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Retrospective diagnosis of unknown cause of sudden infant death
dc.contributor.advisorLebl, Jan
dc.creatorStrnadová, Kristina
dc.date.accessioned2021-09-06T15:38:15Z
dc.date.available2021-09-06T15:38:15Z
dc.date.issued2008
dc.identifier.urihttp://hdl.handle.net/20.500.11956/19248
dc.description.abstractBackground: 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.languageČeštinacs_CZ
dc.language.isocs_CZ
dc.publisherUniverzita Karlova, 3. lékařská fakultacs_CZ
dc.titleRetrospektivní diagnostika nepoznaných příčin náhlého úmrtí kojencecs_CZ
dc.typedizertační prácecs_CZ
dcterms.created2008
dcterms.dateAccepted2008-11-20
dc.description.departmentDepartment of Children and Adolescents 3FM CU and UHKVen_US
dc.description.departmentKlinika dětí a dorostu 3. LF UK a FNKVcs_CZ
dc.description.faculty3. lékařská fakultacs_CZ
dc.description.facultyThird Faculty of Medicineen_US
dc.identifier.repId13463
dc.title.translatedRetrospective diagnosis of unknown cause of sudden infant deathen_US
dc.contributor.refereeJanda, Jan
dc.contributor.refereePlavka, Richard
dc.contributor.refereeVízek, Martin
dc.identifier.aleph001138894
thesis.degree.namePh.D.
thesis.degree.leveldoktorskécs_CZ
thesis.degree.discipline-en_US
thesis.degree.discipline-cs_CZ
thesis.degree.programHuman Physiology and Pathophysiologyen_US
thesis.degree.programFyziologie a patofyziologie člověkacs_CZ
uk.thesis.typedizertační prácecs_CZ
uk.taxonomy.organization-cs3. lékařská fakulta::Klinika dětí a dorostu 3. LF UK a FNKVcs_CZ
uk.taxonomy.organization-enThird Faculty of Medicine::Department of Children and Adolescents 3FM CU and UHKVen_US
uk.faculty-name.cs3. lékařská fakultacs_CZ
uk.faculty-name.enThird Faculty of Medicineen_US
uk.faculty-abbr.cs3.LFcs_CZ
uk.degree-discipline.cs-cs_CZ
uk.degree-discipline.en-en_US
uk.degree-program.csFyziologie a patofyziologie člověkacs_CZ
uk.degree-program.enHuman Physiology and Pathophysiologyen_US
thesis.grade.csProspěl/acs_CZ
thesis.grade.enPassen_US
uk.abstract.enBackground: 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-availabilityV
uk.grantorUniverzita Karlova, 3. lékařská fakulta, Klinika dětí a dorostu 3. LF UK a FNKVcs_CZ
thesis.grade.codeP
dc.contributor.consultantVotava, Felix
uk.publication-placePrahacs_CZ
uk.thesis.defenceStatusO
dc.identifier.lisID990011388940106986


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