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https://www.readbyqxmd.com/read/27891257/melas-syndrome-with-cardiac-involvement-a-multimodality-imaging-approach
#1
Sara Seitun, Laura Massobrio, Anna Rubegni, Claudia Nesti, Margherita Castiglione Morelli, Sara Boccalini, Athena Galletto Pregliasco, Irilda Budaj, Luca Deferrari, Gian Marco Rosa, Fabrizio Montecucco, Alberto Valbusa
A 49-year-old man presented with chest pain, dyspnea, and lactic acidosis. Left ventricular hypertrophy and myocardial fibrosis were detected. The sequencing of mitochondrial genome (mtDNA) revealed the presence of A to G mtDNA point mutation at position 3243 (m.3243A>G) in tRNA(Leu(UUR)) gene. Diagnosis of cardiac involvement in a patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes syndrome (MELAS) was made. Due to increased risk of sudden cardiac death, cardioverter defibrillator was implanted...
2016: Case Reports in Cardiology
https://www.readbyqxmd.com/read/27878137/mitochondrial-cytopathy-with-common-melas-mutation-presenting-as-multiple-system-atrophy-mimic
#2
Anne-Katrin Pröbstel, André Schaller, Johanna Lieb, Juergen Hench, Stephan Frank, Peter Fuhr, Ludwig Kappos, Michael Sinnreich
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome(1) is one of the most frequently inherited mitochondrial disorders. MELAS syndrome is a systemic disease with multiple organ involvement.(2) The most common mutation in MELAS is the m.3243A>G mutation in the MT-TL1 gene.(2).
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27815040/the-addition-of-ketone-bodies-alleviates-mitochondrial-dysfunction-by-restoring-complex-i-assembly-in-a-melas-cellular-model
#3
Samuel Frey, Guillaume Geffroy, Valerie Desquiret-Dumas, Naig Gueguen, Celine Bris, Sophie Belal, Patrizia Amati-Bonneau, Arnaud Chevrollier, Magalie Barth, Daniel Henrion, Guy Lenaers, Dominique Bonneau, Pascal Reynier, Vincent Procaccio
Ketogenic Diet used to treat refractory epilepsy for almost a century may represent a treatment option for mitochondrial disorders for which effective treatments are still lacking. Mitochondrial complex I deficiencies are involved in a broad spectrum of inherited diseases including Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes syndrome leading to recurrent cerebral insults resembling strokes and associated with a severe complex I deficiency caused by mitochondrial DNA (mtDNA) mutations...
November 1, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27742419/complex-i-deficiency-related-to-t10158c-mutation-nd3-gene-a-further-definition-of-the-clinical-spectrum
#4
Salvatore Grosso, Maria Alessandra Carluccio, Elena Cardaioli, Alfonso Cerase, Alessandro Malandrini, Chiara Romano, Antonio Federico, Maria Teresa Dotti
BACKGROUND: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. CASE PRESENTATION: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome...
October 11, 2016: Brain & Development
https://www.readbyqxmd.com/read/27683045/melas-syndrome-and-kidney-disease-without-fanconi-syndrome-or-proteinuria-a-case-report
#5
Michael Rudnicki, Johannes A Mayr, Johannes Zschocke, Herwig Antretter, Heinz Regele, René G Feichtinger, Martin Windpessl, Gert Mayer, Gerhard Pölzl
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNA(Leu(UUR)). Kidney involvement usually manifests as Fanconi syndrome or focal segmental glomerulosclerosis. We describe a patient with MELAS mutation, cardiomyopathy, and chronic kidney disease without Fanconi syndrome, proteinuria, or hematuria...
September 24, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27671241/epilepsy-characteristics-and-clinical-outcome-in-patients-with-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas
#6
Ha Neul Lee, Soyong Eom, Se Hoon Kim, Hoon-Chul Kang, Joon Soo Lee, Heung Dong Kim, Young-Mock Lee
BACKGROUND: Epileptic seizures in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) are heterogeneous with no pathognomonic features. We reviewed epilepsy characteristics and clinical outcome exclusively in a pediatric population. METHODS: Twenty-two children and adolescents (13 males) with confirmed mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes due to mitochondrial DNA A3243G mutation and epilepsy were recruited...
August 26, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27663492/melas-syndrome-presenting-with-seizure-and-deafness-in-a-malawian-boy
#7
Marita Macken, Gretchen L Birbeck
No abstract text is available yet for this article.
September 23, 2016: Tropical Doctor
https://www.readbyqxmd.com/read/27574278/posterior-spinal-instrumented-fusion-for-idiopathic-scoliosis-in-patients-with-multisystemic-neurodegenerative-disorder-a-report-of-two-cases
#8
K W Loh, C Yw Chan, C K Chiu, M S Bin Hasan, M K Kwan
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive multisystemic neurodegenerative disorder. MELAS syndrome impairs oxidative phosphorylation and predisposes patients to lactic acidosis, particularly under metabolic stress. We report 2 siblings with MELAS-associated idiopathic scoliosis who underwent posterior spinal instrumented fusion with measures taken to minimise anaesthetic and surgical stress, blood loss, and operating time.
August 2016: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/27562097/stroke-like-episodes-peri-episodic-seizures-and-melas-mutations
#9
Josef Finsterer, Salma Majid Wakil
PURPOSE: Stroke-like episodes (SLEs) are a hallmark of various mitochondrial disorders, in particular MELAS syndrome. SLEs manifest with vasogenic oedema (DWI and ADC hyperintensity) or partial cytotoxic oedema (DWI hyperintensity, ADC hypointensity) in the acute and subacute stage, and with gyriform T1-hyperintensity (cortical necrosis) in the chronic stage. PRINCIPAL RESULTS: SLEs must be clearly distinguished from ischaemic stroke, since management of these two entities is different...
December 0: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/27544610/unaltered-l-arginine-no-pathway-in-a-melas-patient-is-mitochondrial-no-synthase-involved-in-the-melas-syndrome
#10
Erik Hanff, Arslan Arinc Kayacelebi, Christoph Herrmann, Mark Obermann, Anibh Martin Das, Dimitrios Tsikas
No abstract text is available yet for this article.
November 15, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/27477183/imaging-of-melas
#11
REVIEW
Konark Malhotra, David S Liebeskind
Mitochondrial diseases are multisystem disorders that frequently involve the central nervous system. The clinical presentation of these disorders may be challenging to differentiate from cerebrovascular disorders. Various imaging techniques are now available that provide a wide range of imaging modalities during initial clinical evaluation and throughout the disease course. Recent technological advancements have introduced advanced neuroimaging modalities that provide detailed information of metabolic disorders at the tissue level...
September 2016: Current Pain and Headache Reports
https://www.readbyqxmd.com/read/27453332/acute-encephalopathy-of-the-temporal-lobes-leading-to-m-3243a-g-when-melas-is-not-always-melas
#12
Elena Caldarazzo Ienco, Daniele Orsucci, Costanza Simoncini, Vincenzo Montano, Annalisa LoGerfo, Gabriele Siciliano, Ubaldo Bonuccelli, Michelangelo Mancuso
MELAS syndrome (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a rare genetic condition whose differential diagnosis is often posed with juvenile stroke, but more rarely even with inflammatory/infectious encephalitis, causing diagnostic challenges. Here we report the case of a young man harbouring the m.3243A>G MELAS mutation presenting an acute onset mimicking the clinical and neuroimaging features of infective encephalitis.
September 2016: Mitochondrion
https://www.readbyqxmd.com/read/27403359/posterior-reversible-encephalopathy-syndrome-with-bilateral-independent-epileptic-foci-precipitated-by-guillain-barr%C3%A3-syndrome
#13
Rosario Rossi, Maria Valeria Saddi, Alessandro Mela, Anna Ticca
We report the case of a 56-year-old woman who developed status epilepticus (SE) related to independent occipital foci as clinical manifestation of posterior reversible encephalopathy syndrome (PRES) in the background of Guillain-Barrè syndrome (GBS). SE resulted from a series of focal seizures clinically characterized by left- and rightward deviations of the head and consequent oculoclonic movements. Electroencephalography recorded independent seizure activity in both occipital regions with alternate involvement of the two cerebral hemispheres...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27402949/teaching-neuroimages-medullary-lesions-causing-dysphagia-in-leigh-melas-overlap-syndrome
#14
Bhooma R Aravamuthan, Audrey R Nath, Partha S Ghosh
No abstract text is available yet for this article.
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27359089/audiological-manifestations-in-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas-syndrome
#15
V P Vandana, Parayil Sankaran Bindu, Kothari Sonam, Periyasamy Govindaraj, Arun B Taly, Narayanappa Gayathri, Shwetha Chiplunkar, Chikkanna Govindaraju, H R Arvinda, Madhu Nagappa, Sanjib Sinha, Kumarasamy Thangaraj
OBJECTIVES: Reports of audiological manifestations in specific subgroups of mitochondrial disorders are limited. This study aims to describe the audiological findings in patients with MELAS syndrome and m.3243A>G mutation. PATIENTS & METHODS: Audiological evaluation was carried out in eight patients with confirmed MELAS syndrome and m.3243A>G mutation. The evaluation included a complete neurological evaluation, pure tone audiometry (n=8), otoacoustic emissions (n=8) and brainstem evoked response audiometry (n=6), magnetic resonance imaging (n=8) and muscle biospy (n=6)...
September 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27348141/mitochondrial-encephalopathy-and-optic-neuropathy-due-to-m-10158-mt-nd3-complex-i-mutation-presenting-in-an-adult-patient-case-report-and-review-of-the-literature
#16
Ivana Vodopivec, Tracey A Cho, Joseph F Rizzo, Matthew P Frosch, Katherine B Sims
INTRODUCTION: Establishing a diagnosis of mitochondrial disease in adults remains a clinician's challenge. We report a case of syndrome reminiscent of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) in an adult patient who carries m.10158T>C mutation in complex I respiratory chain gene MT-ND3 (mitochondrially encoded NADH dehydrogenase 3). CASE REPORT: This 26-year-old man from Thailand presented with new-onset headaches, seizures, stroke-like episodes, and poor vision due to optic neuropathy and cortical blindness...
July 2016: Neurologist
https://www.readbyqxmd.com/read/27344355/mitochondrial-respiratory-chain-disorders-in-the-old-order-amish-population
#17
Lina Ghaloul-Gonzalez, Amy Goldstein, Catherine Walsh Vockley, Steven F Dobrowolski, Amy Biery, Afifa Irani, Jordan Ibarra, D Holmes Morton, Al-Walid Mohsen, Jerry Vockley
The Old Order Amish populations in the US are one of the Plain People groups and are descendants of the Swiss Anabaptist immigrants who came to North America in the early eighteenth century. They live in numerous small endogamous demes that have resulted in reduced genetic diversity along with a high prevalence of specific genetic disorders, many of them autosomal recessive. Mitochondrial respiratory chain deficiencies arising from mitochondrial or nuclear DNA mutations have not previously been reported in the Plain populations...
August 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27296531/the-phenotypic-spectrum-of-fifty-czech-m-3243a-g-carriers
#18
V Dvorakova, H Kolarova, M Magner, M Tesarova, H Hansikova, J Zeman, T Honzik
BACKGROUND: Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes syndrome (MELAS) is a common mitochondrial disorder with varying multisystemic clinical manifestation. We present a comprehensive clinical picture of 50 Czech m.3243A>G carriers with emphasis on the sequence of symptoms in symptomatic patients. RESULTS: Symptoms developed in 33 patients (66%) and 17 carriers remained unaffected (34%). The age of onset varied from 1month to 47years of age, with juvenile presentation occurring in 53% of patients...
August 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27245348/clinical-pregenetic-screening-for-stroke-monogenic-diseases-results-from-lombardia-gens-registry
#19
Anna Bersano, Hugh Stephen Markus, Silvana Quaglini, Eloisa Arbustini, Silvia Lanfranconi, Giuseppe Micieli, Giorgio B Boncoraglio, Franco Taroni, Cinzia Gellera, Silvia Baratta, Silvana Penco, Lorena Mosca, Maurizia Grasso, Paola Carrera, Maurizio Ferrari, Cristina Cereda, Gaetano Grieco, Stefania Corti, Dario Ronchi, Maria Teresa Bassi, Laura Obici, Eugenio A Parati, Alessando Pezzini, Maria Luisa De Lodovici, Elena P Verrengia, Giorgio Bono, Francesca Mazucchelli, Davide Zarcone, Maria Vittoria Calloni, Patrizia Perrone, Bianca Maria Bordo, Antonio Colombo, Alessandro Padovani, Anna Cavallini, Simone Beretta, Carlo Ferrarese, Cristina Motto, Elio Agostoni, Graziella Molini, Francesco Sasanelli, Manuel Corato, Simona Marcheselli, Maria Sessa, Giancarlo Comi, Nicoletta Checcarelli, Mario Guidotti, Davide Uccellini, Erminio Capitani, Lucia Tancredi, Marco Arnaboldi, Barbara Incorvaia, Carlo Sebastiano Tadeo, Laura Fusi, Giampiero Grampa, Giampaolo Merlini, Nadia Trobia, Giacomo Pietro Comi, Massimiliano Braga, Paolo Vitali, Pierluigi Baron, Caspar Grond-Ginsbach, Livia Candelise
BACKGROUND AND PURPOSE: Lombardia GENS is a multicentre prospective study aimed at diagnosing 5 single-gene disorders associated with stroke (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry disease, MELAS [mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes], hereditary cerebral amyloid angiopathy, and Marfan syndrome) by applying diagnostic algorithms specific for each clinically suspected disease METHODS: We enrolled a consecutive series of patients with ischemic or hemorrhagic stroke or transient ischemic attack admitted in stroke units in the Lombardia region participating in the project...
July 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27179223/application-of-molecular-imaging-combined-with-genetic-screening-in-diagnosing-melas-diabetes-and-recurrent-pancreatitis
#20
W Zhiping, L Quwen, Z Hai, Z Jian, G Peiyi
AIM: We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. MATERIAL AND METHODS: DNA sequencing was used to detect and validate mitochondrial DNA and PRSS1. We also verified that mitochondrial heterozygous mutations and c...
2016: Folia Neuropathologica
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