Use of a nasal obturator of computer-aided design in managing hereditary hemorrhagic telangiectasia

K Spooner, M Pilley, G Marshall, J Uddin… - The Journal of Prosthetic …, 2024 - Elsevier
This clinical report describes the nonsurgical treatment of a patient suffering from severe
epistaxis associated with hereditary hemorrhagic telangiectasia (HHT). Unlike the …

[PDF][PDF] ACVRL1 基因变异的遗传性出血性毛细血管扩张症致脑出血一例

贾俊丽, 王勤周, 戴廷军, 崔谊, 徐广润 - 中国现代神经疾病杂志, 2022 - cjcnn.org
高可达39℃, 以夜间显著, 伴头晕, 头痛, 盗汗和全身乏力, 无咳嗽, 咳痰, 自行服用布洛芬和感冒
颗粒(具体剂量不详), 仍反复发热; 6 天前再次出现发热症状, 并伴胸闷, 憋喘, 以及咳嗽 …

遗传性出血性毛细血管扩张症30 例临床特征研究

王士洪, 李菁 - 中国全科医学, 2024 - chinagp.net
背景遗传性出血性毛细血管扩张症(HHT) 是累及血管的罕见遗传病, 其表现具有临床异质性,
关于其临床特征的相关报道较少. 目的通过总结30 例确诊HHT 患者的临床表现, 治疗及转归 …

A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension

D Morales-Tovar, FD Martínez-Sánchez… - Case Reports in …, 2024 - Wiley Online Library
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber
syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical …

Hereditary Hemorrhagic Telangiectasia Associating Neuropsychiatric Manifestations with a Significant Impact on Disease Management—Case Report and Literature …

F Sârbu, VD Oprea, AL Tatu, E Polea Drima… - Life, 2022 - mdpi.com
(1) Background: Genetic hereditary hemorrhagic telangiectasia (HHT) is clinically
diagnosed. The clinical manifestations and lack of curative therapeutic interventions may …

Surgical resection of diffuse pulmonary arteriovenous malformations (PAVMs)

AR Falk, LJ Nitsche, CE Bontrager, S Bond, LA Beslow… - JTCVS Open, 2024 - Elsevier
Objective Patients with pulmonary arteriovenous malformations (PAVM) can have significant
morbidity and mortality. Surgical resection in isolation or with embolization is reported to …

[PDF][PDF] Unusual Cause of Hypoxemia During Pregnancy: New Diagnosis of Pulmonary Arteriovenous Malformations

L Chen, K Li, H Wen - American Journal of Respiratory and Critical …, 2024 - atsjournals.org
A 28-year-old primigravid woman (36+ 0 weeks) presented with dyspnea, chest tightness,
and dry cough for 5 days, and was admitted to the maternal intensive care unit for …

MicroRNA Dysregulation in Hereditary Hemorrhagic Telangiectasia

A Cannavicci - 2023 - search.proquest.com
Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant genetic disease
characterized by life-threatening vascular malformations. Mutations in endoglin (ENG) and …

Clinical Manifestations of 30 Patients with Hereditary Hemorrhagic Telangiectasia

S WANG, J LI - Chinese General Practice, 2024 - chinagp.net
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder that
primarily affects the vasculature and exhibits a broad spectrum of clinical manifestations …

Cerebral hemorrhage caused by hereditary hemorrhagic telangiectasia with ACVRL1 gene mutation: one case report

CUI Yi - Chinese Journal of Contemporary Neurology & …, 2022 - search.proquest.com
高可达 39℃, 以夜间显著, 伴头晕, 头痛, 盗汗和全身乏力, 无咳嗽, 咳痰, 自行服用布洛芬和感冒
颗粒 (具体剂量不详), 仍反复发热; 6 天前再次出现发热症状, 并伴胸闷, 憋喘, 以及咳嗽, 咳痰 …