New study finds genetic link to some SIDS cases

A genetic anomaly may be responsible for some cases of Sudden Infant Death Syndrome, which kills more than 3,000 toddlers annually, according to a study released Friday.
Source: Health News - - Category: Consumer Health News Source Type: news

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This report details the proceedings and conclusions from the 3rd International Congress on Unexplained Deaths in Infants and Children, held November 26 –27, 2018 at the Radcliffe Institute at Harvard University. The Congress was motivated by the increasing rejection of the diagnosis Sudden Infant Death Syndrome (SIDS) in the medical examiner community, leading to falsely depressed reported SIDS rates and undermining the validity and reliability o f the diagnosis, which remains a leading cause of infant and child mortality. We describe the diagnostic shift away from SIDS and the practical issues contributing to it. Th...
Source: Forensic Science, Medicine, and Pathology - Category: Forensic Medicine Source Type: research
Publication date: Available online 7 September 2019Source: Preventive MedicineAuthor(s): Giulia Carreras, Alessandra Lugo, Silvano Gallus, Barbara Cortini, Esteve Fernández, Maria José López, Joan B. Soriano, Ángel López Nicolás, Sean Semple, Giuseppe Gorini, Yolanda Castellano, Marcela Fu, Montse Ballbè, Beladenta Amalia, Olena Tigova, Xavier Continente, Teresa Arechavala, Elisabet Henderson, Alessandra Lugo, Xiaoqiu LiuAbstractOur aim was to provide a systematic review of studies on the burden of disease due to second-hand smoke (SHS) exposure, reviewing methods, exposure ...
Source: Preventive Medicine - Category: International Medicine & Public Health Source Type: research
In this study, we aimed to estimate the risk of SIDS in relation to exposure to air pollution and the effects of its modifying factors. A mortality dataset with supplementary infant mortality survey data from Statistics Korea was used and combined the concentration of ambient air pollution data from AirKorea based on the date of death and residential addresses of the SIDS cases. Odds ratios (ORs) were estimated according to birthweight, gestational age, maternal age, and infant age using a time-stratified case-crossover study design. The risk of exposure to particulate matter of less than 10 μm in diameter (PM10), n...
Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
AbstractThis retrospective study aims at helping physicians select babies considered at risk for fatal events during sleep. It does so by describing the clinical features and outcome of worrying infants ’ behaviour during sleep, with the activation of an emergency medical service and/or emergency department, subsequently referred to the Centre for Paediatric Sleep Medicine and sudden infant death syndrome, Regina Margherita Children’s Hospital, Turin, Italy. We analysed the medical records of i nfants
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
ConclusionsThe rare variant V483I in combination with K897 T produces a gain-of-function effect that represents a pathological substrate for atrial fibrillation, syncope and sudden infant death syndrome events in this family. Ascertaining the genotype-phenotype correlation of genetic variants is imperative for the correct assessment of genetic testing and counselling.Translational PerspectiveAccording to the current guidelines for clinical interpretation of sequence variants, functional studies are an essential tool for the ascertainment of variant pathogenicity. They are especially relevant in the context of sudden...
Source: Forensic Science International: Genetics - Category: Forensic Medicine Source Type: research
Publication date: Available online 28 August 2019Source: Molecular and Cellular NeuroscienceAuthor(s): Michael George Zaki Ghali, Sarah BeshayAbstractSeveral studies have investigated the general role of chloride-based neurotransmission (GABAA and glycinergic signaling) in respiratory rhythmogenesis and pattern formation. In several brain regions, developmental alterations in these signaling pathways have been shown to be mediated by changes in cation-chloride cotransporter (CC) expression. For instance, CC expression changes over the neonatal period in medullary respiratory nuclei and other brain/spinal cord regions in a ...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
This report describes the prevalence of SHS exposure among nonsmoking youth in 2013-2016, as defined by serum cotinine, a metabolite of nicotine. PMID: 31442196 [PubMed - in process]
Source: NCHS data brief - Category: American Health Tags: NCHS Data Brief Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31444792 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
i Sekar Sensing properties of chemical sensors based on ternary hydroxyapatite-graphene-multiwalled carbon nanotube (HA-GN-MWCNT) nanocomposite in the detection of chemical substances representing risk factors for sudden infant death syndrome (SIDS), have been evaluated. Characterization data of the synthesized composite have shown that the graphene-MWCNT network serves as a matrix to uniformly disperse the hydroxyapatite nanoparticles and provide suitable electrical properties required for developing novel electrochemical and conductometric sensors. A HA-GN-MWCNT composite-modified glassy carbon electrode (HA-GN-MW...
Source: Sensors - Category: Biotechnology Authors: Tags: Article Source Type: research
Publication date: Available online 29 July 2019Source: Respiratory Physiology &NeurobiologyAuthor(s): Alfredo J. Garcia, Jean Charles Viemari, Maggie A. KhuuAbstractEncountered in a number of clinical conditions, repeated hypoxia/reoxygenation challenges during the neonatal period can pose both a threat to immediate survival as well diminished quality of living later on in life. This review focuses on our current understanding of central respiratory rhythm generation and the role that hypoxia and reoxygenation play in influencing rhythmogenesis. Here, we examine the stereotypical response of the inspiratory rhythm from...
Source: Respiratory Physiology and Neurobiology - Category: Respiratory Medicine Source Type: research
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