Results 31 to 40 of about 5,283 (174)

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

A Rare Cause of Prepubertal Gynecomastia: Sertoli Cell Tumor

Case Reports in Pediatrics, 2015
Prepubertal gynecomastia due to testis tumors is a very rare condition. Nearly 5% of the patients with testicular mass present with gynecomastia. Sertoli cell tumors are sporadic in 60% of the reported cases, while the remaining is a component of ...
Fatma Dursun, Şeyma Meliha Su Dur, Ceyhan Şahin, Heves Kırmızıbekmez, Murat Hakan Karabulut, Asım Yörük   +5 more
doaj   +1 more source

Clinical manifestations and STK11 germline mutations in Taiwanese patients with Peutz–Jeghers syndrome

Asian Journal of Surgery, 2018
Summary: Backgrounds: Clinical manifestations and molecular basis of Taiwanese patients with Peutz–Jeghers syndrome (PJS) were investigated to add the knowledge of phenotype and genotype of the disease.
Jy-Ming Chiang, Tse-Ching Chen
doaj   +1 more source

Management of Non‐Plaque‐Induced Gingival Conditions: A Systematic Review—Part 2: Inflammatory and Immune Conditions; Neoplasms; and Gingival Pigmentation

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Aims This systematic review assesses current evidence on the management of non‐plaque (dental biofilm)‐induced gingival diseases and conditions (NPIGDs), including (i) inflammatory and immune conditions, (ii) neoplasms and (iii) gingival pigmentations.
Maria Clotilde Carra, Cecile Wasielewski, Bruno Špiljak, Maja Sabalić‐Schoener, Sebastien Jungo, Ivan Alajbeg   +5 more
wiley   +1 more source

The pattern of STK11 gene mutation and its phenotypical manifestation in patient with hamartomas polyposis

Біологічні студії, 2014
The clinical examination, genealogical and molecular genetic analysis of the probands and the risk group of three families with Peutz–Jeghers syndrome were carried out.
M. R. Lozynska, A. Plawski, I. V. Khavunka, N. M. Fomenko, L. Y. Lozynska   +4 more
doaj   +1 more source

Registro y seguimiento clínico de pacientes con síndrome de Peutz Jeghers en Valencia

Revista de Gastroenterología de México, 2020
Resumen: Introducción y objetivos: El síndrome de Peutz Jeghers (SPJ) es una enfermedad rara con herencia autosómica dominante, causada por una mutación germinal del gen STK11/LKB1, localizado en el cromosoma 19p13.3, que consiste en hiperpigmentación ...
F.A. Rodríguez Lagos, J.V. Sorlí Guerola, I.M. Romero Martínez, P. Codoñer Franch   +3 more
doaj   +1 more source