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https://www.readbyqxmd.com/read/28224639/rigid-spine-syndrome-associated-with-sensory-motor-axonal-neuropathy-resembling-charcot-marie-tooth-disease-is-characteristic-of-bag3-gene-mutations-even-without-cardiac-involvement
#1
Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, Tanya Stojkovic
INTRODUCTION: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT)...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28222170/biomechanical-investigation-of-two-plating-systems-for-medial-column-fusion-in-foot
#2
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/28220846/cmt-linked-loss-of-function-mutations-in-gdap1-impair-store-operated-ca-2-entry-stimulated-respiration
#3
Paloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, Carlos B Rueda, Eduardo Calpena, Araceli Del Arco, Francesc Palau, Jorgina Satrústegui
GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca(2+) levels along with a defect on store-operated calcium entry (SOCE) related to a misallocation of mitochondria to subplasmalemmal sites. The defect on SOCE is mimicked by MCU silencing or mitochondrial depolarization, which prevent mitochondrial calcium uptake. Ca(2+) release from de ER and Ca(2+) inflow through SOCE in neuroblastoma cells result in a Ca(2+)-dependent upregulation of respiration which is blunted in GDAP1 silenced cells...
February 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28215760/two-novel-cases-of-compound-heterozygous-mutations-in-mitofusin2-finding-out-the-inheritance
#4
Alessandro Geroldi, Patrizia Lastella, Margherita Patruno, Fabio Gotta, Nicoletta Resta, Grazia Devigili, Carlo Sabbà, Rossella Gulli, Merit Lamp, Paola Origone, Paola Mandich, Emilia Bellone
MFN2 is the major gene involved in the axonal form of Charcot-Marie-Tooth disease. It usually has an autosomal dominant pattern of inheritance, but a few cases of homozygous or compound heterozygous mutations have been described. These patients usually present an earlier onset, more severe phenotype and their inheritance pattern can span from autosomal recessive to semidominant. Here we report two unrelated patients carrying two compound heterozygous MFN2 mutations. Both present a pure axonal neuropathy without any additional features...
January 17, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214652/unilateral-oculomotor-palsy-in-charcot-marie-tooth-disease-1a-cmt-1a
#5
A Posa, A Emmer, M E Kornhuber
BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 1A is the most common form of CMT 1 and one of the autosomal dominant demyelinating hereditary motor and sensory neuropathies (HMSN). Cranial nerves may be frequently subclinically affected in CMT disease. However manifest clinical signs of cranial nerve involvement are rare. METHODS: This case comprise neurological, ophthalmological, internal medicine and ear-nose-throat investigation, motor and sensory nerve conduction velocity, auditory evoked potentials and orbicularis-oculi reflex measurements, lumbar puncture and blood examination, inclusive molecular genetic testing, as well as electrocardiogram and cranial imaging such as computer tomography and magnetic resonance imaging RESULTS: The present case shows a Charcot-Marie-Tooth (CMT) 1A patient with complete unilateral oculomotor palsy in combination with predominant ipsilateral subclinical trigeminal demyelination...
February 13, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28213923/diagnostic-accuracy-of-charcot-s-triad-a-systematic-review
#6
REVIEW
Steva Rumsey, Joel Winders, Andrew D MacCormick
BACKGROUND: Charcot's triad is a well-established diagnostic tool for acute cholangitis (AC). It has been recognized as an inaccurate test in clinical practice; however, its exact sensitivity and specificity remain unclear. This knowledge is key to informing the value of its continued clinical application. The objectives of this study are to calculate an estimate of the sensitivity and specificity of Charcot's triad based on published research and consider its applicability to clinical practice and medical education...
February 17, 2017: ANZ Journal of Surgery
https://www.readbyqxmd.com/read/28211240/phenotypic-spectrum-of-charcot-marie-tooth-disease-due-to-litaf-simple-mutations-a-study-of-18-patients
#7
R Guimarães-Costa, R Iancu Ferfoglia, S Leonard-Louis, F Ziegler, L Magy, E Fournier, O Dubourg, P Bouche, T Maisonobe, A Lacour, A Moerman, P Latour, T Stojkovic
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) 1C due to mutations in LITAF/SIMPLE is a rare subtype amongst the autosomal dominant demyelinating forms of CMT. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT1C patients and compare them to 20 patients with PMP22 mutations: 10 CMT1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP). METHODS: Charcot-Marie-Tooth 1C patients were followed-up in referral centres for neuromuscular diseases or were identified by familial survey...
March 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28202949/clinical-diversity-caused-by-novel-ighmbp2-variants
#8
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
Immunoglobulin helicase μ-binding protein 2 (IGHMBP2) gene is responsible for Charcot-Marie-Tooth disease (CMT) type 2S and spinal muscular atrophy with respiratory distress type 1 (SMARD1). From June 2014 to December 2015, we collected 408 cases, who referred to our genetic laboratory for genetic analysis, suspected with CMT disease or other inherited peripheral neuropathies (IPNs) on the basis of clinical manifestations and electrophysiological studies. Mutation screening was performed using Ion AmpliSeq Custom Panels, which comprise 72 disease-causing or candidate genes of IPNs...
February 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28192073/recurrent-and-novel-mutations-in-the-ntrk1-gene-lead-to-rare-congenital-insensitivity-to-pain-with-anhidrosis-in-two-chinese-patients
#9
Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Lu-Jiao Li, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Peng Gao, Mei Li
BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive autonomic and sensory neuropathy. CIPA is associated with various mutations in NTRK1. CASES: Two unrelated Chinese patients presented separately with symptoms of insensitivity to pain, inability to sweat, repeated painless fractures, and Charcot arthropathy were recruited. Both of them were clinically diagnosed with CIPA. Increased serum bone resorption marker (β-CTX) levels and decreased BMD were observed in both patients...
February 10, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28190646/vocal-cord-paralysis-in-charcot-marie-tooth-type-4b1-disease-associated-with-a-novel-mutation-in-the-myotubularin-related-protein-2-gene-a-case-report-and-review-of-the-literature
#10
Alberto Andrea Zambon, Maria Grazia Natali Sora, Giovanna Cantarella, Federica Cerri, Angelo Quattrini, Giancarlo Comi, Stefano Carlo Previtali, Alessandra Bolino
Charcot-Marie-Tooth type 4B1 (CMT4B1) is an autosomal recessive motor and sensory demyelinating neuropathy characterized by the association of early-onset neurological symptoms and typical histological findings. The natural history and the clinical variability of the disease are still poorly known, thus further clarification of the different phenotypes is needed. We report on the case of a Pakistani girl born to consanguineous parents harboring a novel mutation in the MTMR2 gene. When aged 18 months, reduced limb tone, muscle wasting associated with proximal and distal weakness prevalent in lower limbs, absence of tendon reflexes, hoarseness and inspiratory stridor were detected...
January 16, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28186670/rab7-may-be-a-novel-therapeutic-target-for-neurologic-diseases-as-a-key-regulator-in-autophagy
#11
REVIEW
Haixia Wen, Lixuan Zhan, Siyuan Chen, Long Long, En Xu
Macroautophagy is an evolutionally conserved membrane trafficking pathway that delivers intracellular materials to lysosomes for degradation and recycling. Rab7, as a member of the Rab GTPase superfamily, has a unique role in the regulation of macroautophagy, especially in modulating autophagy flux. The functional states of Rab7 generally switch between GTP-bound and GDP-bound states under the control of guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs). Activated GTP-Rab7 is capable of regulating autophagosome formation, autophagosome transportation along microtubules, endosome and autophagosome maturation, as well as lysosome biogenesis via interacting with its effector molecules...
February 10, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/28186137/glcnac6st-1-regulates-sulfation-of-n-glycans-and-myelination-in-the-peripheral-nervous-system
#12
Takeshi Yoshimura, Akiko Hayashi, Mai Handa-Narumi, Hirokazu Yagi, Nobuhiko Ohno, Takako Koike, Yoshihide Yamaguchi, Kenji Uchimura, Kenji Kadomatsu, Jan Sedzik, Kunio Kitamura, Koichi Kato, Bruce D Trapp, Hiroko Baba, Kazuhiro Ikenaka
Highly specialized glial cells wrap axons with a multilayered myelin membrane in vertebrates. Myelin serves essential roles in the functioning of the nervous system. Axonal degeneration is the major cause of permanent neurological disability in primary myelin diseases. Many glycoproteins have been identified in myelin, and a lack of one myelin glycoprotein results in abnormal myelin structures in many cases. However, the roles of glycans on myelin glycoproteins remain poorly understood. Here, we report that sulfated N-glycans are involved in peripheral nervous system (PNS) myelination...
February 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28165391/charcot-marie-tooth-2b-peripheral-sensory-neuropathy-how-rab7-mutations-impact-ngf-signaling
#13
REVIEW
Harry Liu, Chengbiao Wu
Charcot-Marie-Tooth 2B peripheral sensory neuropathy (CMT2B) is a debilitating autosomal dominant hereditary sensory neuropathy. Patients with this disease lose pain sensation and frequently need amputation. Axonal dysfunction and degeneration of peripheral sensory neurons is a major clinical manifestation of CMT2B. However, the cellular and molecular pathogenic mechanisms remain undefined. CMT2B is caused by missense point mutations (L129F, K157N, N161T/I, V162M) in Rab7 GTPase. Strong evidence suggests that the Rab7 mutation(s) enhances the cellular levels of activated Rab7 proteins, thus resulting in increased lysosomal activity and autophagy...
February 4, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28164329/charcot-marie-tooth-disease-type-1c-clinical-and-electrophysiological-findings-for-the-c-334g-a-p-gly112ser-litaf-simple-mutation
#14
Nivedita U Jerath, Michael E Shy
INTRODUCTION: Charcot-Marie-Tooth Disease type 1 C (CMT1C) is a rare, dominantly inherited neuropathy caused by mutations in the lipopolysaccharide-induced tumor necrosis factor (LITAF) or small integral membrane protein of the lysosome/late endosome (SIMPLE) gene. METHODS: We present a case series comprised of 10 patients in whom CMT1C is caused by a Gly112Ser substitution in the encoded protein. We focus on clinical presentation, electrodiagnostic analyses, and our findings in the context of previously described cases...
February 6, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28159052/complex-ankle-arthrodesis-with-step-cut-osteotomy-in-charcot-arthropathy-with-bone-loss
#15
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/28148924/mutations-in-methionyl-trna-synthetase-gene-in-a-chinese-family-with-interstitial-lung-and-liver-disease-postnatal-growth-failure-and-anemia
#16
Yu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen, Wenjuan Qiu
Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA. Heterozygous MARS mutations have been reported to cause Charcot-Marie-Tooth disease, axonal, type 2U (CMT2U). Homozygous or compound heterozygous mutations in MARS gene would cause interstitial lung and liver disease (ILLD), a severe disease onset in infancy or early childhood. Here we report a Chinese ILLD family with two affected boys diagnosed by exome sequencing. They carry novel compound heterozygous MARS mutations (p.Asp145Asn and p...
February 2, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28145445/peripheral-neuropathies-atypical-charcot-marie-tooth-disease-linked-to-sphingosine-1-phosphate-lyase-deficiency
#17
Heather Wood
No abstract text is available yet for this article.
February 1, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28132977/mitochondrial-trifunctional-protein-deficiency-an-adult-patient-with-similar-progress-to-charcot-marie-tooth-disease
#18
Yuki Yamamoto, Naoko Matsui, Yu Hiramatsu, Yoshimichi Miyazaki, Hiroyuki Nodera, Yuishin Izumi, Hiroshi Takashima, Ryuji Kaji
A 45-year-old man presented to us due to slowly progressive muscle weakness and sensory disturbances in his lower limbs since his 40's. He reported multiple episodes of exercise-induced severe muscle fatigue and brown urine in his childhood, which disappeared by age 20. A nerve conduction study showed peripheral axonal neuropathy and then Charcot-Marie-Tooth disease (CMT) was considered as the most likely diagnosis; however, exome sequencing failed to identify a mutation in the known genes of CMTs. Since age 55, he recurrently developed severe rhabdomyolysis that required hospitalization...
January 28, 2017: Rinshō Shinkeigaku, Clinical Neurology
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
#19
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/28120507/effect-of-systemic-insulin-treatment-on-diabetic-wound-healing
#20
Nasibeh Vatankhah, Younes Jahangiri, Gregory J Landry, Gregory L Moneta, Amir F Azarbal
This study investigates if different diabetic treatment regimens affect diabetic foot ulcer healing. From January 2013 to December 2014, 107 diabetic foot ulcers in 85 patients were followed until wound healing, amputation or development of a nonhealing ulcer at the last follow-up visit. Demographic data, diabetic treatment regimens, presence of peripheral vascular disease, wound characteristics, and outcome were collected. Nonhealing wound was defined as major or minor amputation or those who did not have complete healing until the last observation...
January 24, 2017: Wound Repair and Regeneration
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