Lynch syndrome is an autosomal dominant syndrome that can be subdivided into Lynch syndrome I, or site-specific colonic cancer, and Lynch syndrome II, or extracolonic cancers, particularly carcinomas of the stomach, endometrium, biliary and pancreatic systems, and urinary tract. Lynch syndrome is associated with point mutations and large rearrangements in DNA MisMatch Repair (MMR) genes. This s...

Background Lynch syndrome (LS) is a genetic disorder that accounts for approximately 3% of all colorectal cancers (CRC) [1]. Clinical characteristics of LS include proximal CRC, multiple CRCs, occurrence at a young age, accelerated carcinogenesis, and an increase in risk of extracolonic cancers [1]. LS is an autosomal dominant disorder, caused by germline mutations in DNA mismatch repair (MMR) ...

Materials and methods We identified 144 families of MUTYH mutation carriers from three countries that we ascertained through population-based sources of the multi-site, international Colon Cancer Family Registry. Mutation status, sex, age, and histories of cancer, polypectomy, and hysterectomy were sought from 2,179 of their relatives. Using Cox regression weighted to adjust for the method of a...

While colonoscopy is generally regarded as a safe procedure, colonic perforation can occur and the risk of this is higher when interventional procedures are undertaken. The presentation may be acute or delayed depending on the extent of the perforation. Extracolonic gas following colonic perforation can migrate to several body compartments that are embryologically related and it has previously ...

background the incidence of transient neurologic symptoms (tns) after spinal anesthesia with lidocaine is reported as high as 40%. objectives this prospective clinical trial was designed to determine the incidence of tns in patients who underwent spinal anesthesia with two different needles, in two different surgical positions. patients and methods the present randomized clinical trial was cond...

Objective: Familial adenomatous polyposis (FAP), an autosomal dominant inherited disorder is characterized by the presence of multiple adenomatous colorectal polyps, which can develop into cancer during early adulthood. Therefore, early diagnosis is essential. Most FAP patients have several extracolonic manifestations, including congenital hypertrophy of the retinal pigment epithelium (CHRPE). ...

Cachon-Gonzalez et al (7 Med Genet 1991;28:681-5) describe their experience with four linked DNA markers (x227, Cl ip 1, YN5.48, and ECB27) flanking the familial adenomatous polyposis (FAP) locus. They conclude that "lod scores are sufficiently high to allow the use of these probes in presymptomatic diagnosis". In the absence of large bowel adenomas or extracolonic manifestations of the FAP gen...

Introduction: India ink is routinely used for preoperative marking of colonic lesions to facilitate identification during laparoscopic colon surgery. It is a relatively inert dye with few reported adverse effects. Case Description: We report a case of inadvertent extracolonic tattooing and intra-peritoneal spillage of India ink leading to adhesions and formation of a mass, which mimicked malign...