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Retrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojence
Strnadová, Kristina ; Lebl, Jan (vedoucí práce) ; Janda, Jan (oponent) ; Plavka, Richard (oponent) ; Vízek, Martin (oponent)
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...
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Retrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojence
Strnadová, Kristina ; Lebl, Jan (vedoucí práce) ; Janda, Jan (oponent) ; Plavka, Richard (oponent) ; Vízek, Martin (oponent)
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...
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