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https://www.readbyqxmd.com/read/29898954/mitofusin-gain-and-loss-of-function-drive-pathogenesis-in-drosophila-models-of-cmt2a-neuropathy
#1
Najla El Fissi, Manuel Rojo, Aїcha Aouane, Esra Karatas, Gabriela Poliacikova, Claudine David, Julien Royet, Thomas Rival
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro-fusion factor Mitofusin 2 (MFN2). To address the consequences of these mutations on mitofusin activity and neuronal function, we generate Drosophila models expressing in neurons the two most frequent substitutions (R94Q and R364W, the latter never studied before) and two others localizing to similar domains (T105M and L76P). All alleles trigger locomotor deficits associated with mitochondrial depletion at neuromuscular junctions, decreased oxidative metabolism and increased mtDNA mutations, but they differently alter mitochondrial morphology and organization...
June 13, 2018: EMBO Reports
https://www.readbyqxmd.com/read/29674596/mfn2-agonists-reverse-mitochondrial-defects-in-preclinical-models-of-charcot-marie-tooth-disease-type-2a
#2
Agostinho G Rocha, Antonietta Franco, Andrzej M Krezel, Jeanne M Rumsey, Justin M Alberti, William C Knight, Nikolaos Biris, Emmanouil Zacharioudakis, James W Janetka, Robert H Baloh, Richard N Kitsis, Daria Mochly-Rosen, R Reid Townsend, Evripidis Gavathiotis, Gerald W Dorn
Mitofusins (MFNs) promote fusion-mediated mitochondrial content exchange and subcellular trafficking. Mutations in Mfn2 cause neurodegenerative Charcot-Marie-Tooth disease type 2A (CMT2A). We showed that MFN2 activity can be determined by Met376 and His380 interactions with Asp725 and Leu727 and controlled by PINK1 kinase-mediated phosphorylation of adjacent MFN2 Ser378 Small-molecule mimics of the peptide-peptide interface of MFN2 disrupted this interaction, allosterically activating MFN2 and promoting mitochondrial fusion...
April 20, 2018: Science
https://www.readbyqxmd.com/read/29652238/challenge-of-handling-a-charcot-spinal-arthropathy-with-a-novel-hybrid-fibular-autograft-and-expandable-cage
#3
Nissim Ohana, Daniel Benharroch, Dimitri Sheinis
A 26-year-old man, who was paraplegic for 6 years due to a motor vehicle accident, presented to the authors' clinic following his incapacity to withstand a sitting posture, the frequent sensation of "clicks" in his back, and a complaint of back pain while in his wheelchair. On imaging, his dorsal spine showed a complete arthrodesis of the primarily fused vertebrae. However, distal to this segment, a Charcot spinal arthropathy with subluxation of T12-L1 was evident. Repair of this complex, uncommon, late complication of his paraplegia by the frequently used fusion techniques was shown to be inappropriate...
April 13, 2018: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/29483649/structural-basis-for-gtp-hydrolysis-and-conformational-change-of-mfn1-in-mediating-membrane-fusion
#4
Liming Yan, Yuanbo Qi, Xiaofang Huang, Caiting Yu, Lan Lan, Xiangyang Guo, Zihe Rao, Junjie Hu, Zhiyong Lou
Fusion of the outer mitochondrial membrane is mediated by the dynamin-like GTPase mitofusin (MFN). Here, we determined the structure of the minimal GTPase domain (MGD) of human MFN1 in complex with GDP-BeF3 - . The MGD folds into a canonical GTPase fold with an associating four-helix bundle, HB1, and forms a dimer. A potassium ion in the catalytic core engages GDP and BeF3 - (GDP-BeF3 - ). Enzymatic analysis has confirmed that efficient GTP hydrolysis by MFN1 requires potassium. Compared to previously reported MGD structures, the HB1 structure undergoes a major conformational change relative to the GTPase domains, as they move from pointing in opposite directions to point in the same direction, suggesting that a swing of the four-helix bundle can pull tethered membranes closer to achieve fusion...
March 2018: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/29437061/mid-term-follow-up-of-patients-with-hindfoot-arthrodesis-with-retrograde-compression-intramedullary-nail-in-charcot-neuroarthropathy-of-the-hindfoot
#5
M Chraim, S Krenn, H M Alrabai, H-J Trnka, P Bock
AIMS: Hindfoot arthrodesis with retrograde intramedullary nailing has been described as a surgical strategy to reconstruct deformities of the ankle and hindfoot in patients with Charcot arthropathy. This study presents case series of Charcot arthropathy patients treated with two different retrograde intramedullary straight compression nails in order to reconstruct the hindfoot and assess the results over a mid-term follow-up. PATIENTS AND METHODS: We performed a retrospective analysis of 18 consecutive patients and 19 operated feet with Charcot arthropathy who underwent a hindfoot arthrodesis using a retrograde intramedullary compression nail...
February 2018: Bone & Joint Journal
https://www.readbyqxmd.com/read/29417158/operative-treatment-algorithm-for-foot-deformities-in-charcot-marie-tooth-disease
#6
REVIEW
J W K Louwerens
The present article presents a short summary concerning the pathomechanisms and clinical presentation of foot deformities in Charcot-Marie-Tooth syndrome. Furthermore, a classification system is introduced and based on a recently performed review of the literature an operative treatment algorithm is provided. The operative technique of the following surgical procedures is described in more detail: 1. dorsiflexion osteotomy at the base of the 1st metatarsus, 2. dorsiflexion osteotomy at the base of a lesser metatarsal bone, 3...
April 2018: Operative Orthopädie und Traumatologie
https://www.readbyqxmd.com/read/29409267/uncontrolled-diabetes-as-a-potential-risk-factor-in-tibiotalocalcaneal-fusion-using-a-retrograde-intramedullary-nail
#7
Moses Lee, Woo Jin Choi, Seung Hwan Han, Jinyoung Jang, Jin Woo Lee
BACKGROUND: Tibiotalocalcaneal (TTC) fusion using a retrograde intramedullary (IM) nail is an effective salvage option for terminal-stage hindfoot problems. However, as many patients who receive TTC fusion bear unfavorable medical comorbidities, the risk of nonunion, infection and other complications increases. This study was performed to identify the factors influencing outcomes after TTC fusion using a retrograde IM nail. METHODS: Between September 2008 and February 2012, 34 consecutive patients received TTC fusion using a retrograde IM nail for limb salvage...
July 22, 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29409253/functional-pedal-construct-achieved-by-combined-operative-treatment-in-peritalar-complex-charcot-arthropathy-a-prospective-study-of-38-feet
#8
Hani El-Mowafi, Ahmed El-Hawary, Yasser Kandil
BACKGROUND: Charcot arthropathy of the peritalar complex carries a high risk of amputation if not properly managed. Our aim is to assess the functional outcome of severe Charcot arthropathy of the peritalar complex following enblock resection of the ulcer, massive debridement and stabilizing all the elements of the peritalar complex. METHODS: We prospectively studied 38 feet in 35 patients with peritalar complex Charcot arthropathy. All Feet underwent intense debridement and fusion using a combination of (Ilizarov) external fixation, and (plate and locked nail) internal fixation...
March 6, 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29409204/correction-of-ankle-and-hind-foot-deformity-in-charcot-neuroarthropathy-using-a-retrograde-hind-foot-nail-the-kings-experience
#9
N Vasukutty, H Jawalkar, A Anugraha, R Chekuri, R Ahluwalia, V Kavarthapu
BACKGROUND: Corrective fusion for the unstable deformed hind foot and mid foot in Charcot Neuroarthropathy (CN) is quite challenging and is best done in tertiary centres under the supervision of multidisciplinary teams. METHODS: We present a follow up to our initial report with a series of 42 hind foot corrections in 40 patients from a tertiary level teaching hospital in the United Kingdom. The mean patient age was 59 (33-82). 17 patients had type1diabetes mellitus, 23 had type 2...
April 28, 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29227787/major-destructive-asymptomatic-lumbar-charcot-lesion-treated-with-three-column-resection-and-short-segment-reconstruction-case-report-treatment-strategy-and-review-of-literature
#10
Kestutis Valancius, Gaurav Garg, Madalina Duicu, Ebbe Stender Hansen, Cody Bunger
Charcot's spine is a long-term complication of spinal cord injury. The lesion is often localized at the caudal end of long fusion constructs and distal to the level of paraplegia. However, cases are rare and the literature relevant to the management of Charcot's arthropathy is limited. This paper reviews the clinical features, diagnosis, and surgical management of post-traumatic spinal neuroarthropathy in the current literature. We present a rare case of adjacent level Charcot's lesion of the lumbar spine in a paraplegic patient, primarily treated for traumatic spinal cord lesion 39 years before current surgery...
2017: SICOT-J
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#11
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29175717/tibio-calcaneal-fusion-by-retrograde-intramedullary-nailing-in-charcot-neuroarthropathy
#12
Khaled M Emara, Ramy Ahmed Diab, Mohamed Amr Hemida
INTRODUCTION: Charcot's neuroarthropathy of ankle leads to instability, destruction of the joint with significant morbidity that may require an amputation. Aim of surgical treatment is to achieve painless stable plantigrade foot through arthrodesis. Achieving surgical arthrodesis in Charcot's neuroarthropathy has a high failure rate. We assess the outcomes of retrograde intramedullary interlocked nailing in tibio-talar arthrodesis for Charcot's neuroarthropathy. MATERIALS AND METHODS: 42 diabetic patients with a mean age of 49 year underwent ankle tibio-talar arthrodesis using retrograde nailing for Charcot's neuroarthropathy...
March 2018: Foot
https://www.readbyqxmd.com/read/29160725/management-of-neurologic-deformity-of-the-ankle-and-foot-with-concurrent-osteomyelitis-with-the-ilizarov-method
#13
Nikolay Mikhailovich Kliushin, Anatoliy Sergeyevich Sudnitsyn, Koushik Narayan Subramanyam, Jefferson George
BACKGROUND: The combination of neurologic deformity of the ankle and foot with osteomyelitis is a therapeutic challenge. We investigated the role of Ilizarov with regard to eradication of infection, correction of deformities and improvement of patient function. METHODS: We retrospectively reviewed 77 patients (77 feet) with neurologic deformity of the ankle and foot with osteomyelitis treated sequentially in 3 stages by Ilizarov method. The 3 stages were (1) active debridement and Ilizarov stabilization, (2) further strengthening of Ilizarov fixator and active osteosynthesis consisting of strategies like arthrodesis, osteotomy distraction, bone transport, or combination thereof, (3) consolidation of fusion/regeneration achieved in second stage...
February 2018: Foot & Ankle International
https://www.readbyqxmd.com/read/29154697/rate-of-subtalar-joint-arthrodesis-after-retrograde-tibiotalocalcaneal-arthrodesis-with-intramedullary-nail-fixation-evaluation-of-the-rain-database
#14
Michael Dujela, Christopher F Hyer, Gregory C Berlet
BACKGROUND: Hindfoot arthritis or significant deformity involving the ankle and subtalar joint (STJ) is a disabling condition with few salvage options. Many surgeons note a decreased STJ fusion rate compared with ankle union when a retrograde nail construct is used. The purpose of this study was to report the STJ fusion rate of tibiotalocalcaneal (TTC) arthrodesis with retrograde nail. METHODS: A chart and radiographic review was performed. TTC fusions performed in patients with osteoarthritis, posttraumatic arthritis, or deformity correction with retrograde nail fixation were included...
November 1, 2017: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/29129314/tibiotalocalcaneal-arthrodesis-with-the-hindfoot-arthrodesis-nail-a-prospective-consecutive-series-from-a-single-institution
#15
Bing Howe Lee, Christopher Fang, Remesh Kunnasegaran, Gowreeson Thevendran
Tibiotalocalcaneal arthrodesis (TTCA) is a salvage procedure. We report a series of 20 patients who underwent TTCA using an intramedullary nail. Of the 20 patients, 7 (35%) had diabetes mellitus. The patient experiences and outcomes were analyzed. Their mean age was 61.1 (range 39 to 78) years. The minimum follow-up period was 13 (mean 28, range 13 to 49) months. Surgical indications included diabetic Charcot arthropathy in 7 (35%), hindfoot osteoarthritis in 10 (50%), and severe equinovarus deformity in 3 (15%)...
January 2018: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29035584/hybrid-fixation-for-ankle-fusion-in-diabetic-charcot-arthropathy
#16
Hani El-Mowafi, Mazen Abulsaad, Yasser Kandil, Ahmed El-Hawary, Samer Ali
BACKGROUND: Ankle fusion is difficult to achieve in the diabetic Charcot ankle Brodsky type 3a because of the poor quality of the bone and the inability to achieve a stable biomechanical construct. The aim of this study was to report the outcome of ankle fusion using a combination of an intramedullary nail and a circular external fixator in patients with diabetic Charcot arthropathy. METHODS: We prospectively studied 24 patients with diabetic Charcot arthropathy of the ankle who were treated by fusion of the tibiotalar joint using a combined retrograde intramedullary nail and Ilizarov external fixator...
January 2018: Foot & Ankle International
https://www.readbyqxmd.com/read/28933354/mitochondrial-dynamics-in-mitochondrial-diseases
#17
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
#18
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
#19
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
#20
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
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