Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021933 (intussusception)
 3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Coeliac disease is a malabsorption syndrome in which dietary gluten damages the small bowel mucosa. Gluten contains gliadin, the primary toxic component that is primarily found in wheat, barley and rye products. The initial diagnosis of coeliac disease is usually made by endoscopic biopsy of the jejunum although sometimes imaging features can suggest the diagnosis. Once a diagnosis is made, patients need to be diet compliant and monitored for potential complications. Many complications are more common when dietary compliance is poor. Complications include intussusception (usually intermittent), ulcerative jejunitis, osteomalacia, cavitating lymph node syndrome and an increased risk of malignancies such as lymphoma, adenocarcinoma and squamous cell carcinoma. Radiological evaluation is central in the evaluation of these complications. Imaging may assist both in the diagnosis and staging of complications as well as enabling radiological guided percutaneous biopsy for complications of coeliac disease such as lymphoma. As coeliac disease is a relatively common disorder, it is likely that most radiologists will encounter the disease and its potential complications. The aim of this review article is to discuss and illustrate the role of modern radiology in evaluating the many presentations of this complex disease.
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PMID:The imaging of coeliac disease and its complications. 1753 15

A 29-year-old man with a previously known Peutz-Jeghers syndrome (PJS) was admitted for epigastric pain, emesis and weight loss due to both intestinal intussusception causing bowel obstruction and obstructive pancreatitis. The patient had cholestasis with an enlarged common bile duct on imaging. Because duodenal and/or pancreatic cancer was suspected due to weight loss, the pancreatic and bile duct obstruction, and the increased risk of small intestine and pancreatic adenocarcinoma in patients with PSJ, a pancreatoduodenectomy was performed. Pathological examination revealed a duodenal polyp with epithelial misplacement invading the ampulla and compressing the main bile duct. Twenty months after surgery, there was no relapse of symptoms or cholestasis. This is the first case showing a direct role of pseudo-invasive duodenal harmatomas in the development of biliary obstruction and chronic obstructive pancreatitis.
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PMID:[Suspected malignant cancer of the pancreas associated with pseudo-invasive duodenal hamartomas in a patient with Peutz-Jeghers syndrome]. 1754 48

The persistent activation of the phosphatidylinositol 3-kinase (PI3K)/Akt pathway is oncogenic and involved in colorectal neoplasia. Mutations of both regulatory subunit and catalytic subunit of PI3K have been demonstrated in colon cancers. In the present study, we show that heterozygous disruption of the phosphatase and tensin homolog (PTEN) tumor suppressor gene promoted tumor progression in APC(min/+) mice. Number and size of intestinal tumors were significantly increased in mice bearing both adenomatous polyposis coli (APC) and PTEN mutations. While APC(min/+)PTEN(+/+) mice developed adenomas, invasive carcinomas developed in APC(min/+)PTEN(+/-) mice. Large tumors often resulted in intestinal intussusception and early death of APC(min/+)PTEN(+/-) mice. Targeted array revealed that osteopontin (OPN) was the leading gene whose expression was strongly induced by deficiency of PTEN. In colon cancer cells, gain-of-function mutation of PI3K robustly increased levels of OPN and treatment with OPN reduced growth factor deprivation-induced programmed cell death. Moreover, OPN expression was strongly increased in Ras-induced transformation of intestinal epithelial cells in a PI3K-dependent manner. Inhibition of OPN expression by specific small interfering RNA reduced uncontrolled growth and invasiveness of Ras-transformed intestinal epithelial cells. Thus, our results suggest that the PI3K pathway promotes the transformation of intestinal adenoma to adenocarcinoma. OPN, a downstream effector of PI3K, protects transformed intestinal epithelial cells from programmed cell death and stimulates their anchorage-independent growth.
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PMID:Heterozygous disruption of the PTEN promotes intestinal neoplasia in APCmin/+ mouse: roles of osteopontin. 1769 63

We report a case of cecoanal intussusception caused by cecum cancer in a 29-year-old woman. The patient presented to our hospital with a mass protruding from the anus. We manually pushed the mass back into the rectum and performed a gastrograffin enema, which showed a cup-shaped filling defect in the rectum. The defect was moved back to oral side with the pressure of the enema, revealing a tumor originating in the cecum. Colonoscopy showed a protrusion, 5 x 3 cm in size, in the cecum. Laparotomy confirmed that the tumor originated at the bottom of the appendix in the cecum. We performed partial resection of the cecum containing the tumor and appendix. The pathological finding was submucosal adenocarcinoma in adenoma. Cecoanal intussusception is extremely rare and, to our knowledge, this adult case represents the first report documented in the world scientific literature.
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PMID:Adult cecoanal intussusception caused by cecum cancer: report of a case. 1771 38

Rectal prolapse as the initial clinical manifestation of colorectal cancer is uncommon. We describe the case of a 75-year-old woman who was diagnosed as having adenocarcinoma of the sigmoid colon after presenting with complete rectal prolapse. The tumor caused rectosigmoid intussusception and then it prolapsed out through the anus. She underwent rectosigmoidectomy and rectopexy. The postoperative course was uneventful. The relationship between colorectal cancer and rectal prolapse has not been clearly established. This case report describes an unusual presentation of colorectal cancer. It suggests that rectal prolapse can present as the initial symptom of colorectal cancer and may also be a presenting feature of the occult intra-abdominal pathology. The importance of adequate investigation such as colonoscopy should be emphasized in patients who develop a new onset of rectal prolapse.
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PMID:Rectal prolapse as initial clinical manifestation of colon cancer. 1839 53

The Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous polyposis of the gastro-intestinal (GI) tract, with mucocutaneous pigmentation. We have experienced a case of a 10-year-old girl who presented with PJS, intussusception, colonic perforation and colonic adenocarcinoma. Finally, this case developed airway obstruction from the mediastinal mass. In order to prevent cancer and short bowel syndrome, aggressive screening is recommended.
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PMID:Peutz-jeghers syndrome and colon cancer in a 10-year-old girl: implications for when and how to start screening? 1843 97

A 90-year-old woman was admitted to our hospital because of dizziness, without any remarkable abdominal symptoms. Severe anemia was found and thus gastrointestinal investigations were performed. CT and ultrasonography showed the specific multiplex layer configuration at the anal side of the descending colon. Colonoscopy showed a round tumor occupying the lumen and a consecutive gastrografin enema showed a crab-claw-like area without filling in the descending colon. Intussusception of the colon was diagnosed and partial resection of the descending colon was performed, but without relief of intussusception. The tumor was histologically diagnosed as mucinous adenocarcinoma. By various factors, incomplete fixation between the retroperitoneum and the descending colon might result in the present condition.
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PMID:[A case of intussusception caused by descending colon cancer in a very elderly patient, lacking in abdominal symptoms]. 1860 49

Familial polyposis coli is a heterogeneous disease with a broad spectrum of clinical manifestations including not only multiple polyposis of the small bowel, but also multiple primary tumours, such as carcinoma of the ampulla of Vater, subcutaneous tumours, bone tumours, central nervous system tumous and gynaecological malignancies. This report is of two brothers with familial polyposis, each showing peculiar distinctive features. In one case, polyposis was diagnosed during emergency surgery for ileo-colic intussusception. The patient later developed a tumour of the uterine cervix. Polyposis coli was identified late in the second patient who showed an evolution towards colonic adenocarcinoma with multiple hepatic metastases. The possible association of familial polyposis and extracolonic malignancies has already been emphasized in the literature. In this report we wish to stress the advisability of periodic gynaecological check-ups in affected patients.
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PMID:[Familial polyposis coli associated with carcinoma of the uterine cervix]. 1870 73

We report an unusual case of a postmenopausal woman that was diagnosed with multiple tumours derived from different embryogenic tissues. She presented with postmenopausal vaginal bleeding. Clinical examination revealed a large pelvic mass, tender on palpation. Serum CA-125 level was elevated at 8,985 kU/l (normal range 0-35). A CT scan showed a malignant-appearing right ovarian mass with a peritoneal nodule, small amount of free fluid in the pelvis and evidence of a colonic intussusception. The patient underwent total abdominal hysterectomy, bilateral salpingo-ophorectomy, partial omentectomy and right hemicolectomy with side-to-side anastomosis. Histopathology showed a Grade 3 endometrial adenocarcinoma. Both ovaries were completely replaced by partially necrotic poorly differentiated endometrioid adenocarcinoma. Small deposits of metastatic adenocarcinoma were seen within the omentum. Sections from the retroperitoneal mass showed a low-grade liposarcoma. A large polypoid tumour within the right colon was a tubulo-villous adenoma.
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PMID:Synchronous diagnosis of multiple tumours in a postmenopausal woman. 1919 63

Isolated metastases to the small intestine are rare, but are known to originate from malignant melanoma, or breast or lung cancer. To our knowledge, this is the first reported case of metastases from primary esophageal adenocarcinoma presenting as subacute small bowel obstruction due to ileocecal intussusception. Physicians should consider palliative resection and anastomosis or a bypass procedure in patients with intestinal obstruction.
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PMID:Ileocecal intussusception due to isolated metastasis from primary esophageal adenocarcinoma. 1927 17


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