Clinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment

Source: Amyloid: The Journal of Protein Folding Disorders - Category: Biochemistry Authors: Source Type: research

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Blood Cancer Journal, Published online: 25 February 2020; doi:10.1038/s41408-020-0291-8Blood mass spectrometry detects residual disease better than standard techniques in light-chain amyloidosis
Source: Blood Cancer Journal - Category: Hematology Authors: Source Type: research
ConclusionBoth TTR ‐ and AL‐CA can accompany severe AS. Parameters solely based on ECG and echocardiography allow for the identification of the majority of CA‐AS. In the present cohort, CA did not significantly worsen prognosis 15.3 months after TAVR.
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Research Article Source Type: research
European Journal of Heart Failure, EarlyView.
Source: European Journal of Heart Failure - Category: Cardiology Authors: Tags: Editorial Comment Source Type: research
The underrecognized disease is rare and diagnosis complicated by a lack of awareness and heterogeneity of symptoms at presentation.Medscape Medical News
Source: Medscape Hematology-Oncology Headlines - Category: Cancer & Oncology Tags: Cardiology News Source Type: news
To report an unusual case of light-chain (AL) amyloidosis with progressive bilateral chorioretinal abnormalities documented with short-wavelength autofluorescence, SD-OCT, fluorescein and indocyanine green ang...
Source: BMC Ophthalmology - Category: Opthalmology Authors: Tags: Case report Source Type: research
Source: Journal of Nuclear Cardiology - Category: Nuclear Medicine Source Type: research
Publication date: Available online 20 February 2020Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Li YuePing, Wang Yuchuan, Zhang WeiA 24-year-old woman presented with periorbital pain, progressive diplopia, and restricted eye movement. Routine blood testing was normal except for increased levels of thyroid peroxidase autoantibody (TPOAb) and thyroglobulin autoantibody (TGAb). Orbital computed tomography revealed fusiform thickening of the rectus muscles belly, with tendon sparing, as in thyroid eye disease. Rectus muscle biopsy revealed isolated amyloidosis. Further workup sho...
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
ConclusionsAmyloidosis is an uncommon finding in patients with multiple myeloma, especially in younger individuals.
Source: Arab Journal of Gastroenterology - Category: Gastroenterology Source Type: research
Xin Zhou, Quan Chen, Xin TianIndian Journal of Dermatology, Venereology, and Leprology 2020 86(2):230-230
Source: Indian Journal of Dermatology, Venereology and Leprology - Category: Dermatology Authors: Source Type: research
AMPK activation does not enhance autophagy in neurons in contrast to MTORC1 inhibition: different impact on β-amyloid clearance. Autophagy. 2020 Feb 20;:1-16 Authors: Benito-Cuesta I, Ordóñez-Gutiérrez L, Wandosell F Abstract The physiological AKT-MTORC1 and AMPK signaling pathways are considered key nodes in the regulation of anabolism-catabolism, and particularly of macroautophagy/autophagy. Indeed, it is reported that these are altered processes in neurodegenerative proteinopathies such as Alzheimer disease (AD), mainly characterized by deposits of β-amyloid (Aβ)...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
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