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  • 1
    Electronic Resource
    Electronic Resource
    Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA^L^e^u^(^U^U^R^)]
    Amsterdam : Elsevier
    FEBS Letters 286 (1991), S. 67-70 
    Details
    ISSN: 0014-5793
    Keywords: Encephalopathy ; MELAS ; Mitochondrial DNA mutation ; Myopathy ; Respiratory chain
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0014-5793(91)80942-V
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  • 2
    Electronic Resource
    Electronic Resource
    Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNA^L^e^u^(^U^U^R^) gene
    Amsterdam : Elsevier
    FEBS Letters 321 (1993), S. 194-196 
    Details
    ISSN: 0014-5793
    Keywords: Cardiomyopathy ; Deafness ; Diabetes ; MELAS ; mtDNA mutation
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0014-5793(93)80106-5
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  • 3
    Electronic Resource
    Electronic Resource
    Thrombocytopenia induced by erucic acid therapy in patients with X-linked adrenoleukodystrophy (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 802-805 
    Details
    ISSN: 1432-1440
    Keywords: Adrenoleukodystrophy ; Adrenomyeloneuropathy ; Thrombocytopenia ; Erucic acid ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Five patients with various clinical and genetic phenotypes of adrenoleukodystrophy were treated with a diet enriched with glycerol trioleate and glycerol trierucate (GTE). In all patients platelet counts decreased upon the administration of GTE, but no bleeding symptoms occurred in any of the patients, and bleeding time remained normal. Pseudothrombocytopenia was excluded in all patients. Thrombocytopenia was marked (84000–37000/mm) in three of the patients but was fully reversible after discontinuation of GTE. Mean platelet volumes were abnormally increased in all patients. When GTE was again administered by stepwise increasing the daily dose, platelet counts showed a clearly dose-dependent decrease. Bone marrow biopsies revealed no evidence of reduced megakaryocytopoiesis. The data indicate that in patients with adrenoleukodystrophy treated with GTE platelet counts should be closely monitored because thrombocytopenia may limit the maximal daily intake of GTE.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00190322
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  • 4
    Electronic Resource
    Electronic Resource
    Positive correlation between aortic valve pressure gradient and mitochondrial respiratory chain capacity in hypertrophied human left ventricle (1992)
    Springer
    Journal of molecular medicine 70 (1992), S. 896-901 
    Details
    ISSN: 1432-1440
    Keywords: Mitochondria ; Respiratory chain ; Coenzyme Q ; Left ventricular hypertrophy ; Aortic valve stenosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The effect of chronic left ventricular pressure overload on the activities of mitochondrial respiratory chain enzymes was investigated in myocardial biopsies from the left ventricular apex of 13 patients undergoing aortic valve replacement for aortic valve stenosis. Transvalvular pressure gradients measured by left-sided heart catheterization ranged from 52 to 100 mmHg. The specific activity of mitochondrial respiratory chain enzyme complexes I + III (antimycin A sensitive NADH cytochrome c oxidoreductase) and the myocardial concentrations of coenzyme Q10 (CoQ10) increased significantly (P 〈 0.05) with increasing aortic valve pressure gradient. In contrast, the specific activities of complex IV (cytochrome c oxidase), succinate dehydrogenase, and citrate synthase, a mitochondrial matrix enzyme, showed no significant correlation with the pressure gradient. Since (CoQ10) is the rate-limiting compound of the activity of complexes 1+111 but not of cytochrome c oxidase, succinate dehydrogenase, or citrate synthase, these data suggest that the increase in the activity of complexes I+III is due to the increase in (CoQ10) content.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00180435
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  • 5
    Electronic Resource
    Electronic Resource
    Limited trypsin proteolysis renders carnitine palmitoyltransferase insensitive to inhibition by malonyl-CoA in patients with muscle carnitine palmitoyltransferase deficiency (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 957-960 
    Details
    ISSN: 1432-1440
    Keywords: Carnitine palmitoyltransferase ; Malonyl-CoA ; Tween 20 ; Trypsin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Carnitine palmitoyltransferase (CPT) was studied in muscle homogenates of two patients with muscle CPT deficiency heterozygous for the Ser-113 Leu mutation in the CPT 11 gene. Total CPT activity was normal in both patients but was almost completely inhibited by malonyl-CoA and Triton X-100 whereas in controls 38% and 58% of total activity remained in the presence of malonyl-CoA and Triton X-100, respectively. The addition of 1 % Tween 20 abolished about half of the activity in patients but not in controls. Preincubation of muscle homogenate with trypsin slightly increased the total activity and rendered the activity greatly insensitive to inhibition by malonyl-CoA in both patients and controls. The data support the view that in patients with muscle CPT deficieny both CPT I and II are active, but that CPT II is abnormally accessible to inhibition by malonyl-CoA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00577735
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  • 6
    Electronic Resource
    Electronic Resource
    Inhibition of carnitine palmitoyltransferase in normal human skeletal muscle and in muscle of patients with carnitine palmitoyltransferase deficiency by long- and short-chain acylcarnitine and acyl-coenzyme A (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 763-769 
    Details
    ISSN: 1432-1440
    Keywords: Carnitine palmitoyltransferase deficiency ; Metabolic myopathy ; Acetyl-coenzyme A ; Acetylcarnitine ; Palmitoyl-coenzyme A ; Palmitoylcarnitine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The inhibition of total carnitine palmitoyltransferase (CPT) by short- and long-chain acylcarnitine and acyl-coenzyme A (acyl-CoA) was studied in muscle homogenates of normal controls and of five new patients with CPT deficiency using the isotope forward assay. Acetylcarnitine inhibited neither normal CPT activity nor the CPT of patients. d,l-Palmitoylcarnitine almost completely inhibited CPT in patients but only 55% of normal activity. In controls the CPT fraction sensitive to inhibition by palmitoylcarnitine appeared to be identical with the fraction sensitive to inhibition by malonyl-CoA and succinyl-CoA, which probably represents CPT II. The abnormal inhibition of CPT by palmitoylcarnitine was more likely due to product inhibition than to a detergent effect. Acetyl-CoA concentrations up to 0.4 mM and palmitoyl-CoA above optimal substrate concentrations up to 0.3 mM both inhibited normal CPT by about 25%, whereas the CPT of patients was significantly more inhibited by both substances than was normal CPT. The inhibition by acetyl-CoA was probably due to the structural relationship with malonyl-CoA and succinyl-CoA. The abnormal inhibition of CPT in patients by palmitoyl-CoA was due either to an abnormal substrate inhibition or to a detergent effect on CPT II similar to that of Triton X-100. The data indicate that in CPT deficiency total CPT activity is normal under optimal assay conditions. CPT II, however, is abnormally inhibited by fatty acid metabolites that accumulate during fasting.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00190315
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  • 7
    Electronic Resource
    Electronic Resource
    Inclusion body myositis : clinical and histopathological features of 36 patients (1993)
    Springer
    Journal of molecular medicine 71 (1993), S. 351-361 
    Details
    ISSN: 1432-1440
    Keywords: Inflammatory myopathies ; Inclusion body myositis ; Rimmed vacuoles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Thirty-six patients (15 females, 21 males) with inclusion body myositis (IBM) were studied. The diagnosis was established according to clinical and histopathological criteria. Clinical features were insidious onset of slowly progressive muscle weakness and wasting with depressed or absent tendon reflexes especially in the lower limbs. The pattern of muscle weakness was variable. The majority of patients (58%) showed proximal and symmetrical weakness usually most prominent in the legs. Isolated distal (6%) and asymmetrical weakness (19%) was less frequently observed. Myalgia occurred in 42% of the patients. The age at onset of symptoms ranged from 20 to 73 years (mean 47 years). Serum creatine kinase levels were normal (11%) or mildly elevated (89%). Needle electromyography revealed myopathic features in about 80% of the patients, and results of nerve conduction studies were normal in most of the cases. The predominant histopathological findings were numerous muscle fibers with rimmed vacuoles (100% of the patients), groups of atrophic fibers (92%), and inflammatory infiltrates (89%). The inflammatory infiltrates were located predominantly at endomysial sites and were composed mainly of T8 cells. Electron microscopy showed characteristic intracytoplasmic filamentous inclusions in all 36 cases. Immunosuppressive treatment in 16 patients failed to prevent disease progression in all but one patient with an associated Sjögren's syndrome. It is concluded that the consistent combination of typical histopathological findings and characteristic clinical features offers a firm basis for the diagnosis of IBM. IBM should be suspected in any adult patient presenting with clinical signs of a chronic polymyositis unresponsive to immunosuppressive therapy. The etiology and pathogenesis of IBM remain to be established.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00186623
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  • 8
    Electronic Resource
    Electronic Resource
    Biochemical evidence for heterozygosity in muscular carnitine palmitoyltransferase deficiency (1993)
    Springer
    Journal of molecular medicine 72 (1993), S. 77-83 
    Details
    ISSN: 1432-1440
    Keywords: Carnitine palmitoyltransferase ; Metabolic myopathy ; Malonyl-CoA ; Triton X-100 ; Tween 20
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Carnitine palmitoyltransferase (CPT) was studied in muscle homogenates of four patients with recurrent attacks of rhabdomyolysis due to muscular CPT deficiency and in those of the clinically asymptomatic father and mother of two patients. In controls CPT II was readily solubilized by the addition of Triton X-100 and 1% Tween 20. In contrast, CPT I was inactivated by Triton X-100 but remained catalytically active and membrane bound in the presence of 1% Tween 20. Total CPT activity was normal in patients and in both parents when measured under optimal assay conditions. After addition of 1% Tween 20 the insoluble CPT activity was also normal in patients and in both parents. The soluble CPT activity, however, was almost completely lost in patients but was only partially decreased in both parents. The data indicate that in patients an enzymatically active CPT II exists which is abnormally sensitive to inhibition by Tween 20, and that CPT I activity is not compensatorily increased in patients. A partial CPT II deficiency can be identified in heterozygotes most sensitively by the separate determination of soluble and insoluble CPT activities in the presence of 1% Tween 20.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00231124
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  • 9
    Electronic Resource
    Electronic Resource
    Cauda equina syndrome with multiple lumbar diverticula complicating long-standing ankylosing spondylitis (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 1056-1059 
    Details
    ISSN: 1432-1440
    Keywords: Ankylosing spondylitis ; Bechterew's disease ; Cauda equina syndrome ; Lumbar diverticula
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with cauda equina syndrome complicating long-standing inactive ankylosing spondylitis is described. The first neurological symptoms started 15 years after the onset of ankylosing spondylitis. Over a follow-up period of 12 years the cauda equina syndrome showed a slowly progressive but disabling course leading to sensory disturbances in the lumbar and sacral dermatomes, weakness and wasting of the muscles innervated by these nerve roots, sphincter disturbances, and impotence. Magnetic resonance imaging, computed tomography, and lumbar myelography showed enlargement of the dural sac with multiple lubar diverticula eroding the lumbosacral vertebrae. The pathophysiology of the cauda equina syndrome in ankylosing spondylits is unclear. Surgical treatment seems justified only in patients with a short history of neurological symptoms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00577755
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  • 10
    Electronic Resource
    Electronic Resource
    Two cases of neurologigal manifestations in eosinophilia: variations of one disease? (1994)
    Springer
    Journal of molecular medicine 72 (1994), S. 1060-1064 
    Details
    ISSN: 1432-1440
    Keywords: Hypereosinophilic syndrome ; Eosinophilic fasciitis ; Polyneuropathy ; Eosinophiliamyalgia syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The hypereosinophilic syndrome is characterized by a long-lasting increase in circulating eosinophils in the absence of a definable etiology and by manifestations of multisystem involvement. It must be differentiated from the eosinophiliamyalgia syndrome related to the ingestion of L-tryptophan, although the clinical features may be similar. Two patients with hypereosinophilia not related to L-tryptophan intake are described who both became clinically symptomatic with neurological manifestations of acute and subacute onset: one with eosinophilic fasciitis and the other with painful polyneuropathy. Both responded well to corticosteroids.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00577756
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