潜伏精巣・低身長症・肥満・軽度精神発達遅滞症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- below normal or average; "after the floods the harvests were subnormal"; "subnormal intelligence"
- a person of less than normal intelligence
- a habitual or characteristic mental attitude that determines how you will interpret and respond to situations (同)outlook, mindset, mind-set
- a genetic abnormality resulting in short stature (同)nanism
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
- 普通(平均)以下の;(知能)が水準以下の,劣っている
- 〈U〉精神力,知力 / 〈C〉思考,考え方;性格
- 肥満
UpToDate Contents
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English Journal
- A pediatric case of Bickerstaff's brainstem encephalitis.
- Park JY1, Ko KO1, Lim JW1, Cheon EJ1, Yoon JM1, Kim HJ1.
- Korean journal of pediatrics.Korean J Pediatr.2014 Dec;57(12):542-5. doi: 10.3345/kjp.2014.57.12.542. Epub 2014 Dec 31.
- Bickerstaff's brainstem encephalitis is characterized by ophthalmoplegia, ataxia, and disturbance of consciousness. It is similar to Miller Fisher syndrome, a variant of Guillain-Barre syndrome, in that they share features such as ophthalmoplegia and ataxia. The difference is that patients with Bick
- PMID 25653689
- Case of inappropriate ADH syndrome: hyponatremia due to polyethylene glycol bowel preparation.
- Ko SH1, Lim CH1, Kim JY1, Kang SH1, Baeg MK1, Oh HJ1.
- World journal of gastroenterology : WJG.World J Gastroenterol.2014 Sep 14;20(34):12350-4. doi: 10.3748/wjg.v20.i34.12350.
- Colonoscopic screening has been reported to reduce deaths from colorectal cancer. Adequate bowel preparation is essential for this and safety is an important issue in choosing the methods. Polyethylene glycol (PEG) is regarded as a safe method for cleansing, especially compared with oral sodium phos
- PMID 25232272
- Abdominal compartment syndrome in severe acute pancreatitis treated with percutaneous catheter drainage.
- Park S1, Lee S1, Lee HD1, Kim M1, Kim K1, Jeong Y1, Park SM1.
- Clinical endoscopy.Clin Endosc.2014 Sep;47(5):469-72. doi: 10.5946/ce.2014.47.5.469. Epub 2014 Sep 30.
- Acute pancreatitis is one of the main causes of intra-abdominal hypertension (IAH). IAH contributes to multiple physiologic alterations and leads to the development of abdominal compartment syndrome (ACS) that induces multiorgan failure. We report a case of ACS in a patient with severe acute pancrea
- PMID 25325011
★リンクテーブル★
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- 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
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共通症状
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ASに特徴的
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高度肥満
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11q11-a12の欠失
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操り人形様の失調性歩行
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異常な食欲
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精神発達遅滞
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より高度
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容易に誘発される発作的な笑い
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乳幼児期の筋緊張低下
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痛覚鈍麻
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手足の振戦
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小さな手足と先細りの指
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より高度
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色素脱出
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小頭症
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性腺機能低下
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痙攣
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高頻度
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大きな突出した下顎
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より高度
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肥満
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流涎を伴う舌挺出
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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
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- 関
- mental、psychological
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- 関
- subnormality
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