Retrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojence
Retrospective diagnosis of unknown cause of sudden infant death
dissertation thesis (DEFENDED)
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http://hdl.handle.net/20.500.11956/19248Identifiers
Study Information System: 13463
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- Kvalifikační práce [3162]
Author
Advisor
Consultant
Votava, Felix
Referee
Janda, Jan
Plavka, Richard
Vízek, Martin
Faculty / Institute
Third Faculty of Medicine
Discipline
-
Department
Department of Children and Adolescents 3FM CU and UHKV
Date of defense
20. 11. 2008
Publisher
Univerzita Karlova, 3. lékařská fakultaLanguage
Czech
Grade
Pass
Background: Sudden infant death syndrome (SIDS) is defined as sudden unexpected death of an infant that remains unexplained after thorough post-mortem examination, investigation of the scene of death and case history. The autopsy findings and the physiological characteristics of these infants suggest a possible role of insufficient cardiorespiratory control and arousal mechanisms. The etiology is probably multifactorial based on a genetic predisposition combined with environmental factors. Several candidate genes have been studied, e.g. those involved in serotonin transport, autonomic nervous system embryology, inflammation, energy production, nicotine and glucose metabolism. A small number of cases may be caused by monogenic diseases that can lead to sudden death and leave no characteristic autopsy findings and thus imitate SIDS. Fatty acid beta-oxidation disorders (FAOD) have been associated with SIDS since 1976 and it is nowadays estimated that they may be responsible for about 1% of SIDS cases. Congenital long QT syndrome, a cardiac channelopathy, that may cause a fatal arrhythmia was a logical candidate for SIDS and indeed it was found out that about 9,5% of SIDS cases carry a mutation or a function changing variant in one of seven cardiac ion channel genes. We assumed that the severe salt...