack of sensory perception normal in the innervation of joints. As a result the joints of the feet are subjected to trauma and repetitive injury causing a neurotraumatic effect with progressive damage to the joints of the hindfoot, midfoot and forefoot...
January 2016: Acta Ortopédica Mexicana
Ji-Cheng Gong, Bing-Hua Zhou, Xu Tao, Cheng-Song Yuan, Kang-Lai Tang
BACKGROUND: Tibiotalocalcaneal arthrodesis with headless compression screws has not been previously reported. We hypothesized that these screws could be suitable for tibiotalocalcaneal arthrodesis because of their special design. This study aimed to evaluate the clinical outcomes of patients undergoing tibiotalocalcaneal arthrodesis with headless compression screws for the treatment of severe arthropathy of the ankle and subtalar joint. METHODS: From 2010 to 2015, 23 patients with severe ankle and subtalar arthropathy underwent tibiotalocalcaneal arthrodesis...
2016: Journal of Orthopaedic Surgery and Research
Ufuk Aydinli, Nilesh Kumar Mohan, Kursat Kara
BACKGROUND: Charcot spine arthropathy (posttraumatic neuroarthropathy of the spine) has been reported to be a very late and rare complication of spinal cord injury. Charcot of the cervicothoracic and upper thoracic region rarely is reported in the literature. Charcot spinal arthropathy is a cause of progressive deformity and may present as late as 30 years after the original spinal cord injury. This is more common in paraplegic patients who are actively ambulating. CASE DESCRIPTION: A 56-year-old patient with complete paraplegia for approximately 20 years after spinal cord injury presented with severe kyphous deformity and instability of thoracolumbar spine...
October 2016: World Neurosurgery
L Daniel Latt, Kathryn Elizabeth Smith, Kenneth Michael Dupont
: Hindfoot (tibiotalocalcaneal or TTC) arthrodesis is commonly used to treat concomitant arthritis of the ankle and subtalar joints. Simultaneous fusion of both joints can be difficult to achieve especially in patients with impaired healing due to smoking, diabetes mellitus, or Charcot neuroarthropathy. Conventional intramedullary fixation devices allow for compression to be applied at the time of surgery, but this compression can be lost due to bone resorption or settling, leading to impaired healing...
July 7, 2016: Foot & Ankle Specialist
Kyle S Peterson, W Drew Chapman, Christopher F Hyer, Gregory C Berlet
Tibiotalocalcaneal arthrodesis is a salvage procedure for severe hindfoot/ankle deformities, arthritis, avascular necrosis of the talus, failed total ankle replacement, and Charcot neuroarthropathy. The methods for fixation include anterior and lateral plates, screws, retrograde intramedullary nails, and external fixation. The purpose of the present report was to describe the short-term radiographic outcomes and technique using a posterior approach with an anatomic-specific locking plate for tibiotalocalcaneal arthrodesis...
September 2016: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
Luke N Ledbetter, Karen L Salzman, R Kent Sanders, Lubdha M Shah
Spinal neuroarthropathy (SNA), or Charcot spine, is a progressive destructive arthropathy occurring after loss of neuroprotective sensation and proprioceptive reflexes. Clinical diagnosis is difficult because of the variable length to presentation after initial neurologic damage and the limited symptoms given preexisting neurologic deficits. SNA is also a diagnostic challenge because its imaging features are similar to those of spinal conditions such as discitis-osteomyelitis, osseous tuberculosis, hemodialysis-related spondyloarthropathy, and pseudarthrosis...
May 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
Takuya Yagi, Daisuke Ito, Norihiro Suzuki
The tropomyosin-receptor kinase fused gene(TFG), which is located on chromosome 3q12.2, was originally identified as a fusion partner that results in the formation of oncogenic products associated with multiple cancers. TFG protein interacts directly with Sec16, the scaffolding protein for coat protein II-coated vesicles that regulate endoplasmic reticulum (ER)-to-Golgi transport at ER exit sites. In 2012, a heterozygous mutation of TFG was identified as the causative gene for autosomal-dominant hereditary motor and sensory neuropathy with proximal dominant involvement...
April 2016: Journal of Neuropathology and Experimental Neurology
Sarah Ettinger, Christian Plaass, Leif Claassen, Christina Stukenborg-Colsman, Daiwei Yao, Kiriakos Daniilidis
Charcot neuropathy (CN) is a severe joint disease that makes surgical planning very challenging, because it is combined with ankle instability, serious deformities, and recurrent ulceration. The aim of the present study was to examine the rate of bone fusion after external or internal fixation in patients with CN. We retrospectively examined 58 patients with CN who had undergone reconstruction of the ankle either with tibiotalocalcaneal or tibiocalcaneal arthrodesis. The mean age was 59.1 (range 26 to 81) years at surgery...
May 2016: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
Sarah Ettinger, Christina Stukenborg-Colsman, Christian Plaass, Daiwei Yao, Leif Claassen, Stefan Berger, Hazibullah Waizy, Christoph Maria Becher, Kiriakos Daniilidis
INTRODUCTION: Tibiocalcaneal (TC) arthrodesis is a limb salvage method for patients with severe deformities combined with necrosis and/or luxation of the talus. The aim of this study was to examine the clinical and radiological outcome of TC arthrodesis. MATERIALS AND METHODS: This retrospective study identified 12 patients with luxation and/or necrosis of the talus, due to charcot neuroarthropathy (83.3 %) or traumatic injuries (16.7 %). All patients underwent TC arthrodesis by an external fixator or nail arthrodesis...
April 2016: Archives of Orthopaedic and Trauma Surgery
Kota Watanabe
The orthopedic manifestations in patients with Charcot-Marie-Tooth disease include deformity and dysfunction of the extremities and spine. Conservative treatment is the first choice. Orthosis and rehabilitation can improve function, and are important for the prevention of joint contractures. Foot problems are most commonly observed and require surgical treatment. Foot deformities include pes cavus, cavovarus, claw toes, or drop foot. Single or combined surgeries selected for soft tissues are plantar release, tendon transfer, or Achilles tendon lengthening, and those for bones are osteotomies and joint fusions...
January 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Rajnish Bharadwaj, Kathleen M Cunningham, Ke Zhang, Thomas E Lloyd
FIG4 is a phosphoinositide phosphatase that is mutated in several diseases including Charcot-Marie-Tooth Disease 4J (CMT4J) and Yunis-Varon syndrome (YVS). To investigate the mechanism of disease pathogenesis, we generated Drosophila models of FIG4-related diseases. Fig4 null mutant animals are viable but exhibit marked enlargement of the lysosomal compartment in muscle cells and neurons, accompanied by an age-related decline in flight ability. Transgenic animals expressing Drosophila Fig4 missense mutations corresponding to human pathogenic mutations can partially rescue lysosomal expansion phenotypes, consistent with these mutations causing decreased FIG4 function...
February 15, 2016: Human Molecular Genetics
Manuel J Pellegrini, Adam P Schiff, Samuel B Adams, James K DeOrio, Mark E Easley, James A Nunley
BACKGROUND: A number of operative approaches have been described to perform a tibiotalocalcaneal (TTC) arthrodesis. Here we present the largest reported series of a posterior Achilles tendon-splitting approach for TTC fusion. METHODS: With institutional review board approval, a retrospective review of the TTC fusions performed at a single academic institution was carried out. Orthopedic surgeons specializing in foot and ankle surgery performed all procedures. Eligible patients included all those who underwent a TTC fusion via a posterior approach and had at least a 2-year follow-up...
March 2016: Foot & Ankle International
Martinus Richter, Thomas Mittlmeier, Stefan Rammelt, Per-Henrik Agren, Sarah Hahn, Anica Eschler
BACKGROUND: Charcot osteo-neuroarthropathy (CN) of the foot can induce severe instability and deformity. Results of a consecutive clinical multi-centre study with Midfoot Fusion Bolt (MFB, Synthes GmbH, Oberdorf, Switzerland) are reported. METHODS: All patients (aged 18 years and older) treated between 2009 and 2013 with surgical reconstruction of the midfoot with MFB for CN were included. Demographics, pre-surgical health status, details of foot pathology, details of surgery, postoperative treatment, treatment failure, and adverse events were registered...
December 2015: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
He Lv, Lu Wang, Wei Zhang, Zhaoxia Wang, Yuehuan Zuo, Jing Liu, Yun Yuan
BACKGROUND: Charcot-Marie-Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2). CMT2A had a large variety of clinical symptoms and several cohort studies were published recently. This study is to summarized the clinical, electrophysiological, pathological and genetic features in Han Chinese CMT2A. METHODS: 20 patients from 12 unrelated Chinese families with MFN2 related CMT2A were collected. Clinical symptom, nerve conduction velocity study, sural nerve pathology and MFN2 gene mutation were retrospectively analyzed...
November 15, 2015: Journal of the Neurological Sciences
Andrew R Hsu, J Kent Ellington, Samuel B Adams
UNLABELLED: Tibiotalocalcaneal (TTC) arthrodesis using an intramedullary hindfoot nail is a common procedure for deformity correction and the treatment of combined tibiotalar and subtalar end-stage arthritis. Nonunion at one or both fusion sites is a difficult complication that can result in reoperation, significant morbidity, and below-knee amputation. There is currently a need for sustained compression across fusion sites using a TTC hindfoot nail with good mechanical stability. The DynaNail TTC Fusion System (MedShape, Inc, Atlanta, GA) uses an internal nitinol compression element to apply sustained compression across the tibiotalar and subtalar joints after surgery...
October 2015: Foot & Ankle Specialist
Robert Schmidt, Prasitha Mani, Deborah Weber
Neuromuscular disease can present many challenges to monitoring technologists in the operating room. This became evident when we received a request to monitor a patient with Charcot-Marie-Tooth disease during posterior spinal instrumentation and fusion for scoliosis. It has been well documented that the nerve conduction velocity is delayed with Charcot-Marie-Tooth disease (Pareyson et al. 2006). The latencies we normally encounter for somatosensory and motor evoked potentials for the upper extremity responses are between 15 and 20 msec, and for the lower extremity responses, are usually between 25 and 35 msec...
June 2015: Neurodiagnostic Journal
Alexander J Abrams, Robert B Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael A Gonzalez, Ion J Campeanu, Laurie B Griffin, Saskia Groenewald, Alleene V Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M Ahmed, Kristen L Sund, Xinjian Wang, Laura A Krueger, Yanyan Peng, Carlos E Prada, Cynthia A Prows, Elizabeth K Schorry, Anthony Antonellis, Holly H Zimmerman, Omar A Abdul-Rahman, Yaping Yang, Susan M Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H Németh, Valerio Carelli, Taosheng Huang, Stephan Zuchner, Julia E Dallman
Dominant optic atrophy (DOA) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by mutations in the canonical mitochondrial fusion genes OPA1 and MFN2, respectively. In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far. By whole-exome sequencing of patients with optic atrophy and CMT2, we identified four families with recessive mutations in SLC25A46...
August 2015: Nature Genetics
Giulia Stuppia, Federica Rizzo, Giulietta Riboldi, Roberto Del Bo, Monica Nizzardo, Chiara Simone, Giacomo P Comi, Nereo Bresolin, Stefania Corti
Mitofusin 2 (MFN2) is a GTPase dynamin-like protein of the outer mitochondrial membrane, encoded in the nuclear genome by the MFN2 gene located on the short (p) arm of chromosome 1. MFN2 protein is involved in several intracellular pathways, but is mainly involved in a network that has an essential role in several mitochondrial functions, including fusion, axonal transport, interorganellar communication and mitophagy. Mutations in the gene encoding MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide clinical phenotype that involves the central and peripheral nervous system...
September 15, 2015: Journal of the Neurological Sciences
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