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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Immunogenetics 7 (1978), S. 185-200 
    ISSN: 1432-1211
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The characteristics of a strong mouse alloantigen with renal, bone marrow, and lymphoid expression were studied. This antigen is probably identical to that currently designated Ly-6.2. It was defined by the high-titered (1:1000) cytotoxic activity of three different antisera against peripheral lymphocyte target cells from DBA/2, DBA/1, and a variety of other strains. In the F2 and four backcross generations the genetic control of this specificity segregated as a single autosomal dominant gene. In lymphoid tissues the predominant expression was on T cells but 10–30% of B cells were lysed by these antisera. The specificity was expressed strongly in kidney, as shown by sequential absorption, in amounts equal to or greater than the amount in lymphoid tissues. Comparison to the rate of absorption of H-2 by kidney indicated that this antigen may be expressed in amounts comparable to an H-2 antigen in kidney. Immunization with kidney tissue resulted in a strong cytotoxic antibody response. The number of bone marrow cells expressing this antigen (40–50%) was well beyond what could be accounted for by T lymphocytes in bone marrow. In addition, a nonlymphoid tumor, the P815Y mastocytoma, was positive by cytotoxicity and by absorption. The extensive nonlymphoid expression and antigenic strength of Ly-6.2 raises the possibility that this serologically defined lymphocyte alloantigen will have histocompatibility effects when allografts of the appropriate tissues are examined.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization of rare disease genes, but has not yet been widely applied to common disease. We sought to design a systematic approach for LD mapping and apply it to the localization of a gene (IBD5) conferring ...
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 22 (1998), S. 342-346 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. Restorative proctocolectomy with ileo–pouch–anal anastomosis has become the elective surgical procedure of choice for most of our patients with ulcerative colitis and for selected patients with familial adenomatous polyposis. This report reviews the results of the outcome of patients who have undergone a more radical reconstructive approach for salvage of the pelvic pouch where multiple local procedures have failed. A group of 24 patients were reviewed (19 females, 5 males). The indication for surgery was ulcerative colitis in 22 patients; 10 of the 24 patients were referred from other centers. The 24 patients underwent a mean of 2.9 local salvage procedures per patient. Of the 19 females within the group, 12 had an anastomotic vaginal fistula. The 24 patients were divided into two groups. The first group consisted of 14 patients whose initial pouch was used once again for revisionary surgery. Group 2 comprised 10 patients whose initial pouch was removed and a redo pouch was constructed. Of the 24 patients, only 2 have had their pouches removed. More than 75% of the patients have had a successful outcome using a reconstructive approach. Four patients still have an ileostomy; of these four, two are awaiting closure of their loop ileostomy. Of 18 patients who were evaluable, 13 were considered to have normal daytime continence, and 17 of 18 were sexually functional. Of the 18 evaluable patients, 15 were satisfied with the outcome. Radical reconstructive surgery can be performed where local procedures to effect pouch salvage have failed, and it should be considered as a first-line management where factors dictate that local procedures might fail. The commitment of the surgeon and the patient to achieving a successful outcome is essential. Severe pouch-specific complications can be managed successfully by surgeons who have a specific interest in pelvic pouch surgery and have considerable experience dealing with complications that arise.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    World journal of surgery 12 (1988), S. 164-168 
    ISSN: 1432-2323
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Cet article concerne une expérience de 150 anastomoses iléorectales avec un réservoir iléal pelvien réalisées de janvier 1982 à mars 1986. Les 70 premiers réservoirs avaient une forme en J, les 80 dernières une forme en S (avec un conduit d'évacuation long de 2.5 cm au plus). Dans la majorité des cas du premier groupe, un long manchon de la paroi musculaire rectale (10 cm depuis la ligne pectinée) fut conservé cependant que dans quelques cas du premier groupe et la totalité des cas du second groupe un court manchon (2 cm depuis la ligne pectinée) fut préservé, modification qui eut des avantages techniques considérables et ne parut avoir aucun effet nocif fonctionnel. Une étude a été faite pour apprécier l'effet de ces variations techniques sur les résultats fonctionnels chez 82 opérés: 39 porteurs d'un réservoir en J avec un long manchon rectal, 2 avec un réservoir en S et un long manchon, 28 avec un réservoir en J et un court manchon, et 13 avec un reservoir en S et un court manchon. Au moment de l'étude initiale, les opérés porteurs d'un réservoir en J ont fait état d'une défécation plus fréquente et plus pressante, de troubles nocturnes plus nombreux que les opérés porteurs d'un réservoir en S. Huit mois plus tard presque toute différence avait disparu et 94% des opérés étaient satisfaits et heureux d'avoir évité une iléostomie encore que la plupart d'entre eux se plaignaient de quelques troubles intestinaux.
    Abstract: Resumen El artículo registra la experiencia con 150 anastomosis ileoanales con bolsas ileales pélvicas, realizadas entre enero de 1982 y marzo de 1986. Las bolsas fueron del tipo en J en los primeras 70 pacientes, y del tipo en S (con un conducto de egreso no mayor de 2.5 cm) en los Últimos 80. En la mayoría de los casos del primer grupo, se preservó un mango largo de capa muscular (10 cm a partir de la línea pectínea), mientras que en algunos del primer grupo y en todos los del segundo sólo se preservó un mango corto (2 cm a partir de la línea pectínea), una modificación técnica que exhibe considerables ventajas técnicas y que parece no acarrear problemas en cuanto al resultado funcional. Se realizó la evaluación de la influencia de estas variaciones en la técnica operatoria sobre la calidad del resultado funcional mediante el estudio de 82 pacientes: 39 con bolsa de tipo J y un mango rectal largo, 2 con bolsa de tipo S y un mango largo, 28 con bolsa de tipo J y un mango corto, y 13 con bolsa de tipo en S y un mango corto. En una revisión inicial los pacientes con bolsas en J informaron mayor urgencia y frecuencia en las defecaciones y mayores dificultades durante la noche que los pacientes con bolsas en S. Sin embargo, a los 8 meses casi todas estas diferencias habían desaparecido. En la actualidad, 94% de los pacientes se halla muy satisfecho con el resultado de la operación y complacido con haberse evitado una ileostomá, pero aÚn así la mayoría de ellos continuó con algunos problemas intestinales.
    Notes: Abstract This article reports an experience of 150 ileoanal anastomoses with pelvic ileal pouches performed between January, 1982 and March, 1986. The pouches were J-shaped in 70 patients, and S-shaped in 80 (with an exit conduit not longer than 2.5 cm). In most of the former group, a long cuff of rectal muscle coat (10 cm from the pectinate line) was preserved, while only a short cuff (2 cm from the pectinate line) was retained in some of the former group and all of the latter group, a modification which had considerable technical advantages and seemed to carry no detriment to subsequent function. An attempt was made to assess the influence of these variations in operative technique on the quality of the functional result by a special study of 82 patients: 39 with a J pouch and long rectal cuff, 2 with an S pouch and long rectal cuff, 28 with a J pouch and short cuff, and 13 with an S pouch and short cuff. At an initial survey, the patients with J pouches reported more urgency and frequency of defecation and more frequent disturbances at night than did those with S pouches. Almost all these differences disappeared 8 months later. At this stage, 94% of the patients were very pleased with the outcome of their surgery and glad to have avoided an ileostomy, but, even so, most of them continued to have some bowel complaints.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Recent characterization of the molecular genetic basis of hereditary nonpolyposis colorectal cancer provides an important opportunity for identification of individuals and their families with germline mutations in mismatch repair genes. Cancer family history criteria that accurately define hereditary colorectal cancer are necessary for cost-effective testing for germline mutations in mismatch repair genes. The present report describes the results of analysis of 33 colorectal cancer cases/families that satisfy our modified family history criteria (Mount Sinai criteria) for colorectal cancer. Fourteen of these families met the more stringent Amsterdam criteria. Germline MSH2 and MLH1 mutations were identified by the reverse transcription-polymerase chain reaction and the protein truncation test, and confirmed by sequencing. Microsatellite instability analysis was performed on available tumors from affected patients. MSH2 or MLH1 mutations were detected in 8 of 14 Amsterdam criteria families and in 5 of the remaining 19 cases/families that only satisfied the Mount Sinai criteria. Three of the latter families had features of the Muir-Torre syndrome. A high level of microsatellite instability (MSI-H) was detected in almost all (16/18) colorectal cancers from individuals with MSH2 and MLH1 mutations, and infrequently (1/21) in colorectal cancer specimens from cases without detectable mutations. Families with germline MSH2 and MLH1 mutations tended to have individuals affected at younger ages and with multiple tumors. The Amsterdam criteria are useful, but not sufficient, for detecting hereditary colorectal cancer families with germline MSH2 and MLH1 mutations, since a proportion of cases and families with mutations in mismatch repair genes will be missed. Further development of cancer family history criteria are needed, using unbiased prospectively collected cases, to define more accurately those who will benefit from MSH2 and MLH1 mutation analysis.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1530-0358
    Keywords: 5-Aminosalicylic acid ; Rowasa I ; Release profile
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 5-Aminosalicylic acid and its metabolite, N-ac-5-ASA, were measured in the plasma, urine, and ileostomy effluent of 24 ileostomates who ingested 750 mg Rowasa I® following an overnight fast. Twelve subjects previously had a small-bowel resection or had part of their small bowel out of circuit (mean 95 cm) (Group I) while 12 had an intact small bowel (Group II). The mean peak plasma concentration of N-ac-5-ASA was 1.11μ g/ml in Group 1 subjects compared with 2.80 μ g/ml in Group II subjects (P=N.S.). On average, 53.0 percent of the ingested Rowasa I was detected in the 24-hr ileostomy effluent of Group I subjects compared with 45.3 percent in the Group II subjects (P=N.S.). The mean recovery of 5-ASA and N-ac-5-ASA in urine was 8.5 percent in Group I and 35.6 percent in Group II subjects (P 〈0.001). These studies demonstrate that 5-ASA is released and present in the small bowel following oral ingestion of Rowasa I in patients who have or have not had small bowel resections.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Diseases of the colon & rectum 39 (1996), S. 384-387 
    ISSN: 1530-0358
    Keywords: Familial adenomatous polyposis ; Colorectal carcinoma ; Desmoid tumors ; Periampullary tumors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Widespread use of prophylactic colectomy has resulted in a reduction in the incidence of colorectal cancer in familial adenomatous polyposis (FAP) patients. A retrospective chart review of families registered at the Steve Atanas Stavro Familial Gastrointestinal Cancer Registry in Toronto was performed to determine whether the decrease in the number of patients developing colorectal cancer implies that causes of mortality in FAP patients are shifting to that of extracolonic manifestations of FAP. Information was available on 140 deaths within 158 families and among 461 individuals with FAP. When stratified by decade, from the 1930s to the 1990s, the ratio of deaths caused by extracolonic manifestations of FAP compared with deaths caused by colorectal cancer was noted to have risen. Even though most deaths in FAP patients are still from colorectal cancer, it appears that screening policies and prophylactic colectomy have resulted in a reduction in the number of FAP patients who develop colorectal cancer. Thus, in recent decades, a greater percentage of deaths in FAP patients appears to be attributable to extracolonic manifestations of the disease.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Diseases of the colon & rectum 34 (1991), S. 1005-1009 
    ISSN: 1530-0358
    Keywords: Ulcerative colitis ; Colectomy/complications ; Rectal diseases ; Hartmann's procedure ; Colon and rectal surgery
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Complications related to the retained rectal remnant were reviewed in 136 patients undergoing subtotal colectomy for acute ulcerative colitis. Fifty-five patients (Group 1) had a closed rectal stump brought up into the subcutaneous tissue, and 30 (Group 2) had an open mucous fistula. These were compared with an intrapelvic Hartmann's pouch performed in 51 patients (Group 3). All patients eventually had a pelvic pouch procedure. Age, duration and activity of disease, and preoperative steroid use were similar in all groups. There was no mortality. The rectal stump in 19 Group 1 patients (35 percent) spontaneously opened, and seven (13 percent) developed local left lower quadrant wound infections. Two Group 1 patients (4 percent) developed pelvic septic complications, as compared with two Group 2 patients (7 percent) and six Group 3 patients (12 percent). Subsequent pelvic dissection was difficult in 20 percent of Group 3 patients,vs. 4 percent and 0 percent of Group 1 and Group 2 patients, respectively (P 〈0.05). Persistent rectal disease activity was present in 41 percent of Group 3,vs. 27 percent of Groups 1 and 2. Our study suggests that exteriorization of the closed rectal stump following subtotal colectomy is associated with fewer pelvic septic complications and minimal local morbidity, facilitates subsequent pelvic dissection, and is not associated with increased disease activity in the retained rectum.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1530-0358
    Keywords: Quality of life ; Ulcerative colitis ; Crohn's disease ; Inflammatory bowel disease ; Pelvic pouch ; Ileostomy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Health-related quality of life (HRQOL) is a quantitative measurement of subjective perception of health state, including emotional and social aspects. It can be reliably measured with several valid instruments. Previous reviews of the literature suggested inadequate attention to HRQOL in studies of interventions in inflammatory bowel disease. PURPOSE: This study was undertaken to assess the current status of the quality of measurement of HRQOL in studies of inflammatory bowel disease and to review the clinical conclusions warranted by the literature. METHOD: Medline was searched for articles relating to ulcerative colitis, Crohn's disease, or inflammatory bowel disease and quality of life since 1981. The articles found were reviewed for citations of further articles. The adequacy of HRQOL measure was assessed and graded, and the study design was categorized to assess the strength of the literature on the whole. RESULTS: A trend was found toward higher quality of HRQOL measurement in the period 1988 to 1994 compared with 1981 to 1987. Most of the improvement was because of increased use of standardized and multidomain but unvalidated and unpublished questionnaires for measurement. CONCLUSIONS: Confidence in the following clinical conclusions in studies of surgical interventions in inflammatory bowel disease is limited by study design: that pelvic pouch is not inferior to ileostomy, that specific domains of HRQOL are differentially affected by different surgical procedures, and (with less confidence) that surgery is helpful in Crohn's disease. Medical studies have demonstrated that high quality HRQOL measures can be integrated into randomized, prospective trials. Clinically equivalent treatments have shown differential effects on HRQOL: 9 mg daily of budesonide is superior to 15 mg, and hydrocortisone foam enemas are superior to prednisolone. Home parenteral nutrition has received modest support, limited again by study design. It is recommended that standard tests of HRQOL be used to increase comparability of studies and to increase the quality of this literature in general. In particular the Inflammatory Bowel Disease Questionnaire, Rating Form of Inflammatory Bowel Disease Concerns, and Direct Questioning of Objectives are recommended.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Diseases of the colon & rectum 40 (1997), S. 240-243 
    ISSN: 1530-0358
    Keywords: Hereditary nonpolyposis colorectal carcinoma ; Microsatellite instability ; Genetic counseling ; Registries
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract PURPOSE: We report the case of a boy aged 13 years who was diagnosed with a Dukes B obstructing cancer of the sigmoid colon. At the time of diagnosis, he underwent a Hartmann's procedure with end colostomy. Because of his unusually young age, he was referred to the Familial GI Cancer Registry at Mount Sinai Hospital for genetic assessment. A detailed pedigree revealed no significant history other than lung cancer in his maternal grandfather. METHODS: We obtained his tumor specimen and performed molecular analysis of both normal colonic and tumor DNA. Specifically, we identified replication errors (RER) in the patient's tumor DNA when compared with normal colonic DNA. RER has been found in more than 90 percent of tumors from patients with Hereditary Nonpolyposis Colon Cancer (HNPCC) and is, thus, considered to be one of the hallmarks of this disease. Because HNPCC patients have a 40 percent risk of synchronous or metachronous tumors, the recommended surgery for HNPCC should be at least a subtotal colectomy with ileorectal anastomosis. RESULTS: Based on molecular results, we were able to recommend that the patient have a subtotal colectomy performed instead of merely colostomy closure, to reduce his lifetime risk of developing further colon tumors and to make surveillance of the remaining rectum relatively easy. In this patient, we subsequently identified a germline mutation of the mismatch repair gene hMSH2 that is implicated in HNPCC. The possibility of HNPCC should be considered in adolescents who are diagnosed with colorectal cancer, so appropriate surgical decisions can be made.
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