Results 41 to 50 of about 5,377 (175)

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

Paediatric Melanonychia: Diagnosis and Management

JEADV Clinical Practice, EarlyView.
ABSTRACT Longitudinal melanonychia (LM) in children presents unique diagnostic and management challenges that cannot be adequately addressed by applying adult‐based criteria. Unlike in adults, there are no validated clinical, dermoscopic or histopathologic criteria for predicting nail unit melanoma in the paediatric population.
Angela J. Jiang, Erika Koh, Je‐Ho Mun, Dong‐Youn Lee, Matilde Iorizzo, Adam I. Rubin   +5 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

Polyposis: The Peutz-Jeghers syndrome

Journal of British Surgery, 1995
Abstract The classical pigmentation of Peutz-Jeghers syndrome distinguishes it immediately from the other polyposis syndromes. Less widely appreciated than this most obvious manifestation are the pitfalls in management presented by the risk of cancer and by the performance of multiple laparotomies that also characterize this condition ...
A D, Spigelman, P, Arese, R K, Phillips
openaire   +2 more sources

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

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

Peutz–Jeghers syndrome with polyps in the stomach, duodenum, and small and large intestine: a case report

Journal of Medical Case Reports
Background Peutz–Jeghers syndrome is a rare hereditary condition characterized by gastrointestinal polyps and pigmented oral lesions. The case contributes to a deeper understanding of Peutz–Jeghers syndrome and underscores the significance of ...
Zaryab Ali Shah, Muhammad Zeb, Muhammad Ilyas, Hasnain Hamid, Komal Fatima, Maria Batool, Muhammad Abbas   +6 more
doaj   +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