Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis

The diagnostic accuracy of histopathological detection of transthyretin amyloid (ATTR) by Congo red staining of abdominal fat samples has been questioned since low sensitivity has been reported, especially for...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research

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Abstract Tracheobronchopathia osteochondroplastica (TPO) is an idiopathic disease involving the cartilage rings of the large airway, characterized by submucosal calcified nodules. Localized tracheobronchial amyloidosis (TBA) is another rare disease with localized amyloid deposits in the tracheobronchial tree. The two diseases rarely coincide, and only a few case reports and series have been reported. A patient with dyspnea was referred to our clinic for suspicion of TBA. Chest computed tomography (CT) scan showed marked thickening of the tracheobronchial wall with calcified endobronchial submucosal nodules. The no...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Respir Med Case Rep Source Type: research
Immunoglobulin light chain (AL) amyloidosis is a rare, multi-systemic disorder characterized by two disease processes: an underlying plasma cell dyscrasia that provides the source of pathologic light chains, a...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
ABSTRACT Most patients affected by glycogen storage disease type 1a (GSD1a), an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α), develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma. The purpose of this study was to identify potential biomarkers of the pathophysiology of the GSD1a-affected liver. To this end, we used the plasma exosomes of a murine model of GSD1a, the LS-G6pc–/– mouse, to uncover the modulation in microRNA expression associated with the disease. The microRNAs differentially expressed be...
Source: DMM Disease Models and Mechanisms - Category: Biomedical Science Authors: Tags: Rare diseases RESEARCH ARTICLE Source Type: research
We report a case of a 68 year old male with a history of cutaneous amyloid with late presentation of bilateral ureteral involvement.
Source: Urology - Category: Urology & Nephrology Authors: Tags: Clinical Challenges in Urology Source Type: research
AbstractPurpose of ReviewTo provide a functional review for practicing clinicians on the current and emerging treatment considerations for transthyretin (TTR) cardiac amyloidosis (ATTR-CA).Recent FindingsCurrent treatment considerations are characterized as those silencing TTR translation, stabilizing TTR tetramers, and disrupting amyloid fibril deposition.SummaryHistorically considered a rare disease state, ATTR-CA is increasingly recognized as an important mediator of heart failure morbidity and mortality. The emergence of widely available therapies for ATTR-CA has developed hope for patients where little was previously ...
Source: Current Cardiology Reports - Category: Cardiology Source Type: research
We describe three cases who presented with haemoptysis, which on further evaluation were diagnosed as isolated tracheobronchial amyloidosis, and a review of literature. AbstractAmyloidosis is an uncommon heterogeneous and multi ‐systemic disease characterized by extracellular amyloid deposition. The size of proteins varies and forms a part of local disease or systemic process. Light chain amyloidosis (AL) is the most prevalent form of systemic amyloidosis which may also be seen in localized disease. Isolated tracheobronc hial amyloidosis (TBA) is rather unusual with local amyloid deposition which may pose a diagnostic di...
Source: Respirology Case Reports - Category: Respiratory Medicine Authors: Tags: Case Series Source Type: research
Source: Journal of Nuclear Cardiology - Category: Nuclear Medicine Source Type: research
Patisiran, an RNA interference therapeutic, has demonstrated robust reduction of wild-type and mutant transthyretin protein and was able to improve polyneuropathy and quality of life following 18  months of tre...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Authors: Romero-Caballero MD, Pozo-Lorenzo FJ, Berrio-Campos R, Quilez-Franco P, Pastor-Quirante FA Abstract Primary conjunctival amyloidosis is a rare disease of unknown origin, secondary to the deposit of amyloid material within the conjunctiva itself, producing a tumour. In the case presented, the concurrence of allergic conjunctivitis and chronic eye scratching could be triggers of the excessive production of immunoglobulins. The deposit of insoluble immunoglobulin light chains located within the conjunctiva itself causes this conjunctival mass. PMID: 32616371 [PubMed - as supplied by publisher]
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
lu Y Abstract Cardiac amyloidosis (CA) is a progressive infiltrative cardiomyopathy. Amyloid fibrils in the form of misfolded endogenous proteins accumulate in the heart, as well as the kidneys, liver, and gastrointestinal tract. The most common forms of CA are transthyretin (TTR) and immunoglobulin light chain amyloidosis (AL). CA has long been thought to be a rare disease. However, recent reports have suggested that 13% of heart failure patients with a preserved ejection fraction and 16% of advanced-age patients with severe aortic stenosis have TTR-CA. Patients with TTR-CA have a poor prognosis, with a median s...
Source: Turk Kardiyoloji Dernegi arsivi - Category: Cardiology Authors: Tags: Turk Kardiyol Dern Ars Source Type: research
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