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Francis M. Giardiello - One of the best experts on this subject based on the ideXlab platform.
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primary chemoprevention of Familial Adenomatous Polyposis with sulindac
The New England Journal of Medicine, 2002Co-Authors: Francis M. Giardiello, Gloria M. Petersen, Anne J. Krush, Vincent W Yang, Linda M Hylind, Jill Brensinger Trimbath, Steven Piantadosi, Elizabeth Garrett, Deborah E Geiman, Walter C HubbardAbstract:Background Familial Adenomatous Polyposis is caused by a germ-line mutation in the Adenomatous Polyposis coli gene and is characterized by the development of hundreds of colorectal adenomas and, eventually, colorectal cancer. Nonsteroidal antiinflammatory drugs can cause regression of adenomas, but whether they can prevent adenomas is unknown. Methods We conducted a randomized, double-blind, placebo-controlled study of 41 young subjects (age range, 8 to 25 years) who were genotypically affected with Familial Adenomatous Polyposis but phenotypically unaffected. The subjects received either 75 or 150 mg of sulindac orally twice a day or identical-appearing placebo tablets for 48 months. The number and size of new adenomas and side effects of therapy were evaluated every four months for four years, and the levels of five major prostaglandins were serially measured in biopsy specimens of normal-appearing colorectal mucosa. Results After four years of treatment, the average rate of compliance exceeded 76 perce...
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Nasopharyngeal Angiofibroma in Patients With Familial Adenomatous Polyposis
Gastroenterology, 1993Co-Authors: Francis M. Giardiello, Stanley R. Hamilton, Anne J. Krush, Johan Offerhaus, Susan V. Booker, Gloria M. PetersenAbstract:Four patients with nasopharyngeal angiofibroma and Familial Adenomatous Polyposis are reported here. Nasopharyngeal angiofibroma was 25 times more frequent in our patient population with Familial Adenomatous Polyposis than in an age-matched hospital population. The association of these two rare conditions suggests that nasopharyngeal angiofibroma is an extracolonic manifestation of Adenomatous Polyposis. In addition, somatic mutation of the Adenomatous Polyposis coli gene, which causes Adenomatous Polyposis when mutated in the germline, could play a role in the pathogenesis of sporadic nasopharyngeal angiofibroma.
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The risk of upper gastrointestinal cancer in Familial Adenomatous Polyposis.
Gastroenterology, 1992Co-Authors: G. Johan A. Offerhaus, Francis M. Giardiello, Anne J. Krush, Susan V. Booker, Anne C. Tersmette, N.christopher Kelley, Stanley R. HamiltonAbstract:Abstract Adenomas with potential for malignancy occur frequently in the upper gastrointestinal tract of patients with Familial Adenomatous Polyposis. However, an assessment of relative risk of upper gastrointestinal cancer in patients with Adenomatous Polyposis has never been performed. Therefore, the incidence rate of upper gastrointestinal cancer in patients with Familial Adenomatous Polyposis in The Johns Hopkins Registry was compared with the rate of the general population through person-year analysis with adjustment for demographics. There was an increased relative risk of duodenal adenocarcinoma (relative risk, 330.82; 95% confidence limits, 132.66 and 681.49; P P
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Value of combined phenotypic markers in identifying inheritance of Familial Adenomatous Polyposis.
Gut, 1991Co-Authors: Francis M. Giardiello, Anne J. Krush, Susan V. Booker, G.j.a. Offerhaus, Elias I. Traboulsi, J C Graybeal, Irene H. Maumenee, L S Levin, Stanley R. HamiltonAbstract:Familial Adenomatous Polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited Familial Adenomatous Polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with Familial Adenomatous Polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with Familial Adenomatous Polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited Familial Adenomatous Polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of Familial Adenomatous Polyposis.
Stanley R. Hamilton - One of the best experts on this subject based on the ideXlab platform.
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Nasopharyngeal Angiofibroma in Patients With Familial Adenomatous Polyposis
Gastroenterology, 1993Co-Authors: Francis M. Giardiello, Stanley R. Hamilton, Anne J. Krush, Johan Offerhaus, Susan V. Booker, Gloria M. PetersenAbstract:Four patients with nasopharyngeal angiofibroma and Familial Adenomatous Polyposis are reported here. Nasopharyngeal angiofibroma was 25 times more frequent in our patient population with Familial Adenomatous Polyposis than in an age-matched hospital population. The association of these two rare conditions suggests that nasopharyngeal angiofibroma is an extracolonic manifestation of Adenomatous Polyposis. In addition, somatic mutation of the Adenomatous Polyposis coli gene, which causes Adenomatous Polyposis when mutated in the germline, could play a role in the pathogenesis of sporadic nasopharyngeal angiofibroma.
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The risk of upper gastrointestinal cancer in Familial Adenomatous Polyposis.
Gastroenterology, 1992Co-Authors: G. Johan A. Offerhaus, Francis M. Giardiello, Anne J. Krush, Susan V. Booker, Anne C. Tersmette, N.christopher Kelley, Stanley R. HamiltonAbstract:Abstract Adenomas with potential for malignancy occur frequently in the upper gastrointestinal tract of patients with Familial Adenomatous Polyposis. However, an assessment of relative risk of upper gastrointestinal cancer in patients with Adenomatous Polyposis has never been performed. Therefore, the incidence rate of upper gastrointestinal cancer in patients with Familial Adenomatous Polyposis in The Johns Hopkins Registry was compared with the rate of the general population through person-year analysis with adjustment for demographics. There was an increased relative risk of duodenal adenocarcinoma (relative risk, 330.82; 95% confidence limits, 132.66 and 681.49; P P
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Value of combined phenotypic markers in identifying inheritance of Familial Adenomatous Polyposis.
Gut, 1991Co-Authors: Francis M. Giardiello, Anne J. Krush, Susan V. Booker, G.j.a. Offerhaus, Elias I. Traboulsi, J C Graybeal, Irene H. Maumenee, L S Levin, Stanley R. HamiltonAbstract:Familial Adenomatous Polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited Familial Adenomatous Polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with Familial Adenomatous Polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with Familial Adenomatous Polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited Familial Adenomatous Polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of Familial Adenomatous Polyposis.
Gloria M. Petersen - One of the best experts on this subject based on the ideXlab platform.
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primary chemoprevention of Familial Adenomatous Polyposis with sulindac
The New England Journal of Medicine, 2002Co-Authors: Francis M. Giardiello, Gloria M. Petersen, Anne J. Krush, Vincent W Yang, Linda M Hylind, Jill Brensinger Trimbath, Steven Piantadosi, Elizabeth Garrett, Deborah E Geiman, Walter C HubbardAbstract:Background Familial Adenomatous Polyposis is caused by a germ-line mutation in the Adenomatous Polyposis coli gene and is characterized by the development of hundreds of colorectal adenomas and, eventually, colorectal cancer. Nonsteroidal antiinflammatory drugs can cause regression of adenomas, but whether they can prevent adenomas is unknown. Methods We conducted a randomized, double-blind, placebo-controlled study of 41 young subjects (age range, 8 to 25 years) who were genotypically affected with Familial Adenomatous Polyposis but phenotypically unaffected. The subjects received either 75 or 150 mg of sulindac orally twice a day or identical-appearing placebo tablets for 48 months. The number and size of new adenomas and side effects of therapy were evaluated every four months for four years, and the levels of five major prostaglandins were serially measured in biopsy specimens of normal-appearing colorectal mucosa. Results After four years of treatment, the average rate of compliance exceeded 76 perce...
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Nasopharyngeal Angiofibroma in Patients With Familial Adenomatous Polyposis
Gastroenterology, 1993Co-Authors: Francis M. Giardiello, Stanley R. Hamilton, Anne J. Krush, Johan Offerhaus, Susan V. Booker, Gloria M. PetersenAbstract:Four patients with nasopharyngeal angiofibroma and Familial Adenomatous Polyposis are reported here. Nasopharyngeal angiofibroma was 25 times more frequent in our patient population with Familial Adenomatous Polyposis than in an age-matched hospital population. The association of these two rare conditions suggests that nasopharyngeal angiofibroma is an extracolonic manifestation of Adenomatous Polyposis. In addition, somatic mutation of the Adenomatous Polyposis coli gene, which causes Adenomatous Polyposis when mutated in the germline, could play a role in the pathogenesis of sporadic nasopharyngeal angiofibroma.
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Screening guidelines and premorbid diagnosis of Familial Adenomatous Polyposis using linkage.
Gastroenterology, 1991Co-Authors: Gloria M. Petersen, Joan Slack, Yusuke NakamuraAbstract:Restriction fragment-length polymorphisms in the chromosome 5q21-22 region can now be used clinically for premorbid diagnosis and counseling in Familial Adenomatous Polyposis. Two families are presented in which DNA diagnosis for Familial Adenomatous Polyposis was performed using linked restriction fragment-length polymorphisms. Screening guidelines are improved using data from the Polyposis registers at St. Mark's Hospital (London) and Western Australia (Perth) on at-risk family members who subsequently developed Familial Adenomatous Polyposis. In these registers, 103 of 137 relatives tested positive on initial screening; of the remaining 34, the average interval between initial negative screening and development of Familial Adenomatous Polyposis was 7.5 years. All those who had inherited the Familial Adenomatous Polyposis gene manifested the polyps by age 34 years. Combined with linkage marker data, the a priori 50% risk for relatives can now be reduced to less than 0.5% by age 30 years if there is an initial negative result on sigmoidoscopy and a negative diagnosis by linkage analysis. The screening management for those found by linkage to have inherited Familial Adenomatous Polyposis remains unchanged from established recommendations; however, for individuals who most likely have not inherited Familial Adenomatous Polyposis, the clinician can emphasize the positive aspects of screening management, including longer screening intervals.
Anne J. Krush - One of the best experts on this subject based on the ideXlab platform.
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primary chemoprevention of Familial Adenomatous Polyposis with sulindac
The New England Journal of Medicine, 2002Co-Authors: Francis M. Giardiello, Gloria M. Petersen, Anne J. Krush, Vincent W Yang, Linda M Hylind, Jill Brensinger Trimbath, Steven Piantadosi, Elizabeth Garrett, Deborah E Geiman, Walter C HubbardAbstract:Background Familial Adenomatous Polyposis is caused by a germ-line mutation in the Adenomatous Polyposis coli gene and is characterized by the development of hundreds of colorectal adenomas and, eventually, colorectal cancer. Nonsteroidal antiinflammatory drugs can cause regression of adenomas, but whether they can prevent adenomas is unknown. Methods We conducted a randomized, double-blind, placebo-controlled study of 41 young subjects (age range, 8 to 25 years) who were genotypically affected with Familial Adenomatous Polyposis but phenotypically unaffected. The subjects received either 75 or 150 mg of sulindac orally twice a day or identical-appearing placebo tablets for 48 months. The number and size of new adenomas and side effects of therapy were evaluated every four months for four years, and the levels of five major prostaglandins were serially measured in biopsy specimens of normal-appearing colorectal mucosa. Results After four years of treatment, the average rate of compliance exceeded 76 perce...
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Nasopharyngeal Angiofibroma in Patients With Familial Adenomatous Polyposis
Gastroenterology, 1993Co-Authors: Francis M. Giardiello, Stanley R. Hamilton, Anne J. Krush, Johan Offerhaus, Susan V. Booker, Gloria M. PetersenAbstract:Four patients with nasopharyngeal angiofibroma and Familial Adenomatous Polyposis are reported here. Nasopharyngeal angiofibroma was 25 times more frequent in our patient population with Familial Adenomatous Polyposis than in an age-matched hospital population. The association of these two rare conditions suggests that nasopharyngeal angiofibroma is an extracolonic manifestation of Adenomatous Polyposis. In addition, somatic mutation of the Adenomatous Polyposis coli gene, which causes Adenomatous Polyposis when mutated in the germline, could play a role in the pathogenesis of sporadic nasopharyngeal angiofibroma.
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The risk of upper gastrointestinal cancer in Familial Adenomatous Polyposis.
Gastroenterology, 1992Co-Authors: G. Johan A. Offerhaus, Francis M. Giardiello, Anne J. Krush, Susan V. Booker, Anne C. Tersmette, N.christopher Kelley, Stanley R. HamiltonAbstract:Abstract Adenomas with potential for malignancy occur frequently in the upper gastrointestinal tract of patients with Familial Adenomatous Polyposis. However, an assessment of relative risk of upper gastrointestinal cancer in patients with Adenomatous Polyposis has never been performed. Therefore, the incidence rate of upper gastrointestinal cancer in patients with Familial Adenomatous Polyposis in The Johns Hopkins Registry was compared with the rate of the general population through person-year analysis with adjustment for demographics. There was an increased relative risk of duodenal adenocarcinoma (relative risk, 330.82; 95% confidence limits, 132.66 and 681.49; P P
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Value of combined phenotypic markers in identifying inheritance of Familial Adenomatous Polyposis.
Gut, 1991Co-Authors: Francis M. Giardiello, Anne J. Krush, Susan V. Booker, G.j.a. Offerhaus, Elias I. Traboulsi, J C Graybeal, Irene H. Maumenee, L S Levin, Stanley R. HamiltonAbstract:Familial Adenomatous Polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited Familial Adenomatous Polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with Familial Adenomatous Polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with Familial Adenomatous Polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited Familial Adenomatous Polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of Familial Adenomatous Polyposis.
James M. Church - One of the best experts on this subject based on the ideXlab platform.
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Dispelling misconceptions in the management of Familial Adenomatous Polyposis.
ANZ journal of surgery, 2017Co-Authors: Timothy J. Chittleborough, Satish K. Warrier, Alexander G. Heriot, Matthew F. Kalady, James M. ChurchAbstract:Patients with Familial Adenomatous Polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the Polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with Familial Adenomatous Polyposis.
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Desmoids and genotype in Familial Adenomatous Polyposis.
Diseases of the colon and rectum, 2015Co-Authors: James M. Church, Carol A. Burke, Xhileta Xhaja, Lisa Laguardia, Margaret O'malley, Matthew F. KaladyAbstract:BACKGROUND:Desmoid disease can be a serious, life-threatening complication of Familial Adenomatous Polyposis. The ability to predict patients at increased desmoid risk is important, but a convincing genotype-phenotype correlation for desmoid formation has not yet been described.PURPOSE:The aim of th
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Desmoid Disease in Familial Adenomatous Polyposis
Desmoid Tumors, 2011Co-Authors: James M. ChurchAbstract:Desmoid disease is a feature of Familial Adenomatous Polyposis, a dominantly inherited syndrome of cancer predisposition due to germline mutations in the tumor suppressor gene APC. About 30% of patients with Familial Adenomatous Polyposis develop desmoid disease, especially women, those with a family history of desmoids, those with the extracolonic manifestations of Gardner’s syndrome, and those with a mutation 3′ of codon 1440. Most desmoids occur in the abdominal wall or inside the abdomen, usually developing after prophylactic colectomy. They may grow rapidly, causing pain, and bowel or ureteric obstruction. No treatment is predictably effective but options include nonsteroidal antiinflammatory drugs (NSAIDs), antiestrogen drugs, chemotherapy, and excision. While desmoid disease can be lethal, patients usually live in equilibrium with their disease.
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screening for thyroid cancer in patients with Familial Adenomatous Polyposis
Annals of Surgery, 2011Co-Authors: Awad Jarrar, Carol A. Burke, Lisa Laguardia, Mira Milas, Jamie Mitchell, Margaret Omalley, Eren Berber, Allan Siperstein, James M. ChurchAbstract:Objective:Clarify the incidence of thyroid cancer in patients with Familial Adenomatous Polyposis (FAP) in a prospective study of thyroid neck US screening.Background:FAP is a hereditary disease predisposing to cancer in multiple organs, including the thyroid. However, routine thyroid screening for
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Surgery for Familial Adenomatous Polyposis
Hereditary Colorectal Cancer, 2010Co-Authors: James M. ChurchAbstract:Patients with Familial Adenomatous Polyposis are at high risk of developing colorectal cancer. Successful prevention of cancer depends on timely and appropriate surgery. Decisions regarding the timing and choice of surgery are driven primarily by the severity of the Polyposis and the social situation of the patient. Immediate surgery is recommended for patients presenting with cancer, while symptomatic patients and those with profuse Polyposis should be operated without delay. Asymptomatic patients and those with mild or attenuated Polyposis may be operated electively, and surgery can be delayed for years as long as regular colonoscopy shows no increase in cancer risk. A secondary aim of prophylactic colectomy in Familial Adenomatous Polyposis is preservation of bowel function and quality of life. To this end, patients with mild Polyposis are recommended to have a colectomy and ileorectal anastomosis, often performed with minimally invasive technique. Careful selection results in a low incidence of rectal cancer and proctectomy. Severely affected patients have proctocolectomy and ileal pouch-anal anastomosis, and most have acceptable functional outcomes. Lifetime surveillance of residual gastrointestinal tract is mandatory for all patients. Desmoid disease occurs in 30% of Familial Adenomatous Polyposis patients, and is the second most common cause of death. Patients at high risk of desmoid disease should have the surgical strategy re-evaluated with a view to minimizing the incidence and impact of desmoids.