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Mitochondrial cytopathy

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https://www.readbyqxmd.com/read/27881060/mtdna-damage-associated-with-mitochondrial-cytopathies
#1
Anastasia I Ryzhkova, Alexandra A Melnichenko, Zukhra B Khasanova, Andrey V Zhelankin, Konstantin Y Mitrofanov, Anton Yu Postnov, Alexander N Orekhov, Igor A Sobenin
Mitochondrial cytopathies are a group of diseases which occur in case of disturbance of the functional activity of mitochondria. Mitochondrial diseases are a heterogeneous group of multiple organ pathologies, mainly affecting the nervous and muscular systems. The causes of mitochondrial cytopathies may be nuclear genome mutations occurring in genes coding mitochondrial proteins and mitochondrial genome mutations which occur sporadically or maternally inherited. At the present time many factors leading to the occurrence of mutations are known...
November 23, 2016: Current Pharmaceutical Design
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/27721218/not-for-adults-only-mitraclip-use-in-a-paediatric-patient
#3
Denise C Joffe, Thomas K Jones, Mark Reisman, Elizabeth Perpetua, Yuk Law, Andreas Schuler, G Burkhard Mackensen
We present the primary report of a paediatric patient who had placement of the MitraClip device for severe functional mitral regurgitation. The patient was a 14-year-old boy with symptomatic end-stage non-compaction type cardiomyopathy secondary to a mitochondrial cytopathy. He had severe mitral regurgitation, tricuspid valve regurgitation, a severely dilated LV with apical non-compaction, severe LV dysfunction and severe pulmonary hypertension. Despite optimal medical therapy he developed progressive symptoms of congestive heart failure and he was not a candidate for an assist device or cardiac transplantation...
October 10, 2016: EuroIntervention
https://www.readbyqxmd.com/read/27372878/is-age-related-failure-of-metabolic-reprogramming-a-principal-mediator-in-idiopathic-parkinson-s-disease-implications-for-treatment-and-inverse-cancer-risk
#4
Peter A Engel
Idiopathic Parkinson's disease (IPD) is a neurodegenerative disorder characterized by selective degeneration of the substantia nigra pars compacta (SNc), dorsal motor nucleus of the vagus and other vulnerable nervous system regions characterized by extensive axonal arborization and intense energy requirements. Systemic age-related depression of mitochondrial function, oxidative phosphorylation (OXPHOS) and depressed expression of genes supporting energy homeostasis is more severe in IPD than normal aging such that energy supply may exceed regional demand...
August 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/26996063/mitochondrial-cytopathies
#5
REVIEW
Ayman W El-Hattab, Fernando Scaglia
Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Most of mitochondrial proteins are encoded by the nuclear DNA (nDNA) whereas a very small fraction is encoded by the mitochondrial DNA (mtDNA). Mutations in mtDNA or mitochondria-related nDNA genes can result in mitochondrial dysfunction which leads to a wide range of cellular perturbations including aberrant calcium homeostasis, excessive reactive oxygen species production, dysregulated apoptosis, and insufficient energy generation to meet the needs of various organs, particularly those with high energy demand...
September 2016: Cell Calcium
https://www.readbyqxmd.com/read/26935953/sigmoid-volvulus-in-a-patient-with-mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas-a-rare-occurrence
#6
Alexander Hallac, Hari B Keshava, Gareth Morris-Stiff, Samuel Ibrahim
Mitochondrial diseases are rare and devastating, with a wide spectrum of clinical presentations and systemic symptoms. The majority of the published literature focuses on the neuromuscular manifestations and genetic components of this mitochondrial cytopathy, however, cardiac, renal, endocrine and gastrointestinal manifestations may also be present. The authors report a case detailing a 56-year-old woman's final hospitalisation from the gastrointestinal sequelae of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) (Co Q10 deficiency variant)...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/26804019/mitochondrial-dysfunction-in-inherited-renal-disease-and-acute-kidney-injury
#7
REVIEW
Francesco Emma, Giovanni Montini, Samir M Parikh, Leonardo Salviati
Mitochondria are increasingly recognized as key players in genetic and acquired renal diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by tubular defects, but glomerular, tubulointerstitial and cystic diseases have also been described. For example, defects in coenzyme Q10 (CoQ10) biosynthesis and the mitochondrial DNA 3243 A>G mutation are important causes of focal segmental glomerulosclerosis in children and in adults, respectively. Although they sometimes present with isolated renal findings, mitochondrial diseases are frequently associated with symptoms related to central nervous system and neuromuscular involvement...
May 2016: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/26557169/a-case-of-mitochondrial-cytopathy-with-exertion-induced-dystonia
#8
Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac
Paroxysmal dystonias are a group of relatively benign hyperkinetic childhood movement disorders of varied etiology. Mitochondrial diseases are well known to produce persistent dystonias as sequelae, but paroxysmal exertion induced dystonia has been reported in only one case to the best of our knowledge. Two siblings born to consanguineous parents presented with early-onset exertion induced dystonia, which was unresponsive to diphenylhydantoin and carbamazepine. A trial with valproate in one of the siblings turned fatal within 24 h...
July 2015: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/26443301/novel-brain-mri-abnormalities-in-gitelman-syndrome
#9
Ahmed El Beltagi, Alexander Norbash, Surjith Vattoth
Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. The syndrome is caused by a defective thiazide-sensitive sodium chloride co-transporter in the distal convoluted tubules of the kidneys. Gitelman syndrome could be confused with Bartter syndrome; the main differentiating feature is the presence of low urinary calcium excretion in the former. Descriptions of neuroradiological imaging findings associated with Gitelman syndrome are very scarce in the literature and include basal ganglia calcification, idiopathic intracranial hypertension and sclerochoroidal calcification...
October 2015: Neuroradiology Journal
https://www.readbyqxmd.com/read/25684538/genetic-and-biochemical-intricacy-shapes-mitochondrial-cytopathies
#10
REVIEW
Douglass M Turnbull, Pierre Rustin
The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today up to 300 mutations were identified in the mitochondrial genome and about 200 nuclear genes are possibly mutated. In this review, we highlight a number of features specific to mitochondria which possibly participate in the complexity of these diseases. These features include both the complexity of mitochondrial genetics and the multiplicity of the roles ensured by the organelles in numerous aspects of cell life and death...
August 2016: Neurobiology of Disease
https://www.readbyqxmd.com/read/25618784/potential-contributions-of-the-tobacco-nicotine-derived-nitrosamine-ketone-nnk-in-the-pathogenesis-of-steatohepatitis-in-a-chronic-plus-binge-rat-model-of-alcoholic-liver-disease
#11
Valerie Zabala, Ming Tong, Rosa Yu, Teresa Ramirez, Emine B Yalcin, Silvia Balbo, Elizabeth Silbermann, Chetram Deochand, Kavin Nunez, Stephen Hecht, Suzanne M de la Monte
AIMS: Alcoholic liver disease (ALD) is linked to binge drinking and cigarette smoking. Heavy chronic ± binge alcohol, or low-level exposures to dietary nitrosamines cause steatohepatitis with insulin resistance and oxidative stress in animal models. This study examines hepatotoxic effects of sub-mutagenic exposures to tobacco-specific nitrosamine (NNK) in relation to ALD. METHODS: Long Evans rats were fed liquid diets containing 0 or 26% (caloric) ethanol (EtOH) for 8 weeks...
March 2015: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/25582874/peripheral-neuropathy-and-parkinsonism-a-large-clinical-and-pathogenic-spectrum
#12
REVIEW
Anne Vital, Sebastien Lepreux, Claude Vital
Peripheral neuropathy (PN) has been reported in idiopathic and hereditary forms of parkinsonism, but the pathogenic mechanisms are unclear and likely heterogeneous. Levodopa-induced vitamin B12 deficiency has been discussed as a causal factor of PN in idiopathic Parkinson's disease, but peripheral nervous system involvement might also be a consequence of the underlying neurodegenerative process. Occurrence of PN with parkinsonism has been associated with a panel of mitochondrial cytopathies, more frequently related to a nuclear gene defect and mainly polymerase gamma (POLG1) gene...
December 2014: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/25565765/bilateral-lid-brow-elevation-procedure-for-severe-ptosis-in-kearns-sayre-syndrome-a-mitochondrial-cytopathy
#13
Roberto Sebastiá, Ester Fallico, Matteo Fallico, Eduardo Fortuna, Sergio Lessa, Guilherme Herzog Neto
BACKGROUND: The purpose of this work was to determine the effectiveness and possible complications encountered with bilateral fascia lata lid suspension used to correct blepharoptosis in patients with Kearns-Sayre syndrome. METHODS: This was a retrospective study of seven patients with Kearns-Sayre syndrome who had a minimum of 1 year of follow-up. A bilateral fascia lata sling was used to correct the ptosis. Preoperative and postoperative measurements of the vertical lid fissure width (VFW) and marginal reflex distance (MRD) were performed...
2015: Clinical Ophthalmology
https://www.readbyqxmd.com/read/25540845/systematic-review-of-cardiac-electrical-disease-in-kearns-sayre-syndrome-and-mitochondrial-cytopathy
#14
REVIEW
Peter Kabunga, Antony K Lau, Kevin Phan, Rajesh Puranik, Christina Liang, Ryan L Davis, Carolyn M Sue, Raymond W Sy
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder characterised by onset before the age of 20years, progressive external ophthalmoplegia, and pigmentary retinopathy, accompanied by either cardiac conduction defects, elevated cerebrospinal fluid protein or cerebellar ataxia. 50% of patients with KSS develop cardiac complications. The most common cardiac manifestation is conduction disease which may progress to complete atrioventricular block or bradycardia-related polymorphic ventricular tachycardia (PMVT)...
February 15, 2015: International Journal of Cardiology
https://www.readbyqxmd.com/read/25484535/recurrent-episodic-acute-kidney-injury-as-presenting-manifestation-of-mitochondrial-myopathy
#15
T P Matthai, U G Zachariah, S M Matthai
Mitochondrial cytopathies (MC) are a rare heterogenous group of disorders with frequent multisystem involvement including uncommon renal manifestations. Acute kidney injury (AKI) as the primary manifestation of MC is extremely rare. Here, we report a case of recurrent episodic AKI in an adult male who was subsequently diagnosed to have mitochondrial disease.
November 2014: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/25350944/pathological-similarities-between-low-birth-weight-related-nephropathy-and-nephropathy-associated-with-mitochondrial-cytopathy
#16
Toshiyuki Imasawa, Masashi Tanaka, Naoki Maruyama, Takehiko Kawaguchi, Yutaka Yamaguchi, Rodrigue Rossignol, Hiroshi Kitamura, Motonobu Nishimura
BACKGROUND: Individuals born with a low birth weight (LBW) have a higher risk of developing kidney dysfunction during their lifetime and sometimes exhibit focal segmental glomerulosclerosis (FSGS) lesions in their glomeruli. We herein try to obtain other pathological characteristics of LBW-related nephropathy. METHODS: We retrospectively evaluated the renal pathology of four patients demonstrating FSGS with a history of LBW. Two mitochondrial cytopathy patients were also analyzed...
2014: Diagnostic Pathology
https://www.readbyqxmd.com/read/25128282/vasodilatation-of-multiple-cerebral-arteries-in-early-stage-of-stroke-like-episode-with-melas
#17
Shoko Minobe, Akiko Matsuda, Tetsuya Mitsuhashi, Motonao Ishikawa, Yoshiko Nishimura, Koichi Shibata, Eiichi Ito, Yu-ichi Goto, Takashi Nakaoka, Hiroshi Sakura
We describe a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), with multiple cerebral vasodilatations in a stroke-like episode visualised by using magnetic resonance angiography (MRA) and CT angiography (CTA). In the acute stroke-like episode stage, T2-weighted and fluid-attenuated inversion recovery MRI showed high-intensity areas in the left occipital area. In addition, MRA and CTA revealed prominent dilatation of the left posterior cerebral artery and temporal branches of the middle cerebral artery with focal hyperperfusions using CT perfusion (CTP) that corresponded to the MRI...
February 2015: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/25088491/7501-t%C3%A2-%C3%A2-a-mitochondrial-dna-variant-in-a-patient-with-glomerulosclerosis
#18
Toshiyuki Imasawa, Masashi Tanaka, Yutaka Yamaguchi, Takashi Nakazato, Hiroshi Kitamura, Motonobu Nishimura
The presence of granular swollen epithelial cells (GSECs) in tubular cells was recently reported to be a specific change associated with mitochondrial cytopathy. However, at present, GSEC is not routinely evaluated. We, in this study, present a case of glomerulosclerosis, in which the presence of GSECs should provide us one clue to understand the pathogenesis of its progressive decline of renal function. A 54-year-old Japanese female, who had been diagnosed with Graves' disease, was referred for the examination and treatment of her proteinuria (5...
October 2014: Renal Failure
https://www.readbyqxmd.com/read/25061332/kearns-sayre-syndrome-a-case-series-of-35-adults-and-children
#19
Sherezade Khambatta, Douglas L Nguyen, Thomas J Beckman, Christopher M Wittich
BACKGROUND: Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958. AIMS: We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS. METHODS: We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients identified with KSS were analyzed in terms of demographic characteristics, presenting signs and symptoms, diagnostic features, clinical evolution, and associations between disease features and the development of disability...
2014: International Journal of General Medicine
https://www.readbyqxmd.com/read/25008908/exercise-as-a-therapeutic-strategy-for-primary-mitochondrial-cytopathies
#20
REVIEW
Mark A Tarnopolsky
Patients with mitochondrial cytopathies often experience exercise intolerance and may have fixed muscle weakness, leading to impaired functional capacity and lower quality of life. Endurance exercise training increases Vo 2 max, respiratory chain enzyme activity, and improves quality of life. Resistance exercise training increases muscle strength and may lower mutational burden in patients with mitochondrial DNA deletions. Both modes of exercise appear to be well tolerated. Patients with mitochondrial cytopathy should consider alternating both types of exercise to derive the benefits from each (endurance = greater aerobic fitness; resistance = greater strength)...
September 2014: Journal of Child Neurology
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