dc.contributor.advisor | Lebl, Jan | |
dc.creator | Strnadová, Kristina | |
dc.date.accessioned | 2021-09-06T15:38:15Z | |
dc.date.available | 2021-09-06T15:38:15Z | |
dc.date.issued | 2008 | |
dc.identifier.uri | http://hdl.handle.net/20.500.11956/19248 | |
dc.description.abstract | 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... | en_US |
dc.language | Čeština | cs_CZ |
dc.language.iso | cs_CZ | |
dc.publisher | Univerzita Karlova, 3. lékařská fakulta | cs_CZ |
dc.title | Retrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojence | cs_CZ |
dc.type | dizertační práce | cs_CZ |
dcterms.created | 2008 | |
dcterms.dateAccepted | 2008-11-20 | |
dc.description.department | Department of Children and Adolescents 3FM CU and UHKV | en_US |
dc.description.department | Klinika dětí a dorostu 3. LF UK a FNKV | cs_CZ |
dc.description.faculty | 3. lékařská fakulta | cs_CZ |
dc.description.faculty | Third Faculty of Medicine | en_US |
dc.identifier.repId | 13463 | |
dc.title.translated | Retrospective diagnosis of unknown cause of sudden infant death | en_US |
dc.contributor.referee | Janda, Jan | |
dc.contributor.referee | Plavka, Richard | |
dc.contributor.referee | Vízek, Martin | |
dc.identifier.aleph | 001138894 | |
thesis.degree.name | Ph.D. | |
thesis.degree.level | doktorské | cs_CZ |
thesis.degree.discipline | - | en_US |
thesis.degree.discipline | - | cs_CZ |
thesis.degree.program | Human Physiology and Pathophysiology | en_US |
thesis.degree.program | Fyziologie a patofyziologie člověka | cs_CZ |
uk.thesis.type | dizertační práce | cs_CZ |
uk.taxonomy.organization-cs | 3. lékařská fakulta::Klinika dětí a dorostu 3. LF UK a FNKV | cs_CZ |
uk.taxonomy.organization-en | Third Faculty of Medicine::Department of Children and Adolescents 3FM CU and UHKV | en_US |
uk.faculty-name.cs | 3. lékařská fakulta | cs_CZ |
uk.faculty-name.en | Third Faculty of Medicine | en_US |
uk.faculty-abbr.cs | 3.LF | cs_CZ |
uk.degree-discipline.cs | - | cs_CZ |
uk.degree-discipline.en | - | en_US |
uk.degree-program.cs | Fyziologie a patofyziologie člověka | cs_CZ |
uk.degree-program.en | Human Physiology and Pathophysiology | en_US |
thesis.grade.cs | Prospěl/a | cs_CZ |
thesis.grade.en | Pass | en_US |
uk.abstract.en | 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... | en_US |
uk.file-availability | V | |
uk.grantor | Univerzita Karlova, 3. lékařská fakulta, Klinika dětí a dorostu 3. LF UK a FNKV | cs_CZ |
thesis.grade.code | P | |
dc.contributor.consultant | Votava, Felix | |
uk.publication-place | Praha | cs_CZ |
uk.thesis.defenceStatus | O | |
dc.identifier.lisID | 990011388940106986 | |