نتایج جستجو برای: metabolic myopathy

تعداد نتایج: 230155  

2014
Sun Hee Lee Yong Hee Hong

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal o...

Journal: :Proceedings of the Royal Society of Medicine 1933

2008

)ften difficult. Often, clinical tésting of the sensory :uflctions is neither reliable nor helpful in the determination. Theoretically, predominant proximal . veakness, neck flexor weakness, and facial weakness occur more often in patients with myopathy. Dn needle electromyography, low amplitudes and short duration of the motor unit potentials suggest myopathy. Normal sensory nerve action poten...

Journal: :The Journal of nutrition 2005
Ellen L Burnham Marc Moss Thomas R Ziegler

Myopathies related to critical illness have received increasing recognition over the past decade and are common in patients even after a brief period in the intensive care unit. Recent studies have revealed that myopathies in the critically ill may in fact be more prevalent than neuropathies and that morbidity and mortality may be greater. Protein catabolism, an increase in urinary nitrogen los...

Journal: :Arquivos de neuro-psiquiatria 2010
Anderson Kuntz Grzesiuk Sueli Mieko Oba Shinjo Roseli da Silva Marcela Machado Marcial Francis Galera Suely Kazue Nagahashi Marie

UNLABELLED Pompe's disease (PD) is a metabolic myopathy caused by the accumulation of lysosomal glycogen, secondary to acid alpha-glucosidase (GAA) enzyme deficiency. Childhood and late-onset forms are described, differing by the age of onset and symptoms. In this study were analyzed affected siblings with Pompe's disease (PD) and their distinct clinical and pathological presentations. METHOD...

Journal: :Cell metabolism 2016
Joni Nikkanen Saara Forsström Liliya Euro Ilse Paetau Rebecca A Kohnz Liya Wang Dmitri Chilov Jenni Viinamäki Anne Roivainen Päivi Marjamäki Heidi Liljenbäck Sofia Ahola Jana Buzkova Mügen Terzioglu Nahid A Khan Sini Pirnes-Karhu Anders Paetau Tuula Lönnqvist Antti Sajantila Pirjo Isohanni Henna Tyynismaa Daniel K Nomura Brendan J Battersby Vidya Velagapudi Christopher J Carroll Anu Suomalainen

Mitochondrial dysfunction affects cellular energy metabolism, but less is known about the consequences for cytoplasmic biosynthetic reactions. We report that mtDNA replication disorders caused by TWINKLE mutations-mitochondrial myopathy (MM) and infantile onset spinocerebellar ataxia (IOSCA)-remodel cellular dNTP pools in mice. MM muscle shows tissue-specific induction of the mitochondrial fola...

Journal: :Equine veterinary journal. Supplement 2012
J Janicek M A F Lopes D A Wilson S Reed K G Keegan

REASONS FOR PERFORMING STUDY Fibrotic myopathy can cause incapacitating gait abnormalities. Transection of the fibrotic mass followed by early post operative exercise is the best treatment for fibrotic myopathy. A laser may be used to transect the fibrotic mass. Assessment of the effectiveness of therapies for fibrotic myopathy has been limited to subjective evaluation. OBJECTIVES To objectiv...

Journal: :Functional neurology 2006
Stefano Zoccolella Luigi Serlenga Angela Amati Vito Lavolpe Nicola Minerva Mohammed Agremorz Antonio Toscano Paolo Lamberti

Several cases of inflammatory myopathy have been reported during the chronic course of hepatitis C (HC) in recent years. It has been suggested that this muscular inflammatory involvement in HC is related to an immune-mediated mechanism caused by the hepatitis C virus (HCV), as HCV RNA has been detected in the muscle of patients with concomitant inflammatory myopathy and chronic HC. Herein, we r...

2017
Soo Hyun Park Kyung Seok Park Nam Hee Kim Joong Yang Cho Moon Soo Koh Jin Ho Lee

Clevudine was approved as an antiviral agent for hepatitis B virus, which showed marked, rapid inhibition of virus replication without significant toxicity. However, several studies have reported myopathy associated with clevudine therapy. Also, we experienced seven patients who suffered from myopathy during clevudine therapy. To characterize clevudine-induced myopathy, we collected previously ...

2011
Muhammad A Khan Eric Larson

INTRODUCTION Acute myopathy caused by oral corticosteroids is rare. We present a case of myopathy occurring after two doses of methylprednisolone. Typically, acute steroid myopathy occurs with therapy using intravenous corticosteroids at high doses. Acute myopathy developing very early in the course of treatment with oral corticosteroids has been reported only once in the literature. Corticoste...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید