Results 71 to 80 of about 6,792 (211)

Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease)

, 2013
Angiectasias are the most frequent lesions in the small bowel. However, hereditary hemorrhagic telangiectasia is a rare condition diagnosed by genetic testing or clinical criteria (family history, recurrent epistaxis, telangiectasia, and visceral ...
Matsui, U, Steinbrück, I, Baltes, P, Hagenmüller, F, Keuchel, M   +4 more
core   +1 more source

Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations [PDF]

, 2015
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients.
Kiyoshi Hasegawa, Yoshihiro Sakamoto, Nobuhisa Akamatsu, Yujiro Nishioka, Yasuhiko Sugawara, Junichi Arita, Norihiro Kokudo, Junichi Kaneko   +7 more
core   +1 more source

High‐Content Immunofluorescence Quantification of Transcription Factors: Application to pSMADs for BMP/TGFβ Signaling Pathways

Current Protocols, Volume 6, Issue 6, June 2026.
Abstract High‐throughput immunofluorescence (IF) detection has become an essential tool in drug discovery for analyzing multiple markers and providing insights into cellular pathways. While IF techniques have been established for decades, high‐content IF protocols vary among laboratories, highlighting the need for standardized and quantitative ...
Valia Khodr, Paul Machillot, Catherine Picart   +2 more
wiley   +1 more source

Embolization of a Duodenal Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia: Case Report and Review of the Literature

Canadian Journal of Gastroenterology, 2003
A 68-year-old man with hereditary hemorrhagic telangiectasia presented with recurrent, intermittent gastrointestinal hemorrhage. Transfusion of a total of 27 units of red blood cells was required over the three months before admission.
Phil Inouye, Norman Marcon, Robin A Pugash, Robert H Hyland, Marie E Faughnan   +4 more
doaj   +1 more source

Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia

, 1997
From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core  

A Case of Hereditary Hemorrhagic Telangiectasia With Gastrointestinal Tract Involvement

Annals of Internal Medicine: Clinical Cases
Hereditary hemorrhagic telangiectasia involves the development of arteriovenous malformations which can occur in various organ systems, including the skin and gastrointestinal tract.
Sosi Dzhugarian, Sari Lada, Adnan Ameer, James Tynan Daly   +3 more
doaj   +1 more source

Oral Cryptococcosis due to Naganishia diffluens in a Patient With Thalassemia: A Case Report and a Literature Review

Journal of Clinical Laboratory Analysis, Volume 40, Issue 11, June 2026.
Naganishia diffluens, a rare non‐neoformans cryptococcal species, was identified by PCR sequencing as the causative agent of oral cryptococcosis in a 31‐year‐old Iranian man with β‐thalassemia. This case represents the first documented instance of oral infection by N.
Zahra Yahyazadeh, Zeynab Haseli, Javad Javidnia, Mahdi Abastabar, Eisa Nazar, Hosein Jalali, Mohamad Taghi Hedayati, Hossein Karami, Mohsen Nosratabadi, Lotfollah Davoodi, Seyyed Reza Aghili, Maryam Moazeni, Iman Haghani, Hamid Badali   +13 more
wiley   +1 more source

A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical Utility

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Pre‐classification variant selection and reanalysis of undiagnosed cases are critical to optimise the quality improvement in the clinical delivery of whole genome sequencing in rare disease. Variant selection via virtual panels can expedite interpretation but may miss clinically relevant findings, leaving cases undiagnosed for rare disease.
Sarah Sonner, Caoimhe McKenna, Shirley Heggarty, Cassie Hamill, Cheryl Flanagan, Shane McKee, Katie Kerr, Rasha Alhazzaa, Amy Jayne McKnight, Fionnuala Mone   +9 more
wiley   +1 more source

Kaposiform hemangioendothelioma: Diagnosis and treatment

Pediatric Investigation, Volume 10, Issue 3, Page 269-280, June 2026.
Vascular endothelial growth factor‐C (VEGF‐C)/vascular endothelial growth factor receptor‐3 (VEGFR‐3) and angiopoietin‐2 (Ang‐2)/tyrosine kinase with immunoglobulin‐like and EGF‐like domain 2 (TIE2) signaling pathways play an important role in lymphangiogenesis.
Yi Tian, Yuanyuan Tian, Li Wei, Zigang Xu, Li Li, Lin Ma   +5 more
wiley   +1 more source

Advances in mucosal injury mechanisms in radiation‐induced esophagitis associated with thoracic radiotherapy

Precision Radiation Oncology, Volume 10, Issue 2, Page 242-253, June 2026.
There is no specific therapeutic drug regimen for radiation esophagitis. In previous studies, radiation esophagitis was considered a self‐limiting disease; however, current clinical approaches are limited to symptomatic treatment, which yields unsatisfactory therapeutic outcomes.
Hao Zhang, Liangxue Luo, Chaofen Zhao, Bibo Wu, Jing Zhang, Lingfeng Liu, Bing Lu, Shengfa Su   +7 more
wiley   +1 more source