Genetic testing in sudden infant death – a wolf in sheep’s clothing?

Byard, Roger W.; Dobson, Craig P

doi:10.1007/s12024-018-0047-y

Cited by 3 publications

(2 citation statements)

References 20 publications

(15 reference statements)

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“…Therefore, additional staining, primarily immunohistochemical, is increasingly being used in post-mortem microscopic examinations worldwide [11,12]. Molecular examinations for the congenital basis of sudden death in Poland is still rarely performed, although it is known from the literature that it is an important supplement to traditional post-mortem diagnostics [13][14][15]. The literature describes cases of post-mortem detection by genetic testing of rare metabolic diseases, such as medium-chain acetyl-CoA dehydrogenase (MCAD) deficiency or cardiovascular diseases, such as arrhythmogenic right ventricular cardiomyopathy, Brugada syndrome and other ion channel disorders) [16].…”

Section: Discussionmentioning

confidence: 99%

“…Dlatego coraz częściej na świecie w badaniach pośmiertnych mikroskopowych wykorzystuje się barwienia dodatkowe, przede wszystkim immunohistochemiczne [11,12]. Badania molekularne w kierunku wrodzonego podłoża nagłego zgonu w Polsce są jeszcze rzadko wykonywane, choć wiadomo z literatury, że stanowią istotne uzupełnienie tradycyjnej diagnostyki pośmiertnej [13][14][15]. W literaturze opisywane są przypadki wykrycia pośmiertnego przy pomocy badań genetycznych rzadkich chorób metabolicznych, np.…”

Section: Dyskusjaunclassified

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Medico-legal analysis of cases of children who died suddenly due to pneumonia undiagnosed in their lifetime

Szczepański

Skowronek

Sarecka-Hujar

et al. 2023

AMSIK

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Pneumonia is one of the most common causes of children’s hospitalization and death. The aim of the study was a medico-legal analysis of children who died suddenly due to pneumonia undiagnosed in their lifetime. The research was of a retrospective character and consisted in an analysis of prosecution files. The study included 47 children who died between 2011-2018 in whom pneumonia after post-mortem examination was indicated as the cause of death, as well as children in whom the cause of death, despite additional post-mortem examinations, including histopathological tests, was not established. In some cases, under additional post-mortem examinations, additional targeted immunohistochemical staining of selected lung sections was performed to establish the diagnosis. In children with prodromal symptoms, histopathological examination showed significantly more frequent atelectasis than in children without prodromal symptoms. Pneumonia is a significant clinical problem. Especially in young children, it may proceed with- out any symptoms that would cause such a diagnosis to be made. A properly conducted post-mortem diagnosis supplemented by immunohistochemical examinations allows to reduce the number of unexplained deaths in children.

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