Diagnostic utility of deep excisional skin biopsy including abdominal fat for transthyretin cardiac amyloidosis [0.03%]
包括腹部脂肪的深组织活检在血清蛋白转甲状腺素蛋白心肌病诊断中的作用
Kohei Honda,Ikoi Omatsu,Tetsuhiro Yamano et al.
Kohei Honda et al.
Fewer gastrointestinal events with vutrisiran versus placebo in patients with transthyretin amyloidosis with cardiomyopathy: analysis from the phase 3 HELIOS-B study [0.03%]
与安慰剂相比，Vutrisiran治疗ATTR-CM患者的胃肠不良事件更少：HELIOS-B研究的分析结果
Marcus A Urey,Quan M Bui,Laura Obici et al.
Marcus A Urey et al.
Background: Patients with transthyretin amyloidosis (ATTR) with cardiomyopathy (CM) can experience extracardiac manifestations, including gastrointestinal (GI) manifestations that negatively impact their quality of life. ...
Progressive leptomeningeal involvement on gadolinium-enhanced FLAIR MRI in hereditary transthyretin amyloidosis with the V30M (p.V50M) mutation [0.03%]
遗传性转甲状腺素蛋白淀粉样变V30M(p.V50M)突进路病例的钆剂增强FLAIR-MRI进行性脑池受累
Yohei Misumi,Toshiya Nomura,Tomoaki Taguchi et al.
Yohei Misumi et al.
Background: Advances in disease-modifying therapies for hereditary transthyretin (ATTRv) amyloidosis have improved long-term survival. As a result, central nervous system (CNS) involvement, particularly leptomeningeal amy...
Yoshiki Sekijima,Mitsuharu Ueda,John L Berk et al.
Yoshiki Sekijima et al.
The pathogenesis of hereditary ATTR (ATTRv) amyloidosis has been elucidated, and disease-modifying drugs with multiple mechanisms of action are used clinically. The International Society of Amyloidosis (ISA) guidelines strongly recommend tr...
Hepatic multimodal phenotyping in AL amyloidosis with cardiac involvement: the D-Amy-LIPHE study [0.03%]
心脏受累的AL淀粉样变性患者的肝脏多模态表型特征研究：D-Amy-LIPHE研究
Anna Sessa,Amira Zaroui,Margaux Charles et al.
Anna Sessa et al.
Background: In light-chain (AL) amyloidosis, liver involvement is defined using arbitrary criteria such as hepatomegaly or elevated Alkaline Phosphatase (ALP). We aimed to determine its prevalence and to characterize its ...
Fat aspiration for amyloidosis screening of 2830 patients from 2013 to 2020: compelling sensitivity for AL and better sensitivity in females for all major subtypes [0.03%]
2013年至2020年2830名患者脂肪抽吸筛查淀粉样变：AL型极佳敏感性，女性患者主要亚型的敏感性更高
Christoph Richard Kimmich,Stefan O Schönland,Norbert Blank et al.
Christoph Richard Kimmich et al.
Introduction: Subcutaneous fat aspiration is a minimally-invasive screening tool for systemic amyloidosis (SA) with high variability in reported sensitivities. ...
Proteostasis is disrupted in human endothelial cells by serum from ATTR patients and is rescued by tafamidis treatment [0.03%]
ATTR患者的血清可干扰人内皮细胞中的蛋白质稳态，而塔法莫司治疗可以逆转这种影响
Despoina D Gianniou,Dimitrios Delialis,Georgios Georgiopoulos et al.
Despoina D Gianniou et al.
Background: The vascular effects of wild-type (ATTRwt-CM) and hereditary (ATTRv-CM) transthyretin cardiac amyloidosis, and the impact of tafamidis treatment, remain unclear. ...
Exploring light chain cardiotoxicity in AL amyloidosis: impact on hiPSC-derived cardiomyocyte activity [0.03%]
轻链的心脏毒性在AL淀粉样变性中的作用：对hiPSC源心肌细胞活性的影响
Serena Calamaio,Anthony Frosio,Dario Melgari et al.
Serena Calamaio et al.
Background: Immunoglobulin light chain (AL) amyloidosis is a protein misfolding disorder marked by systemic amyloid deposition from monoclonal light chains (LCs). Cardiac involvement determines prognosis, and soluble card...
Long-term efficacy and safety of vutrisiran in hereditary transthyretin amyloidosis with polyneuropathy: final analysis of the HELIOS-A randomized treatment extension [0.03%]
外显子跳跃RNAi疗法vutrisiran治疗遗传性转甲状腺素蛋白淀粉样变性多发神经病变的长期疗效和安全性：HELIOS-A随机化治疗扩展期研究最终分析
Cécile Cauquil,David Adams,Julian Gillmore et al.
Cécile Cauquil et al.
Background: The long-term efficacy and safety of vutrisiran in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) were assessed in the HELIOS-A randomized treatment extension (RTE). ...
Fluorine-18 florbetapir positron emission tomography unmasks amyloidosis with equivocal technetium-99m pyrophosphate findings driven by a novel transthyretin variant [0.03%]
新型转甲状腺素蛋白变异体驱动的锝[99mTc]焦磷酸盐检查结果存疑的淀粉样变病可通过氟[18F]氟化物正电子发射断层扫描检出
Xinglin Yang,Xuezhu Wang,Yuke Zhang et al.
Xinglin Yang et al.