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Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.

Sudden infant death syndrome (SIDS) is the most frequent manner of post-perinatal death among infants. One of the suggested causes of the syndrome is inherited cardiac diseases, mainly channelopathies, that can trigger arrhythmias and sudden death. The purpose of this study was to investigate cases of sudden unexpected death in infancy (SUDI) for potential causative variants in 100 cardiac-associated genes. We investigated 47 SUDI cases of which 38 had previously been screened for variants in RYR2, KCNQ1, KCNH2 and SCN5A. Using the Haloplex Target Enrichment System (Agilent) and next-generation sequencing (NGS), the coding regions of 100 genes associated with inherited channelopathies and cardiomyopathies were captured and sequenced on the Illumina MiSeq platform. Sixteen (34%) of the SUDI cases had variants with likely functional effects, based on conservation, computational prediction and allele frequency, in one or more of the genes screened. The possible effects of the variants were not verified with family or functional studies. Eight (17%) of the SUDI cases had variants in genes affecting ion channel functions. The remaining eight cases had variants in genes associated with cardiomyopathies. In total, one third of the SUDI victims in a forensic setting had variants with likely functional effect that presumably contributed to the cause of death. The results support the assumption that channelopathies are important causes of SUDI. Thus, analysis of genes associated with cardiac diseases in SUDI victims is important in the forensic setting and a valuable supplement to the clinical investigation in all cases of sudden death.

ObjectivesDisturbances of the central nervous system and immune system are thought to play a role in sudden infant death syndrome (SIDS). Dysregulated expression of sodium (Na+)/hydrogen (H+) exchanger 3 (NHE3) in the brainstem and of interleukin 13 (IL13) in the lungs has been observed in SIDS. An association of single-nucleotide polymorphisms (SNPs) in NHE3 and IL13 with SIDS has been proposed, but controversial results were reported. Therefore, there is a need to revisit the association of SNPs in NHE3 and IL13 with SIDS.MethodsGenotyping of rs71597645 (G1131A) and rs2247114 (C2405T) in NHE3 and rs20541 (+ 4464A/G) in IL13 was performed in 201 SIDS cases and 338 controls. A meta-analysis was performed after merging our data with previously published data (all from European populations).ResultsPolymorphisms rs2247114 (NHE3) and rs20541 (IL13) were significantly associated with SIDS overall and in multiple subgroups, but no association was found for rs71597645 (NHE3). After combining our data with previously published data, a fixed-effect meta-analysis showed that rs2247114 in NHE3 retained a significant association with SIDS under a recessive model (OR 2.78, 95%CI 1.53 to 5.06; p = 0.0008).ConclusionOur findings suggest an association of NHE3 variant rs2247114 (C2405T), though not rs71597645 (NHE3), with SIDS. A potential role of rs20541 (IL13) still has to be elucidated. Especially NHE3 seems to be an interesting topic for future SIDS research.

Despite being widely used, few studies have assessed the utility of the San Diego definition of sudden infant death syndrome (SIDS). The purpose of this study was to evaluate pathologists’ application of the San Diego definition in all cases of sudden unexpected death in infancy (SUDI) that occurred in Queensland, Australia, between 2010 and 2014. Key coronial documents of 228 cases of SUDI were reviewed independently by three reviewers and classified according to the San Diego definition. Clear guidance regarding the evidentiary threshold for classification and interpretation of the San Diego definition was provided. All reviewers classified cases identically in 202 cases (88.6%). Consensus was achieved on the classification of the remaining 26 deaths following case discussion. After review, 79 cases were classified as SIDS, a one third reduction compared with the original classification, mainly due to a high probability of accidental asphyxia. The number of cases classified as undetermined (USID) almost doubled (75/228, 32.9%), and there was more than a fivefold increase in cases classified as asphyxia (43/228, 18.9%). Natural conditions decreased by approximately one third (21/228, 9.2%). This study demonstrates that with clear guidelines for interpretation, the San Diego definition can be applied reliably, with discrepancies resolved through a process of peer review.

Modifiable infant sleep and care practices are recognised as the most important factors parents and health practitioners can influence to reduce the risk of sleep-related infant mortality. Understanding caregiver awareness of, and perceptions relating to, public health messages and identifying trends in contemporary infant care practices are essential to appropriately inform and refine future infant safe sleep advice. This scoping review sought to examine the extent and nature of empirical literature concerning infant caregiver engagement with, and implementation of, safe sleep risk-reduction advice relating to Sudden Unexpected Deaths in Infancy (SUDI). Databases including PubMed, CINAHL, Scopus, Medline, EMBASE and Ovid were searched for relevant peer reviewed publications with publication dates set between January 2000–May 2021. A total of 137 articles met eligibility criteria. Review results map current infant sleeping and care practices that families adopt, primary infant caregivers’ awareness of safe infant sleep advice and the challenges that families encounter implementing safe sleep recommendations when caring for their infant. Findings demonstrate a need for ongoing monitoring of infant sleep practices and family engagement with safe sleep advice so that potential disparities and population groups at greater risk can be identified, with focused support strategies applied.

Background Filiano and Kinney proposed a triple-risk model for the sudden infant death syndrome (SIDS) that involves the intersection of three risks: (1) a vulnerable infant, (2) a critical developmental period in homeostatic control, and (3) an exogenous stressor(s). The primary evidence for the role of a critical developmental period in SIDS etiology is the peak of cases around the third month of life. Independently, several studies pointed to correlation between gestational age and age at death in SIDS, but used that to assess the SIDS risk for preterm infants, ignoring further ramifications. Methods We did a detailed analysis of CDC data spanning over two decades (1983–2011). We focused not only on the correlation between two age variables (gestational and age at death), but also on the possibility of misdiagnosis. Also, we attempted to account for potential biases in the data induced by the ICD-9/ICD-190 transition or the “Back to Sleep” campaign. Results The peak of deaths in the third month of life, that was the main argument for the role of the critical development period, wasn’t unique to SIDS. However, we confirmed an almost linear and negative correlation between gestational age and the week of death due to SIDS. This pattern (slope of correlation < 0 and significance of correlation p  < 0.05) is characteristic of SIDS among all diseases analyzed in the study. Conclusions We interpret the results as the evidence of the role of the critical development period in SIDS etiology. Possibly more attention in the future research should be put to theories that are based on homeostatic control.

Background. Pneumocystis without obvious accompanying pathology is occasionally reported in autopsied infant lungs. Its prevalence and significance are unknown. Interestingly, this mild infection induces a strong activation of mucus secretion—related genes in young immunocompetent rodents that has not been explored in infants. Excess mucus is induced by multiple airway offenders through nonspecific pathways and would explain a cofactor role of Pneumocystis in respiratory disease. We undertook characterization of the prevalence of Pneumocystis and associated mucus in infant lungs. Methods. Samples from 128 infants (mean age, 101 days) who died suddenly and unexpectedly in Santiago during 1999–2004 were examined for Pneumocystis using nested polymerase chain reaction (nPCR) amplification of the P. jirovecii mtLSU ribosomal RNA gene and immunofluorescence microscopy (IF). Pneumocystis-negative infants 28 days and older and their age-closest positives were studied for MUC5AC expression and Pneumocystis burden by Western blot and quantitative PCR, respectively. Results. Pneumocystis DNA was detected by nPCR in 105 of the 128 infants (82.0%) and Pneumocystis organisms were visualized by IF in 99 (94.3%) of the DNA-positive infants. The infection was commonest at 3–4 months with 40 of 41 (97.6%) infants of that age testing positive. MUC5AC was significantly increased in Pneumocystis-positive tissue specimens (P = .013). Death was unexplained in 113 (88.3%) infants; Pneumocystis was detected in 95 (84.0%) of them vs 10 of 15 (66.7%) with explained death (P = .28). Conclusions. A highly focal Pneumocystis infection associated to increased mucus expression is almost universally present in the lungs of infants dying unexpectedly in the community regardless of autopsy diagnosis.

The bassinet-like wahakura is an Indigenous initiative for the prevention of Sudden Unexpected Death in Infancy (SUDI). It was developed by New Zealand Maori in 2005 when Maori were rejecting the ‘stop bedsharing’ SUDI prevention message and the SUDI disparity between Maori and non-Maori had become entrenched. Made of native flax, the wahakura was promoted as a culturally resonant, in-bed safe sleep device that would disrupt the SUDI risk associated with ‘bedsharing where there was smoking in pregnancy’ without relying on smoking cessation. A significant movement of weavers and health professionals grew around the wahakura program. A body of research, including infant care surveys, retrospective case review, qualitative enquiry and a randomised controlled trial comparing wahakura and bassinet safety demonstrated the device’s public health plausibility, acceptability to Maori women and its essential safety. This facilitated the distribution, by District Health Boards, of safe sleep devices, including a related device called the Pepi-Pod, and safe sleep education to high-risk, mainly Maori, mothers. Infant mortality in New Zealand fell by 29%, primarily among Maori infants, over the period 2009–15, suggesting that Maori cultural concepts, traditional activities and community engagement can have a significant effect on ethnic inequities in infant mortality.

Background: Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged between one month and one year. Altered enzyme activities or expression of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) have been observed in SIDS patients that might lead to disturbed autonomic function and, together with other risk factors, might trigger SIDS. To explore the contribution of AChE and BChE from a genomic viewpoint, we sought to investigate the association between SIDS and selected single nucleotide polymorphisms (SNPs) in the ACHE and BCHE genes. Methods: In this case-control study, 13 potentially regulatory SNPs were selected from ACHE and BCHE and were genotyped in 201 SIDS cases and 338 controls. The association of SIDS with the 11 successfully genotyped candidate variants was examined using statistical analyses of overall or stratified cases and haplotype analyses. Results: No significant overall associations were observed between SIDS and ACHE and BCHE variants in allele, genotype, and haplotype analyses. In subgroup analyses, eight variants were found to be nominally associated with SIDS, though these associations did not remain statistically significant after correction for multiple comparisons. One haplotype (T-C-G-C-C in rs3495-rs1803274-rs1355538-rs2048493-rs1126680) of BCHE was associated with the female SIDS subgroup (57.3% in controls vs. 46.3% in female SIDS cases, p = 0.010). Conclusions: The selected variants in ACHE and BCHE were not overall associated with SIDS in this study, and thus cannot generally explain the previously reported dysregulation of enzyme activities in SIDS. However, some evidence of association in subgroups and a possible contribution of variants other than those tested here would need to be explored in larger studies.

Objective We examine whom, among her social network members, a new mother ranks as her most important source of advice for infant care practices and how the ranking of a network member depends on their connectedness to a mother's other network members. Background Previous research points to the influence of personal networks members' advice on parental practices. However, to design effective interventions that facilitate safe and healthy infant and childcare practices, it is important to understand who, in parents' social circles, they turn to most for advice. Method We recruited 402 Black and White new mothers in Washington, DC. We analyze the importance rank they assign to their 1,791 network members using nested, dyad‐level rank‐ordered logit models. Results Connectivity to a mother's other network members and being the mother's mother (i.e., the baby's maternal grandmother) emerged as positive and significant predictors of being ranked as the most important sources of advice. Additionally, the effect of being a grandmother is stronger among grandmothers who are well connected to mothers' other network members. Conclusion Network members who are well embedded in mothers' own networks are usually viewed by mothers as key sources of advice. Embeddedness is an especially significant condition for new mothers when ranking babies' maternal grandmothers as main advisors. Implications We encourage future research on mothers' network members as potential targets for infant and childrearing‐related interventions.