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Sudden infant death syndrome

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https://www.readbyqxmd.com/read/29759045/neuropathological-developments-in-sudden-infant-death-syndrome
#1
Fiona M Bright, Robert Vink, Roger W Byard
A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29752375/functional-invalidation-of-putative-sudden-infant-death-syndrome-associated-variants-in-the-kcnh2-encoded-kv11-1-channel
#2
Jennifer L Smith, David J Tester, Allison R Hall, Don E Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L Anderson, Craig T January, Jonathan Z Luo, Dustin N Hartzel, Uyenlinh L Mirshahi, Michael F Murray, Tooraj Mirshahi, Michael J Ackerman, Brian P Delisle
BACKGROUND: Heterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous KCNH2 variants seemingly associated with sudden infant death syndrome. METHODS: Genetic testing of 292 sudden infant death syndrome cases identified 9 KCNH2 variants: E90K, R181Q, A190T, G294V, R791W, P967L, R1005W, R1047L, and Q1068R...
May 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29751357/lower-birth-weights-shorter-breastfeeding-and-lack-of-primary-healthcare-contributed-to-higher-pacifier-use-in-a-birth-cohort
#3
R F M Martins, A A S J Lima, C C C Ribeiro, C M C Alves, A A M da Silva, E B A F Thomaz
Pacifier use has been associated with sociodemographic factors, working mothers, girls, less breastfeeding (1-3) and a lower risk of sudden infant death syndrome (4). However, studies have not considered some important perinatal health factors, such as low birth weight, preterm birth and healthcare factors. Pacifiers have been used to stimulate oral functions in low birth weight and preterm birth infants, but the evidence has been inconclusive (5). This article is protected by copyright. All rights reserved...
May 11, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29745329/building-bridges-between-clinical-and-forensic-toxicology-laboratories
#4
Bernardino Barcelo Martin, Isabel Gomila, Valeria Noce
BACKGROUND: Clinical and forensic toxicology can be defined as the two disciplines involved the detection, identification and measurement of xenobiotics in biological and non-biological specimens to help in the diagnosis, treatment, prognosis, prevention of poisonings and to disclose causes and contributory causes of fatal intoxications, respectively. OBJECTIVE: This article explores the close connections between clinical and forensic toxicology in overlapping areas of interest...
May 9, 2018: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/29742297/advances-in-cellular-and-integrative-control-of-oxygen-homeostasis-within-the-central-nervous-system
#5
Jan-Marino Ramirez, Liza Severs, Sanja C Ramirez, Ibis M Agosto-Marlin
Mammals must continuously regulate the levels of O2 and CO2 , which is particularly important for the brain. Failure to maintain adequate O2 /CO2 homeostasis has been associated with numerous disorders including sleep apnea, Rett syndrome, and sudden infant death syndrome (SIDS). But, O2 /CO2 homeostasis poses major regulatory challenges, even in the healthy brain. Neuronal activities change in a differentiated, spatially and temporally complex manner, which is reflected in equally complex changes in O2 demand...
May 9, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29720407/diagnostic-potential-of-stored-dried-blood-spots-for-inborn-errors-of-metabolism-a-metabolic-autopsy-of-medium-chain-acyl-coa-dehydrogenase-deficiency
#6
Noriyuki Kaku, Kenji Ihara, Yuichiro Hirata, Kenji Yamada, Sooyoung Lee, Hikaru Kanemasa, Yoshitomo Motomura, Haruhisa Baba, Tamami Tanaka, Yasunari Sakai, Yoshihiko Maehara, Shouichi Ohga
AIM: It is estimated that 1-5% of sudden infant death syndrome (SIDS) cases might be caused by undiagnosed inborn errors of metabolism (IEMs); however, the postmortem identification of IEMs remains difficult. This study aimed to evaluate the usefulness of dried blood spots (DBSs) stored after newborn screening tests as a metabolic autopsy to determine the causes of death in infants and children who died suddenly and unexpectedly. METHODS: Infants or toddlers who had suddenly died without a definite diagnosis between July 2008 and December 2012 at Kyushu University Hospital in Japan were enrolled in this study...
May 2, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29712764/the-grief-of-mothers-after-the-sudden-unexpected-death-of-their-infants
#7
Richard D Goldstein, Ruth I Lederman, Wendy G Lichtenthal, Sue E Morris, Melanie Human, Amy J Elliott, Deb Tobacco, Jyoti Angal, Hein Odendaal, Hannah C Kinney, Holly G Prigerson
: media-1vid110.1542/5741323271001PEDS-VA_2017-3651 Video Abstract BACKGROUND: The loss of a child is associated with elevated grief severity, and sudden infant death syndrome (SIDS) is the leading cause of postneonatal mortality in the United States. The diagnosis of prolonged grief disorder (PGD) has gained broader acceptance and use. Little is known about PGD in mothers after SIDS. METHODS: Between May 2013 and July 2016, we assessed 49 SIDS-bereaved mothers living in informal settlements near Cape Town, South Africa, and on the Pine Ridge Indian Reservation and 359 SIDS-bereaved mothers affiliated with SIDS parent-support organizations in the United States, United Kingdom, Australia, New Zealand, and the Netherlands...
April 30, 2018: Pediatrics
https://www.readbyqxmd.com/read/29707639/neuronal-noise-as-an-origin-of-sleep-arousals-and-its-role-in-sudden-infant-death-syndrome
#8
Hila Dvir, Idan Elbaz, Shlomo Havlin, Lior Appelbaum, Plamen Ch Ivanov, Ronny P Bartsch
In addition to regular sleep/wake cycles, humans and animals exhibit brief arousals from sleep. Although much is known about consolidated sleep and wakefulness, the mechanism that triggers arousals remains enigmatic. Here, we argue that arousals are caused by the intrinsic neuronal noise of wake-promoting neurons. We propose a model that simulates the superposition of the noise from a group of neurons, and show that, occasionally, the superposed noise exceeds the excitability threshold and provokes an arousal...
April 2018: Science Advances
https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#9
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29645275/central-and-peripheral-chemoreceptors-in-sudden-infant-death-syndrome
#10
Andrea Porzionato, Veronica Macchi, Raffaele De Caro
The pathogenesis of Sudden Infant Death Syndrome (SIDS) has been ascribed to an underlying biological vulnerability to stressors during a critical period of development. This paper reviews the main data in the literature supporting the role of central (e.g. retrotrapezoid nucleus, serotoninergic raphe nuclei, locus coeruleus, orexinergic neurons, ventral medullary surface, solitary tract nucleus) and peripheral (e.g. carotid body) chemoreceptors in the pathogenesis of SIDS. Clinical and experimental studies indicate that central and peripheral chemoreceptors undergo critical development during the initial postnatal period, consistent with the age range of SIDS (< 1 year)...
April 12, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29617167/sudden-infant-death-syndrome-a-global-public-health-issue-and-nursing-s-response
#11
Kelly Pretorius, Lynn Rew
Sudden unexplained death in infancy, including sudden infant death syndrome (SIDS), is a global public health challenge. Despite public health campaigns and efforts, SIDS remains the leading cause of postneonatal mortality in many developed countries. In this article, we review SIDS, describe nursing's unique professional position in addressing this problem, and explore how the principles of social justice can inform nursing's response. Motivated by nursing's ethical and moral obligations, the profession is called to take an active role in educating others regarding this phenomenon, to participate in research, and to develop or advocate for policy that aims to reduce the incidence of SIDS on an international scale...
April 4, 2018: Comprehensive Child and Adolescent Nursing
https://www.readbyqxmd.com/read/29606014/analysis-of-sudden-infant-death-syndrome-coverage-in-canadian-newspapers
#12
Sadia Ahmed, Ian Mitchell, Gregor Wolbring
Sudden infant death syndrome (SIDS; also known as crib death) describes the sudden unexpected death of an infant under one year of age, which remains unexplained after a thorough investigation. SIDS is a public health concern. It is the fourth leading cause of infant death in Canada. Newspapers are a major source of health information for the public, shape public perceptions and can direct the discussion around issues. Despite the potential influence of newspapers, no study has examined the portrayal of SIDS in Canadian newspapers over time...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#13
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29605428/skeletal-muscle-channelopathy-a-new-risk-for-sudden-infant-death-syndrome
#14
Stephen C Cannon
No abstract text is available yet for this article.
March 28, 2018: Lancet
https://www.readbyqxmd.com/read/29601086/scn1a-variants-associated-with-sudden-infant-death-syndrome
#15
Catherine A Brownstein, Richard D Goldstein, Christopher H Thompson, Robin L Haynes, Emma Giles, Beth Sheidley, Matthew Bainbridge, Elisabeth A Haas, Othon J Mena, Jonathan Lucas, Bethann Schaber, Ingrid A Holm, Alfred L George, Hannah C Kinney, Annapurna H Poduri
We identified SCN1A variants in 2 infants who died of sudden infant death syndrome (SIDS) with hippocampal abnormalities from an exome sequencing study of 10 cases of SIDS but no history of seizures. One harbored SCN1A G682V, and the other had 2 SCN1A variants in cis: L1296M and E1308D, a variant previously associated with epilepsy. Functional evaluation in a heterologous expression system demonstrated partial loss of function for both G682V and the compound variant L1296M/E1308D. Our cases represent a novel association between SCN1A and SIDS, extending the SCN1A spectrum from epilepsy to SIDS...
April 2018: Epilepsia
https://www.readbyqxmd.com/read/29572929/multiple-genetic-variations-in-sodium-channel-subunits-in-a-case-of-sudden-infant-death-syndrome
#16
Federico Denti, Bo Hjorth Bentzen, Julianne Wojciak, Nancy Mutsaers Thomsen, Melvin Scheinman, Nicole Schmitt
BACKGROUND: Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in HEK293 cells...
March 23, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29558463/causes-of-death-and-infant-mortality-rates-among-full-term-births-in-the-united-states-between-2010-and-2012-an-observational-study
#17
Neha Bairoliya, Günther Fink
BACKGROUND: While the high prevalence of preterm births and its impact on infant mortality in the US have been widely acknowledged, recent data suggest that even full-term births in the US face substantially higher mortality risks compared to European countries with low infant mortality rates. In this paper, we use the most recent birth records in the US to more closely analyze the primary causes underlying mortality rates among full-term births. METHODS AND FINDINGS: Linked birth and death records for the period 2010-2012 were used to identify the state- and cause-specific burden of infant mortality among full-term infants (born at 37-42 weeks of gestation)...
March 2018: PLoS Medicine
https://www.readbyqxmd.com/read/29544606/sudden-infant-death-syndrome-and-genetics-don-t-throw-out-the-infant-with-the-dirty-water
#18
EDITORIAL
Peter J Schwartz, Maria-Christina Kotta
No abstract text is available yet for this article.
March 20, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29544605/cardiac-genetic-predisposition-in-sudden-infant-death-syndrome
#19
David J Tester, Leonie C H Wong, Pritha Chanana, Amie Jaye, Jared M Evans, David R FitzPatrick, Margaret J Evans, Peter Fleming, Iona Jeffrey, Marta C Cohen, Jacob Tfelt-Hansen, Michael A Simpson, Elijah R Behr, Michael J Ackerman
BACKGROUND: Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. OBJECTIVES: This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. METHODS: A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes...
March 20, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29538785/sudden-infant-death-syndrome-a-review
#20
Neal Goldberg, Yahdira Rodriguez-Prado, Rebecca Tillery, Caroline Chua
Sudden infant death syndrome (SIDS) is the sudden unexpected death of an apparently healthy infant younger than age 12 months whose cause of death remains unknown despite a thorough death scene investigation, a review of the clinical history, and an autopsy. Despite the huge achievement of the Back to Sleep program, SIDS remains one of the leading causes of infant death in the United States. In recent years, the SIDS rate has remained stationary despite major public health efforts aimed at high-risk groups to improve sleep environment and strategies...
March 1, 2018: Pediatric Annals
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