central core disease

WordNet

1. remove the core or center from; "core an apple"
2. (computer science) a tiny ferrite toroid formerly used in a random access memory to store one bit of data; now superseded by semiconductor memories; "each core has three wires passing through it, providing the means to select and detect the contents of each bit" (同)magnetic core
3. a bar of magnetic material (as soft iron) that passes through a coil and serves to increase the inductance of the coil
4. the chamber of a nuclear reactor containing the fissile material where the reaction takes place
5. a small group of indispensable persons or things; "five periodicals make up the core of their publishing program" (同)nucleus, core group
6. a cylindrical sample of soil or rock obtained with a hollow drill
7. the center of an object; "the ball has a titanium core"
8. the central part of the Earth
9. an impairment of health or a condition of abnormal functioning
10. in or near a center or constituting a center; the inner area; "a central position"
11. a workplace that serves as a telecommunications facility where lines from telephones can be connected together to permit communication (同)telephone exchange, exchange
12. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. 〈C〉(果物の)『しん』 / 〈U〉(物事の)核心 / 〈C〉(電気の)磁心,磁極鉄心 / …‘の'しんを抜く
2. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
3. 女性の話術芸人 =diseur
4. 『中心の』,中央の,中心からの / 『主要な』,中心的な(main) / (音声が)中舌音の / 電話交換局(《英》[telephone]exchange)
5. 病気にかかった / 病的な,不健全な(morbid)
6. (驚いて)わあっ,えっ

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/08/20 04:42:51」(JST)

wiki en

[Wiki en表示]

Central Core Disease Central core myopathy
Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may occasionally be multiple and of eccentric location.
Specialty	Neurology

Central core disease (CCD), also known as central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956. It is characterized by the appearance of the myofibril under the microscope.

Signs and symptoms

The symptoms of CCD are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.

Symptoms may be present at birth or may appear at any stage of life. There appears to be a growing number of people who do not become symptomatic until adulthood to middle age. While generally not progressive, again there appears to be a growing number of people who do experience a slow clinically significant progression of symptomatology. These cases may hypothetically be due to the large number of gene mutations of ryanodine receptor malfunction, and with continued research may in fact be found to be clinical variants.

Pathophysiology

Central core disease has an autosomal dominant pattern of inheritance.

Central core disease is inherited in an autosomal dominant fashion. Most cases have demonstrable mutations in the ryanodine receptor type 1 (RYR1) gene, which are often de novo (newly developed). People with CCD are at risk for malignant hyperthermia (MH) when receiving general anesthesia.

Diagnosis

The diagnosis is made on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes.

Respiratory insufficiency develops in a small proportion of cases. Creatine kinase tend to be normal and electromyography (EMG) shows short duration, short amplitude motor unit action potentials.

Treatment

There is no specific treatment but triggering anesthetics are avoided and relatives are screened for RYR1 mutations as these may make them susceptible to MH.

External links

Classification	D ICD-10: G71.2 ICD-9-CM: 359.0 OMIM: 117000 MeSH: D020512
External resources	eMedicine: neuro/76 GeneReviews: NBK1391

UpToDate Contents

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• 1. 先天性ミオパシー congenital myopathies
• 2. 悪性高熱症の易罹患性：評価およびマネージメント susceptibility to malignant hyperthermia evaluation and management
• 3. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 4. 脊髄性筋萎縮症 spinal muscular atrophy
• 5. 成人における重度非労作性高熱（古典的熱中症） severe nonexertional hyperthermia classic heat stroke in adults

English Journal

• Meisoindigo, but not its core chemical structure indirubin, inhibits zebrafish interstitial leukocyte chemotactic migration.

• Ye B1,2, Xiong X3, Deng X4, Gu L5, Wang Q1, Zeng Z6, Gao X5, Gao Q1, Wang Y2.
• Pharmaceutical biology.Pharm Biol.2017 Dec;55(1):673-679.
• PMID 27981893

• Kinetics-mediate fabrication of multi-model bioimaging lanthanide nanoplates with controllable surface roughness for blood brain barrier transportation.

• Wang P1, Wang C1, Lu L1, Li X2, Wang W1, Zhao M1, Hu L1, El-Toni AM3, Li Q4, Zhang F5.
• Biomaterials.Biomaterials.2017 Oct;141:223-232. doi: 10.1016/j.biomaterials.2017.06.040. Epub 2017 Jun 29.
• PMID 28692944

• Dissection of Regulatory Elements During Direct Conversion of Somatic Cells Into Neurons.

• Soleimani T1, Falsafi N1, Fallahi H1.
• Journal of cellular biochemistry.J Cell Biochem.2017 Oct;118(10):3158-3170. doi: 10.1002/jcb.25944. Epub 2017 Jun 7.
• PMID 28230276

Japanese Journal

• セントラルコア病を有する脊柱側彎症の側彎矯正手術の麻酔経験

• 山田 直人,田村 雄一郎,石川 高 [他]
• 麻酔 60(4), 473-475, 2011-04
• NAID 40018793879

Related Links

• Central core disease - Genetics Home Reference

Central core disease is a disorder that affects muscles used for movement (skeletal muscles). This condition causes muscle weakness that ranges from almost unnoticeable to very severe. Most people with central core ...

• Central Core Disease - GeneReviews® - NCBI Bookshelf

Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck ...

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★リンクテーブル★

リンク元	「central core myopathy」「中心コア病」「セントラルコア病」
関連記事	「disease」「central」「cor」「core」

「central core myopathy」

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中心コアミオパチー、セントラルコアミオパチー

関

central core disease

「中心コア病」

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英

central core disease

関

セントラルコア病、中心コアミオパチー

「セントラルコア病」

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英

central core disease

関

中心コア病

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「central」

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• adj.

• 中心の、中心的な、中心性の、中枢的な、中枢性の、中枢の、中枢神経性の

関

center、centrally、centrally acting、centre、centro、centrum、hub、medial、pivotal、pivotally

　 　 　

「cor」

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• n. (pl. cordia

• 心臓

関

(n.)precordia 前胸部、(adj.)precordial 前胸部の

　

「core」

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