نتایج جستجو برای: metabolic myopathy
تعداد نتایج: 230155 فیلتر نتایج به سال:
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...
)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...
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...
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...
Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism.
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...
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...
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...
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 ...
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...
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