Search Results (45)

Background: Congenital tracheal stenosis (CTS) caused by complete tracheal rings and absence of the pars membranacea is rare and potentially lethal in infancy. Agenesis or hypoplasia of the medullary arcuate nucleus (ARC), a chemosensitive component of the ventral medullary surface, has been implicated in disordered respiratory control in sudden perinatal and infant deaths. The coexistence of these two abnormalities is uncommon. Case: A 2-month-old male infant, apparently healthy, was found unresponsive on his parents’ bed in the early morning. The pregnancy was uncomplicated, aside from maternal obesity and tobacco use. Given a context compatible with either sudden natural death or accidental overlay/suffocation, a full forensic autopsy was ordered. An external examination showed diffuse cyanosis and minor superficial abrasions without significant trauma. An internal examination revealed heavy, congested lungs with petechiae and cerebral edema. The heart and great vessels were anatomically normal, and the ductus arteriosus was closed. Histological examination demonstrated congenital tracheal stenosis characterized by complete cartilaginous rings with absent pars membranacea and bilateral agenesis of the medullary arcuate nucleus. The overall findings supported an acute hypoxic–ischemic event during sleep. Conclusions: This case documents a rare, isolated CTS with complete rings and absent pars membranacea coexisting with bilateral ARC agenesis, providing a plausible organic substrate (“cum materia”) for sudden unexpected death in infancy (SUDI). It underscores the importance of standardized neuropathological examination with serial brainstem sections in SUDI investigations and of distinguishing explained SUDI from sudden infant death syndrome (SIDS), which remains unexplained after complete investigation (“sine materia”). Full article

Sudden unexpected death in infancy (SUDI) remains a major challenge in pediatric pathology and forensic medicine. Despite advances in diagnostic techniques, many cases are still classified as unexplained and labeled as sudden infant death syndrome (SIDS). Increasing evidence suggests that a proportion of these deaths may be due to “hidden” causes not detectable through routine post-mortem examination. A narrative review of the literature (2000–2026) was conducted using PubMed and Scopus, focusing on under-recognized causes of SUDI and their diagnostic implications. Relevant studies were selected and organized into major pathological and forensic categories. Hidden causes of SUDI include a wide spectrum of conditions. Cardiac disorders—such as myocarditis, cardiomyopathies, and inherited arrhythmogenic syndromes—are frequently implicated and may require molecular autopsy for detection. Infectious diseases, often presenting with minimal or nonspecific findings, represent another important category, particularly viral and bacterial infections. Inborn errors of metabolism, especially fatty acid oxidation defects, may lead to sudden death in the absence of specific autopsy findings, highlighting the role of biochemical analyses. Neuropathological abnormalities involving brainstem regulatory systems may contribute to impaired autonomic control. Environmental, toxicological, and medico-legal factors—including unsafe sleep conditions, toxic exposures, and inflicted injury—must also be considered. SUDI is a multifactorial entity in which many unexplained deaths may be attributable to identifiable but overlooked conditions. A standardized, multidisciplinary approach integrating autopsy, ancillary investigations, and molecular diagnostics is essential to improve diagnostic accuracy and support prevention strategies. Full article

COVID-19 remains a challenge to the global healthcare despite the end of the pandemic, including due to the significant involvement of children in the epidemic process. During the pandemic period, an increase in the incidence of Sudden Unexpected Infant Death (SUID) and Sudden Infant Death Syndrome (SIDS) was observed. Currently, their rates remain elevated compared to the prepandemic period. The pathogenetic mechanisms underlying the fulminant course of infection in infants leading to fatal outcomes remain insufficiently understood. In this study, we report for the first time the results of histological and immunohistochemical examination of the lungs in a case of COVID-19-associated SUID in a 2-month-old infant. The absence of similar studies in the available literature limits opportunities for analyzing the pathogenesis of SUID. Our data allow a detailed characterization of the histological changes in the lungs, the localization and range of SARS-CoV-2 nucleocapsid protein expression, the identification of molecular mechanisms underlying apoptosis in the pulmonary microvascular endothelium, and the elucidation of the role of endothelial dysfunction. Particular attention in this article is devoted to the role of cytokines (IL-6, TNF-α, and IFN-γ) in the pathogenesis of hyperacute viral infection. The obtained data demonstrate substantial differences between the observed changes and the classic presentation of COVID-19 in older children. These findings offer prospects for improving prevention strategies and developing targeted therapy for fulminant forms of COVID-19, while also contributing to the understanding of SIDS pathogenesis. Full article

Sudden Infant Death Syndrome (SIDS) continues to be one of the most challenging and tragic causes of infant mortality in developed countries. While public health interventions have reduced its prevalence, the underlying mechanisms contributing to SIDS remain largely unclear. The biological basis of SIDS is widely believed to be multifactorial in nature, involving inherited genetic vulnerabilities, including mutations in cardiac ion channels and genes associated with brainstem serotonin function, metabolic enzymes, and inflammatory mediators. This review presents a comprehensive analysis of genetic studies relating to SIDS, incorporating recent findings from molecular autopsies, genome-wide association studies and functional assays. It also explores how gene–environment interactions, polygenic risk scores, and multi-omic strategies are reshaping our understanding of this complex condition. The review aims to integrate recent insights from molecular autopsy, genomic profiling, and gene–environment interactions to offer a framework for better risk assessment and the stratification of vulnerable infants who could benefit from targeted clinical and public health interventions. Full article

Sudden Infant Death Syndrome (SIDS) is one of the leading causes of postnatal mortality, with the prone sleeping position identified as a critical risk factor. This article presents the design, implementation, and validation of a low-cost embedded system for unobtrusive, real-time monitoring of infant posture. The system acquires data from a pressure mat on which the infant rests, converting the pressure matrix into an image representing the postural imprint. A Convolutional Neural Network (CNN) has been trained to classify these images and distinguish between prone and supine positions with high accuracy. The trained model was optimized and deployed in a data acquisition and processing system (DAQ) based on the Raspberry Pi platform, enabling local and autonomous inference. To prevent false positives, the system activates a visual and audible alarm upon detection of a sustained risk position, alongside remote notifications via the MQTT protocol. The results demonstrate that the prototype is capable of reliably and continuously identifying the infant’s posture when used by people who are not technology experts. We conclude that it is feasible to develop an autonomous, accessible, and effective monitoring system that can serve as a support tool for caregivers and as a technological basis for new strategies in SIDS prevention. Full article

Cannabis is one of the most studied psychoactive substances due to its increasing prevalence and evolving legal status. Of particular concern is the rising consumption among young individuals, where excessive use may disrupt reproductive processes and pose long-term health risks to offspring. This narrative review examines the effects of cannabis use on male and female reproductive health, including its impact on male fertility, the female reproductive system, placental function, and prenatal and postnatal outcomes, as well as fetal development. A nonsystematic review was conducted using PubMed, Scopus, Web of Science, and Google Scholar databases in November 2024. After screening titles and abstracts and the full-text analysis, 64 studies were included in this narrative review. In men, cannabinoids can interfere with spermatogenesis, reduce sperm motility and quality, and lower testosterone levels, as demonstrated in clinical and experimental studies. In women, cannabinoid-induced disorders include negative effects on ovarian follicle maturation, ovulation, placental function, and prenatal development. Prenatal exposure to cannabis is associated with the risk of reduced birth weight, birth defects, sudden infant death syndrome (SIDS) or lactation problems due to the penetration of cannabis metabolites into breast milk. The findings highlight the potential negative effects of cannabis on reproductive health and fetal development. Given these risks, individuals attempting to conceive, and pregnant women should be advised against cannabis use. Greater awareness is needed among healthcare professionals and the public regarding the reproductive risks associated with cannabis consumption. While the evidence on teratogenic effects is not always conclusive, caution should be exercised, and further research is essential to deepen the understanding of these effects. Full article

Objective: Sudden infant death syndrome (SIDS), sudden neonatal unexpected death (SNUD), and sudden intrauterine unexpected death (SIUD) are major unsolved, shocking forms of death that occur frequently and without warning. The body of literature on the anatomo-pathological substrates in the cardiac conduction system of SIDS-SIUD and their possible relationship with risk factors and triggers is fragmentary and scarce. The work aims is to analyze the cardiac conduction system findings collected at the national referral center for SIDS-SIUD. Methods: A total of 123 autopsied cases of SIDS (59.35% males, 40.65% females, mean age ± SD: 103.49 ± 67.17 days), 36 cases of SNUD (61.11% males, 38.89% females, mean age ± SD: 8.4 ± 9.17 days), and 127 cases of SIUD (45.67% males, 54.33% females, mean age ± SD: 36 ± 4.59 gestational weeks) were analyzed. In-depth pathological examinations of the cardiac conduction system were performed on serial sections according to the Lino Rossi Research Center’s protocol. Results: Among the studied cases, the following findings were observed: resorptive degeneration (SIDS: 88.7%, SNUD: 88.88%, SIUD: 56.69%), fetal dispersion (SIDS: 73.17%, SNUD: 91.66%, SIUD: 78.74%), Mahaim fibers (SIDS: 40.65%, SNUD: 44.44%, SIUD: 32.28%), cartilaginous meta-hyperplasia (SIDS: 56.91%, SNUD: 25%, SIUD: 33.07%), septated atrio-ventricular junction (AVJ) (SIDS: 21.14%, SNUD: 33.33%, SIUD: 38.58%), AVJ duplicity (SIDS: 6.5%, SNUD: 11.11%, SIUD: 2.36%), intramural bifurcation (SIDS: 3.25%, SNUD: 2.77%, SIUD: 4.72%). Conclusions: The prevalence of cardiac conduction findings was consistent across the SIDS, SNUD and SIUD groups. These findings provide valuable insights into the pathological characteristics of the cardiac conduction system in SIDS-SIUD that are potential morphological substrates for the development of cardiac arrhythmias. Further investigation and study of the conduction system are needed to understand the underlying mechanisms of these forms of death. Full article

Myocarditis, an inflammatory disease of the myocardium, is increasingly recognized as a potential contributor to sudden infant death syndrome (SIDS), though often underdiagnosed. This study reviews the current literature on the association between myocarditis and sudden death in infants, with a focus on autopsy and histopathological findings. A comprehensive search of the PubMed database yielded 64 studies published between 1960 and 2024; after applying specific inclusion criteria—such as patient age (0–6 years), presence of autopsy data, and forensic investigation—40 studies were analyzed in detail. The review identified myocarditis—especially lymphocytic—as an underrecognized but critical cause of sudden death in infants and children. Histological, molecular, and immunohistochemical findings highlighted viral infections, immune dysregulation, and structural anomalies as frequent etiological factors. Several SIDS cases were reclassified as myocarditis upon in-depth examination. These findings underscore the value of standardized autopsy protocols and integrated diagnostic approaches. Advanced postmortem diagnostic techniques, including polymerase chain reaction (PCR) and immunohistochemistry, have enhanced the detection of viral myocarditis. In addition, structural cardiac anomalies, such as cardiomyopathies and coronary abnormalities, may co-exist and contribute to sudden cardiac death. These findings emphasize the need for standardized autopsy protocols and the integration of molecular diagnostics in forensic investigations of SIDS. Further research is essential to improve early detection, refine diagnostic criteria, and develop preventive strategies to reduce the incidence of sudden infant death related to myocarditis. Full article

Background: Effective prevention of SIDS/SUID requires a multidimensional approach. It is essential to provide targeted support for marginalized families, improve access to healthcare services, and implement policies aimed at reducing social and economic inequalities. The parallel effective way to reduce the risk of sudden unexpected infant death is through increased awareness of proper infant care. Despite the guidelines available in many countries, the risk of infant death from non-medical causes is still reported. The aim of the study was to assess awareness regarding an infant’s sleep environment and safe sleep practices among Polish caregivers. Methods: The survey was conducted among 451 mothers of infants under 18 months of age. The survey questionnaire was prepared, which consisted of single- and multiple-choice questions with closed and open answers assessing safe sleep practices. Results: Analysis of the survey responses showed that most mothers in the sample (88.9%) were aware that the supine position is the safest. According to the survey, 74.5% of respondents believed that infants should not sleep in the same bed as parents or siblings. In addition, 78.3% of those women stated that infants should sleep separately in their own bed. Despite this knowledge, almost 37.76% of female respondents still put their infants to sleep in their parents’ bed. As many as 98.4% of respondents knew that any items should not be placed in an infant’s crib. Despite this knowledge, a third of respondents still placed additional items in their baby’s crib. In the study 90.7% of women believed that breastfeeding should begin within the first hour after birth. Conclusions: Knowledge of safe sleep recommendations, including sleep environment, sleep position, and spatial organization, does not always translate into proper caregiving practices. Understanding caregivers’ motivations and how they perceive medical information is critical to effective prevention of infant sleep safety. Full article

This paper investigates the ultimate socioeconomic causes underlying the termination of parental investment in humans by analyzing the relationship between socioeconomic status and various forms of child mortality, including live births, stillbirths, infant deaths, and infanticide. Utilizing theoretical foundations from human behavioral ecology, the study illustrates how different forms of termination of parental investment can be viewed as points along a continuum of adaptive strategies aimed at optimizing reproductive fitness. The research emphasizes that technical and cognitive limitations lead to many instances of infanticide being concealed as natural child deaths, such as Sudden Infant Death Syndrome (SIDS), thus complicating the accurate detection of true causes of death. However, addressing common ultimate causes—specifically socioeconomic factors such as healthcare accessibility, nutritional quality, social support, and stress reduction—can simultaneously prevent or reduce all forms of investment termination. The paper further analyzes demographic data from Zagreb and surrounding municipalities. Ultimately, the study advocates a holistic approach to public health interventions and policies aimed at improving socioeconomic conditions as a crucial step toward reducing all forms of child mortality. Full article

Background: Sudden Infant Death Syndrome (SIDS) remains an important global health concern despite its decline in recent decades. This research assesses the global, regional, and national tendencies in SIDS mortality and DALYs from 1991 to 2021, highlighting the differences across various sociodemographic indexes (SDIs). Methods: Utilizing data from the Global Burden of Disease (GBD) study 2021, SIDS mortality and DALYs were evaluated across different global regions, SDI categories, and age groups. The trends over the study period were determined by conducting estimated annual percentage change (EAPC) analyses. Results: Between 1991 and 2021, the global SIDS mortality rate reduced greatly from 74,782 deaths (58.72 per 100,000 infants) to 30,608 deaths (24.16 per 100,000 infants), showing an EAPC of −3.01%. Similarly, the global DALYs decreased from 6,710,608 to 2,746,174. The biggest decline (EAPC: −5.25%) occurred in the high-SDI regions, whereas the low-SDI regions displayed a minimal decline (EAPC: −2.74%). Infants who were 1–5 months old uniformly had the highest mortality and DALY rates. Gender differences persisted, with larger rates discovered among males. The regional differences remained prominent, with the low-SDI states experiencing a much higher burden. Conclusions: Although there have been remarkable global advancements, great differences in the SIDS burden persist, mainly boosted by socioeconomic unfairness and healthcare access. Improved targeted interventions mitigating these modifiable risks and enhancing healthcare infrastructure in low-SDI regions are the keys to further reducing the global SIDS burden. Full article

Ventilatory drive is modulated by a variety of neurochemical inputs that converge on spatially oriented clusters of cells within the brainstem. This regulation is required to maintain energy homeostasis and is essential to sustain life across all mammalian organisms. Therefore, the anatomical orientation of these cellular clusters during development must have a defined mechanistic basis with redundant genomic variants. Failure to completely develop these features causes several conditions including apnea of prematurity (AOP) and sudden infant death syndrome (SIDS). AOP is associated with many adverse outcomes including increased risk of interventricular hemorrhage. However, there are no pharmacological interventions that reduce SIDS and AOP prevalence by promoting brainstem development. AMP-activated protein kinase (AMPK) is a kinase that regulates ventilatory control to maintain homeostasis. This study identifies a signaling axis in which the pharmacological activation of AMPK in vivo via metformin in brainstem ventilatory control centers results in the phosphorylation of LIM homeobox transcription factor 1-beta (Lmx1b), a key player in dorsal–ventral patterning during fetal development. The phosphorylation of Lmx1b transactivates a neurogenic interactome important for the development and regulation of ventilatory control centers. These findings highlight the potential for metformin in the treatment and prevention of AOP. Full article

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. Full article

Background: Sleep care is crucial for the health and development of infants, with proper sleep patterns reducing the risk of sudden infant death syndrome (SIDS) and other sleep-related incidents. Educational interventions targeting caregivers are essential in promoting safe sleep practices. Methods: This systematic review adhered to PRISMA guidelines, searching databases such as PubMed, MEDLINE, Scopus, and the Cochrane Library. Inclusion criteria focused on studies involving home-based interventions for infants aged 0–12 months, including parental education and behavioral interventions. Exclusion criteria included studies in clinical settings and non-peer-reviewed articles. Data extraction and synthesis were performed by two independent reviewers, using a narrative approach to categorize interventions and outcomes. Results: Twenty-three studies met the inclusion criteria. Key findings indicate that home-based educational interventions, including hospital-based programs, home visits, and mobile health technologies, significantly improve parental knowledge and adherence to safe sleep practices. These interventions also enhance parental satisfaction and contribute positively to infant health outcomes. Conclusions: Educational interventions have demonstrated effectiveness in promoting safe sleep practices among caregivers, particularly in home settings. These interventions, including hospital-based programs, home visits, and digital tools, improve parental knowledge, adherence to guidelines, and overall satisfaction. The impact is evident in the reduction of unsafe sleep behaviors and enhanced infant health outcomes. However, variability in the intervention methods and delivery, cultural contexts, and geographic focus suggest a need for more tailored, long-term, and comprehensive studies. Future research should standardize outcome measures and assess the sustained impact of these educational strategies on infant sleep patterns and caregiver practices over time. This will provide deeper insights into the trends and long-term effectiveness of educational patterns and methods in diverse home environments. Full article

This study aimed to investigate, for the first time, the potential role of the gigantocellular nucleus, a component of the reticular formation, in the pathogenetic mechanism of Sudden Infant Death Syndrome (SIDS), an event frequently ascribed to failure to arouse from sleep. This research was motivated by previous experimental studies demonstrating the gigantocellular nucleus involvement in regulating the sleep–wake cycle. We analyzed the brains of 48 infants who died suddenly within the first 7 months of life, including 28 SIDS cases and 20 controls. All brains underwent a thorough histological and immunohistochemical examination, focusing specifically on the gigantocellular nucleus. This examination aimed to characterize its developmental cytoarchitecture and tyrosine hydroxylase expression, with particular attention to potential associations with SIDS risk factors. In 68% of SIDS cases, but never in controls, we observed hypoplasia of the pontine portion of the gigantocellular nucleus. Alterations in the catecholaminergic system were present in 61% of SIDS cases but only in 10% of controls. A strong correlation was observed between these findings and maternal smoking in SIDS cases when compared with controls. In conclusion we believe that this study sheds new light on the pathogenetic processes underlying SIDS, particularly in cases associated with maternal smoking during pregnancy. Full article