プラダー・ウィリー症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- English physician who was a pioneer in the study of the brain (1621-1675) (同)Thomas Willis
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Lifestyle interventions targeting changes in body weight and composition among youth with an intellectual disability: A systematic review.
- Maïano C1, Normand CL2, Aimé A3, Bégarie J4.
- Research in developmental disabilities.Res Dev Disabil.2014 Aug;35(8):1914-1926. doi: 10.1016/j.ridd.2014.04.014. Epub 2014 May 13.
- Over the past three decades, the potential effects of lifestyle interventions targeting changes in body weight and composition (weight, body mass index, fat mass, waist circumference) among adults with an intellectual disability (ID) have been examined in various systematic reviews. Nevertheless, si
- PMID 24830882
- The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics.
- Vilchis Z1, Najera N, Pérez-Duran J, Najera Z, Gonzalez L, Del Refugio Rivera M, Queipo G.
- American journal of medical genetics. Part A.Am J Med Genet A.2014 Jul;164(7):1702-5. doi: 10.1002/ajmg.a.36543. Epub 2014 Apr 8.
- Neonatal hypotonia is a relatively common cause of consultation in daily pediatric practice. It is part of the clinical presentation of a large group of heterogeneous diseases, many of which have an important and classifiable genetic background. Identification of the specific disorder can help optim
- PMID 24715477
- Abnormal Response to the Anorexic Effect of GHS-R Inhibitors and Exenatide in Male Snord116 Deletion Mouse Model for Prader-Willi Syndrome.
- Lin D1, Wang Q, Ran H, Liu K, Wang Y, Wang J, Liu Y, Chen R, Sun Y, Liu R, Ding F.
- Endocrinology.Endocrinology.2014 Jul;155(7):2355-62. doi: 10.1210/en.2013-2083. Epub 2014 Apr 15.
- Prader-Willi syndrome (PWS) is a genetic disease characterized by persistent hunger and hyperphagia. The lack of the Snord116 small nucleolar RNA cluster has been identified as the major contributor to PWS symptoms. The Snord116 deletion (Snord116del) mouse model manifested a subset of PWS symptoms
- PMID 24735326
Japanese Journal
- Body fat determined by skinfold measurements is elevated despite underweight in infants with Prader-Labhart-Willi syndrome
- Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
- Prader-Labhart-Willi症候群を有する7例の性腺機能〔英文〕
- 奥山 明彦 [他],Koide Takuo,Sonoda Takao,Matsumoto Keishi,Nishimoto Naomitsu,Mizutani Shutaro,Namiki Mikio,Itatani Hiroaki,Mitsubayashi Shigeru,Yoshida Takao
- 泌尿器科紀要 27(4), p347-354, 1981-04
- … 両側停留睾丸を合併した7 1/6~15 1/12のPrader-Labhart-Willi症候群(PLWS)7例に対してLH-RH, HCG両負荷試験および睾丸生検術を施行した。 …
- NAID 120002259869
Related Links
- Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed ...
- プラダー・ウィリー症候群(PWS)は1956年に,Prader,Labhart,Williによって初めて医学文献に報告された病気です.肥満,低い身長,生後間もなくの筋肉の力の低下などのいくつかの共通の症状がみられるため,症候群という呼び方が ...
★リンクテーブル★
[★]
- 英
- Prader-Willi syndrome, PWS
- 同
- Prader-Willi症候群、プラダー-ウィリー症候群、プラダー・ウィリ症候群 プラダーウィリー症候群、プラダー・ウィリィ症候群、プラダー-ラープハルト-ウィリー症候群 Prader-Labhart-Willi syndrome PLWS
- 潜伏精巣・低身長症・肥満・軽度精神発達遅滞症候群 cryptorchidism-dwarfism-obesity-subnormal mentality syndrome、筋緊張低下・知能低下・性腺発育不全・肥満症候群 hypotonia-hypomentia-hypogonadism-obesity syndrome HHHO症候群 HHHO syndrome H3O syndrome
- 関
- アンジェルマン症候群
[show details]
概念
- 15番染色体長腕の動原体近傍の染色体の腕内欠失による先天性疾患。
- 父親に由来する異常染色体を引き継いだ場合に発症する(ゲノムインプリンティング)。 ← そうでない場合もある(see 病因)
病因
- 1. 70%:15番染色体長腕q11-13の父親由来染色体部分欠失
- 2. 20%:母性片親性ダイソミー
症状
ASとPWSの比較 (PED.215改変)
PWSに特徴的
|
共通症状
|
ASに特徴的
|
高度肥満
|
|
11q11-a12の欠失
|
|
操り人形様の失調性歩行
|
異常な食欲
|
|
精神発達遅滞
|
より高度
|
容易に誘発される発作的な笑い
|
乳幼児期の筋緊張低下
|
|
痛覚鈍麻
|
|
手足の振戦
|
小さな手足と先細りの指
|
より高度
|
色素脱出
|
|
小頭症
|
性腺機能低下
|
|
痙攣
|
高頻度
|
大きな突出した下顎
|
|
より高度
|
肥満
|
|
流涎を伴う舌挺出
|
参考
- http://1.bp.blogspot.com/_DFO2zwT-yjw/SUKwosUSNfI/AAAAAAAAAjc/GHueEzmkFg4/s1600-h/PRADER+WILLI.jpg
- http://schoolworkhelper.net/2011/06/prader-willi-syndrome-causes-symptoms-treatment/
- http://schoolworkhelper.net/wp-content/uploads/2011/06/Prader-Willi-Syndrome-2.gif
[★]