AFアミロイドーシス
WordNet
- the 1st letter of the Roman alphabet (同)a
- the blood group whose red cells carry the A antigen (同)type_A, group A
- a disorder characterized by deposit of amyloid in organs or tissues; often secondary to chronic rheumatoid arthritis or tuberculosis or multiple myeloma
PrepTutorEJDIC
- answer / ampere
UpToDate Contents
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English Journal
- An N-terminal pro-atrial natriuretic peptide (NT-proANP) 'aggregation-prone' segment involved in isolated atrial amyloidosis.
- Louros NN1, Iconomidou VA1, Tsiolaki PL1, Chrysina ED2, Baltatzis GE3, Patsouris ES3, Hamodrakas SJ4.Author information 1Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Panepistimiopolis, Athens 157 01, Greece.2Institute of Biology, Medicinal Chemistry and Biotechnology, National Hellenic Research Foundation, 48 Vassileos Constantinou Avenue, Athens 116 35, Greece.31st Department of Pathology, Medical School, University of Athens, 75 Mikras Assias, Goudi 115 27, Greece.4Department of Cell Biology and Biophysics, Faculty of Biology, University of Athens, Panepistimiopolis, Athens 157 01, Greece. Electronic address: shamodr@biol.uoa.gr.AbstractIsolated atrial amyloidosis (IAA) is a common localized form of amyloid deposition within the atria of the aging heart. The main constituents of amyloid fibrils are atrial natriuretic peptide (ANP) and the N-terminal part of its precursor form (NT-proANP). An 'aggregation-prone' heptapeptide ((114)KLRALLT(120)) was located within the NT-proANP sequence. This peptide self-assembles into amyloid-like fibrils in vitro, as electron microscopy, X-ray fiber diffraction, ATR FT-IR spectroscopy and Congo red staining studies reveal. Consequently, remedies/drugs designed to inhibit the aggregation tendency of this 'aggregation-prone' segment of NT-proANP may assist in prevention/treatment of IAA, congestive heart failure (CHF) or atrial fibrillation (AF).
- FEBS letters.FEBS Lett.2014 Jan 3;588(1):52-7. doi: 10.1016/j.febslet.2013.10.049. Epub 2013 Nov 9.
- Isolated atrial amyloidosis (IAA) is a common localized form of amyloid deposition within the atria of the aging heart. The main constituents of amyloid fibrils are atrial natriuretic peptide (ANP) and the N-terminal part of its precursor form (NT-proANP). An 'aggregation-prone' heptapeptide ((114)K
- PMID 24220659
- Fundus autofluorescence imaging in hereditary ATTR amyloidosis with ocular involvement.
- Veronese C, Marcheggiani EB, Tassi F, Gallelli I, Armstrong GW, Ciardella AP.Author information Ophthalmology Unit, S. Orsola-Malpighi Hospital, University of Bologna , Bologna , Italy .AbstractFundus autofluorescence (AF) is a non-invasive technique for the evaluation of intrinsic autofluorescence of the tissues within the eye. In recent years, autofluorescence has become an important diagnostic tool for the assessment of various ocular diseases. A previous study has found that ex vivo Aβ amyloid plaques in the retina of a transgenic mouse model appear hyper-autofluorescent (hyper-AF) under specific wavelengths (excitation at 830 nm, emission at 630). We report the first description of hyper-AF ocular findings in a case of transthyretin-related familial amyloid polyneuropathy (FAP) associated with ocular involvement using AF imaging. A 47-year-old woman from Italy presented to our institution with a history of early onset FAP with ocular involvement due to the rare amyloidogenic transthyretin Glu54Lys mutation. AF imaging showed hyper-AF amyloid deposits associated with retinal vessels in both eyes and a hyper-AF amyloid deposit anterior to the optic disk in the right eye.
- Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2013 Dec;20(4):269-71. doi: 10.3109/13506129.2013.823082. Epub 2013 Aug 1.
- Fundus autofluorescence (AF) is a non-invasive technique for the evaluation of intrinsic autofluorescence of the tissues within the eye. In recent years, autofluorescence has become an important diagnostic tool for the assessment of various ocular diseases. A previous study has found that ex vivo A�
- PMID 23905621
- [Atrial fibrillation and genetic abnormalities].
- Shimizu W.Author information Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center.AbstractAtrial fibrillation (AF) is one of the most common arrhythmias, especially in elderly subjects. During the last decade, the contribution of genetic factors in pathogenesis of AF has been focused. Three categories of genetic patterns are considered to relate to AF: (1) familial AF as a monogenic disease, (2) familial AF presenting in the setting of another inherited cardiac diseases (hypertrophic cardiomyopathy, dilated cardiomyopathy, familial amyloidosis) or another inherited arrhythmic syndromes (congenital long QT syndrome, short QT syndrome, Brugada syndrome), and (3) non-familial AF associated with genetic backgrounds that may predispose to AF, such as a polymorphism in the ACE gene. More recently, the genome-wide association study (GWAS) has identified several genomic regions associated with AF. In this review article, genetic backgrounds underlying familial and non-familial AF will be discussed.
- Nihon rinsho. Japanese journal of clinical medicine.Nihon Rinsho.2013 Jan;71(1):161-6.
- Atrial fibrillation (AF) is one of the most common arrhythmias, especially in elderly subjects. During the last decade, the contribution of genetic factors in pathogenesis of AF has been focused. Three categories of genetic patterns are considered to relate to AF: (1) familial AF as a monogenic dise
- PMID 23631189
Japanese Journal
- 特定疾患対策研究班「アミロイドーシス」,「特発性心筋症」,「難治性血管炎」の現状と今後の方向
Related Links
- AF Amyloidosis Studies on the familial forms of systemic amyloidosis are aimed at understanding the pathogenetic mechanism by which normally soluble proteins form insoluble amyloid fibrils and extracellular tissue deposits.
- Download an order form Send a check to support AF Print our contribution form (PDF Format) and mail it with your check or money order (US Dollars) to: Amyloidosis Foundation, Inc. 7151 N. Main St. Suite 2 Clarkston, MI 48346
★リンクテーブル★
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- 英
- familial amyloidosis
- 同
- 遺伝性アミロイドーシス hereditary amyloidosis、AF amyloidosis
- 関
- アミロイドーシス
概念
- variant plasma proteinがアミロイドとして沈着することにより発症するアミロイドーシスの一型。
分類
遺伝形式
疫学
- HIM.2148
- まれ、罹患率<1/10万人
- 中年発症
- (Ile122変異の型は)アフリカ系アメリカ人に多く、変異の頻度は4%である。
症候
- HIM.2148
- 感覚神経と運動神経を冒すような下肢の末梢ニューロパチーで発症し、上肢に及ぶ。自律神経症状は消化管症状(体重減少を伴う下痢)や起立性低血圧がある。
- 家族性アミロイド心筋症(familial amyloidotic cardiomyopathy)
臨床関連
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アミロイドーシス アミロイド症
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心房粗動 atrial flutter