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Results for “Intestinal Polyposis”

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At least 217 records · Page 12Linked to original sources
PubMed2002

An unusual case of genodermatosis with familial gastrointestinal polyposis, angiomatous malformation and ascites.

Gardner's syndrome is a familial adenomatous polyposis syndrome with extraintestinal manifestations, characterized by the coexistence of intestinal polyposis with an early risk of malignant degeneration and extraintestinal manifestations mainly involving the skin, eye, bone and thyroid. We describe an unusual case of intestinal adenomatous polyposis, retinal hypertrophy, fibromas of the skin, bone and thyroid tumors accompanied by congenital arteriovenous malformations with lethal complications.

Arteriovenous Fistula↗
PubMed2005

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

Juvenile polyposis syndrome is a hamartomatous intestinal polyposis associated with malignant changes in 20% of patients at an early age. Germline mutations mostly involve two genes, SMAD4 and BMPR1, with no strong evidence of phenotype-genotype correlation, which could be predictive of the specific long-term evolution. In contrast, PTEN mutations are more commonly associated with Cowden and related diseases. Forty-two unrelated patients affected by juvenile polyposis syndrome were analyzed for germline alterations in the BMPR1A and SMAD4 genes, and for clinical and histological features. Deleterious mutations were found in 14/42 (33%) patients: 5 in BMPR1A and 9 in SMAD4. Low-grade adenomas were present in both SMAD4 and BMPR1A mutation carriers; only patients with SMAD4 mutations harbored carcinoma lesions (5/9). Malformative vessels were present in all SMAD4 related polyps when the mutation involved codons prior to position 423. No gastric polyps were observed in BMPR1A mutation carriers. SMAD4 germline mutations are responsible for a more aggressive digestive phenotype in patients with juvenile polyposis. The presence of malformative vessels within the stromal component might be a useful tool to drive the subsequent genetic and clinical management.

Adolescent↗
PubMed1979

[Genetics of hereditary cutaneous diseases associated with digestive tract involvement].

Most of cutaneous hereditary diseases are associated with digestive symptoms but only four groups have a predominated digestive symptomatology: I. Hereditary disease with intestinal polyposis. II. Vascular dysplasias with intestinal haemorrhage. III. Connective tissue discover in hereditary diseases. IV. Acrodermatitis enteropathica with diarrhoea. Though very different with one another, Peutz-Jeghers syndrome and Gardner's syndrome are transmitted according to autosomal dominant trait. Only bi- or unigenic origin is still controversed. Rendu-Osler's disease and blue rubber bled naevus also transmit according to autosomal dominant trait. Pseudoxanthoma elasticum is very likely transmitted according to autosomal recessivity. But the main forms of Ehlers-Danlos disease are autosomal dominant conditions, the other form being either autosomal recessive or sex-linked (type V). Acrodermatitis enteropathica is transmitted according to autosomal recessivity but the gene has a very variable penetrance so that the mutations are very common.

Acrodermatitis↗
PubMed1992

[Juvenile granulosa cell tumor with subsequent occurrence of gastrointestinal polyposis, subcutaneous lipomatosis and nodular goiter].

A juvenile tumour from granulosa cells (M-8622/1), 13 x 8 x 6 cm, in the right ovary in a three-month-old girl produced some symptoms of pseudopubertas praecox isosexualis which disappeared after operation. Microscopic examination of the tumour revealed in addition to typical structures a less common differentiation to Sertoli cells. Despite actinotherapy and chemotherapy one and a half years after the onset of the disease X-ray examination revealed metastases in the lungs which were successfully cured by further doses of the above two types of treatment. Between the age of 6 and 15 years the girl developed successively polyposis of the stomach, small and large intestine (M-7564/0), subcutaneous lipomatosis of the trunk and left lower extremity (M-8881/0) and nodular goitre (M-7164/0), predominantly quiescent. In the literature a connection between gonadal stromal ovarian tumours and mesenchymal tumours, intestinal polyposis and disorders of the thyroid gland is described, but in different patients. The authors' observation is unique by the successive incidence of these changes in a single patient surviving 15 years after operation; and thus genetically conditioned associations could be involved.

Adolescent↗
PubMed2004

A targeted mutation of Nkd1 impairs mouse spermatogenesis.

Nkd1 is an antagonist of the canonical Wnt/beta-catenin signaling pathway. The EF-hand motif of Nkd1 is required for its inhibitory function. Early studies suggested that Nkd1 might play important roles in mouse embryonic development and tumorigenesis. We constructed Nkd1(-/-) mice whose Nkd1 protein lacked the EF-hand and was unable to inhibit Wnt/beta-catenin signaling. The homozygotes were viable and grew normally, but their fertility in males was reduced. In wild-type adult testes, Nkd1 mRNA was expressed more abundantly in the elongating spermatids than in the round spermatids. Lack of EF-hand caused reductions in the testis weight and sperm count by 30 and 60%, respectively. During testis development, Nkd1 mRNA expression started at the 25th day after birth, coincident with the onset of Wnt1 expression. Nuclear localization of beta-catenin increased in the elongating spermatids, suggesting that the mutant Nkd1 failed to inhibit the Wnt/beta-catenin pathway. These results suggest that deletion of the EF-hand from Nkd1 reduces the number of the elongating spermatids at haploid stage. In contrast, the mutant Nkd1 did not affect intestinal polyposis in Apc(Delta716) mice.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Preventive measures in Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is a rare genetic disorder characterized by mucocutaneous melanin deposition, intestinal polyposis and an increased risk of cancer, both intestinal and extra-intestinal. We describe the current status of diagnosis and the methods by which the consequences of this condition can be minimized. A surveillance program for those diagnosed is also included.

Diagnosis, Differential↗
PubMed2006

Mouse models of gastrointestinal tumors.

The laboratory mouse (Mus musculus) has become one of the best model animal species in biomedical research today because of its abundant genetic/genomic information, and easy mutagenesis using transgenic and gene knockout technology. Genetically engineered mice have become essential tools in both mechanistic studies and drug development. In this article I will review recent topics in gastrointestinal cancer model mice, with emphasis on the results obtained in our laboratory. They include: (i) mouse models for familial adenomatous polyposis (Apc mutant mice; modifier genes of Apc intestinal polyposis; stabilizing beta-catenin mutant mice); (ii) mouse models for colon cancer (mouse models for hereditary non-polyposis colon cancer; additional mutations in Apc mutant mice; models with mutations in other genes; models for colon cancer associated with inflammatory bowel diseases); and (iii) mouse models for gastric cancer.

Adenomatous Polyposis Coli Protein↗
PubMed1991

[Malignant degeneration on ileostomy for rectocolonic polyposis].

One case of malignant degeneration on an ileostomy following proctocolectomy for familial intestinal polyposis is reported. On the basis of a review of the literature, the nosological context of this disease, the etiopathogenesis of cancerization and the surgical consequences are determined.

Adenocarcinoma↗
PubMed2001

Familial adenomatous polyposis: a case report and review of the literature.

Familial adenomatous polyposis (FAP) is an autosomal dominant condition characterized by diffuse intestinal polyposis, specific gene mutation, and predisposition for developing colon cancer. Left untreated, patients with FAP will develop colorectal carcinoma during early adulthood. Hence, early detection and surgical intervention are of the utmost importance. Colectomy is required and may include an ileal pouch with ileoanal anastomosis, which eliminates the colon and rectal disease while preserving fecal continence and avoidance of a permanent ileostomy. Advances in the treatment of FAP with associated reduction in mortality from colorectal carcinoma make extracolonic manifestations of the disease more common and life-long surveillance is mandatory. The most life-threatening extracolonic manifestations of FAP are periampullary carcinoma and desmoid tumors. The upper gastrointestinal tract should be monitored endoscopically at the time of diagnosis and assessed regularly thereafter. Duodenal adenomas should be resected so as to avoid the devastating effects of invasive periampullary carcinoma. Additionally, the development of desmoid tumors needs to be monitored (by CT or MRI), so as to avoid the severe complications of local invasion. Further research is indicated in the development of effective screening and treatment for this condition.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

[Fat absorption in patients with inflammatory diseases of the large intestine and diffuse polyposis].

Radioisotope method with oral administration of 131I-trioleate glycerin and 131I-oleic acid was used to study the absorption of neutral fats and fatty acids in 123 patients with ulcerative colitis, diffuse polyposis of the large intestine, and in 7 patients with ileostomy. It was found that fat secretion with feces was insignificantly higher than the normal and fluctuated within the range of 6.6-11.7%. Steatorrhea did not play a role in the development of clinical symptoms of the disease, and it might be caused by concomitant disorders in the bacterial flora. Slight disorders revealed in the fat absorption should not be considered as an obstacle to their normal use in the diet.

Adenomatous Polyposis Coli↗
PubMed1986

Combined endoscopic and surgical treatment in Peutz-Jeghers syndrome.

A combined endoscopic and surgical treatment in Peutz-Jeghers syndrome is presented. Natural history in Peutz-Jeghers syndrome often leads to multiple and acute laparotomies, resulting in intestinal resections. This may lead to a short bowel syndrome. In order to gain control over the small intestinal polyposis, a combined approach by the gastroenterologist and surgeon is performed. At laparotomy, an endoscope is introduced orally into the small intestine which is then telescoped over it by the surgeon. The small intestine is inspected in retrograde order and existing polyposis is treated by endoscopic or surgical polypectomy, or both, or by minimal intestinal resection. Thus, a "clean small intestine" is created. Data on five patients thus treated are presented. No recurrences were seen after this procedure at a mean follow-up period of 21 months. Combined endoscopic and surgical treatment of Peutz-Jeghers syndrome, together with top and tail endoscopy, results in a "clean intestine" and is supposed to diminish the need for multiple acute laparotomies and, therefore, the risk of a short bowel syndrome. There is also supposed to be an improvement in the quality of life and life expectancy.

Adolescent↗
PubMed1997

Multiple fundic gland polyps in duodenal mucosa not associated with colonic polyposis.

One of extracolonic manifestations of Gardner's syndrome and familial adenomatous polyposis (FAP) are fundic gland polyps (FGP) located typically in the gastric body. Rarely FGP develop in the absence of intestinal polyposis. A case of FGP in the duodenal bulb without associated pathological changes in the large bowel has been reported.

Adenomatous Polyposis Coli↗
PubMed1983

Papillary carcinoma of the thyroid and familial polyposis coli.

A 22-year-old white woman in whom multicentric papillary carcinoma of the thyroid developed two years after prophylactic colectomy for intestinal polyposis is reported. This association has been observed by others. Patients with familial polyposis coli are at risk for a variety of malignancies other than colonic, and careful life-long surveillance is necessary.

Adenocarcinoma↗
PubMed1983

Searching for markers in the hereditary intestinal polyposes.

Oral abnormalities in the intestinal polyposes have been reported by numerous authors. Detection of occult osteomatous and other dental changes in the jaws before development of polyps would be of considerable importance in the early diagnosis of premalignant gastrointestinal disorders. More than 425 individuals from families in whom intestinal polyposis is segregating have received oral-facial examinations. The dental findings may permit early, noninvasive identification of individuals at risk for polyposis.

Adolescent↗