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.

Neuropathology of Early Sudden Infant Death Syndrome—Hypoplasia of the Pontine Kolliker-Fuse Nucleus: A Possible Marker of Unexpected Collapse during Skin-to-Skin Care

2018 ◽  
Vol 36 (05) ◽  
pp. 460-471 ◽  
Author(s):  
Anna Lavezzi ◽  
Stefano Ferrero ◽  
Beatrice Paradiso ◽  
Liliya Chamitava ◽  
Francesco Piscioli ◽  
...  
Keyword(s):  
Brain Stem ◽  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Skin Care ◽  
Sudden Infant ◽  
Neonatal Deaths ◽  
Specific Finding ◽  
Skin To Skin ◽  
The Brain

Objective To find a possible pathogenetic mechanism of the early sudden infant death occurring in newborns during the skin-to-skin care (SSC), through the examination of neuronal centers regulating the vital activities. Study Design This is an in-depth examination of the brain stem in 22 healthy term newborns, suddenly died in the first hour of life without the identification of a cause at autopsy (early sudden infant death syndrome [eSIDS]), 12 of them concomitantly with SSC, and 10 with age-matched controls died of known pathology. Results Developmental alterations of neuronal structures of the brain stem were highlighted in 19 of the 22 eSIDS, but not in control. The hypoplasia of the pontine Kölliker-Fuse nucleus (KFN), an important respiratory center, was diagnosed at the histological examination, validated by morphometric quantifications, in 11 of the 12 eSIDS while they were placed on the mother's chest and in 2 of the 10 SSC unrelated neonatal deaths. Conclusion The delayed development of the KFN could represent a specific finding of eSIDS occurring during SSC. Therefore, it is necessary to point out that the SSC represents a further risk factor that must be added to others already known for sudden infant death syndrome. Then this practice needs appropriate monitoring strategies of the infant's conditions.

Sudden Infant Death Syndrome (SIDS) in Denmark: Evaluation of the Increasing Incidence of Registered SIDS in the Period 1972 to 1983 and Results of a Prospective Study in 1987 through 1988

PEDIATRICS ◽  
1992 ◽  
Vol 89 (5) ◽  
pp. 855-859
Author(s):  
Karin Helweg-Larsen ◽  
Lisbeth B. Knudsen ◽  
Markil Gregersen ◽  
Jørn Simonsen
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Respiratory Infections ◽  
Sudden Infant Death ◽  
Epidemiological Studies ◽  
Sudden Infant ◽  
Unexpected Death ◽  
National Board ◽  
Infant Deaths ◽  
Live Births

To investigate a reported increase, from 0.4 to 1.3 per thousand live births, in the Danish incidence of sudden infant death syndrome (SIDS), a retrospective analysis of SIDS in Denmark from 1972 to 1983 was carried out. Based on data registered with the National Board of Health, a notable regional difference in SIDS rate between the western and eastern parts of Denmark was found. This difference did not correlate with the overall postneonatal mortality by region. Danish law requires medicolegal investigation in all cases of sudden unexpected death. Medicolegal autopsies are performed only in the three forensic institutes which cover all of Denmark. Despite the law and a uniform organization of the forensic medical services, differing application of postmortem examinations and individual interpretation of the history and autopsy in cases of sudden infant death existed. Differences in reporting of respiratory infections, suffocation, and cardiac malformation were found to contribute to the increase and to regional disparities in SIDS incidence. The three Danish forensic institutes examined all cases of sudden infant deaths in Denmark 1987 and 1988. These cases were classified as explained cause of death, pure SIDS, and atypical SIDS; atypical cases were evaluated by consensus. The SIDS incidence (the number of classic SIDS and atypical SIDS per thousand live births) was 1.9 in 1987 and 1.3 in 1988, and it was identical in the eastern and western part of Denmark; however, a higher incidence both of overall postneonatal and SIDS mortality was found in the middle region of Denmark. The analysis stresses the importance of high autopsy rate and expert investigation in all cases of infant death in order to obtain reliable data for epidemiological studies. A prospective joint study of all postneonatal infant deaths in Finland, Iceland, Norway, Sweden, and Denmark will be carried out to analyze the reliability and the possible cause of reported differences in SIDS incidence in the five Nordic countries.

A CASE OF SUDDEN INFANT DEATH SYNDROME (SIDS) AS REPORTED IN 1863

PEDIATRICS ◽  
1982 ◽  
Vol 70 (3) ◽  
pp. 369-369
Author(s):  
T. E. C.
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Harvard Medical School ◽  
Medical Literature ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Perfect Health ◽  
Serous Effusion ◽  
The Face ◽  
The Brain

On March 9, 1863, Dr David Cheever, Adjunct Professor of Clinical Surgery at the Harvard Medical School, presented the following case report of the sudden infant death syndrome at a meeting of the Boston Society for Medical Improvement.1 His report is one of the earliest descriptions of this syndrome in the American medical literature. An infant, 10 weeks old, apparently in perfect health, suddenly died while sleeping, and after having been asleep one and a half hours. There had been no struggle, and the face was not livid. On post-mortem examination, Dr C. found no morbid appearances, except some serous effusion in the ventricles and at the base of the brain; the latter organ was also somewhat congested. The thoracic organs were all healthy, and the larynx free of obstruction. An infant cousin of the child had died in a precisely similar manner. Dr C. was unable to account for the death, unless the effusion might possibly have been accumulating insidiously for some time until it became sufficient to destroy life.

scholarly journals Cerebellar heterotopia of infancy in sudden infant death syndrome: an observational neuropathological study of four cases

2020 ◽  
Vol 134 (6) ◽  
pp. 2143-2147
Author(s):  
Jakob Matschke ◽  
Jan-Peter Sperhake ◽  
Nadine Wilke ◽  
Klaus Püschel ◽  
Markus Glatzel
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Respiratory Control ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Unexpected Death ◽  
Extrinsic Factors ◽  
Cardiorespiratory Control ◽  
Major Player ◽  
Potential Impact

Abstract Sudden infant death syndrome (SIDS) is the sudden unexpected death of an infant < 1 year of age that remains unexplained after comprehensive workup including complete autopsy and investigation of the circumstances of death. The triple risk hypothesis posits that SIDS results as a combination of both intrinsic and extrinsic factors on the background of a predisposing vulnerability. Neuropathological examination in the past has focussed mainly on the brainstem as the major player in respiratory control, where subtle findings have been linked to the chain of events leading to death in SIDS. The cerebellum has received less attention, probably due to an assumed negligible role in central cardiorespiratory control. We report four cases of SIDS in which neuropathological investigation revealed cerebellar heterotopia of infancy, a distinct malformation of the cerebellum, and discuss the potential impact of this condition on the aetiology and pathogenesis of SIDS.

Sudden unexpected death 12 years after “near-miss” sudden infant death syndrome in infancy

1986 ◽  
Vol 58 (11) ◽  
pp. 1104-1105 ◽  
Author(s):  
Barry J. Maron ◽  
Deborah J. Barbour ◽  
John V. Marraccini ◽  
William C. Roberts
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Near Miss ◽  
Sudden Unexpected Death ◽  
Sudden Infant ◽  
Unexpected Death

scholarly journals POSSIBLE NEUROGENIC MECHANISMS SUDDEN INFANT DEATH SYNDROME

2020 ◽  
Author(s):  
Anatoly V. Kopylov
Keyword(s):  
Sudden Death ◽  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Fatal Outcome ◽  
Sudden Infant Death ◽  
Sudden Death Syndrome ◽  
Vegetative Nucleus ◽  
Elastic Membrane ◽  
Sudden Infant ◽  
The Brain

Sudden infant death syndrome (SIDS) is an unexpected non-violent death of apparently healthy child aged 7 days to 1 year, in which the anamnesis and autopsy data do not allow to find out the cause of the fatal outcome. Researchers have not come to a consensus on the thanatological role of morphological changes in the brain. Aim. To determine pathomorphological changes in the brain in the case of sudden death syndrome in children. Material and methods. Forensic medical studies of 118 deaths of healthy children who died suddenly for the period 2008-2017 were carried out and analyzed on the territory of the Stavropol region. Autopsy material was divided into groups: the main group (1) consisted of 74 observations (62.8%), where SIDS was the main final sectional diagnosis. The comparison group (2) consisted of 44 (37.2%) observations; the children died suddenly at home as a result of viral-bacterial pneumonia. For control, the third group was formed (3), which included 45 observations, where the death of children occurred as a result of drowning and carbon monoxide poisoning. Results and its discussion. A histological examination of pieces of the brain in the case of sudden death syndrome revealed the foci of angiomatosis of the vessels of the pia mater and brain matter with the normal structure of the elastic membrane of the arteries, the effects of glial proliferation in the subependymal region of the lateral ventricles and subcortical formations. In the medulla oblongata, in a detailed study of the posterior (vegetative) nucleus of the vagus nerve, degenerative changes in neurons were detected in the form of chromatolysis and karyolysis, a glial reaction of the type of neuronophagy. Conclusion. Pathomorphological changes in the brain stem may be due to combined intrauterine hypoxic and intrapartum traumatic factors, which, potentiating each other, lead to dysregulation of the respiratory rhythm with the development of a fatal outcome during sleep.

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