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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Authors recite the records of a patient (26) with a 3-year history of dubious abdominal complaints and subileus resulting in numerous examinations and surgical observations, with the diagnosis of lower abdominal pain of unknown origin. He was acutely admitted to the department of surgery because of haemorrhage ex ano and convulsive left abdominal pain. Image creative examinations revealed ileus of a probable invagination origin. Partial resection of the transverse colon with "end to end" anastomosis was performed. Histology verified Peutz-Jeghers syndrome. The authors draw attention to the fact that although invaginations are rare above 18 years, when verified preoperatively, elective procedures can be carried out with lower risk to the patient.
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PMID:[Rare case of duplex colon invagination]. 1720 50

Ovarian sex cord tumor with annular tubules is a very rare tumor . Afourteen year old Nepali girl presented with abdominal distension and lower abdominal pain. On laparotomy bilateral ovarian masses were found. It was totally solid on the right side and was partially solid and partially cystic on the left side. The patient had no other symptoms and features of Peutz-Jeghers syndrome. Microscopic examination showed characteristic findings of sex cord tumor with annular tubules on both sides. The patient was doing well 2 months after surgery. The case is presented with review of literature because of the rare clinical presentation.
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PMID:Bilateral sex cord tumor with annular tubules of ovary without Peutz-Jeghers syndrome: a case report. 1788 91

Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches of brown or almost black pigmentation 1 to 5 mm diameter, irregularly distributed over the oral mucosa, gums, hard palate and lips (especially the lower) are observed. The pigmented maculae on the face, encountered especially around the nose and mouth are smaller. Polyps may appear in the stomach, small bowel or colon, with hamartomatous aspects on histology. Acute upper gastrointestinal bleeding and chronic fecal blood loss may appear during the course of disease. There is a higher risk of intestinal and extraintestinal cancers in those patients. We present the case of an 18-year-old young girl accusing since the age of 3 slight intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron-deficiency anemia. Physical examination revealed pigmented lesions suggesting PSJ on the palatine and jugal mucosa while endoscopy found a lot of polyps in stomach and a few, isolated in the colon, all having the same hamartomatous pattern. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips, buccal mucosa and perioral skin, should alert the clinician to PJS.
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PMID:Peutz-Jeghers syndrome: case report and literature review. 1851 33

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

A solitary duodenal hamartomatous polyp is rare and it is considered to be either a variant of Peutz-Jeghers syndrome (PJS) or a separate entity. Patients do not have cutaneous manifestations and have only one hamartomatous polyp. The presentation is nonspecific and it resembles common conditions, such as a peptic ulcer disease. Most are incidentally diagnosed during endoscopy for other indications. Malignant transformation has been reported. This report describes the case of a 46-year-old man who presented with chronic intermittent abdominal pain. The initial endoscopy showed an abnormal twisting of the duodenum with a dilated duodenum. He was later diagnosed to have a solitary duodenal hamartomatous polyp with malignant transformation, which was treated by surgery. A review of the literature on the pertinent cases of this type of lesion is also presented.
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PMID:Solitary duodenal hamartomatous polyp with malignant transformation: report of a case. 1946 11

Familial adenomatous polyposis (FAP) is characterized by the development of many tens to thousands of adenomas in the rectum and colon during the second decade of life. FAP has an incidence at birth of about 1/8,300, it manifests equally in both sexes, and accounts for less than 1% of colorectal cancer (CRC) cases. In the European Union, prevalence has been estimated at 1/11,300-37,600. Most patients are asymptomatic for years until the adenomas are large and numerous, and cause rectal bleeding or even anemia, or cancer develops. Generally, cancers start to develop a decade after the appearance of the polyps. Nonspecific symptoms may include constipation or diarrhea, abdominal pain, palpable abdominal masses and weight loss. FAP may present with some extraintestinal manifestations such as osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system). A less aggressive variant of FAP, attenuated FAP (AFAP), is characterized by fewer colorectal adenomatous polyps (usually 10 to 100), later age of adenoma appearance and a lower cancer risk. Some lesions (skull and mandible osteomas, dental abnormalities, and fibromas on the scalp, shoulders, arms and back) are indicative of the Gardner variant of FAP. Classic FAP is inherited in an autosomal dominant manner and results from a germline mutation in the adenomatous polyposis (APC) gene. Most patients (~70%) have a family history of colorectal polyps and cancer. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition, MUTYH-associated polyposis (MAP), which is characterized by a slightly increased risk of developing CRC and polyps/adenomas in both the upper and lower gastrointestinal tract. Diagnosis is based on a suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling), and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome). Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform). Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.
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PMID:Familial adenomatous polyposis. 1982 6

Pure Sertoli cell tumor (SCT) is a rare sex cord tumor and a subtype of Sertoli-Leydig cell tumors according to the WHO Classification. They lack a Leydig cell component and do not contain the immature neoplastic stroma found in the neoplasms of the Sertoli-Leydig cell category. The age of the patients ranges between two and 79 years. Sertoli cell tumors occur in women of reproductive age but a few can also occur in children. The most common clinical presentation when occurring in children is isosexual pseudoprecocity. Women of reproductive age and postmenopausal women frequently present with abdominal pain, swelling and menstrual abnormalities. Occasionally SCTs occur in patients who have Peutz-Jeghers syndrome. The tumors are hormone functional in 40-60% of cases. They are often estrogenic, occasionally also androgenic or rarely both. Grossly they are usually yellow to brownish, solid or with several cystic areas. Microscopically they show always almost a tubular growth pattern, but they may also have other growth patterns which can be extensive, making the correct diagnosis difficult. These histologic patterns may result in SCTs mimicking other ovarian tumors. The immunohistochemical panel which usually includes EMA, inhibin, chromogranine, CD99 and calretinin is often helpful in establishing the diagnosis. Most SCTs are Stage I, unilateral, cytologically bland, and clinically benign, but occasional examples are high stage. About 11% of Stage I tumors have worrisome histologic features that may portend an adverse outcome.
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PMID:Pure Sertoli cell tumor. a case report and review of the literature. 2034 97

Peutz-Jeghers syndrome is a rare hereditary autosomal dominant disease caused by a mutation of the tumor suppressor gene serine/threonine kinase 11 located in chromosome 19p13.3. It is characterized by the presence of extensive mucocutaneous pigmentation, especially of the lips and the occurrence of hamartomatous polyps throughout the gastrointestinal tract. Gastrointestinal hamartomas occur predominantly in the small intestine and can become symptomatic leading usually to intestinal obstruction and abdominal pain.We present a case of recurrent intestinal obstruction caused by small bowel intussusception treated by reduction, enterotomy and polypectomy and followed by intraoperative enteroscopy and endoscopic polypectomy.
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PMID:Recurrent small intestine intussusception in a patient with Peutz-Jeghers syndrome. 2230 Jan 17

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by mucocutaneous melanin pigmentation and gastrointestinal (GI) tract hamartomatous polyps and an increased risk of malignancy. In addition to polyposis, previous studies have reported increased risk of GI and extraGI malignancies in PJS patients, compared with that of the general population. The most common extraintestinal malignancies reported in previous studies are pancreatic, breast, ovarian and testicular cancers.We report the case of a 17-year-old boy who presented with generalized weakness, recurrent sharp abdominal pain and melena, had exploratory laparotomy and ileal resection for ileo-ileal intussusception. Pigmentation of the buccal mucosa was noted. An abdominal computed tomography scan (CT) revealed multiple polyps in small bowel loops. Gastroscopy revealed multiple dimunitive polyps in stomach and pedunculated polyp in duodenum. Colonoscopy revealed multiple colonic polyps. Pathological examination of the polyps confirmed hamartomas with smooth muscle arborization, compatible with Peutz-Jeghers polyps. CT scan guided left para-aortic lymph node biopsy revealed the characteristic features of extra-adrenal para-aortic paraganglioma. Although cases of various GI and extra GI malignancies in PJS patients has been reported, the present case appears to be the first in literature in which the PJS syndrome was associated with asymptomatic extraadrenal para-aortic paraganglioma. Patients with PJS should be treated by endoscopic or surgical resection and need whole-body screening.
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PMID:An incidentally discovered asymptomatic para-aortic paraganglioma with Peutz-Jeghers syndrome. 2315 26

Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disorder, which is characterized by mucocutaneous pigmentations, gastrointestinal polyposis and an increased risk of cancer. It is caused by germline mutations in the LKB1 tumour suppressor gene, as a result of which hamartomatous polyps can develop already at an early age, which may cause various complications, including abdominal pain, anaemia, and acute intestinal obstruction. Patients have an increased risk of developing cancer, in the gastroinstestinal tract and in other organs. As a result of the risk of complications related to the hamartomatous polyps and the increased risk of cancer, the medical management mainly consists of surveillance. Upper and lower endoscopies are recommended for surveillance, the small bowel should be investigated with magnetic resonance imaging and regular inspection of the pancreas with imaging techniques is recommended. Women are advised to seek regular breast- and gynaecological screening from an early age. The pathogenesis of hamartomas and carcinomas is unclear. More insight into the molecular background might lead to targeted medicinal therapies for patients with this syndrome.
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PMID:[Peutz-Jeghers syndrome]. 2341 85


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