Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The function of microphages has been studied in two patients with chronic pyoderma vegetans by in vitro determination of phagocytosis as well as chemotaxis. The results showed a striking decrease in the chemotactic activity of the neutrophil granulocytes, a reduced phagocytosis of Candida albicans and Staphylococcus aureus, and a weakness of the intracellular killing of these microorganisms. However, the NADH-dependent oxidase activity appeared to be intact. No defect was found in the specific cellular or humoral immune system in either patient.
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PMID:In vitro studies on microphage functions in chronic pyoderma vegetans. 36 70

In five patients with either familial or non-familial type of chronic mucocutaneous candidosis some properties of phagocytic function of the polymorphonuclear leucocytes (PMNL) have been studied in vitro. In each of the patients there were found: a) a decreased chemotactic activity of PMNL, b) a weakness of intake and of intracellular destruction of Candida albicans cells by PMNL, c) an impairment of phagocytosis and intracellular killing of Candida albicans as well of Staphylococcus aureus by PMNL. The rate of phagocytosis of heat-inactivated Candida albicans cells by PMNL was normal in each case. In the serum of two patients a phagocytosis inhibiting factor is supposed to exist. In PMNL of 3 patients a defective activity of NADH-dependent oxidase was found. The occurrence of hereditary CMCC in a father and his two daughters points to an autosomal dominant trait, whereas in most cases of familiar CMCC hitherto described an autosomal recessive mode of transmission was found.
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PMID:[In vitro investigations of microphages function in patients with chronic mucocutaneous candidosis (author's transl)]. 37 41

The function of microphages has been studied in two patients with chronic pyoderma vegetans by in vitro determination of phagocytosis as well as chemotaxis. The results showed a striking decrease in the chemotactic activity of the neutrophil granulocytes, a reduced phagocytosis of Candida albicans and Staphylococcus aureus, and a weakness of the intracellular killing of these microorganisms. However, the NADH-dependent oxidase activity appeared to be intact. No defect was found in the specific cellular or humoral immune system in either patient.
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PMID:In vitro studies on microphage functions in chronic pyoderma vegetans. 39 90

1 (-)Emetine (0.25-2.0 mg/kg i.p.) was administered to rats for up to 220 days. 2 At doses of 1.0 mg/kg or less, the animals continued to gain weight but more slowly than the untreated control animals. The physiological changes in the muscles from these animals were minimal; there was a small reduction in both the resting membrane potential and in the maximum rate of rise of the action potential. There was no atrophy or loss of muscle fibres although in the occasional muscle, hyaline fibres, necrotic fibres and split fibres were observed. There was a focal loss of myofibrillar adenosine triphosphatase (ATPase) and nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR) in Type II and Type III fibres, but no such loss in Type I fibres. 3 The animals receiving 2.0 mg/kg of (-)emetine gained weight slowly for up to 20 days but then rapidly lost weight and by 30 days they were weak and emaciated. The muscles from these animals were severly atrophied and the total muscle wet weight was reduced by almost 20%. 4 The strength of the muscles from these animals was measured in vitro using direct stimulation. They were weaker than normal both in absolute terms and when expressed in terms of tension developed/unit wet weight. 5 There was no evidence of either functional or structural denervation but surgically denervated muscles from animals in this group were indistinguishable from denervated muscles from normal rats. 6 Severe structural damage was obvious in the fibres of both extensor digitorum longus and soleus. Necrotic, hyaline and splitting fibres were common and the focal loss of myofibrillar ATPase and NADH-TR activity was extensive and occurred in Type I fibres as well as in Type II and Type II fibres. 7 It is concluded that the muscular weakness induced by (-)-emetine is due to a direct effect on the muscle fibres and that this occurs at a subcellular level. There is no evidence that functional or structural denervation plays any role in the aetiology of emetine myopathy in the rat.
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PMID:Emetine myopathy in the rat. 127 39

We report an unusual familial myopathy characterized morphologically by the presence of large tubular aggregates in all fibre types. Two patients, a father and daughter, presented with slowly progressive proximal weakness, limitation of eye movement, and Achilles tendon contractures. Serum creatine kinase was 5-10 times normal. Light microscopy revealed type I fibre predominance. Basophilic accumulations, which stained intensely with the NADH-TR reaction, were present in both fibre types. Electron microscopy revealed that these consisted of tightly packed parallel tubular arrays. These varied somewhat in their ultrastructural appearance and were classified accordingly as type I, II, and III tubular structures. The tubular aggregates appear to be derived from the sarcoplasmic reticulum. This report further supports the evidence of a distinct clinico-pathological entity of genetic origin.
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PMID:Dominantly inherited tubular aggregate myopathy. 148 21

The case of a 2-day-old male full-term newborn with myotubular (centronuclear) myopathy is reported. He presented with generalized hypotonia and muscle weakness, swallowing disturbance, and respiratory distress at birth. He had a typical myopathic face, high-arched palate, funnel chest, and mild bilateral ptosis. Deep tendon reflexes were absent. Serum creatine kinase was normal. The histologic examination of the muscle biopsy over the right rectus femoris muscle revealed an increased number of fibers with centrally placed nuclei, type 1 fiber predominance, type 1 fiber atrophy, and a peripheral halo in the sarcoplasm on NADH-TR staining. On electron microscopy, central nuclei were separated by strands of glycogen and mitochondria. His muscle strength showed clinical improvement at a 14-month follow-up. This case illustrates the need for a muscle biopsy and histochemical staining and/or electron microscopic investigation for a proper diagnosis in hypotonic newborns with respiratory distress.
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PMID:Neonatal myotubular myopathy with respiratory distress: report of a case. 168 84

Cylindrical spirals (CS) have been reported in muscle biopsies from five individual cases, as well as in two belonging to one family where there was another affected member, clinically associated with cramps, pain, stiffness and/or weakness. Here we studied muscle biopsies of a 70-yr-old mother and her 52-yr-old son, the latter with an associated neuropathy, both with late clinical onset in whose family at least 10 other members, spanning five generations, were diversely affected by muscular weakness, gait disorders, motor impairment and/or scoliosis, featuring an autosomal dominant trait with variable expression. CS as the main pathological findings were observed by light microscopy mostly in type 2 fibres, consisting of subsarcolemmal or intermyofibrillar granular and/or rod-like clusters, bluish with haematoxylin, bright red with Gomori's modified trichrome, non- or lightly reactive with PAS, faintly coloured with NADH-TR, non-reactive with SDH or ATPase, strongly stained with non-specific esterase and myoadenylate deaminase. Ultrastructurally, CS appeared as concentrically wrapped lamellae 1-2 microns in diameter. On occasion CS merged into tubular vesicular structures strongly resembling tubular aggregates (TA). Dilation of terminal cisternae (TC) in their proximity supports an origin from the sarcoplasmic reticulum (SR). Variable gene expression possibly explains both the highly diverse clinical compromise and time of onset.
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PMID:Autosomal dominant neuromuscular disease with cylindrical spirals. 182 55

The patient, a 52-year-old male, noticed abnormalities on walking at about 20 years of age, followed by slowly progressive muscle weakness of arms and neck. The family history was negative. He showed muscular atrophy and weakness with a preferential involvement of the scapular, arms and peroneal muscles. Deep tendon reflexes were absent. He had a limited range of motion in the spine, but the onset was unclear. Creatine kinase (CK) was elevated (324 IU/L) and the EMG study showed myogenic pattern. Muscle biopsy was obtained from the biceps brachii muscle; on NADH dehydrogenase stain, there was subsarcolemmal increase in the oxidative enzyme activity showing "lobulated fiber" mostly seen in type 1 fibers. On electron-microscopy, the sub-sarcoplasmic areas which had high NADH activity, contained many mitochondria and glycogen particles. However, iodine-glycogen complex spectrum analysis pattern and debranching enzyme activity were normal. CT scan revealed low density in the paravertebral muscles, suggesting degeneration. This is a rare type of scapuloperoneal atrophy different from Emery-Dreifuss syndrome, rigid spine syndrome and FSH type muscular dystrophy.
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PMID:[A case of scapuloperoneal atrophy with rigid spine having lobulated fibers in muscle biopsy]. 191 28

We evaluated a 22-yr-old Swedish man with lifelong exercise intolerance marked by premature exertional muscle fatigue, dyspnea, and cardiac palpitations with superimposed episodes lasting days to weeks of increased muscle fatigability and weakness associated with painful muscle swelling and pigmenturia. Cycle exercise testing revealed low maximal oxygen uptake (12 ml/min per kg; healthy sedentary men = 39 +/- 5) with exaggerated increases in venous lactate and pyruvate in relation to oxygen uptake (VO2) but low lactate/pyruvate ratios in maximal exercise. The severe oxidative limitation was characterized by impaired muscle oxygen extraction indicated by subnormal systemic arteriovenous oxygen difference (a-v O2 diff) in maximal exercise (patient = 4.0 ml/dl, normal men = 16.7 +/- 2.1) despite normal oxygen carrying capacity and Hgb-O2 P50. In contrast maximal oxygen delivery (cardiac output, Q) was high compared to sedentary healthy men (Qmax, patient = 303 ml/min per kg, normal men 238 +/- 36) and the slope of increase in Q relative to VO2 (i.e., delta Q/delta VO2) from rest to exercise was exaggerated (delta Q/delta VO2, patient = 29, normal men = 4.7 +/- 0.6) indicating uncoupling of the normal approximately 1:1 relationship between oxygen delivery and utilization in dynamic exercise. Studies of isolated skeletal muscle mitochondria in our patient revealed markedly impaired succinate oxidation with normal glutamate oxidation implying a metabolic defect at the level of complex II of the mitochondrial respiratory chain. A defect in Complex II in skeletal muscle was confirmed by the finding of deficiency of succinate dehydrogenase as determined histochemically and biochemically. Immunoblot analysis showed low amounts of the 30-kD (iron-sulfur) and 13.5-kD proteins with near normal levels of the 70-kD protein of complex II. Deficiency of succinate dehydrogenase was associated with decreased levels of mitochondrial aconitase assessed enzymatically and immunologically whereas activities of other tricarboxylic acid cycle enzymes were increased compared to normal subjects. The exercise findings are consistent with the hypothesis that this defect impairs muscle oxidative metabolism by limiting the rate of NADH production by the tricarboxylic acid cycle.
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PMID:Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. 191 74

Defects of complex I of the mitochondrial respiratory chain are important causes of neurological disease. We report studies that demonstrate a severe deficiency of complex I activity with less severe abnormalities of complexes III and IV (less than 5, 63, and 30% of control values, respectively) in a skeletal muscle mitochondrial fraction from a 22-yr-old female with weakness, lactic acidemia, and the deposition of intramuscular neutral lipid. The observation that lipid accumulates in this and other patients with complex I deficiency suggests impaired mitochondrial fatty acid oxidation. To investigate this mechanism we have shown impaired flux through beta-oxidation [( U-14C]hexadecanoate oxidation was 66% of control rate) and accumulation of specific acyl-CoA ester intermediates. The changes in fatty acid metabolism in complex I deficiency are secondary to the reduced state within the mitochondrial matrix with low NAD+/NADH ratios.
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PMID:Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria. 215 51


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