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  • 1
    ISSN: 1432-1076
    Keywords: Infantile Refsum disease ; Phytanic acid ; Dietary treatment ; Peroxisomes ; Ultrastructure
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two patients with infantile phytanic acid storage disease (infantile Refsum disease), one of whom showed the presence of morphologically normal peroxisomes in a liver biopsy, were treated with a low phytanic acid diet for more than 2 years and the effects of treatment on certain clinical, biochemical and ultrastructural parameters were examined. Both patients showed evidence of either an improvement or stabilisation in their clinical condition. Plasma phytanic acid levels decreased to near normal values in approximately 6 weeks after the introduction of the diet; plasma pipecolic acid also declined markedly but the decrease was not so rapid and its level remained abnormal. C26∶C22 fatty acid ratios decreased very slowly and even after 2 years the values remained grossly abnormal. Despite the marked reduction of phytanic acid in the liver, there was an increase in the C26∶C22 fatty acid ratios and this appeared to be paralleled by an increase in inclusion bodies. Our data suggest that some patients with the infantile form of Refsum disease may show some clinical benefit from dietary management and this is reflected biochemically by decreases in the plasma levels of phytanic acid and pipecolic acid.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Pristanic acid ; Phytanic acid ; Peroxisome ; β-oxidation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its α-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the α-oxidation of phytanic acid, but is indicative of a block in the peroxisomal β-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Zellweger syndrome ; Prenatal diagnosis ; Phytanic acid ; Amniocytes ; Chorionic villous cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Plant breeding 99 (1987), S. 0 
    ISSN: 1439-0523
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: Early generation yield trials of families from a set of winter wheat crosses were grown in three contrasting environments chosen to represent differences in two important macro-environmental variables affecting the wheat, crop in Eastern England. Joint selection for high yield and low sensitivity to these macro-environmental variables over two seasons using the procedure of Brumpton et al. (1977) resulted in a group of genotypes which exhibited a much wider yield range than would have resulted from selecting for yield in each -environment separately. In spite of this, the top performing lines an yield trials grown in each of the environments during the next season exhibited good yield and stability over all three environments, demonstrating the feasibility of such a method for winter wheat breeding.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Biochemistry 55 (1986), S. 1119-1150 
    ISSN: 0066-4154
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Chemistry and Pharmacology , Biology
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 469 (1986), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford [u.a.] : International Union of Crystallography (IUCr)
    Acta crystallographica 44 (1988), S. 439-443 
    ISSN: 1600-5759
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0428
    Keywords: IRI ; Type 2 diabetes ; Asian Indians ; Europeans ; ethnic variation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The serum immunoreactive insulin response to an oral glucose load was estimated in 15 Asian Indian and 29 European non-diabetic subjects, and in 45 Asian Indian and 72 European Type 2 (non-insulin-dependent) diabetic patients. In the non-diabetic group, basal insulin values were higher in the Asian Indians than the Europeans (16.7 ± 3.0 vs. 6.9 ± 0.7 mU/l, p 〈 0.001), and remained higher throughout the glucose tolerance test. Total insulin response was also higher in the Asian Indians (p 〈 0.001), and linear regression analysis revealed basal insulin, body mass index and race to be important predictors of insulin response. Amongst the diabetic patients, basal insulin values were again higher in the Asian Indians compared with the Europeans (18.0±5.0 vs. 11.5±0.9 mU/l, p〈0.05). Total insulin response was also greater (p 〈 0.01). Linear regression analysis revealed the basal insulin value to be the only significant predictor of insulin response. The results demonstrate higher insulin levels in Asian Indians than Europeans in both normal subjects and Type 2 diabetic subjects. The insulin response to a glucose load is also greater in the Asian Indians. In the control subjects, ethnic differences contribute to this response, whereas in the diabetic patients this is a function of the elevated basal insulin values of the Asian Indians.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-0428
    Keywords: Pituitary ablation ; yttrium-90 ; renal function ; survival ; proliferative retinopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Between 1960 and 1976 117 patients underwent pituitary implantation with yttrium-90 (90Y) for treatment of proliferative retinopathy at the Hammersmith Hospital, London. Mean age at operation was 35±11 years (mean±SD), and mean duration of diabetes 18.6±10.0 years. Mean insulin dosage prior to implant was 67.2±24 units, falling to 30.4±14.9 units post-implant. Thirty-two per cent of patients are still living, 60% are deceased and 8% are lost to follow-up. The 5-year survival rate was 82%. Of the causes of death, 21% died of infection, adrenal insufficiency or hypoglycaemia, 12% of renal failure, and 47% of myocardial or cerebral vascular disease. Ophthalmological follow-up was carried out on the 100 patients operated on between 1965 and 1976. The mean age of this group at implant was 35±10.5 years, and mean duration of diabetes 17.2±8.7 years. Visual acuity in the better eye at operation was 6/12 or better in 84% of patients, and this percentage remained similar at the time of the 5 and 10 year follow-up. Blindness (6/60 or worse) in both eyes was present in 12% of patients at the time of 5 and 10 year assessments. By 5 years new vessels on the disc had improved from a mean grading of 2.7±1.6 to 0.8±1.2 (p〈0.001), and by 10 years there was no disc neovascularisation in any eye. There was a similar improvement in the grading of hard exudates, microaneurysms and haemorrhages, but there was an increase in fibrous retinitis proliferans. It is concluded that pituitary ablation was an effective method of treating proliferative retinopathy, and may have had a beneficial effect on other microvascular complications.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Cerebro-hepato-renal (Zellweger) syndrome, adrenoleukodystrophy, and Refsum's disease patients can be divided into at least five distinct groups, according to the nature of their plasma changes and their fibroblast phytanic acid oxidase activities. The biochemical changes in the plasma vary from an increase in a single metabolite or group of structurally related metabolites, such as in X-linked adrenoleukodystrophy (ALD) and classical Refsum's disease, to an increase in a number of structurally distinct metabolites, as in neonatal ALD/Zellweger syndrome, and infantile Refsum's disease. All patients, with the exception of those with the X-linked form of adrenoleukodystrophy are deficient in phytanic acid oxidase activity. The great similarity observed in neonatal adrenoleukodystrophy/Zellweger syndrome and infantile Refsum's disease suggests that the basic biochemical lesion in each may be similar or at least closely related.
    Type of Medium: Electronic Resource
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