Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021933 (intussusception)
3,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two hundred and twenty-two patients with Peutz-Jeghers syndrome were ascertained in Japan between 1961 and 1974 through two nationwide surveys, medical literature, and personal examinations. Genetic analysis was made of this group as well as 102 follow-up cases. The average age at diagnosis was 23 in males and 26 in females, with male to female ratio of 1:1.13. Presenting complaints of 170 patients included obstruction (42.8 per cent of patients), abdominal pain (23.4 per cent), rectal bleeding (13.5 per cent), extrusion of polyp (7.2 percent). Diagnosis of 52 patients was based on melanin pigmentation. Intussusception occurred in 46.9 per cent of the patients, most often in the small intestine. Polyps occurred in the stomach in 108 patients (48.6 per cent), small intestine, 142 patients (64 per cent), colon, 118 patients (53.2 per cent) and rectum, 71 patients (32 per cent). Among the 222 patients, cancer was histologically verified in 28. Fifteen early cancers occurred (3 gastric, 8 small intestine, 4 colon), and 11 advanced cancers (3 gastric, 1 small intestine, 6 colon, and 1 both colon and small intestine). Mortality was lower than in patients with familial polyposis coli but higher than in the general population. Conservative surgical management, planned medical follow-up, and the need for a national registration system are stressed.
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PMID:Peutz-Jeghers syndrome: its natural course and management. 111 95

Intussusception is a rare condition in adults. In the large intestine, intussusception is most frequently caused by malignant tumours. The case history of a man aged 35 years is presented here. In connection with operation for colo-colic intussusception, familial polyposis was demonstrated. The diagnosis of colo-colic intussusception was established by ultrasonic scanning.
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PMID:[Ultrasonic diagnosis of colonic invagination]. 184 84

The authors present their experience on a case of Peutz-Jeghers syndrome. Initially described in 1921, the association of intestinal polyposis with pigmentation of the skin and mucous membranes has been called the Peutz-Jeghers syndrome; the pigment, which is melanin, usually involves the lips and mouth and at times the face and extremities. The syndrome appears to be a hereditable disease. Polyps may be present in the stomach, small bowel and colon, but are most frequent in the small bowel, where they produce intussusception or bleeding. Our patient, a 35-year-old man, presented abdominal pain and recurrent intestinal bleeding. Our aim was to evidence radiological signs of this syndrome. the radiographic examination of small bowel, showing multiple polyps and signs of intussusception, definitely confirmed the diagnosis. The Authors finally discuss the possibility of other syndromes associated with gastrointestinal polyposis such as familial polyposis, Cronkhite-Canada syndrome, Gardner syndrome etc.
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PMID:[Radiological aspect of Peutz-Jeghers syndrome: considerations on a case]. 621 Oct 21

Juvenile polyps are the most common tumors of the gastrointestinal tract in children and are the principal cause of hematochezia. A total of 103 children and adolescents with intestinal polyps have been treated in Veterans General Hospital-Taipei from March 1961 to March 1994. The diagnosis included 87 cases (84.5%) of juvenile polyps, 2 cases of isolated adenomatous polyp and 14 cases of inherited polyposis syndrome. Juvenile polyps most often occur in children between 2 to 10 years old, with a male-to-female ratio of 1.4:1. Rectal bleeding was the main symptom (97.7%). Of the 87 patients, 82.8% had isolated polyps and 83.3% of those were located in rectosigmoid colon. After extensive use of colonoscopy, the reported incidence of multiple polyps substantially increased, and more polyps were found proximal to the rectosigmoid colon. Most juvenile polyps were removed by colonoscopic polypectomy. The recurrent rate was 10.2%. One of the two cases of juvenile polyposis coli suffered from intussusception demanding partial colectomy. Recurrent polyps were found in the remaining colon and were removed by colonoscopic polypectomy. Seven patients of Peutz-Jeghers syndrome came from five families. At initial diagnosis, one case had no polyps and two presented with intussusception. A 19-year-old girl was found to have bilateral ovarian cysts. One of the three familial adenomatous polyposis had adenocarcinoma at initial evaluation. Two cases of Gardner's syndrome received sulindac treatment, and no evidence of malignancy was found after three years of follow-up.
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PMID:Intestinal polyps in children and adolescents--a review of 103 cases. 761 71

Chemopreventive effects of bovine lactoferrin (bLF), previously shown to strongly inhibit intestinal carcinogenesis in rats (K. Sekine, E. Watanabe, J. Nakamura, N. Takasuka, D.J. Kim, M. Asamoto, V. Krutovskikh, T.H. Baba, T. Ota, M.A. Moore, M. Masuda, H. Sugimoto, H. Nishino, T. Kakizoe, H. Tsuda, Inhibition of azoxymethane-initiated colon tumor by bovine lactoferrin administration in F344 rats, Jpn. J. Cancer Res. 88 (1997) 523-526; K. Sekine, Y. Ushida, T. Kuhara, M. Iigo, H. Baba-Toriyama, M.A. Moore, M. Murakoshi, Y. Satomi, H. Nishino, T. Kakizoe, H. Tsuda, Inhibition of initiation and early stage development of aberrant crypt foci and enhanced natural killer activity in male rats administered bovine lactoferrin concomitantly with azoxymethane, Cancer Lett. 121 (1997) 211-216), on spontaneous intestinal polyp development were assessed in the ApcMin mouse, a model for both familial adenomatous polyposis and sporadic colon cancers. In the experiment, 54 mice at 6 weeks of age were given 2% bLF (15 mice), 0.2% bLF (15 mice) and AIN-93G (24 mice) as basal diet ad libitum for 8 weeks. An overall tendency for a reduction in the total number of polyps in the small intestine was evident in the bLF-treated animals, along with significant suppression in the jejunum at the 2% dose (P < 0.05, 68% of the control). In addition, body growth suppression, presumed to be due to anemia and/or intussusception as a consequence of numerous polyps in the intestine, was alleviated. No toxic effects were observed in the intestinal epithelium. Although not as obvious as observed for the rat case, the data suggest that bLF may be a chemopreventor of intestinal polyposis.
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PMID:Inhibitory effects of bovine lactoferrin on intestinal polyposis in the Apc(Min) mouse. 1002 73

We describe the magnetic resonance (MR) findings in patients with gastrointestinal polyposis syndromes using breath-hold T1-weighted sequences, both standard and with fat suppression, prior to and following gadolinium administration, and breathing-independent single-shot half-Fourier RARE T2-weighted sequences. Six patients with gastrointestinal polyposis syndromes underwent MR examination to investigate for the presence of metastatic disease. The appearances of the gastrointestinal polyps on noncontrast T1-weighted spoiled gradient-echo (SGE), T2-weighted (half-Fourier RARE) images, and early and late gadolinium-enhanced SGE images were determined. Other gastrointestinal findings and extragastrointestinal disease were also evaluated. Patients with the following gastrointestinal polyposis syndromes were included: familial polyposis (n = 3), Peutz-Jeghers syndrome (n = 1), Gardner's syndrome (n = 1), and neurofibromatosis (n = 1). Polypoid lesions in all patients exhibited signal intensity comparable to bowel on noncontrast images and enhanced similar to bowel on early and late gadolinium-enhanced images. Polyps larger than 2 cm, observed in one patient with familial polyposis and the patient with Gardner's disease, showed mild heterogeneity on late gadolinium-enhanced fat-suppressed images. Multiple colonic polyps ranging from 5 mm to 3 cm in diameter were observed in patients with familial adenomatous polyposis. A solitary 1.5 cm polyp associated with entero-enteric intussusception was observed in the patient with Peutz-Jeghers syndrome. Gastric polyps ranging from 5 mm to 6 cm were observed in the stomach of the patient with Gardner's syndrome. Duodenal and jejunal neurofibromas ranging from 1 to 2 cm in diameter were present in the patient with neurofibromatosis. Extra gastrointestinal findings included an adrenal adenoma (1 patient), a pheochromocytoma (1 patient), and liver metastases (2 patients). Gastrointestinal polyps in patients with polyposis syndromes may be visualized on MR images employing breath-hold T1-weighted and breathing-independent snapshot T2-weighted techniques. Appreciation of polyp enhancement on post-gadolinium images is an important finding, which should help distinguish polyps from bowel contents.
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PMID:Polyposis syndromes of the gastrointestinal tract: MR findings. 1067 20

The Peutz-Jeghers syndrome is considered a familial polyposis syndrome. The polyps are of hamartomatous type. The symptomatology is due to the more voluminous polyps which can necrotize, ulcerate, bleed and cause intussusception and intestinal obstruction. A case of ileum-ileal intussusception due to Peutz-Jeghers syndrome is reported. The utility of a genealogic research is underlined and the recent results of the genetic research are evaluated. The surgical therapy of Peutz-Jeghers syndrome can have many aims: 1) to remove all big polyps, 2) to avoid the danger of canceration, 3) to prevent the hemorrhagic or occlusive risks and complications.
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PMID:[Ileal invaginations caused by Peutz-Jeghers polyposis]. 1083 86

Small intestinal neoplasms are uncommonly encountered in clinical practice. They may occur sporadically, in association with genetic diseases (e.g., familial adenomatous polyposis coli or Peutz-Jeghers syndrome), or in association with chronic intestinal inflammatory disorders (e.g., Crohn's disease or celiac sprue). Benign small intestinal tumors (e.g., leiomyoma, lipoma, hamartoma, or desmoid tumor) usually are asymptomatic but may present with intussusception. Primary malignancies of the small intestine-including adenocarcinoma, leiomyosarcoma, carcinoid, and lymphoma-may present with intestinal obstruction, jaundice, bleeding, or pain. Extraintestinal neoplasms may involve the intestine via contiguous spread or peritoneal metastasis. Hematogenous metastases to the intestine from an extraintestinal primary are unusual and are most typical of melanoma. Because the small intestine is relatively inaccessible to routine endoscopy, diagnosis of small intestinal neoplasms is often delayed for months after onset of symptoms. When the diagnosis is suspected, enteroclysis is the most useful imaging study. Small bowel endoscopy (enteroscopy) is increasingly widely available and may permit earlier, nonoperative diagnosis.
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PMID:Small intestinal neoplasms. 1158 39

The diagnosis of a polyposis syndrome, such as juvenile polyposis, Peutz-Jeghers syndrome, and familial adenomatous polyposis, requires knowledge of the site, number, and histologic type of the polyps and an appreciation of relevant family history. Children and adolescents with polyposis syndromes are faced with not only the immediate complications of the polyps, such as intussusception or bleeding, but also the extraintestinal manifestations and the long-term risk for malignancy. This article reviews the diagnosis, clinical management, surveillance, and surgical options for children with polyposis syndromes and discusses genetics and appropriate screening programs.
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PMID:Polyposis syndromes: pediatric implications. 1168 61

Adenomatous polyps of the jejunum/ileum in patients with familial adenomatous polyposis (FAP) are usually small (<5 mm) and are considered to be of little clinical importance. Genetic alterations in these polyps have not previously been analyzed. We herein report an extremely rare case of FAP presenting with intussusception caused by jejunal adenomas. Both somatic and germline mutations of the APC gene were detected in one of the polyps. A 40-year-old man with FAP was admitted for closure of an ileostomy that had been created because of an anastomotic leak after subtotal proctocolectomy with ileo-anal-canal anastomosis. During the follow-up after that surgery, he had occasionally complained of colicky abdominal pain, but it had quickly subsided. At the second laparotomy, for closure of the ileostomy, jejuno-jejunal intussusception was incidentally found, and segmental resection of the jejunum, including the leading point of the intussusception, was performed. There were five polyps clustered in the resected jejunum. Histologically, the polyps, ranging from 5 to 26 mm in diameter, were adenomas with moderate to severe atypia. Genetic examinations of one of the largest polyps, using polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) and direct sequencing methods, revealed somatic (T insertion at codon 1557) and germline mutations (4 base-pair deletion at codons 181-182) of the APC gene. This is the first evidence that the coexistence of somatic and germline alterations in the APC gene is involved in the development of a jejunal adenoma causing small-bowel intussusception.
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PMID:APC gene mutations in a jejunal adenoma causing intussusception in a patient with familial adenomatous polyposis. 1252 39


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