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Keywords = sudden infant death syndrome

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20 pages, 3294 KB  
Article
Non-Intrusive Infant Body Position Detection for Sudden Infant Death Syndrome Prevention Using Pressure Mats
by Antonio Garcia-Herraiz, Susana Nunez-Nagy, Luis Cruz-Piris and Bernardo Alarcos
Technologies 2025, 13(10), 427; https://doi.org/10.3390/technologies13100427 - 23 Sep 2025
Viewed by 992
Abstract
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 [...] Read more.
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
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15 pages, 1249 KB  
Review
Effects of Phytocannabinoids on Reproductive System and Prenatal Development: Mechanisms and Clinical Implications
by Michał Wesołowski, Aleksandra Sobaś, Kamil Biedka, Jakub Karwacki, Jakub Bulski, Katarzyna Błaszczyk, Kacper Żełabowski, Oliwia Ziobro, Filip Jacek Maj, Karol Sornat, Agata Estreicher, Anna Klasa, Andrzej Dłubak and Tadeusz Sebzda
J. Clin. Med. 2025, 14(18), 6494; https://doi.org/10.3390/jcm14186494 - 15 Sep 2025
Viewed by 3690
Abstract
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 [...] Read more.
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
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24 pages, 2057 KB  
Review
Drugs, Mother, and Child—An Integrative Review of Substance-Related Obstetric Challenges and Long-Term Offspring Effects
by Atziri Alejandra Jiménez-Fernández, Joceline Alejandra Grajeda-Perez, Sofía de la Paz García-Alcázar, Mariana Gabriela Luis-Díaz, Francisco Javier Granada-Chavez, Emiliano Peña-Durán, Jesus Jonathan García-Galindo and Daniel Osmar Suárez-Rico
Drugs Drug Candidates 2025, 4(3), 40; https://doi.org/10.3390/ddc4030040 - 25 Aug 2025
Viewed by 2422
Abstract
Substance use during pregnancy is an increasingly important yet under-recognized threat to maternal and child health. This narrative review synthesizes the current evidence available on the epidemiology, pathophysiology, clinical management, and policy landscape of prenatal exposure to alcohol, tobacco, opioids, benzodiazepines, cocaine, cannabis, [...] Read more.
Substance use during pregnancy is an increasingly important yet under-recognized threat to maternal and child health. This narrative review synthesizes the current evidence available on the epidemiology, pathophysiology, clinical management, and policy landscape of prenatal exposure to alcohol, tobacco, opioids, benzodiazepines, cocaine, cannabis, methamphetamines, and other synthetic drugs. All major psychoactive substances readily cross the placenta and can remain detectable in breast milk, leading to a shared cascade of obstetric complications (hypertensive disorders, placental abruption, pre-term labor), fetal consequences (growth restriction, structural malformations), and neonatal morbidities such as neonatal abstinence syndrome and sudden infant death. Mechanistically, trans-placental diffusion, oxidative stress, inflammatory signaling, and placental vascular dysfunction converge to disrupt critical neuro- and cardiovascular developmental windows. Early identification hinges on the combined use of validated screening questionnaires (4 P’s Plus, CRAFFT, T-ACE, AUDIT-C, TWEAK) and matrix-specific biomarkers (PEth, EtG, FAEE, CDT), while effective treatment requires integrated obstetric, addiction, and mental health services. Medication for opioid use disorders, particularly buprenorphine, alone or with naloxone, confers superior neonatal outcomes compared to methadone and underscores the value of harm-reducing non-punitive care models. Public-health strategies, such as Mexico’s “first 1 000 days” framework, wrap-around clinics, and home-visiting programs, demonstrate the potential of multisectoral interventions, but are hampered by structural inequities and punitive legislation that deter care-seeking. Research gaps persist in polysubstance exposure, culturally tailored therapies, and long-term neurodevelopmental trajectories. Multigenerational, omics-enabled cohorts, and digital longitudinal-care platforms represent promising avenues for closing these gaps and informing truly preventive perinatal health policies. Full article
(This article belongs to the Section Clinical Research)
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13 pages, 2810 KB  
Article
Sudden Unexpected Infant and Perinatal Death: Pathological Findings of the Cardiac Conduction System
by Giulia Ottaviani, Patrizia Leonardi, Massimo Del Fabbro and Simone G. Ramos
Diagnostics 2025, 15(13), 1637; https://doi.org/10.3390/diagnostics15131637 - 27 Jun 2025
Viewed by 1041
Abstract
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 [...] Read more.
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
(This article belongs to the Special Issue Autopsy for Medical Diagnostics: 3rd Edition)
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25 pages, 766 KB  
Review
A Narrative Overview of Fatal Myocarditis in Infant with Focus on Sudden Unexpected Death and Forensic Implications
by Matteo Antonio Sacco, Saverio Gualtieri, Maria Cristina Verrina, Valerio Riccardo Aquila, Lucia Tarda, Alessandro Pasquale Tarallo and Isabella Aquila
J. Clin. Med. 2025, 14(12), 4340; https://doi.org/10.3390/jcm14124340 - 18 Jun 2025
Viewed by 1720
Abstract
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 [...] Read more.
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
(This article belongs to the Section Clinical Pediatrics)
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11 pages, 222 KB  
Article
Awareness Regarding an Infant’s Sleep Environment and Safe Sleep Practices Among Polish Caregivers: A Cross-Sectional Survey
by Agata Michalska, Anna Zmyślna, Justyna Pogorzelska, Marta Mierzwa-Molenda, Justyna Mazur, Aleksandra Gładyś-Jakubczyk and Marek Żak
J. Clin. Med. 2025, 14(12), 4295; https://doi.org/10.3390/jcm14124295 - 17 Jun 2025
Viewed by 1726
Abstract
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 [...] Read more.
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 article belongs to the Section Clinical Pediatrics)
17 pages, 667 KB  
Review
Ultimate Context of the Termination of Parental Investment
by Josip Hrgović
Int. J. Environ. Res. Public Health 2025, 22(6), 944; https://doi.org/10.3390/ijerph22060944 - 16 Jun 2025
Viewed by 902
Abstract
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, [...] Read more.
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
(This article belongs to the Special Issue Human Behavioral Ecology and Health Outcomes)
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18 pages, 8380 KB  
Article
Sudden Infant Death Syndrome Mortality Trends and Socioeconomic Inequalities Worldwide: Evidence from the Global Burden of Disease Study
by Ze Tang, Ziwei Wang and Xinbao Wang
Children 2025, 12(6), 747; https://doi.org/10.3390/children12060747 - 9 Jun 2025
Cited by 1 | Viewed by 5325
Abstract
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 [...] Read more.
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
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11 pages, 210 KB  
Article
A Randomized Crossover Trial to Evaluate the Effect of Positioning on Obstructive Sleep Apnea in Infants with Robin Sequence
by Cornelia Wiechers, Simon Goetz, Karen Kreutzer, Christina Weismann, Jessica LeClair, Glen McGee, Christian F. Poets and Mirja Quante
Children 2025, 12(3), 389; https://doi.org/10.3390/children12030389 - 20 Mar 2025
Cited by 3 | Viewed by 1833
Abstract
Background: The prone position is one of the most frequently used treatment options for infants with Robin sequence (RS), but its effect and its safety regarding the increased risk of sudden infant death syndrome are controversial. Methods: In a prospective randomized crossover study, [...] Read more.
Background: The prone position is one of the most frequently used treatment options for infants with Robin sequence (RS), but its effect and its safety regarding the increased risk of sudden infant death syndrome are controversial. Methods: In a prospective randomized crossover study, we investigated the effects of the prone versus supine position on obstructive sleep apnea (OSA) using polygraphy. Infants with RS admitted to the University Hospital Tuebingen between 4/2021 and 5/2023 were analyzed for their obstructive apnea index (OAI), oxygen desaturation index < 80%, minimum and basal oxygen saturation, basal and highest transcutaneous carbon dioxide level, and respiratory and heart rate in both sleep positions. Results: A total of 29 children were analyzed. A total of 21/29 children were measured in both positions, while 6/29 children were only measured in the supine position and 2/29 only in the prone position. We found no significant difference in the OAI for the supine versus prone position in main effects analyses. In unadjusted linear model analysis, infants in the supine position had an OAI of 9.9 (95% CI, −2.4, 22.3) events/h higher than those in the prone position. A total of 13/21 infants benefitted from the prone position, whilst 8/21 had a worsening of their OSA. We found no evidence of a significant interaction between sleeping position and syndromic status. Conclusions: Prone positioning improves, but does not eliminate, OSA symptoms in infants with RS, and severe OSA may often persist. There are infants in whom a change to the prone position leads to a worsening of their OSA. Full article
(This article belongs to the Section Pediatric Pulmonary and Sleep Medicine)
17 pages, 270 KB  
Article
Prenatal Risk Factors for Brief Resolved Unexplained Events in Infants
by Luana Nosetti, Marco Zaffanello, Eliot S. Katz, Elisa Morrone, Michele Abramo, Francesca Brambilla, Antonella Cromi, Giorgio Piacentini and Massimo Agosti
Pediatr. Rep. 2025, 17(1), 16; https://doi.org/10.3390/pediatric17010016 - 6 Feb 2025
Viewed by 1783
Abstract
Background: Prenatal factors have been implicated in the likelihood of reporting sleep disorders in infants. The influence of prenatal and pregnancy-related factors on the incidence of brief resolved unexplained events (BRUEs) in infants has not been established. Objectives: This study aims to evaluate [...] Read more.
Background: Prenatal factors have been implicated in the likelihood of reporting sleep disorders in infants. The influence of prenatal and pregnancy-related factors on the incidence of brief resolved unexplained events (BRUEs) in infants has not been established. Objectives: This study aims to evaluate the prenatal and pregnancy-related factors that may contribute to the development of BRUEs in infants. Methods: A single-center, observational, and cross-sectional cohort study was conducted on mothers of children presenting to the Pediatric Clinic of the University of Insubria’s Center for the Study of Respiratory Sleep Disorders with BRUEs as infants. The mothers of typically developing children were enrolled as a control group consecutively at their respective outpatient clinics. All mothers were administered comprehensive questionnaires including demographics, past medical histories, and pregnancy-related issues (weight gain, Berlin sleep-disordered breathing score, and insomnia severity index), psychological symptoms, medical history, illnesses, and medications. Results: Infants with BRUEs were delivered at an earlier gestational age. Mothers of infants with BRUEs were more likely to snore during pregnancy and have lower extremity edema during the first trimester, uterine contractions and restless legs syndrome symptoms during the second trimester, and muscle aches and aspirin usage during the third trimester. The insomnia severity index composite score was not different between the control and BRUE groups. Mothers of infants with BRUEs were less likely to report leg cramps, pregnancy-related diarrhea, fatigue, and gastroesophageal reflux. Conclusions: Mothers of infants presenting with BRUEs had more symptoms during pregnancy of snoring and uterine contractions but not insomnia and were less likely to report leg cramps, pregnancy-related diarrhea, fatigue, and gastroesophageal reflux. The reporting of this study conforms with the STROBE statement. Full article
16 pages, 5572 KB  
Article
AMPK Phosphorylates LMX1b to Regulate a Brainstem Neurogenic Network Important for Control of Breathing in Neonatal Mice
by Traci L. Marin, Christopher G. Wilson, Miguel Lopez Ramirez, Wei Sun, Atul Malhotra and Brendan Gongol
Int. J. Mol. Sci. 2025, 26(1), 213; https://doi.org/10.3390/ijms26010213 - 30 Dec 2024
Viewed by 1403
Abstract
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 [...] Read more.
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
(This article belongs to the Special Issue Neuroinflammation Toxicity and Neuroprotection 2.0)
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12 pages, 1476 KB  
Article
Genetic Association Study of Acetylcholinesterase (ACHE) and Butyrylcholinesterase (BCHE) Variants in Sudden Infant Death Syndrome (SIDS)
by Dong Qu, Peter Schürmann, Thomas Rothämel, Thilo Dörk and Michael Klintschar
Genes 2024, 15(12), 1656; https://doi.org/10.3390/genes15121656 - 23 Dec 2024
Viewed by 1809
Abstract
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 [...] Read more.
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
(This article belongs to the Section Molecular Genetics and Genomics)
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27 pages, 803 KB  
Systematic Review
Evaluating Educational Patterns and Methods in Infant Sleep Care: Trends, Effectiveness, and Impact in Home Settings—A Systematic Review
by Maria Aggelou, Dimitra Metallinou, Maria Dagla, Victoria Vivilaki and Antigoni Sarantaki
Children 2024, 11(11), 1337; https://doi.org/10.3390/children11111337 - 31 Oct 2024
Cited by 2 | Viewed by 7249
Abstract
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 [...] Read more.
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
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11 pages, 1237 KB  
Article
New Step in Understanding the Pathogenetic Mechanism of Sudden Infant Death Syndrome: Involvement of the Pontine Reticular Gigantocellular Nucleus
by Anna Maria Lavezzi, Riffat Mehboob, Francesco Piscioli and Teresa Pusiol
Int. J. Mol. Sci. 2024, 25(13), 6920; https://doi.org/10.3390/ijms25136920 - 25 Jun 2024
Cited by 1 | Viewed by 1755
Abstract
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 [...] Read more.
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
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16 pages, 547 KB  
Article
Early Screening for Long QT Syndrome and Cardiac Anomalies in Infants: A Comprehensive Study
by Luana Nosetti, Marco Zaffanello, Carolina Lombardi, Alessandra Gerosa, Giorgio Piacentini, Michele Abramo and Massimo Agosti
Clin. Pract. 2024, 14(3), 1038-1053; https://doi.org/10.3390/clinpract14030082 - 31 May 2024
Cited by 5 | Viewed by 2621
Abstract
(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all [...] Read more.
(1) Background: Sudden Infant Death Syndrome (SIDS) represents sudden and unexplained deaths during the sleep of infants under one year of age, despite thorough investigation. Screening for a prolonged QTc interval, a marker for Long QT Syndrome (LQTS), should be conducted on all newborns to reduce the incidence of SIDS. Neonatal electrocardiograms (ECGs) could identify congenital heart defects (CHDs) early, especially those not detected at birth. Infants with prolonged QTc intervals typically undergo genetic analysis for Long QT Syndrome. (2) Methods: The study involved infants aged 20–40 days, born with no apparent clinical signs of heart disease, with initial ECG screening. Infants with prenatal diagnoses or signs/symptoms of CHDs identified immediately after birth, as well as infants who had previously had an ECG or echocardiogram for other medical reasons, were excluded from the study. We used statistical software (SPSS version 22.0) to analyze the data. (3) Results: Of the 42,200 infants involved, 2245 were enrolled, with 39.9% being males. Following this initial screening, 164 children (37.8% males) with prolonged QTc intervals underwent further evaluation. Out of these 164 children, 27 children were confirmed to have LQTS. However, only 18 children were finally investigated for genetic mutations, and mutations were identified in 11 tests. The most common mutations were LQT1 (54.5%), LQT2 (36.4%), and LQT3 (1 patient). Treatment options included propranolol (39.8%), nadolol (22.2%), inderal (11.1%), metoprolol (11.1%), and no treatment (16.7%). The most common abnormalities were focal right bundle branch block (54.5%), left axis deviation (9.2%), and nonspecific ventricular repolarization abnormalities (7.1%). Multiple anomalies were found in 0.47% of children with focal right bundle branch block. Structural abnormalities were associated with specific features in 267 patients (11.9%), primarily isolated patent foramen ovale (PFO) at 61.4%. (4) Conclusions: This screening approach has demonstrated effectiveness in the early identification of LQTS and other cardiac rhythm anomalies, with additional identification of mutations and/or prolonged QTc intervals in family members. Identifying other ECG abnormalities and congenital heart malformations further enhances the benefits of the screening. Full article
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