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https://www.readbyqxmd.com/read/28077491/sphingosine-1-phosphate-lyase-deficiency-causes-charcot-marie-tooth-neuropathy
#1
Derek Atkinson, Jelena Nikodinovic Glumac, Bob Asselbergh, Biljana Ermanoska, David Blocquel, Regula Steiner, Alejandro Estrada-Cuzcano, Kristien Peeters, Tinne Ooms, Els De Vriendt, Xiang-Lei Yang, Thorsten Hornemann, Vedrana Milic Rasic, Albena Jordanova
OBJECTIVE: To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. METHODS: Detailed neurologic, electrophysiologic, and neuropathologic examinations of the patients were performed. Whole exome sequencing of both affected individuals was done. The effect of the identified sequence variations was investigated at cDNA and protein level in patient-derived lymphoblasts. The plasma sphingoid base profile was analyzed...
January 11, 2017: Neurology
https://www.readbyqxmd.com/read/28077174/mutant-hspb1-causes-loss-of-translational-repression-by-binding-to-pcbp1-an-rna-binding-protein-with-a-possible-role-in-neurodegenerative-disease
#2
Thomas Geuens, Vicky De Winter, Nicholas Rajan, Tilmann Achsel, Ligia Mateiu, Leonardo Almeida-Souza, Bob Asselbergh, Delphine Bouhy, Michaela Auer-Grumbach, Claudia Bagni, Vincent Timmerman
The small heat shock protein HSPB1 (Hsp27) is an ubiquitously expressed molecular chaperone able to regulate various cellular functions like actin dynamics, oxidative stress regulation and anti-apoptosis. So far disease causing mutations in HSPB1 have been associated with neurodegenerative diseases such as distal hereditary motor neuropathy, Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. Most mutations in HSPB1 target its highly conserved α-crystallin domain, while other mutations affect the C- or N-terminal regions or its promotor...
January 11, 2017: Acta Neuropathologica Communications
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
#3
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/28065847/a-drosophila-model-of-gdap1-function-reveals-the-involvement-of-insulin-signalling-in-the-mitochondria-dependent-neuromuscular-degeneration
#4
Víctor López Del Amo, Martina Palomino-Schätzlein, Marta Seco-Cervera, José Luis García-Giménez, Federico Vicente Pallardó, Antonio Pineda-Lucena, Máximo Ibo Galindo
Charcot-Marie-Tooth disease is a rare peripheral neuropathy for which there is no specific treatment. Some forms of Charcot-Marie-Tooth are due to mutations in the GDAP1 gene. A striking feature of mutations in GDAP1 is that they have a variable clinical manifestation, according to disease onset and progression, histology and mode of inheritance. Studies in cellular and animal models have revealed a role of GDAP1 in mitochondrial morphology and distribution, calcium homeostasis and oxidative stress. To get a better understanding of the disease mechanism we have generated models of over-expression and RNA interference of the Drosophila Gdap1 gene...
January 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28065684/ighmbp2-related-clinical-and-genetic-features-in-a-cohort-of-chinese-charcot-marie-tooth-disease-type-2-patients
#5
Lei Liu, Xiaobo Li, Zhengmao Hu, Xiao Mao, Xiaohong Zi, Kun Xia, Beisha Tang, Ruxu Zhang
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We detected IGHMBP2 mutations in a cohort of Chinese CMT2 patients using genes panel testing, polymerase chain reaction and Sanger sequencing. We found four families with autosomal recessive IGHMBP2 mutations, and the frequency of IGHMBP2 mutations is 6.5% in CMT2 without dominant inheritance...
November 18, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#6
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28054914/detailed-audiological-evaluation-of-a-patient-with-xeroderma-pigmentosum-with-neural-degeneration
#7
Danielle Mercer, Annette Hurley, Fern Tsien
BACKGROUND: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized by extreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleic acid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin cancers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mental deterioration, cortical thinning, and sensorineural hearing loss. PURPOSE: Herein, we describe the audiological and genetic findings in a patient with XP subtype D with neural degeneration and hearing loss...
January 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28051077/fig4-variants-in-central-european-patients-with-amyotrophic-lateral-sclerosis-a-whole-exome-and-targeted-sequencing-study
#8
Alma Osmanovic, Isolde Rangnau, Anne Kosfeld, Susanne Abdulla, Claas Janssen, Bernd Auber, Peter Raab, Matthias Preller, Susanne Petri, Ruthild G Weber
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of variants in the identified risk gene, FIG4, in a central European ALS cohort. Whole-exome sequencing (WES) and an overlapping data analysis strategy were performed in an ALS family with autosomal dominant inheritance and incomplete penetrance. Additionally, 200 central European ALS patients were analyzed using whole-exome or targeted sequencing...
January 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28038830/a-case-of-charcot-marie-tooth-cmt-disease-with-hypercholesterolaemia-and-statin-side-effects-a-case-report-and-literature-review
#9
Negar Mgahsoodi, Martin A Crook
No abstract text is available yet for this article.
December 27, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28035124/your-epoch-is-not-for-trying-it-s-for-living-and-for-dying
#10
Leonid P Churilov
The article is devoted to biographies of three Russian physicians of the Silver Age (a period in the History of Russian culture between 1890 and 1917). They made early, significant and internationally recognized contribution into medical science and became eponymous, although social disasters of the twentieth century caused deep impact on their subsequent lives and careers, so their role was shadowed from global medical community. The article analyzes biographies and academic achievements of A-F.K. Siewert (aka: Zivert, Ziwert, von Siewert) (1872-1922), known for first description of the hereditary dyskinesia of cilia (as a triad of: situs inversus of the viscera, abnormal frontal sinuses producing sinusitis and bronchiectasis); S...
December 2016: Psychiatria Danubina
https://www.readbyqxmd.com/read/28033054/staged-reconstruction-for-acute-charcot-s-subtalar-joint-dislocationa-case-report
#11
Spencer Monaco, Patrick Burns, Alissa Toth
Charcot's neuroarthropathy can have devastating consequences if left untreated or misdiagnosed. With progression of the disease from the acute to the chronic phase, substantial deformity and instability may result, leading to ulceration and a nonfunctional limb. The purpose of this case report is to present a staged reconstruction for active Charcot's neuroarthropathy involving the subtalar joint with complete dislocation that resulted in limb salvage and maintenance of limb function at 1-year follow-up. Although for many patients the mainstay of treatment for early Charcot's neuroarthropathy is conservative care with off-loading, early surgical correction that includes external fixation followed by definitive arthrodesis for select patients may be warranted...
November 2016: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28032003/a-rare-association-between-multiple-sclerosis-and-charcot-marie-tooth-type-1b
#12
Rosa Cortese, Stefano Zoccolella, Maria Muglia, Alessandra Patitucci, Antonio Scarafino, Damiano Paolicelli, Isabella Laura Simone
The association between multiple sclerosis (MS) and hereditary and sporadic demyelinating disorders of the peripheral nervous system is extremely rare. We herein report a case of Charcot-Marie-Tooth disease type 1B with p.Val102fs mutation in the MPZ gene that developed relapsing remitting MS.
December 2016: Brain and Behavior
https://www.readbyqxmd.com/read/28031292/protein-kinase-ck2-modulates-hsj1-function-through-phosphorylation-of-the-uim2-domain
#13
Daniele Ottaviani, Oriano Marin, Giorgio Arrigoni, Cinzia Franchin, Jordi Vilardell, Michele Sandre, Wenwen Li, David A Parfitt, Lorenzo A Pinna, Michael E Cheetham, Maria Ruzzene
HSJ1 (DNAJB2), a member of the DNAJ family of molecular chaperones, is a key player in neuronal proteostasis maintenance. It binds ubiquitylated proteins through its Ubiquitin Interacting Motifs (UIMs) and facilitates their delivery to the proteasome for degradation. Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy with parkinsonism and the later stages can resemble amyotrophic lateral sclerosis. HSJ1 overexpression can reduce aggregation of neurodegeneration-associated proteins in vitro and in vivo; however, the regulation of HSJ1 function is little understood...
December 28, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28031030/outcome-after-protected-full-weightbearing-treatment-in-an-orthopedic-device-in-diabetic-neuropathic-arthropathy-charcot-arthropathy-a-comparison-of-unilaterally-and-bilaterally-affected-patients
#14
Niklas Renner, Stephan Hermann Wirth, Georg Osterhoff, Thomas Böni, Martin Berli
BACKGROUND: Charcot neuropathic arthropathy (CN) is a chronic, progressive, destructive, non-infectious process that most frequently affects the bone architecture of the foot in patients with sensory neuropathy. We evaluated the outcome of protected weightbearing treatment of CN in unilaterally and bilaterally affected patients and secondarily compared outcomes in protected versus unprotected weightbearing treatment. METHODS: Patient records and radiographs from 2002 to 2012 were retrospectively analyzed...
December 29, 2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28030964/charcot-collapse
#15
Lisa Grant, Robert Yoho, Chandana Halaharvi, William Grant
: Charcot fracture pattern (FP) and Charcot dislocation pattern (DP) are 2 distinct collapse patterns identified in Charcot neuroarthropathy of the foot and ankle. These patterns are believed to demonstrate relative differences in central bone mineral density (BMD), which has been theoretically extrapolated to describe local BMD. To assess variation in local bone composition of FP and DP patients, 10 patients, 5 DP and 5 FP were recruited. The patient's age, body mass index (BMI), radiographs, central BMD, local BMD, sRANKL (soluble receptor activator nuclear factor kappa-beta ligand), sRAGE (soluble receptors of advanced glycated end-products), and osteocalcin were measured to determined bone metabolic status and density...
December 1, 2016: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/28029181/new-horizons-in-the-understanding-of-the-causes-and-management-of-diabetic-foot-disease-report-from-the-2017-diabetes-uk-annual-professional-conference-symposium
#16
M Clokie, A L Greenway, K Harding, N J Jones, K Vedhara, F Game, K K Dhatariya
Diabetes-related foot disease remains a common problem. For wounds, classic teaching recommends the treatment of any infection, offloading the wound and ensuring a good blood supply, as well as ensuring that the other modifiable risk factors are addressed and optimized. There remain, however, several questions about these and other aspects of the care of diabetes-related foot disease. Some of these questions are addressed in the present report; in particular, the impact of newer technologies in the identification of any organisms present in a wound, as well as the use of novel approaches to treat infections...
December 28, 2016: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28018094/a-rare-case-of-idiopathic-thumb-cmc-joint-neuropathic-arthropathy-complicated-by-blunt-trauma
#17
Manavdeep Singh, R R Butala, R G Khedekar, Manish Tripati
Neuropathic arthropathy (Charcot joints), which most frequently affects the weight-bearing joints of the body, is commonly associated with a variety of medical and neurological conditions, and is notoriously difficult to treat due to the nature of the underlying pathology. We present a case of idiopathic neuropathic arthropathy of the thumb CMC joint of an elderly female complicated by blunt trauma to the thumb. To our knowledge, this is the first reported case in the literature of this rare association.
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28007994/axonal-neuropathy-with-neuromyotonia-there-is-a-hint
#18
Kristien Peeters, Teodora Chamova, Ivailo Tournev, Albena Jordanova
Recessive mutations in the gene encoding the histidine triad nucleotide binding protein 1 (HINT1) were recently shown to cause a motor-predominant Charcot-Marie-Tooth neuropathy. About 80% of the patients exhibit neuromyotonia, a striking clinical and electrophysiological hallmark that can help to distinguish this disease and to guide diagnostic screening. HINT1 neuropathy has worldwide distribution and is particularly prevalent in populations inhabiting central and south-eastern Europe. With 12 different mutations identified in more than 60 families, it ranks among the most common subtypes of axonal Charcot-Marie-Tooth neuropathy...
December 21, 2016: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28005197/sbf1-mutations-associated-with-autosomal-recessive-axonal-neuropathy-with-cranial-nerve-involvement
#19
Andreea Manole, Alejandro Horga, Josep Gamez, Nuria Raguer, Maria Salvado, Beatriz San Millán, Carmen Navarro, Alan Pittmann, Mary M Reilly, Henry Houlden
Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. Pathogenicity of these variants is supported by co-segregation and in silico analyses and evolutionary conservation...
December 22, 2016: Neurogenetics
https://www.readbyqxmd.com/read/28000962/hypoxia-causes-il-8-secretion-charcot-leyden-crystal-formation-and-suppression-of-corticosteroid-induced-apoptosis-in-human-eosinophils
#20
Linsey M Porter, Andrew S Cowburn, Neda Farahi, John Deighton, Stuart N Farrow, Christine A Fiddler, Jatinder K Juss, Alison M Condliffe, Edwin R Chilvers
BACKGROUND: Inflamed environments are typically hypercellular, rich in pro-inflammatory cytokines, and profoundly hypoxic. While the effects of hypoxia on neutrophil longevity and function have been widely studied, little is known about the consequences of this stimulus on eosinophils. OBJECTIVE: We sought to investigate the effects of hypoxia on several key aspects of eosinophil biology; namely secretion, survival, and their sensitivity to glucocorticosteroids (GCS), agents which normally induce eosinophil apoptosis...
December 21, 2016: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
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