Results 21 to 30 of about 5,233 (135)

Peutz-Jeghers syndrome, telangiectasias, and mitral valve prolapse. Case presentation and genetic counseling

Revista Habanera de Ciencias Médicas, 2021
Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness.
Ana Elena Arús Fernández, Enrique Arús Soler   +1 more
doaj  

Solitary Peutz-Jeghers type hamartomatous polyps in the duodenum are not always associated with a low risk of cancer: two case reports

Journal of Medical Case Reports, 2011
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.
Koide Tomoko, Takahashi Hirokazu, Sakamoto Yasunari, Iida Hiroshi, Tanaka Michio, Tsunemi Akisa, Saito Kumiko, Fujisawa Nobutaka, Takahata Ayako, Akimoto Keiko, Tsuzawa Kaoru, Suzuki Kaori, Hirai Mitsuru, Inamori Masahiko, Sekino Yusuke, Tokoro Chikako, Abe Yasunobu, Nakajima Atsushi, Maeda Shin, Koyama Shigeru   +19 more
doaj   +1 more source

Colorectal Cancer Screening in Hereditary and Familial High‐Risk Populations: Best Practices and Future Directions

International Journal of Cancer, EarlyView.
ABSTRACT Colorectal cancer (CRC) remains a leading cause of cancer‐related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored
Ophir Gilad, Francesc Balaguer, Elizabeth E. Half, Kevin J. Monahan, Elena M. Stoffel, Sonia S. Kupfer   +5 more
wiley   +1 more source

Peutz-Jeghers syndrome and sinonasal diseases: A case report and literature review

Ear, Nose & Throat Journal
Peutz-Jeghers syndrome is an unusual inherited intestinal polyposis syndrome associated with distinct mucocutaneous pigmentation. Peutz-Jeghers syndrome is known to show variable penetrance and clinical heterogeneity.
Seung Yong Park MD, Kyung Soo Kim MD, PhD, Hyun Jin Min MD, PhD   +2 more
doaj   +1 more source

Deleterious mis‐splicing of STK11 caused by a novel single‐nucleotide substitution in the 3′ polypyrimidine tract of intron five

Molecular Genetics & Genomic Medicine, 2020
Background Pathogenic variants in STK11, also designated as LKB1, cause Peutz–Jeghers syndrome, which is a rare autosomal dominant disorder characterized by mucocutaneous pigmentation changes, polyposis, and a high risk of cancer.
Thorkild Terkelsen, Ole H. Larsen, Søren Vang, Uffe B. Jensen, Friedrik Wikman   +4 more
doaj   +1 more source

Endoscopic treatment of intussusception due to small intestine polyps in patients with Peutz-Jeghers Syndrome

Endoscopy International Open, 2022
Background and study aims Intussusception caused by intestinal polyps in patients with Peutz-Jeghers syndrome usually requires laparotomy. Patients following successful endoscopic reduction using double-balloon endoscopy (DBE) have been reported. The aim
Kunihiko Oguro, Hirotsugu Sakamoto, Tomonori Yano, Yohei Funayama, Masafumi Kitamura, Manabu Nagayama, Keijiro Sunada, Alan Kawarai Lefor, Hironori Yamamoto   +8 more
doaj   +1 more source

Clinical and genetic features of pediatric hereditary polyposis syndromes in Israel: A nationwide multicenter cohort

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Hereditary polyposis syndromes in children are rare, heterogeneous disorders associated with significant morbidity and long‐term risk of malignancy. Current data on their presentation, management, and outcomes in pediatric populations remain limited.
Shlomi Cohen, Tal Cozacov, Ilana Weintraub, Ron Shaoul, Oren Ledder, Dotan Yogev, Mordechai Slae, Ranya Egbarieh, Galina Ling, Anat Yerushalmy‐Feler   +9 more
wiley   +1 more source

Peutz-Jeghers polyp: A Retrospective Study on Twelve Cases Received at the Department of Pathology, Bangabandhu Sheikh Mujib Medical University

Bangabandhu Sheikh Mujib Medical University Journal, 2012
Background: Peutz Jegher syndrome is a rare inherited condition characterized mainly by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation.
Tamanna Choudhury, Suraiya Enam, Ferdousy Begum, Md. Taufiq, Mohammed Kamal   +4 more
doaj   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

A novel classification of testicular sex cord‐stromal tumours from the Testicular Sex Cord‐Stromal Tumour (TESST) group: a collaboration of the Genitourinary Pathology Society (GUPS) and the International Society of Urological Pathology (ISUP)

Histopathology, EarlyView.
The TESST classification of testicular sex cord‐stromal tumours was agreed upon by consensus based on the best available evidence. The picture shows the members of the TESST group and delegates of GUPS and ISUP present in‐person at the first meeting of the group held at Johns Hopkins Hospital (Baltimore, 2024). Aims Testicular sex cord‐stromal tumours (
Andres M. Acosta, Felix Bremmer, John C. Cheville, Maurizio Colecchia, Eva Comperat, Kristine Cornejo, Dilek E. Baydar, Anthony J. Gill, Maria del Pilar Gonzalez‐Peramato, Sounak Gupta, Michelle S. Hirsch, Muhammad T. Idrees, Chia‐Sui Kao, Fiona MacLean, Andres Matoso, Rohit Mehra, Santosh Menon, Kvetoslava Michalova, Sambit K. Mohanty, Miguel Reyes‐Mugica, Maria Rosaria Raspollini, Ankur R. Sangoi, Lynette M. Sholl, Stephanie Siegmund, Satish K. Tickoo, Toyonori Tsuzuki, Thomas M. Ulbright, Sean R. Williamson, Asli Yilmaz, Daniel M. Berney   +29 more
wiley   +1 more source