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  • 1990-1994  (5)
  • 1990  (5)
  • Familial adenomatous polyposis  (4)
  • dysplasia
  • 1
    Electronic Resource
    Electronic Resource
    Spontaneous mutation in familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 52-55 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Spontaneous mutation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A retrospective review of the familial adenomatous polyposis registry at the Cleveland Clinic Foundation revealed an incidence of spontaneous mutation in familial adenomatous polyposis (FAP) of 22 percent of family kindreds. These patients were reviewed retrospectively and compared with the total FAP population followed at The Cleveland Clinic Foundation with respect to the onset of disease, the incidence of carcinoma in the resected colon, and incidence of extracolonic manifestations. Review of the characteristics and presentations of these patients suggested that these individuals may harbor a more severe form of FAP. This may be due, in part, to the delay in diagnosis and, therefore, a higher rate of development of colorectal carcinoma and possibly duodenal adenomas. There is also a demonstrable higher rate of extracolonic manifestations of FAP present in this subset of patients. When selecting the initial type of prophylactic colonic resection the surgeon should bear in mind the increased incidence of extracolonic manifestations of the disease in this group of patients and their potential for complications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02053203
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Predictive value of congenital hypertrophy of the retinal pigment epithelium as a clinical marker for familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 1003-1008 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Congenital hypertrophy ; Retinal pigment epithelium ; Extracolonic manifestations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One hundred forty-eight members of 53 kindreds with familial adenomatous polyposis (FAP) were examined for congenital hypertrophy of the retinal pigment epithelium (CHRPE) and extracolonic manifestations (ECM) to assess the value of CHRPE as a predictive marker for FAP. Based on eye examination results, the families were divided into 2 groups. In a first group of 34 families, all 61 members diagnosed as having polyps and 13 of the 33 patients at risk had 4 or more lesions distributed in both eyes. By contrast, in a second group of 18 families, all 32 polyposis patients and all 18 members at risk had less than 4 lesions. Extracolonic manifestations were present in 26 of 34 families in the first group and in 11 of 18 families in the second group. Data on one family with ambiguous ancestry were reviewed separately. The existence of 4 or more CHRPE lesions distributed in both eyes seems to be a congenital marker for FAP, present in 65.4 percent of families. When present in a family: 1) it is found in all diagnosed patients in that family, 2) can therefore be considered predictive for the development of polyps in other family members who carry the trait, and 3) if confirmed by longer follow-up, may possibly preclude members without the trait from further evaluation and surveillance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02139213
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    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Mortality in patients with familial adenomatous polyposis (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 639-642 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Colorectal carcinoma ; Desmoid tumors ; Periampullary carcinoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The authors identified 132 patients who died with a documented diagnosis of familial adenomatous polyposis (FAP). A review of the medical records, autopsy reports, and in-depth discussion with local physicians and well-informed family members was performed. It was impossible, even after the review, to ascertain the exact cause of death in 22 patients. In the remaining patients, the cause of death was as follows: metastatic colorectal carcinoma, 64 patients (58.2 percent), (colon, 49 [44.5 percent], rectal, 15 [13.6 percent]); desmoid tumors, 12 (10.9 percent); periampullary carcinoma, 9 (8.2 percent); brain tumors, 8 (7.3 percent); perioperative mortalities, 5 (4.5 percent); adrenal carcinoma, 1 (0.9 percent); and abdominal carcinomatosis, 1 (0.9 percent). Ten patients died of causes not related to FAP. The major causes of death in 36 patients who underwent prophylactic colectomy were desmoid tumor and periampullary malignancy. This finding underscores the importance of lifelong surveillance and periodic endoscopic evaluation in patients with FAP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02150736
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Evaluation of polymorphic genetic markers for linkage to the familial adenomatous polyposis locus on chromosome 5 (1990)
    Springer
    Diseases of the colon & rectum 33 (1990), S. 740-744 
    Details
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Restriction fragment length polymorphism ; Chromosome 5q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A gene associated with the inherited syndrome, familial adenomatous polyposis (FAP), has been localized to the long arm of chromosome 5 near the 5q21-22 region, and markers that identify genetic polymorphisms near this locus are now available. The authors evaluated several of these markers for linkage to the FAP trait in 11 families entered in the Cleveland Clinic Polyposis Registry. The original probe that established linkage to the FAP locus (C11p11) has limited utility for family studies because of low heterozygosity and distance from the FAP gene. Other probes, however, should be useful for assessing FAP inheritance by restriction fragment length polymorphism analysis, for presymptomatic diagnosis of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02052318
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Dysplasia and cancer complicating strictures in ulcerative colitis (1990)
    Springer
    Digestive diseases and sciences 35 (1990), S. 349-352 
    Details
    ISSN: 1573-2568
    Keywords: ulcerative colitis ; strictures ; dysplasia ; cancer
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Previous studies have found a widely variable prevalence of dysplasia and cancer in colonic strictures in patients with ulcerative colitis. Consequently, therapeutic recommendations are conflicting. To better assess the prevalence, we reviewed the clinical and pathological findings in all 27 patients with ulcerative colitis complicated by stricture who were entered into our Inflammatory Bowel Disease Registry. A true stricture was defined as a persistant localized narrowing of the colon found on air-contrast barium enema or on colonoscopy. Upon careful review, 12 of 27 patients were found to have transient colonic spasm, not a stricture, and were excluded. The remaining 15 patients with true strictures represented 3.2% of all ulcerative colitis patients in the registry. Strictures were identified at 13.3± 9.9 years following the diagnosis of ulcerative colitis. Eleven patients had multiple strictures that were principally located in the left colon. Of the 15 patients, 11 had dysplasia and two had cancer found on colonoscopic biopsy. Ultimately, six patients had carcinoma found at colonoscopy or colectomy (three modified Dukes' stage A, one stage B, and two stage D). All cancers were at the site of a stricture. These findings indicate that a true colonic stricture in ulcerative colitis is frequently associated with dysplasia and cancer, which can be diagnosed with colonoscopic biopsy. A stricture should be considered a strong risk factor for cancer, requiring intensive colonscopic surveillance. If dysplasia is discovered, or if the stricture cannot be adequately biopsied, consideration should be given to total colectomy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01537413
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    Paper (German National Licenses)
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