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  • Electronic Resource  (2)
  • 21-hydroxylase deficiency  (1)
  • Lateral hypothalamic area  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Prenatal DNA analysis in four embryos/fetuses at risk of 21-hydroxylase deficiency (1988)
    Springer
    European journal of pediatrics 148 (1988), S. 228-232 
    Details
    ISSN: 1432-1076
    Keywords: Prenatal diagnosis ; 21-hydroxylase deficiency ; DNA analysis ; HLA typing ; Chorionic villus
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Prentatal diagnosis of 21-hydroxylase deficiency (21-OHD) in two unrelated embryos and two fetuses was attempted with the Southern hybridization method using the 21-hydroxylase (21-OHase) complementary DNA as a probe. The two embryos whose genomic DNA was extracted from their chorionic vili both had four TaqI fragments (3.7 kb, 3.2 kb, 2.4 kb and 2.3 kb) identical to those of their respective parents and normal controls, while the DNA from each proband of these two families lacked with the 3.7 kb and the 2.3 kb fragments corresponding to the functional 21-OHase gene (21-OHase B gene). These findings indicated that none of the embryos examined were deletion homozygotes for the 21-OHase B gene. In the two fetuses, only amniotic fluid cells were available for prenatal diagnosis. The results of Southern hybridization analysis were uninformative since all family members, including the probands and fetuses, had all four TaqI fragments. Linkage studies between 21-OHD and human leukocyte antigen (HLA) haplotypes and those between the disease and restriction fragment length polymorphisms of the 4th complement gene revealed that the fetus of one family was normal. The other fetus could not be diagnosed because a recombination between the class I HLA and the 21-OHD loci had occurred in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441409
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Recognition of deficient nutrient intake in the brain of rat withl-lysine deficiency monitored by functional magnetic resonance imaging, electrophysiologically and behaviorally (1996)
    Springer
    Amino acids 10 (1996), S. 73-81 
    Details
    ISSN: 1438-2199
    Keywords: Amino acids ; Brain recognition ; Functional MRI ; Lateral hypothalamic area ; l-Lysine deficiency ; Neural plasticity ; Preference and appetite control
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Eachl-amino acid (AA) in plasma and brain remains unchanged all day long while normal diet is available. But once restriction ofl-lysine (Lys) was introduced, strong anorexia happened. When Lys deficient diet was offered to rats, their growth were decreased depending upon dietary Lys intake, and they ingested Lys solution in choice quantitatively and both appetite and growth normalized. The recognition site for the deficit in rat's brain was identified by brain oxygenation using a functional MRI that higher signals in the ventromedial hypothalamus and lateral hypothalamic area (LHA) appeared, at 30–50 minutes after Lys injection i.p. and then recovered. Degree of Lys hunger, assayed by bar-pressing (50mg pellet of normal diet/30 presses), was suppressed by Lys micro-injection into the LHA, similar to free Lys ingestion but any other AA never did, suggesting the LHA as recognition site for Lys deficit in rats with Lys deficiency due to AA homeostasis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00806094
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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