Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old male presented with abdominal pain, diarrhoea and a sensation of something prolapsing through the anus during defecation, and was found to have diffuse colonic polyposis. There was no evidence of mucocutaneous hyperpigmentation and family history was negative, suggesting a diagnosis of non-familial juvenile polyposis. Histological analysis of multiple endoscopic biopsies showed features typical of juvenile or retention type (hamartomatous) lesions: dilated cystic glands lined by mucocus-secreting epithelium and prominent, inflamed and congested lamina propria. However, admixed with these features, focal areas of atypical adenomatous changes were recognized. Even the intervening normal-looking colonic mucosa showed some dysplastic changes. These findings indicate that hamartomatous and atypical adenomatous epithelial changes can co exist in non-familial juvenile polyposis and the latter may confer a risk of malignant transformation in this otherwise non-neoplastic disease.
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PMID:Non-familial juvenile polyposis with histological evidence of adenomatous transformation. 1591 76

Cronkhite-Canada syndrome is a rare, noninherited gastrointestinal polyposis syndrome associated with characteristic ectodermal abnormalities. This report describes a 60-year-old female who was diagnosed with Cronkhite-Canada syndrome with hypothyroidism after presenting with chronic diarrhea, alopecia, intermittent abdominal pain, generalized gastrointestinal polyposis, hyperpigmentation, and nail dystrophy. Endoscopic examination of the stomach and duodenum showed multiple sessile polyps and mucosal erosion associated with evidence of chronic inflammation. Colonoscopy also revealed mucosal edema and diffuse polyposis.
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PMID:Cronkhite-Canada syndrome with hypothyroidism. 1595 20

Peutz-Jeghers syndrome is a rare autosomal dominant polyposis characterized by mucocutaneous pigmentation, intestinal hamartomas and an increased risk mainly for gastrointestinal and gynaecological cancer. Our interest in this syndrome is due to the observation of three cases in the same family, two of whom presented the classic Peutz-Jeghers syndrome, while the other had perioral pigmentation only. Therefore, the main clinical elements emerge in the two first cases presenting with recurrent abdominal pain and sub-occlusion. The condition was managed by a combination of radiological, endoscopic and surgical procedures which enabled us to map and remove several gastrointestinal polyps. On histopathological examination the polyps were mainly hamartomas, though some presented both hamartomatous and adenomatous features, while others, removed endoscopically during the follow-up, were identified as true adenomas with initial carcinomatous changes. Furthermore, in one case follow-up examination allowed the early diagnosis and treatment of a cervical carcinoma. In agreement with the literature, our experience suggests that simple polypectomy, via an endoscopic and/or surgical approach, is the treatment of choice in Peutz-Jeghers syndrome. However, if gangrene due to invagination or neoplastic change occurs, an intestinal resection is mandatory. Cancer surveillance must be the first aim of follow-up.
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PMID:[Peutz-Jeghers syndrome: an account of 3 cases in the same family and a review of the literature]. 1606 Jan 80

A case involving a 31-year-old woman with active ulcerative colitis is described. She suffered symptoms of infraumbilical abdominal pain, severe diarrhea, and low-grade fever that did not improve with conventional treatment, including antidiarrheal drugs and antibiotics. Ulcerative colitis was diagnosed according to endoscopic and histologic findings. She was treated with prednisolone and sulfasalazine, and her symptoms disappeared after 1 month. Sulfasalazine therapy was continued for 3 months, and the patient's condition remained stable for 4 years. Recently, she was admitted with abdominal pain, severe diarrhea, and melena. She was again treated with prednisolone and intravenous hyperalimentation, but her symptoms did not improve. Colonoscopy showed multiple ulcers with bleeding and polyposis and severe edema in the colon. In addition, she had a high blood endotoxin concentration (38.0 pg/ml; normal < 9.8 pg/ml). She underwent polymyxin B-immobilized fiber (PMX-F) hemoperfusion therapy twice. After 2 weeks, her symptoms resolved completely, colonoscopy showed disappearance of the edema, revascularization of the mucosa, and improvement of the ulcers, and blood endotoxin concentration decreased to 5.0 pg/ml. These results suggest that PMX-F treatment may be beneficial for the management of ulcerative colitis with endotoxemia.
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PMID:Polymyxin B-immobilized fiber hemoperfusion in a patient with active ulcerative colitis. 1615 15

Cronkhite-Canada syndrome (CCS), first described in 1955, is a rare clinical syndrome of unknown etiology. CCS is diagnosed clinically, and the presenting symptoms include alopecia, cutaneous hyperpigmentation, gastrointestinal polyposis, and onychodystrophy, often accompanied by diarrhea, weight loss, and abdominal pain. We describe a unique case of CCS that presented with eosinophilic infiltrate on gastric and duodenal biopsies and review the literature pertaining to this rare syndrome.
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PMID:Cronkhite-Canada syndrome presenting as eosinophilic gastroenteritis. 1725 34

The total visualization of the intestinal surface through wireless capsule endoscopy has furnished new insights for the diagnosis of intestinal diseases. The length, difficulty of access and particular morphology of this region makes a correct diagnosis of gastrointestinal diseases associated with bleeding possible only in 5% of cases. Our study was aimed at assessing the clinical impact and diagnostic outcomes of wireless capsule endoscopy through analysis of the first 50 cases observed in our Endoscopy and Coloproctology Unit. Fifty patients aged 23-85 years (mean age: 43.5) were selected for wireless endoscopy. The main indications were patients with a suspected or established diagnosis of inflammatory bowel disease or malabsorption, abdominal pain, chronic diarrhoea and obscure bleeding. Patients with a clinical or radiological diagnosis of gastrointestinal stenosis, Zencker's diverticula, or colonic diverticulosis were excluded from the study. In 2 out of 8 patients with abdominal pain, erosions of the intestinal wall were detected, while in the only patient with gastrointestinal bleeding a neoplastic lesion of the right colon was accidentally diagnosed. As far as inflammatory bowel disease is concerned, in all the cases of established diagnosis of ulcerative colitis no small bowel lesions were visible at wireless endoscopy, while all the cases with silent Crohn's disease of the terminal ileum were confirmed. No cases of neoplastic lesions of the small bowel were recorded in our series either in celiac-disease patients or in patients with familial intestinal polyposis. In celiac-disease patients (N = 24) wireless capsule endoscopy allowed accurate definition of the extent of the mucosal damage. On the basis of our preliminary experience wireless capsule endoscopy would appear to warrant an important role in the management of patients with small bowel diseases, supplementing information obtained with other diagnostic techniques.
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PMID:[The role of capsule endoscopy in the study of intestinal diseases. Critical analysis and observation of the first 50 cases]. 1736 33

Small bowel tumors are difficult to diagnose because of their endoscopic inaccessibility. This has been overcome by the use of the Pillcam SB capsule (Given Imaging, Yoqneam, Israel). The purpose of this report is to describe the largest series of patients with small bowel tumors detected by capsule endoscopy. Eighty six patients were derived from the Given Imaging clinical database on a survey of Pillcam SB capsule users who were diagnosed with 87 small bowel tumors, 1 cecal tumor, and 1 gastric tumor. The population consisted of 55 males and 31 females. 69% of patients were referred for capsule endoscopy for obscure gastrointestinal bleeding (59/86 patients) and 31% (27/86 patients) were referred for other indications including anemia, polyposis, and abdominal pain. All patients have histologically confirmed tumors. Eighty six patients reported 395 previous negative procedures (average of 4.6 per patient). Malignant tumors comprised 61% (54/89) and benign 39% (35/89). Of the 87 reported small bowel tumors, 4 were identified in the duodenum, 43 tumors were identified in the jejunum, 18 tumors were identified in the ileum, and 22 tumors were located in the mid to distal small bowel. The most common malignant tumors were adenocarcinoma, carcinoids, melanomas, lymphomas, and sarcomas. The most common benign tumors were GIST, hemangiomas, hamartomas, adenomas, and granulation tissue polyps. Capsule endoscopy is the diagnostic procedure of choice in patients with suspected small bowel tumors.
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PMID:Small-bowel tumors detected by wireless capsule endoscopy. 1738 Apr 3

Juvenile polyps (JP) are a recognized cause of painless rectal bleeding in preschool age children. They are often solitary, pedunculated and small in size but may occasionally grow to large sizes or occur in great numbers, as in juvenile polyposis syndrome. A nine-year-old previously healthy Hispanic boy with prior history of recurrent abdominal pain and vomiting for 4 months presented with sudden onset of massive painless hematochezia and hemorrhagic shock. Following blood transfusion the bleeding spontaneously stopped. Though further evaluation was delayed due to family reticence, eventually colonoscopy was performed and revealed a giant pedunculated solitary polyp in the traverse colon. After resection, the polyp measured 3.2 x 2.2 x 1.7 cm. Histological evaluation revealed juvenile retention polyp. Giant juvenile polyps (greater than 30 mm) are exceedingly rare in children. Life threatening rectal bleeding due to giant solitary juvenile polyp has rarely been previously reported in children. Spontaneous cessation of bleeding should not delay the endoscopic evaluation. In a child with massive hematochesia, JP should still be considered in the differential diagnosis, as highlighted by this case.
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PMID:Life threatening rectal bleeding due to a giant solitary juvenile polyp in a child. A case report and review of the literature. 1847 11

Early recognition of colorectal cancer (CRC) in young patients without known genetic predisposition is a challenge, and clinicopathologic features at time of presentation are not well described. We conducted the current study to review these features in a large population of patients with young-onset CRC (initial diagnosis at age <or=50 yr without established risk factors). We reviewed the records of all patients aged 50 years or younger diagnosed with a primary CRC at our institution between 1976 and 2002. Patients with inflammatory bowel disease, polyposis syndromes, or a known genetic predisposition for CRC were excluded. Data regarding clinical and pathologic features at time of initial presentation were abstracted by trained personnel. We identified 1025 patients, 585 male. Mean age at presentation was 42.4 years (standard deviation 6.4). Eight hundred eighty-six (86%) patients were symptomatic at time of diagnosis. Clinical features in symptomatic patients included rectal bleeding (51%), change in bowel habits (18%), abdominal pain (32%), weight loss (13%), nausea/vomiting (7%), melena (2%), and other (26%). Evaluation of asymptomatic patients was pursued with findings of anemia (14%), positive fecal occult blood test (7%), abdominal mass (2%), mass on digital rectal exam (2%), and other (80%). Site of primary tumor was colonic in 51% and rectal in 49%. Synchronous malignant lesions were noted in 1%. Mucinous and signet cell histology was seen in 11% and 2%, respectively. Tumor grade distribution was grade 1 (2%), grade 2 (54%), grade 3 (34%), and grade 4 (7%). The stage distribution was stage I (13%), stage II (21%), stage III (32%), and stage IV (34%). To our knowledge, the current study is the largest cohort of young-onset CRC patients with no known genetic predisposition for disease. Most patients were symptomatic, had left-colon or rectal cancers and presented with more advanced stage disease. Our findings should promote increased awareness and the aggressive pursuit of symptoms in otherwise young, low-risk patients, as these symptoms may represent an underlying colorectal malignancy.
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PMID:Young-onset colorectal cancer in patients with no known genetic predisposition: can we increase early recognition and improve outcome? 1879 8

Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered. Using a case-based format, this article reviews the clinical features and provides updates on the three most common hamartomatous polyp syndromes of childhood: juvenile polyposis syndrome, Peutz-Jeghers syndrome, and the PTEN hamartoma tumor syndrome. Each syndrome has distinctive intestinal and extra-intestinal findings that, when present, can guide genetic counseling and testing. Lifelong cancer surveillance is crucial to disease prevention and the long-term health of these patients and their families.
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PMID:Pediatric juvenile polyposis syndromes: an update. 1946 21


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