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  • 1
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Porphyria cutanea tarda (PCT) is associated in most cases with iron overload, which may participate in decreased activity of uroporphyrinogen decarboxylase in the liver. The aetiology of this iron overload remains unknown; however, it has been demonstrated that mutations of HFE, the genetic haemochromatosis gene, might be present in a significant proportion of Anglo-Saxon and Italian patients. Furthermore, transferrin receptor polymorphism may influence the affinity of this receptor to its ligand with a subsequent increase of cellular iron absorption and storage. Objectives  To evaluate the incidence and spectrum of HFE mutations and the relative frequency of the two main alleles of transferrin receptor in patients with PCT originating from southern France, and to evaluate the relationship of these genetic data with iron status, and with hepatitis B and C and human immunodeficiency virus (HIV) infections. Methods  Thirty-six consecutive patients with either sporadic or familial PCT were prospectively included between 1997 and 2000. Search for the presence of the three main mutations of the HFE gene and identification of the transferrin receptor alleles were performed using polymerase chain reaction followed by enzymatic digestion. Iron parameters and viral status for hepatitis B and C viruses and HIV were determined. Results  Seven patients (19%) showed heterozygous C282Y mutation, but no C282Y homozygote was present; five patients (14%) carried homozygous H63D mutation, while eight (22%) were heterozygous for this mutation. One patient was heterozygous for the S65C mutation (3%). Iron parameters demonstrated overload in all patients, without a clear difference between patients with and without deleterious mutations of the HFE gene. Infection by hepatitis C virus was documented in 20 patients (56%), and was significantly less frequent in patients with deleterious HFE mutations. The profile of transferrin receptor alleles in PCT patients did not show significant variation compared with the general population. Conclusions  This study confirms the high frequency of HFE mutations in patients with PCT and supports the hypothesis that HFE gene abnormalities might play a significant part in the PCT pathomechanism, probably through iron overload; by contrast, transferrin receptor polymorphisms do not appear to play a significant part in iron overload in PCT.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1439-0523
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Agriculture, Forestry, Horticulture, Fishery, Domestic Science, Nutrition
    Notes: In order to shorten generation cycles, a greenhouse strategy was used as control and compared with an in vitro plus in vivo strategy for pea and bambara groundnut, as well as to an in vitro only strategy for pea and grass pea. Using an in vitro plus in vivo system and embryo axis explants, nearly six generations per year for Pisum and over four generations for Vigna were obtained, compared with two generations in the field. Using successive generations from seed to seed in pea, the mean duration for one generation was 67.2 ± 4.6 days in ‘Frisson’, against a mean of 143 ± 3 days in the field. With the in vitro only strategy in pea, 6.87 generations per year were obtained with ‘Frisson’ and 5.24 with ‘Terese’, while with grass pea genotypes over three generations per year were possible. All plants obtained were morphologically normal and fertile. These results show the feasibility of using such strategies to reduce significantly the duration of generation cycles in legumes, thus offering novel approaches for breeding these important crops.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1084
    Keywords: Portal hypertension ; Hepatoportal fistula ; Arterial embolization ; Pulsed Doppler
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the case of a posttraumatic arteriovenous fistula between the right hepatic artery and the right portal vein remarkable in that clinical manifestations, including portal hypertension and mesenteric insufficiency findings, appeared latently and progressively worsened. This hepatoportal fistula was diagnosed by Doppler sonography and successfully treated by transcatheter embolization of feeding hepatic artery branch with steel coils. We emphasize the interest of pulsed Doppler in the diagnosis of hepatoportal fistula, in assessment of hemodynamic changes related to the fistula, and in follow-up after treatment.
    Type of Medium: Electronic Resource
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