نتایج جستجو برای: jeghers syndrome
تعداد نتایج: 622021 فیلتر نتایج به سال:
BACKGROUND Duodenal Peutz-Jeghers polyp is a rare cause of duodenal or biliary obstruction. However, a sporadic Peutz-Jeghers polyp leading to simultaneous biliary and duodenal obstruction has not been reported. CASE PRESENTATION We report a case of a 25-year-old Sri Lankan woman presenting with features of recurrent upper small intestinal obstruction and biliary obstruction. She had clinical...
The Peutz Jeghers syndrome (PJS) is an autosomal dominant disorder which is characterised by hamartomatous polyposes of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. We are reporting a case of a 15-year-old male with Peutz Jeghers syndrome, who presented to us with features of chronic intestinal obstruction and anaemia. Init...
We analyzed somatic mutation and loss of heterozygosity (LOH) in the serine/threonine kinase 11 (STK11)/Peutz-Jeghers syndrome gene in 49 colorectal tumors in three different stages of a dysplasia-carcinoma sequence. We detected LOH in 10 of 19 (52.6%) informative colorectal cancers at loci D19S886 and/or D19S883, but no LOH was observed in 25 informative adenomas. We detected a total of 9 soma...
Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastro intestinal (GI) tract, with pigmentation around lips and macules on the buccal mucosa. The case of a 10-year-old girl who presented with intussusception is reported. A polyp was found to be the cause of an invagination. Histologically it was a hamartoma. PJS is a rare syndrome inherited in an autosomal dominant pat...
Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Data on prevalence of PJS in India is not available. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). We report here a case of 18 y...
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