ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群 MELAS
WordNet
- treat gingerly or carefully; "You have to stroke the boss"
- a sudden loss of consciousness resulting when the rupture or occlusion of a blood vessel leads to oxygen lack in the brain (同)apoplexy, cerebrovascular_accident, CVA
- (golf) the unit of scoring in golf is the act of hitting the ball with a club; "Nicklaus won by three strokes"
- (sports) the act of swinging or striking at a ball with a club or racket or bat or cue or hand; "it took two strokes to get out of the bunker"; "a good shot requires good balance and tempo"; "he left me an almost impossible shot" (同)shot
- a light touch with the hands (同)stroking
- a single complete movement
- any one of the repeated movements of the limbs and body used for locomotion in swimming or rowing
- a light touch
- a mark made on a surface by a pen, pencil, or paintbrush; "she applied the paint in careful strokes"
- the oarsman nearest the stern of the shell who sets the pace for the rest of the crew
- row at a particular rate
- strike a ball with a smooth blow
- touch lightly and repeatedly, as with brushing motions; "He stroked his long beard"
- want to have; "Id like a beer now!"
- a kind of person; "Well not see his like again"; "I cant tolerate people of his ilk" (同)ilk
- a similar kind; "dogs, foxes, and the like", "we dont want the likes of you around here" (同)the like, the likes of
- equal in amount or value; "like amounts"; "equivalent amounts"; "the same amount"; "gave one six blows and the other a like number"; "the same number" (同)same
- resembling or similar; having the same or some of the same characteristics; often used in combination; "suits of like design"; "a limited circle of like minds"; "members of the cat family have like dispositions"; "as like as two peas in a pod"; "doglike devotion"; "a dreamlike quality" (同)similar
- be fond of; "I like my nephews"
- feel about or towards; consider, evaluate, or regard; "How did you like the Presidents speech last night?"
- find enjoyable or agreeable; "I like jogging"; "She likes to read Russian novels"
- a part of a broadcast serial (同)installment, instalment
- a brief section of a literary or dramatic work that forms part of a connected series
- a happening that is distinctive in a series of related events
- abnormally high acidity (excess hydrogen-ion concentration) of the blood and other body tissues
PrepTutorEJDIC
- (こぶし・武器・金づちなどの)『一打ち』,一撃,打告《+of+名》 / 《単数形で》(運の)巡り合わせ《+of+名》 / 《単数形で》(…の)ひと仕事,ひと働き;みごとな成果《+of+名》 / (鐘・時計などの)『打つ音』《+of+名》 / (時計などが打って示す)時刻 / (繰り返される動作・運動の)『一動作』,一行程 / (ペン・鉛筆・筆などの)ひと筆,ひとなで;筆の運び,筆致 / 卒中 / (ゴルフ・テニスなどの)一打ち,ストローク / (心臓などの)一打ち,鼓動,脈搏 / (ボートの)整調[手] / 〈ボート〉‘の'整調をこぐ / 《副詞[句]を伴って》〈ボール〉‘を'打つ
- 〈髪・動物など〉‘を'なでる,さする / 〈人〉‘を'なだめる《+名+down, down+名》 / 一なで,一さすり
- …‘を'『好む』,‘が'好きである / 《しばしば否定文で,またwould,《英》shouldと共に用いて》…‘を'望む,…したい / 『好む』;望む / 《複数形で》好み,好きな事
- (外観・性質などが)…『に似た』,のような / (やり方,程度などが)…『と同じように』 / …『らしい』,にふさわいし / 《おもに話》たとえば…のような / 《名詞の前にのみ用いて》(性質・外観などが)同じの,(数量が)等しい / 《補語にのみ用いて》似ている,そっくりで / たぶん,おそらく(probably) / (…に)似た人(物),(…と)同等の人(物),匹敵する人(物)《+『of』+『名』》 / …のように / あたかも…のように
- 《語・句・節を対等に結んで》…『と』…,…や…,および / 《数詞を結合して》…『足す』…,…に加えて / …『しかも』…,…して,同時に… / 《時間的に》『そして』,それから,すると(and then) / 《当然の帰結として》…『ので』,…だから(and so) / 《おもに話》《命令文などの後で》『そうすれば』,そうしたら / 《追加・強調して》それに,しかも / 《対照的な内容を導いて》ところが,しかし(but) / 《譲歩的に》それなのに,それでいながら / 《A and Bで一体の関係を表して》《単数扱い》 / 《同一語を反復して多数・継続などを表して》 / 《同一の複数名詞を結合して変化・種類などを表して》 / 《話》《「形容詞+and+形容詞」の形で前の形容詞が後に副詞的に働く》 / 《話》《「動詞come, goなど+and+動詞」の形でandとその後の動詞が不定詞の働きをして》 / 《「動詞+and+動詞」の形で後の動詞が現在分詞の意を表して》 / 《話》《文頭において前の質問・意見などに同意を示して》そうとも,そして(Yes!and) / 《話》《文頭に置いて驚き・疑念・非難などを表して》ほんとうに;…なのに
- 挿話的なでき事(人生の特殊な経験など) / (小説・劇などの中の本筋と直接関係のない)挿話的な事件
- 酸性症,酸中毒(血液中のアルカリ濃度が異常に低い状態)
UpToDate Contents
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English Journal
- Localization of exogenous DNA to mitochondria in skeletal muscle following hydrodynamic limb vein injection.
- Yasuzaki Y, Yamada Y, Kanefuji T, Harashima H.Author information Laboratory for Molecular Design of Pharmaceutics, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo, Japan.AbstractMitochondrial genetic disorders are a major cause of mitochondrial diseases. It is therefore likely that mitochondrial gene therapy will be useful for the treatment of such diseases. Here, we report on the possibility of mitochondrial gene delivery in skeletal muscle using hydrodynamic limb vein (HLV) injection. The HLV injection procedure, a useful method for transgene expression in skeletal muscle, involves the rapid injection of a large volume of naked plasmid DNA (pDNA) into the distal vein of a limb. We hypothesized that the technique could be used to deliver pDNA not only to nuclei but also to mitochondria, since cytosolic pDNA that is internalized by the method may be able to overcome mitochondrial membrane. We determined if pDNA could be delivered to myofibrillar mitochondria by HLV injection by PCR analysis. Mitochondrial toxicity assays showed that the HLV injection had no influence on mitochondrial function. These findings indicate that HLV injection promises to be a useful technique for in vivo mitochondrial gene delivery.
- Journal of controlled release : official journal of the Controlled Release Society.J Control Release.2013 Dec 28;172(3):805-11. doi: 10.1016/j.jconrel.2013.09.029. Epub 2013 Oct 4.
- Mitochondrial genetic disorders are a major cause of mitochondrial diseases. It is therefore likely that mitochondrial gene therapy will be useful for the treatment of such diseases. Here, we report on the possibility of mitochondrial gene delivery in skeletal muscle using hydrodynamic limb vein (HL
- PMID 24100263
- MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
- Liu K, Zhao H, Ji K, Yan C.Author information Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China.AbstractWe report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like episodes, migraine-like headaches with nausea and vomiting, and elevated resting lactate blood level. It is known that the myoclonus epilepsy with ragged-red fibers (MERRF) is characterized by cerebellar ataxia and myoclonus epilepsy, while that the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by recurrent stroke-like episodes, migraine-like headaches, and elevated resting lactate blood level. So the patient's clinical manifestations suggest the presence of a MERRF/MELAS overlap syndrome. Muscle biopsy of the patient showed the presence of numerous scattered ragged-red fibers, some cytochrome c oxidase-deficient fibers, and several strongly succinate dehygrogenase-reactive vessels, suggestive of a mitochondrial disorder. Direct sequencing of the complete mitochondrial genome of the proband revealed no mutations other than the T-to-C transition at nucleotide position 3291. Restriction fragment length polymorphism analysis of the proband and her family revealed maternal inheritance of the mutation in a heteroplasmic manner. The analysis of aerobic respiration and glycolysis demonstrated that the fibroblasts from the patient had mitochondrial dysfunction. Our results suggest that the m.3291T>C is pathogenic. This study is the first to describe the m.3291T>C mutation in association with the MERRF/MELAS overlap syndrome.
- Metabolic brain disease.Metab Brain Dis.2013 Dec 12. [Epub ahead of print]
- We report the case of a 19-year-old Chinese female harboring the m.3291T>C mutation in the MT-TL1 gene encoding the mitochondrial transfer RNA for leucine. She presented with a complex phenotype characterized by progressive cerebellar ataxia, frequent myoclonus seizures, recurrent stroke-like epi
- PMID 24338029
- Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature.
- Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL, Provot F, Gheerbrant JD, Hummel A, Hazzan M, Dracon M, Dieux-Coeslier A, Copin MC, Noël C, Buob D.AbstractRenal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in this case series. Three of the 5 patients had a history of maternally-inherited diabetes and/or deafness. Focal and segmental glomerulosclerosis and arteriolar hyaline thickening were the most striking findings on renal biopsy. In addition to clinical presentation with the typical symptoms of MELAS syndrome, genetic testing in these patients identified the A3243G point mutation in the tRNALeu gene of the mitochondrial DNA (mtDNA). The diagnosis of MELAS syndrome was thus considered to be unequivocal. The incidence of kidney disease in MELAS syndrome may be underestimated although a study is required to investigate this hypothesis. As the A3243G mtDNA mutation leads to a progressive adult-onset form of focal segmental glomerulosclerosis (FSGS), screening for the MELAS A3243G mtDNA mutation should therefore be performed especially in patients with maternally-inherited diabetes or hearing loss presenting with FSGS.
- Clinical nephrology.Clin Nephrol.2013 Dec;80(6):456-63. doi: 10.5414/CN107063.
- Renal dysfunction is increasingly recognized as a potential clinical feature of mitochondrial cytopathies such as mitochondrial encephalomyopathy, lacticacidosis and stroke-like episodes (MELAS) syndrome. Five cases of MELAS syndrome with renal involvement from 4 unrelated families are presented in
- PMID 22909780
Japanese Journal
- 症例報告 神経症状に長期先行して腎障害を呈したG13513A変異を有するmitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)の1例
- Taurine Ameliorates Impaired the Mitochondrial Function and Prevents Stroke-like Episodes in Patients with MELAS
- Rikimaru Mitsue,Ohsawa Yutaka,Wolf Alexander M.,Nishimaki Kiyomi,Ichimiya Harumi,Kamimura Naomi,Nishimatsu Shin-ichiro,Ohta Shigeo,Sunada Yoshihide
- Internal Medicine 51(24), 3351-3357, 2012
- … Objective Post-transcriptional taurine modification at the first anticodon ("wobble") nucleotide is deficient in A3243G-mutant mitochondrial (mt) tRNALeu(UUR) of patients with myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). …
- NAID 130003308162
- Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
- Zhao Danhua,Hong Daojun,Zhang Wei [他],YAO Sheng,QI Xiaokun,LV He,ZHENG Riliang,FENG Liqun,HUANG Yining,YUAN Yun,WANG Zhaoxia
- Journal of human genetics 56(11), 759-764, 2011-11-01
- NAID 10030661506
Related Links
- MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) ・疾患の概要 MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) は、ミトコンドリア病 ...
- ... and it can exacerbate an underlying mitochondrial cytopathy. We report a case of Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unmasked by use of Sodium Valproate in a 12-year-old boy ...
★リンクテーブル★
[★]
- 関
- alike、as well as、care for、correspond、correspondingly、equally、favor、identically、likewise、prefer、resemble、same、similar、similarly、such
[★]
- (再発性疾患の)症状の発現。
- 挿間期(病気の症状が現れる時期)。
- (慢性疾患の経過中に起こる一過性の増悪現象)エピソード
- 関
- affect、event、onset、symptom onset
[★]
- 関
- mitochondria、mitochondrially、mitochondrion
[★]
脳卒中
[★]
- 関
- lactate、lactic acid