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)

Desmoid tumors are rare, less than 0.1% of all tumors (6.2%). The word desmoid has been recognized since 1838, and applied to non-encapsulated tumors, of connective origin and locally infiltrative. Generally, their course is painless and the recurrence rate is high if resection has not been complete. Most of these tumors can be found in different anatomic areas, most commonly the anterior abdominal wall although other sites, intra- or extra-abdominal, have been reported. We describe the case of a 50 year old female patient, with abdominal pain caused by an intraabdominal desmoid tumor.
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PMID:[Diagnostic value of abdominal pain in intra-abdominal desmoid tumor]. 129 90

Desmoid tumors are known to be associated with Gardner syndrome and, when located in the mesentery, can contribute to morbidity and mortality. Computed tomography (CT) was used to evaluate six patients with Gardner syndrome who, after colectomy, complained either of abdominal pain or of palpable masses. In five patients, desmoids of the mesentery, abdominal wall, and paraspinous muscles were diagnosed; four of these were later proven surgically. The sixth case, with both CT and subsequent surgery negative for desmoid lesions, is included to illustrate the ability of CT to replace exploratory surgery in certain instances. CT provides a relatively noninvasive means of assessing and following patients with Gardner syndrome after colectomy and delaying or preventing further surgery or, if necessary, providing a surgical "road map" to optimize unavoidable procedures.
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PMID:Desmoid tumors in Gardner syndrome: use of computed tomography. 660 97

Sclerosing mesenteritis is a rare, idiopathic, and benign mesenteric lesion that is characterized by fat necrosis, fibrosis, and chronic inflammation. We report a case of sclerosing mesenteritis presenting as recurrent abdominal pain in an HIV-positive patient. Because of the wider differential diagnosis in such cases, the patient underwent an extensive workup culminating in a laparoscopy with biopsy. Tamoxifen has been shown to be useful in the treatment of desmoid tumors and idiopathic retroperitoneal fibrosis. We present the first case of sclerosing mesenteritis to respond to tamoxifen therapy. Because this drug is relatively safe and simple to dose, its utility as therapy for patients with this benign but debilitating disease should be considered.
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PMID:Sclerosing mesenteritis: an unusual cause of abdominal pain in an HIV-positive patient. 917 37

Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.
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PMID:Concurrent Pheochromocytoma, Paraganglioma, Papillary Thyroid Carcinoma, and Desmoid Tumor: A Case Report with Analyses at the Molecular Level. 1211 65

Mesenteric cysts are rare lesions, with 1 case per 100,000 hospital admission reported. They have to be differentiated from ovarian cysts, gastrointestinal duplications and desmoid cysts. The symptoms are variable, ranging from asymptomatic cases with incidental discovery to chronic abdominal discomfort and acute abdomen. They are usually correlated to the location and the size of the lesion. Abdominal ultrasonography and computed tomography may lead to a correct diagnosis, which is regularly made at the time of abdominal exploration. Surgery is the treatment of choice, consisting with the removal of the cyst, eventually associated with bowel resection. It has to be radical in order to prevent the recurrence of the disease. A case of mesenteric cyst in a sixty-nine-years-old woman hospitalized for chronic abdominal pain is reported. In this case the cyst has been enucleated from the mesentery with open surgery without the need for bowel resection.
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PMID:Mesenteric cyst neoformation. A case report. 1214 84

Desmoid tumours (DT) are rare benign tumours that do not metastasise, but tend to invade locally. DT are frequently seen in patients with familial adenomatous polyposis (FAP), and diagnosis and treatment are often difficult. Surgical trauma, genetic predisposition and hormonal factors are considered to be correlated with the development and growth of DT. In patients with FAP, 50% of the tumours are localised intra-abdominally, and 85-100% of these are mesenteric. DT frequently present as non- tender, slowly growing masses. The symptoms are abdominal pain, vomiting, diarrhoea or haematochezia. Mesenteric DT can cause small bowel obstruction or ischaemia, hydronephrosis or form fistulas. Diagnosis is obtained through biopsy and the extension is determined by a CT-scan. Surgical excision is recommended in patients with DT in the abdominal wall. First line treatment of mesenteric DT is a NSAID in combination with tamoxifen. Surgery may be considered in case of a small and well-defined DT with no signs of invasion of vital structures, and in cases of imminent bowel ischaemia or obstruction. The prognosis in mesenteric DT is serious, and improvement of the therapeutic strategy awaits current international studies.
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PMID:Desmoid tumour in familial adenomatous polyposis. A review of literature. 1457 7

Familial adenomatous polyposis is a hereditary clinical syndrome characterised by the presence of numerous adenomatous polyps of the colon and rectum and by lesions in other organs. The disease affects various different tissues and characteristically presents a variable biological and clinical behaviour. Colon polyps are precancerous lesions and the certainty of their malignant evolution within the 3rd-4th decades of life is now practically an established, extensively documented fact. Recently, new methods of genetic screening, prevention and early diagnosis and, as a result, more advanced treatment protocols have been introduced in clinical practice, thus offering young patients diagnosed as suffering from familial adenomatous polyposis better prospects and a better quality of life. The patient in our case came in for medical observation for abdominal pain experienced close to the scar of a previous appendectomy and for the presence of an abdominal tumefaction on the same side. Initially the patient underwent surgical resection of the growth that proved to be a desmoid tumour of the abdominal wall. The results of the pathology examination and the patients' long-term disease and family history led to a presumptive diagnosis of familial adenomatous polyposis, which was then confirmed by the appropriate instrumental examinations. Genetic tests on the patient's relatives yielded the same diagnosis in some of them. On the basis of our personal experience and a thorough review of the literature we can safely state that no medical treatment currently available is capable of reducing, let alone definitively eliminating colon polyps. To date, then, the therapeutic options most commonly adopted are colectomy with ileo-rectal anastomosis and total conservative proctocolectomy with an ano-ileal pouch anastomosis. These two types of surgical procedures yield different results in terms of functional capability and oncological radicality with their respective repercussions on the patient's quality of life. The choice of the most appropriate surgical procedure is made on the basis of a series of parameters such as age, site of the polyps, number of polyps, degree of cell atypia of the polyps, and patient willingness to undergo regular check-ups. The current tendency advocated by the various authors is to perform a total colectomy as soon as possible.
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PMID:[Report of a case of Gardner's syndrome: clinical and epidemiologic considerations and review of the literature]. 1458 19

Familial adenomatous polyposis (FAP) is an autosomal dominant, hereditary colon cancer syndrome that is characterized by the presence of innumerable adenomatous polyps in the colon and rectum. Gardner's syndrome is a variant of FAP, which in addition to the colonic polyps, also presents extracolonic manifestations, including desmoid tumors, osteomas, epidermoid cysts, various soft tissue tumors, and a predisposition to thyroid and periampullary cancers. Mutations of the APC gene are thought to be responsible for the development of FAP, and the location of the mutation on the gene is thought to influence the nature of the extracolonic manifestations that a given patient might develop. Though patients are often asymptomatic, bleeding, diarrhea, abdominal pain and mucous discharge frequently occur. Diagnostic tools include genetic testing, endoscopy, and monitoring for extra-intestinal manifestations. Currently, surgery is the only effective means of preventing progression to colorectal carcinoma. Restorative proctocolectomy with ileal pouch anal anastomosis (RPC/IPAA) with mucosectomy is the preferred surgical procedure, since it attempts to eliminate all colorectal mucosa without the need for an ostomy. Periampullary carcinoma and intra-abdominal desmoid tumors are a significant cause of morbidity and mortality in these patients after colectomy. Frequent endoscopy is needed to prevent the former, while there is no definitive treatment available yet for the latter. The following article presents a case and reviews the evaluation, management and treatment of Gardner's syndrome.
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PMID:Familial polyposis coli: clinical manifestations, evaluation, management and treatment. 1559 57

We report a case of a 33-year-old female presenting with right sided abdominal pain, a right iliac fossa mass and right hydronephrosis. The mass was subsequently shown to represent an isolated desmoid tumour compromising the adjacent ureter. The patient had no predisposing factors for this pathology. This is an uncommon occurrence and we discuss the imaging features and differential diagnosis.
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PMID:An unusual case of ureteric obstruction. 1611 Jan 10

We report a 42 years old female that presented with abdominal pain and no palpable mass. Imaging abdominal ultrasound, CAT scan and magnetic resonance showed a solid tumor located in the retroperitoneum. The patient was operated on excising the tumor. Pathological examination of the surgical piece disclosed a retroperitoneal fibromatosis or desmoid tumor. Postoperative evolution of the patient was uneventful and she was discharged 12 days after the surgical procedure.
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PMID:[Retroperitoneal fibromatosis: report of a case]. 1653 67


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