Results 81 to 90 of about 6,765 (189)

Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Disease)

open access: yes, 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   +4 more
core   +1 more source

Gingival and Periodontal Diseases and Conditions in Children and Adolescents: Consensus Report

open access: yesJournal of Clinical Periodontology, Volume 53, Issue 7, Page 1068-1099, July 2026.
ABSTRACT Background The objectives of this Focused Workshop were to update the epidemiology, aetiology, risk factors, diagnosis and management of gingival and periodontal diseases and conditions in children and adolescents, and to explore the applicability of the 2018 Classification in children and adolescents.
Iain Chapple   +30 more
wiley   +1 more source

Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations [PDF]

open access: yes, 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   +7 more
core   +1 more source

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

open access: yesCanadian 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   +4 more
doaj   +1 more source

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

open access: yesCurrent 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   +2 more
wiley   +1 more source

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

open access: yes, 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

open access: yesAnnals 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   +3 more
doaj   +1 more source

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

open access: yesJournal 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   +13 more
wiley   +1 more source

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

open access: yesMolecular 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   +9 more
wiley   +1 more source

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

open access: yesJournal of Gastroenterology and Hepatology, Volume 41, Issue 6, Page 1743-1750, June 2026.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins   +5 more
wiley   +1 more source

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