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https://www.readbyqxmd.com/read/27913209/abl2-kinase-phosphorylates-bi-organellar-regulator-mnrr1-in-mitochondria-stimulating-respiration
#1
Siddhesh Aras, Hassan Arrabi, Neeraja Purandare, Maik Hüttemann, John Kamholz, Stephan Züchner, Lawrence I Grossman
We previously showed that MNRR1 (Mitochondrial Nuclear Retrograde Regulator 1, also CHCHD2) functions in two subcellular compartments, displaying a different function in each. In the mitochondria it is a stress regulator of respiration that binds to cytochrome c oxidase (COX) whereas in the nucleus it is a transactivator of COX4I2 and other hypoxia-stimulated genes. We now show that binding of MNRR1 to COX is promoted by phosphorylation at tyrosine-99 and that this interaction stimulates respiration. We show that phosphorylation of MNRR1 takes place in mitochondria and is mediated by Abl2 kinase (ARG)...
November 29, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27909638/four-rod-instrumentation-for-treatment-of-charcot-spinal-arthropathy-causing-autonomic-dysreflexia-case-report-and-literature-review
#2
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/27908631/confirmation-of-the-gnb4-gene-as-causal-for-charcot-marie-tooth-disease-by-a-novel-de-novo-mutation-in-a-czech-patient
#3
Laššuthová Petra, Šafka Brožková Dana, Neupauerová Jana, Krůtová Marcela, Mazanec Radim, Seeman Pavel
The association of GNB4 with Charcot-Marie-Tooth (CMT) has recently been described in a publication by Soong et al. (Soong, et al., 2013). Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). The patient, now 41 years old, is a sporadic case in the family. At the age of 35 he presented with severe disability (CMT neuropathy score 29), profound muscle atrophies, pes cavus and scoliosis. Previously, the patient was tested for PMP22 duplications/deletions and later also with 64 CMT gene panel, with no causal variant found...
September 22, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27908492/fragility-fractures-of-the-ankle-in-the-elderly-open-reduction-and-internal-fixation-versus-tibio-talo-calcaneal-nailing-short-term-results-of-a-prospective-randomized-controlled-study
#4
D Georgiannos, V Lampridis, I Bisbinas
INTRODUCTION: The management of ankle fractures in the elderly remains unpredictable, secondary to their various co-morbidities. Although tibiotalocalcaneal (TTC) nailing has been an effective option for ankle arthrodesis due to ankle arthritis or Charcot arthropathy there are few reports regarding the use of TTC nail for the treatment of ankle fractures. PURPOSE: Aim of this study was to compare the results of ORIF versus TTC nailing for the treatment of unstable ankle fractures in the elderly...
November 17, 2016: Injury
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
#5
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/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#6
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27888790/complication-assessment-and-prevention-strategies-using-midfoot-fusion-bolt-for-medial-column-stabilization-in-charcot-s-osteoarthropathy
#7
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...
November 4, 2016: Foot
https://www.readbyqxmd.com/read/27884603/cranial-nerve-involvement-in-charcot-marie-tooth-disease
#8
Nirav Das, Savannah Kandalaft, Xiao Wu, Ajay Malhotra
BACKGROUND: Charcot-Marie-Tooth Disease (CMT) is a rare disorder with less than 200,000 cases reported in the US every year, making diagnosis challenging. MR and CT imaging has become more common in the evaluation of CMT to identify areas of disease involvement. CASE REPORT: A 27-year-old female from Guatemala with a past history of polio initially presented to the emergency room for necrotizing pneumonia. MRI images demonstrated smoothly enlarged, mildly enhancing trigeminal nerves...
November 21, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27882734/novel-mutations-in-sh3tc2-in-a-young-japanese-girl-with-charcot-marie-tooth-disease-type-4c
#9
Kazushi Ichikawa, Keita Numasawa, Saoko Takeshita, Akihiro Hashiguchi, Hiroshi Takashima
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27879341/title-dynamin-functions-and-ligands-classical-mechanism-behind
#10
Mahaveer Singh, Hemant Jadhav, Tanya B
Dynamin is a GTPase, which plays a vital role in clathrin dependent endocytosis and other vesicular trafficking processes. Dynamin acts as scissor with debatable mechanism for newly formed vesicles originating from plasma membrane. Dynamin related proteins are important components in scission of various organelles such as clathrin coated vesicles, phagosomes and mitochondria, etc. helping in organelle division, viral resistance and mitochondrial fusion/division. Dysfunction and mutations in dynamin have been implicated in various disorders, where endocytic trafficking is involved, such as Alzheimer's, Parkinson's, Huntington's, Charcot-Marie Tooth disease, Heart failure, Schizophrenia, Epilepsy, Cancer, Optic atrophy, Down syndrome, Osteoporosis etc...
November 22, 2016: Molecular Pharmacology
https://www.readbyqxmd.com/read/27871408/the-biology-of-bone-and-ligament-healing
#11
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/27869072/-tailored-orthotic-shoes-in-charcot-marie-tooth-disease
#12
Patrick Sautreuil, Michèle Mane, Besma Missaoui, Samy Bendaya, Philippe Thoumie
No abstract text is available yet for this article.
November 2016: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/27866730/hereditary-neuropathies-an-update
#13
REVIEW
T Stojkovic
Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability...
November 17, 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27865320/the-diabetic-charcot-foot-and-ankle-a-multidisciplinary-team-approach
#14
EDITORIAL
Thomas Zgonis
No abstract text is available yet for this article.
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865319/circular-external-fixation-as-a-primary-or-adjunctive-therapy-for-the-podoplastic-approach-of-the-diabetic-charcot-foot
#15
REVIEW
Daniel J Short, Thomas Zgonis
Numerous techniques have been described for surgical management of the diabetic Charcot foot. External fixation has become a main surgical tool for the reconstructive foot and ankle surgeon when dealing with the ulcerated diabetic Charcot foot. In the presence of an open wound and/or osteomyelitis, staged reconstruction with circular external fixation becomes ideal for salvage of the diabetic lower extremity. Also, circular external fixation can provide simultaneous compression and stabilization, correct the underlying osseous or soft tissue deformities, and surgically offload the diabetic Charcot foot...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865318/medical-imaging-in-differentiating-the-diabetic-charcot-foot-from-osteomyelitis
#16
REVIEW
Daniel J Short, Thomas Zgonis
Diabetic Charcot neuroarthropathy (DCN) poses a great challenge to diagnose in the early stages and when plain radiographs do not depict any initial signs of osseous fragmentation or dislocation in a setting of a high clinical index of suspicion. Medical imaging, including magnetic resonance imaging, computed tomography, and advanced bone scintigraphy, has its own unique clinical indications when treating the DCN with or without concomitant osteomyelitis. This article reviews different clinical case scenarios for choosing the most accurate medical imaging in differentiating DCN from osteomyelitis...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865317/revisional-surgery-of-the-diabetic-charcot-foot-and-ankle
#17
REVIEW
Patrick R Burns, Spencer J Monaco
Charcot neuroarthropathy (CN) is a difficult problem for the foot and ankle surgeon. If surgery is required, little is known or available regarding the best methods and timing. When the initial attempt of reconstruction fails, revision of CN is even more demanding. One must take in to account all aspects, including nutrition, vascular status, infection control, short- and long-term blood glucose management, as well as other factors requiring laboratory monitoring and consult services. Once optimized, the biomechanics of the deformity can be addressed and decisions can be made on fixation devices...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865316/soft-tissue-reconstruction-pyramid-for-the-diabetic-charcot-foot
#18
REVIEW
Claire M Capobianco, Thomas Zgonis
Foot and ankle ulcerations in patients with diabetic Charcot neuroarthropathy (DCN) occur frequently and can be challenging to address surgically when conservative care fails. Patients with acute or chronic diabetic foot ulcers (DFU) are at continued risk for development of osteomyelitis, septic arthritis, gas gangrene, and potential lower extremity amputation. Concurrent vasculopathy and peripheral neuropathy as well as uncontrolled medical comorbidities complicate the treatment approach. In addition, pathomechanical forces left untreated may contribute to DFU recurrence in this patient population...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865315/surgical-treatment-options-for-the-diabetic-charcot-hindfoot-and-ankle-deformity
#19
REVIEW
Tahir Ögüt, Necip Selcuk Yontar
Charcot neuroarthropathy is associated with progressive, noninfectious, osteolysis-induced bone and joint destruction. When the ankle and/or hindfoot is affected by the destruction process, management is further complicated with collapse and destruction of the talar body, which increases instability around the ankle. In this patient population, arthrodesis is the most commonly used surgical procedure. Internal fixation, external fixation, or a combination of both can be used for the treatment. Decision making between them should be individualized according to the patient characteristics...
January 2017: Clinics in Podiatric Medicine and Surgery
https://www.readbyqxmd.com/read/27865314/surgical-treatment-options-for-the-diabetic-charcot-midfoot-deformity
#20
REVIEW
Yousef Alrashidi, Thomas Hügle, Martin Wiewiorski, Mario Herrera-Perez, Victor Valderrabano
Management of diabetic Charcot midfoot deformity is one of the most demanding aspects of foot and ankle surgery. Its treatment should aim at reducing the rate of complications, including foot and ankle amputations or limb loss. Attempting reconstruction at Eichenholtz stages I and II carries the risk of infection and loss of fixation. It is advisable to limit surgical reconstruction to Eichenholtz stage III in the absence of any evidence of infection or vascular insufficiency. Achilles lengthening or gastrocnemius-soleus release is an essential initial step in surgery...
January 2017: Clinics in Podiatric Medicine and Surgery
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