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Brazilian Journal of Otorhinolaryngology 2020
Topics: Amyloidosis; Humans; Laryngeal Diseases; Larynx
PubMed: 33051158
DOI: 10.1016/j.bjorl.2020.07.006 -
Internal Medicine (Tokyo, Japan) Feb 2024
Topics: Humans; Liver Diseases; Amyloidosis; Multiple Myeloma; Hepatomegaly
PubMed: 37344422
DOI: 10.2169/internalmedicine.2186-23 -
Molecular Neurodegeneration Feb 2021Alzheimer's disease (AD) is among the most prevalent neurodegenerative diseases, with brain pathology defined by extracellular amyloid beta deposits and intracellular... (Review)
Review
Alzheimer's disease (AD) is among the most prevalent neurodegenerative diseases, with brain pathology defined by extracellular amyloid beta deposits and intracellular tau aggregates. To aid in research efforts to improve understanding of this disease, transgenic murine models have been developed that replicate aspects of AD pathology. Familial AD is associated with mutations in the amyloid precursor protein and in the presenilins (associated with amyloidosis); transgenic amyloid models feature one or more of these mutant genes. Recent advances in seeding methods provide a means to alter the morphology of resultant amyloid deposits and the age that pathology develops. In this review, we discuss the variety of factors that influence the seeding of amyloid beta pathology, including the source of seed, the time interval after seeding, the nature of the transgenic host, and the preparation of the seeding inoculum.
Topics: Alzheimer Disease; Amyloid beta-Peptides; Amyloid beta-Protein Precursor; Amyloidosis; Animals; Brain; Disease Models, Animal; Humans
PubMed: 33588898
DOI: 10.1186/s13024-021-00429-4 -
Current Cardiology Reports Aug 2019We summarize key features pertaining to the two most commonly encountered types of cardiac amyloidosis (CA), monoclonal immunoglobulin light chain (AL) and transthyretin... (Review)
Review
PURPOSE OF REVIEW
We summarize key features pertaining to the two most commonly encountered types of cardiac amyloidosis (CA), monoclonal immunoglobulin light chain (AL) and transthyretin type (ATTR), expanding upon the clinical application and utility of various imaging techniques in diagnosing CA.
RECENT FINDINGS
Advances in imaging have led to earlier identification, improved diagnosis of CA and higher discriminatory power to differentiate CA from other hypertrophic phenocopies. The application of cardiac magnetic resonance imaging (CMR) has led to a deeper understanding of underlying pathophysiological processes in CA, owing largely to its intrinsic tissue characterization properties. The widespread adoption of bone scintigraphy algorithms has reduced the need for cardiac biopsy and improved diagnostic confidence in ATTR CA. As new treatments for CA are rapidly developing, there will be even greater reliance on imaging, as the requirement to diagnose disease earlier, monitor response and amend treatment strategies accordingly intensifies.
Topics: Amyloid Neuropathies, Familial; Amyloidosis; Biopsy; Cardiomyopathies; Humans; Immunoglobulin Light Chains
PubMed: 31375984
DOI: 10.1007/s11886-019-1180-2 -
European Journal of Heart Failure Dec 2022
Topics: Humans; Heart Failure; Amyloidosis; Cardiomyopathies
PubMed: 36093633
DOI: 10.1002/ejhf.2685 -
Acta Gastro-enterologica Belgica 2022Amyloidosis is a very rare condition, which, due to its rarity, is often missed or diagnosed in an advanced stage of the disease, causing significant morbidity and... (Review)
Review
Amyloidosis is a very rare condition, which, due to its rarity, is often missed or diagnosed in an advanced stage of the disease, causing significant morbidity and mortality. In this review we describe the existing types of amyloidosis focusing on the gastro-intestinal tract. Amyloidosis occurs when abnormal protein fibrils (amyloid) deposit in the muscularis mucosae. This can cause an array of symptoms ranging from (in order of occurrence): gastro-intestinal bleeding, heartburn, unintentional weight loss, early satiety, constipation, diarrhea, nausea, vomiting and fecal incontinence (1). Treatment is focused on the underlying condition (if any) causing the production and deposition of the abnormal fibrils, in combination of symptomatic treatment.
Topics: Amyloidosis; Diarrhea; Gastrointestinal Hemorrhage; Humans; Nausea
PubMed: 35304997
DOI: 10.51821/85.1.8499 -
Acta Haematologica 2020Immunoglobulin light-chain (AL) amyloidosis is a systemic disease characterized by the production and deposition of light chain-derived amyloid fibrils in different... (Review)
Review
Immunoglobulin light-chain (AL) amyloidosis is a systemic disease characterized by the production and deposition of light chain-derived amyloid fibrils in different organs. Prompt treatment directed to the underlying plasma cell clone is crucial in order to achieve a rapid, deep and durable hematologic response. The decrease in the production of the amyloidogenic light chains is a required condition to obtain the organ response, which is commonly delayed. Meanwhile, supportive treatment is aimed to maintain quality of life of these patients and preserve their involved organs' function. From simple measures, such as salt restriction or compressive stockings, to very complex interventions, such as heart transplantation in very selected patients with isolated severe cardiac involvement, this supportive care is essential and has to be necessarily included in the multidisciplinary management of this disease.
Topics: Disease Management; Humans; Immunoglobulin Light-chain Amyloidosis; Organ Specificity; Palliative Care
PubMed: 32235118
DOI: 10.1159/000506760 -
International Journal of Molecular... Apr 2023Amyloidosis is a large group of diseases that are caused by the deposition of insoluble amyloid fibrils formed by misfolded soluble proteins in organs or tissues [...].
Amyloidosis is a large group of diseases that are caused by the deposition of insoluble amyloid fibrils formed by misfolded soluble proteins in organs or tissues [...].
Topics: Humans; Amyloidosis; Amyloid
PubMed: 37108144
DOI: 10.3390/ijms24086980 -
International Journal of Molecular... Apr 2021Transthyretin (TTR) is an essential transporter of a thyroid hormone and a holo-retinol binding protein, found abundantly in human plasma and cerebrospinal fluid. In... (Review)
Review
Transthyretin (TTR) is an essential transporter of a thyroid hormone and a holo-retinol binding protein, found abundantly in human plasma and cerebrospinal fluid. In addition, this protein is infamous for its amyloidogenic propensity, causing various amyloidoses in humans, such as senile systemic amyloidosis, familial amyloid polyneuropathy, and familial amyloid cardiomyopathy. It has been known for over two decades that decreased stability of the native tetrameric conformation of TTR is the main cause of these diseases. Yet, mechanistic details on the amyloidogenic transformation of TTR were not clear until recent multidisciplinary investigations on various structural states of TTR. In this review, we discuss recent advancements in the structural understanding of TTR misfolding and amyloidosis processes. Special emphasis has been laid on the observations of novel structural features in various amyloidogenic species of TTR. In addition, proteolysis-induced fragmentation of TTR, a recently proposed mechanism facilitating TTR amyloidosis, has been discussed in light of its structural consequences and relevance to acknowledge the amyloidogenicity of TTR.
Topics: Amyloid; Amyloid Neuropathies, Familial; Animals; Humans; Prealbumin; Protein Folding
PubMed: 33922648
DOI: 10.3390/ijms22094429 -
Internal and Emergency Medicine Oct 2023Cardiac amyloidosis (CA) is an uncommon, progressive, and fatal disease; the two main forms that can affect the heart are transthyretin CA and light chain CA (AL-CA).... (Review)
Review
Cardiac amyloidosis (CA) is an uncommon, progressive, and fatal disease; the two main forms that can affect the heart are transthyretin CA and light chain CA (AL-CA). AL-CA is a medical urgency for which a diagnostic delay can be catastrophic for patients' outcome. In this manuscript, we focus on the pearls and pitfalls that are relevant to achieve a correct diagnosis and to avoid diagnostic and therapeutical delays. Through the aid of three unfortunate clinical cases, some fundamental diagnostic aspects are addressed, including the following: first, a negative bone scintigraphy does not exclude CA, with patients with AL-CA frequently showing no or mild cardiac uptake, and its execution should not delay hematological tests; second, fat pad biopsy does not have a 100% sensitivity for AL amyloidosis and, if negative, further investigations should be performed, particularly if the pre-test probability is high. Third, Congo Red staining is not sufficient to reach a definitive diagnosis and amyloid fibrils typing with mass spectrometry, immunohistochemistry, or immunoelectron microscopy is crucial. To achieve a timely and correct diagnosis, all the necessary investigations must be performed, always considering the yield and diagnostic accuracy of each examination.
Topics: Humans; Delayed Diagnosis; Amyloidosis; Immunoglobulin Light-chain Amyloidosis; Biopsy; Congo Red; Cardiomyopathies
PubMed: 37338717
DOI: 10.1007/s11739-023-03335-3