Isolated orbital amyloidosis causing internal and external ophthalmoplegia

Source: Journal of AAPOS - Category: Opthalmology Authors: Tags: Short Report Source Type: research

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Publication date: Available online 17 January 2020Source: Canadian Journal of CardiologyAuthor(s): Sarah AM. Cuddy, Rodney H. FalkAbstractThe systemic amyloidoses are a group of diseases, all characterized by the deposition of amyloid, a material formed from misfolding of proteins, in one or more organs. The 2 commonest forms of amyloidosis, transthyretin amyloidosis (derived from wild-type {ATTRwt} or mutant transthyretin {ATTRm}) and light chain (AL) amyloidosis, derived from abnormal circulating light chains produced by a plasma cell dyscrasia. Both frequently involve the heart, producing an infiltrative cardiomyopathy ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
Publication date: January 2020Source: Journal of Comparative Pathology, Volume 174Author(s): C. Bianco, P. Sanchez-Cordon, R. Verin, A. Godinho, U. Weyer, S. Lesellier, J. Spiropoulos, T. Floyd, D. Everest, A. Nunez
Source: Journal of Comparative Pathology - Category: Pathology Source Type: research
Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological si...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
We examined 66 BM biopsies positive for amyloid with regard to the location and type of amyloid, the percentage and clonality of plasma cells, other organ involvement, and relevant clinical information. RESULTS.—: In 21 cases, amyloid deposits involved BM stroma, whereas 45 cases were nonstromal. All cases of stromal involvement were typed as AL amyloidosis (or presumed AL), whereas nonstromal involvement was associated with at least 3 types of amyloidosis: AL, ATTR, and AA. The initial diagnosis of amyloidosis was made in a BM specimen in 21 of 66 cases (31.8%). Plasma cells ranged from 1% to 80% (mean, 13.4%; median, 8%;
Source: Archives of Pathology and Laboratory Medicine - Category: Laboratory Medicine Authors: Tags: Arch Pathol Lab Med Source Type: research
AbstractCurrent echocardiography techniques have allowed more precise assessment of cardiac structure and function of the several types of cardiomyopathies. Parameters derived from echocardiographic tissue imaging (ETI) —tissue Doppler, strain, strain rate, and others—are extensively used to provide a framework in the evaluation and management of cardiomyopathies. Generally, myocardial function assessed by ETI is depressed in all types of cardiomyopathies, non-ischemic dilated cardiomyopathy (DCM) in particular . In hypertrophic cardiomyopathy (HCM), ETI is useful to identify subclinical disease in family membe...
Source: Heart Failure Reviews - Category: Cardiology Source Type: research
Abstract AIMS: To investigate the relationship between the ophthalmic and systemic phenotypes in patients with hereditary transthyretin amyloidosis with the S77Y mutation (ATTRS77Y). METHODS: In this cross-sectional study, patients with genetically confirmed ATTRS77Y amyloidosis were enrolled. All patients underwent complete neurological examination, including staging with the Neuropathy Impairment Score (NIS), Polyneuropathy Disability (PND) score; complete cardiological evaluation, including echocardiography, cardiac MRI and/or cardiac scintigraphy and complete ophthalmic evaluation, including slit lamp exa...
Source: The British Journal of Ophthalmology - Category: Opthalmology Authors: Tags: Br J Ophthalmol Source Type: research
AbstractFamilial Mediterranean Fever, a monogenic autoinflammatory disease secondary to MEFV gene mutations in the chromosome 16p13, is characterized by recurrent self-limiting attacks of fever, arthritis, aphthous changes in lips and/or oral mucosa, erythema, serositis. It is caused by dysregulation of the inflammasome, a complex intracellular multiprotein structure, commanding the overproduction of interleukin 1. Familial Mediterranean Fever can be associated with other multifactorial autoinflammatory diseases, as vasculitis and Beh çet disease.Symptoms frequently start before 20  years of age and are chara...
Source: Italian Journal of Pediatrics - Category: Pediatrics Source Type: research
Condition:   Cardiac Amyloidosis Intervention:   Sponsor:   University Hospital, Grenoble Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Authors: Fauter M, Gerfaud-Valentin M, Delplanque M, Georgin-Lavialle S, Sève P, Jamilloux Y Abstract Adult-onset Still's disease (AOSD), first described in 1971 by Bywaters, is a rare systemic auto-inflammatory disorder of unknown etiology, characterized by a symptomatic triad associating prolonged fever, polyarthritis and rash. The management of this disease has significantly improved since its first description, and, although the overall prognosis of the AOSD is good, with a low attributable mortality, below 3% (but up to 18% depending on the series), some rare complications are still possible, can be lif...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
Source: Journal of Nuclear Cardiology - Category: Nuclear Medicine Source Type: research
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