前庭水管拡大症
WordNet
- with the wind abaft the beam; "a ship sailing large"
- a garment size for a large person
- above average in size or number or quantity or magnitude or extent; "a large city"; "set out for the big city"; "a large sum"; "a big (or large) barn"; "a large family"; "big businesses"; "a big expenditure"; "a large number of newspapers"; "a big group of scientists"; "large areas of the world" (同)big
- at a distance, wide of something (as of a mark)
- fairly large or important in effect; influential; "played a large role in the negotiations"
- having broad power and range and scope; "taking the large view"; "a large effect"; "a large sympathy"
- a conduit that resembles a bridge but carries water over a valley
- relating to the sense of equilibrium
PrepTutorEJDIC
- (同じ種類のものと比較して,形・体積・数量などが)『大きい』,多い,広い / (考えなどが)広範囲な,幅の広い,寛大な / 大きく / 自慢して,誇大に
- 送水路,水路橋
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/17 19:21:15」(JST)
[Wiki en表示]
| Enlarged vestibular aqueduct |
| Classification and external resources |
| OMIM |
600791 |
Interior of right osseous labyrinth
Large vestibular aqueduct, also known as enlarged vestibular aqueduct syndrome, is a syndromic form of hearing loss, caused by enlargement of the vestibular aqueduct in the inner ear. It is one of the most common inner ear deformities which results in hearing loss during childhood.[1]
Contents
- 1 Symptoms
- 2 Pathology
- 3 References
- 4 External links
Symptoms
Although large vestibular aqueduct syndrome is a congenital condition, hearing loss may not be present from birth. Age of diagnosis ranges from infancy to adulthood, and symptoms include fluctuating and sometimes progressive sensorineural hearing loss and disequilibrium.[2]
Pathology
The vestibular aqueduct acts as a canal between the inner ear and the cranial cavity. Running through it is a tube called the endolymphatic duct, which normally carries a fluid called endolymph from the inner ear to the endolymphatic sac in the cranial cavity. When the endolymphatic duct and sac are larger than normal, as is the case in large vestibular aqueduct syndrome, endolymph is allowed to travel back from the endolympathic sac into the inner ear. This often results from abnormal or delayed development of the inner ear during childhood. Enlarged vestibular aqueduct syndrome is often comorbid with other inner ear development problems, such as cochlear deformities. Studies show that genetic defects such as Pendred syndrome are related to large vestibular aqueduct syndrome, and have connected the disorder specifically to a defect on chromosome 7q31.[1]
Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss than the general population. Hearing loss is very likely.
The cochlea and vestibule, viewed from above. (Aqueductus vestibuli labeled at bottom right
References
- ^ a b S. Usami, Satoko Abe, Mike D. Weston, Hideichi Shinkawa, Guy Van Camp and William J. Kimberling (1999), "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations", Human Genetics 103: 188–192, doi:10.1007/s004390050933, PMID 10190331
- ^ Madden, Colm; Halsted, Mark; Benton, Corning; Greinwald, John; Choo, Daniel (July 2003), "Enlarged Vestibular Aqueduct Syndrome in the Pediatric Population", Otology & Neurotology 24: 625–632
External links
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Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
| 1.2 |
- Feingold syndrome
- Saethre–Chotzen syndrome
|
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| 1.3 |
|
|
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(2) Zinc finger
DNA-binding domains |
| 2.1 |
- (Intracellular receptor): Thyroid hormone resistance
- Androgen insensitivity syndrome
- Kennedy's disease
- PHA1AD pseudohypoaldosteronism
- Estrogen insensitivity syndrome
- X-linked adrenal hypoplasia congenita
- MODY 1
- Familial partial lipodystrophy 3
- SF1 XY gonadal dysgenesis
|
|
| 2.2 |
- Barakat syndrome
- Tricho–rhino–phalangeal syndrome
|
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| 2.3 |
- Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome
- Denys–Drash syndrome
- Duane-radial ray syndrome
- MODY 7
- MRX 89
- Townes–Brocks syndrome
- Acrocallosal syndrome
- Myotonic dystrophy 2
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| 2.5 |
- Autoimmune polyendocrine syndrome type 1
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|
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| (3) Helix-turn-helix domains |
| 3.1 |
- ARX
- Ohtahara syndrome
- Lissencephaly X2
- MNX1
- HOXD13
- PDX1
- LMX1B
- MSX1
- Tooth and nail syndrome
- OFC5
- PITX2
- POU4F3
- POU3F4
- ZEB1
- Posterior polymorphous corneal dystrophy
- Fuchs' dystrophy 3
- ZEB2
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|
| 3.2 |
- PAX2
- PAX3
- PAX4
- PAX6
- Gillespie syndrome
- Coloboma of optic nerve
- PAX8
- Congenital hypothyroidism 2
- PAX9
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|
| 3.3 |
- FOXC1
- Axenfeld syndrome 3
- Iridogoniodysgenesis, dominant type
- FOXC2
- Lymphedema–distichiasis syndrome
- FOXE1
- Bamforth–Lazarus syndrome
- FOXE3
- Anterior segment mesenchymal dysgenesis
- FOXF1
- FOXI1
- Enlarged vestibular aqueduct
- FOXL2
- Premature ovarian failure 3
- FOXP3
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| 3.5 |
- IRF6
- Van der Woude syndrome
- Popliteal pterygium syndrome
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(4) β-Scaffold factors
with minor groove contacts |
| 4.2 |
- Hyperimmunoglobulin E syndrome
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| 4.3 |
- Holt–Oram syndrome
- Li–Fraumeni syndrome
- Ulnar–mammary syndrome
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|
| 4.7 |
- Campomelic dysplasia
- MODY 3
- MODY 5
- SF1
- SRY XY gonadal dysgenesis
- Premature ovarian failure 7
- SOX10
- Waardenburg syndrome 4c
- Yemenite deaf-blind hypopigmentation syndrome
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| 4.11 |
|
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| (0) Other transcription factors |
|
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| Ungrouped |
- TCF4
- ZFP57
- TP63
- Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8
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| Transcription coregulators |
| Coactivator: |
- CREBBP
- Rubinstein–Taybi syndrome
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| Corepressor: |
- HR (Atrichia with papular lesions)
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|
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See also transcription factors and intracellular receptors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
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|
UpToDate Contents
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English Journal
- High prevalence of inner-ear and/or internal auditory canal malformations in children with unilateral sensorineural hearing loss.
- Masuda S, Usui S, Matsunaga T.SourceDepartment of Otorhinolaryngology, Institute for Clinical Research, National Mie Hospital, Tsu, Mie, Japan. masudas@mie-m.hosp.go.jp
- International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2013 Feb;77(2):228-32. doi: 10.1016/j.ijporl.2012.11.001. Epub 2012 Nov 30.
- OBJECTIVE: Radiological and genetic examination has recently advanced for diagnosis of congenital hearing loss. The aim of this study was to elucidate the prevalence of inner-ear and/or internal auditory canal malformations in children with unilateral sensorineural hearing loss (USNHL) for better ma
- PMID 23200870
- Augmented ocular vestibular evoked myogenic potentials to air-conducted sound in large vestibular aqueduct syndrome.
- Taylor RL, Bradshaw AP, Magnussen JS, Gibson WP, Halmagyi GM, Welgampola MS.SourceInstitute of Clinical Neurosciences, Royal Prince Alfred Hospital, Central Clinical School, University of Sydney, NSW, Australia.
- Ear and hearing.Ear Hear.2012 Nov-Dec;33(6):768-71. doi: 10.1097/AUD.0b013e31825ce613.
- OBJECTIVE: To demonstrate the value of recording air-conducted ocular Vestibular Evoked Myogenic Potentials (oVEMP) in a patient with bilaterally enlarged vestibular aqueducts.DESIGN: Cervical VEMP and oVEMP were recorded from a patient presenting with bilateral hearing loss and imbalance, attributa
- PMID 22836238
- The relationship between vestibular aqueduct diameter and sensorineural hearing loss is linear: a review and meta-analysis of large case series.
- Spencer CR.SourceDepartment of Head and Neck Surgery, St George's Hospital, London, UK. drchekaspencer@doctors.org.uk
- The Journal of laryngology and otology.J Laryngol Otol.2012 Nov;126(11):1086-90. doi: 10.1017/S0022215112002010. Epub 2012 Sep 11.
- INTRODUCTION: Inner ear homeostasis is dependent on the vestibular aqueduct and its content, the endolymphatic duct. Narrow and enlarged vestibular aqueducts have both been associated with hearing loss in Ménière's and large vestibular aqueduct syndromes. This review investigated the correlation b
- PMID 22963842
Japanese Journal
- Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese : a large cohort study
Related Links
- Images of the right temporal bone of someone with EVA Left: MRI scan showing enlargement of the endolymphatic sac and duct (indicated by the arrow). Right: CT scan showing enlargement of the vestibular aqueduct (indicated by ...
- What is an enlarged vestibular aqueduct? The vestibular aqueduct is a tiny, bony canal that extends from the inner ear’s endolymphatic space toward the brain. It is shielded by one of the densest bones in the body, the temporal ...
★リンクテーブル★
[★]
- 英
- enlarged vestibular aqueduct enlarged vestibular aqueduct syndrome, large vestibular aqueduct LVA, large vestibular aqueduct syndrome
- 関
- ペンドレッド症候群
[show details]
疫学
病因
- 先天的・後天的に発症(E1)
- 先天性が一般的。内耳の発生異常である。前庭水管の発生異常。妊娠15週。(E1)
- SLC26A4(PDS)遺伝子の変異が原因(SOTO.170) → 前庭水管拡大を伴った非症候性難聴とPendred症候群は一連の症候群である可能性が高い(SOTO.170)
症状
- 幼少期から感音性難聴。ときにめまいを伴う。難聴は進行性、変動することがある。発症の契機はは頭部外傷。(SOTO.170)
診断・検査
- 側頭骨のCT(E1)。CTかMRI(SOTO.170)
- 画像所見(E1)：通常の水管径1mm以下なのに本症では1.5-2mm異常に拡大。(SOTO.170)
治療
[★]
- 関
- great、massive、sizable
[★]
- 関
- vestibule、vestibulo
[★]
水管、水道