Results 101 to 110 of about 34,811 (221)

Adenocarcinoma arising in adenomatous polyposis coli

Sakarya Medical Journal, 2014
Familyal adenomatöz polipozi koli (FAP) özellikle kolon epitelinde çok sayıda polip oluşumuyla karakterize genetik geçişli bir sendromdur. Tedavi edilmediği takdirde kanser gelişme riski giderek artmaktadır. Rektal kanama ve karın ağrısı gibi aşikar semptomlardan dolayı hastalar genellikle erken tanı almaktadır.
YILMAZ, Eyüp Murat, ÖZDEN, Ferhat
openaire   +3 more sources

Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

Endoscopy International Open, 2017
Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the ...
Keiko Nakamura, Satoru Nonaka, Takeshi Nakajima, Tatsuo Yachida, Seiichiro Abe, Taku Sakamoto, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Takahisa Matsuda, Shigeki Sekine, Yukihide Kanemitsu, Hitoshi Katai, Yutaka Saito, Seiichi Hirota   +14 more
doaj   +1 more source

Recurrent Fistula between Ileal Pouch and Vagina—Successful Treatment with a Gracilis Muscle Flap

Case Reports in Medicine, 2009
Fistulae between an ileal pouch and the vagina are an uncommon complication of ileal pouch-anal anastomosis following proctocolectomy and mucosectomy in patients with familial adenomatous polyposis coli.
Feride Aydin, Claus Ferdinand Eisenberger, Andreas Raffel, Alexander Rehders, Stefan Benedikt Hosch, Wolfram Trudo Knoefel   +5 more
doaj   +1 more source

Double frameshift mutations in APC and MSH2 in the same individual [PDF]

, 2018
Heterozygous germline DNA mismatch repair gene mutations are typically associated with HNPCC. Here we report the case of a proband whose father was known for familial adenomatous polyposis. The number of polyps (
Arrigoni, Eviano, Berthod, Claudine, Blouin, Jean-Louis, Bründler, Marie-Anne, DeLozier, Celia, Dobbie, Zuzana, Foulkes, William, Hutter, Pierre, Soravia, Claudio   +8 more
core   +1 more source

IMMEDIATE AND LATE RESULTS OF ILEOSTOMY CLOSURE IN PATIENTS WITH FAMILIAL ADENOMATOUS POLYPOSIS UNDERGOING RESTORATIVE PROCTOCOLECTOMY BY OPEN OR LAPAROSCOPIC APPROACHES [PDF]

Arquivos de Gastroenterologia
Background: Restorative proctocolectomy (RPC) is a common surgical indication to manage familial adenomatous polyposis (FAP) patients. Objective: We compared outcomes after ileostomy closure in patients undergoing laparoscopic (LAP) or conventional ...
Fábio Guilherme CAMPOS, Carlos Augusto Real MARTINEZ, Carlos Frederico Sparapan MARQUES, Ulysses RIBEIRO JUNIOR, Paulo HERMAN   +4 more
doaj   +1 more source

An uncommon intersection: Familial adenomatous polyposis and solid pseudopapillary neoplasm of the pancreas: A case report and review of the literature

Radiology Case Reports
The co-occurrence of both Familial Adenomatous Polyposis (FAP) and Solid Pseudopapillary Neoplasms (SPN) of the pancreas is extremely uncommon, with limited reports published in the literature. FAP is a rare inherited disorder caused by a mutation in the
Hajra Arshad, Charles K. Crawford, Elliot K. Fishman   +2 more
doaj   +1 more source

A New Germline Stop Codon Mutation in Exon 15 of the Gene Predisposing to Familial Adenomatous Polyposis

The International Journal of Biological Markers, 2013
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder related to germline mutations of the adenomatous polyposis coli ( APC ) gene. It is characterized by the detection of numerous adenomatous polyps that, if untreated, develop into ...
Laura Schirosi, Marcello Pellegrino, Paolo Tarantino, Salvatore Mauro, Andrea Tinelli, Marilena Greco PhD   +5 more
doaj   +1 more source

Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature [PDF]

Clinical and Experimental Pediatrics
Adenomatous polyposis coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial ...
Koral M. Blunt, Monirah Albathi, Miriam Conces, Tendy Chiang   +3 more
doaj   +1 more source

Poliposis familiar hereditaria y síndrome de Gardner: aportación de la exploración odontoestomatológica a su diagnóstico y descripción de un caso [PDF]

, 2005
La poliposis adenomatosa familiar (PAF) y su variante fenotípica, el síndrome de Gardner, constituyen una infrecuente patología hereditaria autosómica dominante.
Blanco, Ignacio, Chimenos Küstner, Eduardo, Finestres, Fernando, Pacual, Montserrat   +3 more
core   +1 more source

Trabid patient mutations impede the axonal trafficking of adenomatous polyposis coli to disrupt neurite growth. [PDF]

Elife, 2023
Frank D, Bergamasco M, Mlodzianoski MJ, Kueh A, Tsui E, Hall C, Kastrappis G, Voss AK, McLean C, Faux M, Rogers KL, Tran B, Vincan E, Komander D, Dewson G, Tran H.   +15 more
europepmc   +1 more source