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[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.
Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.
Turk J Gastroenterol
March 2024
Division of Gastroenterology, Department of Internal Medicine, Dokuz Eylül University School of Medicine, İzmir, Turkey.
Article Synopsis
- Peutz-Jeghers syndrome (PJS) is a rare genetic disorder linked to heightened cancer risk, primarily due to mutations in the STK11 gene, with a study focusing on its manifestations and genetic profiles among 20 patients across 14 families.
- The research found that typical symptoms began around 18.9 years of age, with common issues including abdominal pain and specific polyps; 85% of patients had mucocutaneous lesions, and dysplastic polyps were present in some cases, leading to a few malignancies.
- The study successfully identified multiple pathogenic mutations, including 3 novel variants, and achieved high diagnostic rates with genetic testing; notable findings indicate that patients without mutations tend to show later symptom
When synchronous mucinous metaplasia and neoplasia of the female genital tract and peutz-jeghers syndrome meet: a case report and literature reviews.
BMC Womens Health
June 2024
College of Medicine, Cheeloo College of Medicine, Shandong University, 44 Wenhua Xi Road, Jinan, Shandong, People's Republic of China.
Background: Peutz-Jeghers syndrome (PJS) is characterized by the presence of hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation on the lips, oral mucosa, nose, fingers, and toes. Synchronous mucinous metaplasia and neoplasia of the female genital tract (SMMN-FGT) refers to the occurrence of multifocal mucinous lesions in at least two sites, including the cervix, uterus, fallopian tubes, and ovaries, in the female genital tract. SMMN-FGT and PJS are rare diseases with a very low incidence, especially when occurring simultaneously.
View Article and Find Full Text PDFPeutz-Jeghers syndrome: management for recurrent intussusceptions.
Pediatr Surg Int
June 2024
Department of Paediatric Surgery, SGPGIMS, Lucknow, 226014, India.
Background: Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyps along with the characteristic mucocutaneous freckling. Multiple surgeries for recurrent intussusception in these children may lead to short bowel syndrome. Here we present our experience of management in such patients.
View Article and Find Full Text PDFA case report and literature review of Peutz-Jeghers syndrome complicating by acute small-bowel intussusception.
Asian J Surg
August 2024
Department of Hepatobiliary Surgery, Affiliated Hangzhou First People's Hospital, West Lake University School of Medicine, Hangzhou, 310006, China. Electronic address:
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