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Peutz-Jeghers syndrome, which has autosomal dominant inheritance, shows pigmentation in lip and skin. It also has features of harmatomatous polyp over the gastrointestinal tract, while sometimes developing tumor in genital tract. Known tumors in female genital tract include cervical adenocarcinoma, sex cord tumor, etc. Adenomyomatous polyp in uterus is also one of the rare diseases, which seldo...
Germline mutations of the LKB1 (STK11) serine/threonine kinase gene (chromosome 19p13.3) cause Peutz-Jeghers syndrome, which is characterised by hamartomas of the gastrointestinal tract and typical pigmentation. Peutz-Jeghers syndrome carries an overall risk of cancer that may be up to 20 times that of the general population. Here, we report the results of a screen for germline LKB1 mutations b...
INTRODUCTION A hamartomatous polyp without associated mucocutaneous pigmentation or a family history of Peutz-Jeghers Syndrome is diagnosed as a solitary Peutz-Jeghers type hamartomatous polyp. As compared with Peutz-Jeghers Syndrome, Peutz-Jeghers type hamartomatous polyps are diagnosed with a lower risk of cancer and are regarded as a different disorder. CASE PRESENTATION In case one, we de...
Peutz-Jeghers syndrome is characterized by multiple polyps throughout the gastrointestinal tract in association with mucocutaneous pigmentation. Although Peutz-Jeghers syndrome polyps are hamartomas, frequent association of this syndrome with both gastrointestinal and non-gastrointestinal tumours had led to reassessment of the cancer risk in this hereditary disorder. The most common gynaecologi...
А im: to reveal the rate of large rearrangements in genes responsible for familial adenomatous polyposis, MUTYH -associated polyposis and Peutz–Jeghers syndrome. Materials methods. The MLPA method was used identification rearrangements. A total number 135 patients included study: 83 with a clinical diagnosis “familial polyposis”, 18 — suspected 34 “Peutz–Jeghers syndrome”. Results. Seven deleti...
Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease characterized by a special type of hamartomatous gastrointestinal polyps combined with mucocutaneous melanin pigmentations. Patients with the syndrome have a high risk of developing neoplasia, with colon, small bowel, and stomach being the most common gastrointestinal sites. Herein, we present the occurrence of a rare tumor i...
Adenoma malignum (AM) is known to be one of the malignant tumors that is commonly associated with Peutz-Jeghers syndrome. Recently, the genetic locus of Peutz-Jeghers syndrome was mapped to the telomeric region of chromosome 19p. We analyzed nine sporadic cases of AM with high-density loss of heterozygosity to study the region of chromosome 19p13.2-13.3 using eight microsatellite markers. Our d...
a diagnosis of acute pancreatitis. The patient had experienced abdominal pain, nausea, and vomiting. In the 2 months prior to admission, he had been admitted and treated for acute pancreatitis twice in another hospital. He had no history of alcohol intake or habitual drug use. The physical examination was unremarkable except for epigastric tenderness, but his amylase level was markedly raised (...
Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors....
Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report on an 18-year-old Chinese male who complained with pigmentation on face and extremities for over 10 years. Colonoscopy revealed more than ten polyps from transverse colon to rectum. The family survey included 15 fami...
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