Disease relevance of Sudden Infant Death

• Because patients who have long QT syndrome with sodium channel gene (SCN5A) defects have an increased frequency of cardiac events during sleep, and a recent case is reported of a sporadic SCN5A mutation in an infant with near SIDS, SCN5A has emerged as the leading candidate ion channel gene for SIDS [1].
• Administration of dopamine inhibits respiration by direct action on the carotid body, and it is suggested that the elevated levels of endogenous catecholamines found in victims of sudden infant death syndrome may compromise the normal function of the carotid body, particularly the ventilatory response to hypoxia [2].
• These data suggest that medullary 5-HT dysfunction can lead to sleep-related, sudden death in affected SIDS infants, and confirm the same binding abnormalities reported by us in a larger dataset of non-American Indian SIDS and control infants [3].
• We evaluated the white matter immunoreactivity for betaAPP from a variety of pediatric medicolegal autopsies: natural disease (non-Sudden Infant Death Syndrome [SIDS]), SIDS, motor vehicle accidents, drowning, near-drowning, overlay, carbon monoxide toxicity, miscellaneous trauma, and mechanical asphyxia [4].
• Nicotine from cigarette smoke affects respiration and is a risk factor for sudden infant death syndrome (SIDS) and sleep-disordered breathing [5].

Psychiatry related information on Sudden Infant Death

• RESULTS: SID existed in the sample and were more common in patients with schizophrenia and psychotic depression than in patients with psychosis NOS and bipolar disorder [6].
• Plasma progesterone levels, infant temperament, arousals from sleep, and the sudden infant death syndrome [7].
• Decreased melatonin production with malfunction of REM sleep is proposed to be a cause of sudden infant death syndrome and Alzheimer's disease, because the loss of the antioxidant function of melatonin allows brain injury to occur [8].

High impact information on Sudden Infant Death

• The NMR structure of the complex formed by the PAH2 domain of mammalian Sin3A with the transrepression domain (SID) of human Mad1 reveals that both domains undergo mutual folding transitions upon complex formation generating an unusual left-handed four-helix bundle structure and an amphipathic alpha helix, respectively [9].
• SCD has also been linked to sudden infant death syndrome [10].
• High thiamine levels in sudden infant-death syndrome [11].
• The levels of biotin in the livers of infants who had died of sudden infant death syndrom (SIDS; cot death) were significantly lower than those in livers of infants of similar age, who had died of explicable causes [12].
• Biotin and the sudden infant death syndrome [12].

Chemical compound and disease context of Sudden Infant Death

• A significant decrease in [3H]quinuclidinyl benzilate binding to muscarinic receptors in the arcuate nucleus is now shown to occur in sudden infant death syndrome (SIDS) infants, compared to infants dying acutely of known causes [13].
• Normal thyroxine levels in sudden infant death [14].
• Carbon monoxide and near-miss cot death [15].
• Letter: Vitamin-E deficiency in cot deaths [16].
• To test this hypothesis, 23 polyvinyl chloride mattress samples from cot death cases were incubated on malt agar plates until good microbial growth was obtained [17].

Biological context of Sudden Infant Death

• RESULTS: Two of the 93 cases of SIDS possessed SCN5A mutations: a 6-week-old white male with an A997S missense mutation in exon 17 and a 1-month old white male with an R1826H mutation in exon 28 [1].
• Reports from the Netherlands, Great Britain, Australia, and New Zealand indicate that avoiding the prone position for infants in the first 6 months of life could reduce the number of SIDS deaths by as much as 50% [18].
• A fusion protein comprising the Mad1 SID linked to a Ga14 DNA binding domain mediates repression of minimal as well as complex promoters dependent on Ga14 DNA binding sites [19].
• In addition, the SID represses the transcriptional activity of linked VP16 and c-Myc transactivation domains [19].
• We have previously identified polymorphisms in the serotonin transporter gene promoter region and in intron 2 that were more common among sudden infant death syndrome (SIDS) cases compared with control subjects [20].

Anatomical context of Sudden Infant Death

• Carotid bodies from infants dying of sudden infant death syndrome contained significantly higher concentrations of dopamine (10-fold) and noradrenaline (3-fold) than those from age-matched control infants [2].
• Forty percent of the infants with SIDS and none of the control infants had a tryptase level greater than 10 ng/ml, the threshold chosen to indicate premortem mast cell activation [21].
• Erythrocyte transketolase activity and sudden infant death [22].
• Our research in SIDS brainstems, beginning in 1985 and involving a single, large dataset, has become increasingly focused upon a specific neurotransmitter (serotonin) and specific territories (ventral medulla and regions of the medullary reticular formation that contain secrotonergic neurons) [23].
• Epithelial cells and serous cells of seromucous glands contained binding sites for sialic acid in cases of SID and controls [24].

Gene context of Sudden Infant Death

• Furthermore, wild-type Mnt suppresses Myc+Ras cotransformation of primary cells, whereas Mnt containing a SID deletion cooperates with Ras in the absence of Myc to transform cells [25].
• Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome [1].
• We also define a 72-amino-acid sequence in CBP necessary for SRC1 binding, designated the SRC1 interaction domain (SID) [26].
• Furthermore, consanguineous parents of a child with sudden infant death syndrome should be examined for IGHMBP2 mutations [27].
• Deletion mutants of E1A and Ets-2 lacking the conserved motif were unable to bind the CBP SID [28].

Analytical, diagnostic and therapeutic context of Sudden Infant Death

• Tritiated-lysergic acid diethylamide binding to 5-HT(1A-D) and 5-HT2 receptors was measured in 19 brainstem nuclei in 23 SIDS and 6 control infants using tissue receptor autoradiography [3].
• We show through ion trajectory simulations and experimental results that implementing SID in a commercial MALDI TOF spectrometer is feasible and that the SID products in this instrument fall in an observation time frame that allows the specific detection of fast-fragmentation channels [29].
• CONCLUSIONS: On in vitro hemodilution, there is a simple linear relationship between diluent crystalloid SID and the rate and direction of change of plasma SID and whole blood base excess [30].
• Increased mast cell tryptase in sudden infant death - anaphylaxis, hypoxia or artefact [31]?
• Fourteen phenothiazine derivatives were tested for their detection by gas chromatography (GC) with surface ionization detection (SID) [32].

References