WordNet
- bring disorder to (同)disarray
- a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
- a disturbance of the peace or of public order
- of or relating to or consisting of muscle; "muscular contraction"
- having or suggesting great physical power or force; "the muscular and passionate Fifth Symphony"
- not arranged in order (同)unordered
PrepTutorEJDIC
- 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
- 『助肉の』,筋肉でできた / 筋肉による / 筋肉の発達した
UpToDate Contents
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- 1. 脊髄性筋萎縮症 spinal muscular atrophy
- 2. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
- 3. エメリー‐ドレフェス型筋ジストロフィー emery dreifuss muscular dystrophy
- 4. ゲノム疾患：概要 genomic disorders an overview
- 5. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
English Journal
- Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2.
- Carpentier C1, Ghanem D1, Fernandez-Gomez FJ1, Jumeau F1, Philippe JV2, Freyermuth F3, Labudeck A1, Eddarkaoui S1, Dhaenens CM1, Holt I4, Behm-Ansmant I2, Marmier-Gourrier N2, Branlant C2, Charlet-Berguerand N3, Marie J5, Schraen-Maschke S1, Buée L1, Sergeant N6, Caillet-Boudin ML7.Author information 1Inserm UMR837-1 and Univ. Lille Nord de France, Jean-Pierre Aubert Research Center, Alzheimer & Tauopathies, F-59045 Lille, France; Regional University Hospital of Lille, France.2Laboratory of Molecular Engineering and Articular Pathophysiology (IMoPA), Nancy University - CNRS, UMR 7214, 7365 Vandoeuvre-les-Nancy, France.3Department de Neurobiology & Genetics, IGBMC, Inserm U964, CNRS UMR7104, University of Strasbourg, Illkirch, France.4Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, Shropshire, UK; Institute for Science and Technology in Medicine, Keele University, Keele, Staffordshire, UK.5Therapy of muscular diseases - Myology Institute, UPMC Univ. Paris 6, UM76/Inserm, U974/CNRS, UMR 7215, G.H. Pitié-Salpétrière - Bâtiment Babinski, Paris, France.6Inserm UMR837-1 and Univ. Lille Nord de France, Jean-Pierre Aubert Research Center, Alzheimer & Tauopathies, F-59045 Lille, France; Regional University Hospital of Lille, France. Electronic address: nicolas.sergeant@inserm.fr.7Inserm UMR837-1 and Univ. Lille Nord de France, Jean-Pierre Aubert Research Center, Alzheimer & Tauopathies, F-59045 Lille, France; Regional University Hospital of Lille, France. Electronic address: marie-laure.caillet@inserm.fr.AbstractThe splicing of the microtubule-associated protein Tau is regulated during development and is found to be deregulated in a growing number of pathological conditions such as myotonic dystrophy type I (DM1), in which a reduced number of isoforms is expressed in the adult brain. DM1 is caused by a dynamic and unstable CTG repeat expansion in the DMPK gene, resulting in an RNA bearing long CUG repeats (n>50) that accumulates in nuclear foci and sequesters CUG-binding splicing factors of the muscleblind-like (MBNL) family, involved in the splicing of Tau pre-mRNA among others. However, the precise mechanism leading to Tau mis-splicing and the role of MBNL splicing factors in this process are poorly understood. We therefore used new Tau minigenes that we developed for this purpose to determine how MBNL1 and MBNL2 interact to regulate Tau exon 2 splicing. We demonstrate that an intronic region 250 nucleotides downstream of Tau exon 2 contains cis-regulatory splicing enhancers that are sensitive to MBNL and that bind directly to MBNL1. Both MBNL1 and MBNL2 act as enhancers of Tau exon 2 inclusion. Intriguingly, the interaction of MBNL1 and MBNL2 is required to fully reverse the mis-splicing of Tau exon 2 induced by the trans-dominant effect of long CUG repeats, similar to the DM1 condition. In conclusion, both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both.
- Biochimica et biophysica acta.Biochim Biophys Acta.2014 Apr;1842(4):654-64. doi: 10.1016/j.bbadis.2014.01.004. Epub 2014 Jan 14.
- The splicing of the microtubule-associated protein Tau is regulated during development and is found to be deregulated in a growing number of pathological conditions such as myotonic dystrophy type I (DM1), in which a reduced number of isoforms is expressed in the adult brain. DM1 is caused by a dyna
- PMID 24440524
- Distinct roles of TRAF6 at early and late stages of muscle pathology in the mdx model of Duchenne muscular dystrophy.
- Hindi SM1, Sato S, Choi Y, Kumar A.Author information 1Anatomical Sciences and Neurobiology, University of Louisville School of Medicine, Louisville, KY 40202, USA and.AbstractDuchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by loss of functional dystrophin protein. Accumulating evidence suggests that the deficiency of dystrophin leads to aberrant activation of many signaling pathways which contribute to disease progression. However, the proximal signaling events leading to the activation of various pathological cascades in dystrophic muscle remain less clear. TNF receptor-associated factor 6 (TRAF6) is an adaptor protein which acts as a signaling intermediate for several receptor-mediated signaling events leading to the context-dependent activation of a number of signaling pathways. TRAF6 is also an E3 ubiquitin ligase and an important regulator of autophagy. However, the role of TRAF6 in pathogenesis of DMD remains unknown. Here, we demonstrate that the levels and activity of TRAF6 are increased in skeletal muscle of mdx (a mouse model of DMD) mice. Targeted deletion of TRAF6 improves muscle strength and reduces fiber necrosis, infiltration of macrophages and the activation of proinflammatory transcription factor nuclear factor-kappa B (NF-κB) in 7-week-old mdx mice. Ablation of TRAF6 also increases satellite cells proliferation and myofiber regeneration in young mdx mice. Intriguingly, ablation of TRAF6 exacerbates muscle injury and increases fibrosis in 9-month-old mdx mice. TRAF6 inhibition reduces the markers of autophagy and Akt signaling in dystrophic muscle of mdx mice. Collectively, our study suggests that while the inhibition of TRAF6 improves muscle structure and function in young mdx mice, its continued inhibition causes more severe myopathy at later stages of disease progression potentially through repressing autophagy.
- Human molecular genetics.Hum Mol Genet.2014 Mar 15;23(6):1492-505. doi: 10.1093/hmg/ddt536. Epub 2013 Oct 24.
- Duchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by loss of functional dystrophin protein. Accumulating evidence suggests that the deficiency of dystrophin leads to aberrant activation of many signaling pathways which contribute to disease progression. However, the proximal sign
- PMID 24163132
- The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.
- Cooper-Knock J1, Shaw PJ, Kirby J.Author information 1Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK.AbstractThe GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common cause of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and ALS-FTLD, as well as contributing to sporadic forms of these diseases. Screening of large cohorts of ALS and FTLD cohorts has identified that C9ORF72-ALS is represented throughout the clinical spectrum of ALS phenotypes, though in comparison with other genetic subtypes, C9ORF72 carriers have a higher incidence of bulbar onset disease. In contrast, C9ORF72-FTLD is predominantly associated with behavioural variant FTD, which often presents with psychosis, most commonly in the form of hallucinations and delusions. However, C9ORF72 expansions are not restricted to these clinical phenotypes. There is a higher than expected incidence of parkinsonism in ALS patients with C9ORF72 expansions, and the G4C2 repeat has also been reported in other motor phenotypes, such as primary lateral sclerosis, progressive muscular atrophy, corticobasal syndrome and Huntington-like disorders. In addition, the expansion has been identified in non-motor phenotypes including Alzheimer's disease and Lewy body dementia. It is not currently understood what is the basis of the clinical variation seen with the G4C2 repeat expansion. One potential explanation is repeat length. Sizing of the expansion by Southern blotting has established that there is somatic heterogeneity, with different expansion lengths in different tissues, even within the brain. To date, no correlation with expansion size and clinical phenotype has been established in ALS, whilst in FTLD only repeat size in the cerebellum was found to correlate with disease duration. Somatic heterogeneity suggests there is a degree of instability within the repeat and evidence of anticipation has been reported with reducing age of onset in subsequent generations. This variability/instability in expansion length, along with its interactions with environmental and genetic modifiers, such as TMEM106B, may be the basis of the differing clinical phenotypes arising from the mutation.
- Acta neuropathologica.Acta Neuropathol.2014 Mar;127(3):333-45. doi: 10.1007/s00401-014-1251-9. Epub 2014 Feb 4.
- The GGGGCC (G4C2) repeat expansion in C9ORF72 is the most common cause of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and ALS-FTLD, as well as contributing to sporadic forms of these diseases. Screening of large cohorts of ALS and FTLD cohorts has identified th
- PMID 24493408
Japanese Journal
- Automatic Quantification of Muscular Activity in Rapid Eye Movement Sleep
- , , ,
- Advanced Biomedical Engineering 4(0), 7-11, 2015
- … Atonia during rapid eye movement (REM) sleep is absent in patients with REM sleep behavior disorder (RBD), a phenomenon called REM sleep without atonia (RWA). … Hilbert transform and average rectification were used to calculate the amplitudes of phasic and tonic muscular activities, respectively. …
- NAID 130005001712
- 線維筋痛症と精神疾患のcomorbidityについて(精神科疾患とのcomorbidityが問題となる身体科疾患,2013年,第54回日本心身医学会総会ならびに学術講演会(横浜))
- 村上 正人,金 外叔,松野 俊夫,小池 一喜,三浦 勝浩,丸岡 秀一郎,江花 昭一
- 心身医学 54(11), 1010-1019, 2014-11-01
- 線維筋痛症(以下,FM)は全身の広範囲の筋骨格系の疼痛を特徴とする慢性疼痛のモデル的疾患であるが,痛み以外にも慢性的な頭痛,易疲労性,過敏性胃腸障害,月経関連障害,めまい・耳鳴,排尿障害などの不定愁訴が多く,精神・神経症状として睡眠障害,神経過敏,抑うつ,不安・過緊張などがある.FMの発症や臨床経過には遺伝的背景や個人的な体質に加え,心身の疲弊や過労,何らかの肉体的疾病や外傷性イベントなどの外的要 …
- NAID 110009865703
- 病態水準による治療者という鏡の使用の相違 -ナルキッソスの神話を素材に-
- 木下 直紀
- 京都大学大学院教育学研究科紀要 60, 357-369, 2014-03-31
- … In the psychotic case, he uses a mirror to have fragmented parts of himself be reflected in it, because of evacuation of β-elements by muscular movement. … In the personality disorder case, he uses a mirror to confirm his beauty and maintain his narcissistic omnipotence, because he resists any changes. …
- NAID 120005462616
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Related Pictures
★リンクテーブル★
| リンク元 | 「筋疾患」 |
| 拡張検索 | 「atrophic muscular disorder」 |
| 関連記事 | 「disorder」「muscular」 |
「筋疾患」
- 神経系 091125IV
筋疾患と神経疾患
| 筋疾患 | 神経疾患 | |
| myopathy | neuropathy | |
| 筋力低下 | 近位筋優位 | 遠位筋優位 |
筋疾患と末梢神経疾患の鑑別
| 神経原性 | 筋原性 | |
| 下位運動ニューロン障害 | ||
| 筋萎縮 | 遠位筋中心 | 近位筋中心 |
| 線維束性攣縮 | あり | なし |
| 筋電図 | 高振幅 | 低振幅 |
| long duration | short duration | |
| giant spike | ||
| (代償的な筋線維の興奮) | ||
| 筋逸脱酵素 | ー | CK↑ |
| 筋生検 | 群性萎縮(小角化線維) | 孤発性萎縮(筋線維の大小不同、中心核の増加) |
| 疾患 | ALS | 筋ジストロフィー |
| SPMA | 多発性筋炎 |
分類
| 遺伝性 | 遺伝性ミオパチー | 筋ジストロフィー |
| ミトコンドリアミオパチー | ||
| 非遺伝性 | 外因性筋障害 | ステロイドミオパチー |
| crush syndrome | ||
| ischemia | ||
| 炎症性ミオパチー | 多発筋炎・皮膚筋炎 | |
| 内分泌性・代謝疾患性 | 甲状腺機能低下症 | |
| 低カリウム性ミオパチー | ||
| アルコール性ミオパチー | ||
| その他 |
検査
- SOR.356
- 血液検査：
- 筋電図：筋原性変化(低電位差、低振幅波、多相性)
- 筋生検：筋線維の大小不同、壊死繊維、再生像、細胞浸潤など
- MRI：T2で高信号の変化が見られるものがある(皮膚筋炎)
「atrophic muscular disorder」
「disorder」
- 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
- n.
- 注意
- vt.
- 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
- vi.
「muscular」
- adj.
- 筋肉の、筋の