Le syndrome de Smith-Magenis (notice n° 435061)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02603cam a2200253 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250121001119.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | De Leersnyder, Hélène |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Le syndrome de Smith-Magenis |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2008.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 50 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | RésuméLe syndrome de Smith Magenis (SMS) est une maladie génétique orpheline due à une microdélétion sur le chromosome 17. Il se traduit par un retard mental, une dysmorphie, des troubles du comportement et des troubles du sommeil très sévères. Ces anomalies comportementales ont été rattachées à une anomalie de la sécrétion circadienne de mélatonine, avec une sécrétion diurne et non pas nocturne de cette hormone. Le syndrome de Smith Magenis apporte la démonstration de l’impact d’une anomalie biologique sur des troubles du sommeil dans une maladie génétique. Cette anomalie du rythme circadien est unique dans l’espèce humaine et ce syndrome est donc un modèle des liens étroits qui peuvent exister entre la génétique, la biologie et les troubles du comportement. La compréhension de ce désordre biologique a permis une approche thérapeutique originale, par des médicaments d’utilisation simple, ce qui a transformé le sommeil des patients et amélioré leur comportement diurne. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Smith Magenis syndrome (SMS) is a genetic disease ascribed to an interstitial deletion of chromosome 17p11.2. The diagnosis is based on clinical features associating mental retardation with distinctive behavioral characteristics, typical craniofacial appearance and congenital anomalies. Severe sleep disturbances and maladaptative daytime behavior were linked to abnormal circadian rhythm of melatonin with a diurnal secretion of this hormone. SMS is the demonstration of biological basis for sleep disorder in a genetic disease. Elucidating pathophysiological mechanisms of behavioral phenotypes in genetic disease is particularly relevant to therapeutic approach with conventional drugs. An original therapeutic approach including blockade of endogenous melatonin signaling pathways combined with on-time exogenous melatonin administration is proposed to SMS patients. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | retard mental |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | trouble du sommeil |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | mélatonine |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | mental retardation syndrome |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | melatonin |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | sleep disturbance |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Verloes, Alain |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Devenir | 20 | 3 | 2008-08-19 | p. 197-209 | 1015-8154 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-devenir-2008-3-page-197?lang=fr&redirect-ssocas=7080">https://shs.cairn.info/revue-devenir-2008-3-page-197?lang=fr&redirect-ssocas=7080</a> |
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