scholarly journals A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases

2018 ◽  
Vol 07 (04) ◽  
pp. 143-149 ◽  
Author(s):  
Lorna Martin ◽  
Raj Ramesar ◽  
Laura Heathfield
Keyword(s):  
Systematic Review ◽  
Literature Review ◽  
Systematic Literature Review ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem ◽  
Unexpected Death ◽  
Molecular Autopsy ◽  
Death Cases

AbstractSudden unexpected death is an upsetting event, which can remain unexplained even after post-mortem investigation. Internationally, molecular autopsies have shown to resolve up to 44% of unexplained cases; however, it is currently unclear how many of these were infants. This systematic literature review showed that significantly fewer infant cases were resolved (median: 4%) compared with cohorts of 1 to 45 years old (median: 32%). Further, no study involving indigenous African participants has yet been published. Overall, molecular autopsies hold immense value to living family members and is motivation to explore new avenues in infant cohorts.

Cot Death

1981 ◽  
Vol 6 (2) ◽  
pp. 3-5
Author(s):  
Alan Williams
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem ◽  
Unexpected Death ◽  
Seasonal Incidence ◽  
Cot Death ◽  
Definition Of ◽  
Tragic Drama

Every fourth morning in Melbourne a mother goes to pick up her baby from its cot only to find that her baby is dead. This statement, which ignores the seasonal incidence of cot death, does indicate however both the frequency and the tragic drama of cot death.The first recorded case of probable cot death in Australia was recorded in 1810. I say probable as we have no means of knowing whether it would really fit the currently accepted definition of cot death which is “the sudden and unexpected death of an infant in whom a thorough post mortem examination does not disclose an adequate cause of death”. Some infants do die suddenly and unexpectedly from diseases such as myocarditis, meningitis, and gastro-enteritis. But these conditions are readily recognised by the pathologist who examines the baby after death. It is when he is unable to find evidence of any such lethal disease after a thorough examination that he records his verdict as cot death, or as it is usually labelled these days, Sudden Infant Death Syndrome or SIDS.

scholarly journals Aquaporin-1 and aquaporin-9 gene variations in sudden infant death syndrome

2021 ◽  
Author(s):  
Siri Hauge Opdal ◽  
Linda Ferrante ◽  
Torleiv Ole Rognum ◽  
Arne Stray-Pedersen
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Brain Function ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Unexpected Death ◽  
Aquaporin 9 ◽  
Genes Encoding ◽  
External Risk ◽  
The Brain

AbstractSeveral studies have indicated that a vulnerability in the development and regulation of brain function is involved in sudden infant death syndrome (SIDS). The aim of this study was to investigate the genes encoding the brain aquaporins (AQPs) AQP1 and AQP9 in SIDS. The hypothesis was that specific variants of these genes are part of the genetic vulnerability predisposing infants to sudden unexpected death. The study included 168 SIDS cases with a median age of 15.5 (range 2–52) weeks and 372 adolescent/adult deceased controls with a median age of 44 (range 11–91) years. In the AQP1 gene, the rs17159702 CC/CT genotypes were found to be associated with SIDS (p = 0.02). In the AQP9 gene, the combination of a TT genotype of rs8042354, rs2292711 and rs13329178 was more frequent in SIDS cases than in controls (p = 0.03). In the SIDS group, an association was found between genetic variations in the AQP1 gene and maternal smoking and between the 3xTT combination in the AQP9 gene and being found lifeless in a prone position. In conclusion, this study adds further evidence to the involvement of brain aquaporins in SIDS, suggesting that specific variants of AQP genes constitute a genetic predisposition, making the infant vulnerable to sudden death together with external risk factors and probably other genetic factors.

Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death

2017 ◽  
Vol 62 (11) ◽  
pp. 989-995 ◽  
Author(s):  
Yuki Oshima ◽  
Takuma Yamamoto ◽  
Taisuke Ishikawa ◽  
Hiroyuki Mishima ◽  
Aya Matsusue ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Infant Death ◽  
Genetic Screening ◽  
Sudden Infant Death ◽  
Sudden Unexpected Death ◽  
Sudden Infant ◽  
Unexpected Death

Unterschiede und Gemein-samkeiten zwischen plötzlichem Säuglingstod (SIDS), Münchhausen-Syndrom by proxy (MSBP) mit tödlichem Ausgang und Infantizid

2007 ◽  
Vol 35 (4) ◽  
pp. 237-246 ◽  
Author(s):  
Frank Häßler ◽  
Henryk Zamorski ◽  
Steffen Weirich
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem ◽  
Plötzlicher Säuglingstod

Zusammenfassung: Einleitung: Plötzlicher Säuglingstod - sudden infant death syndrome (SIDS) - ist die häufigste Todesursache im ersten Lebensjahr. Er ist definiert als der plötzliche und unerwartete Tod eines Säuglings, welcher weder durch die Vorgeschichte noch durch post-mortem Untersuchungen erklärt werden kann. Die Inzidenz in der BRD hat von 1,7 auf 1000 Lebendgeburten im Jahre 1990 auf 0,62 im Jahre 2000 abgenommen. Hinter 5 bis 11% der SIDS Fälle verbergen sich Infantizide. Diese Kindstötungen können durch ein Münchhausen-Syndrom by proxy (MSBP) verursacht sein. MSBP ist eine Form der Kindesmisshandlung, bei der die Eltern bzw. Sorgeberechtigten über einen längeren Zeitraum Symptome oder Krankheiten ihres Kindes erfinden oder gar induzieren (provozieren), was dem Kind zweifelsfrei Schaden zufügt. Kasuistik: In einer Familie mit drei Kindern starb die jüngste Tochter im Alter von 17 Monaten an einer Apnoe-Attacke. Zuvor war sie 11mal stationär in den verschiedensten Kinderkliniken der Region behandelt worden, ohne dass die Eingangssymptome wie Krampfanfälle, Atemnotsyndrom und Durchfälle objektiviert werden konnten. Die rechtsmedizinisch toxikologische Untersuchung wies post mortem Koffein im Blut nach. Eine natürliche Todesursache bzw. ein Unfall schienen klinisch eher unwahrscheinlich. Schlussfolgerungen: Für die Unterscheidung zwischen SIDS, MSBP und Infantiziden sollte auf sich wiederholende Krankheitssymptome, häufige Krankenhausaufenthalte bzw. ambulante Vorstellungen, keine verifizierbare Diagnose, eine gewisse Therapieresistenz, unklare Krankheiten oder Todesfälle bei Geschwistern, wiederholte Vergiftungs- bzw. Erstickungserscheinungen geachtet werden. Die Differenzierung sollte sehr sorgfältig und tiefgründig erfolgen, da die zu ziehenden Konsequenzen von Fall zu Fall variieren und weitreichend sein können.

Targeted Metabolic Profiling of Post-Mortem Brain from Infants Who Died from Sudden Infant Death Syndrome

2017 ◽  
Vol 16 (7) ◽  
pp. 2587-2596 ◽  
Author(s):  
Stewart F. Graham ◽  
Onur Turkoglu ◽  
Praveen Kumar ◽  
Ali Yilmaz ◽  
Trent C. Bjorndahl ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Metabolic Profiling ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem ◽  
Post Mortem Brain

scholarly journals Post Mortem Neopterin Concentrations in Sudden Infant Death Syndrome (SIDS)

Pteridines ◽  
1990 ◽  
Vol 2 (1) ◽  
pp. 47-49 ◽  
Author(s):  
Edda Ambach ◽  
Wolfgang Tributsch ◽  
Dietmar Fuchs ◽  
Arno Hausen ◽  
Gilbert Reibnegger ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem

Post-mortem MRI reveals CPT2 deficiency after sudden infant death

2010 ◽  
Vol 169 (12) ◽  
pp. 1561-1563 ◽  
Author(s):  
Karim Bouchireb ◽  
Anne-Marie Teychene ◽  
Odile Rigal ◽  
Pascale de Lonlay ◽  
Vassili Valayannopoulos ◽  
...  
Keyword(s):  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Post Mortem
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