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  • 11
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Eleven families with X-linked dominant hypophosphataemic rickets (HPDR) have been typed for a series of X chromosome markers. Linkage with probe 99.6 (DXS41) was demonstrated with a peak lod score of 4.82 at 10% recombination. Multilocus linkage analysis showed that HPDR maps distal to 99.6; this probe has previously been located at Xp22.31-p21.3 by in situ hybridisation. In the mouse hypophosphataemia (Hyp) maps to the distal part of the X chromosome; our location in man is consistent with a scheme which relates the mouse and human X chromosomes by two rearrangements. No marker has yet been found which shows no recombination with HPDR.
    Type of Medium: Electronic Resource
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  • 12
    Electronic Resource
    Electronic Resource
    Springer
    Diseases of the colon & rectum 34 (1991), S. 865-869 
    ISSN: 1530-0358
    Keywords: Radiation ; Rectal injury ; Coloanal anastomosis ; Lasers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The management of 14 cases of radiation injury to the intestinal tract over a 4-year period is evaluated. The longest latent interval between radiation treatment and symptoms was 30 years. Eight patients were treated surgically; six were treated conservatively by laser therapy or application of formalin to the affected mucosa. The indications for surgery were rectovaginal fistula (four), rectal stricture (one), radiation proctitis (eight), and small bowel obstruction (one). Seven patients underwent large bowel resection. These consisted of four anastomoses with coloanal J-reservoirs, two low anterior resections, and one coloanal anastomosis without reservoir. There was no perioperative mortality. Morbidity occurred in one of the eight surgical cases. Radical resection of the radiation-damaged rectum has been shown to be a safe and reliable treatment for rectovaginal fistulas, rectal strictures, and proctitis unresponsive to medical measures. Coloanal J-reservoir is the procedure of choice to avoid urgency and frequency symptoms associated with coloanal sleeve anastomosis. Laser therapy for hemorrhagic proctitis can achieve an important place in the management of this problem without recourse to surgery.
    Type of Medium: Electronic Resource
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