Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030305 (pancreatitis)
 16,014 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4 1/2 year old boy without previous neurologic disorders developed chronic hemorrhagic pancreatitis and was shown to have polyposis of the gallbladder. Neurologic symptoms emerged at the age of 5 years. The sonographic pattern of an echogenic gallbladder was suspect of metachromatic leukodystrophy. The definitive diagnosis was made by the findings of very low arylsulfatase A activity in the white blood cells and deposits of sulfatides in the stroma of the polyps of the gallbladder.
 ...
PMID:[Chronic hemorrhagic pancreatitis in gallbladder polyposis as an initial symptom of metachromatic leukodystrophy]. 287 6

Patients with familial polyposis coli or Gardner's syndrome are at risk for a variety of extracolonic manifestations. In a series of patients followed at the University of Washington, we have found several recurring and unusual manifestations, including upper gastrointestinal polyposis, small bowel obstruction secondary to desmoid tumors or adhesions, recurring pancreatitis, and adenoma of the papilla of Vater. In one family with familial polyposis only, a set of twins had different manifestations; one twin had familial polyposis only, whereas the second had classic extracolonic manifestations of Gardner's syndrome. Multiple rectal adenomas developed in a woman with an ileorectal anastomosis with each of three pregnancies. Spontaneous regression occurred after each delivery. Multiple rectal adenomas developed in her daughter on two occasions while taking birth control pills. Physicians caring for these patients should look for such manifestations.
 ...
PMID:Unfamiliar aspects of familial polyposis coli. 372 22

The majority of patients with Gardner's syndrome and familial polyposis coli develop duodenal adenomatous polyps. Duodenal cancer sometimes arises in this setting, but nonmalignant problems from duodenal polyps have not been described. This report presents a patient with Gardner's syndrome who developed hemorrhagic pancreatitis and was found to have a villous adenoma encasing the pancreatic duct at the duodenal papilla. The case is important because it suggests that patients with polyposis coli may be at risk for significant nonmalignant problems from duodenal polyps, particularly if polyps exhibit villous histology and occur at the duodenal papilla.
 ...
PMID:Villous adenoma of the duodenal papilla presenting as necrotizing pancreatitis in a patient with Gardner's syndrome. 379 88

A child with a malignant undifferentiated adrenal medullary tumor of neural crest origin, removed at six months of age, was treated with chemotherapy and is alive without evidence of cancer after seven years. He developed osteomas of the skull, a thyroglossal cyst and has had one episode of gastrointestinal bleeding. A three-generation history of multiple colonic polyposis and colon cancer, osteomas, recurrent pancreatitis, and Wilms' tumor was elicited. One of three females in this family, with direct lineage from polyposis afflicted fathers, exhibited Gardner's Syndrome and Wilms' tumor. The constellation of tumors afflicting this family may represent an underlying defect of excessive cell proliferation affecting mesenchymal and neuroblastic tissue. These may be extracolonic conditions associated with Gardner's Syndrome.
 ...
PMID:Pre-Gardner's syndrome, thyroglossal cysts and undifferentiated tumor of neural crest origin. 648 28

Peutz-Jeghers syndrome is characterized by hamartomatous polyposis of the small and large bowel and mucocutaneous pigmentation. The authors describe a 9-year-old girl with small bowel obstruction related to duodenal intussusception caused by polyposis in the fourth portion of the duodenum. Operative reduction of the intussusception and excision of the polyps were performed, at which time the pancreas appeared to have mild pancreatitis. A liver biopsy specimen showed mild portal fibrosis and ductal proliferation. The patient did well postoperatively, but later presented with symptoms consistent with biliary obstruction. Percutaneous transhepatic cholangiography showed pancreatic and biliary duct dilatation as well as obstruction of the common bile duct, which extended into the left upper quadrant. Exploration showed ampullary obstruction several centimeters proximal to the line of resection. Sphincteroplasty was performed. The postoperative course was uncomplicated. The authors conclude that Peutz-Jeghers syndrome with polyps in the duodenum can markedly distort duodenal and ductal anatomy and can lead to ampullary obstruction.
 ...
PMID:Common bile duct obstruction related to intestinal polyposis in a child with Peutz-Jeghers syndrome. 787 37

We report a case of pancreatitis as the first symptom of cystic fibrosis in a 22-year-old woman. The diagnosis was suspected upon the history of nasal polyposis and severe episodes of respiratory infections in infancy. The diagnosis was confirmed by sweat test. Genotyping showed a compound heterozygosity for mutations delta F508 and 5T. Acute pancreatitis is a rare manifestation of cystic fibrosis and an exceptional mode of initial presentation of the disease. It occurs in pancreatic sufficient patients, especially in young adults. This exceptional case shows that cystic fibrosis should be suspected in each case of idiopathic pancreatitis. Indications of cholecystectomy in patients with associated gallbladder lithiasis is discussed.
 ...
PMID:[Acute pancreatitis revealing cystic fibrosis in an adult]. 1053 46

Premalignant conditions of the pancreas include benign tumours of the pancreas, intraepithelial neoplasia arising within pancreatic ducts, and tumours of the neuroendocrine cells of the pancreas. In addition, there is a variety of rare genetic conditions that predispose to pancreatic exocrine malignancies such as Peutz-Jeghers syndrome, hereditary non-polyposis colorectal cancer syndrome, familial pancreatitis, germline BRCA2 mutations, and pancreatic endocrine malignancies such as type 1 neurofibromatosis (von Recklinghausen's disease) and multiple endocrine neoplasia type 1. More controversial is the concept of chronic pancreatitis and diabetes mellitus as conditions that increase the risk of pancreatic cancer. However, there is no doubt that smoking is a potentiating factor for pancreatic cancer, especially in people who have familial/genetic risk factors. This review will include the recently proposed new nomenclature and classification system for intraepithelial neoplasia in the pancreatic ducts, an overview of the various familial syndromes that are associated with an increased risk of pancreatic tumours, the surveillance programmes that have been introduced to monitor such families, and methods for early diagnosis.
 ...
PMID:Premalignant conditions of the pancreas. 1255 88

The dismal prognosis of ductal pancreatic adenocarcinoma is mainly attributable to advanced tumor stages at the time of diagnosis. Meanwhile, familial pancreatic cancer is an established hereditary tumor entity that is responsible for approximately 3% of pancreatic cancer (PC) cases. Therefore, analysis of the family history may help to identify individuals at increased risk of developing PC. These include members of families with a history of PC as well as those of families with distinct hereditary cancer syndromes such as Peutz-Jeghers syndrome, hereditary pancreatitis, familial atypical multiple mole melanoma syndrome, hereditary breast and ovarian cancer syndrome and hereditary non-polyposis colorectal cancer. In future, the identification of germline mutations in genes predisposing to PC, together with the analysis of exogenous risk factors, could be used for a more precise risk assessment for the development of PC. This may allow the application of invasive screening methods for the identification of early PC or, even better, its precursor lesions in high-risk individuals, providing the option of timely curative pancreatectomy.
 ...
PMID:Familial pancreatic cancer. 1513 9

Duodenal adenocarcinoma remains the leading cause of cancer death in familial adenomatous polyposis patients following colectomy. Stratification based on Spigelman's criteria provides a means for determining therapy. Spigelman stage IV patients have been selected for pancreas-sparing duodenectomy. Twenty-one patients underwent resection between 1992 and 2004, with a mean age of 58 +/- 11 years. The mean time from colectomy to duodenectomy was 27 +/- 13 years. Invasive cancer was found in the distal duodenum in one patient. Operative time averaged 327 +/- 61 minutes with a mean blood loss of 503 +/- 266 ml. There was no mortality, and eight patients (38%) had 14 complications: six (29%) with delayed gastric emptying, four (19%) with biliary/pancreatic anastomotic leak, one with pancreatitis, and one with wound infection. There were two reoperations: one for delayed gastric emptying and one for an early biliary leak. Mean length of stay was 15 +/- 10 days. Two late complications occurred: a stomal ulcer and an intestinal obstruction at 48 and 24 months, respectively. Mean follow-up was 79 months (range, 3-152 months). Two patients developed polyps in the advanced jejunal limb and were endoscopically treated. Pancreas-sparing duodenectomy represents a definitive treatment for advanced duodenal polyposis and can obviate the need for pancreaticoduodenectomy.
 ...
PMID:Pancreas-sparing duodenectomy is effective management for familial adenomatous polyposis. 1626 79

The clinical characteristics of atypical CF are: symptoms that may start in infancy but the disease become clinically significant only after 10 years of age, survival into adulthood, chronic sinopulmonary disease, pancreatic sufficiency, and sweat chloride <60 meq/L. Other patients may present with single organ involvement such as CBAVD, biliary cirrhosis and portal hypertension, chronic or recurrent pancreatitis, giant nasal polyposis or hypochloremic alkalosis. It is recommended to refer such patients for CFTR genotyping, however, absence of known common mutation does not rule out CFTR associated disease, since mutations causing atypical CF are rare and whole genome scan is required for their identification. Nasal PD measurements may be helpful to establish the diagnosis of these patients; however, measurements might be also atypical. Several explanations have been suggested to explain the atypical CF disease.
 ...
PMID:Atypical CF and CF related diseases. 1679 44


1 2 Next >>