keyword
MENU ▼
Read by QxMD icon Read
search

charcot fusion

keyword
https://www.readbyqxmd.com/read/28933354/mitochondrial-dynamics-in-mitochondrial-diseases
#1
REVIEW
Juan M Suárez-Rivero, Marina Villanueva-Paz, Patricia de la Cruz-Ojeda, Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, José A Sánchez-Alcázar
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics, including mitochondrial fission/fusion, movements and turnover, are essential for the mitochondrial network quality control. Alterations in mitochondrial dynamics can cause neuropathies such as Charcot-Marie-Tooth disease in which mitochondrial fusion and transport are impaired, or dominant optic atrophy which is caused by a reduced mitochondrial fusion. On the other hand, mitochondrial dysfunction in primary mitochondrial diseases promotes reactive oxygen species production that impairs its own function and dynamics, causing a continuous vicious cycle that aggravates the pathological phenotype...
December 23, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28859335/a-new-mutation-in-fig4-causes-a-severe-form-of-cmt4j-involving-trpv4-in-the-pathogenic-cascade
#2
Benoit J Gentil, Erin O'Ferrall, Colin Chalk, Luis F Santana, Heather D Durham, Rami Massie
Mutations in FIG4, coding for a phosphoinositol(3,5) bisphosphate 5' phosphatase and involved in vesicular trafficking and fusion, have been shown causing a recessive form of Charcot-Marie-Tooth (CMT). We have identified a novel intronic mutation in the FIG4 in a wheel-chair bound patient presenting with a severe form of CMT4J and provide a longitudinal study. Investigations indicated a demyelinating sensorimotor polyneuropathy with diffuse active denervation and severe axonal loss. Genetic testing revealed that the patient is heterozygous for 2 FIG4 mutations, p...
September 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28738852/tertiary-syphilis-in-the-lumbar-spine-a-case-report
#3
Yang Bai, Feng Niu, Lidi Liu, Hui Sha, Yimei Wang, Song Zhao
BACKGROUND: The incidence of tertiary syphilis involvement in the spinal column with destructive bone lesions is very rare. It is difficult to establish the correct diagnosis from radiographs and histological examination alone. Limited data are available on surgical treatment to tertiary syphilitic spinal lesions. In this article, we report a case of tertiary syphilis in the lumbar spine with osteolytic lesions causing cauda equina compression. CASE PRESENTATION: A 44-year-old man who suffered with low back pain for 6 months and progressive radiating pain at lower extremity for 1 week...
July 24, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28469666/anatomical-distributional-defects-in-mutant-genes-associated-with-dominant-intermediate-charcot-marie-tooth-disease-type-c-in-an-adenovirus-mediated-mouse-model
#4
SeoJin Lee, Sandesh Panthi, Hyun Woo Jo, Jaeyoung Cho, Min-Sik Kim, Na Young Jeong, In Ok Song, Junyang Jung, Youngbuhm Huh
Dominant intermediate Charcot-Marie-Tooth disease type C (DI-CMTC) is a dominantly inherited neuropathy that has been classified primarily based on motor conduction velocity tests but is now known to involve axonal and demyelination features. DI-CMTC is linked to tyrosyl-tRNA synthetase (YARS)-associated neuropathies, which are caused by E196K and G41R missense mutations and a single de novo deletion (153-156delVKQV). It is well-established that these YARS mutations induce neuronal dysfunction, morphological symptoms involving axonal degeneration, and impaired motor performance...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28222170/biomechanical-investigation-of-two-plating-systems-for-medial-column-fusion-in-foot
#5
Paul Simons, Theresia Sommerer, Ivan Zderic, Dieter Wahl, Mark Lenz, Hristo Skulev, Matthias Knobe, Boyko Gueorguiev, R Geoff Richards, Kajetan Klos
BACKGROUND: Arthrodesis of the medial column (navicular, cuneiform I and metatarsal I) is performed for reasons such as Charcot arthropathy, arthritis, posttraumatic reconstruction or severe pes planus. However, the complication rate is still high and mainly resulting from inadequate fixation. Special plates, designed for medial column arthrodesis, seem to offer potential to reduce the complication rate. The aim of this study was to investigate biomechanically plantar and dorsomedial fusion of the medial column using two new plating systems...
2017: PloS One
https://www.readbyqxmd.com/read/28159052/complex-ankle-arthrodesis-with-step-cut-osteotomy-in-charcot-arthropathy-with-bone-loss
#6
Sean Booth, Moez Ballal, Anand Pillai
We report a case of a complex limb salvage ankle arthrodesis in a patient with Charcot arthropathy. A step-cut osteotomy was performed in order to tackle the issues of anterior tibial bone loss; worsening leg length discrepancy; soft tissue contraction; joint instability and high risk of non-union. The construct formed by the step-cut allowed for the preservation of good bone stock; avoidance of further limb shortening; increased torsional stability and increased surface area for bony union. This resulted in a patient with a stable, plantigrade foot appropriate for footwear...
March 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28124176/charcot-spinal-arthropathy-in-patients-with-congenital-insensitivity-to-pain-a-report-of-two-cases-and-review-of-the-literature
#7
REVIEW
Michael D Staudt, Christopher S Bailey, Fawaz Siddiqi
Charcot spine, or neuropathic spinal arthropathy, involves the progressive destruction of the spinal joint due to the lack of normal protective sensations and proprioception. A rare cause of Charcot spine is congenital insensitivity to pain, which is an absent or abnormal response to painful stimuli. There are few case reports describing this condition, and long-term follow-up data are limited. The presentation and treatment of two patients with Charcot spine secondary to congenital insensitivity to pain are described...
January 26, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28076385/the-effect-of-a-novel-c-820c-t-arg274trp-mutation-in-the-mitofusin-2-gene-on-fibroblast-metabolism-and-clinical-manifestation-in-a-patient
#8
Małgorzata Beręsewicz, Anna Boratyńska-Jasińska, Łukasz Charzewski, Maria Kawalec, Dagmara Kabzińska, Andrzej Kochański, Krystiana A Krzyśko, Barbara Zabłocka
Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2). Mitofusin 2 is a GTPase protein present in the outer mitochondrial membrane and responsible for regulation of mitochondrial network architecture via the fusion of mitochondria. As that fusion process is known to be strongly dependent on the GTPase activity of mitofusin 2, it is postulated that the MFN2 mutation within the GTPase domain may lead to impaired GTPase activity, and in turn to mitochondrial dysfunction...
2017: PloS One
https://www.readbyqxmd.com/read/27909638/four-rod-instrumentation-for-treatment-of-charcot-spinal-arthropathy-causing-autonomic-dysreflexia-case-report-and-literature-review
#9
Stephanie Zyck, Gentian Toshkezi, John Pizzuti, Satya Marawar
Late complications of spinal cord injury can include Charcot arthropathy, in which spinal instability occurs as a result of repetitive trauma in the insensate spine. In rare cases, this can present as autonomic dysreflexia. We present the case of a 60-year-old man with longstanding C6 quadriplegia who presented with six months of hypertension, diaphoresis and dizziness. After an extensive workup, the patient's symptoms were attributed to autonomic dysreflexia in the setting of spinal instability from Charcot spinal arthropathy...
October 27, 2016: Curēus
https://www.readbyqxmd.com/read/27907123/mice-hemizygous-for-a-pathogenic-mitofusin-2-allele-exhibit-hind-limb-foot-gait-deficits-and-phenotypic-perturbations-in-nerve-and-muscle
#10
Peter Bannerman, Travis Burns, Jie Xu, Laird Miers, David Pleasure
Charcot-Marie-Tooth disease type 2A (CMT2A), the most common axonal form of hereditary sensory motor neuropathy, is caused by mutations of mitofusin-2 (MFN2). Mitofusin-2 is a GTPase required for fusion of mitochondrial outer membranes, repair of damaged mitochondria, efficient mitochondrial energetics, regulation of mitochondrial-endoplasmic reticulum calcium coupling and axonal transport of mitochondria. We knocked T105M MFN2 preceded by a loxP-flanked STOP sequence into the mouse Rosa26 locus to permit cell type-specific expression of this pathogenic allele...
2016: PloS One
https://www.readbyqxmd.com/read/27888790/complication-assessment-and-prevention-strategies-using-midfoot-fusion-bolt-for-medial-column-stabilization-in-charcot-s-osteoarthropathy
#11
Alexander T Mehlhorn, Markus Walther, Niklas Iblher, Norbert P Südkamp, Hagen Schmal
In Charcot's osteoarthropathy stabilization of the medial column of the foot was introduced in order to establish a stable foot and reduce the risk for amputation. This study was performed to analyze postoperative complications, define risk factors for those and develop strategies for prevention. Since bolt dislocation takes place frequently, it was aimed to predict an appropriate time point for bolt removal under the condition that osseous healing has occurred. Fourteen consecutive patients with neuroosteoarthropathy of the foot and arch collapse were treated with open reduction and stabilization using midfoot fusion bolt and lateral lag screws...
December 2016: Foot
https://www.readbyqxmd.com/read/27879341/dynamin-functions-and-ligands-classical-mechanisms-behind
#12
REVIEW
Mahaveer Singh, Hemant R Jadhav, Tanya Bhatt
Dynamin is a GTPase that plays a vital role in clathrin-dependent endocytosis and other vesicular trafficking processes by acting as a pair of molecular scissors for newly formed vesicles originating from the plasma membrane. Dynamins and related proteins are important components for the cleavage of clathrin-coated vesicles, phagosomes, and mitochondria. These proteins help in organelle division, viral resistance, and mitochondrial fusion/fission. Dysfunction and mutations in dynamin have been implicated in the pathophysiology of various disorders, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Charcot-Marie-Tooth disease, heart failure, schizophrenia, epilepsy, cancer, dominant optic atrophy, osteoporosis, and Down's syndrome...
February 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/27871408/the-biology-of-bone-and-ligament-healing
#13
REVIEW
Jessica A Cottrell, Jessica Cardenas Turner, Treena Livingston Arinzeh, J Patrick O'Connor
This review describes the normal healing process for bone, ligaments, and tendons, including primary and secondary healing as well as bone-to-bone fusion. It depicts the important mediators and cell types involved in the inflammatory, reparative, and remodeling stages of each healing process. It also describes the main challenges for clinicians when trying to repair bone, ligaments, and tendons with a specific emphasis on Charcot neuropathy, fifth metatarsal fractures, arthrodesis, and tendon sheath and adhesions...
December 2016: Foot and Ankle Clinics
https://www.readbyqxmd.com/read/27807290/examining-the-potential-use-of-a-novel-radiographic-scoring-system-for-determining-surgical-intervention-in-diabetic-charcot-arthropathy
#14
Rahul Bijlani, Laurie M Lomasney, Michael Pinzur, Katherine Dux
Introduction Although Eichenholtz and the Schon systems are commonly used to evaluate foot Charcot arthropathy on radiographs, a novel system with expanded characterization may have added benefit. Methods Patients with Charcot arthropathy and foot radiographs were grouped in nonsurgical group 1 (imaging sets at minimum 2-year interval) and surgical group 2 (imaging preceding fusion and/or amputation). Radiographs were scored with Eichenholtz and Schon systems, and a novel scoring system (summation of 0-3 rank for bone density, distention/swelling, debris, disorganization, and dislocation/subluxation)...
November 1, 2016: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/27775718/correcting-mitochondrial-fusion-by-manipulating-mitofusin-conformations
#15
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 that exchange contents and undergo remodelling during cyclic fusion and fission. Genetic mutations in MFN2 (the gene encoding mitofusin 2) interrupt mitochondrial fusion and cause the untreatable neurodegenerative condition Charcot-Marie-Tooth disease type 2A (CMT2A). It has not yet been possible to directly modulate mitochondrial fusion, in part because the structural basis of mitofusin function is not completely understood. Here we show that mitofusins adopt either a fusion-constrained or a fusion-permissive molecular conformation, directed by specific intramolecular binding interactions, and demonstrate that mitofusin-dependent mitochondrial fusion can be regulated in mouse cells by targeting these conformational transitions...
December 1, 2016: Nature
https://www.readbyqxmd.com/read/27706887/increased-mitochondrial-fusion-in-a-autosomal-recessive-cmt2a-family-with-mitochondrial-gtpase-mitofusin-2-mutations
#16
Philippe Codron, Arnaud Chevrollier, Mariame S 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 the 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...
December 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27698177/intramedullary-nailing-and-external-ring-fixation-for-tibiotalocalcaneal-arthrodesis-in-charcot-arthropathy
#17
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...
February 2017: Foot & Ankle International
https://www.readbyqxmd.com/read/27627777/-charcot-arthropathy-and-diabetic-foot
#18
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
https://www.readbyqxmd.com/read/27542719/tibiotalocalcaneal-arthrodesis-with-headless-compression-screws
#19
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...
August 19, 2016: Journal of Orthopaedic Surgery and Research
https://www.readbyqxmd.com/read/27474457/posttraumatic-charcot-neuropathic-spinal-arthropathy-at-the-cervicothoracic-junction
#20
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
keyword
keyword
39132
1
2
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"