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https://www.readbyqxmd.com/read/29333908/false-positive-acetylcholine-receptor-antibodies-in-a-case-of-unilateral-chronic-progressive-external-ophthalmoplegia-case-report-and-review-of-literature
#1
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato, Aidan Murray
METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis...
January 15, 2018: Orbit
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#2
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29290614/topoisomerase-3%C3%AE-is-required-for-decatenation-and-segregation-of-human-mtdna
#3
Thomas J Nicholls, Cristina A Nadalutti, Elisa Motori, Ewen W Sommerville, Gráinne S Gorman, Swaraj Basu, Emily Hoberg, Doug M Turnbull, Patrick F Chinnery, Nils-Göran Larsson, Erik Larsson, Maria Falkenberg, Robert W Taylor, Jack D Griffith, Claes M Gustafsson
How mtDNA replication is terminated and the newly formed genomes are separated remain unknown. We here demonstrate that the mitochondrial isoform of topoisomerase 3α (Top3α) fulfills this function, acting independently of its nuclear role as a component of the Holliday junction-resolving BLM-Top3α-RMI1-RMI2 (BTR) complex. Our data indicate that mtDNA replication termination occurs via a hemicatenane formed at the origin of H-strand replication and that Top3α is essential for resolving this structure. Decatenation is a prerequisite for separation of the segregating unit of mtDNA, the nucleoid, within the mitochondrial network...
December 14, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29246868/clinical-and-demographic-features-of-chronic-progressive-external-ophthalmoplegia-in-a-large-adult-onset-cohort
#4
Julia N Heighton, Lauren I Brady, Matthew C Newman, Mark A Tarnopolsky
Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. We evaluated the impact of sex and smoking status upon knee extension strength and the phenotypic spectrum of disease in a large cohort of adult-onset CPEO patients (N=116) using retrospective chart analysis. The CPEO patients showed significantly lower knee extension strength as compared to the age- and sex-matched control population (-37%, P<0.05). Smoking also negatively impacted knee extension strength only in women with CPEO (-26%, P<0...
December 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29228135/reply-dguok-recessive-mutations-in-patients-with-cpeo-mitochondrial-myopathy-parkinsonism-and-mtdna-deletions
#5
Dario Ronchi, Daniela Piga, Stefano Lamberti, Monica Sciacco, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Giacomo Pietro Comi
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29228108/dguok-recessive-mutations-in-patients-with-cpeo-mitochondrial-myopathy-parkinsonism-and-mtdna-deletions
#6
Leonardo Caporali, Luca Bello, Francesca Tagliavini, Chiara La Morgia, Alessandra Maresca, Lidia Di Vito, Rocco Liguori, Maria Lucia Valentino, Diego Cecchin, Elena Pegoraro, Valerio Carelli
No abstract text is available yet for this article.
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29190634/focal-segmental-glomerulosclerosis-associated-with-chronic-progressive-external-ophthalmoplegia-and-mitochondrial-dna-a3243g-mutation
#7
Kaori Narumi, Eikan Mishima, Yukako Akiyama, Tetsuro Matsuhashi, Takashi Nakamichi, Kiyomi Kisu, Shuhei Nishiyama, Hajime Ikenouchi, Akio Kikuchi, Rumiko Izumi, Mariko Miyazaki, Takaaki Abe, Hiroshi Sato, Sadayoshi Ito
Focal segmental glomerulosclerosis (FSGS) is caused by various etiologies, with mitochondrial dysfunction being one of the causes. FSGS is known to be associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is a subclass of mitochondrial disease. However, it has rarely been reported in other mitochondrial disease subclasses. Here, we reported a 20-year-old man diagnosed with FSGS associated with chronic progressive external ophthalmoplegia (CPEO) due to mitochondrial DNA (mtDNA) 3243A>G mutation...
November 30, 2017: Nephron
https://www.readbyqxmd.com/read/29156062/surgical-technique-for-pulled-in-two-syndrome-three-cases-with-chronic-progressive-external-ophthalmoplegia
#8
Alexander Matthew Jones, Julia Starte, Hamish Dunn, Kate Ahmad, Kimberley Tan
The authors describe three examples of "pulled in two syndrome" (PITS) from a series of 13 patients undergoing strabismus surgery with underlying chronic progressive external ophthalmoplegia (CPEO) and illustrate techniques for recovery of the "pulled in two" extraocular muscle should the complication arise. In all cases, a rectus muscle snapped under minimal tension while held on a strabismus hook during strabismus surgery. Two patients suffered from CPEO as a result of genetic mitochondrial disease, whereas one resulted from presumed mitochondrial toxicity induced by HAART...
November 17, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29139113/prevalence-of-headache-in-patients-with-mitochondrial-disease-a-cross-sectional-study
#9
Torsten Kraya, Marcus Deschauer, Pushpa Raj Joshi, Stephan Zierz, Charly Gaul
BACKGROUND: Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders...
November 15, 2017: Headache
https://www.readbyqxmd.com/read/29109957/-gold-pressed-essential-oil-an-essay-on-the-volatile-fragment-from-citrus-juice-industry-by-products-chemistry-and-bioactivity
#10
V N Kapsaski-Kanelli, E Evergetis, A Michaelakis, D P Papachristos, E D Myrtsi, S D Koulocheri, S A Haroutounian
Present essay explores the potentials of Citrus juice industry's by-products as alternative bioactive natural products resources. Four crude Cold Pressed Essential Oils (CPEOs), derived from orange, lemon, grapefruit, and mandarin, were studied. All CPEOs were subjected to water distillation, in order to obtain the volatile fragment, which was further fractionated with respect to distillation period in two parts, concluding to eight samples. These samples along with the four original CPEOs were assessed in relation to their phytochemical content and their repellent and larvicidal properties against Asian Tiger Mosquito...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29034153/efficacy-of-frontalis-suspension-with-silicone-rods-in-ptosis-patients-with-poor-bell-s-phenomenon
#11
Khyati P Shah, Bipasha Mukherjee
PURPOSE: The purpose of the study was to evaluate the efficacy of silicone rods as frontalis sling for correction of ptosis associated with poor Bell's phenomenon in specific situations. MATERIALS AND METHODS: A retrospective interventional case series of 25 eyes of 19 patients who underwent frontalis suspension surgery with silicone rods for ptosis correction from May 2006 to April 2011, was performed. Inclusion criteria included severe ptosis with poor Bell's phenomenon...
July 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/28867671/the-development-and-optimisation-of-3d-black-blood-r2-mapping-of-the-carotid-artery-wall
#12
Jianmin Yuan, Martin J Graves, Andrew J Patterson, Andrew N Priest, Pascal P R Ruetten, Ammara Usman, Jonathan H Gillard
PURPOSE: To develop and optimise a 3D black-blood R2* mapping sequence for imaging the carotid artery wall, using optimal blood suppression and k-space view ordering. METHODS: Two different blood suppression preparation methods were used; Delay Alternating with Nutation for Tailored Excitation (DANTE) and improved Motion Sensitive Driven Equilibrium (iMSDE) were each combined with a three-dimensional (3D) multi-echo Fast Spoiled GRadient echo (ME-FSPGR) readout...
December 2017: Magnetic Resonance Imaging
https://www.readbyqxmd.com/read/28695670/mitochondrial-dysfunction-and-cerebral-metabolic-abnormalities-in-patients-with-mitochondrial-encephalomyopathy-subtypes-evidence-from-proton-mr-spectroscopy-and-muscle-biopsy
#13
Feng-Nan Niu, Hai-Lan Meng, Lei-Lei Chang, Hong-Yan Wu, Wei-Ping Li, Ren-Yuan Liu, Hui-Ting Wang, Bing Zhang, Yun Xu
AIMS: Accumulated evidence indicates that cerebral metabolic features, evaluated by proton magnetic resonance spectroscopy ((1) H-MRS), are sensitive to early mitochondrion dysfunction associated with mitochondrial encephalomyopathy (ME). The metabolite ratios of lactate (lac)/Cr, N-acetyl aspartate (NAA)/creatine (Cr), total choline (tCho)/Cr, and myoinositol (mI)/Cr are measured in the infarct-like lesions by (1) H-MRS and may reveal metabolic changes associated with ME. However, the application of this molecular imaging technique in the investigation of the pathology of ME subtypes is unknown...
August 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28535487/nerve-excitability-changes-related-to-muscle-weakness-in-chronic-progressive-external-ophthalmoplegia
#14
Antoine Gueguen, Claude Jardel, Marc Polivka, S Veronica Tan, Françoise Gray, Catherine Vignal, Anne Lombès, Olivier Gout, Hugh Bostock
OBJECTIVE: To explore potential spreading to peripheral nerves of the mitochondrial dysfunction in chronic progressive external ophthalmoplegia (CPEO) by assessing axonal excitability. METHODS: CPEO patients (n=13) with large size deletion of mitochondrial DNA and matching healthy controls (n=22) were included in a case-control study. Muscle strength was quantified using MRC sum-score and used to define two groups of patients: CPEO-weak and CPEO-normal (normal strength)...
July 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28324239/mtdna-maintenance-defects-syndromes-and-genes
#15
Carlo Viscomi, Massimo Zeviani
A large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and quality control...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28128857/clinical-biochemical-molecular-and-histological-features-of-65-portuguese-patients-with-mitochondrial-disorders
#16
Simão Cruz, Ricardo Taipa, Célia Nogueira, Cristina Pereira, Lígia S Almeida, Raquel Neiva, Tiago Geraldes, António Guimarães, Manuel Melo-Pires, Laura Vilarinho
INTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO)...
November 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/27928383/late-onset-development-of-eyelid-ptosis-in-chronic-progressive-external-ophthalmoplegia-a-30-year-follow-up
#17
Jennifer Murdock, Preeti J Thyparampil, Michael T Yen
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy with slowly progressive, often symmetric blepharoptosis and limitation of ocular motility in all directions of gaze. The authors present an unusual case of CPEO that initially presented with the unique features of markedly asymmetric facial weakness and the lack of blepharoptosis. However, over the subsequent three decades, the patient developed progressive facial and eyelid dysfunction more consistent with a classical description of CPEO...
February 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27856367/dysphagia-is-prevalent-in-patients-with-cpeo-and-single-large-scale-deletions-in-mtdna
#18
Gitte Hedermann, Nicoline Løkken, Julia R Dahlqvist, John Vissing
BACKGROUND: The aim of this study was to assess the frequency of subjective and objective dysphagia in patients with chronic progressive external ophthalmoplegia (CPEO) due to single, large-scale deletions (LSDs) of mitochondrial DNA (mtDNA). METHODS: Sixteen patients with CPEO and single LSDs of mtDNA were included in the study and compared to a control group of 12 patients with the m.3243A>G mtDNA mutation. Patients had to drink 80ml of water at 4°C as fast as they could (cold-water test) and fill out a standardized questionnaire about dysphagia...
January 2017: Mitochondrion
https://www.readbyqxmd.com/read/27822509/peripheral-neuropathy-in-patients-with-cpeo-associated-with-single-and-multiple-mtdna-deletions
#19
Diana Lehmann, Malte E Kornhuber, Carolina Clajus, Charlotte L Alston, Andreas Wienke, Marcus Deschauer, Robert W Taylor, Stephan Zierz
OBJECTIVE: To characterize peripheral nerve involvement in patients with chronic progressive external ophthalmoplegia (CPEO) with single and multiple mitochondrial DNA (mtDNA) deletions, based on clinical scores and detailed nerve conduction studies. METHODS: Peripheral nerve involvement was prospectively investigated in 33 participants with CPEO (single deletions n = 18 and multiple deletions n = 15). Clinically, a modified Total Neuropathy Score (mTNS) and a modified International Cooperative Ataxia Rating Scale (mICARS) were used...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27570648/ion-channel-electrophysiology-ontology-icepo-a-case-study-of-text-mining-assisted-ontology-development
#20
Ravikumar Komandur Elayavilli, Hongfang Liu
BACKGROUND: Computational modeling of biological cascades is of great interest to quantitative biologists. Biomedical text has been a rich source for quantitative information. Gathering quantitative parameters and values from biomedical text is one significant challenge in the early steps of computational modeling as it involves huge manual effort. While automatically extracting such quantitative information from bio-medical text may offer some relief, lack of ontological representation for a subdomain serves as impedance in normalizing textual extractions to a standard representation...
2016: AMIA Summits on Translational Science Proceedings
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