نتایج جستجو برای: mitochondrial myopathy

تعداد نتایج: 143464  

2016
Terence E. Ryan Cameron A. Schmidt Thomas D. Green Espen E. Spangenburg P. Darrell Neufer Joseph M. McClung

Patients with type 2 diabetes respond poorly to treatments for peripheral arterial disease (PAD) and are more likely to present with the most severe manifestation of the disease, critical limb ischemia. The underlying mechanisms linking type 2 diabetes and the severity of PAD manifestation are not well understood. We sought to test whether diet-induced mitochondrial dysfunction and oxidative st...

2010
Jin Suk Park Chong Wha Baek Hyun Kang Su Man Cha Jung Won Park Yong Hun Jung Young-Cheol Woo

A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In th...

Journal: :JIMD reports 2012
Gloria P Duran A Martinez-Aguayo H Poggi M Lagos D Gutierrez P R Harris

BACKGROUND Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns-Sayre syndrome. AIM To report a 3-year-old boy with Addison ...

2015
Craig A. Goodman Derk Pol Evelyn Zacharewicz Robert S. Lee-Young Rod J. Snow Aaron P. Russell Glenn K. McConell Ashok Kumar

One serious side effect of statin drugs is skeletal muscle myopathy. Although the mechanism(s) responsible for statin myopathy remains to be fully determined, an increase in muscle atrophy gene expression and changes in mitochondrial content and/or function have been proposed to play a role. In this study, we examined the relationship between statin-induced expression of muscle atrophy genes, r...

Journal: :Farmaciâ i Farmakologiâ (Pâtigorsk) 2022

The aim of the work was to analyze available therapeutic options for conventional therapy hereditary myopathies. Materials and methods. When searching material writing a review article, such abstract databases as PubMed Google Scholar were used. search carried out on publications during period from 1980 September 2022. following words their combinations selected parameters literature selection:...

Journal: :Anesthesia and analgesia 1995
T Kitoh K Mizuno T Otagiri A Ichinose J Sasao H Goto

Introduction Herein, we describe the interesting case of a 13-year-old female with Kearns-Sayre syndrome (KSS) who underwent a successful T3 ~ L3 posterior spinal instrumentation and fusion (PSIF). KSS is a rare mitochondrial myopathy with only 226 cases reported in published literature as of 1992. It is the result of deletions in mitochondrial DNA and manifests as a triad of: 1) chronic progre...

Journal: :Psychiatry and Clinical Neurosciences 2006

Journal: :Journal of neurology, neurosurgery, and psychiatry 1987
S Goda S Ishimoto I Goto Y Kuroiwa K Koike M Koike M Nakagawa H Reichmann S DiMauro

The alpha-keto acid dehydrogenase complex and its component enzymes, lactate dehydrogenase, pyruvate carboxylase, cytochrome c oxidase, succinate-cytochrome c reductase, NADH-cytochrome c reductase, and the concentration of cytochromes and enzymes of beta-oxidation in muscle from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes were studied and no ...

2013
Jung-Chul Joo Myung Do Seol Jin Won Yoon Young Soo Lee Dong-Keun Kim Yong Hoon Choi Hyo Seong Ahn Wook Hyun Cho

Myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a multisystem clinical syndrome manifested by mitochondrial myopathy, encephalopathy, lactic acidosis and recurrent stroke-like episodes. A 27-year-old female with MELAS syndrome presented with cerebral infarction. Echocardiography revealed a thrombus attached to the apex of the hypertrophied left ventricle, with decr...

Journal: :Journal of medical genetics 1988
J Poulton D M Turnbull A B Mehta J Wilson R M Gardiner

The mitochondrial myopathies are a heterogeneous group of disorders some of which may be caused by mutations in the mitochondrial genome. Mitochondrial DNA from 10 patients with mitochondrial myopathy and their mothers was analysed using five restriction enzymes and 11 mitochondrial probes in bacteriophage M13. No abnormalities were found in seven out of the 10 patients. Polymorphisms which hav...

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