Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8640-7
Abstract: Hereditary transthyretin (ATTR) amyloidosis is a life-threatening, autosomal dominant, systemic amyloidosis caused by mutant transthyretin. In addition to ATTRV30M in endemic and non-endemic areas, more than 140 non-V30M mutations occur worldwide. The aim of this… read more here.
Keywords: attrv30m amyloidosis; non endemic; amyloidosis; non v30m ... See more keywords
Screening for ATTR amyloidosis in the clinic: overlapping disorders, misdiagnosis, and multiorgan awareness
Sign Up to like & getrecommendations! Published in 2021 at "Heart Failure Reviews"
DOI: 10.1007/s10741-021-10080-2
Abstract: Amyloid transthyretin (ATTR) amyloidosis is a clinically heterogeneous and fatal disease that results from deposition of insoluble amyloid fibrils in various organs and tissues, causing progressive loss of function. The objective of this review is… read more here.
Keywords: awareness; diagnosis attr; screening attr; amyloidosis ... See more keywords
A case of localized colorectal wild-type ATTR amyloidosis complicated by early stage colorectal cancer and a CMV-associated ulcer during the long-term follow-up
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Journal of Gastroenterology"
DOI: 10.1007/s12328-022-01628-2
Abstract: Gastrointestinal involvement is a rare manifestation of systemic amyloidosis, and few reports have been published on localized amyloidosis of the colon. Only one case report has been published on the long-term prognosis of localized colorectal… read more here.
Keywords: case; long term; attr amyloidosis; amyloidosis ... See more keywords
Incidental cardiac uptake of 99mTc-diphosphonates is predictive of poor outcome: data from 9616 bone scintigraphies
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Nuclear Cardiology"
DOI: 10.1007/s12350-022-02961-2
Abstract: Bone scintigraphy (BS) is highly diagnostic for amyloid transthyretin (ATTR) cardiomyopathy. Prevalence and prognostic value of BS cardiac uptake is not well established. Our aim was to assess the prevalence of subclinical cardiac ATTR amyloidosis… read more here.
Keywords: cardiac attr; cardiac uptake; uptake; attr amyloidosis ... See more keywords
Cardiac microcalcifications in transthyretin (ATTR) amyloidosis.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of cardiology"
DOI: 10.1016/j.ijcard.2022.01.036
Abstract: BACKGROUND Bone tracers bind to amyloid-containing heart of most patients with ATTR amyloidosis. Amyloid deposits outside the heart are often scarce and bone scintigraphy is increasingly often used to diagnose cardiac involvement. However, the nature… read more here.
Keywords: amyloid; bone; attr amyloidosis; heart ... See more keywords
Challenging the myths of cardiac amyloidosis.
Sign Up to like & getrecommendations! Published in 2017 at "European heart journal"
DOI: 10.1093/eurheartj/ehx210
Abstract: The scientific history of systemic amyloidosis is replete with reports of incremental advancements reflecting developments in diagnostic tools and therapies, punctuated by frequent paradigm shifts that challenge the conventional wisdom of the day. First identified… read more here.
Keywords: diagnosis; challenging myths; amyloidosis; systemic amyloidosis ... See more keywords
The value of screening biopsies in light chain (AL) and transthyretin (ATTR) amyloidosis.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of haematology"
DOI: 10.1111/ejh.13458
Abstract: INTRODUCTION Systemic amyloidosis is a histological diagnosis, often achieved via critical organ biopsy. Screening biopsies represent a low-risk approach to diagnosis. OBJECTIVES AND METHODS All patients with systemic AL and ATTR amyloidosis who underwent abdominal… read more here.
Keywords: screening biopsies; biopsy; amyloidosis; diagnostic sensitivity ... See more keywords
Transthyretin amyloidosis with macro-creatine kinase
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-251209
Abstract: © BMJ Publishing Group Limited 2022. No commercial reuse. See rights and permissions. Published by BMJ. DESCRIPTION A man in his 70s with no other significant medical history presented with a 2 month history of… read more here.
Keywords: creatine kinase; macrock type; amyloidosis; attr amyloidosis ... See more keywords
001 Multiparametric mapping to understand pathophysiology in cardiac amyloidosis
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DOI: 10.1136/heartjnl-2017-311399.1
Abstract: Background The prognosis and treatment of the 2 main types of cardiac amyloidosis, immunoglobulin light chain (AL) and transthyretin (ATTR) amyloidosis are substantially influenced by cardiac involvement. ATTR amyloidosis has better prognosis than AL despite… read more here.
Keywords: figure; healthy volunteers; amyloidosis; cardiac amyloidosis ... See more keywords
The Changing Face of Amyloidosis Referrals at a Tertiary Center over the Past 3 Decades
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DOI: 10.1182/blood-2018-99-112193
Abstract: Amyloidosis is an increasingly recognized group of disorders, characterized by the deposition of misfolded protein aggregates in various tissues and organs. For over 50 years, the Amyloidosis Center at Boston University Medical Center (BUMC) has… read more here.
Keywords: amyloidosis referrals; amyloidosis; decade; center ... See more keywords
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
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DOI: 10.1186/s40246-021-00351-2
Abstract: Background Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to… read more here.
Keywords: amyloidosis; ttr variants; saudi population; population ... See more keywords