Peutz-Jeghers Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2022.3979
Abstract: This case report describes multiple dark-brown 1- to 2-mm hyperpigmented macules on the lips, nose, and conjunctivae. read more here.
Keywords: dermatology; peutz jeghers; jeghers syndrome;
A novel pathogenic splice site variation in STK11 gene results in Peutz–Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1729
Abstract: Peutz–Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease resulting in multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of various types of cancer, and is caused by variations in the serine/threonine… read more here.
Keywords: jeghers syndrome; novel pathogenic; splice site; site variation ... See more keywords
Colon cancer of Peutz-Jeghers syndrome with gallolyticus endocarditis
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Journal of Gastroenterology"
DOI: 10.1007/s12328-019-01080-9
Abstract: We report a case of Peutz-Jeghers syndrome with gallolyticus endocarditis which has not yet been reported. Colon cancer was observed and implicated in Peutz-Jeghers syndrome. A 44-year-old female with fever and heart murmur was diagnosed… read more here.
Keywords: endocarditis; colon; jeghers syndrome; colon cancer ... See more keywords
Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center
Sign Up to like & getrecommendations! Published in 2023 at "Clinics in Colon and Rectal Surgery"
DOI: 10.1055/s-0043-1767704
Abstract: Abstract Peutz–Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of… read more here.
Keywords: treatment experience; pjs; jeghers syndrome; treatment ... See more keywords
Preimplantation genetic testing in two Danish couples affected by Peutz–Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Scandinavian Journal of Gastroenterology"
DOI: 10.1080/00365521.2022.2129031
Abstract: Abstract Background Guidelines from the European Hereditary Tumor Group as well as The Danish National Guidelines for Peutz–Jeghers Syndrome (PJS) state that both prenatal diagnosis and preimplantation genetic testing for monogenic disorders (PGT-M) should be… read more here.
Keywords: preimplantation genetic; pjs; genetic testing; jeghers syndrome ... See more keywords
Peutz-Jeghers syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Current Opinion in Gastroenterology"
DOI: 10.1097/mog.0000000000000718
Abstract: Purpose of review Peutz-Jeghers syndrome is a rare, autosomal dominant, hereditary polyposis syndrome defined by gastrointestinal hamartomas and mucocutaneous pigmentations, caused by a germline mutation in the serine/ threonine kinase 11 or liver kinase B1… read more here.
Keywords: gastroenterology; surveillance; peutz jeghers; jeghers syndrome ... See more keywords
Pancreatic Cancer Early Detection and Interception in an Atypical Case of Peutz-Jeghers Syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Pancreas"
DOI: 10.1097/mpa.0000000000001293
Abstract: Copyright intraductal papillary mucinous neoplasia. Even early-stage pancreatic cancer still maintains a poor prognosis; therefore, early detection strategies should be aimed at detecting premalignant lesions rather than cancer itself. Several institutions have developed programs for… read more here.
Keywords: peutz jeghers; cancer; early detection; jeghers syndrome ... See more keywords
Effectiveness of Double-balloon Enteroscopy-facilitated Polypectomy in Pediatric Patients With Peutz-Jeghers Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000001576
Abstract: ABSTRACT Sizable small-bowel (SB) polyps in Peutz-Jeghers syndrome (PJS) pose a high risk for intussusception, often necessitating laparotomy and intraoperative enteroscopy. This series examines the effectiveness of double-balloon enteroscopy (DBE) facilitated polypectomy for pediatric patients… read more here.
Keywords: facilitated polypectomy; enteroscopy; pediatric patients; polypectomy pediatric ... See more keywords
Clinical and Genetic Study of Children With Peutz-Jeghers Syndrome Identifies a High Frequency of STK11 De Novo Mutation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000002166
Abstract: Objectives: The present study aims to identify the genotype-phenotype correlation in children with Peutz-Jeghers Syndrome (PJS) through the analysis of STK11 gene mutations in the context of clinical and pathological characteristics. Method: In this observational… read more here.
Keywords: peutz jeghers; high frequency; children peutz; study ... See more keywords
Intestinal intussusception in a child with Peutz–Jeghers syndrome: case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000675
Abstract: Introduction and importance: Peutz–Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal… read more here.
Keywords: intussusception; peutz jeghers; jeghers syndrome; case ... See more keywords
68Ga-FAPI-04 Versus 18F-FDG PET/CT in a Case of Peutz-Jeghers Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nuclear medicine"
DOI: 10.1097/rlu.0000000000004113
Abstract: ABSTRACT Peutz-Jeghers syndrome is a rare inherited hamartomatous polyposis syndrome. We describe 68Ga-FAPI-04 and 18F-FDG PET/CT findings in a case of Peutz-Jeghers syndrome with primary duodenal clear cell sarcoma, peritoneal metastases, and multiple intestinal polyps… read more here.
Keywords: jeghers syndrome; fdg pet; 68ga fapi; 18f fdg ... See more keywords