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MELAS Mitochondrial Encephalomyopathy Lactic Acidosis Strokelike Episodes

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MELAS in a Walk-in Customer.

Josef Finsterer,

J Neurosci Rural Pract (Journal of neurosciences in rural practice)
[2019, 10(4):725-727]

Cited: 0 times

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Consensus-based statements for the management of mitochondrial stroke-like episodes.

Yi Shiau Ng, Laurence A Bindoff, Gráinne S Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D S Pitceathly, Andrew M Schaefer, Doug M Turnbull,

Background: Focal-onset seizures and encephalopathy are prominent features of a stroke-like episode, which is a severe neurological manifestation associated with subtypes of mitochondrial disease. Despite more than 30 years of research, the acute treatment of stroke-like episodes remains controversial. Methods: We used the modified Delphi process to harness the clinical ... Read more >>

Wellcome Open Res (Wellcome open research)
[2019, 4:201]

Cited: 0 times

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White matter connection's damage, not cortical activation, leading to language dysfunction of mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes.

Na Ye, Jing-Yi Liu, Xi-Ping Gong, Hui Qu, Ke-Hui Dong, Yan-Ling Ma, Wei-Li Jia, Zhao-Zhao Wang, Yuan-Jun Li, Yu-Mei Zhang,

Chin. Med. J. (Chinese medical journal)
[2019, 132(5):597-599]

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Mitochondrial Dysfunction in Cardiac Surgery.

Anne D Cherry,

Mitochondria are key to the cellular response to energetic demand, but are also vital to reactive oxygen species signaling, calcium hemostasis, and regulation of cell death. Cardiac surgical patients with diabetes, heart failure, advanced age, or cardiomyopathies may have underlying mitochondrial dysfunction or be more sensitive to perioperative mitochondrial injury. ... Read more >>

Anesthesiol Clin (Anesthesiology clinics)
[2019, 37(4):769-785]

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[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases].

Florentine Radelfahr, Thomas Klopstock,

Mitochondrial diseases (MD) represent a heterogenous group of disorders and syndromes caused either by mutations of the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). They belong to the most frequent neurogenetic diseases. The spectrum of clinical manifestations is very broad ranging from mild subclinical presentations to rapidly progressive debilitating ... Read more >>

Fortschr Neurol Psychiatr (Fortschritte der Neurologie-Psychiatrie)
[2018, 86(9):584-591]

Cited: 1 time

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Mitochondrial DNA Integrity: Role in Health and Disease.

Priyanka Sharma, Harini Sampath,

As the primary cellular location for respiration and energy production, mitochondria serve in a critical capacity to the cell. Yet, by virtue of this very function of respiration, mitochondria are subject to constant oxidative stress that can damage one of the unique features of this organelle, its distinct genome. Damage ... Read more >>

Cells (Cells)
[2019, 8(2):]

Cited: 2 times

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Reversible Homonymous Inferior Quadrantanopia in a Nonketotic Hyperglycemic Patient.

A López-Amorós, V Medrano-Martínez, I Francés-Pont, L Hernández-Rubio, L González-Fernández, S Fernández-Izquierdo, J Mallada-Frechin,

Homonymous hemianopia is frequently associated with retrochiasmal lesions. Vascular etiology is the most common and usually evident on magnetic resonance imaging. When the results of neuroimaging are normal, there are other etiologies that we should consider, like nonketotic hyperglycemia (NKH). We report a 62-year-old female diabetic patient with headache, colour ... Read more >>

Neuroophthalmology (Neuro-ophthalmology (Aeolus Press))
[2020, 44(1):45-48]

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Endocrine Disorders in Primary Mitochondrial Disease.

Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack,

Context:Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective:To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design Setting and Patients:The North American Mitochondrial ... Read more >>

J Endocr Soc (Journal of the Endocrine Society)
[2018, 2(4):361-373]

Cited: 6 times

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Cognitive impairment in neuromuscular diseases: A systematic review.

Marco Orsini, Ana Carolina, Andorinho de F Ferreira, Anna Carolina Damm de Assis, Thais Magalhães, Silmar Teixeira, Victor Hugo Bastos, Victor Marinho, Thomaz Oliveira, Rossano Fiorelli, Acary Bulle Oliveira, Marcos R G de Freitas,

Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as cognition and motor control. To review the knowledge and obtain a broad view of the cognitive ... Read more >>

Neurol Int (Neurology international)
[2018, 10(2):7473]

Cited: 3 times

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Recent perspectives of pediatric mitochondrial diseases.

Junhua Cao, Hongwei Wu, Zhenguang Li,

Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain. The disorders are clinically and genetically heterogeneous and the aetiology could be found in the mitochondrial, or in the ... Read more >>

Exp Ther Med (Experimental and therapeutic medicine)
[2018, 15(1):13-18]

Cited: 1 time

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Hereditary myopathies with early respiratory insufficiency in adults.

Elie Naddaf, Margherita Milone,

Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults.We reviewed the clinical and laboratory data of patients with hereditary myopathies who demonstrated early respiratory insufficiency before the need for ambulatory assistance. Only patients with disease-causing mutations or a specific ... Read more >>

Muscle Nerve (Muscle & nerve)
[2017, 56(5):881-886]

Cited: 4 times

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Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

Mary Kay Koenig, Lisa Emrick, Amel Karaa, Mark Korson, Fernando Scaglia, Sumit Parikh, Amy Goldstein,

Strokelike episodes are a cardinal feature of several mitochondrial syndromes, including mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). Recent advances in the understanding of the pathophysiologic mechanisms of strokelike episodes in MELAS have led to improved treatment options.Current understanding of the cause of strokelike episodes in MELAS and present ... Read more >>

JAMA Neurol (JAMA neurology)
[2016, 73(5):591-594]

Cited: 21 times

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The KHENERGY Study: Safety and Efficacy of KH176 in Mitochondrial m.3243A>G Spectrum Disorders.

Mirian C H Janssen, Saskia Koene, Paul de Laat, Pleun Hemelaar, Peter Pickkers, Edwin Spaans, Rypko Beukema, Julien Beyrath, Jan Groothuis, Chris Verhaak, Jan Smeitink,

KH176 is a potent intracellular reduction-oxidation-modulating compound developed to treat mitochondrial disease. We studied tolerability, safety, pharmacokinetics, pharmacodynamics, and efficacy of twice daily oral 100 mg KH176 for 28 days in a double-blind, randomized, placebo-controlled, two-way crossover phase IIA study in 18 adult m.3243A>G patients without cardiovascular involvement. Efficacy parameters included clinical ... Read more >>

Clin. Pharmacol. Ther. (Clinical pharmacology and therapeutics)
[2019, 105(1):101-111]

Cited: 1 time

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Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

Areeg El-Gharbawy, Jerry Vockley,

Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn ... Read more >>

Pediatr. Clin. North Am. (Pediatric clinics of North America)
[2018, 65(2):317-335]

Cited: 3 times

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Sudden Death Due to Undiagnosed Wilkie Syndrome.

Yeliena Fay Baber, Chris OʼDonnell,

A 56-year-old transgender woman with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome and diabetes presented to hospital with headaches and experiencing with malnutrition. She was agitated and refused medical and physical assistance. Soon after admission, she started to vomit and developed abdominal pain, becoming rapidly unresponsive on the ward ... Read more >>

Am J Forensic Med Pathol (The American journal of forensic medicine and pathology)
[2016, 37(2):54-56]

Cited: 1 time

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Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke.

Cláudia Marques-Matos, Jorge Reis, Carina Reis, Lígia Castro, Marta Carvalho,

JAMA Neurol (JAMA neurology)
[2016, 73(5):604-606]

Cited: 2 times

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Nitric Oxide Deficiency Triggering Strokelike Episodes-Reply.

Mary Kay Koenig,

JAMA Neurol (JAMA neurology)
[2016, 73(8):1030]

Cited: 0 times

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Nitric Oxide Deficiency Triggering Strokelike Episodes.

Josef Finsterer, Sinda Zarrouk-Mahjoub,

JAMA Neurol (JAMA neurology)
[2016, 73(8):1029-1030]

Cited: 0 times

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The aetiology of cardiovascular disease: a role for mitochondrial DNA?

Marianne Venter, Francois H van der Westhuizen, Joanna L Elson,

Cardiovascular disease (CVD) is a world-wide cause of mortality in humans and its incidence is on the rise in Africa. In this review, we discuss the putative role of mitochondrial dysfunction in the aetiology of CVD and consequently identify mitochondrial DNA (mtDNA) variation as a viable genetic risk factor to ... Read more >>

Cardiovasc J Afr (Cardiovascular journal of Africa)
[2018, 29(2):122-132]

Cited: 2 times

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Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role?

Rosaria De Luca, Margherita Russo, Simona Leonardi, Letteria Spadaro, Cettina Cicero, Antonino Naro, Placido Bramanti, Rocco Salvatore Calabrò,

Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (MELAS) is a rare inherited mitochondrial disorder, commonly due to the m.3243A>G mutation, which typically presents with seizures, headaches, and acute neurological stroke-mimicking deficits. At onset, there is often no general intellectual deterioration in these patients, although specific cognitive deficits in peculiar ... Read more >>

Appl Neuropsychol Adult (Applied neuropsychology. Adult)
[2016, 23(1):61-64]

Cited: 0 times

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Spectral-domain optical coherence tomography in mitochondrial encephalopathy, lactic acidosis, and strokelike episodes.

Eduardo V Navajas, Kunyong Xu,

Can. J. Ophthalmol. (Canadian journal of ophthalmology. Journal canadien d'ophtalmologie)
[2015, 50(6):e115-7]

Cited: 1 time

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Lactic Acidosis in Children - A Varied Presentation.

Ira Shah,

Primary lactic acidemias represent a family of disorders of pyruvate metabolism or defects in the respiratory chain. However, lactic acidosis may also be seen in metabolic disorders such as organic acidemias, urea cycle defects, and fatty acid oxidation defects, which can be easily excluded by serum ammonia estimation, urinary organic ... Read more >>

J Pediatr Intensive Care (Journal of Pediatric Intensive Care)
[2017, 6(3):206-208]

Cited: 0 times

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Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients.

Josef Finsterer, Sinda Zarrouk-Mahjoub,

J. Child Neurol. (Journal of child neurology)
[2015, 30(11):1553-1554]

Cited: 1 time

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A comparison of current serum biomarkers as diagnostic indicators of mitochondrial diseases.

Ryan L Davis, Christina Liang, Carolyn M Sue,

To directly compare the diagnostic utility of growth differentiation factor-15 (GDF-15) with our previous fibroblast growth factor-21 (FGF-21) findings in the same adult mitochondrial disease cohort.Serum GDF-15 levels were measured using a quantitative ELISA. Statistical analyses of GDF-15 data were compared with our published FGF-21 findings.Median serum GDF-15 concentrations were ... Read more >>

Neurology (Neurology)
[2016, 86(21):2010-2015]

Cited: 11 times

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Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation.

Scott T Demarest, Matthew T Whitehead, Sinan Turnacioglu, Phillip L Pearl, Andrea L Gropman,

The A to G mitochondrial DNA point mutation at position 3243 (A3243G) is the most common cause of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS), a systemic multiorgan disease. Epilepsy is a common finding but there is wide phenotypic variation that has not been thoroughly explored. We report the ... Read more >>

J. Child Neurol. (Journal of child neurology)
[2014, 29(9):1249-1256]

Cited: 8 times

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