X連鎖感覚神経性伝音難聴
WordNet
- the means of connection between things linked in series (同)nexus
- a unit of length equal to 1/100 of a chain
- an interconnecting circuit between two or more locations for the purpose of transmitting and receiving data (同)data link
- a fastener that serves to join or connect; "the walls are held together with metal links placed in the wet mortar during construction" (同)linkup, tie, tie-in
- (computing) an instruction that connects one part of a program or an element on a list to another program or list
- partial or complete loss of hearing (同)hearing_loss
- having the quality or power of conducting heat or electricity or sound; exhibiting conductivity
PrepTutorEJDIC
- (鎖の)『輪』,環 / 鎖のようにつながったソーセージの一節 / (…と)つなぐ物(人),(…との)きずな,つながり《+『with』(『to』)+『名』》 / 《複数形で》=cuff links / …‘を'『つなぎ合わせる』,連結する;(…と)…‘を'つなぐ《+『名』+『with』(『to』)+『名』》 / (…と)結合する,つながる《+[『up』(『together』)]『with』+『名』》
- たいまつ
- 《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
- (熱・電気などを伝える)伝導性の
- (次にくる語の発音が母音で始まるときに用いる) / (子音[h]で始まり第1音節に強勢のない語の場合はanを用いることがある.ただし,この場合は[h]を発音しない)
UpToDate Contents
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English Journal
- JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.
- Hoeve HL1, Brooks AS2, Smit LS3.
- International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2015 Jul;79(7):1164-70. doi: 10.1016/j.ijporl.2015.05.001. Epub 2015 May 12.
- We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underde
- PMID 25998214
- The genotypic and phenotypic spectrum of PIGA deficiency.
- Tarailo-Graovac M1,2,3, Sinclair G4,5,6, Stockler-Ipsiroglu S7,8,9, Van Allen M10,11, Rozmus J12,13, Shyr C14,15,16, Biancheri R17, Oh T18,19, Sayson B20,21, Lafek M22,23, Ross CJ24,25,26,27, Robinson WP28,29, Wasserman WW30,31,32,33, Rossi A34, van Karnebeek CD35,36,37,38.
- Orphanet journal of rare diseases.Orphanet J Rare Dis.2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.
- BACKGROUND: Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways.
- PMID 25885527
- Otological findings in pediatric patients with hypogammaglobulinemia.
- Tavakol M1, Kouhi A2, Abolhassani H3, Ghajar A4, Afarideh M5, Shahinpour S6, Aghamohammadi A7.
- Iranian journal of allergy, asthma, and immunology.Iran J Allergy Asthma Immunol.2014 Jun;13(3):166-73.
- The main clinical presentation of patients with primary antibody deficiency (PAD) incorporates upper respiratory tract infections comprising otitis media, sinusitis and pneumonia. This study was designed to investigate clinical and paraclinical otological complications in major types of PAD. A cross
- PMID 24659120
Japanese Journal
- ジーンターゲティングによるヒト疾患モデルの作製とその応用
- 野田 哲生,池田 勝久,菊地 俊彦
- Otology Japan 9(1), 53-59, 1999
- … DFN3, an X-linked non-syndromic mixed deafness, is associated with mutations of BRAIN-4 (POU3F4) which encodes a POU transcription factor. … The clinical hallmarks of DFN3 are a conductive hearing loss with perilymphatic gusher during surgery and progressive sensorineural deafness. …
- NAID 130001788136
- 非症候群性遺伝性難聴とアミノ配糖体感受性による難聴
- 東 紘一郎,桃生 勝己,多田 裕之
- Otology Japan 6(2), 96-101, 1996-05-28
- … Nonsyndromic genetic deafness is divided into conductive or mixed deafness and sensorineural deafness. … The sensorineural form of nonsyndromic genetic deafness is divided according to the mode of inheritance: dominant, recessive, X-linked or mitochondrial. …
- NAID 10009318100
Related Links
- Deafness, X-linked 2 Synonyms DFNB 1 Nonsyndromic Hearing Loss and Deafness; DFNX2 Nonsyndromic Hearing Loss and Deafness; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes ...
- Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems involving other ...
★リンクテーブル★
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- 英
- X-linked sensorineural and conductive deafness
- 関
- 感音難聴
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- 関
- associate、association、attach、bearing、bind、catenate、catenation、concatenation、connect、connection、correlate、correlation、implicate、implication、join、juncture、ligate、ligation、linkage、linked、pertinent、reference、relate、relation、relationship、relative、relevance、relevant
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- 関
- catenation、link、linkage
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キサントシン, xanthosine
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