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  • 1
    ISSN: 1432-0428
    Keywords: Type 1 (insulin-dependent) diabetes ; HLA-types ; heterogeneity ; age at onset ; sex ; genetic susceptibility ; extended haplotypes ; C4 ; Bf complement components — DRβ ; DQβ ; DNA polymorphism ; restriction fragment length polymorphism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Heterogeneity between two haplotypes in linkage disequilibrium with DR3: B8, C4AQOB1,BfS,DR3 and B18,C4A3BQO,BfF1,DR3, with regard to age at onset of Type 1 (insulin-dependent) diabetes mellitus, was investigated in 325 unrelated French patients (146 males and 179 females, age at onset 1 month to 29 years) who were genotyped for HLA-A, B, C, DR and Bf and 225 of whom were typed for the C4A, B complement components. A subgroup of 82 patients and 75 control subjects were tested for DRβ and DQβ DNA restriction fragment length polymorphism. The distribution according to age at onset and the mean ages at onset were compared between patients bearing B8, DR3 (n=58), B18,DR3 (n=62) or other DR3 haplotypes (Bx, DR3, n=70), the haplotype segments C4AQOB1.DR3 (n=41) or C4A3BQO,DR3 (n = 52) and the C4 null alleles C4AQO (N=48) or C4BQO (n=112) alone. The B8,DR3 haplotype, its smaller segment C4AQOB1,DR3 or C4AQO alone were associated with age at onset after 6 years (p〈0.01, 〈0.08 and 〈0.02 respectively); on the other hand, the B18,DR3 haplotype, its segment C4A3BQO,DR3 or C4BQO alone were significantly more frequent in patients aged less than 6 years at onset (p〈0.02, 〈0.01 and 〈0.01 respectively). Accordingly, the mean age of onset was significantly lower in the latter compared with the former patiens (p〈0.02, 〈0.02 and 〈0.01 respectively). No age-related variation was observed in BX,DR3 patients and their mean age of onset was intermediate. The observed age distributions were sex dependent: that of C4AQO was mainly observed in males, that of C4BQO in females. Restriction fragment length polymorphism analysis in 37 patients and 32 control subjects positive for DR3 showed distinct patterns which correlated with DR3 and/or DQW2 borne by the B8 (n=11) and the B18 (n=18) haplotypes, respectively. BX,DR3 subjects exhibited either one or the other of these patterns. In the patients, the B18 associated fragments were found in most cases; whereas the B8 associated pattern was more frequent in the control subjects. These results provide evidence that a heterogeneous genetic background associated with two subsets of DR3 and/or silent alleles of the fourth component of complement could account for differences in the clinical expression of Type 1 diabetes.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Surgical and radiologic anatomy 10 (1988), S. 201-209 
    ISSN: 1279-8517
    Keywords: Filum terminale ; Spinal cord angio graphy ; Cauda equina ; Arteriovenous malformation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé La vascularisation artérielle et veineuse du filum terminale intradural a été étudiée sur 18 cadavres frais, sous microscope, après prélèvement en monobloc de la moelle épinière dorso-lombaire, des racines et du filum dans leur étui dural. L'examen des artères a été fait après injection manuelle de l'artère du renflement lombaire, tandis que l'étude des veines s'est faite sans injection compte tenu d'une coloration bleu-noir spontanée qui les rendent aisément identifiables. Après étude macroscopique, chaque pièce a été fixée, puis coupée à 12 niveaux différents depuis le cône médullaire jusqu'au fond du cul-de-sac dure-mérien, pour étude histologique. La distribution de la vascularisation du FT apparaît constante. Une artère unique, l'artère du FT, naît de la terminaison de l'axe spinal antérieur, soit par trifurcation, soit de la partie proximale d'une des 2 branches de l'anse anastomotique du cône. L'artère chemine devant le FT; son calibre diminue rapidement; rarement, elle a pu être suivie jusque dans le canal sacré. Une veine, la veine du FT, chemine en avant du FT mais en arrière de l'artère, comme au niveau médullaire. Son calibre est uniforme mais variable d'un sujet à l'autre. Elle traverse la dure-mère en bas; elle se continue avec la veine spinale antérieure en haut. Aucun vaisseau n'a été retrouvé à la face dorsale du FT. Si l'artère du FT a un calibre qui est proportionnel à celui du filum et apparaît comme un vaisseau nourricier, la veine a un calibre sans aucun rapport avec le volume de celui-ci et apparaît davantage comme une voie de drainage intradural en continuité avec la veine spinale antérieure. Quelques cas de pathologie du FT confirment cet aspect anatomique et montrent aussi qu'en raison de l'hyperpression veineuse régnant dans la veine du FT, la veine spinale postérieure participe également au drainage de celle-ci et que l'ensemble peut fonctionner dans les 2 sens ascendant ou descendant.
    Notes: Summary The arterial and venous blood-supply of the intradural filum terminale was studied microscopically in 18 fresh cadavers after removing the dorsolumbar spinal cord in one piece, with the roots and the filum in their dural sheath. The arteries were examined after manual injection of the artery of the lumbar enlargement, while study of the veins was made without injection since their bluish-black color made them easily identifiable. After gross examination, each specimen was fixed and then sectioned at 12 different levels from the medullary conus to the bottom of the dural sac for histologic study. The distribution of the vascularization the filum terminale appeared constant. A single artery, the artery of the filum, arises from the termination of the anterior spinal axis, either by trifurcation or from the proximal part of one of the 2 branches of the anastomotic ansa of the conus. The artery travels in front of the filum, with rapidly diminishing caliber; rarely, it can be followed into the sacral canal. The vein of the filum travels in front of that structure but behind the artery, as in the cord; its caliber is uniform but varies from subject to subject. It traverses the dura below and continuous with the anterior spinal vein above. No vessels were found on the dorsal aspect of the filum. While the artery of the filum is of a caliber proportional to that of the filum and appears to be a nutrient vessel, the vein has a caliber unrelated to that of the filum and appears rather as an intradural drainage route continuous with the anterior spinal vein. Several cases of disease of the filum terminale confirm this anatomic appearance and also show that, because of the existing hyperpressure in the vein of the filum, the posterior spinal vein also shares in the drainage of the latter and that entire system may function in both ascending and descending directions.
    Type of Medium: Electronic Resource
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