WordNet
- a skin problem marked by the development (on the eyelids and neck and back) of irregular yellow nodules; sometimes attributable to disturbances of cholesterol metabolism
- consisting of tendons or resembling a tendon (同)sinewy
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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/10/01 20:07:06」(JST)
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- 1. LDLコレステロール代謝の遺伝性疾患 inherited disorders of ldl cholesterol metabolism
- 2. 若年性黄色肉芽腫（JXG） juvenile xanthogranuloma jxg
- 3. 原発性胆汁性肝硬変の治療の概要 overview of the treatment of primary biliary cirrhosis
- 4. 脳腱黄色腫症 cerebrotendinous xanthomatosis
- 5. ガングリオンと結節 ganglia and nodules
English Journal
- Cerebrotendinous xanthomatosis.
- Björkhem I.Author information Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. ingemar.bjorkhem@karolinska.seAbstractPURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain was recently clarified and a role of 27-hydroxycholesterol as a regulator of brain cholesterol homeostasis has been established.
- Current opinion in lipidology.Curr Opin Lipidol.2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13.
- PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). The mechanism behind the accumulation of cholestanol in the brain
- PMID 23759795
- First case report of familial hypercholesterolemia in an Omani family due to novel mutation in the low-density lipoprotein receptor gene.
- Al-Hinai AT, Al-Abri A, Al-Dhuhli H, Al-Waili K, Al-Sabti H, Al-Yaarubi S, Al-Hashmi K, Banerjee Y, Al-Zakwani I, Al-Rasadi K.Author information Department of Medicine, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.AbstractFamilial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani family due to a novel mutation in the LDLR gene. A 9-year-old female was referred to our lipid clinic with eye xanthelasmata and thickening of both Achilles tendons. Evaluation of the lipid profile showed the off treatment total cholesterol of 896 mg/dL (23.2 mmol/L), low-density lipoprotein cholesterol (LDL-C) of 853 mg/dL (22.1 mmol/L), APOB of 4.5 g/L, triglyceride of 71 mg/dL (0.8 mmol/L), and high-density lipoprotein cholesterol of 0.74 mmol/L. Genetic analysis of the LDLR gene showed a homozygous frameshift deletion mutation (272delG) at exon 3. The female patient was treated with a combination of rosuvastatin/ezetimibe and LDL apheresis.
- Angiology.Angiology.2013 May;64(4):287-92. doi: 10.1177/0003319712465171. Epub 2012 Nov 15.
- Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report the first case of FH in an Omani fam
- PMID 23162007
- Lipid-associated rheumatologic syndromes.
- Kedar E, Gardner GC.Author information Division of Rheumatology, University of Washington, Box 356428, Seattle, WA 98195, USA.AbstractRheumatologic manifestations of hyperlipidemia and lipid-associated arthritis are rarely seen in the rheumatologist's office. On the other hand, a rheumatologist may be the clinician who identifies and initiates proper therapy for disorders related to hyperlipidemia when the musculoskeletal manifestations of these syndromes are recognized. In this article both the joint and tendon manifestations are reviewed, including the lesser known lipid liquid crystal form of arthritis. The relationship between gout and hyperuricemia is briefly discussed, as are the autoimmune manifestations of lipid-lowering therapy.
- Rheumatic diseases clinics of North America.Rheum Dis Clin North Am.2013 May;39(2):481-93. doi: 10.1016/j.rdc.2013.02.014. Epub 2013 Mar 19.
- Rheumatologic manifestations of hyperlipidemia and lipid-associated arthritis are rarely seen in the rheumatologist's office. On the other hand, a rheumatologist may be the clinician who identifies and initiates proper therapy for disorders related to hyperlipidemia when the musculoskeletal manifest
- PMID 23597975
Japanese Journal
- 高HDL血症に合併した腱黄色腫の1例
- 藤渕 剛次,坂山 憲史,木谷 彰岐,亀井 節也,相澤 淳一,山本 晴康
- 中部日本整形外科災害外科学会雑誌. 中部日本整形外科災害外科学会抄録 52(6), 1403-1404, 2009-11-01
- NAID 10026235351
- 遺伝性高脂血症ウサギの四肢における腱黄色腫の病態 : 組織形態学的および免疫組織学的観察
- 中野 敦之,木下 光雄,奥田 龍三,安田 稔人,阿部 宗昭,塩見 雅志
- 日本整形外科學會雜誌 = The Journal of the Japanese Orthopaedic Association 80(2), 235, 2006-02-25
- NAID 10017505606
- Pathogenesis of tendinous xanthoma : histopathological study of the extremities of Watanabe heritable hyperlipidemic rabbits
- NAKANO ATSUSHI,KINOSHITA MITSUO,OKUDA RYUZO,YASUDA TOSHITO,ABE MUNEAKI,SHIOMI MASASHI
- Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association 11(1), 75-80, 2006-01-01
- NAID 10017328904
Related Links
- ten·di·nous xan·tho·ma xanthoma involving tendons, ligaments, and fascia, forming deep, smooth, sometimes painful nodules beneath normal-appearing freely movable skin of the extremities; associated with abnormal lipid ...
- Tendinous Xanthoma KVS Hari Kumar*, AKGhosh **, K Kiran Kumar***, P Prusty**** Fig. 1 : Tendinous xanthoma Fig. 2 : Planar and tendinous xanthomas over elbows Fig. 3 : Planar xanthomas over right thigh A 45 year old lady ...
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★リンクテーブル★
| リンク元 | 「腱黄色腫」 |
| 関連記事 | 「xantho」 |