Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA380020 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR5378440_1.fastq.gz | Fastqsanger.gz | |||
| SRR5378440_2.fastq.gz | Fastqsanger.gz | |||
| SRR5378450_1.fastq.gz | Fastqsanger.gz | |||
| SRR5378450_2.fastq.gz | Fastqsanger.gz | |||
| SRR5378460_1.fastq.gz | Fastqsanger.gz |
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Project description:Antemortem infection is a risk factor for sudden infant death syndrome (SIDS) – the leading postneonatal cause of infant mortality in the developed world. Manifestations of infection and attendant inflammation, however, are not always apparent in clinical settings or by standard autopsy, thus enhanced resolution approaches are needed. Here we screened postmortem SIDS tissues and fluids for inflammatory markers and applied metagenomics and transcriptomics to a subset of cases to look for evidence of occult infection and inflammation.
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Project description:Serum samples were collected postmortem from infants dying of Sudden Infant Death Syndrome.
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Project description:Purpose: Traumatic brain injury (TBI), including pediatric abusive head trauma (AHT), is the leading cause of death and disability in children and young adults worldwide. The current understanding of trauma-induced molecular changes in the brain of human subjects with intracranial haemorrhage (ICH) remains inadequate and requires further investigation to improve the outcome and management of TBI in the clinic. Calcium-mediated damage at the site of brain injury has been shown to activate several catalytic enzymes. Experimental design: Serine hydrolases (SHs) are major catalytic enzymes involved in the biochemical pathways of blood coagulation, systemic inflammation and neuronal signaling. Here we investigated activity-based protein profiling (ABPP) by measuring the activity status of SH enzymes in the serum of infants with severe ICH as a consequence of AHT or atraumatic infants who died of sudden infant death syndrome (SIDS). Results: Our proof-of-principle study revealed significantly reduced physiological activity of dozens of metabolic SHs in the serum of infants with severe AHT compared to the SIDS group, with some of the enzymes being related to neurodevelopment and basic brain metabolism.
2025-06-26 | PXD057319 | Pride
Project description:Transcriptomic analysis of neuroinflammation and occult infection in sudden infant death syndrome
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Project description:Genetic predispositions in cases suffering sudden unexpected infant death have been a research focus worldwide the last decade. Despite large efforts there is still uncertainty concerning the molecular pathogenesis of these deaths. With genetic technology in constant development the possibility of an alternative approach into this research field have become available, like mRNA expression studies. Methods: In this study we investigated mRNA gene expression in 14 cases that died suddenly and unexpectedly from infection without a history of severe illness prior to death. The control group included eight accidents, two cases of natural death, one undetermined, one case of medical malpractice and two homicides. The study included tissue from liver, heart and brain. The mRNA expression was determined using Illumina whole genome gene expression DASL HT assay. Results: From the array, 19 genes showed altered expression in the infectious deaths compared to controls. The heart was the organ were most genes showed altered expression: 15 genes showed different mRNA expression compared to the control group. Conclusion: Down-regulation of KCNE5 in heart tissue from cases of infectious death was of particular interest. Variants of KCNE5 are associated with Brugada syndrome KCNE5 gene is known to give increased risk of cardiac arrhythmia and sudden death, and could be responsible for the fatal outcome in the group of infectious death.
2019-10-01 | GSE136992 | GEO
Project description:Sudden unexplained death in childhood (SUDC) is death of a child 12 months old that is unexplained after autopsy and detailed analyses. Among SUDC cases, 28.8% have febrile seizure (FS) history, versus 2-5% in the general population. SUDC cases share features with sudden unexpected death in epilepsy (SUDEP) and sudden infant death syndrome (SIDS), in which brainstem autonomic dysfunction is implicated. To understand whether brainstem protein changes are associated with FS history in SUDC, we performed label-free quantitative mass spectrometry on microdissected midbrain dorsal raphe, medullary raphe, and the ventrolateral medulla (n=8 SUDC-noFS, n=11 SUDC-FS). Differential expression analysis at p<0.05 identified 178 altered proteins in dorsal raphe, 344 in medullary raphe, and 100 in the ventrolateral medulla. These proteins were most significantly associated with increased eukaryotic translation initiation (p=3.09x10-7, z=1.00), eukaryotic translation elongation (p=6.31x10-49, z=6.01), and coagulation system (p=1.32x10-5, z=1.00), respectively. The medullary raphe had the strongest enrichment for altered signaling pathways, including with comparisons to three other brain regions previously analyzed (frontal cortex, hippocampal dentate gyrus, cornu ammonus). Histological analyses of serotonin receptors identified 2.1-fold increased 5HT2A in the medullary raphe of SUDC-FS (p= 0.025). Weighted gene correlation network analysis (WGCNA) of case history indicated that longer FS history duration significantly correlated with protein levels in the medullary raphe and ventrolateral medulla; the most significant gene ontology biological processes were decreased cellular respiration (p=9.8x10-5, corr=-0.80) in medullary raphe and synaptic vesicle cycle (p=1.60x10-7, corr=-0.90) in the ventrolateral medulla. Overall, FS in SUDC was associated with more protein differences in the medullary raphe and was related to increased translation-related signaling pathways. Our study informs on SUDC pathogenesis and the potential development of prognostic biomarkers and preventive therapeutic strategies.
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Project description:Comparative analysis of microRNA expression in serum-derived extracellular vesicles from sudden infant death syndrome cases
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Project description:The purpose of this study was to investigate gene expression in SIDS cases and controls, in order to uncover genes that are differentially expressed in the two groups. Tissue from brain, heart and liver from 15 SIDS cases and 15 controls were included in this study, and mRNA expression was determined using the Illumina whole genome gene expression DASL HT assay
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