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Search Results: 1 - 10 of 2402 matches for " adenomatous polyposis coli "
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Poliposis familiar: Alternativas terapéuticas y estudio de los familiares
Soto D,Gonzalo; López-K?stner,Francisco; Zárate C,Alejandro; Vuletin S,Fernando; Rahmer O,Alejandro; León G,Francisca; Zú?iga D,álvaro;
Revista médica de Chile , 2005, DOI: 10.4067/S0034-98872005000900007
Abstract: background: to reduce the mortality associated to familial adenomatous polyposis (fap), screening of close relatives of patients with the disease is crucial. aim: to analyze the results of the surgical treatment of patients with fap, and to evaluate the family screening. patients and methods: clinical records of patients operated in our institution since 1977, were reviewed analyzing surgical and pathological results, and follow up. in their family members, we evaluated and analyzed the performance of screening tests, former surgeries, history of disease-related cancer and mortality, all due to fap. results: between january 1977 and august 2002, 15 patients were operated on. of these, only 33% consulted on the setting of a familial screening. a proctocolectomy and terminal ileostomy was performed in 27% of patients; 20% had a proctocolectomy and ileal pouch, and 53% underwent a total colectomy with ileo-rectal anastomosis. morbidity and mortality were 7% and 0%, respectively. twenty percent had a colorectal cancer. during a median of 68 months follow-up, the disease-related survival was 92%; no cancer of the rectal stump was detected. of the 122 family members identified, only 33% with clear indication of screening underwent a colonoscopy. twenty-nine percent had a confirmed fap and were operated: in 61% of them a colorectal cancer was found, and 91% of these died. conclusions: the results of the surgical treatment of fap are satisfactory. nevertheless, family screening should be improved to reduce the high rates of mortality revealed in the study of other family members (rev méd chile 2005; 133: 1043-50).
Poliposis familiar: Alternativas terapéuticas y estudio de los familiares Treatment of familial adenomatous polyposis and family screening
Gonzalo Soto D,Francisco López-K?stner,Alejandro Zárate C,Fernando Vuletin S
Revista médica de Chile , 2005,
Abstract: Background: To reduce the mortality associated to Familial Adenomatous Polyposis (FAP), screening of close relatives of patients with the disease is crucial. Aim: To analyze the results of the surgical treatment of patients with FAP, and to evaluate the family screening. Patients and Methods: Clinical records of patients operated in our institution since 1977, were reviewed analyzing surgical and pathological results, and follow up. In their family members, we evaluated and analyzed the performance of screening tests, former surgeries, history of disease-related cancer and mortality, all due to FAP. Results: Between January 1977 and August 2002, 15 patients were operated on. Of these, only 33% consulted on the setting of a familial screening. A proctocolectomy and terminal ileostomy was performed in 27% of patients; 20% had a proctocolectomy and ileal pouch, and 53% underwent a total colectomy with ileo-rectal anastomosis. Morbidity and mortality were 7% and 0%, respectively. Twenty percent had a colorectal cancer. During a median of 68 months follow-up, the disease-related survival was 92%; no cancer of the rectal stump was detected. Of the 122 family members identified, only 33% with clear indication of screening underwent a colonoscopy. Twenty-nine percent had a confirmed FAP and were operated: in 61% of them a colorectal cancer was found, and 91% of these died. Conclusions: The results of the surgical treatment of FAP are satisfactory. Nevertheless, family screening should be improved to reduce the high rates of mortality revealed in the study of other family members (Rev Méd Chile 2005; 133: 1043-50).
Manifesta??es extracol?nicas da polipose adenomatosa familiar: incidência e impacto na evolu??o da doen?a
Campos, Fábio Guilherme;Habr-Gama, Angelita;Kiss, Desidério Roberto;Atuí, Fábio César;Katayama, Fábio;Gama-Rodrigues, Joaquim;
Arquivos de Gastroenterologia , 2003, DOI: 10.1590/S0004-28032003000200006
Abstract: background: familial adenomatous polyposis is a hereditary disease with autossomic and dominant features, frequently associated to many extracolonic manifestations. aim: to report extracolonic manifestations incidence and to analyze its impact on the disease's outcome. patients and methods: revision of patient charts treated from 1977 to 2001, relating associated extracolonic manifestations and its complications. results: among 59 familial adenomatous polyposis patients, 23 (38,9%) presented some extracolonic manifestations at diagnosis or during follow-up. there were registered 37 different extracolonic manifestations (1.6 per patient). the most common manifestations were osteomas and congenital hypertrophy of the retinal pigment epithelium, diagnosed in 25% and 20% of the investigated patients, respectively. other extracolonic manifestations were represented by upper digestive adenomas, epidermoid cysts, desmoid tumor (seven each), gastric cancer (three) and tireoid cancer (two). desmoid-associated complications were reported in six patients, being intestinal obstruction in four and hidronephrosis in two; two deaths (28,5%) were registered. conclusions: extracolonic manifestations incidence is high (40%) and may affect disease's outcome and patient's quality of life. for these reasons, the research, prevention and adequate treatment of extracolonic manifestations turn into vital importance in familial adenomatous polyposis patients.
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation
Ioannidis,Orestis; Paraskevas,George; Chatzopoulos,Stavros; Kotronis,Anastasios; Papadimitriou,Nikolaos; Konstantara,Athina; Makrantonakis,Apostolos; Kakoutis,Emmanouil;
Revista Espa?ola de Enfermedades Digestivas , 2012, DOI: 10.4321/S1130-01082012000300009
Abstract: familial adenomatous polyposis (fap) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. the syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. the syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (apc) gene. we present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline apc mutation, the w421x mutation, which resulted in fap presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X
Orestis Ioannidis,George Paraskevas,Stavros Chatzopoulos,Anastasios Kotronis
Revista Espa?ola de Enfermedades Digestivas , 2012,
Abstract: Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis
Karin álvarez,Marjorie de la Fuente,Paulina Orellana,Ana María Wielandt
Revista médica de Chile , 2012,
Abstract: Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.
Post Surgical Desmoid Tumors in Familial Adenomatous Polyposis: A Case Report
M. Sanei Taheri,Sh. Birang,V. Nahvi
Iranian Journal of Radiology , 2006,
Abstract: Literature review indicates that desmoid tu mors are exceedingly common in familial adenomatous polyposis (FAP), where the comparative risk is 852 times that of the general population. Prior abdominal surgery has been found in as many as 68 % of FAP patients with abdominal desmoid. Fifty-five percent develop these lesions within 5 years of surgery. We de-scribe a 45-year-old pa tient with Gardner's syndrome complicated by a desmoid tumor 2 years after he had a prophy lactic colectomy.
Proctocolectomy and ileal J-pouch anal anastomosis on the surgical treatment of familial adenomatous polyposis and ulcerative colitis: analysis of 49 cases
Medeiros, Bruno Amaral;Iezzi, Leonardo Estenio;Feitosa, Marley Ribeiro;Parra, Rogério Serafim;Almeida, Ana Luiza Normanha Ribeiro de;Carvalho, Raphael Gurgel de;Rocha, Jose Joaquim Ribeiro da;Feres, Omar;
Journal of Coloproctology (Rio de Janeiro) , 2012, DOI: 10.1590/S2237-93632012000300009
Abstract: objective: to evaluate the results of ileal j-pouch anal anastomosis in ulcerative colitis and familial adenomatous polyposis. method: retrospective analysis of medical records of 49 patients submitted to ileal j-pouch anal anastomosis. results: ulcerative colitis was diagnosed in 65% and familial adenomatous polyposis in 34%. mean age was 39.5 years. 43% were male. among familial adenomatous polyposis, 61% were diagnosed with colorectal cancer. thirty-one percent of patients with ulcerative colitis was submitted to a previous surgical approach and 21% of these had toxic megacolon. average hospital stay was 10 days. post-operative complications occurred in 50% of patients with ulcerative colitis and 29.4% with familial adenomatous polyposis. intestinal diversion was performed in 100% of ulcerative colitis and 88% of familial adenomatous polyposis. pouchitis occurred in eight cases (seven ulcerative colitis and one fap), requiring excision of the pouch in three ulcerative colitis. mortality rate was 7.6%: two cases of carcinoma on the pouch and two post-operative complications. late post-operative complications occurred in 22.4%: six familial adenomatous polyposis and five ulcerative colitis). two patients had erectile dysfunction, and one retrograde ejaculation. one patient with severe perineal dermatitis was submitted to excision of the pouch. incontinence occurred in four patients and two reported soil. mean bowel movement was five times a day. conclusion: ileal j-pouch anal anastomosis is a safe surgery with acceptable morbidity and good functional results, if well indicated and performed in referral centers.
Desmoid tumor in patients with familial adenomatous polyposis
Leal, Raquel Franco;Silva, Patricia V. V. Tapia;Ayrizono, Maria de Lourdes Setsuko;Fagundes, Jo?o José;Amstalden, Eliane M. Ingrid;Coy, Cláudio Saddy Rodrigues;
Arquivos de Gastroenterologia , 2010, DOI: 10.1590/S0004-28032010000400010
Abstract: context: desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. the development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. objectives: to evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. methods: between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the school of medical sciences teaching hospital, university of campinas, sp, brazil. desmoid tumors were found in nine (13.2%) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. results: of nine patients, seven (77.8%) were submitted to laparotomy for tumor resection. median age at the time of surgery was 33.9 years (range 22-51 years). desmoid tumors were found in the abdominal wall in 3/9 cases (33.3%) and in an intra-abdominal site in the remaining six cases (66.7%). median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). in 6/9 (66.7%) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months). conclusions: desmoid tumors were found in 13.2% of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.
Polipose gastroduodenal em doentes com polipose adenomatosa familiar Pós-Retocolectomia
Leal, Raquel Franco;Ayrizono, Maria de Lourdes Setsuko;Coy, Cláudio Saddy Rodrigues;Callejas-Neto, Francisco;Fagundes, Jo?o José;Góes, Juvenal Ricardo Navarro;
Arquivos de Gastroenterologia , 2007, DOI: 10.1590/S0004-28032007000200009
Abstract: background: the extra colonic manifestations, like upper gastrointestinal tract polyps and duodenal cancer are disorders that affect long-term morbidity and mortality of patients with familial adenomatous polyposis, after rectocolectomy. aim: to describe the frequency of those disorders in patients with familial adenomatous polyposis and to review efficacy of upper gastrointestinal endoscopic surveillance. methods: between 1984 and 2005, 62 patients with familial adenomatous polyposis after rectocolectomy, were studied retrospectively, by coloproctology group, medical sciences faculty, state university of campinas, sp, brazil. it was possible to analyze 53 patients (85,5%) in this study. results: twenty seven (50,9%) of 53 patients in follow-up had upper gastrointestinal polyps. eight (15,4%) had gastric adenomatous polyps, 14 (27%), duodenal polyps and 5 (9,6%) duodenal and gastric polyps. two patients (3,8%) had adenomatous duodenal polyps with severe dysplasia, and one (1,9%) had adenocarcinoma of the duodenal papilla. conclusion: the upper gastrointestinal endoscopic surveillance has importance and the aim is to detect as early as possible the occurrence of duodenal adenocarcinoma and upper gastrointestinal polyps with severe dysplasia.
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