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 17-year-old woman manifested fever, abdominal pain, headache, and hypertension caused by a solitary, benign pheochromocytoma. She also had hypercalcemia and elevated plasma immunoreactive calcitonin levels. After removal of the pheochromocytoma, calcium and calcitonin levels returned to normal. Studies of peripheral and tumor venous blood showed no excess or ectopic parathyroid hormone secretion, but the tumor contained and secreted calcitonin. Sporadic pheochromocytoma may secrete calcitonin and cause hypercalcemia by non-parathyroid hormone-mediated mechanisms. The potential is clearly present for confusion with multiple endocrine neoplasia, type 2 (medullary thyroid carcinoma, pheochromocytoma, and primary hyperparathyroidism).
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PMID:Pheochromocytoma associated with hypercalcemia and ectopic secretion of calcitonin. 46 64

Alimentary tract manifestations were found in all of 17 patients with multiple endocrine neoplasia, type 2b. The manifestations are important because (1) they were chronic, (2) they were severe and led to abdominal operation in 5 patients, (3) they antedated detection of the endocrine neoplasms in the syndrome in 16 patients (94%), and (4) they provided clinical clues that stimulated search for thyroidal C-cell and adrenal medullary disease in 6 patients. The alimentary tract manifestations were diverse: symptoms included constipation, diarrhea, difficulty with feeding, projectile vomiting, crampy abdominal pain, and loud borborygmi; findings included thickened lips, nodules on the anterior third of the tongue, abdominal distention, visible peristaltic waves, and roentgenographic evidence of megacolon or diverticulosis of the colon or of dilatation of the small intestine and stomach. Initial misinterpretation or failure to realize the significance of one or more of these alimentary tract manifestations led to suspicion of aganglionic megacolon (three patients), malabsorption syndrome (two patients), and tracheal ring (one patient).
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PMID:Alimentary tract manifestations of multiple endocrine neoplasia, type 2b. 89 96

In 1947, a patient with metastatic islet cell tumor was treated for intractable ulcer disease at the University of Chicago Medical Center. Eight years later, in retrospect, it was recognized that he and another patient had the Zollinger-Ellison syndrome (ZE). From 1947 until the present, 30 patients with the ZE syndrome have been treated at this institution. Twenty-one (70%) were male and 9 (30%) were female. Their ages ranged from 24 to 76 years. Most (79%) had abdominal pain, however, melena (42%), hematemesis (33%), and severe diarrhea (35%) were prominent as well. Symptoms were present for a mean of 5.8 years before diagnosis. Over their entire clinical course, duodenal ulcers occurred in 96% of patients, gastric ulcers in 24%, jejunal ulcers in 29%, esophageal ulcers in 6%, and stomal ulcerations in 58%. Eleven (38%) of all gastrinomas were proved to occur in the duodenum; 10 (34%) were pancreatic in origin, including 3 with the MEN I syndrome; 3 (10%) were extrapancreatic and extraduodenal in origin, and no tumor was found in 5 (17%). Each of the 3 patients with MEN I developed a proven pancreatic islet cell carcinoma with metastases as well as hyperparathyroidism and a pituitary lesion. Of 27 patients who were explored for gastrinoma, tumor was found in 20 (74%). Excluding patients with MEN who had multiple lesions throughout the pancreas, all tumors were found in the "gastrinoma triangle." Total gastrectomy was performed in 10 (37%) of 27 of all patients who were explored, in 5 (71%) of 7 when no tumor was found, and in only 5 (25%) of 20 when tumor was present. Operative mortality was 15% (4 of 27) but no death has occurred since 1974. Long-term survival has followed both tumor resection or total gastrectomy in selected individuals (including 1 patient with known multiple liver metastases who is alive 18 years after liver biopsy and total gastrectomy); however, since malignant gastrinomas were present in 46% of all patients (or 57% in whom tumor was found) and since local metastases can sometimes be removed, we favor an aggressive approach to localization and resection when liver metastases or other distant metastases are not found. Duodenal gastrinomas are particularly favorable for resection for cure. They were malignant in only 36% and their metastases were nodal in each of 4 cases. The major problem is finding them since they are often small and "occult."(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Gastrinomas: a 42-year experience. 236 40

Twenty-six children aged from 1 day to 15 years (18 boys and 8 girls) with visceral neuropathies are analyzed. Clinical symptomatology is dominated by abdominal distension, attacks of occlusion, abdominal pain, and malnutrition. Intestine bacterial overgrowth is frequent. From aspiration biopsies, surgical rectal biopsies, and, in some cases, ileal or ileocolic biopsies, histopathological studies revealed two patterns. One group had abnormalities of the myenteric plexus identified by conventional light microscopic studies, with two patterns: [myenteric plexus hyperplasia (9 patients), characterized by large ganglionic nodes, penetration into the mucosal zone, and altered argyrophilic neurons]. Clinically this pattern was observed in four patients with multiple endocrine neoplasia syndrome with risk of medullary thyroid carcinoma. The second pattern observed was characterized by glial cell hyperplasia (15 patients). Ganglion cells are present but are small and sparse, often infiltrated by collagen tissue; Schwann nerve fibers are hypertrophic. Eleven patients presented with neonatal intestinal obstruction. The second group is characterized by normal conventional light microscopic examination, but silver stains revealed important abnormalities of argyrophobic cells (one case) or argyrophilic cells (one case). In the two groups, most of the patients needed intestinal derivation and prolonged nutritional support with total parenteral nutrition.
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PMID:Visceral neuropathies responsible for chronic intestinal pseudo-obstruction syndrome in pediatric practice: analysis of 26 cases. 239 57

To define the course of malignant pancreatic islet cell tumors, 20 patients seen over 14 years with these neoplasms were reviewed. The 12 men and 8 women ranged in age from 22 to 76 years, with a mean of 52. Seven functional tumors included three insulinomas, two glucagonomas, one gastrinoma, and one somatostatinoma. One insulinoma was associated with a multiple endocrine neoplasia type I (MEN-I) syndrome. The 13 patients with nonfunctioning tumors had abdominal pain (3), jaundice (2), and steatorrhea (2). Seven had a palpable abdominal mass. Diagnosis of malignancy was based on local invasion (4), distant metastases (15), or both (1). One patient had percutaneous biopsy of a hepatic metastasis. All others had laparotomy for diagnosis and/or treatment. Each patient had a single tumor except the patient with MEN-I syndromes, who had multiple tumors throughout the pancreas. The head was involved in seven patients, the body in seven, and the tail in five. Operations included six curative and three palliative resections, five biliary diversions (two with concomitant enteric bypass), and five biopsies. Palliative resections were done for hormonal or local symptoms such as gastrointestinal (GI) bleeding and pain. Multiple chemotherapeutic agents were used, but the best results were obtained with DTIC (50% response). Four patients had radiation for liver, brain, or bone metastasis, with some improvement. Of five patients who had curative resections, four are alive 15 to 144 months, with a mean of 75 months. One died six years after diagnosis. Of the remaining 15 patients who had liver metastasis, seven patients are alive 8 to 168 months later, with a mean of 87 months.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Islet cell carcinoma of the pancreas. 254 52

Thirty-two histopathologically confirmed pheochromocytomas were diagnosed at Henry Ford Hospital, Detroit, between 1951 and 1982. Eleven (34%) of these cases were clinically unsuspected exhibiting none of the typical symptoms of palpitation, diaphoresis, or headache, and only five were hypertensive. These pheochromocytomas may be discovered during computed tomography of the abdomen while evaluating multiple endocrine neoplasia, abdominal pain, and abdominal masses, or they may present at autopsy, at surgery, or as a mass lesion without paroxysmal symptoms or hypertension. Before 1962, 53% of these tumors were undiagnosed before surgery or autopsy; however, since 1962 only 18% of pheochromocytomas have remained clinically unsuspected. By maintaining a higher index of suspicion and using newer biochemical and imaging techniques, the incidence of clinically unsuspected pheochromocytomas should be reduced.
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PMID:Clinically unsuspected pheochromocytomas. Experience at Henry Ford Hospital and a review of the literature. 394 65

Eight patients with pancreatic polypeptide (PP)-producing islet cell tumors and one patient with pseudo-PP-producing tumors were examined. Their age range was 20 to 74 years. Clinical features included abdominal pain in four patients, weight loss in four patients, diarrhea in two patients, gastrointestinal bleeding in two patients, and jaundice in one patient. The range of the basal serum level of PP was 394 to 35,100 pg/mL. In two patients the PP-producing tumors were associated with multiple endocrine neoplasia. Two patients had diffuse hepatic metastases at the time of diagnosis and four patients had disease limited to the pancreas. Pancreaticoduodenectomy and 80% pancreatectomy were performed in four and two patients, respectively. Immunohistochemical staining was positive for PP and neuron-specific enolase in all cases and was negative for other peptides except in one specimen with microadenomatosis. Patients who underwent curative resection are asymptomatic with normal serum levels of PP.
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PMID:Pancreatic polypeptide-producing tumors. Silent lesions of the pancreas? 614 48

Two family groups with familial carcinoid tumours with metastases are presented. These are the fourth and fifth family groups to be reported which do not occur within the setting of the multiple endocrine neoplasia (MEN) syndrome. Relatives of patients with carcinoid tumours having persistent vague abdominal pain or gastrointestinal symptoms should be investigated.
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PMID:Familial occurrence in carcinoid tumours. 657 48

A 44-year-old women was treated for hyperparathyroidism resulting from parathyroid hyperplasia. Several months later, following a flu-like episode, she developed fever, confusion, abdominal pain, and diffuse petechiae, with severe thrombocytopenia and hemolytic anemia. She died on the 11th day of hospitalization. At autopsy she had multiple endocrine neoplasia type I, with two islet cell tumors, adrenal adenoma, pituitary adenoma, and bronchial carcinoid with liver metastasis. Florid visceral microthrombi involved arterioles and capillaries of the heart, including the conduction system. Brain, kidney, pancreas, adrenal, and portal areas of the liver were also heavily involved, but thrombi were rare in the liver sinusoids and the lungs. PAS-positive subendothelial deposits were demonstrated. In spite of the disseminated malignancy, the morphologic and laboratory findings were inconsistent with disseminated intravascular coagulation (DIC), and supported the clinical diagnosis of TTP. To the best of our knowledge this is the first report association of TTP with MEN and raises the question of a genetic linkage and/or hormonal interaction.
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PMID:Fatal thrombotic thrombocytopenic purpura (TTP) presenting concurrently with metastatic multiple endocrine neoplasia (MEN) type I. 887 34

A case of intestinal ganglioneuromatosis is reported. The symptoms were watery diarrhoea and abdominal pain of several months duration. Endoscopic examination of the oesophagus, ventricle, duodenum, colon and rectum was normal. Mucosal biopsies from colon and rectum revealed ganglia cells and thin nerve fibres in the lamina mucosa, giving the diagnosis ganglioneuromatosis. As a consequence of the diagnosis thyroid scintigraphy, CT-scanning of the thyroid and adrenal glands and measurement of serum calcitonin and gastrin were performed. The tests revealed an intrathoracic nodular struma, and beyond this no abnormalities. The relation of intestinal ganglioneuromatosis to Multiple Endocrine Neoplasia type II b is discussed and the necessity of performing mucosal-biopsy from endoscopically normal colonic mucosa in cases of chronic diarrhoea is emphasised.
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PMID:[Intestinal ganglioneuromatosis--a rare cause of chronic diarrhea]. 985 Jun 21


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