نتایج جستجو برای: lysosomal myopathy

تعداد نتایج: 27249  

Journal: :Hong Kong medical journal = Xianggang yi xue za zhi 1999
S SL Choi K F Chan H K Ng W P Mak

Myopathy and neuropathy that have been induced by colchicine have been described only occasionally, although colchicine is a widely used drug. We describe a case of colchicine-induced myopathy and neuropathy in an 84-year-old woman who had renal impairment. Results from a muscle biopsy showed characteristic vacuolar myopathy and autophagic vacuoles. The cessation of medication resulted in a mar...

Journal: :iranian journal of neurology 0
jon andoni urtizberea school of myology, institute of myology, paris and gnmh neuromuscular reference center, marine hospital, hendaye, france.

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Journal: :Current neurology and neuroscience reports 2008
Adele D'Amico Enrico Bertini

This review focuses on congenital myopathies, a distinct but markedly heterogeneous group of muscle disorders that present with muscle weakness and typically appear at birth or in infancy. These myopathies have characteristic histopathologic abnormalities on muscle biopsy, allowing a preliminary morphologic classification. Advances in molecular genetics have allowed a more rational classificati...

Journal: :Human molecular genetics 2011
Coen A C Ottenheijm Michael W Lawlor Ger J M Stienen Henk Granzier Alan H Beggs

Nemaline myopathy, the most common non-dystrophic congenital myopathy, is caused by mutations in six genes, all of which encode thin-filament proteins, including NEB (nebulin) and TPM3 (α tropomyosin). In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in p...

Background and purpose: Statins are among the most widely used drugs in treatment of cardiovascular diseases. Reducing the side effects of these drugs is of great importance in preventing treatment failure. The aim of this study was to investigate the role of rs4149056 polymorphism in statin-induced myopathy in patients with cardiovascular diseases in West of Mazandaran province, Iran. Materia...

Jafar Shahraki Jalal Pourahmad, Mohammad Reza Eskandari, Yassar Mortada

In this research, we investigated the cytotoxic mechanisms of one of the widely used pharmaceuticals that are regularly associated with the adverse effects on the liver, sometimes leading to acute liver failure, diclofenac. Diclofenac liver cytotoxicity was associated with reactive oxygen species (ROS) formation and lipid peroxidation which were inhibited by antioxidants and ROS scavengers, fer...

Journal: :Gut 1993
R Lowsky G Davidson S Wolman K N Jeejeebhoy R A Hegele

A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is ...

Jafar Shahraki Jalal Pourahmad, Mohammad Reza Eskandari, Yassar Mortada

In this research, we investigated the cytotoxic mechanisms of one of the widely used pharmaceuticals that are regularly associated with the adverse effects on the liver, sometimes leading to acute liver failure, diclofenac. Diclofenac liver cytotoxicity was associated with reactive oxygen species (ROS) formation and lipid peroxidation which were inhibited by antioxidants and ROS scavengers, fer...

Ahmet Cagdas Acara Mehtap Bulut, Muhittin İşsever Mustafa Bolatkale, Ulaş Karaoğlu

 Statins are commonly used drugs in the treatment of hyperlipidemia (HL), despite some undesirable side effects. These range from mild symptoms such as myopathy, muscle weakness and myalgia to severe muscle weakness associated with chronic myopathy and acute renal failure (ARF) as a result of rhabdomyolysis. The most serious and deadly side effect of statins is rhabdomyolysis. The case presente...

Journal: :Current opinion in neurology 2008
May Christine V Malicdan Satoru Noguchi Ichizo Nishino

PURPOSE OF REVIEW Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. RECENT FINDINGS...

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