Lowry syndrome

ローリー症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. English painter (1887-1976) (同)L. S. Lowry, Laurence Stephen Lowry
4. English novelist (1909-1957) (同)Malcolm Lowry, Clarence Malcolm Lowry
5. British political cartoonist (born in New Zealand) who created the character Colonel Blimp (1891-1963) (同)David Low, Sir David Low, Sir David Alexander Cecil Low

PrepTutorEJDIC

1. (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

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• 1. 漏斗胸 pectus carinatum
• 2. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
• 3. スキューバダイビングの合併症 complications of scuba diving
• 4. 代謝性アシドーシスを有する小児に対するアプローチ approach to the child with metabolic acidosis
• 5. 強イオンおよび酸塩基障害の解析（スチュワート法） strong ions and the analysis of acid base disturbances stewart approach

English Journal

• Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome.

• Deguchi S1, Komasawa N2, Morimoto K1, Minami T1.
• Journal of clinical anesthesia.J Clin Anesth.2016 Mar;29:1-2. doi: 10.1016/j.jclinane.2015.10.009. Epub 2016 Jan 24.
• PMID 26897436

• Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.

• Koehne T1, Jeschke A2, Petermann F2, Seitz S3, Neven M2, Peters S2, Luther J2, Schweizer M4, Schinke T2, Kahl-Nieke B5, Amling M2, David JP6.
• Journal of dental research.J Dent Res.2016 Feb 29. pii: 0022034516634329. [Epub ahead of print]
• The ribosomal S6 kinase RSK2 is essential for osteoblast function, and inactivating mutations of RSK2 cause osteopenia in humans with Coffin-Lowry syndrome (CLS). Alveolar bone loss and premature tooth exfoliation are also consistently reported symptoms in CLS patients; however, the pathophysiologic
• PMID 26927527

• Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome.

• Imataka G1, Nakajima I, Goto K, Konno W, Hirabayashi H, Arisaka O.
• European review for medical and pharmacological sciences.Eur Rev Med Pharmacol Sci.2016 Feb;20(3):498-501.
• Some cases of Coffin-Lowry syndrome recognized episodic drops and it tended to be intractable for medical treatment. We reported here a patient with the Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome (OSAS). The patient had epileptic seizures and drop attacks only during nigh
• PMID 26914125

Japanese Journal

• 頸髄損傷を合併したコッフィン・ラウリー症候群患児の1症例

• 麻酔 63(2), 203-205, 2014-02
• NAID 40019966294

• An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities

• Journal of human genetics 58(11), 755-757, 2013-11
• NAID 40019875188

• 重度閉塞型睡眠時無呼吸症候群を合併した Coffin-Lowry 症候群患者の日帰り全身麻酔経験

• 日本歯科麻酔学会雑誌 36(5), 571-572, 2008-10-15
• NAID 10024381657

Related Links

• Coffin-Lowry syndrome - Genetics Home Reference

Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in ...

• 疾患詳細

The Coffin-Lowry syndrome: A simple inherited trait comprise mental retardation, facio-digital anomalies and skeletal involvement. BDOAS 11(6): 133-152, 1975 (8) Temtamy SA et al. The Coffin-Lowry syndrome: an inherited facio ...

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★リンクテーブル★

拡張検索	「Coffin-Lowry syndrome」
関連記事	「syndrome」

「Coffin-Lowry syndrome」

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コフィン・ローリー症候群、Coffin-Lowry症候群

「syndrome」

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• n.

• 症候群