WordNet
- fruiting spike of a cereal plant especially corn (同)spike, capitulum
- attention to what is said; "he tried to get her ear"
- good hearing; "he had a keen ear"; "a good ear for pitch"
- the sense organ for hearing and equilibrium
- something abnormal or anomalous (同)miscreation
- having ears (or appendages resembling ears) or having ears of a specified kind; often used in combination
- the base of the natural system of logarithms; approximately equal to 2.718282...
PrepTutorEJDIC
- 〈C〉『耳』 / 《単数形で》『聴覚』,聴力,音感 / 《単数形で》じっと聞くこと,傾聴 / 〈C〉耳の形をした物
- (麦・とうもろこしなどの)穂
- (特に生物体の)奇形;{C}奇形部分
- (水さしなど)取っ手のある;(毛皮など)耳のついた
UpToDate Contents
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- 1. 耳の先天異常 congenital anomalies of the ear
- 2. 小児における難聴の病因 etiology of hearing impairment in children
English Journal
- Chronic constipation recognized as a sign of a SOX10 mutation in a patient with Waardenburg syndrome.
- Arimoto Y1, Namba K2, Nakano A1, Matsunaga T3.Author information 1Division of Otolaryngology, Chiba Children's Hospital, Japan.2Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Japan.3Laboratory of Auditory Disorders, National Institute of Sensory Organs, National Tokyo Medical Center, Japan. Electronic address: matsunagatatsuo@kankakuki.go.jp.AbstractWaardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the presence of Hirschsprung disease. We identified a de novo nonsense mutation in SOX10 (p.G39X) in a female pediatric patient with Waardenburg syndrome with heterochromia iridis, profound bilateral sensorineural hearing loss, inner ear malformations, and overall hypopigmentation of the hair without dystopia canthorum. This patient has experienced chronic constipation since she was a neonate, but anorectal manometry showed a normal anorectal reflex. Chronic constipation in this patient was likely to be a consequence of a mild intestinal disorder owing to the SOX10 mutation, and this patient was considered to have a clinical phenotype intermediate between type II and type IV of the syndrome. Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome.
- Gene.Gene.2014 May 1;540(2):258-62. doi: 10.1016/j.gene.2014.02.041. Epub 2014 Feb 28.
- Waardenburg syndrome is characterized by hearing loss, pigmentation abnormalities, dysmorphologic features, and neurological phenotypes. Waardenburg syndrome consists of four distinct subtypes, and SOX10 mutations have been identified in type II and type IV. Type IV differs from type II owing to the
- PMID 24582978
- Recurrent pneumococcal meningitis in a child with congenital common cavity malformation of the inner ear.
- Ramesh V1, Sankar J, Krishnamurthy B.
- Clinical pediatrics.Clin Pediatr (Phila).2014 Apr;53(4):397-8. doi: 10.1177/0009922813479019. Epub 2013 Mar 4.
- PMID 23460646
- Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis.
- Greenwood J1, Flodman P1, Osann K2, Boyadjiev SA3, Kimonis V1.Author information 1Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA.2Department of Medicine, Division of Hematology/Oncology, University of California, Irvine, Irvine, California, USA.3Department of Pediatrics, Section of Genetics, University of California, Davis, Davis, California, USA.AbstractPurpose:Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recurrence rates.Methods:We analyzed family histories of 660 mutation-negative nonsyndromic craniosynostosis patients and symptoms in 189 of these patients.Results:The incidence rate of craniosynostosis was highest for first-degree relatives of probands with metopic craniosynostosis (6.4%), followed by those with complex craniosynostosis (4.9%), sagittal craniosynostosis (3.8%), lambdoid craniosynostosis (3.9%), and coronal craniosynostosis (0.7%). Across all suture types, siblings had a greater craniosynostosis incidence rate than parents (7.5 vs. 2.3%). In phenotype comparisons, patients with complex craniosynostosis had the highest frequency of reported symptoms and those with sagittal craniosynostosis had the lowest. Ear infections, palate abnormalities, and hearing problems were more common in complex craniosynostosis patients. Visual problems were more common in coronal craniosynostosis, and metopic craniosynostosis patients noted increased frequency of chronic cough.Conclusion:Our data suggest that the genetic component of nonsyndromic craniosynostosis appears to be suture specific. The incidence rate of craniosynostosis among first-degree relatives varies by suture and family member. Additionally, the phenotype of each suture synostosis shows both unique and shared features.Genet Med 2014:16(4):302-310.
- Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2014 Apr;16(4):302-10. doi: 10.1038/gim.2013.134. Epub 2013 Sep 26.
- Purpose:Craniosynostosis is a common cranial malformation occurring in 1 per 2,000-2,500 births. Isolated defects (nonsyndromic) occur in ~75% of cases and are thought to have multifactorial etiology. It is believed that each suture synostosis is a distinct disease, with varying phenotypes and recur
- PMID 24071792
Japanese Journal
- 成人後に発症した髄膜炎により発見された内耳奇形の2症例
- The Usefulness of Reconstructed 3D Images in Surgical Planning for Cochlear Implantation in a Malformed Ear with an Abnormal Course of the Facial Nerve
- Hara Minoru,Takahashi Haruo,Kanda Yukihiko
- Clinical and Experimental Otorhinolaryngology 5(1), S48-S52, 2012-04-30
- … Objectives: It is not unusual for a cochlear implantation (CI) candidate to have some type of ear malformation, in particular an abnormal course of the facial nerve (FN). … In this study, we attempted to reconstruct a three-dimensional (3D) image of temporal bone structures with malformation using computed tomography (CI) imaging and examined its usefulness in the surgical planning of CI in a malformed ear. …
- NAID 120004754255
- 金沢 佑治,内藤 泰,篠原 尚吾,藤原 敬三,菊地 正弘,山崎 博司,栗原 理紗,岸本 逸平
- 日本耳鼻咽喉科學會會報 115(3), 158-164, 2012-03-20
- 当科で2004年から2010年に手術を行った中耳奇形例21例26耳について, 術前検査, 奇形の病態分類, 手術所見, 術式, 術後聴力につき検討した. 側頭骨CT検査で病態を予測できた症例は, キヌタ・アブミ関節離断が12耳中9耳 (75%), ツチ骨キヌタ骨の周囲骨壁との固着が12耳中7耳 (58%), アブミ骨底板の固着が0耳であった (複数病態の重複例あり). 複数の奇形を合併した6例8耳 …
- NAID 10030286078
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★リンクテーブル★
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-malformation
L. 138
- 関
- abnormality、deformity、dysgenesis、dysplasia、dysplastic、malformed、teratologic
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