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Peutz-Jeghers syndrome - Be in need of vigilance: A case report.
J Family Med Prim Care
December 2024
Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.
Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.
View Article and Find Full Text PDFManagement of pediatric Peutz-Jeghers syndrome: Highlighting the efficacy and safety of endoscopic ischemic polypectomy.
J Pediatr Gastroenterol Nutr
January 2025
Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Objectives: Patients with Peutz-Jeghers syndrome (PJS) require continuous medical management throughout their lives. However, few case series regarding the clinical course, polyp surveillance, and treatment, including endoscopic ischemic polypectomy (EIP) for pediatric patients with PJS, were reported. We analyzed the current status and clinical course of pediatric patients with PJS under the management of our institute, including those treated with EIP.
View Article and Find Full Text PDFPeutz-Jeghers syndrome in women with jejunojejunal intussusception and multiple gastrointestinal polyposis: A case report.
Int J Surg Case Rep
January 2025
National Academy of Medical Sciences, NAMS, Bir Hospital, Department of General Surgery, Kathmandu, Nepal.
Article Synopsis
- Peutz-Jeghers syndrome (PJS) is a rare genetic disorder that causes gastrointestinal polyps and skin pigmentation, leading to complications like abdominal pain and intestinal obstruction from intussusception.
- A case study details a 36-year-old woman with symptoms such as flank pain and melena, who was diagnosed with PJS after imaging and surgery revealed jejuno-jejunal intussusception and multiple polyps.
- PJS stems from mutations in the STK11 gene, and regular screenings are vital for detecting cancer and monitoring polyp growth, with surgical intervention recommended for significant polyps and intussusception cases.
[Current research status of Peutz-Jeghers syndrome in children].
Zhongguo Dang Dai Er Ke Za Zhi
October 2024
Department of Digestive Nutrition, Hunan Children's Hospital, Changsha 410007, China.
Article Synopsis
- - Peutz-Jeghers syndrome (PJS) is a rare genetic disorder caused by mutations in the STK11/LKB1 gene, leading to skin pigmentation and multiple polyps, which increase cancer risk.
- - Complications of PJS include gastrointestinal issues like bleeding and blockage, with a high risk for intussusception in children that can affect their growth and require surgery.
- - The article discusses the current knowledge on the clinical features, causes, diagnosis, and treatment options for PJS, particularly in pediatric patients.
A Case Report of a Young Adult With Peutz-Jeghers Syndrome Presenting With Acute Small Bowel Obstruction: A Common Complication of an Uncommon Disease.
Cureus
August 2024
Department of Radiology, Pushpagiri Institute of Medical Sciences and Research Centre, Thiruvalla, IND.
Article Synopsis
- * A case study presented a young male with abdominal pain and vomiting, who had noticeable skin pigmentation and was diagnosed with jejuno-jejunal intussusception caused by polyps.
- * The intraoperative findings confirmed the presence of hamartomatous polyps characteristic of PJS, emphasizing the significance of radiological imaging in diagnosing rare intussusception in adults.
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