Science.gov

Sample records for death syndrome childhood

  1. Precisely Tracking Childhood Death.

    PubMed

    Farag, Tamer H; Koplan, Jeffrey P; Breiman, Robert F; Madhi, Shabir A; Heaton, Penny M; Mundel, Trevor; Ordi, Jaume; Bassat, Quique; Menendez, Clara; Dowell, Scott F

    2017-07-01

    Little is known about the specific causes of neonatal and under-five childhood death in high-mortality geographic regions due to a lack of primary data and dependence on inaccurate tools, such as verbal autopsy. To meet the ambitious new Sustainable Development Goal 3.2 to eliminate preventable child mortality in every country, better approaches are needed to precisely determine specific causes of death so that prevention and treatment interventions can be strengthened and focused. Minimally invasive tissue sampling (MITS) is a technique that uses needle-based postmortem sampling, followed by advanced histopathology and microbiology to definitely determine cause of death. The Bill & Melinda Gates Foundation is supporting a new surveillance system called the Child Health and Mortality Prevention Surveillance network, which will determine cause of death using MITS in combination with other information, and yield cause-specific population-based mortality rates, eventually in up to 12-15 sites in sub-Saharan Africa and south Asia. However, the Gates Foundation funding alone is not enough. We call on governments, other funders, and international stakeholders to expand the use of pathology-based cause of death determination to provide the information needed to end preventable childhood mortality.

  2. Precisely Tracking Childhood Death

    PubMed Central

    Farag, Tamer H.; Koplan, Jeffrey P.; Breiman, Robert F.; Madhi, Shabir A.; Heaton, Penny M.; Mundel, Trevor; Ordi, Jaume; Bassat, Quique; Menendez, Clara; Dowell, Scott F.

    2017-01-01

    Abstract. Little is known about the specific causes of neonatal and under-five childhood death in high-mortality geographic regions due to a lack of primary data and dependence on inaccurate tools, such as verbal autopsy. To meet the ambitious new Sustainable Development Goal 3.2 to eliminate preventable child mortality in every country, better approaches are needed to precisely determine specific causes of death so that prevention and treatment interventions can be strengthened and focused. Minimally invasive tissue sampling (MITS) is a technique that uses needle-based postmortem sampling, followed by advanced histopathology and microbiology to definitely determine cause of death. The Bill & Melinda Gates Foundation is supporting a new surveillance system called the Child Health and Mortality Prevention Surveillance network, which will determine cause of death using MITS in combination with other information, and yield cause-specific population-based mortality rates, eventually in up to 12–15 sites in sub-Saharan Africa and south Asia. However, the Gates Foundation funding alone is not enough. We call on governments, other funders, and international stakeholders to expand the use of pathology-based cause of death determination to provide the information needed to end preventable childhood mortality. PMID:28719334

  3. Childhood Deaths from Physical Abuse.

    ERIC Educational Resources Information Center

    Kasim, Mohd. Sham; and Others

    1995-01-01

    This paper describes 30 cases of childhood deaths caused by physical abuse in Kuala Lumpur, Malaysia. Data presented include ethnic origins, age, causes of death, identity of perpetrators, and marital situation of parents. (DB)

  4. Periodic syndromes of childhood.

    PubMed

    Arav-Boger, R; Spirer, Z

    1997-01-01

    Periodic syndromes of childhood comprise a large group of disorders that require long-term follow-up to be diagnosed. Several disorders have fixed rhythmicity and are therefore identified more easily. Other disorders are usually diagnosed after a prolonged follow-up and exclusion of other more common childhood diseases. In general, most of the periodic fever syndromes have a benign prognosis, and their symptomatology tends to improve in the long term. Periodic syndromes without fever or chronic pain syndromes constitute not only a diagnostic dilemma but also a therapeutic challenge. A general diagnostic approach to the periodic syndromes is outlined in Figure 1.

  5. Characterizing sudden death and dead-in-bed syndrome in Type 1 diabetes: analysis from two childhood-onset Type 1 diabetes registries.

    PubMed

    Secrest, A M; Becker, D J; Kelsey, S F; Laporte, R E; Orchard, T J

    2011-03-01

    Type 1 diabetes mellitus increases the risk for sudden unexplained death, generating concern that diabetes processes and/or treatments underlie these deaths. Young (< 50 years) and otherwise healthy patients who are found dead in bed have been classified as experiencing 'dead-in-bed' syndrome. We thus identified all unwitnessed deaths in two related registries (the Children's Hospital of Pittsburgh and Allegheny County) yielding 1319 persons with childhood-onset (age < 18 years) Type 1 diabetes diagnosed between 1965 and 1979. Cause of death was determined by a Mortality Classification Committee (MCC) of at least two physician epidemiologists, based on the death certificate and additional records surrounding the death. Of the 329 participants who had died, the Mortality Classification Committee has so far reviewed and assigned a final cause of death to 255 (78%). Nineteen (8%) of these were sudden unexplained deaths (13 male) and seven met dead-in-bed criteria. The Mortality Classification Committee adjudicated cause of death in the seven dead-in-bed persons as: diabetic coma (n =4), unknown (n=2) and cardiomyopathy (n=1, found on autopsy). The three dead-in-bed individuals who participated in a clinical study had higher HbA(1c) , lower BMI and higher daily insulin dose compared with both those dying from other causes and those surviving. Sudden unexplained death in Type 1 diabetes seems to be increased 10-fold and associated with male sex, while dead-in-bed individuals have a high HbA(1c) and insulin dose and low BMI. Although sample size is too small for definitive conclusions, these results suggest specific sex and metabolic factors predispose to sudden unexplained death and dead-in-bed death. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.

  6. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  7. Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Barnett, Henry L.; And Others

    There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…

  8. Characterising sudden death and dead-in-bed syndrome in Type 1 diabetes: Analysis from 2 childhood-onset Type 1 diabetes registries

    PubMed Central

    Secrest, A. M.; Becker, D. J.; Kelsey, S. F.; LaPorte, R. E.; Orchard, T. J.

    2011-01-01

    Aims Type 1 diabetes mellitus increases the risk for sudden unexplained death (SUD), generating concern that diabetes processes and/or treatments underlie these deaths. Young (<50 yrs) and otherwise healthy patients who are found dead in bed have been classified as experiencing “dead in bed” (DIB) syndrome. Methods We thus identified all un-witnessed deaths in two related registries (Children’s Hospital of Pittsburgh and Allegheny County) yielding 1,319 persons with childhood-onset (age<18 yrs) Type 1 DM diagnosed between 1965 and 1979. Cause of death was determined by a mortality classification committee (MCC) of at least 2 physician epidemiologists, based on the death certificate and additional records surrounding the death. Results Of the 329 participants who had died, the MCC has so far reviewed and assigned a final cause of death to 255 (78%). Nineteen (8%) of these were SUDs (13 male), and 7 met DIB criteria. The MCC adjudicated cause of death in the 7 DIB persons as: diabetic coma (n=4), unknown (n=2), and cardiomyopathy (n=1, found on autopsy). The 3 DIB individuals who participated in a clinical study had higher HbA1c, lower BMI, and higher daily insulin dose compared to both those dying from other causes and those surviving. Conclusions SUD in Type 1 DM seems to be increased 10-fold and associated with male sex, while DIB individuals have a high HbA1c and insulin dose, and low BMI. Though sample size is too small for definitive conclusions, these results suggest specific sex and metabolic factors predispose to SUD and DIB. PMID:21309837

  9. Sudden infant death syndrome, sleep, and seizures.

    PubMed

    Hoppenbrouwers, Toke

    2015-06-01

    benign febrile seizures seen in 7% of infants before 6 months play a role in the terminal pathway in a subset of sudden infant death syndrome victims. Supporting evidence: (1) lack of 5-hydroxitryptamine, one consistent finding in sudden infant death syndrome that Kinney et al coined a developmental serotonopathy, is consistent with risk for seizures. (2) Non-rapid eye movement sleep increasing during the age of highest risk for sudden infant death syndrome facilitates some seizures (seizure gate). (3) Sudden unexpected death in epilepsy is associated with severe hypoxemia and hypercapnia during postictal generalized electroencephalographic (EEG) suppression. In toddlers, sudden unexplained deaths are associated with hippocampal abnormalities and some seizures. (4) The sudden nature of both deaths warrants an exploration of similarities in the terminal pathway. Moreover, sudden infant death syndrome, febrile seizures, sudden unexplained death in childhood, and sudden unexpected death in epilepsy share some of the following risk factors: prone sleeping, infections, hyperthermia, preterm birth, male gender, maternal smoking, and mutations in genes that regulate sodium channels. State-of-the-art molecular studies can be exploited to test this hypothesis. © The Author(s) 2014.

  10. [Childhood periodic syndromes].

    PubMed

    Cuvellier, J-C; Lépine, A

    2010-01-01

    This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis

  11. Sudden infant death syndrome.

    PubMed

    Moon, Rachel Y; Horne, Rosemary S C; Hauck, Fern R

    2007-11-03

    Despite declines in prevalence during the past two decades, sudden infant death syndrome (SIDS) continues to be the leading cause of death for infants aged between 1 month and 1 year in developed countries. Behavioural risk factors identified in epidemiological studies include prone and side positions for infant sleep, smoke exposure, soft bedding and sleep surfaces, and overheating. Evidence also suggests that pacifier use at sleep time and room sharing without bed sharing are associated with decreased risk of SIDS. Although the cause of SIDS is unknown, immature cardiorespiratory autonomic control and failure of arousal responsiveness from sleep are important factors. Gene polymorphisms relating to serotonin transport and autonomic nervous system development might make affected infants more vulnerable to SIDS. Campaigns for risk reduction have helped to reduce SIDS incidence by 50-90%. However, to reduce the incidence even further, greater strides must be made in reducing prenatal smoke exposure and implementing other recommended infant care practices. Continued research is needed to identify the pathophysiological basis of SIDS.

  12. Sudden infant death syndrome

    PubMed Central

    Hunt, Carl E.; Hauck, Fern R.

    2006-01-01

    Sudden infant death syndrome (SIDS) continues to be the most common cause of postneonatal infant death. SIDS is a complex, multifactorial disorder, the cause of which is still not fully understood. However, much is known now about environmental risk factors, some of which are modifiable. These include maternal and antenatal risk factors such as smoking during pregnancy, as well as infant-related risk factors such as non-supine sleeping position and soft bedding. Emerging evidence also substantiates an expanding number of genetic risk factors. Interactions between environmental and genetic risk factors may be of critical importance in determining an infant's actual risk of SIDS. Although no practical way exists to identify which infants will die of SIDS, nor is there a safe and proven prevention strategy even if identification were feasible, reducing exposure to modifiable risk factors has helped to lower the incidence of SIDS. Current challenges include wider dissemination of guidelines to all people who care for infants, dissemination of guidelines in culturally appropriate ways, and surveillance of SIDS trends and other outcomes associated with implementation of these guidelines. PMID:16785462

  13. Sudden infant death syndrome.

    PubMed

    Adams, Stephen M; Ward, Chad E; Garcia, Karla L

    2015-06-01

    Sudden infant death syndrome (SIDS) is the sudden unexpected death of a child younger than one year during sleep that cannot be explained after a postmortem evaluation including autopsy, a thorough history, and scene evaluation. The incidence of SIDS has decreased more than 50% in the past 20 years, largely as a result of the Back to Sleep campaign. The most important risk factors relate to the sleep environment. Prone and side sleeping positions are significantly more dangerous than the supine position. Bed sharing with a parent is strongly correlated with an increased risk of SIDS, especially in infants younger than 12 weeks. Apparent life-threatening events are not a risk factor for SIDS. Parents should place infants on their backs to sleep, should not share a bed, and should avoid exposing the infant to tobacco smoke. Other risk-reducing measures include using a firm crib mattress, breastfeeding, keeping vaccinations up to date, avoiding overheating due to overbundling, avoiding soft bedding, and considering the use of a pacifier during sleep once breastfeeding is established. One consequence of the Back to Sleep campaign is a significant increase in the incidence of occipital flattening. Infants who develop a flat spot should be placed with the head facing alternating directions each time he or she is put to bed. Supervised prone positioning while the infant is awake, avoiding excessive use of carriers, and upright positioning while awake are also recommended.

  14. [Childhood chronic fatigue syndrome].

    PubMed

    Miike, Teruhisa

    2007-06-01

    Chronic fatigue syndrome in childhood and adolescents(CCFS) is a complex and debilitation with severe morbidity and confusion. It is common condition with up to 3-5% of children and adolescents showing strange fatigue and confusion for more than 30 days. In this condition, four major symptoms are important: sleep disorders, easy fatigability, disturbed learning and memorization and immunological problems. Routine laboratory studies are similar to adult CFS, although abnormalities can be seen on serum pyruvic acid level, OGTT pattern, deep body temperature rhythm, hormonal secretion rhythm, and cerebral blood flow. For a diagnosis of CCFS, a research group supported by Japanese ministry of health, labor and welfare developed CCFS case definition on 2004. Treatment focused to correct disrupted circadian rhythms and supply of energy.

  15. Sudden death in Marfan syndrome.

    PubMed

    Hugar, Basappa S; Praveen, Shivaramareddy; Kainoor, Sunil K; Shetty, Akshith Raj S

    2014-07-01

    Marfan syndrome is an autosomal dominant genetic disorder of the connective tissue. The most serious complications of this syndrome are defects of the heart valves and aorta. Aneurysms of thoracic aorta are known to develop in Marfan syndrome. Other causes for development of aneurysms of the thoracic aorta are trauma, infections, valve and arch anomalies, genetic disorders, and atherosclerosis. These aneurysms upon rupture may lead to sudden deaths. They are usually detected during routine screening or follow-up of such persons suffering from Marfan syndrome and upon death will be certified by the treating physician. Thus, an autopsy surgeon rarely comes across such deaths. One such case of sudden death due to cardiac tamponade consequent upon rupture of dissecting aortic aneurysm in a 33-year-old male who complained of throbbing pains in the chest, radiating to back, became breathless, cyanotic and died on the way to hospital is being presented here.

  16. Sudden Unexpected Death in Fetal Life Through Early Childhood

    PubMed Central

    Kinney, Hannah C.; Willinger, Marian

    2016-01-01

    In March 2015, the Eunice Kennedy Shriver National Institute of Child Health and Human Development held a workshop entitled “Sudden Unexpected Death in Fetal Life Through Early Childhood: New Opportunities.” Its objective was to advance efforts to understand and ultimately prevent sudden deaths in early life, by considering their pathogenesis as a potential continuum with some commonalities in biological origins or pathways. A second objective of this meeting was to highlight current issues surrounding the classification of sudden infant death syndrome (SIDS), and the implications of variations in the use of the term “SIDS” in forensic practice, and pediatric care and research. The proceedings reflected the most current knowledge and understanding of the origins and biology of vulnerability to sudden unexpected death, and its environmental triggers. Participants were encouraged to consider the application of new technologies and “omics” approaches to accelerate research. The major advances in delineating the intrinsic vulnerabilities to sudden death in early life have come from epidemiologic, neural, cardiac, metabolic, genetic, and physiologic research, with some commonalities among cases of unexplained stillbirth, SIDS, and sudden unexplained death in childhood observed. It was emphasized that investigations of sudden unexpected death are inconsistent, varying by jurisdiction, as are the education, certification practices, and experience of death certifiers. In addition, there is no practical consensus on the use of “SIDS” as a determination in cause of death. Major clinical, forensic, and scientific areas are identified for future research. PMID:27230764

  17. [The Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Florida's Health, 1976

    1976-01-01

    This collection of articles on the Sudden Infant Death Syndrome (SIDS), drawn from a southeastern regional symposium on the subject, summarizes much of what is known about the occurrence of SIDS, including current information about its causes. The background of state action in Florida is reviewed, with emphasis on the need for increased public and…

  18. [The Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Florida's Health, 1976

    1976-01-01

    This collection of articles on the Sudden Infant Death Syndrome (SIDS), drawn from a southeastern regional symposium on the subject, summarizes much of what is known about the occurrence of SIDS, including current information about its causes. The background of state action in Florida is reviewed, with emphasis on the need for increased public and…

  19. Asplenia as a cause of sudden unexpected death in childhood.

    PubMed

    Kanthan, R; Moyana, T; Nyssen, J

    1999-03-01

    Sudden unexpected death in childhood is rare. The commonest causes of such deaths are a result of fulminating infections of the respiratory or nervous systems. Other causes include unsuspected congenital abnormalities of the heart, acute metabolic disorders, and rarities such as internal hemorrhages and pulmonary thrombosis. Recognition of children with congenital asplenia who are otherwise normal but have an increased susceptibility to overwhelming sepsis is extremely difficult. We reviewed 1763 autopsy files from our institution over 5 years (1990-1995), of which 293 were classified as pediatric cases. The vast majority of the cases were stillbirths and deaths within the first year of life as a result of complex congenital anomalies. Four cases of asplenia were identified in our entire series, 3 of which were of the congenital syndromal variety and 1 of which was a case of isolated sporadic congenital asplenia. All 4 cases of asplenia were analyzed in detail with respect to autopsy findings and cause of death. Severe complex cardiac malformations were present in the congenital syndromal asplenia patients; these other malformations contributed significantly to their death. In this report, we discuss in detail the autopsy findings in a previously healthy 4-year-old girl who presented with a brief 8-hour history of being unwell and died within 4 hours of admission into the hospital. She had sporadic, isolated congenital asplenia complicated by high-grade type 6B pneumococcemia and acute bilateral adrenal hemorrhage (Waterhouse-Friderichsen syndrome). Previously healthy children who clinically deteriorate very rapidly should have a blood smear done as part of their clinical workup. The detection of Howell-Jolly bodies on a peripheral blood smear can be an indicator of asplenia, and this diagnosis can be confirmed by medical imaging of the abdomen. Such steps may aid in the aggressive management of isolated congenital asplenia and thereby avert untimely death.

  20. [Melkersson-Rosenthal syndrome in childhood].

    PubMed

    Butenschön, H

    1976-11-01

    A case of cheilitis granulomatosa in an 11-year-old boy is presented. The frequency of Melkersson-Rosenthal-syndrome in childhood is compiled from data in the literature. The Melkersson-Rosenthal-syndrome does not differ in children in its clinical and histological picture known from adults. In childhood, females are more often affected than males. The etiology of the syndrome ist still unknown. Symptomatic and temporal improvement could be achieved following local injections of triamcinolone acetonide suspension.

  1. Psychosocial Aspects of the Sudden Infant Death Syndrome ("Cot Death").

    ERIC Educational Resources Information Center

    Bluglass, Kerry

    1981-01-01

    Reviews literature on reactions of parents and siblings to Sudden Infant Death Syndrome (SIDS). The prospects for prolonged, adverse reactions are considered, and professional concerns regarding abnormal adaptation are noted. (Author/DB)

  2. Sudden Arrhythmia Death Syndromes (SADS) Foundation

    MedlinePlus

    ... Family Seminar 04/29/17 Update on Inherited Arrhythmias: Recent Advancements in Therapies and Diagnosis--From 8: ... Legal Notice Privacy Policy COPYRIGHT ©2011-2016 Sudden Arrhythmia Death Syndromes Foundation 4527 South 2300 East, Suite ...

  3. Early Childhood Injury Deaths in Washington State.

    ERIC Educational Resources Information Center

    Starzyk, Patricia M.

    This paper discusses data on the deaths of children aged 1-4 years in Washington State. A two-fold approach was used in the analysis. First, Washington State death certificate data for 1979-85 were used to characterize the deaths and identify hazardous situations. Second, death certificates were linked to birth certificates of children born in…

  4. Childhood deaths from external causes in Estonia, 2001–2005

    PubMed Central

    Väli, Marika; Lang, Katrin; Soonets, Ruth; Talumäe, Marika; Grjibovski, Andrej M

    2007-01-01

    Background In 2000, the overall rate of injury deaths in children aged 0–14 was 28.7 per 100000 in Estonia, which is more than 5 times higher than the corresponding rate in neighbouring Finland. This paper describes childhood injury mortality in Estonia by cause and age groups, and validates registration of these deaths in the Statistical Office of Estonia against the autopsy data. Methods The data on causes of all child deaths in Estonia in 2001–2005 were abstracted from the autopsy protocols at the Estonian Bureau of Forensic Medicine. Average annual mortality rates per 100,000 were calculated. Coverage (proportion of the reported injury deaths from the total number of injury deaths) and accuracy (proportion of correctly classified injury deaths) of the registration of causes of death in Statistical Office of Estonia were assessed by comparing the Statistical Office of Estonia data with the data from Estonian Bureau of Forensic Medicine. Results Average annual mortality from external causes in 0–14 years-old children in Estonia was 19.1 per 100,000. Asphyxia and transport accidents were the major killers followed by poisoning and suicides. Relative contribution of these causes varied greatly between age groups. Intent of death was unknown for more than 10% of injury deaths. Coverage and accuracy of registration of injury deaths by Statistical Office of Estonia were 91.5% and 95.3%, respectively. Conclusion Childhood mortality from injuries in Estonia is among the highest in the EU. The number of injury deaths in Statistical Office of Estonia is slightly underestimated mostly due to misclassification for deaths from diseases. Accuracy of the Statistical Office of Estonia data was high with some underestimation of intentional deaths. Moreover, high proportion of death with unknown intent suggests underestimation of intentional deaths. Reduction of injury deaths should be given a high priority in Estonia. More information on circumstances around death is

  5. Pathways to lifespan health following childhood parental death

    PubMed Central

    Luecken, Linda J.; Roubinov, Danielle S.

    2013-01-01

    The death of a parent is a profoundly stressful form of childhood adversity, increasing the short- and long-term risk of mental health problems. Emerging research suggests it may also disrupt biological regulatory systems and increase the risk of long-term physical health problems. This article presents a theoretical framework of the process by which the experience of parental death during childhood may influence mental and physical health outcomes over time. Drawing from a broad literature on adaptation following childhood parental loss, we focus on risk and protective factors in the childhood environment that are theoretically and empirically linked to emotional and biological regulatory responses to stress later in life, the effects of which may accumulate to impact long-term health. PMID:23555319

  6. Death due to electrocution in childhood and early adolescence.

    PubMed

    Byard, R W; Hanson, K A; Gilbert, J D; James, R A; Nadeau, J; Blackbourne, B; Krous, H F

    2003-01-01

    To delineate the clinicopathological features of fatal childhood electrocutions and to identify specific risk factors. Coronial files in Adelaide (Australia) were searched from 1967 to 2001 and Medical Examiners' files in San Diego (USA) were searched from 1988 to 2001, for cases of deaths of children and adolescents younger than 16 years attributed to electrocution. Sixteen cases were identified aged between 10 months and 15 years (mean 8.0 years) with a male : female ratio of 5 : 3. Deaths were due to accidents occurring while playing with or near faulty electrical equipment at home or at school (n = 8), electrical equipment while in the bath (n = 2), damaged outdoor electrical equipment (n = 1), overhead wires (n = 1), and a high voltage electricity substation (n = 1). In addition, one death was due to suicide involving an electrical appliance placed in a bath, and two other deaths occurred in older children who were moving equipment under overhead wires. No homicides were identified. Childhood deaths due to electrocution are rare and are more likely to occur when children are playing around electrical wires or equipment, and often result from either faulty apparatus, or a lack of understanding of the potential dangers involved. The majority of deaths (11/16; 69%) occur in the home environment. In contrast to adult electrical deaths, high-voltage electrocutions, suicides and workplace deaths are uncommon. Strategies for eliminating childhood electrocution should concentrate on ensuring safe domestic environments with properly maintained electrical devices.

  7. Prenatal death in Fraser syndrome.

    PubMed

    Comstock, Jessica M; Putnam, Angelica R; Opitz, John M; Pysher, Theodor J; Szakacs, Juliana

    2005-01-01

    Cryptophthalmos may be partial or complete, unilateral or bilateral, apparently nonsyndromal or syndromal. A recent study of 2 stillborn infants at the University of Utah prompted an analysis of the developmental aspects of the syndromal form (Fraser syndrome). We conclude that, per se, cryptophthalmos is a developmental field defect on the basis of heterogeneity (autosomal dominant and recessive forms) and phylogeneity (occurrence also in the pheasant, rabbit, pigeon, dog, and mouse). In humans this autosomal recessive disorder maps to 4q21, is homologous to the bleb (bl/bl) mouse, and is due to mutations in the FRAS1 gene that codes for a 4007 amino acid protein 85% identical to the Fras1 gene of the bleb mouse. Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects. Almost half of affected infants are stillborn or die in infancy, and mental retardation is common. The pathogenesis evidently involves abnormal epithelial integrity during prenatal life. Older (mostly German) publications, some dating to the 19th century, provide a fascinating historical insight into the process of syndrome delineation.

  8. Childhood of Males with the XYY Syndrome

    ERIC Educational Resources Information Center

    Nielsen, Johannes; And Others

    1973-01-01

    Investigated to determine specific intelligence, personality characteristics, and behavioral patterns of boys with the XYY syndrome (a rare pattern of sex chromosome imbalance) were the childhood and adolescence of 20 males, 6- to 58-years of age at time of diagnosis. (Author/MC)

  9. Childhood of Males with the XYY Syndrome

    ERIC Educational Resources Information Center

    Nielsen, Johannes; And Others

    1973-01-01

    Investigated to determine specific intelligence, personality characteristics, and behavioral patterns of boys with the XYY syndrome (a rare pattern of sex chromosome imbalance) were the childhood and adolescence of 20 males, 6- to 58-years of age at time of diagnosis. (Author/MC)

  10. Alcohol Use and Sudden Infant Death Syndrome

    ERIC Educational Resources Information Center

    Friend, Karen B.; Goodwin, Matthew S.; Lipsitt, Lewis P.

    2004-01-01

    Despite general evidence of fetal toxicities associated with sudden infant death syndrome (SIDS), there has been limited research focusing on the effects of parental alcohol use on SIDS occurrence, either directly or in interaction with other risk conditions. The purpose of this paper is to review the literature on parental, especially maternal,…

  11. Sudden death syndrome of soybean in Argentina

    USDA-ARS?s Scientific Manuscript database

    Sudden death syndrome (SDS) is one of the most common and widely spread root disease affecting soybean [Glycine max (L.) Merr.] in Argentina where it is an economically important crop. This disease was first discovered in this country in 1992 in the Pampas Region, and the following year in Northwest...

  12. Death during immersion in water in childhood.

    PubMed

    Smith, N M; Byard, R W; Bourne, A J

    1991-09-01

    Drowning is a relatively common cause of accidental death in children. Autopsy records at the Adelaide Children's Hospital over a 27-year period from 1964 to 1990 were examined, and 58 cases were found where the cause of death was listed as drowning. In six cases, however, careful examination of the history and postmortem findings provided important additional information that suggested a more complex antemortem sequence of events. Specifically, four patients aged between 6 years, 10 months and 11 years were known to have had epilepsy. A further patient, an 8-year-old boy, died from a subarachnoid hemorrhage due to a bleeding cerebral arteriovenous malformation while swimming. The final patient, an 11-year-old boy who collapsed in a public swimming pool, was found at autopsy to have marked hypoplasia of the right coronary artery. In this series, six of 58 (10.3%) of the pediatric cases had additional underlying medical problems that could either have initiated the drowning episode or caused death due to alternate mechanisms. We present the clinicopathological findings in detail to demonstrate that a high index of suspicion must be maintained in all cases of pediatric drowning, not only for unnatural causes of death but also for additional natural disease processes that may have contributed significantly to the fatal episode. These findings may have particular relevance in jurisdictions where full postmortem examination is not always required by law.

  13. Childhood deaths from unintentional injuries in rural areas of Iran

    PubMed Central

    Soori, H.; Naghavi, M.

    1998-01-01

    Setting—Thirteen provinces of Iran, with a total population of 11.3 million for 1993–94. Methods—A descriptive epidemiological study, which obtained information about all deaths using a questionnaire from 6267 Health Houses (rural health centres) for one year, 1993–94. Subjects were residents who died from unintentional injuries. Results—Crude mortality rate was 4.33 per 1000. The number of childhood deaths from unintentional injuries was 1832 (16.6% of all deaths), more among males than females (43.7 v 31.2 per 100 000). Those under 1 had the highest rate, 114.7 per 100 000. The top three causes of deaths were traffic accidents (37.5%), drowning (17.9%), and burns and scalds (12.1%). Conclusions—During the past decade there has been a marked decline in deaths from infectious diseases in Iran. However, at present, a high proportion of childhood deaths in rural areas are from unintentional injuries. Because all age groups and both sexes are victims of unintentional injuries, and most injuries are preventable, they must be considered as a priority health problem in Iran. PMID:9788095

  14. Slipping rib syndrome in childhood.

    PubMed

    Mooney, D P; Shorter, N A

    1997-07-01

    Slipping rib syndrome is an unusual cause of lower chest and upper abdominal pain in children not mentioned in major pediatric surgical texts. The syndrome occurs when the medial fibrous attachments of the eighth, ninth, or tenth ribs are inadequate or ruptured, allowing their cartilage tip to slip superiorly and impinge on the intervening intercostal nerve. This may cause a variety of somatic and visceral complaints. Although the diagnosis may be made based on history and physical examination, lack of recognition of this disorder frequently leads to extensive diagnostic evaluations before definitive therapy. The authors report on four children who have this disorder.

  15. Childhood pedestrian deaths during Halloween -- United States, 1975-1996.

    PubMed

    1997-10-24

    During 1995, pedestrian deaths accounted for approximately 15% of all motor-vehicle-related deaths sustained by children aged 0-19 years in the United States. Because of the levels of participation in Halloween-related activities by elementary and middle school-aged children, these children might be more likely to sustain pedestrian injuries on that evening than on other evenings. To characterize the occurrence of fatal pedestrian injury among children on Halloween, CDC analyzed mortality data from the Fatal Analysis Reporting System (FARS) of the National Highway Traffic Safety Administration (NHTSA) during 1975-1996. This report summarizes the results of the analysis and suggests measures to prevent Halloween-related pedestrian injuries and deaths among children. The findings indicate that the number of childhood pedestrian deaths increased fourfold among children on Halloween evenings when compared with all other evenings.

  16. Parental death during childhood and psychopathology in adulthood.

    PubMed

    Stikkelbroek, Yvonne; Prinzie, Peter; de Graaf, Ron; Ten Have, Margreet; Cuijpers, Pim

    2012-08-15

    We examined the association between parental death during childhood and lifetime and 12-month psychopathology, age of onset, incidence of mental health problems, use of mental health services during adulthood and functional limitations during adulthood. We conducted a longitudinal, population-based epidemiological study in adults aged 18-64 years (N=7076). Mental disorders were assessed with a standardized diagnostic interview (Composite International Diagnostic Interview (CIDI)). Few indications were found that there was a significant increase in mental disorders in adulthood among people who had lost a parent before the age of 16 (N=541). Parental death was not associated with mental disorders (12 months; lifetime), age of onset, incidence of mental disorders, functional limitations or use of mental health services. The majority of children overcome the loss of a parent during childhood without experiencing increased mental health problems, reduced functional limitations or a greater need for mental health services during adulthood. Copyright © 2012 Elsevier Ltd. All rights reserved.

  17. Forensic epidemiology of childhood deaths in Nebraska, USA.

    PubMed

    Okoye, Cordelia N; Okoye, Matthias I

    2011-11-01

    In a 7-year period (April 1, 2003-March 31, 2010), all medico-legal childhood deaths aged 0-18 years investigated by the Lancaster County Coroner's Office under the auspices of Nebraska Institute of Forensic Sciences, Inc. (NIFS), were retrospectively reviewed (n = 140). This number of cases represents 10.9% of the 1287 forensic autopsies performed during the same period. Age, race, gender, cause and manner of deaths were analyzed for all victims categorized into five age groups: 0-1 year, 1-4 years, 5-9 years, 10-14 years, and 15-18 years. Male victims predominated with 98 cases (70%) versus 42 cases (30%) for females giving a male to female ratio of 2.3: 1. The mean age of the children was 7.6 years. The racial composition was 86.4% white, 10.7% Hispanic, 0.7% American Indian, 1.4% African American, and 0.7% Asian American. The majority of deaths occurred in the 0-1 age group (50 cases), followed in rank order by the 15-18 age group (40 cases), the 1-4 age group (23 cases), the 10-14 age group (17 cases), and the 5-9 age group (10 cases). The most common manner of death was accident, followed by natural, suicide, homicide, and undetermined. Accidents accounted for 71 cases (50.7%) of all the deaths and are amenable to prevention. Accidental blunt force trauma accounted for 41 cases or 58% of all the accident cases. The share of motor vehicle crashes in total blunt force trauma deaths was 33 cases. Natural deaths comprised 42 cases or 30% of all the deaths. Suicide (19 cases or 13.6% of all the deaths) was only encountered in the older age groups, the 10-14 age group (6 cases) and the 15-18 age group (13 cases). However, homicide which was observed as the least common manner of death (7 cases) was more predominant among the younger age groups (0-1 and 1-4 age groups). This review may provide useful information for the forensic pathologist, death investigators, law enforcement officers, policy makers, healthcare providers and Nebraska Child Death Review Team in

  18. Acquired alexia with agraphia syndrome in childhood.

    PubMed

    Paquier, Philippe F; De Smet, Hyo Jung; Mariën, Peter; Poznanski, Nathalie; Van Bogaert, Patrick

    2006-04-01

    The acquired alexia with agraphia syndrome is a conspicuous disorder of reading and writing in the absence of significant other language impairments that has mainly been recorded in adults. Pure cases are rare, with most patients displaying mild aphasic deficits. In children, acquired reading and writing disorders are generally reported as part of more encompassing aphasic syndromes affecting oral and written language equally, for example, Broca or Wernicke aphasia. Documented instances of predominant acquired reading and writing disorders in childhood are exceptional. We report an 11-year-old, right-handed boy who sustained a left temporoparieto-occipital hematoma following rupture of an arteriovenous malformation and who consecutively presented with the acquired alexia with agraphia syndrome associated with word-finding difficulties. Neuropsychologic and neurolinguistic data showed that there was no concomitant Gerstmann and/or angular gyrus syndrome. Th e recoveryfrom the anomia was quite favorable, but recovery of written language was more protracted and acted on the patient's further scholastic achievement. This case is reminiscent of a historical childhood case reported in 1939 and is consonant with adult cases in terms of lesion location and semiologic picture.

  19. Childhood wheezing syndromes and healthcare data.

    PubMed

    Kozyrskyj, Anita L; Mustard, Cameron A; Becker, Allan B

    2003-08-01

    There is convincing evidence that several distinct wheezing syndromes exist in childhood. The purpose of this research was to assess the potential of using healthcare utilization profiles to identify wheezing syndromes in children which are distinct from asthma. Using population-based healthcare administrative data, a cohort of children, aged 5-15 years, with bronchitis diagnoses from time of birth to 1995, but no physician diagnoses of asthma, was followed over the period January 1996-March 1998. In this follow-up period, 13% had subsequent healthcare utilization for asthma, 23% had continued healthcare utilization for bronchitis, and 64% had no further healthcare utilization. The likelihood of bronchitis vs. asthma outcomes was determined for a variety of asthma risk factors. In a cohort of 11,043 children with initial healthcare contact for bronchitis but not asthma, two potentially distinct entities of bronchitis emerged from our data: 1) transient bronchitis, similar to transient wheezing of early childhood, which was associated with winter-only healthcare utilization and absence of allergy, and 2) recurrent bronchitis which differed from asthma on the basis of winter-only healthcare utilization, prematurity at birth, absence of allergy, and low socioeconomic status. Healthcare administrative records can be used to describe the natural history of wheezing in children and to identify markers which may discriminate asthma from other syndromes.

  20. Infectious causes of sudden infant death syndrome.

    PubMed

    Alfelali, Mohammad; Khandaker, Gulam

    2014-12-01

    Investigators have long suspected the role of infection in sudden infant death syndrome (SIDS). Evidence of infectious associations with SIDS is accentuated through the presence of markers of infection and inflammation on autopsy of SIDS infants and isolates of some bacteria and viruses. Several observational studies have looked into the relation between seasonality and incidence of SIDS, which often showed a winter peak. These all may suggest an infectious aetiology of SIDS. In this review we have summarised the current literature on infectious aetiologies of SIDS by looking at viral, bacterial, genetic and environmental factors which are believed to be associated with SIDS. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. [Reye's syndrome: the death of a syndrome? (Or death by a syndrome?)].

    PubMed

    Calvani, M

    2000-12-01

    Reye syndrome is characterized by acute encephalopathy and fatty degeneration of the liver almost exclusively in children. The onset is heralded by profuse vomiting and varying neurologic impairment from irritability to coma, decerebration and death. The encephalopathy must be associated with a greater increase in the levels of ammonia, or alanine amino-transferase and aspartate amino-transferase in serum; and with a fatty metamorphosis of the liver diagnosed by biopsy or at autopsy. The only characteristic universally accepted as diagnostic are the specific mithocondrial changes in the liver-biopsy specimen. Larger studies confirmed the association of aspirin with RS. The CDC of Atlanta cautioned physician and parents and a dramatic decline in case began at that time. Classic Reye syndrome is now so rare in the USA that when an apparent case is encountered in a child who has not taken aspirin, other diagnoses should be considered. After a brief survey of RS relative lack of specificity of case definition and of the polyhedric etiopathogenetic moments, the A. on the personal experience, point: a) the biological unicity of the man and the necessary coexistence of "constitutional" factors (metabolic and/or endocrine, and/or immunitary factors, the later almost never investigated), toxic, and infectious factors for the syndrome's deflagration; b) some aspects of the continued existence of therapeutic and diagnostic problems: the aspirin and/or salicilate use and the pharmacogenetic; the continued existence of other, generally similar conditions, such the drug and other known and unknown toxic mithocondrial factors that provoke this unusual response to common infections; and the inborn errors of metabolism; c) some practical aspects of diagnostic and therapeutic approach.

  2. Global Childhood Deaths From Pertussis: A Historical Review

    PubMed Central

    Chow, Maria Yui Kwan; Khandaker, Gulam; McIntyre, Peter

    2016-01-01

    Impact of pertussis vaccines on mortality is a key World Health Organization indicator, and trends in mortality rates and age distribution can inform maternal immunization strategies. We systematically reviewed studies reporting pertussis mortality rates (PMRs) per million population, identifying 19 eligible studies. During a prevaccine observation period of ≥50 years in high-income countries (HICs), PMRs reduced in both infants and 1- to 4-year-olds by >80%, along with improvements in living conditions. In studies in low- and middle-income countries (LMICs), PMRs resembled highest prevaccine HIC rates. Postvaccine in HICs, significant further reduction in deaths (>98%) occurred, but with a large left shift in age of onset among residual deaths. Postvaccine in LMICs, limited data also show large and rapid decreases in PMRs, first in older infants and children, but long-term data fully enumerating residual deaths are lacking. In Sweden, large increases in the prevalence of undetectable pertussis antibodies were found at 10 years after high childhood coverage of acellular pertussis vaccines. Such data are not available from LMICs using whole-cell vaccines in a primary schedule without boosters. Data on residual infant deaths and maternal seroprevalence would be valuable inputs into consideration of pertussis vaccination in pregnancy in LMIC settings, especially if more precise immune correlates of infant protection against death from pertussis were known. PMID:27838665

  3. Sudden Unexpected Infant Death and Sudden Infant Death Syndrome: Reducing the Risk

    MedlinePlus

    ... Recommend on Facebook Tweet Share Compartir Learn about grief resources and about actions parents and caregivers can ... death syndrome (SIDS) and other sleep-related deaths. Grief Resources The following organizations offer support for people ...

  4. Dummies and the sudden infant death syndrome.

    PubMed Central

    Mitchell, E A; Taylor, B J; Ford, R P; Stewart, A W; Becroft, D M; Thompson, J M; Scragg, R; Hassall, I B; Barry, D M; Allen, E M

    1993-01-01

    The association between dummy use and sudden infant death syndrome (SIDS) was investigated in 485 deaths due to SIDS in the postneonatal age group and compared with 1800 control infants. Parental interviews were completed in 87% of subjects. The prevalence of dummy use in New Zealand is low and varies within New Zealand. Dummy use in the two week period before death was less in cases of SIDS than in the last two weeks for controls (odds ratio (OR) 0.76, 95% confidence interval (CI) 0.57 to 1.02). Use of a dummy in the last sleep for cases of SIDS or in the nominated sleep for controls was significantly less in cases than controls (OR 0.44, 95% CI 0.26 to 0.73). The OR changed very little after controlling for a wide range of potential confounders. It is concluded that dummy use may protect against SIDS, but this observation needs to be repeated before dummies can be recommended for this purpose. If dummy sucking is protective then it is one of several factors that may explain the higher mortality from SIDS in New Zealand than in other countries, and may also explain in part the regional variation within New Zealand. PMID:8503676

  5. Otolaryngological aspects of sudden infant death syndrome.

    PubMed

    Marom, Tal; Cinamon, Udi; Castellanos, Paul F; Cohen, Marta C

    2012-03-01

    Sudden infant death syndrome (SIDS) is characterized by the sudden death of an apparently otherwise healthy infant, typically during sleep, and with no obvious case after a thorough post-mortem and scene death examination. To address the problem from the otolaryngologist's perspective, describe relevant pathologies, discuss controversies and suggest preventive measures in high-risk populations. A MEDLINE search and hand search were conducted to identify reports published between 1969 and 2011 in the English language on the pathophysiology of SIDS related to the head and neck organs. Search terms included SIDS (MeSH term), SIDS and pathophysiology (text words), and SIDS and autopsy (text words). A growing number of reports suggested head and neck organs involvement in SIDS autopsies. Laryngeal, oropharyngeal, maxillofacial, otologic, cervical vascular abnormalities and infectious etiologies, were recognized and discussed. Otolaryngologists should be aware of relevant pathologies, as some are treatable, if identified early enough in infancy. A proactive risk-management approach is warranted in infants presenting with certain abnormalities reviewed here. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  6. Occult Adrenocortical Carcinoma and Unexpected Early Childhood Death.

    PubMed

    Pilla, Mark; Gilbert, John; Moore, Lynette; Byard, Roger W

    2017-01-01

    A four-year-old previously well boy collapsed unexpectedly and was taken immediately to hospital, where he developed seizures and cardiogenic shock with lethal, rapidly progressing multi-organ failure. At autopsy, the height was >90th percentile and there were indications of early virilization. Internally, a friable tumor of the left adrenal gland was identified that had invaded the left renal vein and inferior vena cava. Histology revealed typical features of an adrenocortical carcinoma with aggregated trabeculae of cells containing abundant eosinophilic cytoplasm and large pleomorphic nuclei. There was strong positive cytoplasmic staining for inhibin; mitochondria were shown on electron microscopy to contain prominent electron-dense granules. Death was due to massive pulmonary tumor embolism. Although adrenocortical carcinomas are very rare and are more commonly found in adults, the current case demonstrates that they may also occur in childhood and be responsible for unexpected death by the very unusual mechanism of tumor embolism.

  7. Escherichia coli and Sudden Infant Death Syndrome

    PubMed Central

    Bettelheim, Karl A.; Goldwater, Paul N.

    2015-01-01

    This review examines the association of strains of Escherichia coli with sudden infant death syndrome (SIDS) and the possible role these bacteria play in this enigmatic condition. The review addresses evidence for E. coli in SIDS infants, potential sources of E. coli in the environment, colonization by commensal and pathogenic strains, the variety of currently accepted pathotypes, and how these pathotypes could compromise intestinal integrity and induce inflammation. Both intestinal and extraintestinal pathotypes are compared in relation to the apparent liability in which virulence traits can be gained or lost by strains of E. coli. The way in which E. coli infections fit with current views on infant sleeping position and other SIDS risk factors is highlighted. PMID:26191064

  8. Deaths among Children, Adolescents, and Young Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Miodrag, Nancy; Silverberg, Sophie E.; Urbano, Richard C.; Hodapp, Robert M.

    2013-01-01

    Background: Although life expectancies in Down syndrome (DS) have doubled over the past 3-4 decades, there continue to be many early deaths. Yet, most research focuses on infant mortality or later adult deaths. Materials and Methods: In this US study, hospital discharge and death records from the state of Tennessee were linked to examine 2046…

  9. Deaths among Children, Adolescents, and Young Adults with Down Syndrome

    ERIC Educational Resources Information Center

    Miodrag, Nancy; Silverberg, Sophie E.; Urbano, Richard C.; Hodapp, Robert M.

    2013-01-01

    Background: Although life expectancies in Down syndrome (DS) have doubled over the past 3-4 decades, there continue to be many early deaths. Yet, most research focuses on infant mortality or later adult deaths. Materials and Methods: In this US study, hospital discharge and death records from the state of Tennessee were linked to examine 2046…

  10. Sudden Infant Death Syndrome and Residential Altitude

    PubMed Central

    Shore, Supriya; Bandle, Brian; Niermeyer, Susan; Bol, Kirk A.; Khanna, Amber

    2015-01-01

    BACKGROUND: Theories of sudden infant death syndrome (SIDS) suggest hypoxia is a common pathway. Infants living at altitude have evidence of hypoxia; however, the association between SIDS incidence and infant residential altitude has not been well studied. METHODS: We performed a retrospective cohort study by using data from the Colorado birth and death registries from 2007 to 2012. Infant residential altitude was determined by geocoding maternal residential address. Logistic regression was used to determine adjusted association between residential altitude and SIDS. We evaluated the impact of the Back to Sleep campaign across various altitudes in an extended cohort from 1990 to 2012 to assess for interaction between sleep position and altitude. RESULTS: A total of 393 216 infants born between 2007 and 2012 were included in the primary cohort (51.4% boys; mean birth weight 3194 ± 558 g). Overall, 79.6% infants resided at altitude <6000 feet, 18.5% at 6000 to 8000 feet, and 1.9% at >8000 feet. There were no meaningful differences in maternal characteristics across altitude groups. Compared with residence <6000 feet, residence at high altitude (>8000 feet), was associated with an adjusted increased risk of SIDS (odds ratio 2.30; 95% confidence interval 1.01–5.24). Before the Back to Sleep campaign, the incidence of SIDS in Colorado was 1.99/1000 live births and dropped to 0.57/1000 live births after its implementation. The Back to Sleep campaign had similar effect across different altitudes (P = .45). CONCLUSIONS: Residence at high altitude was significantly associated with an increased adjusted risk for SIDS. Impact of the Back to Sleep campaign was similar across various altitudes. PMID:26009621

  11. Sudden infant death syndrome and residential altitude.

    PubMed

    Katz, David; Shore, Supriya; Bandle, Brian; Niermeyer, Susan; Bol, Kirk A; Khanna, Amber

    2015-06-01

    Theories of sudden infant death syndrome (SIDS) suggest hypoxia is a common pathway. Infants living at altitude have evidence of hypoxia; however, the association between SIDS incidence and infant residential altitude has not been well studied. We performed a retrospective cohort study by using data from the Colorado birth and death registries from 2007 to 2012. Infant residential altitude was determined by geocoding maternal residential address. Logistic regression was used to determine adjusted association between residential altitude and SIDS. We evaluated the impact of the Back to Sleep campaign across various altitudes in an extended cohort from 1990 to 2012 to assess for interaction between sleep position and altitude. A total of 393 216 infants born between 2007 and 2012 were included in the primary cohort (51.4% boys; mean birth weight 3194 ± 558 g). Overall, 79.6% infants resided at altitude <6000 feet, 18.5% at 6000 to 8000 feet, and 1.9% at >8000 feet. There were no meaningful differences in maternal characteristics across altitude groups. Compared with residence <6000 feet, residence at high altitude (>8000 feet), was associated with an adjusted increased risk of SIDS (odds ratio 2.30; 95% confidence interval 1.01-5.24). Before the Back to Sleep campaign, the incidence of SIDS in Colorado was 1.99/1000 live births and dropped to 0.57/1000 live births after its implementation. The Back to Sleep campaign had similar effect across different altitudes (P = .45). Residence at high altitude was significantly associated with an increased adjusted risk for SIDS. Impact of the Back to Sleep campaign was similar across various altitudes. Copyright © 2015 by the American Academy of Pediatrics.

  12. Racial/ethnic disparities in timing of death during childhood among children with congenital heart defects.

    PubMed

    Nembhard, Wendy N; Xu, Ping; Ethen, Mary K; Fixler, David E; Salemi, Jason L; Canfield, Mark A

    2013-10-01

    Infants with congenital heart defects (CHD) have increased risk of morbidity and mortality. Little is known about racial/ethnic differences in timing of death during childhood. Our intent was to investigate racial/ethnic differences in mortality for CHDs during specific time periods in childhood. Texas Birth Defect Registry data were used for a retrospective cohort study with 30,015 singleton infants with a CHD, born January 1, 1999, to December 31, 2007, to non-Hispanic (NH) white, NH-black, or Hispanic women. Texas Birth Defect Registry data were linked to Texas death records to ascertain death. Kaplan-Meier survival probabilities and multivariable Cox-proportional hazard ratios (HRs) and 95% confidence intervals (CIs) were calculated. NH-blacks and Hispanics with specific CHDs had increased mortality during the postneonatal period and early childhood. NH-blacks had increased postneonatal mortality compared with NH-whites for transposition of the great arteries (HR = 2.4; 95% CI, 1.5-4.0), pulmonary valve atresia without ventricular septal defect (HR = 4.1; 95% CI, 1.7-9.7), Ebstein's anomaly (HR = 8.6; 95 CI, 1.2-61.1), hypoplastic left heart syndrome (HR = 2.1; 95% CI, 1.2-3.7), coarctation of the aorta (HR = 2.1; 95% CI, 1.2-3.5), ventricular septal defect (HR = 2.1; 95% CI, 1.6-2.8), and atrial septal defect (HR = 1.4; 95% CI, 1.1-1.8). Hispanics had increased postneonatal mortality risk for tetralogy of Fallot (HR = 2.0; 95% CI, 1.1-3.5). Racial/ethnic increases in mortality risk were also observed during infancy and childhood. Racial/ethnic differences in mortality were most notably observed during the postneonatal period and early childhood. Future studies should assess factors associated with this disparity in mortality risk for infants with CHDs. Copyright © 2013 Wiley Periodicals, Inc.

  13. Risk reduction and sudden infant death syndrome.

    PubMed

    Gurbutt, Dawne; Gurbutt, Russell

    2007-01-01

    This article explores the concepts of 'risk' and 'risk reduction' in relation to sudden infant death syndrome (SIDS) and the implications for practice. Risk reduction is a term utilised in public health, which is usually linked to evidence-based outcomes. The Back to Sleep campaign is a high profile initiative which seeks to raise awareness of risk factors relating to SIDS and is largely credited with contributing to a significant reduction in the incidence of SIDS in the UK. Misunderstandings may occur between the terms 'risk reduction' and 'prevention' of health conditions and parents may feel that one equates to the other. There are also tensions which are inherent in defining risk in the context of SIDS. Certain measures may become 'shorthand' for a range of interventions and contributing factors. The practice of offering additional monitoring as support may reinforce a (mis)understanding about risk reduction and SIDS. There are implications for practice regarding how health professionals approach this issue, explain the guidelines and offer support.A clearer understanding of risk reduction would potentially enable bereaved parents to articulate their experiences without becoming too self critical in questioning their own consistent adherence to the accepted guidelines.

  14. Childhood polyarteritis nodosa in autoimmune lymphoproliferative syndrome.

    PubMed

    Naumann-Bartsch, Nora; Stachel, Daniel; Morhart, Patrick; Staatz, Gundula; Jüngert, Jörg; Schwarz, Klaus; Holter, Wolfgang

    2010-01-01

    Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon disorder of Fas-mediated apoptosis that results in impaired lymphocyte death and, therefore, disturbed immune homeostasis. Besides presentation with lymphadenopathy and splenomegaly, patients with ALPS have a high incidence of autoimmune phenomena. To our knowledge, this is the first description of polyarteritis nodosa that includes numerous arterial aneurysms in a child with ALPS. Active vasculitis resolved after allogeneic hematopoietic stem cell transplantation. This report of polyarteritis nodosa associated with human ALPS supports previous findings in Fas-deficient mouse models that frequently develop vasculitic manifestations and suggests that apoptotic defects of lymphocytes may play a role in the pathophysiology of systemic vasculitis. Thus, patients with ALPS might be more susceptible to autoimmune vessel inflammation. This case furthermore emphasizes that even rare autoimmune manifestations should be considered and investigated in patients with immunodeficiencies, because that might help in planning treatment strategies for these patients.

  15. Childhood Sexual Abuse and Psychosomatic Symptoms in Irritable Bowel Syndrome

    ERIC Educational Resources Information Center

    Ross, Colin A.

    2005-01-01

    Irritable bowel syndrome is characterized by chronic gastrointestinal symptoms without a demonstrable physical cause. In a subgroup of patients, irritable bowel syndrome may be part of a cluster of psychosomatic symptoms related to childhood sexual abuse. To investigate this possibility, the Dissociative Disorders Interview Schedule (DDIS), the…

  16. Childhood Sexual Abuse and Psychosomatic Symptoms in Irritable Bowel Syndrome

    ERIC Educational Resources Information Center

    Ross, Colin A.

    2005-01-01

    Irritable bowel syndrome is characterized by chronic gastrointestinal symptoms without a demonstrable physical cause. In a subgroup of patients, irritable bowel syndrome may be part of a cluster of psychosomatic symptoms related to childhood sexual abuse. To investigate this possibility, the Dissociative Disorders Interview Schedule (DDIS), the…

  17. Sudden Infant Death Syndrome (SIDS) and Vaccines

    MedlinePlus

    ... Safety Review: Vaccination and Sudden Unexpected Death in Infancy. " The committee reviewed scientific evidence focusing on sudden unexpected death in infancy and looked for possible relationships between SIDS and ...

  18. Using death certificates to characterize sudden infant death syndrome (SIDS): opportunities and limitations.

    PubMed

    Shapiro-Mendoza, Carrie K; Kim, Shin Y; Chu, Susan Y; Kahn, Emily; Anderson, Robert N

    2010-01-01

    To examine cause-of-death terminology written on death certificates for sudden infant death syndrome (SIDS) and to determine the adequacy of this text data in more fully describing circumstances potentially contributing to SIDS deaths. With 2003 and 2004 US mortality files, we analyzed all deaths that were assigned the underlying cause-of-death code for SIDS (R95). With the terminology written on the death certificates, we grouped cases into SIDS-related cause-of-death subcategories and then assessed the percentage of cases in each subcategory with contributory or possibly causal factors described on the certificate. Of the 4408 SIDS-coded deaths, we subcategorized 67.2% as "SIDS" and 11.0% as "sudden unexplained (or unexpected) infant death." The terms "probable SIDS" (2.8%) and "consistent with SIDS" (4.6%) were found less frequently. Of those death certificates that described additional factors, "bedsharing or unsafe sleep environment" was mentioned approximately 80% of the time. Most records (79.4%) did not mention any additional factors. Our death certificate analysis of the cause-of-death terminology provided a unique opportunity to more accurately characterize SIDS-coded deaths. However, the death certificate was still limited in its ability to more fully describe the circumstances leading to SIDS death, indicating the need for a more comprehensive source of SIDS data, such as a case registry.

  19. Drowning as a Cause of Death in Angelman Syndrome.

    ERIC Educational Resources Information Center

    Ishmael, Holly A.; Begleiter, Michael L.; Butler, Merlin G.

    2002-01-01

    This study reports on a 9-year-old boy previously diagnosed with Angelman syndrome who died unexpectedly by drowning in a shallow backyard wading pool. The case illustrates the fascination with water by individuals with Angelman syndrome and highlights that this fascination may lead to death. The need for supervision is stressed. (Contains 5…

  20. New Areas for Preventive Programing: Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Lowman, Joseph

    Crisis intervention programs for persons experiencing the sudden death of family members or surviving natural disasters have been advocated as methods of primary prevention, although few have actually been implemented. A program utilizing nurses to deliver grief intervention to parents losing a baby to Sudden Infant Death Syndrome (SIDS) was…

  1. Training Emergency Responders: Sudden Infant Death Syndrome. An Instructor's Manual.

    ERIC Educational Resources Information Center

    Applied Science Associates, Inc., Reston, VA.

    This manual was developed to help instructors train police and emergency medical technicians, who often are the first persons to arrive at the scene of a death (first responders), to serve families who lose a child to Sudden Infant Death Syndrome (SIDS). The manual begins with an introduction that discusses the purpose of the training and…

  2. Prevalence and childhood antecedents of Depersonalization Syndrome in a UK Birth Cohort

    PubMed Central

    Lee, William E.; Kwok, Charlie H. T.; Hunter, Elaine C. M.; Richards, Marcus; David, Anthony S.

    2012-01-01

    Purpose Depersonalization syndrome is characterised by a sense of unreality about the self (depersonalization: DP) and/or the outside world (derealization: DR). Prevalence estimates vary widely. Little is known about childhood antecedents of the disorder although emotional abuse is thought to play a role. Methods Longitudinal data from 3275 participants of a UK population based birth cohort (the MRC National Survey of Health and Development) were used to: i) assess the prevalence of DP syndrome at age 36, measured by the Present State Examination (PSE); and ii) examine the effects of a range of socio-demographic, childhood adversity and emotional responses as potential risk factors for DP. Results Thirty three survey members were classified with DP, yielding a prevalence of 0.95% (95% confidence intervals (CI) 0.56 to 1.34). There were no associations with socioeconomic status, parental death or divorce; self reported accidents, childhood depression, tendency to daydream or reactions to criticism. However, teacher-estimated childhood anxiety was a strong independent predictor of adult depersonalization, and there were strong cross-sectional relationships between DP and anxiety and depression caseness. Conclusions To our knowledge this is the first study assessing nationwide prevalence of the DP syndrome and uses longitudinal data to explore childhood risk factors for adult DP. The prevalence of adult DP was slightly lower than reported by other surveys. The study found that childhood anxiety was the only significant predictor of the adult DP syndrome, supporting the view that depersonalisation disorder forms part of the spectrum of responses to anxiety. PMID:21181112

  3. Childhood predictive genetic testing for Li-Fraumeni syndrome.

    PubMed

    Evans, D G; Lunt, P; Clancy, T; Eeles, R

    2010-03-01

    Presymptomatic genetic testing in childhood for adult onset conditions is generally discouraged as it does not directly benefit the child and removes their autonomy. In certain cancer prone conditions such as Familial Adenomatous Polyposis and Von Hippel Lindau disease there are risks of disease in childhood and benefit to children not inheriting a mutation in being able to forego unpleasant screening tests. Li-Fraumeni syndrome caused by constitutional TP53 mutations there are also implications in childhood with a risk of around 20% of a childhood malignancy. However, as yet no evidence based surveillance programme has been identified. We describe our experience of childhood testing for four children in two Li-Fraumeni families caused by TP53 mutations.

  4. 'Childhood': are reports of its death greatly exaggerated?

    PubMed

    Darbyshire, Philip

    2007-06-01

    What is happening to our children's childhoods? Is childhood itself disappearing as children become increasingly 'adultified' and commodified and as the lives and worlds of children's experiences seem to shrink in the name of protection and safety? Are contemporary concerns justified about children becoming less active and more comfortable playing Gameboys rather than games and exploring 'Sim City' rather than their own real one? Or, are these simply adult 'moral panics' about childhood based on little more than nostalgia for a mythical childhood suffused with innocence and happiness? This article explores some of the current concerns regarding the changing state of childhood and links these to some of our current child health and well-being concerns. It concludes by suggesting some small-scale 'local' initiatives that parents and adults could support relatively easily, which would help to enrich childhood.

  5. Chronic Fatigue Syndrome (CFS): Childhood Adversity

    MedlinePlus

    ... humans from infancy throughout the lifespan. In various animal and human studies childhood trauma has been associated with low resting cortisol levels, altered stress response, increased inflammatory markers, and cognitive impairment. Childhood abuse has been connected to a wide range of ...

  6. South Dakota accidental childhood deaths, 2000-2007: what can we do?

    PubMed

    Svien, Lana R; Senne, Svien A; Rasmussen, Carl

    2010-05-01

    Unintentional injuries are the leading cause of death in children around the world and are an under-recognized public health problem in the United States. The purpose of this study was to highlight the nature of the problem in South Dakota and outline interventions that have been successful in reducing childhood injuries in other states. This quantitative retrospective study examined mortality files in South Dakota for children birth to 19 years of age who died between January 1, 2000 to December 28, 2007. Although the number of deaths declined considerably from 2006 to 2007, South Dakota had the second-highest rate in the nation of childhood unintentional injury deaths from all causes between 2000-2005. The majority of deaths occurred in males and were associated with transportation-related deaths. Suffocation was the leading cause of death for newborns to age 1 year. Childhood accidental death in South Dakota is clearly a critical public health problem. Intervention efforts to reduce deaths from unintentional injuries amongst children should be targeted as the leading causes of accidental death for specific age groups and American Indian youth. Physicians, health educators and policymakers must play a role in prevention targeting the high-risk groups in addition to advocating for policy changes to protect childhood safety. More stringent child restraint laws, graduated driving laws, smoking cessation programs for parents, creation of safer sleep environments and further investigation of why a high proportion of American Indian children die accidentally in South Dakota are all warranted.

  7. Metabolic syndrome induced by anticancer treatment in childhood cancer survivors.

    PubMed

    Chueh, Hee Won; Yoo, Jae Ho

    2017-06-01

    The number of childhood cancer survivors is increasing as survival rates improve. However, complications after treatment have not received much attention, particularly metabolic syndrome. Metabolic syndrome comprises central obesity, dyslipidemia, hypertension, and insulin resistance, and cancer survivors have higher risks of cardiovascular events compared with the general population. The mechanism by which cancer treatment induces metabolic syndrome is unclear. However, its pathophysiology can be categorized based on the cancer treatment type administered. Brain surgery or radiotherapy may induce metabolic syndrome by damaging the hypothalamic-pituitary axis, which may induce pituitary hormone deficiencies. Local therapy administered to particular endocrine organs directly damages the organs and causes hormone deficiencies, which induce obesity and dyslipidemia leading to metabolic syndrome. Chemotherapeutic agents interfere with cell generation and growth, damage the vascular endothelial cells, and increase the cardiovascular risk. Moreover, chemotherapeutic agents induce oxidative stress, which also induces metabolic syndrome. Physical inactivity caused by cancer treatment or the cancer itself, dietary restrictions, and the frequent use of antibiotics may also be risk factors for metabolic syndrome. Since childhood cancer survivors with metabolic syndrome have higher risks of cardiovascular events at an earlier age, early interventions should be considered. The optimal timing of interventions and drug use has not been established, but lifestyle modifications and exercise interventions that begin during cancer treatment might be beneficial and tailored education and interventions that account for individual patients' circumstances are needed. This review evaluates the recent literature that describes metabolic syndrome in cancer survivors, with a focus on its pathophysiology.

  8. Metabolic syndrome induced by anticancer treatment in childhood cancer survivors

    PubMed Central

    Chueh, Hee Won

    2017-01-01

    The number of childhood cancer survivors is increasing as survival rates improve. However, complications after treatment have not received much attention, particularly metabolic syndrome. Metabolic syndrome comprises central obesity, dyslipidemia, hypertension, and insulin resistance, and cancer survivors have higher risks of cardiovascular events compared with the general population. The mechanism by which cancer treatment induces metabolic syndrome is unclear. However, its pathophysiology can be categorized based on the cancer treatment type administered. Brain surgery or radiotherapy may induce metabolic syndrome by damaging the hypothalamic-pituitary axis, which may induce pituitary hormone deficiencies. Local therapy administered to particular endocrine organs directly damages the organs and causes hormone deficiencies, which induce obesity and dyslipidemia leading to metabolic syndrome. Chemotherapeutic agents interfere with cell generation and growth, damage the vascular endothelial cells, and increase the cardiovascular risk. Moreover, chemotherapeutic agents induce oxidative stress, which also induces metabolic syndrome. Physical inactivity caused by cancer treatment or the cancer itself, dietary restrictions, and the frequent use of antibiotics may also be risk factors for metabolic syndrome. Since childhood cancer survivors with metabolic syndrome have higher risks of cardiovascular events at an earlier age, early interventions should be considered. The optimal timing of interventions and drug use has not been established, but lifestyle modifications and exercise interventions that begin during cancer treatment might be beneficial and tailored education and interventions that account for individual patients' circumstances are needed. This review evaluates the recent literature that describes metabolic syndrome in cancer survivors, with a focus on its pathophysiology. PMID:28690985

  9. Childhood acne in a boy with XYY syndrome.

    PubMed

    Kasparis, Christos; Loffeld, Annette

    2014-01-06

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome.

  10. Childhood acne in a boy with XYY syndrome

    PubMed Central

    Kasparis, Christos; Loffeld, Annette

    2014-01-01

    A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome. PMID:24395875

  11. Parental Perceptions of Siblings' Grieving after a Childhood Cancer Death: A Longitudinal Study

    ERIC Educational Resources Information Center

    Barrera, Maru; Alam, Rifat; D'Agostino, Norma Mammone; Nicholas, David B.; Schneiderman, Gerald

    2013-01-01

    We investigated longitudinally parental perceptions of siblings' bereavement after childhood cancer death. Parents were interviewed 6 months (n = 25) and 18 months (n = 15) post-death. Data are analyzed combined and over time. The following themes emerged: (a) expression of grief: missing deceased child (verbally, crying), behavioral problems,…

  12. Parental Perceptions of Siblings' Grieving after a Childhood Cancer Death: A Longitudinal Study

    ERIC Educational Resources Information Center

    Barrera, Maru; Alam, Rifat; D'Agostino, Norma Mammone; Nicholas, David B.; Schneiderman, Gerald

    2013-01-01

    We investigated longitudinally parental perceptions of siblings' bereavement after childhood cancer death. Parents were interviewed 6 months (n = 25) and 18 months (n = 15) post-death. Data are analyzed combined and over time. The following themes emerged: (a) expression of grief: missing deceased child (verbally, crying), behavioral problems,…

  13. The Childhood Asperger Syndrome Test (Cast): Test--Retest Reliability

    ERIC Educational Resources Information Center

    Williams, Jo; Allison, Carrie; Scott, Fiona; Stott, Carol; Bolton, Patrick; Baron-Cohen, Simon; Brayne, Carol

    2006-01-01

    The Childhood Asperger Syndrome Test (CAST) is a 37-item parental self-completion questionnaire to screen for autism spectrum conditions in research. Good test accuracy was demonstrated in studies with primary school aged children in mainstream schools. The aim of this study was to investigate the test-retest reliability of the CAST. Parents of…

  14. Sudden Death Due to Undiagnosed Wilkie Syndrome.

    PubMed

    Baber, Yeliena Fay; OʼDonnell, Chris

    2016-06-01

    A 56-year-old transgender woman with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome and diabetes presented to hospital with headaches and experiencing with malnutrition. She was agitated and refused medical and physical assistance. Soon after admission, she started to vomit and developed abdominal pain, becoming rapidly unresponsive on the ward after attending the radiology department, and was pronounced deceased. Autopsy revealed a cachectic transgender woman with a grossly distended stomach and proximal duodenum containing 2 L of liquid. The postmortem computed tomography scan showed compression of the duodenum by the superior mesenteric artery, diagnostic of Wilkie syndrome. Superior mesenteric artery syndrome, or Wilkie syndrome, was first described in 1861 by Von Rokitansky. It is an uncommon but well-recognized clinical entity characterized by compression of the third, or transverse, portion of the duodenum between the aorta and the superior mesenteric artery. This results in chronic, intermittent, or acute complete or partial duodenal obstruction. It is a well-recognized complication of anorexia.

  15. Parental socioeconomic status and unintentional injury deaths in early childhood: consideration of injury mechanisms, age at death, and gender.

    PubMed

    Hong, Juhee; Lee, Boeun; Ha, Eun Hee; Park, Hyesook

    2010-01-01

    The aim of this study was to determine whether the socioeconomic status (SES) of parents influences early childhood unintentional injury deaths for different injury mechanisms and the gender and age at death of the child. Study design is a population-based retrospective study. Death certificate data from 1995 to 2004 were linked to birth certificate data from 1995 to 1996 for each child who died when aged < or = 8 years. Parental age, birth order, marital status, residence area, educational level, and occupation were used as indices for SES. Cox proportional-hazards analysis was employed. Our results indicate that nonmetropolitan residence, low parental education level, and a father working in a nonadministrative job or as a farmer were associated with a higher risk of death from injury for both boys and girls. A mother aged younger than 20 years and parents working in manual jobs were associated with a higher risk in boys only. The risks of some socioeconomic factors (low parental education and a father working in a manual job or as a farmer) were evident for children aged 1-4 years. The risks of rural residency tended to increase in older children, and the risk of injury from having a mother aged younger than 20 years increased for younger children. The risks of childhood injury deaths from traffic accidents, falls, and fire/burns were associated with the SES of the parents. Younger parents were associated with higher risks of injury deaths from traffic accidents (hazard ratio [HR]: father, 7.9; mother, 1.9) and falls (HR: father, 2.0; mother, 2.5). A father working as a farmer was associated with a higher risk of childhood injury death from fire/burns (HR = 4.0). In conclusion, the parental SES risk profiles of childhood injury deaths varied with the age and gender of the child, and with the injury mechanism. Therefore, reducing excess injury deaths during early childhood requires preventive efforts targeted at high-risk parents, and based on injury mechanism

  16. Childhood Bereavement: Psychopathology in the 2 Years Postparental Death

    ERIC Educational Resources Information Center

    Cerel, Julie; Fristad, Mary A.; Verducci, Joseph; Weller, Ronald A.; Weller, Elizabeth B.

    2006-01-01

    Objective: Although the death of a parent is one of the most significant stressors a child can experience, the psychiatric sequelae of parental death are not fully understood. Method: A total of 360 parent-bereaved children (ages 6-17) and their surviving parents were directly interviewed four times during the first 2 years following the death (at…

  17. A Catalog of Genetic Syndromes in Childhood Cancer.

    PubMed

    Zimmerman, Rheanne; Schimmenti, Lisa; Spector, Logan

    2015-12-01

    Genetic syndromes and pediatric cancers are rare, so instances of co-occurrence raise the question of whether the two conditions may be etiologically linked. Clear examples of causal association can be found in the cancer predisposition syndromes. This report contains the results of a systematic literature search using Ovid Medline for co-occurrence of genetic syndromes with 23 types of pediatric cancer. The results reflect known associations as well as many reports of infrequently observed co-occurrences. This compilation may suggest previously overlooked patterns, and the information could be used to identify gene pathways critical in the development of childhood cancers. © 2015 Wiley Periodicals, Inc.

  18. Cardiac abnormalities and sudden infant death syndrome.

    PubMed

    Sweeting, Joanna; Semsarian, Christopher

    2014-12-01

    Many factors have been implicated in SIDS cases including environmental influences such as sleeping arrangements and smoking. Most recently, cardiac abnormalities have been hypothesised to play a role in some cases, particularly the primary genetic arrhythmogenic disorders such as familial long QT syndrome (LQTS). Both post-mortem and clinical studies of SIDS cases have provided supporting evidence for the involvement of cardiac genetic disorders in SIDS. This review provides a summary of this evidence focussing particularly on the primary hypothesis related to underlying familial LQTS. In addition, the current literature relating to other cardiac genetic conditions such as Brugada syndrome (BrS) and structural heart diseases such as hypertrophic cardiomyopathy (HCM) is briefly presented. Finally, the implications of a possible cardiac genetic cause of SIDS is discussed with reference to the need for genetic testing in SIDS cases and subsequent clinical and genetic testing in family members.

  19. [Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)].

    PubMed

    Corrias, A; Nurchi, A M; Rossi, G; Sorcinelli, R; Pusceddu, G; Corda, R

    1985-01-01

    Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome. These tests resulted negative. Differential diagnosis was considered in relation to other conditions which present a characteristic symptomatology similar to Kinsbourne's syndrome. Synthetic ACTH (Synacthen) treatment produced a regression of the clinical symptoms. Based on the examinations carried out, which always resulted negative even after 36 months, and on the drug dependence, the present case was diagnosed as primitive opsoclonus.

  20. Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.

    PubMed

    Gibson, Todd M; Ehrhardt, Matthew J; Ness, Kirsten K

    2016-04-01

    Treatment-related obesity and the metabolic syndrome in adult survivors of childhood acute lymphoblastic leukemia (ALL) are risk factors for cardiovascular disease. Both conditions often begin during therapy. Preventive measures, including dietary counseling and tailored exercise, should be initiated early in the course of survivorship, with referral to specialists to optimize success. However, among adults who develop obesity or the metabolic syndrome and who do not respond to lifestyle therapy, medical intervention may be indicated to manage underlying pathology, such as growth hormone deficiency, or to mitigate risk factors of cardiovascular disease. Because no specific clinical trials have been done in this population to treat metabolic syndrome or its components, clinicians who follow adult survivors of childhood ALL should use the existing American Heart Association/National Heart Lung and Blood Institute Scientific Statement to guide their approach.

  1. Long-term Outcomes of Childhood Onset Nephrotic Syndrome

    PubMed Central

    Hjorten, Rebecca; Anwar, Zohra; Reidy, Kimberly Jean

    2016-01-01

    There are limited studies on long-term outcomes of childhood onset nephrotic syndrome (NS). A majority of children with NS have steroid-sensitive nephrotic syndrome (SSNS). Steroid-resistant nephrotic syndrome (SRNS) is associated with a high risk of developing end-stage renal disease. Biomarkers and analysis of genetic mutations may provide new information for prognosis in SRNS. Frequently relapsing and steroid-dependent NS is associated with long-term complications, including dyslipidemia, cataracts, osteoporosis and fractures, obesity, impaired growth, and infertility. Long-term complications of SSNS are likely to be under-recognized. There remain many gaps in our knowledge of long-term outcomes of childhood NS, and further study is indicated. PMID:27252935

  2. Long-term Outcomes of Childhood Onset Nephrotic Syndrome.

    PubMed

    Hjorten, Rebecca; Anwar, Zohra; Reidy, Kimberly Jean

    2016-01-01

    There are limited studies on long-term outcomes of childhood onset nephrotic syndrome (NS). A majority of children with NS have steroid-sensitive nephrotic syndrome (SSNS). Steroid-resistant nephrotic syndrome (SRNS) is associated with a high risk of developing end-stage renal disease. Biomarkers and analysis of genetic mutations may provide new information for prognosis in SRNS. Frequently relapsing and steroid-dependent NS is associated with long-term complications, including dyslipidemia, cataracts, osteoporosis and fractures, obesity, impaired growth, and infertility. Long-term complications of SSNS are likely to be under-recognized. There remain many gaps in our knowledge of long-term outcomes of childhood NS, and further study is indicated.

  3. Obesity and Metabolic Syndrome among Adult Survivors of Childhood Leukemia

    PubMed Central

    Gibson, Todd M.; Ehrhardt, Matthew J.; Ness, Kirsten K.

    2016-01-01

    Opinion statement Treatment-related obesity and the metabolic syndrome in adult survivors of childhood acute lymphoblastic leukemia (ALL) are risk factors for cardiovascular disease. Both conditions often begin during therapy. Preventive measures, including dietary counseling and tailored exercise should be initiated early in the course of survivorship, with referral to specialists to optimize success. However, among adults who develop obesity or the metabolic syndrome and who do not respond to lifestyle therapy, medical intervention may be indicated to manage underlying pathology, such as growth hormone deficiency, or to mitigate risk factors of cardiovascular disease. Because no specific clinical trials have been done in this population to treat metabolic syndrome or its components, clinicians who follow adult survivors of childhood ALL should use the existing American Heart Association/National Heart Lung and Blood Institute Scientific Statement to guide their approach. PMID:26951206

  4. Episodic Syndromes That May Be Associated With Migraine: A.K.A. "the Childhood Periodic Syndromes".

    PubMed

    Gelfand, Amy A

    2015-01-01

    Previously called "childhood periodic syndromes that are commonly precursors of migraine" in International Headache Classification of Headache Disorders (ICHD)-II, these disorders were renamed "episodic syndromes that may be associated with migraine" in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine, and cyclical vomiting syndrome, as well as infantile colic, which was recently added under the appendix section in ICHD-III beta.

  5. Detection of sudden death syndrome using a multispectral imaging sensor

    USDA-ARS?s Scientific Manuscript database

    Sudden death syndrome (SDS), caused by the fungus Fusarium solani f. sp. glycines, is a widespread mid- to late-season disease with distinctive foliar symptoms. This paper reported the development of an image analysis based method to detect SDS using a multispectral image sensor. A hue, saturation a...

  6. Sudden Infant Death Syndrome, FY 1983. Special Report to Congress.

    ERIC Educational Resources Information Center

    National Inst. of Child Health and Human Development (NIH), Bethesda, MD.

    This report describes research programs focusing on the sudden infant death syndrome (SIDS) and indicates some presently available results. Specific attention is given to research on sleep apnea, respiratory control, and hypoxia, as well as to infectious disease processes and immunology. Findings of a large-scale multidisciplinary SIDS project are…

  7. [Recurrent fetal death and antiphospholipid antibody syndrome. A case report].

    PubMed

    Rojas-Poceros, G; Ramírez Peredo, J; Hernández Andrade, E; Bustos López, H H

    1997-12-01

    Antiphospholipid Antibodies has been associated with severe maternal and fetal sequels, like recurrent miscarriage, death, intrauterine growth retardation, pregnancy-induced hypertensive disease, thromboembolic phenomena and thrombocytopenia. Pathogenesis has been explained reporting that IgG from women with antiphospholipid antibodies increases placenta thromboxane production without affecting prostacyclin production, which conducts to thrombosis of placenta uterus junction. In 1982, it was suggested for the first time low doses of aspirin and prednisone for treatment of recurrent fetal death associated to this syndrome, heparin therapy was reported in 1984, recommended a doses of 15,000 U/day during first pregnancy trimester and 20,000 U/day posteriorly. The objective of this report, is the description a clinic case of a patient with recurrent fetal death and antiphospholipid antibodies syndrome, discussing a prenatal and obstetric treatment model, including diagnosis and final therapeutic, which includes the participation of some other specialists, the national experience in diagnosis and treatment is initial, and also because it has been reported a rate of fetal death in those patient with no treatment, almost of 90%. The importance of identify this syndrome is not based on its prevalence but on its maternal complications and that it is a cause of fetal death potentially treatable.

  8. [Infant botulism and sudden infant death syndrome].

    PubMed

    Bartram, U; Singer, D

    2004-01-01

    Infant botulism represents a distinct entity of botulism. Ingestion of the ubiquitously present spores of Clostridium botulinum leads to germination of the organism and neurotoxin production in the infant intestine. Symptoms typically develop gradually in contrast to classical food botulism in which an acute onset of symptoms shortly after the ingestion of preformed toxin in a food is characteristic. Microbiologically, the diagnosis is established by identification of Clostridium botulinum organism and toxin in stool specimen. However, positive results in these tests provide only indirect evidence for the clinical relevance of the neurotoxin since asymptomatic carriers have been found. The toxin irreversibly blocks the release of acetylcholin from the motoric end plate which results in muscle weakness and paralysis. Depending on the amount of toxin produced, infant botulism exhibits a broad clinical spectrum ranging from oligosymptomatic forms to a fulminant course with acute respiratory failure within hours leading to sudden death. Unrecognized mild forms or beginning muscle weakness can be a co-factor for other risk factors of sudden infant death (SIDS). In studies analyzing infants who died from SIDS, botulism bacteria or toxin were found in up to 20 % of cases. Infant botulism therefore represents an important differential diagnosis of unexplained and inconclusive muscular hypotonia in the first year of life.

  9. Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

    PubMed Central

    2012-01-01

    The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype. PMID:23304551

  10. The metabolic syndrome and body composition in childhood cancer survivors

    PubMed Central

    Sohn, Young Bae; Kim, Su Jin; Park, Sung Won; Kim, Se-Hwa; Cho, Sung-Yoon; Lee, Soo Hyun; Yoo, Keon Hee; Sung, Ki Woong; Chung, Jae Hoon; Koo, Hong Hoe

    2011-01-01

    Purpose Long-term survivors of childhood cancer appear to have an increased risk for the metabolic syndrome, subsequent type 2 diabetes and cardiovascular disease in adulthood compared to healthy children. The purpose of this study was to investigate the frequency of the metabolic syndrome and associated factors in childhood cancer survivors at a single center in Korea. Methods We performed a retrospective review of medical records of 98 childhood cancer survivors who were diagnosed and completed anticancer treatment at Samsung Medical Center, Seoul, Korea between Jan. 1996 and Dec. 2007. Parameters of metabolic syndrome were evaluated between Jan. 2008 and Dec. 2009. Clinical and biochemical findings including body fat percentage were analyzed. Results A total of 19 (19.4%) patients had the metabolic syndrome. The median body fat percentage was 31.5%. The body mass index and waist circumference were positively correlated with the cranial irradiation dose (r=0.38, P<0.001 and r=0.44, P<0.00, respectively). Sixty-one (62.2%) patients had at least one abnormal lipid value. The triglyceride showed significant positive correlation with the body fat percentage (r=0.26, P=0.03). The high density lipoprotein cholesterol showed significant negative correlation with the percent body fat (r=-0.26, P=0.03). Conclusion Childhood cancer survivors should have thorough metabolic evaluation including measurement of body fat percentage even if they are not obese. A better understanding of the determinants of the metabolic syndrome during adolescence might provide preventive interventions for improving health outcomes in adulthood. PMID:21949520

  11. Early Parental Adjustment and Bereavement after Childhood Cancer Death

    ERIC Educational Resources Information Center

    Barrera, Maru; O'connor, Kathleen; D'Agostino, Norma Mammone; Spencer, Lynlee; Nicholas, David; Jovcevska, Vesna; Tallet, Susan; Schneiderman, Gerald

    2009-01-01

    This study comprehensively explored parental bereavement and adjustment at 6 months post-loss due to childhood cancer. Interviews were conducted with 18 mothers and 13 fathers. Interviews were transcribed verbatim and analyzed based on qualitative methodology. A model describing early parental bereavement and adaptation emerged with 3 domains:…

  12. Early Parental Adjustment and Bereavement after Childhood Cancer Death

    ERIC Educational Resources Information Center

    Barrera, Maru; O'connor, Kathleen; D'Agostino, Norma Mammone; Spencer, Lynlee; Nicholas, David; Jovcevska, Vesna; Tallet, Susan; Schneiderman, Gerald

    2009-01-01

    This study comprehensively explored parental bereavement and adjustment at 6 months post-loss due to childhood cancer. Interviews were conducted with 18 mothers and 13 fathers. Interviews were transcribed verbatim and analyzed based on qualitative methodology. A model describing early parental bereavement and adaptation emerged with 3 domains:…

  13. Preventive Opportunities in Childhood Bereavement. (Death of a Parent Study).

    ERIC Educational Resources Information Center

    Kliman, Gilbert

    This lecture to clergymen presents a discussion of childhood bereavement and possible long-term psychological effects. A correlation between the loss of a parent and later-life mental illness is suggested, as well as the need to look closely at children's unique ways of grieving. The clergyman's role in helping bereaved families is emphasized.…

  14. Laryngeal inflammation in the sudden infant death syndrome.

    PubMed

    Scadding, Glenis K; Brock, Christine; Chouiali, Fazila; Hamid, Qutayaba

    2014-01-01

    Sudden infant death syndrome (SIDS) is marked by 'the sudden death of an infant that is unexpected by history and remains unexplained after a thorough forensic autopsy and a detailed death scene investigation'. The cause is unknown. Excessive subglottic submucosal glandular tissue and excessive sulphated mucus glycoprotein in the larynges of SIDS babies have been previously reported from our institution. We now report on laryngeal immunohistology. Larynges from 7 children who died from Sudden Infant Death Syndrome (SIDS) at under 16 weeks of age were examined immunohistologically and compared to those from 8 age- matched control infants who died from other causes. The SIDS babies had increased inflammatory changes in the laryngeal epithelium and sub- epithelium with raised numbers of cells staining for elastase (p<0.01), EG2(a marker for activated eosinophils) (p<0.01) and CD4(p<0.05) suggesting that some SIDS deaths involve preceding inflammation. Although death may be sudden and unexpected it appears that, at least in some SIDS victims, there is a preceding inflammatory process in the larynx which may allow hyper-reactivity of laryngeal reflexes and consequent apnoea. This observation concurs with others in the SIDS literature and offers a field for further research and possible prevention.

  15. Sudden Unexplained Nocturnal Death Syndrome in Central China (Hubei)

    PubMed Central

    Chen, Zhenglian; Mu, Jiao; Chen, Xinshan; Dong, Hongmei

    2016-01-01

    Abstract A retrospective study was conducted at Tongji Forensic Medical Center in Hubei (TFMCH) from 1999 to 2014. Forty-nine cases of sudden unexplained nocturnal death syndrome (SUNDS) were collected. The SUNDS rate was 1.0% in the total number of cases, in which an incidence was fluctuating over the years. Interestingly, April and January, and 3:00 to 6:00 am were the peak months and times of death. Among the decedents, farmers and migrant workers accounted for 67.3%. The syndrome predominantly attacked males in their 30s. One victim had sinus tachycardia. Thirteen victims (26.5%) were witnessed and had abnormal symptoms near death. Macroscopically, compared to sudden noncardiac deaths, the weights of brain, heart, and lungs had no statistical difference in SUNDS. Microscopically, the incidence of lung edema (45 cases, 91.8%) was significantly higher in SUNDS group than in the control group (27 cases, 55.1%). 82.9% of 35 SUNDS cases examined displayed minor histological anomalies of the cardiac conduction system (CCS), including mild or moderate fatty, fibrous or fibrofatty tissue replacement, insignificant stenosis of node artery, and punctate hemorrhage in the node area. These findings suggested that minor CCS abnormalities might be the substrates for some SUNDS deaths. Therefore, SUNDS victims might suffer ventricular fibrillation and acute cardiopulmonary failure before death. Further in-depth studies are needed to unveil the underlying mechanisms of SUNDS. PMID:26945374

  16. Nutritional and Exercise Aspects of Prader-Willi Syndrome and Childhood Obesity

    DTIC Science & Technology

    2013-02-01

    Prader - Willi Syndrome and Childhood Obesity PRINCIPAL INVESTIGATOR: Daniela A. Rubin, Ph.D. CONTRACTING ORGANIZATION: California State...To) 1 February 2012–31 January 2013 4. TITLE AND SUBTITLE Nutritional and Exercise Aspects of Prader - Willi Syndrome and Childhood Obesity... Prader - Willi syndrome (PWS) is the best characterized genetic cause of obesity. To date, two major nutritional phases are identified. Exercise, a

  17. The brainstem and serotonin in the sudden infant death syndrome.

    PubMed

    Kinney, Hannah C; Richerson, George B; Dymecki, Susan M; Darnall, Robert A; Nattie, Eugene E

    2009-01-01

    The sudden infant death syndrome (SIDS) is the sudden death of an infant under one year of age that is typically associated with sleep and that remains unexplained after a complete autopsy and death scene investigation. A leading hypothesis about its pathogenesis is that many cases result from defects in brainstem-mediated protective responses to homeostatic stressors occurring during sleep in a critical developmental period. Here we review the evidence for the brainstem hypothesis in SIDS with a focus upon abnormalities related to the neurotransmitter serotonin in the medulla oblongata, as these are the most robust pathologic findings to date. In this context, we synthesize the human autopsy data with genetic, whole-animal, and cellular data concerning the function and development of the medullary serotonergic system. These emerging data suggest an important underlying mechanism in SIDS that may help lead to identification of infants at risk and specific interventions to prevent death.

  18. The Brainstem and Serotonin in the Sudden Infant Death Syndrome

    PubMed Central

    Kinney, Hannah C.; Richerson, George B.; Dymecki, Susan M.; Darnall, Robert A.; Nattie, Eugene E.

    2012-01-01

    The sudden infant death syndrome (SIDS) is the sudden death of an infant under one year of age that is typically associated with sleep and that remains unexplained after a complete autopsy and death scene investigation. A leading hypothesis about its pathogenesis is that many cases result from defects in brainstem-mediated protective responses to homeostatic stressors occurring during sleep in a critical developmental period. Here we review the evidence for the brainstem hypothesis in SIDS with a focus upon abnormalities related to the neurotransmitter serotonin in the medulla oblongata, as these are the most robust pathologic findings to date. In this context, we synthesize the human autopsy data with genetic, whole-animal, and cellular data concerning the function and development of the medullary serotonergic system. These emerging data suggest an important underlying mechanism in SIDS that may help lead to identification of infants at risk and specific interventions to prevent death. PMID:19400695

  19. Metabolic syndrome and diabetes mellitus in childhood cancer survivors.

    PubMed

    Bizzarri, C; Bottaro, G; Pinto, R M; Cappa, M

    2014-06-01

    The survival of children with cancer has grown considerably in recent years resulting in a marked increase of endocrine complications. increasingly recognized problems are metabolic syndrome and diabetes mellitus. We critically analysed the most recent literature about the prevalence and molecular mechanisms of metabolic dysregulation and long-term cardio-metabolic risk in this population. Hypothalamic irradiation determines growth hormone deficiency and hypogonadism; moreover it is able to disrupt the appetite regulating centre leading to hyperphagia and progressive obesity. These conditions determine an insulin resistant state, contributing to the development of metabolic syndrome and diabetes mellitus. Irradiation and/or chemotherapy may lead to an insulin secretory defect through a direct damage of pancreatic beta cells. Metabolic syndrome and diabetes mellitus represent increasingly recognized long-term complications of childhood cancer treatment. The different impact of insulin resistance and secretory defects on the onset and progression of metabolic syndrome and diabetes mellitus remains unclear.

  20. Harlequin syndrome in childhood - Case report*

    PubMed Central

    Breunig, Juliano de Avelar; Hartmann, Mariana; Freire, Cristiano Firpo; de Almeida Jr, Hiram Larangeira

    2012-01-01

    Harlequin syndrome happens in only one side of the face. In the affected half, the face does not sweat or flush even with simulation. Arms and trunk could also be affected. This condition is induced by heat, exercise and emotional factors. The article reports a case of a nine-year-old female with a 3-year history of unilateral flushing and sweating after exercise; a brief literature review is included. Despite the rarity of this syndrome, dermatologists should recognize this condition and refer these patients to ophthalmological and neurological examination. PMID:23197213

  1. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    ERIC Educational Resources Information Center

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

    RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

  2. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    ERIC Educational Resources Information Center

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

    RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…

  3. Gianotti-Crosti syndrome following childhood vaccinations.

    PubMed

    Retrouvey, Michele; Koch, Laine H; Williams, Judith V

    2013-01-01

    A 19-month-old boy was evaluated for a skin eruption after recent vaccinations. Clinical and histopathologic findings supported a diagnosis of Gianotti-Crosti syndrome (GCS). This case report examines the link between GCS and vaccinations, particularly the diphtheria, tetanus, and pertussis vaccine and the varicella virus live vaccine. © 2011 Wiley Periodicals, Inc.

  4. Periodic fevers and autoinflammatory syndromes in childhood.

    PubMed

    Ostring, Genevieve T; Singh-Grewal, Davinder

    2016-09-01

    Recurrent fever is a common presentation in paediatric practice and can be caused by a wide variety of diseases including autoinflammatory conditions. The innate immune system plays an essential role in the 'first line' response to infection through mediation of inflammatory responses. Inflammasomes are part of the regulatory process for this system and result in the production of the powerful pro-inflammatory cytokine interleukin-1B. Dysregulation of inflammasomes, and Interleukin 1 production, contributes to the pathogenesis of autoinflammatory diseases. This review focuses on described periodic fever syndromes (PFS) which are now collectively referred to as autoinflammatory syndromes. Conditions discussed include periodic fever aphthous stomatitis pharyngitis and cervical adenopathy, familial Mediterranean fever, tumour necrosis factor receptor-associated periodic syndromes, hyperimmunoglobulinaemia D and the cryopyrin-associated periodic syndromes. Presenting features, complications, diagnostic and treatment approaches for these conditions are discussed. Nonetheless, as most of these conditions are rare and may have significant long-term complications, it is recommended that they be managed in consultations with a physician experienced in managing PFS.

  5. [Sudden death in intermittent Wolff Parkinson White syndrome].

    PubMed

    Medeiros, A; Iturralde, P; Guevara, M; Mendoza, C; Colín, L

    2001-01-01

    Sudden death is a rare condition in asymptomatic patients with asymptomatic intermittent Wolff Parkinson syndrome (WPW); for this reason it is believed that these patients should not undergo to radiofrequency ablation. We report an asymptomatic 44 year old man who developed ventricular fibrillation with a pre-excited RR interval less than 200 msec during atrial fibrillation, as a first manifestation of WPW syndrome. The Holter monitoring showed intermittent pre-excitation at low heart rate (70 bpm). During the electrophysiological study a successfully radiofrequency catheter ablation of a right posteroseptal accessory pathway was performed. We concluded that intermittent pre-excitation may not be used to identify patients who are at risk of sudden death. Radiofrequency catheter ablation should be recommended in those patients with a very high success rate, and a low incidence of serious complications.

  6. Recommendations for sudden infant death syndrome prevention: a discussion document.

    PubMed

    Mitchell, E A

    2007-02-01

    This article reviews the evidence for the current UK Department of Health recommendations for prevention of sudden infant death syndrome (SIDS) and suggests other factors that should be considered. The wording of the Department of Health recommendations for SIDS prevention has changed over the past 6 years, but the specific recommendations are largely consistent with the scientific evidence. The emphasis on thermal and illness factors and immunisation could be reduced. Bed sharing and sharing the parental bedroom should be given more emphasis. Two major recommendations need to be discussed in greater detail: (1) breast feeding and (2) pacifier use. Meta-analyses or reviews looking at each risk factor or a combination of risk factors are required. Further, it is recommended that a committee is established that reviews the recommendations and publishes the evidence that leads to these recommendations, as is done by the American Academy of Pediatrics Taskforce on Sudden Infant Death Syndrome.

  7. Melatonin concentrations in the sudden infant death syndrome

    NASA Technical Reports Server (NTRS)

    Sturner, W. Q.; Lynch, H. J.; Deng, M. H.; Gleason, R. E.; Wurtman, R. J.

    1990-01-01

    The melatonin levels in various body fluids of the sudden infant death syndrome (SIDS) infants are compared with those of infants of comparable age who died of other causes to examine a possible relationship between pineal function and SIDS. After adjusting for age differences, cerebrospinal fluid melatonin levels are found to be significantly lower in the SIDS infants. It is suggested that diminished melatonin production may be characteristic of SIDS and could represent an impairment in the maturation of physiologic circadian organization.

  8. A Teenager Revisits Her Father's Death during Childhood: A Study in Resilience and Healthy Mourning

    ERIC Educational Resources Information Center

    Hurd, Russell C.

    2004-01-01

    "Debbie," 14, was 8 when her father died. During 4 interviews over 3 months, Debbie described the impact of his death as she progressed from childhood to adolescence. Themes drawn from her experience were related to theories of development, bereavement, and resilience. Triangulating interviews with her mother and brother established validity.…

  9. A Teenager Revisits Her Father's Death during Childhood: A Study in Resilience and Healthy Mourning

    ERIC Educational Resources Information Center

    Hurd, Russell C.

    2004-01-01

    "Debbie," 14, was 8 when her father died. During 4 interviews over 3 months, Debbie described the impact of his death as she progressed from childhood to adolescence. Themes drawn from her experience were related to theories of development, bereavement, and resilience. Triangulating interviews with her mother and brother established validity.…

  10. Parental Divorce or Death During Childhood and Adolescence and Its Association With Mental Health.

    PubMed

    Tebeka, Sarah; Hoertel, Nicolas; Dubertret, Caroline; Le Strat, Yann

    2016-09-01

    Despite the severity of the loss of a parent and the frequency of parental divorce, few studies compared their impact on mental health in the general adult population. The aim of this study was to estimate the prevalence, sociodemographic correlates, and psychiatric comorbidity of parental loss and parental divorce during childhood and adolescence. Data were drawn from the National Epidemiologic Survey on Alcohol and Related Conditions, a nationally representative sample of US adults (n = 43,093). Of the 43,093 participants, parental divorce during childhood or adolescence was reported by 5776 participants, whereas 3377 experienced parental death during childhood or adolescence. Participants reporting a history of parental divorce present a significantly higher prevalence of psychiatric disorders, particularly alcohol and drug use disorders compared with control subjects. While participants experiencing the death of a parent reported a poorer overall health, the prevalence of psychiatric disorder after 17 years of age was not significantly higher than that of the control subjects.

  11. Autoantibodies in childhood opsoclonus-myoclonus syndrome.

    PubMed

    Blaes, F; Pike, M G; Lang, B

    2008-09-15

    Opsoclonus-myoclonus syndrome or Dancing Eye Syndrome (OMS/DES) is a rare neurological disorder of children, which associates with neuroblastoma (NB) in approximately 50% of cases. We examined sera from five patients with (OMS-NB(+)) and five without NB (OMS-NB(-)) for autoantibodies. OMS-NB(-) IgG bound to the surface of a NB cell line, whereas IgG from OMS-NB(+) and from NB patients without OMS/DES bound only to permeabilised cells. Both OMS-NB(+) and OMS-NB(-) reduced proliferation of NB cells. We also present a case report of a child with OMS/DES without NB who made a complete recovery without treatment. Serum antibodies at presentation bound to the surface and decreased NB cell proliferation but had decreased 9 weeks later when the child was asymptomatic. These results demonstrate that sera from some OMS/DES patients contain IgG antibodies that are potentially pathogenic.

  12. Hypereosinophilic syndrome causing acute hemiplegia in childhood.

    PubMed

    Noureen, Nuzhat; Rana, Muhammad Tariq

    2008-06-01

    Hypereosinophilic syndrome (HES) is a rare heterogeneous group of disorders, characterized by marked peripheral blood and tissue eosinophilia resulting in end organ damage. This case describes a six-year-old girl child who presented with sudden weakness of right half of body and fever. Computed tomogram of brain showed infarction of left internal capsule and basal ganglia. She had peripheral and bone marrow eosinophilia. No other cause was found for infarction.

  13. Deaths Due to Choking in Prader-Willli Syndrome

    PubMed Central

    Stevenson, David A.; Heinemann, Janalee; Angulo, Moris; Butler, Merlin G.; Loker, Jim; Rupe, Norma; Kendell, Patrick; Clericuzio, Carol L.; Scheimann, Ann O.

    2011-01-01

    Prader-Willi syndrome (PWS) is the most common known syndromic cause of life threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3–52y; median 22.5y) at death from choking. Only two of these individuals were less than eight years of age. The data suggest that risks associated with choking are different in the PWS population compared with normal. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation and diet modification to avoid high risk choking items. PMID:17036318

  14. Learning about Life and Death in Early Childhood

    ERIC Educational Resources Information Center

    Slaughter, Virginia; Lyons, Michelle

    2003-01-01

    Inagaki and Hatano (2002) have argued that young children initially understand biological phenomena in terms of vitalism, a mode of construal in which "life" or "life-force" is the central causal-explanatory concept. This study investigated the development of vitalistic reasoning in young children's concepts of life, the human body and death.…

  15. Learning about Life and Death in Early Childhood

    ERIC Educational Resources Information Center

    Slaughter, Virginia; Lyons, Michelle

    2003-01-01

    Inagaki and Hatano (2002) have argued that young children initially understand biological phenomena in terms of vitalism, a mode of construal in which "life" or "life-force" is the central causal-explanatory concept. This study investigated the development of vitalistic reasoning in young children's concepts of life, the human body and death.…

  16. Mortality after Parental Death in Childhood: A Nationwide Cohort Study from Three Nordic Countries

    PubMed Central

    Li, Jiong; Vestergaard, Mogens; Cnattingius, Sven; Gissler, Mika; Bech, Bodil Hammer; Obel, Carsten; Olsen, Jørn

    2014-01-01

    Background Bereavement by spousal death and child death in adulthood has been shown to lead to an increased risk of mortality. Maternal death in infancy or parental death in early childhood may have an impact on mortality but evidence has been limited to short-term or selected causes of death. Little is known about long-term or cause-specific mortality after parental death in childhood. Methods and Findings This cohort study included all persons born in Denmark from 1968 to 2008 (n = 2,789,807) and in Sweden from 1973 to 2006 (n = 3,380,301), and a random sample of 89.3% of all born in Finland from 1987 to 2007 (n = 1,131,905). A total of 189,094 persons were included in the exposed cohort when they lost a parent before 18 years old. Log-linear Poisson regression was used to estimate mortality rate ratio (MRR). Parental death was associated with a 50% increased all-cause mortality (MRR = 1.50, 95% CI 1.43–1.58). The risks were increased for most specific cause groups and the highest MRRs were observed when the cause of child death and the cause of parental death were in the same category. Parental unnatural death was associated with a higher mortality risk (MRR = 1.84, 95% CI 1.71–2.00) than parental natural death (MRR = 1.33, 95% CI 1.24–1.41). The magnitude of the associations varied according to type of death and age at bereavement over different follow-up periods. The main limitation of the study is the lack of data on post-bereavement information on the quality of the parent-child relationship, lifestyles, and common physical environment. Conclusions Parental death in childhood or adolescence is associated with increased all-cause mortality into early adulthood. Since an increased mortality reflects both genetic susceptibility and long-term impacts of parental death on health and social well-being, our findings have implications in clinical responses and public health strategies. Please see later in the article for the Editors

  17. Childhood trauma and metabolic syndrome in men and women.

    PubMed

    Lee, Chioun; Tsenkova, Vera; Carr, Deborah

    2014-03-01

    The long-term effects of childhood trauma on health are well-documented, but few population-based studies have explored how childhood trauma affects the risk of developing metabolic syndrome (MetS) in adulthood. Using data from 1234 adults in the second wave of Midlife in the United States (MIDUS), we investigate (1) the extent to which childhood abuse affects the risk of developing MetS in adulthood; (2) how the severity of different types of abuse (emotional, physical, sexual, or cumulative abuse) affects this risk; and (3) the extent to which adult socioeconomic status (SES), maladaptive stress responses, and unhealthy behaviors mediate the association. We also test whether these associations differ significantly by sex. We find that emotional and physical abuse increase the risk of developing MetS for both sexes, whereas sexual abuse is a predictor for women only. For both sexes, individuals who experienced more cumulative abuse have a greater risk of developing MetS. Adult SES partially explains the association between childhood abuse and MetS. Maladaptive stress responses and unhealthy behaviors further explain the association. Among the potential mediators, poor sleep quality was a significant pathway for men and women, while stress-induced eating was a significant pathway for women only. Our findings suggest that the well-documented health consequences of early life trauma may vary by the nature of the trauma, the victim's sex, and the coping mechanisms that he or she employs. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. SAPHO syndrome in childhood. A case report.

    PubMed

    Vargas Pérez, Manuel; Sevilla Pérez, Belén

    2016-12-16

    The acronym of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) combines a cluster of cutaneous and musculoskeletal manifestations, such as hyperostosis of bones of the anterior chest wall associated with acne fulminans and hidradenitis suppurativa. There are no validated diagnostic criteria in children. Nonsteroidal anti-inflammatory drugs are not always sufficient, and the use of corticosteroids, disease-modifying agents, tumor necrosis factor-α inhibitors or bisphosphonates may be necessary. We present the case of a child with polyarticular involvement, osteoarthritis of the sternoclavicular joint with severe inflammatory disorders and acne conglobata, with an excellent response to intravenous pamidronate. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  19. Sudden infant death syndrome in Japan 1995-1998.

    PubMed

    Fujita, T

    2002-09-14

    This study examined the effects of birth characteristics, which reported on birth certificates, on sudden infant death syndrome (SIDS) based on vital statistics between 1995 and 1998 in Japan. One thousand eight hundred and fifty-nine cases of SIDS and 4,787,537 live births were analyzed. The mortality rate from SIDS was 0.388 SIDS deaths per 1000 live births. Based on multivariate analysis using Poisson regression model, risk factors associated with significantly increased SIDS rates included low birth weight, being a male infant, young maternal age, late birth in multiparity, maternal stillbirth experience, residential region of Kyusyu, Tokai or Hokuriku, and employment status as "unemployed or unknown". However, there was no significant difference between single and multiple birth groups after adjusting other characteristics. A decreasing postnatal age of death was observed as birth weight increased. However, there was no difference in postconceptional age of death between birth weight groups. Preterm infants died of SIDS at a later postnatal age than term infants, but there appeared to be little difference in postconceptional age of death amongst preterm infants. This association between birth characteristics and SIDS were consistent with other studies from western countries, suggesting that recommendations for SIDS in western countries are also applicable for Japan.

  20. Sudden infant death syndrome: risk factor profiles for distinct subgroups.

    PubMed

    Kohlendorfer, U; Kiechl, S; Sperl, W

    1998-05-15

    The authors investigated risk profiles of sudden infant death syndrome (SIDS) as a function of age at death. A case-control study carried out in the Tyrol region of Austria enrolled 99 infants who died of SIDS between 1984 and 1994 and 136 randomly selected controls. Early and late SIDS (< 120 days of age vs. > or = 120 days) were defined according to the clear-cut bimodal age-at-death distribution. Inadequate antenatal care, low parental social and educational level, and the prone sleeping position were risk conditions that applied to both early and late SIDS. A marked seasonal variation (winter preponderance) was the most outstanding feature of late SIDS. A gestational age of < 37 weeks (odds ratio (OR) = 8.4, 95% confidence interval (CI) 2.6-26.0), repeated episodes of apnea (OR = 5.7, 95% CI 1.2-27.0), low birth weight (< 2,500 g) (OR = 3.4, 95% CI 1.1-11.0), a family history of sudden infant death (OR = 2.9, 95% CI 1.1-7.5), and maternal smoking during pregnancy (OR = 2.2, 95% CI 1.0-4.5) were associated with early SIDS. This study identified two distinct subgroups of SIDS infants characterized by different risk conditions and ages at death. These results underline a multiple-cause hypothesis for SIDS etiology which involves a genetic predisposition, immaturity in the first months of life, and environmental factors acting at various ages.

  1. Sudden unexplained death in childhood: A comparison of cases with and without a febrile seizure history.

    PubMed

    Hesdorffer, Dale C; Crandall, Laura A; Friedman, Daniel; Devinsky, Orrin

    2015-08-01

    We considered whether a subset of children with sudden unexplained death in childhood (SUDC) and a history of febrile seizures (FS) may parallel those in sudden unexpected death in epilepsy (SUDEP). The prevalence of a history of FS was examined, and factors that may distinguish SUDC cases with and without FS were described. Characteristics were assessed in 123 consecutive children with SUDC reported to the SUDC program (4/1/11-3/31/14) by their parents. Parental interview covered the decedent's medical history, circumstances of death, environmental factors, cause of death, and family medical history. Features of SUDC cases were compared by FS history. Overall, 31.7% of SUDC cases had a history of FS, among which 74.4% had simple FS. Compared to those without a history of FS, a history of FS was associated with a greater median age at death (p = 0.03) and death during the weekdays (p = 0.02). Terminal fever was similar in those with and without FS. The median time from FS to death was 6.0 months (interquartile range [IQR] 3.0-10.0). In all SUDC cases, prone position at death, death during sleep, and unwitnessed deaths predominated. There are parallels among SUDC, sudden infant deaths, and sudden unexpected death in epilepsy (SUDEP) with regard to prone position, unwitnessed deaths mostly during sleep, and male predominance. In children with SUDC and a history of FS, terminal fever may increase the risk for an unwitnessed terminal seizure. The greater than expected prevalence of a FS history and the proportion with terminal fever or illness in this cohort suggests that some SUDC deaths may be seizure related and therefore have potential commonalities with SUDEP. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  2. Sudden infant death syndrome and activating GNAS1 gene mutations.

    PubMed

    Román, Rossana; López, Patricia; Johnson, María Cecilia; Boric, María Angélica; Gallo, Miriam; Ponce, Carolina; Vargas, Sergio; Codner, Ethel; Cassorla, Fernando

    2007-01-01

    GNAS1 gene mutations cause the McCune-Albright syndrome. Some patients may develop unusual, severe, nonendocrine manifestations that may lead to death. We postulate that some cases of sudden infant death syndrome (SIDS) might be caused by GNAS1 gene mutations affecting vital organs. We studied two GNAS1 gene mutations (R201H and R201C) by allele specific PCR and enzymatic digestion in pulmonary, pancreas, liver, kidney, and heart tissue from 29 infants who suffered SIDS. The infants died at age 96 +/- 78 days. At the time of death, children had a height Z score of -0,04 +/- 0,95, a weight Z score of 0,04 +/- 0,91, and a weight for length Z score of 0,1 +/- 0,83. The molecular study by both techniques did not reveal any GNAS1 mutations in the tissues examined. We conclude that GNAS1 gene mutations do not appear to be present in tissues of infants with SIDS.

  3. The review of autopsy cases of accidental childhood deaths in Istanbul.

    PubMed

    Yayci, Nesime; Pakis, Isil; Karapirli, Mustafa; Celik, Sefa; Uysal, Cem; Polat, Oguz

    2011-08-01

    Children are at increased risk for various causes of injury from accidents. Accidents are, by far, the leading cause of death among children and adolescents. The aim of this study is to evaluate the lethal childhood accidents in İstanbul by age groups. Reports of autopsies performed between 2001 and 2005 in the Morgue Department of the Council of Forensic. Medicine in Istanbul (n :16853) are examined retrospectively. 833 deaths from accidents in children aged 0-18 years are investigated into the study. The parameters of age, gender, types of accidents and causes of death are evaluated. The accidents account for 47.3% of the deaths among children aged 0-18 years. Of 833 cases, 601 (73%) are male and 232 (27%) are female. The female to male ratio is 1/2.6. The highest rate of death from accidents is at the group of 15-18 years. The primary causes of accidental childhood deaths are motor vehicle accidents (23.1%), followed by drowning (20,1%), poisoning (15.7%), and fall from height (15.5%). The incidence and types of trauma vary with socio-economic status and culture. İstanbul, where this study is conducted in, has approximately 3000 autopsy number annually. Therefore, it provides an important database. Copyright © 2011 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

  4. The idiopathic musculoskeletal pain syndromes in childhood.

    PubMed

    Sherry, David D; Malleson, Peter N

    2002-08-01

    Idiopathic musculoskeletal pain syndromes in children have a variety of manifestations; they can be diffuse or well localized, constant or intermittent, with or without autonomic symptoms and signs, completely incapacitating or not limiting activities, and they can tax the physician's diagnostic skill. A careful history and examination is usually all that is needed to make a diagnosis, although the differential diagnosis is large and might require laboratory and radiographic investigation. Pain and functional assessment help track the progress with therapy. Intense exercise therapy is associated with the best outcome. Psychologic issues should be evaluated to determine if further psychologic intervention is indicated. The medium-term outcome is probably good for most of these children, but the long-term prognosis is unknown. One must be aware that other manifestations of psychologic problems might emerge. By the time these children and their families see the rheumatologist they are desperate and can be frustrating to work with due to their difficulty in accepting any kind of psychologic element to the pain and its associated disability. Nevertheless, it is rewarding to help the children understand and work through their pain so they can resume normal lives.

  5. Childhood obesity affects adult metabolic syndrome and diabetes.

    PubMed

    Liang, Yajun; Hou, Dongqing; Zhao, Xiaoyuan; Wang, Liang; Hu, Yuehua; Liu, Junting; Cheng, Hong; Yang, Ping; Shan, Xinying; Yan, Yinkun; Cruickshank, J Kennedy; Mi, Jie

    2015-09-01

    We seek to observe the association between childhood obesity by different measures and adult obesity, metabolic syndrome (MetS), and diabetes. Thousand two hundred and nine subjects from "Beijing Blood Pressure Cohort Study" were followed 22.9 ± 0.5 years in average from childhood to adulthood. We defined childhood obesity using body mass index (BMI) or left subscapular skinfold (LSSF), and adult obesity as BMI ≥ 28 kg/m(2). MetS was defined according to the joint statement of International Diabetes Federation and American Heart Association with modified waist circumference (≥ 90/85 cm for men/women). Diabetes was defined as fasting plasma glucose ≥ 7.0 mmol/L or blood glucose 2 h after oral glucose tolerance test ≥ 11.1 mmol/L or currently using blood glucose-lowering agents. Multiple linear and logistic regression models were used to assess the association. The incidence of adult obesity was 13.4, 60.0, 48.3, and 65.1 % for children without obesity, having obesity by BMI only, by LSSF only, and by both, respectively. Compared to children without obesity, children obese by LSSF only or by both had higher risk of diabetes. After controlling for adult obesity, childhood obesity predicted independently long-term risks of diabetes (odds ratio 2.8, 95 % confidence interval 1.2-6.3) or abdominal obesity (2.7, 1.6-4.7) other than MetS as a whole (1.2, 0.6-2.4). Childhood obesity predicts long-term risk of adult diabetes, and the effect is independent of adult obesity. LSSF is better than BMI in predicting adult diabetes.

  6. A possible explanation of sudden infant death syndrome (SIDS).

    PubMed

    Christos, G A; Christos, J A

    1993-09-01

    Research into (lucid) dreaming has shown that the images of a dream are supported by the corresponding body actions, utilizing those muscles which remain active during dreaming. We suggest that Sudden Infant Death Syndrome (SIDS) or Cot Death may be a result of an infant dreaming about its life as a fetus. In the course of that dream, since a fetus does not breathe in the usual sense, the infant may cease to breathe and die. Our hypothesis is consistent with the known facts about SIDS, including social factors such as sleeping position and climatic variation. We suggest that the risk of SIDS can be reduced by making the environment of the infant, as much as possible, unlike that of the womb.

  7. Causes of death to age 30 in Down syndrome.

    PubMed Central

    Baird, P A; Sadovnick, A D

    1988-01-01

    To look at the underlying cause of death (U.C.O.D.) data for Down syndrome (DS), we studied 324 DS individuals who died out of a total of 1,337 DS births occurring in 1,066,508 consecutive live births during the years 1952-81 inclusive. U.C.O.D. rates, separated into ICD-9 classifications, for the DS population were compared with those of the age-matched general population. In general, an individual with DS is significantly more likely to die than the age-matched general population over all ages studied up to age 30. The greatest absolute likelihood of dying is under 1 year, but the age group with the greatest relative risk of dying (17.2) is very definitely between ages 1-9. In order, the three categories for causes of death in DS with the greatest relative risk are congenital anomalies, circulatory system, and respiratory system. PMID:2970794

  8. Air pollution and sudden infant death syndrome: a literature review.

    PubMed

    Tong, Shilu; Colditz, Paul

    2004-09-01

    Although the rate of sudden infant death syndrome (SIDS) has been reduced with the 'Back to Sleep' campaign, SIDS is still a common cause of death in infancy. A range of environmental factors may interact to contribute to the adverse health conditions conducive to SIDS. Nine studies have evaluated the association between exposure to air pollution and the incidence of SIDS. The available evidence is inadequate to come to any conclusion about a relationship between air pollution and SIDS, although the body of evidence appears to suggest that air pollution (especially particles and some gaseous pollutants) may play a certain role in the occurrence of SIDS. We suggest that future studies should focus on the research design, role of indoor air quality and the effect of smaller particles, particularly those in the ultrafine range.

  9. Seasonal relationship of sudden infant death syndrome and environmental pollutants

    SciTech Connect

    Hoppenbrouwers, T.; Calub, M.; Arakawa, K.; Hodgman, J.E.

    1981-06-01

    Evidence that chronic hypoxia precedes death from sudden infant death syndrome (SIDS) is mounting. Prolonged exposure to moderate levels of pollutants could be a contributing factor to hypoxia. Levels of carbon monoxide (CO), sulfur dioxide (SO/sub 2/), nitrogen dioxide (NO/sub 2/) and hydrocarbons (HC) are highest in the winter when incidence of SIDS is increased. SIDS cases in Los Angeles County were correlated with daily mean levels of these pollutants, temperature, barometric pressure and monthly lead levels with the aid of time series analyses. Peaks in CO, SO/sub 2/, NO/sub 2/, HC and lead preceded the seasonal increase in SIDS by seven weeks. Theoretical considerations, such as the hypoxia-inducing effects of CO, support the hypothesis that this temporal relation has functional significance. The role of pollution levels as a predisposing factor in risk for SIDS cannot be summarily dismissed.

  10. Genomic risk factors in sudden infant death syndrome

    PubMed Central

    2010-01-01

    Sudden infant death syndrome (SIDS) is a major contributor to postneonatal infant death, and is the third leading cause of infant mortality in the USA. While public health efforts have reduced these deaths in recent years, the pathogenesis of SIDS remains unclear. Epidemiological data on SIDS-related deaths have suggested genetic factors, and many studies have attempted to identify SIDS-associated genes. This has resulted in a large body of literature implicating various genes and their encoded proteins and signaling pathways in numerous cohorts of various sizes and ethnicities. This review has undertaken a systematic evaluation of these studies, identifying the pathways that have been implicated in these studies, including central nervous system pathways, cardiac channelopathies, immune dysfunction, metabolism/energy pathways, and nicotine response. This review also explores how new genomic techniques will aid in advancing our knowledge of the genomic risk factors associated with SIDS, including SNPs and copy number variation. Last, this review explores how the current information can be applied to aid in our assessment of the at risk infant population. PMID:21122164

  11. Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment.

    PubMed

    Blaes, Franz; Dharmalingam, Backialakshmi

    2016-06-01

    Opsoclonus-myoclonus syndrome (OMS) is a rare and primarily immune-mediated disease in children and adults. The main symptoms include opsoclonus, myoclonus and ataxia. In children, the symptoms also include irritability, and, over a long-term course, learning and behavioural disturbances. OMS can be idiopathic, parainfectious or occur as a paraneoplastic (tumour-associated) syndrome. Paraneoplastic OMS in children is almost exclusively associated with neuroblastoma, whereas in adults, small cell lung cancer and breast cancer are the main underlying tumours. An autoimmune pathophysiology is suspected because childhood OMS patients have functionally active autoantibodies, proinflammatory changes in the cytokine network and immunotherapy responses. Children appear to respond regularly to immunosuppressive treatment. However, although the neurological symptoms show a good response, most children continue to show neuropsychological disturbances.

  12. [The ambitious but achievable goal: to end preventable childhood deaths due to pneumonia by 2025].

    PubMed

    Yao, Kai-Hu; Yang, Yong-Hong

    2014-10-01

    Globally, pneumonia is the leading cause of childhood mortality. Pneumonia is the second killer of children less than 5 years of age in China. The World Heath Organization and United Nations Children′s Fund launched the integrated Global Action Plan for the Prevention and Control of Pneumonia and Diarrhea (GAPPD) in 2013. The ambitious goal is to end preventable childhood deaths due to pneumonia by 2025. Countries or regions should achieve the following goals: (1) reduce mortality from pneumonia in children less than 5 years of age to fewer than 3 per 1 000 live births; (2) reduce the incidence of severe pneumonia by 75% in children less than 5 years of age compared to 2010 levels. If the implementation of key interventions is accelerated, the mortality rate of childhood pneumonia will drop substantially every year, which makes the goal achievable.

  13. Childhood infectious disease and premature death from cancer: a prospective cohort study.

    PubMed

    Tennant, Peter W G; Parker, Louise; Thomas, Julian E; Craft, Sir Alan W; Pearce, Mark S

    2013-03-01

    Studies of the association between early life infections and cancer have produced inconsistent findings, possibly due to limited adjustment for confounding and retrospective designs. This study utilised data from the Newcastle Thousand Families Study, a prospective cohort of 1,142 individuals born in Newcastle-upon-Tyne in 1947, to assess the impact of various childhood infectious diseases on cancer mortality during ages 15-60 years. Detailed information was collected prospectively on a number of early life factors. Deaths from cancer during ages 15-60 years were analysed in relation to childhood infections, adjusting for potential early-life confounders, using Cox proportional-hazards regression. In a subsample who returned questionnaires at aged 49-51 years, additional adjustment was made for adult factors to predict death from cancer during ages 50-60 years. Childhood history of measles and influenza, were both independently associated with lower cancer mortality during ages 15-60 years (adjusted hazard ratios = 0.39, 95% CI 0.17-0.88 and 0.49, 95% CI 0.24-0.98 respectively). In contrast, childhood pertussis was associated with higher cancer mortality during ages 15-60 years (adjusted hazard ratio = 4.88, 95% CI 2.29-10.38). In the subsample with additional adjustment for adult variables, measles and pertussis remained significantly associated with cancer mortality during ages 50-60 years. In this pre-vaccination cohort, childhood infection with measles and influenza were associated with a reduced risk of death from cancer in adulthood, while pertussis was associated with an increased risk. While these results suggest some disease-specific associations between early-life infections and cancer, further studies are required to confirm the specific associations identified.

  14. Approach to metabolic syndrome in childhood cancer survivors.

    PubMed

    Scott, J X; Latha, M S; Aruna, R

    2015-01-01

    The combined effects of optimized chemotherapy, surgery, radiotherapy, stem cell transplantation regimens, and improved supportive care had drastically increased the survival rate of childhood cancer. Hence, the number of adult survivors of childhood cancer is on the raise and this subset of population is gaining more attention due to the late effects of their cancer therapy. There is growing evidence that pediatric cancer survivors are at a greater risk of developing metabolic syndrome (MS) or the MS component traits than the general population. There is currently no drug therapy to treat MS as a whole disease, as it is a cluster of symptoms that present uniquely among different individuals. Given the recent recognition of MS in adult survivors of childhood cancer, there is a scarcity of long-term follow-up studies of this group. Adherence to a healthy lifestyle with both dietary and physical activity is the only most powerful and most useful armor available now against obesity and its metabolic complications.

  15. The physiological determinants of sudden infant death syndrome.

    PubMed

    Garcia, Alfredo J; Koschnitzky, Jenna E; Ramirez, Jan-Marino

    2013-11-01

    It is well-established that environmental and biological risk factors contribute to Sudden Infant Death Syndrome (SIDS). There is also growing consensus that SIDS requires the intersection of multiple risk factors that result in the failure of an infant to overcome cardio-respiratory challenges. Thus, the critical next steps in understanding SIDS are to unravel the physiological determinants that actually cause the sudden death, to synthesize how these determinants are affected by the known risk factors, and to develop novel ideas for SIDS prevention. In this review, we will examine current and emerging perspectives related to cardio-respiratory dysfunctions in SIDS. Specifically, we will review: (1) the role of the preBötzinger complex (preBötC) as a multi-functional network that is critically involved in the failure to adequately respond to hypoxic and hypercapnic challenges; (2) the potential involvement of the preBötC in the gender and age distributions that are characteristic for SIDS; (3) the link between SIDS and prematurity; and (4) the potential relationship between SIDS, auditory function, and central chemosensitivity. Each section underscores the importance of marrying the epidemiological and pathological data to experimental data in order to understand the physiological determinants of this syndrome. We hope that a better understanding will lead to novel ways to reduce the risk to succumb to SIDS. Copyright © 2013. Published by Elsevier B.V.

  16. Childhood trauma and metabolic syndrome in men and women

    PubMed Central

    Lee, Chioun; Tsenkova, Vera; Carr, Deborah

    2014-01-01

    The long-term effects of childhood trauma on health are well-documented, but few population-based studies have explored how childhood trauma affects the risk of developing metabolic syndrome (MetS) in adulthood. Using data from 1,234 adults in the second wave of the Midlife Development in the U.S. survey (2004), we investigate (1) the extent to which childhood abuse affects the risk of developing MetS in adulthood; (2) how the severity of different types of abuse (emotional, physical, sexual, or cumulative abuse) affects this risk; and (3) the extent to which adult socioeconomic status (SES), maladaptive stress responses, and unhealthy behaviors mediate the association. We also test whether these associations differ significantly by sex. We find that emotional and physical abuse increase the risk of developing MetS for both sexes, whereas sexual abuse is a predictor for women only. For both sexes, individuals who experienced more cumulative abuse have a greater risk of developing MetS. Adult SES partially explains the association between childhood abuse and MetS. Maladaptive stress responses and unhealthy behaviors further explain the association. Among the potential mediators, poor sleep quality was a significant pathway for men and women, while stress-induced eating was a significant pathway for women only. Our findings suggest that the well-documented health consequences of early life trauma may vary by the nature of the trauma, the victim’s sex, and the coping mechanisms that he or she employs. PMID:24524907

  17. High serum serotonin in sudden infant death syndrome.

    PubMed

    Haynes, Robin L; Frelinger, Andrew L; Giles, Emma K; Goldstein, Richard D; Tran, Hoa; Kozakewich, Harry P; Haas, Elisabeth A; Gerrits, Anja J; Mena, Othon J; Trachtenberg, Felicia L; Paterson, David S; Berry, Gerard T; Adeli, Khosrow; Kinney, Hannah C; Michelson, Alan D

    2017-07-18

    Sudden infant death syndrome (SIDS), the leading cause of postneonatal infant mortality, likely comprises heterogeneous disorders with the common phenotype of sudden death without explanation upon postmortem investigation. Previously, we reported that ∼40% of SIDS deaths are associated with abnormalities in serotonin (5-hydroxytryptamine, 5-HT) in regions of the brainstem critical in homeostatic regulation. Here we tested the hypothesis that SIDS is associated with an alteration in serum 5-HT levels. Serum 5-HT, adjusted for postconceptional age, was significantly elevated (95%) in SIDS infants (n = 61) compared with autopsied controls (n = 15) [SIDS, 177.2 ± 15.1 (mean ± SE) ng/mL versus controls, 91.1 ± 30.6 ng/mL] (P = 0.014), as determined by ELISA. This increase was validated using high-performance liquid chromatography. Thirty-one percent (19/61) of SIDS cases had 5-HT levels greater than 2 SDs above the mean of the controls, thus defining a subset of SIDS cases with elevated 5-HT. There was no association between genotypes of the serotonin transporter promoter region polymorphism and serum 5-HT level. This study demonstrates that SIDS is associated with peripheral abnormalities in the 5-HT pathway. High serum 5-HT may serve as a potential forensic biomarker in autopsied infants with SIDS with serotonergic defects.

  18. High serum serotonin in sudden infant death syndrome

    PubMed Central

    Frelinger, Andrew L.; Giles, Emma K.; Goldstein, Richard D.; Tran, Hoa; Kozakewich, Harry P.; Haas, Elisabeth A.; Gerrits, Anja J.; Mena, Othon J.; Trachtenberg, Felicia L.; Paterson, David S.; Berry, Gerard T.; Adeli, Khosrow; Kinney, Hannah C.; Michelson, Alan D.

    2017-01-01

    Sudden infant death syndrome (SIDS), the leading cause of postneonatal infant mortality, likely comprises heterogeneous disorders with the common phenotype of sudden death without explanation upon postmortem investigation. Previously, we reported that ∼40% of SIDS deaths are associated with abnormalities in serotonin (5-hydroxytryptamine, 5-HT) in regions of the brainstem critical in homeostatic regulation. Here we tested the hypothesis that SIDS is associated with an alteration in serum 5-HT levels. Serum 5-HT, adjusted for postconceptional age, was significantly elevated (95%) in SIDS infants (n = 61) compared with autopsied controls (n = 15) [SIDS, 177.2 ± 15.1 (mean ± SE) ng/mL versus controls, 91.1 ± 30.6 ng/mL] (P = 0.014), as determined by ELISA. This increase was validated using high-performance liquid chromatography. Thirty-one percent (19/61) of SIDS cases had 5-HT levels greater than 2 SDs above the mean of the controls, thus defining a subset of SIDS cases with elevated 5-HT. There was no association between genotypes of the serotonin transporter promoter region polymorphism and serum 5-HT level. This study demonstrates that SIDS is associated with peripheral abnormalities in the 5-HT pathway. High serum 5-HT may serve as a potential forensic biomarker in autopsied infants with SIDS with serotonergic defects. PMID:28674018

  19. Sudden unexpected death in a mouse model of Dravet syndrome

    PubMed Central

    Kalume, Franck; Westenbroek, Ruth E.; Cheah, Christine S.; Yu, Frank H.; Oakley, John C.; Scheuer, Todd; Catterall, William A.

    2013-01-01

    Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in intractable epilepsies, but physiological mechanisms that lead to SUDEP are unknown. Dravet syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1. We studied the mechanism of premature death in Scn1a heterozygous KO mice and conditional brain- and cardiac-specific KOs. Video monitoring demonstrated that SUDEP occurred immediately following generalized tonic-clonic seizures. A history of multiple seizures was a strong risk factor for SUDEP. Combined video-electroencephalography-electrocardiography revealed suppressed interictal resting heart-rate variability and episodes of ictal bradycardia associated with the tonic phases of generalized tonic-clonic seizures. Prolonged atropine-sensitive ictal bradycardia preceded SUDEP. Similar studies in conditional KO mice demonstrated that brain, but not cardiac, KO of Scn1a produced cardiac and SUDEP phenotypes similar to those found in DS mice. Atropine or N-methyl scopolamine treatment reduced the incidence of ictal bradycardia and SUDEP in DS mice. These findings suggest that SUDEP is caused by apparent parasympathetic hyperactivity immediately following tonic-clonic seizures in DS mice, which leads to lethal bradycardia and electrical dysfunction of the ventricle. These results have important implications for prevention of SUDEP in DS patients. PMID:23524966

  20. Current issues in postmortem imaging of perinatal and forensic childhood deaths.

    PubMed

    Arthurs, Owen J; Hutchinson, John C; Sebire, Neil J

    2017-03-01

    Perinatal autopsy practice is undergoing a state of change with the introduction of evidence-based cross-sectional imaging, driven primarily by parental choice. In particular, the introduction of post mortem magnetic resonance imaging (PMMR) has helped to advance less-invasive perinatal autopsy in the United Kingdom (UK) and Europe. However, there are limitations to PMMR and other imaging techniques which need to be overcome, particularly with regard to imaging very small fetuses. Imaging is also now increasingly used to investigate particular deaths in childhood, such as suspected non-accidental injury (NAI) and sudden unexpected death in infancy (SUDI). Here we focus on current topical developments the field, with particular emphasis on the application of imaging to perinatal autopsy, and pediatric forensic deaths. Different imaging modalities and their relative advantages and disadvantages are discussed, together with other benefits of more advanced cross-sectional imaging which currently lie in the research domain. Whilst variations in local imaging service provision and need may determine different practice patterns, and access to machines and professionals with appropriate expertise and experience to correctly interpret the findings may limit current practices, we propose that gold standard perinatal and pediatric autopsy services would include complete PMMR imaging prior to autopsy, with PMCT in suspicious childhood deaths. This approach would provide maximal diagnostic yield to the pathologist, forensic investigator and most importantly, the parents.

  1. Histological findings in unclassified sudden infant death, including sudden infant death syndrome.

    PubMed

    Liebrechts-Akkerman, Germaine; Bovée, Judith V M G; Wijnaendts, Liliane C D; Maes, Ann; Nikkels, Peter G J; de Krijger, Ronald R

    2013-01-01

    Our objective was to study histological variations and abnormalities in unclassified sudden infant death (USID), including sudden infant death syndrome (SIDS), in The Netherlands. Two hundred Dutch USID cases between 1984 and 2005 were identified. The histology slides and autopsy reports of 187 cases were available for systematic review, including brain autopsy in 135 cases. An explanation for the cause of death in 19 patients (10.2%) was found. Twelve patients had bronchopneumonia, 3 showed extensive aspiration, 2 had signs of a metabolic disorder, 1 had sepsis, and 1 had meningitis. Frequent nonspecific findings were congestion (66%), edema (47%), small hemorrhages (18%), and lymphoid aggregates (51%) in the lungs; congestion of the liver (23%); and asphyctic bleeding in the kidney (44%), adrenal gland (23%), and thymus (17%). Statistical associations were found for infection with starry sky macrophages in the thymus (P  =  0.004), with calcification (P  =  0.023), or with debris in the Hassal's corpuscles (P  =  0.034). In this study, in 10.2% of cases the histological findings were incompatible with SIDS or USID. Furthermore, several frequent nonspecific histological findings in the thymus that point toward an infection were found.

  2. Sarcomeric gene mutations in sudden infant death syndrome (SIDS).

    PubMed

    Brion, Maria; Allegue, Catarina; Santori, Montserrat; Gil, Rocio; Blanco-Verea, Alejandro; Haas, Cordula; Bartsch, Christine; Poster, Simone; Madea, Burkhard; Campuzano, Oscar; Brugada, Ramon; Carracedo, Angel

    2012-06-10

    In developed countries, sudden infant death syndrome (SIDS) represents the most prevalent cause of death in children between 1 month and 1 year of age. SIDS is a diagnosis of exclusion, a negative autopsy which requires the absence of structural organ disease. Although investigators have confirmed that a significant percentage of SIDS cases are actually channelopathies, no data have been made available as to whether other sudden cardiac death-associated diseases, such as hypertrophic cardiomyopathy (HCM), could be responsible for some cases of SIDS. The presence of a genetic mutation in the sarcomeric protein usually affects the force of contraction of the myocyte, whose weakness is compensated with progressive hypertrophy and disarray. However, it is unclear whether in the most incipient forms, that is, first years of life, the lack of these phenotypes still confers a risk of arrhythmogenesis. The main goal of the present study is to wonder whether genetic defects in the sarcomeric proteins, previously associated with HCM, could be responsible for SIDS. We have analysed 286 SIDS cases for the most common genes implicated in HCM in adults. A total of 680 mutations localised in 16 genes were analysed by semi-automated matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDITOF-MS) using the Sequenom MassARRAY(®) System. Ten subjects with completely normal hearts showed mutated alleles at nine of the genetic variants analysed, and one additional novel mutation was detected by conventional sequencing. Therefore, a genetic mutation associated with HCM may cause sudden cardiac death in the absence of an identifiable phenotype. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

  3. Melatonin concentrations in the sudden infant death syndrome

    NASA Technical Reports Server (NTRS)

    Sturner, W. Q.; Lynch, H. J.; Deng, M. H.; Gleason, R. E.; Wurtman, R. J.

    1990-01-01

    To examine a possible relationship between pineal function and the sudden infant death syndrome (SIDS), samples of whole blood, ventricular cerebrospinal fluid (CSF) and/or vitreous humor (VH) were obtained at autopsy from 68 infants (45 male, 23 female) whose deaths were attributed to either SIDS (n = 32, 0.5-5.0 months of age; mean plus or minus S.E.M., 2.6 plus or minus 0.2 months) or other causes (non-SIDS, n = 36, 0.3-8.0 months of age 4.3 plus or minus 0.3 months). The melatonin concentrations were measured by radioimmunoassay. A significant correlation was observed for melatonin levels in different body fluids from the same individual. After adjusting for age differences, CSF melatonin levels were significantly lower among the SIDS infants (91 plus or minus 29 pmol/l; n = 32) than among those dying from other causes (180 plus or minus 27; n = 35, P less than 0.05). A similar, but non-significant trend was also noted in blood (97 plus or minus 23, n = 30 vs. 144 plus or minus 22 pmol/l, n = 33) and vitreous humor (68 plus or minus 21, n = 10 vs. 81 plus or minus 17 pmol/l, n = 15). These differences do not appear to be explainable in terms of the interval between death and autopsy, gender, premortem infection, or therapeutic measures instituted prior to death. Diminished melatonin production may be characteristic of SIDS and could represent an impairment in the maturation of physiologic circadian organization.

  4. Genetics of childhood steroid-sensitive nephrotic syndrome.

    PubMed

    Karp, Alana M; Gbadegesin, Rasheed A

    2016-07-29

    The pathogenesis of childhood-onset nephrotic syndrome (NS), disparity in incidence of NS among races, and variable responses to therapies in children with NS have defied explanation to date. In the last 20 years over 50 genetic causes of steroid-resistant nephrotic syndrome (SRNS) have been identified, and at least two disease loci for two pathologic variants of SRNS (focal segmental glomerulosclerosis and membranous nephropathy) have been defined. However, the genetic causes and risk loci for steroid-sensitive nephrotic syndrome (SSNS) remain elusive, partly because SSNS is relatively rare and also because cases of SSNS vary widely in phenotypic expression over time. A recent study of a well-defined modest cohort of children with SSNS identified variants in HLA-DQA1 as a risk factor for SSNS. Here we review what is currently known about the genetics of SSNS and also discuss how recent careful phenotypic and genomic studies reinforce the role of adaptive immunity in the molecular mechanisms of SSNS.

  5. Autonomic dysfunction in childhood Guillain-Barré syndrome.

    PubMed

    Dimario, Francis J; Edwards, Carrie

    2012-05-01

    This investigation correlated incidence and degree of autonomic dysfunction with the degree of motor impairment in children hospitalized with Guillain-Barré syndrome. Motor weakness varies, as does the effect on autonomic function including heart rate, vasomotor stability, sweating, continence, and blood pressure. After Institutional Review Board approval, hospitalized patients with Guillain-Barré syndrome <19 years were included for retrospective chart review. There were 26 patients (12 boys), with a mean age of 11.3 years (range, 6-17 years). The average hospital stay was 10.6 days. Twenty-four (92%) recovered by 2 to 6 months without functional disability. Bradycardia and sweating disturbances were not observed. Hypertension occurred in 18 of 26 (69%) and tachycardia in 20 of 26 (77%) patients. The proportion of children with hypertension and/or tachycardia increased, as did the motor disability grade (P < .043 and P < .018, respectively). Hypertension occurred 9 to 15 days from symptom onset and within 24 to 48 hours of maximum motor disability in 89%. Multiple autonomic disturbances compound the course of childhood Guillain-Barré syndrome.

  6. Does childhood victimization increase the risk of early death? A 25-year prospective study.

    PubMed

    White, Helene Raskin; Widom, Cathy Spatz

    2003-07-01

    Abuse and neglect have been shown to influence the mental and physical health of children; however, few studies have examined whether childhood victimization leads to an increased risk of early death. This paper compares mortality data and examines cause of death for a sample of 908 abused and/or neglected individuals and 667 matched controls who were followed up into young adulthood. Using data from a prospective cohort design study, a large group of children with substantiated cases of abuse (physical and sexual) and/or neglect approximately 25 years ago were matched with a control group of children and both groups were followed up into adulthood. The National Death Index was searched twice and official death certificates were collected for most individuals who had died. Surprisingly, there were no significant differences in rates of mortality for the two groups (abuse and neglect = 3.5%, controls = 3.0%). Furthermore, victims of child abuse and neglect were not more likely to experience a violent death. Our results do not provide support for a heightened rate of early death in abused and neglected children followed up into young adulthood. Limitations of the study are discussed as well as potential reasons for these unexpected findings.

  7. Childhood family disruptions and adult well-being: the differential effects of divorce and parental death.

    PubMed

    Mack, K Y

    2001-01-01

    This study draws on attachment theory and social learning theory and uses data from the National Survey of Families and Households to examine the differential effects of childhood family disruptions on adult well-being. Comparisons are made between adults who experienced parental divorce, adults who experienced parental death, and adults who were raised in intact families (N = 4,341). The present study differs from previous research by making direct comparisons between different family disruption groups, assessing the effects of family disruptions that occur before age 19, and including multiple measures of adult well-being as dependent variables. Consistent with hypotheses and inferences made from comparisons with adults from intact families, adults who experienced parental divorce report lower levels of parent-child relationship quality, higher levels of self-confidence, and lower levels of depression than adults who experienced parental death during childhood. Therefore, studies that fail to take type of childhood family disruption into account will lead to inaccurate and misleading conclusions about the effects of these experiences on adult outcomes.

  8. Risk factor changes for sudden infant death syndrome after initiation of Back-to-Sleep campaign.

    PubMed

    Trachtenberg, Felicia L; Haas, Elisabeth A; Kinney, Hannah C; Stanley, Christina; Krous, Henry F

    2012-04-01

    To test the hypothesis that the profile of sudden infant death syndrome (SIDS) changed after the Back-to-Sleep (BTS) campaign initiation, document prevalence and patterns of multiple risks, and determine the age profile of risk factors. The San Diego SIDS/Sudden Unexplained Death in Childhood Research Project recorded risk factors for 568 SIDS deaths from 1991 to 2008 based upon standardized death scene investigations and autopsies. Risks were divided into intrinsic (eg, male gender) and extrinsic (eg, prone sleep). Between 1991-1993 and 1996-2008, the percentage of SIDS infants found prone decreased from 84.0% to 48.5% (P < .001), bed-sharing increased from 19.2% to 37.9% (P < .001), especially among infants <2 months (29.0% vs 63.8%), prematurity rate increased from 20.0% to 29.0% (P = .05), whereas symptoms of upper respiratory tract infection decreased from 46.6% to 24.8% (P < .001). Ninety-nine percent of SIDS infants had at least 1 risk factor, 57% had at least 2 extrinsic and 1 intrinsic risk factor, and only 5% had no extrinsic risk. The average number of risks per SIDS infant did not change after initiation of the BTS campaign. SIDS infants in the BTS era show more variation in risk factors. There was a consistently high prevalence of both intrinsic and especially extrinsic risks both before and during the Back-to-Sleep era. Risk reduction campaigns emphasizing the importance of avoiding multiple and simultaneous SIDS risks are essential to prevent SIDS, including among infants who may already be vulnerable.

  9. Risk Factor Changes for Sudden Infant Death Syndrome After Initiation of Back-to-Sleep Campaign

    PubMed Central

    Trachtenberg, Felicia L.; Haas, Elisabeth A.; Kinney, Hannah C.; Stanley, Christina

    2012-01-01

    OBJECTIVE: To test the hypothesis that the profile of sudden infant death syndrome (SIDS) changed after the Back-to-Sleep (BTS) campaign initiation, document prevalence and patterns of multiple risks, and determine the age profile of risk factors. METHODS: The San Diego SIDS/Sudden Unexplained Death in Childhood Research Project recorded risk factors for 568 SIDS deaths from 1991 to 2008 based upon standardized death scene investigations and autopsies. Risks were divided into intrinsic (eg, male gender) and extrinsic (eg, prone sleep). RESULTS: Between 1991–1993 and 1996–2008, the percentage of SIDS infants found prone decreased from 84.0% to 48.5% (P < .001), bed-sharing increased from 19.2% to 37.9% (P < .001), especially among infants <2 months (29.0% vs 63.8%), prematurity rate increased from 20.0% to 29.0% (P = .05), whereas symptoms of upper respiratory tract infection decreased from 46.6% to 24.8% (P < .001). Ninety-nine percent of SIDS infants had at least 1 risk factor, 57% had at least 2 extrinsic and 1 intrinsic risk factor, and only 5% had no extrinsic risk. The average number of risks per SIDS infant did not change after initiation of the BTS campaign. CONCLUSIONS: SIDS infants in the BTS era show more variation in risk factors. There was a consistently high prevalence of both intrinsic and especially extrinsic risks both before and during the Back-to-Sleep era. Risk reduction campaigns emphasizing the importance of avoiding multiple and simultaneous SIDS risks are essential to prevent SIDS, including among infants who may already be vulnerable. PMID:22451703

  10. Heavy caffeine intake in pregnancy and sudden infant death syndrome

    PubMed Central

    Ford, R; Schluter, P; Mitchell, E; Taylor, B; Scragg, R; Stewart, A; the, N; OSMOND, C.

    1998-01-01

    AIMS—To examine the association between maternal caffeine consumption during pregnancy and the risk of sudden infant death syndrome (SIDS).
METHODS—A nationwide case-control study surveying parents of 393 SIDS victims and parents of 1592 control infants. Caffeine consumption in each of the first and third trimesters was estimated by questionnaire. Heavy caffeine intake was defined as 400 mg/day or more (equivalent to four or more cups of coffee per day).
RESULTS—Infants whose mothers had heavy caffeine consumption throughout their pregnancy had a significantly increased risk for SIDS (odds ratio 1.65; 95% confidence interval 1.15 to 2.35) after adjusting for likely confounding factors.
CONCLUSION—Caffeine intake has been associated with fetal harm and now SIDS. Reducing heavy caffeine intake during pregnancy could be another way to lessen the risk of SIDS. This needs confirmation by others.

 PMID:9534669

  11. Sudden infant death syndrome (SIDS) and child care centres (CCC).

    PubMed

    Kiechl-Kohlendorfer, U; Moon, R Y

    2008-07-01

    Our aim was to review the risk of sudden infant death syndrome (SIDS) when infants are in child care (CC), to discuss factors potentially responsible for SIDS in this setting and to describe the impact of previous information campaigns on SIDS in CC. There is a remarkably increased risk of SIDS in CC settings. Special education focussing on a safe sleeping environment has resulted in a decrease of practices known to be associated with SIDS. However, despite a safe sleep environment SIDS prevalence remains disproportionately high. Efforts must continue to ensure safe sleeping practices in CC facilities. The possibility of other explanations for the increased prevalence of SIDS in CC settings, such as changes in infant care or stress, must be considered as well.

  12. Sudden infant death syndrome prevention: a model program for NICUs.

    PubMed

    McMullen, Sherri L; Lipke, Bethann; LeMura, Catherine

    2009-01-01

    Health care providers' opinions can influence how parents place their infant to sleep. Neonatal nurses can improve how they teach and model safe infant sleep practices to parents. To increase neonatal nurses' knowledge, a sudden infant death syndrome (SIDS) prevention program was implemented. Program components included a computerized teaching tool, a crib card, sleep sacks, and discharge instructions. Initial program evaluation showed that 98 percent of infants slept supine and 93 percent slept in sleep sacks in open cribs. However, nurses continued to swaddle some infants with blankets to improve thermoregulation. To increase nursing compliance in modeling safe infant sleep practices, Halo SleepSack Swaddles were provided for nurses to use in place of a blanket to regulate infant temperature. Recent data show that 100 percent of infants in open cribs are now sleeping supine wearing a Halo Swaddle or a traditional Halo SleepSack. This model program can easily be replicated to enhance neonatal nurses' knowledge about SIDS prevention.

  13. Cardiac potassium channel dysfunction in sudden infant death syndrome.

    PubMed

    Rhodes, Troy E; Abraham, Robert L; Welch, Richard C; Vanoye, Carlos G; Crotti, Lia; Arnestad, Marianne; Insolia, Roberto; Pedrazzini, Matteo; Ferrandi, Chiara; Vege, Ashild; Rognum, Torleiv; Roden, Dan M; Schwartz, Peter J; George, Alfred L

    2008-03-01

    Life-threatening arrhythmias have been suspected as one cause of the sudden infant death syndrome (SIDS), and this hypothesis is supported by the observation that mutations in arrhythmia susceptibility genes occur in 5-10% of cases. However, the functional consequences of cardiac potassium channel gene mutations associated with SIDS and how these alleles might mechanistically predispose to sudden death are unknown. To address these questions, we studied four missense KCNH2 (encoding HERG) variants, one compound KCNH2 genotype, and a missense KCNQ1 mutation all previously identified in Norwegian SIDS cases. Three of the six variants exhibited functional impairments while three were biophysically similar to wild-type channels (KCNH2 variants V279M, R885C, and S1040G). When co-expressed with WT-HERG, R273Q and K897T/R954C generated currents resembling the rapid component of the cardiac delayed rectifier current (I(Kr)) but with significantly diminished amplitude. Action potential modeling demonstrated that this level of functional impairment was sufficient to evoke increased action potential duration and pause-dependent early afterdepolarizations. By contrast, KCNQ1-I274V causes a gain-of-function in I(Ks) characterized by increased current density, faster activation, and slower deactivation leading to accumulation of instantaneous current upon repeated stimulation. Action potential simulations using a Markov model of heterozygous I274V-I(Ks) incorporated into the Luo-Rudy (LRd) ventricular cell model demonstrated marked rate-dependent shortening of action potential duration predicting a short QT phenotype. Our results indicate that certain potassium channel mutations associated with SIDS confer overt functional defects consistent with either LQTS or SQTS, and further emphasize the role of congenital arrhythmia susceptibility in this syndrome.

  14. [Wallenberg syndrome in childhood secondary to the striking by lightening].

    PubMed

    Serrano, M L; Garí, M; Castro, P; Garzo, C; Maroto, C; Maroto, E

    1995-01-01

    Wallenberg's Syndrome (WS) is exceptional in childhood. We present a case of a 10 year-old girl with a WS caused by an embolism in the right lateral portion of the medulla secondary to an electrofulguration, but with an unusual progressive outcome, developing clinical signs of medial medullar injury, leading even into a respiratory failure 30 days after admittance. She only became stable after surgical lesion decompression. There was no evidence of vascular malformation, finding only a great oedema. The pathology only showed changes compatible with brain infarction. This case makes again clear the superiority of MRI upon CT-scan to diagnose a WS. We think that the unusual progression of the lesion was due to great medullar oedema found on surgery, involving the brain regional flow.

  15. Early probiotics to prevent childhood metabolic syndrome: A systematic review

    PubMed Central

    Balasubramanian, Haribalakrishna; Patole, Sanjay

    2015-01-01

    AIM: To conduct a systematic review of studies on early probiotic supplementation to prevent childhood metabolic syndrome (MS). METHODS: Using the Cochrane systematic review strategy we searched PubMed, EMBASE, CENTRAL, CINAHL, and the conference proceedings of the Pediatric American Society meetings and trial registries in December 2014. Randomised controlled trials (RCTs) and non RCTs of probiotic supplementation to the mother and/or infant for a minimum duration of 4 wk were selected. Of these, studies that reported on MS or its components (obesity, raised blood pressure, hyperglycemia, dyslipidemia) in children between 2-19 years were to be eligible for inclusion in the review. Risk of bias (ROB) in selected RCTs and quality assessment of non-RCT studies were to be assessed by the Cochrane ROB assessment table and New Castle Ottawa scale. RESULTS: There were no studies on early probiotic administration for prevention of childhood MS (CMS). Follow up studies of two placebo controlled RCTs (n = 233) reported on the effects of early probiotics on one or more components of MS in children aged 2-19 years. Meta-analysis of those two studies could not be performed due to differences in the patient population, type of outcomes studied and the timing of their assessment. Assessment of childhood metabolic outcomes was not the primary objective of these studies. The first study that assessed the effects of prenatal and postnatal supplementation of Lactobacillus rhamnosus GG on body mass index till 10 years, did not report a significant benefit. In the second study, Lactobacillus paracasei 19 was supplemented to healthy term infants from 4-13 mo. No significant effect on body mass index, body composition or metabolic markers was detected. CONCLUSION: Current evidence on early probiotic administration to prevent CMS is inadequate. Gaps in knowledge need to be addressed before large RCTs can be planned. PMID:26413489

  16. The Ped-APS Registry: the antiphospholipid syndrome in childhood.

    PubMed

    Avcin, T; Cimaz, R; Rozman, B

    2009-09-01

    In recent years, antiphospholipid syndrome (APS) has been increasingly recognised in various paediatric autoimmune and nonautoimmune diseases, but the relatively low prevalence and heterogeneity of APS in childhood made it very difficult to study in a systematic way. The project of an international registry of paediatric patients with APS (the Ped-APS Registry) was initiated in 2004 to foster and conduct multicentre, controlled studies with large number of paediatric APS patients. The Ped-APS Registry is organised as a collaborative project of the European Forum on Antiphospholipid Antibodies and Juvenile Systemic Lupus Erythematosus Working Group of the Paediatric Rheumatology European Society. Currently, it documents a standardised clinical, laboratory and therapeutic data of 133 children with antiphospholipid antibodies (aPL)-related thrombosis from 14 countries. The priority projects for future research of the Ped-APS Registry include prospective enrollment of new patients with aPL-related thrombosis, assessment of differences between the paediatric and adult APS, evaluation of proinflammatory genotype as a risk factor for APS manifestations in childhood and evaluation of patients with isolated nonthrombotic aPL-related manifestations.

  17. Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

    ERIC Educational Resources Information Center

    Salim, Mubadda A.; Alpert, Bruce S.

    2001-01-01

    Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

  18. Sports and Marfan Syndrome: Awareness and Early Diagnosis Can Prevent Sudden Death.

    ERIC Educational Resources Information Center

    Salim, Mubadda A.; Alpert, Bruce S.

    2001-01-01

    Physicians who work with athletes play an important role in preventing sudden death related to physical activity in people who have Marfan syndrome. Flagging those who have the physical stigmata and listening for certain cardiac auscultation sounds are early diagnostic keys that can help prevent deaths. People with Marfan syndrome should be…

  19. Cardiac ion channel gene mutations in sudden infant death syndrome.

    PubMed

    Otagiri, Tesshu; Kijima, Kazuki; Osawa, Motoki; Ishii, Kuniaki; Makita, Naomasa; Matoba, Ryoji; Umetsu, Kazuo; Hayasaka, Kiyoshi

    2008-11-01

    Sudden infant death syndrome (SIDS) is multifactorial and may result from the interaction of a number of environmental, genetic, and developmental factors. We studied three major genes causing long QT syndrome in 42 Japanese SIDS victims and found five mutations, KCNQ1-K598R, KCNH2-T895M, SCN5A-F532C, SCN5A-G1084S, and SCN5A-F1705S, in four cases; one case had both KCNH2-T895M and SCN5A-G1084S. All mutations were novel except for SCN5A-F532C, which was previously detected in an arrhythmic patient. Heterologous expression study revealed significant changes in channel properties of KCNH2-T895M, SCN5A-G1084S, and SCN5A-F1705S, but did not in KCNQ1-K598R and SCN5A-F532C. Our data suggests that nearly 10% of SIDS victims in Japan have mutations of the cardiac ion channel genes similar to in other countries.

  20. Cardiac Muscarinic Receptor Overexpression in Sudden Infant Death Syndrome

    PubMed Central

    Livolsi, Angelo; Niederhoffer, Nathalie; Dali-Youcef, Nassim; Rambaud, Caroline; Olexa, Catherine; Mokni, Walid; Gies, Jean-Pierre; Bousquet, Pascal

    2010-01-01

    Background Sudden infant death syndrome (SIDS) remains the leading cause of death among infants less than 1 year of age. Disturbed expression of some neurotransmitters and their receptors has been shown in the central nervous system of SIDS victims but no biological abnormality of the peripheral vago-cardiac system has been demonstrated to date. The present study aimed to seek vago-cardiac abnormalities in SIDS victims. The cardiac level of expression of muscarinic receptors, as well as acetylcholinesterase enzyme activity were investigated. Methodology/Principal Findings Left ventricular samples and blood samples were obtained from autopsies of SIDS and children deceased from non cardiac causes. Binding experiments performed with [3H]NMS, a selective muscarinic ligand, in cardiac membrane preparations showed that the density of cardiac muscarinic receptors was increased as shown by a more than doubled Bmax value in SIDS (n = 9 SIDS versus 8 controls). On average, the erythrocyte acetylcholinesterase enzyme activity was also significantly increased (n = 9 SIDS versus 11 controls). Conclusions In the present study, it has been shown for the first time that cardiac muscarinic receptor overexpression is associated with SIDS. The increase of acetylcholinesterase enzyme activity appears as a possible regulatory mechanism. PMID:20209124

  1. Sudden infant death syndrome: review for the obstetric care provider.

    PubMed

    Van Nguyen, Julie My; Abenhaim, Haim A

    2013-10-01

    Sudden infant death syndrome (SIDS) is the leading cause of death among infants aged 1 to 12 months. In this article, we review risk factors that may predispose infants to increased vulnerability. Maternal characteristics, including nonmodifiable and modifiable factors, antenatal medical conditions, labor and delivery events, and infant characteristics, are reviewed, with the purpose of helping obstetric care providers target risk reduction efforts. We have reviewed over 85 case-control, retrospective, and prospective cohort studies published between 1975 and 2011. Major modifiable risk factors include maternal and paternal smoking, drug use, alcohol use, and insufficient prenatal care. Infants at increased risk include males, premature infants, infants of low birth weight or growth-restricted infants, and infants in multiple gestations. By targeting modifiable and nonmodifiable risk factors, it may be possible to decrease the incidence of SIDS. Efforts should be put on decreasing high-risk behaviors and encouraging sufficient antenatal follow-up. In view of recent increases in ethnic and social disparity with SIDS, it is essential that risk reduction guidelines, which have recently been expanded by the American Association of Pediatrics, be explained in a culturally sensitive manner.

  2. Sudden unexplained death syndrome--a new manifestation in melioidosis?

    PubMed Central

    Yap, E. H.; Chan, Y. C.; Goh, K. T.; Chao, T. C.; Heng, B. H.; Thong, T. W.; Tan, H. C.; Thong, K. T.; Jacob, E.; Singh, M.

    1991-01-01

    The indirect haemagglutination (IHA) test using sensitized turkey erythrocytes and the indirect immunofluorescence assay (IgM-IFA) was confirmed to be sensitive in the detection of a recent or current Pseudomonas pseudomallei infection in 19 culture-confirmed Singapore melioidosis patients. All were found to have antibody titres from 4 to 32768 in the IHA test and 10 to 320 in the IgM-IFA test. When these tests were employed on sera from 16 immigrant Thai construction workers who died of sudden unexplained death syndrome (SUDS) and 73 healthy Thai fellow workers, 93.8% and 68.8% of SUDS cases had IHA titre of greater than or equal to 4 and IgM-IFA titre of greater than or equal to 10 respectively, in contrast to 39.7% and 12.3% found among healthy Thai workers. These data indicate that at the time of death, most of the SUDS patients had an active infection with P. pseudomallei, possibly resulting from reactivation of a latent infection. The aetiological role of P. pseudomallei as the major cause of SUDS is discussed. PMID:1721589

  3. Maternal and obstetrical predictors of sudden infant death syndrome (SIDS).

    PubMed

    Friedmann, Isabel; Dahdouh, Elias M; Kugler, Perlyne; Mimran, Gracia; Balayla, Jacques

    2017-10-01

    Public Health initiatives, such as the "Safe to Sleep" campaign, have traditionally targeted infants' risk factors for the prevention of Sudden Infant Death Syndrome (SIDS). However, controversy remains regarding maternal and obstetrical risk factors for SIDS. In our study, we sought out to determine both modifiable and non-modifiable obstetrical and maternal risk factors associated with SIDS. We conducted a population-based cohort study using the CDC's Linked Birth-Infant Death data from the United States for the year 2010. The impact of several obstetrical and maternal risk factors on the risk of overall infant mortality and SIDS was estimated using unconditional regression analysis, adjusting for relevant confounders. Our cohort consisted of 4,007,105 deliveries and 24,174 infant deaths during the first year of life, of which 1991 (8.2%) were due to SIDS. Prominent risk factors for SIDS included (OR [95% CI]): black race, 1.89 [1.68-2.13]; maternal smoking, 3.56 [3.18-3.99]; maternal chronic hypertension, 1.73 [1.21-2.48]; gestational hypertension, 1.51 [1.23-1.87]; premature birth <37 weeks, 2.16 [1.82-2.55]; IUGR, 2.46 [2.14-2.82]; and being a twin, 1.81 [1.43-2.29], p < 0.0001. Relative to a cohort of infants who died of other causes, risk factors with a predilection for SIDS were maternal smoking, 2.48 [2.16-2.83] and being a twin, 1.52 [1.21-1.91], p < 0.0001. Conclusions for practice: While certain socio-demographic and gestational characteristics are important risk factors, maternal smoking remains the strongest prenatal modifiable risk factor for SIDS. We recommend the continuation of Public Health initiatives that promote safe infant sleeping practices and smoking cessation during and after pregnancy.

  4. Sudden infant death syndrome in an urban Aboriginal community.

    PubMed

    Knight, Jennifer; Webster, Vana; Kemp, Lynn; Comino, Elizabeth

    2013-12-01

    The study aims to understand sudden infant death syndrome (SIDS) risk and preventive practices in an urban Aboriginal community, through exploration of mothers' knowledge and practices and examination of coroner case records. Data were collected from the mothers of Aboriginal infants participating in the Gudaga Study, a longitudinal birth cohort study. At 2-3 weeks post-natal, mothers were asked about SIDS risk-reduction practices, infant sleeping position and smoking practices within the home. Questions were repeated when study infants were 6 months of age. During the first 18 months of the study, three infants within the cohort died. All deaths were identified as SIDS related. The Coroner reports for these infants were reviewed. At the 2-3 weeks data collection point, approximately 66.2% (n = 98) of mothers correctly identified two or more SIDS risk-reduction strategies. At this same data point, approximately 82% (n = 122) of mothers were putting their infants to sleep on their backs (supine). Higher maternal education was significantly associated (P < 0.01), with identification of two or more correct SIDS risk-reduction strategies and supine sleeping position at 2-3 weeks. The Coroner considered two infants who had been sleeping in an unsafe sleeping environment. Rates of SIDS deaths within the study community were much higher than the national average. Most mothers were putting their infant to sleep correctly even though they may be unaware that their practice was in accordance with recommended guidelines. Best practice safe sleeping environments are difficult to achieve for some families living in low socio-economic settings. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  5. Death in pediatric Cushing syndrome is uncommon but still occurs

    PubMed Central

    Gkourogianni, Alexandra; Lodish, Maya B.; Zilbermint, Mihail; Lyssikatos, Charalampos; Belyavskaya, Elena; Keil, Margaret F.; Stratakis, Constantine A.

    2014-01-01

    Cushing syndrome (CS) in children is rare. Delayed diagnosis and treatment of CS may be associated with increased morbidity and, unfortunately, mortality. We performed a retrospective review of all patients with CS under the age of 18 referred to the NIH from 1998 to 2013 in order to describe deceased patients among cases of pediatric CS referred to the National Institutes of Health (NIH). The deaths of 4 children (3 females and 1 male), aged 7.5–15.5 years (mean age 11.2 years) with length of disease 2–4 years were recorded among 160 (2.5%) children seen at, or referred to the NIH over the last 15 years. All died at different institutions, prior to coming to the NIH (two of them) or after leaving NIH (two of them). Presenting symptoms included increasing weight and decreasing height gain, facial plethora, dorsocervical fat pad (webbed neck), striae, headache, vision disturbances and depression and other mood or behavior changes; there were no differences between how these patients presented and the others in our cohort. The causes of CS in the deceased patients were also not different, in fact, they spanned the entire spectrum of CS: pituitary disease (on of them), ectopic corticotropin production (one of them), and primary adrenal hyperplasia (1). In one patient, the cause of CS could not be verified. Three died of sepsis and one due to residual disease and complications of the primary tumor. Conclusions Despite advances in early diagnosis and treatment of pediatric CS, a 2.5% mortality rate was identified in a large cohort of patients with this condition referred to an experienced, tertiary care referral center (although these deaths occurred elsewhere). Pediatricians need to recognize the possibility of death, primarily due to sepsis, in a patient with pediatric CS and act accordingly. PMID:25241829

  6. Commentary: The course of depression after childhood parental death - a reflection on Berg et al. (2016).

    PubMed

    Melhem, Nadine M; Brent, David

    2016-12-01

    Berg et al.'s study highlights the long-lasting impact of childhood parental death on depression in adulthood in the absence of early preventive and intervention efforts. Given the long-term effects of childhood parental death, it seems that the most propitious time to intervene is early on after the death. Several prevention and intervention approaches have been shown to reduce the incidence of depression and to ameliorate its course and thus could be potential approaches to intervene with parentally bereaved children. Future longitudinal studies focused on children and adolescents are also needed to examine the biological pathways that set the stage for increased vulnerability across the life span following childhood parental death and adversity in order to inform novel targets for interventions. © 2016 Association for Child and Adolescent Mental Health.

  7. Neuronal cell death in the Sudden Infant Death Syndrome brainstem and associations with risk factors.

    PubMed

    Machaalani, Rita; Waters, Karen A

    2008-01-01

    Immunoreactive expression of three cell death markers was quantitatively analysed in the human infant brainstem medulla. We assessed active caspase-3, TUNEL and single-stranded DNA (ssDNA) in a cohort of 92 infants, and analysed for: (i) variations in the immunoreactive expression with development; (ii) comparison of infants diagnosed with the Sudden Infant Death Syndrome (SIDS, n = 67) to infants who died suddenly with another diagnosis (non-SIDS, n = 25); and (iii) correlations with known clinical risk factors for SIDS. Five nuclei from the brainstem medulla (caudal and rostral levels) were studied, including the hypoglossal (XII), dorsal motor nucleus of the vagus (DMNV), the dorsal column nuclei (gracile and cuneate) and the arcuate nucleus. Our main hypothesis was that neuronal cell death would be increased in SIDS compared to non-SIDS infants, and the increase would correlate with risk factors such as prone sleeping and cigarette smoke exposure. Comparing SIDS to non-SIDS, there was an increase in caspase-3 in the rostral DMNV (P = 0.01), and a trend to increased TUNEL in the arcuate nucleus (P = 0.1), which was statistically significant when comparing the male SIDS to male non-SIDS cohort (P = 0.04). No major changes for ssDNA immunoreactivity were found. Moreover, TUNEL expression was affected by post-conceptional age, by sleep-related risk factors (predominantly affecting the dorsal column nuclei), and by cigarette smoke exposure in the rostral DMNV and arcuate nucleus. Active caspase-3 was affected by post-conceptional age but only in the XII, while gender-related differences were seen in the arcuate nucleus. This study provides further evidence of increased apoptosis in the brainstem of SIDS infants, but shows for the first time that these changes are also affected by age and gender, and by clinical risk factors such as the sleep position and cigarette smoke exposure.

  8. The metabolic syndrome in adult survivors of childhood cancer, a review.

    PubMed

    van Waas, Marjolein; Neggers, Sebastian J; van der Lelij, Aart-Jan; Pieters, Rob; van den Heuvel-Eibrink, Marry M

    2010-04-01

    The number of adult survivors of childhood cancer in the general population has increased. As reports on the prevalence of the metabolic syndrome in adult survivors of childhood cancer are scarce, we reviewed the available literature on the components of the metabolic syndrome in adult survivors of childhood cancer. Although there is a lack of studies estimating the prevalence of metabolic syndrome directly, especially prevalence of insulin resistance, obesity, and dyslipidemia is increased in certain groups. Therefore, adult survivors of childhood cancer are at increased risk of developing cerebrovascular and cardiovascular diseases. Accordingly, it is important to identify the predisposing factors of the metabolic syndrome in cohorts of survivors, to introduce medical interventions, and to subsequently decrease the risk of cerebrovascular and cardiovascular events.

  9. Childhood Sjögren syndrome: insights from adults and animal models.

    PubMed

    Lieberman, Scott M

    2013-09-01

    Sjögren syndrome is a chronic autoimmune disease affecting lacrimal and salivary glands that often is accompanied by extraglandular disease manifestations. Although common in adults, the prevalence and prognosis of childhood Sjögren syndrome are unknown, in part due to lack of child-specific diagnostic and classification criteria. This review discusses difficulties in diagnosing childhood Sjögren syndrome and highlights recent findings in Sjögren syndrome treatment and pathogenesis from studies in adults and animal models over the past 18 months. Studies of rituximab show some therapeutic potential in adult Sjögren syndrome, whereas newer modalities including gene therapy and mesenchymal stem cell transfer are promising. The pathogenesis of Sjögren syndrome is emerging, including roles of T and B lymphocytes, autoantibodies, interferons, and glandular epithelial cells. Specific recent notable findings in Sjögren syndrome pathogenesis include identification of a type II interferon signature in salivary glands of Sjögren syndrome patients, characterization of salivary gland-infiltrating T-cell subsets, and characterization of antimuscarinic acetylcholine receptor type 3 autoantibodies. Childhood Sjögren syndrome is a poorly defined and underdiagnosed autoimmune disease that requires child-specific criteria in order to study disease burden and prognosis. Studies in adults and animal models continue to elucidate new potential diagnostic and therapeutic targets, which may be relevant for childhood Sjögren syndrome. http://links.lww.com/COR/A3.

  10. The Metabolic Syndrome and Risk of Sudden Cardiac Death: The Atherosclerosis Risk in Communities Study.

    PubMed

    Hess, Paul L; Al-Khalidi, Hussein R; Friedman, Daniel J; Mulder, Hillary; Kucharska-Newton, Anna; Rosamond, Wayne R; Lopes, Renato D; Gersh, Bernard J; Mark, Daniel B; Curtis, Lesley H; Post, Wendy S; Prineas, Ronald J; Sotoodehnia, Nona; Al-Khatib, Sana M

    2017-08-23

    Prior studies have demonstrated a link between the metabolic syndrome and increased risk of cardiovascular mortality. Whether the metabolic syndrome is associated with sudden cardiac death is uncertain. We characterized the relationship between sudden cardiac death and metabolic syndrome status among participants of the ARIC (Atherosclerosis Risk in Communities) Study (1987-2012) free of prevalent coronary heart disease or heart failure. Among 13 168 participants, 357 (2.7%) sudden cardiac deaths occurred during a median follow-up of 23.6 years. Participants with the metabolic syndrome (n=4444) had a higher cumulative incidence of sudden cardiac death than those without it (n=8724) (4.1% versus 2.3%, P<0.001). After adjustment for participant demographics and clinical factors other than components of the metabolic syndrome, the metabolic syndrome was independently associated with sudden cardiac death (hazard ratio, 1.70, 95% confidence interval, 1.37-2.12, P<0.001). This relationship was not modified by sex (interaction P=0.10) or race (interaction P=0.62) and was mediated by the metabolic syndrome criteria components. The risk of sudden cardiac death varied according to the number of metabolic syndrome components (hazard ratio 1.31 per additional component of the metabolic syndrome, 95% confidence interval, 1.19-1.44, P<0.001). Of the 5 components, elevated blood pressure, impaired fasting glucose, and low high-density lipoprotein were independently associated with sudden cardiac death. We observed that the metabolic syndrome was associated with a significantly increased risk of sudden cardiac death irrespective of sex or race. The risk of sudden cardiac death was proportional to the number of metabolic syndrome components. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  11. Impact of Rotavirus Vaccination on Hospitalizations and Deaths From Childhood Gastroenteritis in Botswana.

    PubMed

    Enane, Leslie A; Gastañaduy, Paul A; Goldfarb, David M; Pernica, Jeffrey M; Mokomane, Margaret; Moorad, Banno; Masole, Lingani; Tate, Jacqueline E; Parashar, Umesh D; Steenhoff, Andrew P

    2016-05-01

    A monovalent human rotavirus vaccine (RV1) was introduced in Botswana in July 2012. We assessed the impact of RV1 vaccination on childhood gastroenteritis-related hospitalizations and deaths in 2013 and 2014. We obtained data from registers of 4 hospitals in Botswana on hospitalizations and deaths from gastroenteritis, regardless of cause, among children <5 years of age. Gastroenteritis hospitalizations and deaths during the prevaccine period (January 2009-December 2012) were compared to the postvaccine period (January 2013-December 2014). Vaccine coverage was estimated from data collected through a concurrent vaccine effectiveness study at the same hospitals. By December 2014, coverage with ≥1 dose of RV1 was an estimated 90% among infants <1 year of age and 76% among children 12-23 months of age. In the prevaccine period, the annual median number of gastroenteritis-related hospitalizations in children <5 years of age was 1212, and of gastroenteritis-related deaths in children <2 years of age was 77. In the postvaccine period, gastroenteritis-related hospitalizations decreased by 23% (95% confidence interval [CI], 16%-29%) to 937, and gastroenteritis-related deaths decreased by 22% (95% CI, -9% to 44%) to 60. Declines were most prominent during the rotavirus season (May-October) and among infants <1 year of age, with reductions of 43% (95% CI, 34%-51%) in gastroenteritis hospitalizations and 48% (95% CI, 11%-69%) in gastroenteritis deaths. Following introduction of RV1 into the national immunization program, significant declines in hospitalizations and deaths from gastroenteritis were observed among children in Botswana, suggestive of the beneficial public health impact of rotavirus vaccination. © The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.

  12. Impact of Rotavirus Vaccination on Hospitalizations and Deaths From Childhood Gastroenteritis in Botswana

    PubMed Central

    Enane, Leslie A.; Gastañaduy, Paul A.; Goldfarb, David M.; Pernica, Jeffrey M.; Mokomane, Margaret; Moorad, Banno; Masole, Lingani; Tate, Jacqueline E.; Parashar, Umesh D.; Steenhoff, Andrew P.

    2016-01-01

    Background. A monovalent human rotavirus vaccine (RV1) was introduced in Botswana in July 2012. We assessed the impact of RV1 vaccination on childhood gastroenteritis-related hospitalizations and deaths in 2013 and 2014. Methods. We obtained data from registers of 4 hospitals in Botswana on hospitalizations and deaths from gastroenteritis, regardless of cause, among children <5 years of age. Gastroenteritis hospitalizations and deaths during the prevaccine period (January 2009–December 2012) were compared to the postvaccine period (January 2013–December 2014). Vaccine coverage was estimated from data collected through a concurrent vaccine effectiveness study at the same hospitals. Results. By December 2014, coverage with ≥1 dose of RV1 was an estimated 90% among infants <1 year of age and 76% among children 12–23 months of age. In the prevaccine period, the annual median number of gastroenteritis-related hospitalizations in children <5 years of age was 1212, and of gastroenteritis-related deaths in children <2 years of age was 77. In the postvaccine period, gastroenteritis-related hospitalizations decreased by 23% (95% confidence interval [CI], 16%–29%) to 937, and gastroenteritis-related deaths decreased by 22% (95% CI, −9% to 44%) to 60. Declines were most prominent during the rotavirus season (May–October) and among infants <1 year of age, with reductions of 43% (95% CI, 34%–51%) in gastroenteritis hospitalizations and 48% (95% CI, 11%–69%) in gastroenteritis deaths. Conclusions. Following introduction of RV1 into the national immunization program, significant declines in hospitalizations and deaths from gastroenteritis were observed among children in Botswana, suggestive of the beneficial public health impact of rotavirus vaccination. PMID:27059352

  13. The cost of inpatient death associated with acute coronary syndrome

    PubMed Central

    Page, Robert L; Ghushchyan, Vahram; Van Den Bos, Jill; Gray, Travis J; Hoetzer, Greta L; Bhandary, Durgesh; Nair, Kavita V

    2016-01-01

    Background No studies have addressed the cost of inpatient mortality during an acute coronary syndrome (ACS) admission. Objective Compare ACS-related length of stay (LOS), total admission cost, and total admission cost by day of discharge/death for patients who died during an inpatient admission with a matched cohort discharged alive following an ACS-related inpatient stay. Methods Medical and pharmacy claims (2009–2012) were used to identify admissions with a primary diagnosis of ACS from patients with at least 6 months of continuous enrollment prior to an ACS admission. Patients who died during their ACS admission (deceased cohort) were matched (one-to-one) to those who survived (survived cohort) on age, sex, year of admission, Chronic Condition Index score, and prior revascularization. Mean LOS, total admission cost, and total admission cost by the day of discharge/death for the deceased cohort were compared with the survived cohort. A generalized linear model with log transformation was used to estimate the differences in the total expected incremental cost of an ACS admission and by the day of discharge/death between cohorts. A negative binomial model was used to estimate differences in the LOS between the two cohorts. Costs were inflated to 2013 dollars. Results A total of 1,320 ACS claims from patients who died (n=1,320) were identified and matched to 1,319 claims from the survived patients (n=1,319). The majority were men (68%) and mean age was 56.7±6.4 years. The LOS per claim for the deceased cohort was 47% higher (adjusted incidence rate ratio: 1.47, 95% confidence interval: 1.37–1.57) compared with claims from the survived cohort. Compared with the survived cohort, the adjusted mean incremental total cost of ACS admission claims from the deceased cohort was US$43,107±US$3,927 (95% confidence interval: US$35,411–US$50,803) higher. Conclusion Despite decreasing ACS hospitalizations, the economic burden of inpatient death remains high. PMID

  14. Teaching Child Care Providers to Reduce the Risk of SIDS (Sudden Infant Death Syndrome)

    ERIC Educational Resources Information Center

    Byington, Teresa; Martin, Sally; Reilly, Jackie; Weigel, Dan

    2011-01-01

    Keeping children safe and healthy is one of the main concerns of parents and child care providers. SIDS (Sudden Infant Death Syndrome) is the leading cause of death in infants 1 month to 12 months of age. Over 2,000 infants die from SIDS every year in the United States, and almost 15% of these deaths occur in child care settings. A targeted…

  15. Teaching Child Care Providers to Reduce the Risk of SIDS (Sudden Infant Death Syndrome)

    ERIC Educational Resources Information Center

    Byington, Teresa; Martin, Sally; Reilly, Jackie; Weigel, Dan

    2011-01-01

    Keeping children safe and healthy is one of the main concerns of parents and child care providers. SIDS (Sudden Infant Death Syndrome) is the leading cause of death in infants 1 month to 12 months of age. Over 2,000 infants die from SIDS every year in the United States, and almost 15% of these deaths occur in child care settings. A targeted…

  16. Parental Health Literacy and Outcomes of Childhood Nephrotic Syndrome.

    PubMed

    Borges, Karlota; Sibbald, Cathryn; Hussain-Shamsy, Neesha; Vasilevska-Ristovska, Jovanka; Banh, Tonny; Patel, Viral; Brooke, Josefina; Piekut, Monica; Reddon, Michele; Aitken-Menezes, Kimberly; McNaughton, Ashley; Pearl, Rachel J; Langlois, Valerie; Radhakrishnan, Seetha; Licht, Christoph P B; Piscione, Tino D; Levin, Leo; Noone, Damien; Hebert, Diane; Parekh, Rulan S

    2017-03-01

    Determine the association of parental health literacy with treatment response among children with nephrotic syndrome. This was a cohort study of children aged 1-18 with nephrotic syndrome and their parent. Health literacy was measured using the validated Short Test of Functional Health Literacy in Adults assessing reading comprehension and numeracy. Outcomes included initial relapse-free period, frequently relapsing disease, relapse rate, second-line medication use, and complete remission after therapy. Of 190 parents, 80% had adequate health literacy (score >67 of 100), and higher scores were not correlated with higher education. Almost all achieved perfect numeracy scores (>86%); numeracy was not associated with outcomes. After adjusting for immigration, education, and income, higher reading comprehension scores (tertile 3) compared with lower scores (tertile 1) were significantly associated with lower risk of first relapse (hazard ratio 0.67, 95% confidence interval [CI] 0.48-0.94, P trend = .02), lower odds of frequently relapsing disease (odds ratio [OR] 0.38, 95% CI 0.21-0.70, P trend = .002), lower relapse rate (rate ratio 0.77, 95% CI 0.73-0.80, P trend < .001), and higher odds of complete remission after both initial steroids and cyclophosphamide (OR 2.07, 95% CI 1.36-3.16, P trend = .003; OR 5.97, 95% CI 2.42-14.7, P trend < .001). Lower parental health literacy, specifically reading comprehension, is associated with higher relapse rates among children with nephrotic syndrome and fewer achieving complete remission. This underscores the importance of assessing and targeting health literacy for chronic management of childhood-onset diseases. Copyright © 2017 by the American Academy of Pediatrics.

  17. Attention in Williams syndrome and Down's syndrome: performance on the new early childhood attention battery.

    PubMed

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-06-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component functions of attention. The present study assessed children with WS and DS using a new preschool attention battery (ECAB: early childhood attention battery), designed to be suitable for mental age 3-6 years including groups with developmental disorders. The ECAB has the advantage of giving an individual profile of attentional abilities for each child, covering different components of attention. In relation to test norms for their mental age, both groups showed a profile of strengths and weaknesses in the attention domain. Both syndrome groups performed relatively well on tests of sustained attention and poorly on aspects of selective attention and attentional control (executive function). The DS group showed a specific strength in auditory sustained attention, whilst the WS group showed a particular deficit in visuo-spatial response control. There was also evidence for considerable differences in the developmental trajectory of these abilities across the two groups. The results provide evidence for syndrome-specific patterns of impairment, and distinct profiles of strengths and weaknesses that may be useful in understanding the nature of everyday attention difficulties in these groups and tailoring interventions to meet these needs.

  18. Environmental risk factors for sudden infant death syndrome in Japan.

    PubMed

    Hirabayashi, Masako; Yoshinaga, Masao; Nomura, Yuichi; Ushinohama, Hiroya; Sato, Seiichi; Tauchi, Nobuo; Horigome, Hitoshi; Takahashi, Hideto; Sumitomo, Naokata; Shiraishi, Hirohiko; Nagashima, Masami

    2016-12-01

    While the prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, this decline has plateaued recently. Strategies are needed to resume the constant decrease of SIDS in Japan. A prospective electrocardiographic screening program for infants was performed between July 2010 and March 2011. Parents of 4319 infants were asked about environmental factors related to SIDS through questionnaires at a one-month medical checkup and one year. Parental awareness of prone position, smoke exposure, and breast feeding as environmental factors were 81.4 %, 69.0 %, and 47.8 %, respectively. The prevalence of laying infants exclusively in a supine position was 96.7 %. At the one-month medical checkup, smoking prevalence was 41.7 % in fathers and 2.1 % in mothers. Maternal smoking prevalence was significantly increased at one year after (p < 0.001). Multivariate regression analysis showed that risk factors for new or continued maternal smoking habits were maternal smoking habits at one month (p < 0.001), paternal smoking habits one year later (p < 0.001), and younger maternal age (p = 0.02). Most parents already avoid laying infants in the prone position, and parental smoking is still a SIDS risk concern in Japan. Smoking cessation programs should be further implemented for parents to decrease risks of SIDS in Japan. What is Known: • The prevalence of sudden infant death syndrome (SIDS) has decreased worldwide, however, this decline has plateaued recently. What is New: • Most infants were laid sleeping in the supine position (96.7 %) and were fed breast milk or a mix of expressed milk and formula (92.7 %), and 2.1 % of mothers smoked at the one-month medical checkup. • Maternal smoking prevalence significantly increased from the one-month medical checkup to one year later, and smoking mothers were more likely to feed infants by formula rather than breast milk. • Independent risk factors for new or continued maternal smoking habits included

  19. Sudden infant death syndrome (SIDS): microgravity and inadequate sensory stimulation.

    PubMed

    Reid, G M

    2006-01-01

    In early gestation, the human foetus develops in a buoyant environment, which is similar to the near-weightlessness of space flight. After the 26th week of gestation, the foetus gradually becomes exposed to gravitational forces. The influence of fluid immersion declines as the weight of the foetus increases. In this way, the foetus adapts and trains for the gravity environment after birth. Failure of gravitational loading in the last trimester of pregnancy delays development and maintains the pathophysiological environment of microgravity as experienced by the astronaut in space flight. The deconditioning effects of microgravity during space flight are the reverse processes of intrauterine development after the 26th week when the foetus begins training body processes for adaptation to an earthly environment. Growth requires space and movement, which suggests that a growth-retarded foetus may have been deprived of the mechanical dimension of uterine wall pressure, and, in twins, the smaller sibling may have been deprived of space. The behaviour of a study group of sudden infant death syndrome infants suggested a continuation of the effects of the foetal akinesia syndrome during the third trimester period of gestation. NASA research into the pathophysiology of microgravity was based on a simple insight: that the physiological effects of human space travel were virtually identical to the adjustments the body makes when lying down. This is the same environment as that of the human foetus in the first 22 weeks of gestation after which the uterine environment becomes a prelude to adaptations to the force of gravity.

  20. Sudden Infant Death Syndrome and the Genetics of Inflammation

    PubMed Central

    Ferrante, Linda; Opdal, Siri Hauge

    2015-01-01

    Several studies report signs of slight infection prior to death in cases of sudden infant death syndrome (SIDS). Based on this, a hypothesis of an altered immunological homeostasis has been postulated. The cytokines are important cellular mediators that are crucial for infant health by regulating cell activity during the inflammatory process. The pro-inflammatory cytokines favor inflammation; the most important of these are IL-1α, IL-1β, IL-6, IL-8, IL-12, IL-18, TNF-α, and IFN-γ. These cytokines are controlled by the anti-inflammatory cytokines. This is accomplished by reducing the pro-inflammatory cytokine production, and thus counteracts their biological effect. The major anti-inflammatory cytokines are interleukin-1 receptor antagonist (IL-1ra), IL-4, IL-10, IL-11, and IL-13. The last decade there has been focused on genetic studies within genes that are important for the immune system, for SIDS with a special interest of the genes encoding the cytokines. This is because the cytokine genes are considered to be the genes most likely to explain the vulnerability to infection, and several studies have investigated these genes in an attempt to uncover associations between SIDS and different genetic variants. So far, the genes encoding IL-1, IL-6, IL-10, and TNF-α are the most investigated within SIDS research, and several studies indicate associations between specific variants of these genes and SIDS. Taken together, this may indicate that in at least a subset of SIDS predisposing genetic variants of the immune genes are involved. However, the immune system and the cytokine network are complex, and more studies are needed in order to better understand the interplay between different genetic variations and how this may contribute to an unfavorable immunological response. PMID:25750641

  1. Childhood death attributable to trauma: is there a difference between accidental and abusive fatal injuries?

    PubMed

    Ortega, Henry W; Vander Velden, Heidi; Kreykes, Nathaniel S; Reid, Samuel

    2013-09-01

    Trauma is a leading cause of death among children worldwide. Detailed knowledge of the epidemiology of childhood fatal injuries is necessary for preventing injuries. To determine clinical differences between children who were treated in an emergency department for accidental or abusive injuries. A retrospective review of all deceased patients who were treated in two urban pediatric emergency departments between 1998 and 2010 was performed. Patients were categorized into two groups, accidental and abusive, for comparison. A total of 1498 patients died during the study period, with 124 deaths being attributable to injury for a rate of 9.5 injury-related deaths per year. Most fatal injuries were accidental. Children with abusive fatal injuries were younger and more likely to have been seen for an injury in a clinic or emergency department within 2 months of their death. Eighty-two percent of abusive fatal injuries had documented subdural hematomas, whereas only 7.2% of accidental fatal injuries had a subdural hematoma documented. Nearly 50% of abusive fatal injuries had retinal hemorrhages reported, although no child with an accidental fatal injury had this type of injury documented. Younger children, especially those previously seen in an emergency department or clinic for injury, are more likely to sustain an abusive fatal injury. Sentinel physical findings associated with abusive fatal injuries include subdural hematomas and retinal hemorrhages, and the presence of these findings should prompt an investigation into the circumstances of injury. Copyright © 2013 Elsevier Inc. All rights reserved.

  2. Factors related to childhood suicides: analysis of the Queensland Child Death Register.

    PubMed

    Soole, Rebecca; Kõlves, Kairi; De Leo, Diego

    2014-01-01

    Suicide among children under the age of 15 years is a leading cause of death. The aim of the current study is to identify demographic, psychosocial, and psychiatric factors associated with child suicides. Using external causes of deaths recorded in the Queensland Child Death Register, a case-control study design was applied. Cases were suicides of children (10-14 years) and adolescents (15-17 years); controls were other external causes of death in the same age band. Between 2004 and 2012, 149 suicides were recorded: 34 of children aged 10-14 years and 115 of adolescents aged 15-17 years. The gender asymmetry was less evident in child suicides and suicides were significantly more prevalent in indigenous children. Children residing in remote areas were significantly more likely to die by suicide than other external causes compared with children in metropolitan areas. Types of precipitating events differed between children and adolescents, with children more likely to experience family problems. Disorders usually diagnosed during infancy, childhood, and adolescence (e.g., ADHD) were significantly more common among children compared with adolescents who died by suicide. Psychosocial and environmental aspects of children, in addition to mental health and behavioral difficulties, are important in the understanding of suicide in this age group and in the development of targeted suicide prevention.

  3. Surgical management of tumors producing the thalamopeduncular syndrome of childhood

    PubMed Central

    Broadway, S. Jared; Ogg, Robert J.; Scoggins, Matthew A.; Sanford, Robert; Patay, Zoltan; Boop, Frederick A.

    2012-01-01

    of the tracts and another had lateral deviation, facilitating a transtemporal and a transfrontal approach, respectively. Conclusions The thalamopeduncular syndrome of progressive spastic hemiparesis presenting in children with or without symptoms of headache should alert the examiner to the possibility of a tumoral involvement of CSTs. Preoperative tractography is a useful adjunct to surgical planning in tumors that displace motor pathways. Gross-total resection of pilocytic astrocytomas usually results in cure, and therefore should be entertained when developing a treatment strategy for thalamopeduncular tumors of childhood. PMID:21631193

  4. Surgical management of tumors producing the thalamopeduncular syndrome of childhood.

    PubMed

    Broadway, S Jared; Ogg, Robert J; Scoggins, Matthew A; Sanford, Robert; Patay, Zoltan; Boop, Frederick A

    2011-06-01

    another had lateral deviation, facilitating a transtemporal and a transfrontal approach, respectively. The thalamopeduncular syndrome of progressive spastic hemiparesis presenting in children with or without symptoms of headache should alert the examiner to the possibility of a tumoral involvement of CSTs. Preoperative tractography is a useful adjunct to surgical planning in tumors that displace motor pathways. Gross-total resection of pilocytic astrocytomas usually results in cure, and therefore should be entertained when developing a treatment strategy for thalamopeduncular tumors of childhood.

  5. Systems-level perspective of sudden infant death syndrome.

    PubMed

    Salomonis, Nathan

    2014-09-01

    Sudden infant death syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. Although the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological, and environmental (i.e., infant sleep) factors. Thus, a comprehensive and evolving systems-level model is required to understand SIDS susceptibility. Such models, by being powerful enough to uncover indirect associations, could be used to expand our list of candidate targets for in-depth analysis. We present an integrated WikiPathways model for SIDS susceptibility that includes associated cell systems, signaling pathways, genetics, and animal phenotypes. Experimental and literature-based gene-regulatory data have been integrated into this model to identify intersecting upstream control elements and associated interactions. To expand this pathway model, we performed a comprehensive analysis of existing proteomics data from brainstem samples of infants with SIDS. From this analysis, we discovered changes in the expression of several proteins linked to known SIDS pathologies, including factors involved in glial cell production, hypoxia regulation, and synaptic vesicle release, in addition to interactions with annotated SIDS markers. Our results highlight new targets for further consideration that further enrich this pathway model, which, over time, can improve as a wiki-based, community curation project.

  6. A Systems-Level Perspective of Sudden Infant Death Syndrome

    PubMed Central

    Salomonis, Nathan

    2014-01-01

    Sudden Infant Death Syndrome (SIDS) remains one of the primary causes of infant mortality in developed countries. While the causes of SIDS remain largely inconclusive, some of the most informative associations implicate molecular, genetic, anatomical, physiological and environmental (i.e., infant sleep) factors. Thus, a comprehensive and evolving systems-level model is required to understand SIDS susceptibility. Such models, by being powerful enough to uncover indirect associations, could be used to expand our list of candidate targets for in-depth analysis. We present an integrated WikiPathways model for SIDS susceptibility that includes associated cell systems, signaling pathways, genetics and animal phenotypes. Experimental and literature-based gene-regulatory data has been integrated into this model, to identify intersecting upstream control elements and associated interactions. To expand this pathway model, we performed a comprehensive analysis of existing proteomics data from brainstem samples of SIDS infants. From this analysis, we discovered changes in the expression of several proteins linked to known SIDS pathologies, including factors involved in glial cell production, hypoxia regulation, and synaptic vesicle release, in addition to interactions with annotated SIDS markers. Our results highlight new targets for further consideration that further enrich this pathway model, which, over time, can improve as a wiki-based, community curation project. PMID:24964230

  7. Defining Sudden Infant Death and Sudden Intrauterine Unexpected Death Syndromes with Regard to Anatomo-Pathological Examination

    PubMed Central

    Ottaviani, Giulia

    2016-01-01

    Crib death, or sudden infant death syndrome (SIDS), is the most frequent form of death in the first year of life, striking one baby in every 1,700–2,000. Yet, despite advances in maternal–infant care, sudden intrauterine unexplained/unexpected death syndrome (SIUDS) has a sixfold to eightfold greater incidence than that of SIDS. Frequent congenital abnormalities, likely morphological substrates for SIDS–SIUDS, were detected, mainly represented by alterations of the cardiac conduction system, such as accessory pathways and abnormal resorptive degeneration, and hypoplasia/agenesis of the vital brainstem structures. On the basis of these considerations, the new common definition of the SIDS–SIUDS complex is “The sudden death of a fetus after the 25th gestational week or infant under one year of age which is unexpected by history and remains unexplained after a thorough case investigation, including examination of the death scene, performance of a general autopsy and examination of the fetal adnexa”. Therefore, given that the general autopsy does not disclose any cause of death, a more in-depth histopathological analysis of the cardiac conduction system and autonomic nervous system by specialized pathologists is necessary. PMID:27709109

  8. Speech Intelligibility and Childhood Verbal Apraxia in Children with Down Syndrome

    ERIC Educational Resources Information Center

    Kumin, Libby

    2006-01-01

    Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily…

  9. Speech Intelligibility and Childhood Verbal Apraxia in Children with Down Syndrome

    ERIC Educational Resources Information Center

    Kumin, Libby

    2006-01-01

    Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily…

  10. Motor recovery after Guillain-Barré syndrome in childhood.

    PubMed

    Ortiz-Corredor, Fernando; Peña-Preciado, Marta; Díaz-Ruíz, Jorge

    To determine the clinical factors that modify the recovery time for gait after Guillain-Barré syndrome (GBS) in childhood. Medical records of patients admitted to Instituto de Ortopedia Infantil Roosevelt (IOIR) between years 1991 and 2001, were reviewed. Age, sex, cranial nerve impairment, requirement of assisted ventilation, number of days of assisted ventilation, muscular strength at day 10 of the disease, presence of quadriplegia, intravenous infusion of human gamma globulins (IVIG), were taken as independent variables. The number of needed days to reach Hughes State III was taken as the major outcome. First, univariate analysis was performed and with the factors that showed a statistically significant association with recovery time, multiple linear regression analysis and Cox regression were also performed. Data of 332 children under 15 years old was collected. (Mean age: 7.1 years). A sample of 215 children was gathered for the study, all of them were regarded as functional states IV or V. Acute Motor Axonal Neuropathy (AMAN) was found in 30% of all cases. In the univariate analysis Cranial nerve impairment, requirement of assisted ventilation, presence of quadriplegia and presence of non-excitable motor nerves were associated with delayed motor recovery time. Patients who received IVIG reached Hughes state III faster than those who received only support treatment. This finding, that was more important in the presence of Acute Inflammatory Demyelinating Polyradiculoneuropathy (AIDP), lost its value in the Cox regression analysis. In the multivariate analysis, muscular strength, assessed at day 10 of the disease was the most important predictor to determine motor recovery. The presence of quadriplegia was strongly associated with a delayed recovery time. Relative risk: 3.3 (95% Confidence Interval 2.1 - 5.2). Muscular strength at day 10 of the disease is the most useful clinical factor to determine prognosis of motor recovery in children who have suffered

  11. Childhood parental death and lifetime suicide attempt of the opposite-gender offspring in a nationwide community sample of Korea.

    PubMed

    Jeon, Hong Jin; Hong, Jin Pyo; Fava, Maurizio; Mischoulon, David; Nyer, Maren; Inamori, Aya; Sohn, Jee Hoon; Seong, Sujeong; Cho, Maeng Je

    2013-12-01

    Although previous studies have shown that childhood parental death influences suicide attempts of their offspring, few studies have examined influence of gender and age at exposure. Koreans show the third highest suicide rate in the world, and many children and adolescents lost their parents during and after the Korean War. A total of 12,532 adults, randomly selected through a one-person-per-household method, completed the Korean version of the Composite International Diagnostic Interview and questionnaire for suicidal ideation, plan, and attempt (response rate 80.2%). A total of 2,332 subjects experienced biological parental death in childhood (18.6%). Male suicide attempts were associated with age of exposure to maternal death from 0 to 4 years (adjusted OR = 4.48, 95% CI 1.32-15.18) and from 5 to 9 years (adjusted OR = 5.52, 95% CI 1.97-16.46), but not with paternal death, after adjusting for age, education years, marital status, monthly income, and psychiatric comorbidities. Female suicide attempts were associated with paternal death from 5 to 9 years (adjusted OR = 2.20, 95% CI 1.13-4.27), but not with maternal death. Childhood parental death is significantly associated with lifetime suicide attempt in the opposite-gender offspring, especially when exposure occurs before age 10.

  12. Nitrates in drinking water and the risk of death from childhood brain tumors in Taiwan.

    PubMed

    Weng, Hsu-Huei; Tsai, Shang-Shyue; Wu, Trong-Neng; Sung, Fung-Chang; Yang, Chun-Yuh

    2011-01-01

    The objective of this study was to (1) examine the relationship between nitrate (NO₃-N) levels in public water supplies and risk of death from childhood brain tumors (CBT) and (2) determine whether calcium (Ca) and magnesium (Mg) levels in drinking water might modify the effects of NO₃-N on development of CBT. A matched cancer case-control study was used to investigate the relationship between the risk of death attributed to CBT and exposure to NO₃-N in drinking water in Taiwan. All CBT deaths of Taiwan residents from 1999 through 2008 were obtained from the Bureau of Vital Statistics of the Taiwan Provincial Department of Health. Controls were deaths from other causes and were pair-matched to the cases by gender, year of birth, and year of death. Information on the levels of nitrate-nitrogen NO₃-N, Ca, and Mg in drinking water were collected from Taiwan Water Supply Corporation. The municipality of residence for CBT cases and controls was presumed to be the source of the subject's NO₃-N, Ca, and Mg exposure via drinking water. Relative to individuals whose NO₃-N exposure level was ≤ 0.31 ppm, and the adjusted odds ration (OR) (95% confidence interval [CI]) for CBT occurrence was 1.4 (1.07-1.84) for individuals who resided in municipalities served by drinking water with a NO₃-N exposure > 0.31 ppm. No significant effect modification was observed by Ca and Mg intake via drinking water. Data suggest that exposure to NO₃-N in drinking water is associated with a higher risk of CBT development in Taiwan.

  13. Childhood diarrhoeal deaths in seven low- and middle-income countries.

    PubMed

    Rahman, Ahmed Ehsanur; Moinuddin, Md; Molla, Mitike; Worku, Alemayehu; Hurt, Lisa; Kirkwood, Betty; Mohan, Sanjana Brahmawar; Mazumder, Sarmila; Bhutta, Zulfiqar; Raza, Farrukh; Mrema, Sigilbert; Masanja, Honorati; Kadobera, Daniel; Waiswa, Peter; Bahl, Rajiv; Zangenberg, Mike; Muhe, Lulu

    2014-09-01

    To investigate the clinical characteristics of children who died from diarrhoea in low- and middle-income countries, such as the duration of diarrhoea, comorbid conditions, care-seeking behaviour and oral rehydration therapy use. The study included verbal autopsy data on children who died from diarrhoea between 2000 and 2012 at seven sites in Bangladesh, Ethiopia, Ghana, India, Pakistan, Uganda and the United Republic of Tanzania, respectively. Data came from demographic surveillance sites, randomized trials and an extended Demographic and Health Survey. The type of diarrhoea was classified as acute watery, acute bloody or persistent and risk factors were identified. Deaths in children aged 1 to 11 months and 1 to 4 years were analysed separately. The proportion of childhood deaths due to diarrhoea varied considerably across the seven sites from less than 3% to 30%. Among children aged 1-4 years, acute watery diarrhoea accounted for 31-69% of diarrhoeal deaths, acute bloody diarrhoea for 12-28%, and persistent diarrhoea for 12-56%. Among infants aged 1-11 months, persistent diarrhoea accounted for over 30% of diarrhoeal deaths in Ethiopia, India, Pakistan, Uganda and the United Republic of Tanzania. At most sites, more than 40% of children who died from persistent diarrhoea were malnourished. Persistent diarrhoea remains an important cause of diarrhoeal death in young children in low- and middle-income countries. Research is needed on the public health burden of persistent diarrhoea and current treatment practices to understand why children are still dying from the condition.

  14. Childhood diarrhoeal deaths in seven low- and middle-income countries

    PubMed Central

    Rahman, Ahmed Ehsanur; Moinuddin, Md; Molla, Mitike; Worku, Alemayehu; Hurt, Lisa; Kirkwood, Betty; Mohan, Sanjana Brahmawar; Mazumder, Sarmila; Bhutta, Zulfiqar; Raza, Farrukh; Mrema, Sigilbert; Masanja, Honorati; Kadobera, Daniel; Waiswa, Peter; Bahl, Rajiv; Zangenberg, Mike

    2014-01-01

    Abstract Objective To investigate the clinical characteristics of children who died from diarrhoea in low- and middle-income countries, such as the duration of diarrhoea, comorbid conditions, care-seeking behaviour and oral rehydration therapy use. Methods The study included verbal autopsy data on children who died from diarrhoea between 2000 and 2012 at seven sites in Bangladesh, Ethiopia, Ghana, India, Pakistan, Uganda and the United Republic of Tanzania, respectively. Data came from demographic surveillance sites, randomized trials and an extended Demographic and Health Survey. The type of diarrhoea was classified as acute watery, acute bloody or persistent and risk factors were identified. Deaths in children aged 1 to 11 months and 1 to 4 years were analysed separately. Findings The proportion of childhood deaths due to diarrhoea varied considerably across the seven sites from less than 3% to 30%. Among children aged 1–4 years, acute watery diarrhoea accounted for 31–69% of diarrhoeal deaths, acute bloody diarrhoea for 12–28%, and persistent diarrhoea for 12–56%. Among infants aged 1–11 months, persistent diarrhoea accounted for over 30% of diarrhoeal deaths in Ethiopia, India, Pakistan, Uganda and the United Republic of Tanzania. At most sites, more than 40% of children who died from persistent diarrhoea were malnourished. Conclusion Persistent diarrhoea remains an important cause of diarrhoeal death in young children in low- and middle-income countries. Research is needed on the public health burden of persistent diarrhoea and current treatment practices to understand why children are still dying from the condition. PMID:25378757

  15. Interventions to address deaths from childhood pneumonia and diarrhoea equitably: what works and at what cost?

    PubMed

    Bhutta, Zulfiqar A; Das, Jai K; Walker, Neff; Rizvi, Arjumand; Campbell, Harry; Rudan, Igor; Black, Robert E

    2013-04-20

    Global mortality in children younger than 5 years has fallen substantially in the past two decades from more than 12 million in 1990, to 6·9 million in 2011, but progress is inconsistent between countries. Pneumonia and diarrhoea are the two leading causes of death in this age group and have overlapping risk factors. Several interventions can effectively address these problems, but are not available to those in need. We systematically reviewed evidence showing the effectiveness of various potential preventive and therapeutic interventions against childhood diarrhoea and pneumonia, and relevant delivery strategies. We used the Lives Saved Tool model to assess the effect on mortality when these interventions are applied. We estimate that if implemented at present annual rates of increase in each of the 75 Countdown countries, these interventions and packages of care could save 54% of diarrhoea and 51% of pneumonia deaths by 2025 at a cost of US$3·8 billion. However, if coverage of these key evidence-based interventions were scaled up to at least 80%, and that for immunisations to at least 90%, 95% of diarrhoea and 67% of pneumonia deaths in children younger than 5 years could be eliminated by 2025 at a cost of $6·715 billion. New delivery platforms could promote equitable access and community platforms are important catalysts in this respect. Furthermore, several of these interventions could reduce morbidity and overall burden of disease, with possible benefits for developmental outcomes.

  16. Peripheral arterial chemoreceptors and sudden infant death syndrome.

    PubMed

    Gauda, Estelle B; Cristofalo, Elizabeth; Nunez, Jeanne

    2007-07-01

    Sudden infant death syndrome (SIDS) is the major cause of death in infants between 1 month and 1 year of age. Two particular concerns are that (1) premature or low birth weight (<2500-g) infants have a 2- to 40-fold greater risk of dying of SIDS (depending on the sleep position) than infants born at term and of normal birth weight, and that (2) the proportion of premature infants dying of SIDS has increased from 12 to 34% between 1988 and 2003. Hypo- and hypersensitivity of peripheral arterial chemoreceptors (PACs) may be one biological mechanism that could help to explain the epidemiological association between the increased incidence of SIDS in formerly premature infants. Because premature infants are often exposed to the extremes of oxygen stress during early postnatal development, they are more likely to have a maladaptive response of PACs later in their lives. As the first line of defense that mediates an increase in ventilation to a hypoxic challenge during wakefulness and sleep, PACs also mediate arousal responses during sleep in response to an asphyxial event that is often associated with upper airway obstruction. In most mammalian species, PACs are not fully developed at birth and thus are vulnerable to plasticity-induced changes mediated by environmental exposures such as the extremes of oxygen tension. Hypoxic or hyperoxic exposure during early postnatal development can lead to hyposensitive or hypersensitive PAC responses later in life. Although baseline chemoreceptor activity may not be the cause of an initial hypoxic or asphyxial event, the level of peripheral chemoreceptor drive does modulate the (1) time to arousal, (2) resumption of airflow during airway obstruction, (3) escape behaviors during rebreathing, and (4) cardiorespiratory responses that result from activation of the laryngeal chemoreflex. The laryngeal chemoreflex can be stimulated by reflux of gastric contents above the upper esophageal sphincter, or an increase in nasopharyngeal

  17. Utility of the National Death Index in Ascertaining Mortality in Acquired Immunodeficiency Syndrome Surveillance

    PubMed Central

    Trepka, Mary Jo; Maddox, Lorene M.; Lieb, Spencer; Niyonsenga, Theophile

    2011-01-01

    To assess the utility of the National Death Index (NDI) in improving the ascertainment of deaths among people diagnosed with acquired immunodeficiency syndrome (AIDS), the authors determined the number and characteristics of additional deaths identified through NDI linkage not ascertained by using standard electronic linkage with Florida Vital Records and the Social Security Administration’s Death Master File. Records of people diagnosed with acquired immunodeficiency syndrome between 1993 and 2007 in Florida were linked to the NDI. The demographic characteristics and reported human immunodeficiency virus (HIV) transmission modes of people whose deaths were identified by using the NDI were compared with those whose deaths were ascertained by standard linkage methods. Of the 15,094 submitted records, 719 had confirmed matches, comprising 2.1% of known deaths (n = 34,504) within the cohort. Hispanics, males, people 40 years of age or older, and injection drug users were overrepresented among deaths ascertained only by the NDI. In-state deaths comprised 59.0% of newly identified deaths, and human immunodeficiency virus was less likely to be a cause of death among newly identified compared with previously identified deaths. The newly identified deaths were not previously ascertained principally because of slight differences in personal identifying information and could have been identified through improved linkages with Florida Vital Records. PMID:21540319

  18. Utility of the National Death Index in ascertaining mortality in acquired immunodeficiency syndrome surveillance.

    PubMed

    Trepka, Mary Jo; Maddox, Lorene M; Lieb, Spencer; Niyonsenga, Theophile

    2011-07-01

    To assess the utility of the National Death Index (NDI) in improving the ascertainment of deaths among people diagnosed with acquired immunodeficiency syndrome (AIDS), the authors determined the number and characteristics of additional deaths identified through NDI linkage not ascertained by using standard electronic linkage with Florida Vital Records and the Social Security Administration's Death Master File. Records of people diagnosed with acquired immunodeficiency syndrome between 1993 and 2007 in Florida were linked to the NDI. The demographic characteristics and reported human immunodeficiency virus (HIV) transmission modes of people whose deaths were identified by using the NDI were compared with those whose deaths were ascertained by standard linkage methods. Of the 15,094 submitted records, 719 had confirmed matches, comprising 2.1% of known deaths (n = 34,504) within the cohort. Hispanics, males, people 40 years of age or older, and injection drug users were overrepresented among deaths ascertained only by the NDI. In-state deaths comprised 59.0% of newly identified deaths, and human immunodeficiency virus was less likely to be a cause of death among newly identified compared with previously identified deaths. The newly identified deaths were not previously ascertained principally because of slight differences in personal identifying information and could have been identified through improved linkages with Florida Vital Records.

  19. β-Amyloid precursor protein staining of the brain in sudden infant and early childhood death.

    PubMed

    Jensen, Lisbeth Lund; Banner, Jytte; Ulhøi, Benedicte Parm; Byard, Roger W

    2014-06-01

    To develop and validate a scoring method for assessing β-amyloid precursor protein (APP) staining in cerebral white matter and to investigate the occurrence, amount and deposition pattern based on the cause of death in infants and young children. Archival cerebral tissue was examined from a total of 176 cases (0 to 3 years of age). Each of the APP-stained sections was graded according to a simple scoring system based on the number and type of changes in eight anatomical regions. Examination of the sections revealed some degree of APP staining in 95% of the cases. The highest mean APP scores were found in cases of head trauma, and the lowest scores were found in the cases of drowning. APP staining, although sometimes minimal, was found in all 48 cases of and sudden infant death syndrome (SIDS). Patterns of APP staining (the amount and distribution) were different in cases of head trauma, infection and SIDS but were similar in the SIDS and asphyxia groups. This study demonstrates the use of an integrated scoring system that was developed to assess APP staining in the brain. APP staining was seen in a high proportion of cases, including relatively sudden deaths. The amount of APP was significantly higher in cases of trauma than in nontraumatic deaths. However, APP was detected within all groups. The pattern of APP staining was similar in infants who had died of SIDS and from mechanical asphyxia. © 2013 British Neuropathological Society.

  20. Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood.

    PubMed

    Bougnères, Pierre; Pantalone, Letitia; Linglart, Agnès; Rothenbühler, Anya; Le Stunff, Catherine

    2008-10-01

    Rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor (ROHHADNET) is a newly described syndrome that can cause cardiorespiratory arrests and death. It mimics several endocrine disorders or genetic obesity syndromes during early childhood and is associated with various forms of hypothalamic-pituitary endocrine dysfunctions that have not yet been fully investigated. The current report aspires to facilitate the earlier recognition and appropriate treatment of the ROHHADNET syndrome when children present with various endocrine manifestations, such as early obesity, growth failure, pseudo-Cushing's syndrome, glucocorticoid insufficiency, congenital hypopituitarism, or adrenal tumors. A more widespread knowledge of the syndrome will help characterize its molecular origin. Endocrine studies were performed in six patients admitted for seemingly common early-onset obesity associated with growth failure in five of them. The six patients later showed distinctive features of the ROHHADNET syndrome. Abnormalities of the pituitary adrenal axis ranged from a true Cushing-like profile (one of six), to glucocorticoid deficiency with normal ACTH (two of six). Complete GH deficiency with low IGF-I was observed in four of six, hypogonadotropic hypogonadism in four of six, hyperprolactinemia in six of six, and various degrees of TSH/T(4) abnormalities in five of five patients. All had increased natremia without diabetes insipidus. Five children had unilateral macroscopic adrenal ganglioneuroma. Two patients died at 8.5 and 12 yr of age. Various hypothalamic-pituitary endocrine dysfunctions are associated with ROHHADNET, carrying a risk of misdiagnosis until other elements of the syndrome make it more easily recognizable. Given its severity, ROHHADNET syndrome should be considered in all cases of isolated, rapid, and early obesity.

  1. Cigarette Smoking as a Risk Factor for Sudden Infant Death Syndrome: A Population-Based Study.

    ERIC Educational Resources Information Center

    Haglund, Bengt; Cnattingius, Sven

    1990-01-01

    Examines risk factors for sudden infant death syndrome based on Swedish births between 1983 and 1985. Results indicate that maternal smoking doubles the risk of infant death, and infants of smokers also died sooner. The more the mother smoked the more likely her infant was to die. (JS)

  2. Cigarette Smoking as a Risk Factor for Sudden Infant Death Syndrome: A Population-Based Study.

    ERIC Educational Resources Information Center

    Haglund, Bengt; Cnattingius, Sven

    1990-01-01

    Examines risk factors for sudden infant death syndrome based on Swedish births between 1983 and 1985. Results indicate that maternal smoking doubles the risk of infant death, and infants of smokers also died sooner. The more the mother smoked the more likely her infant was to die. (JS)

  3. Cognitive and Behavioral Functioning in Childhood Acquired Demyelinating Syndromes.

    PubMed

    Till, Christine; Noguera, Austin; Verhey, Leonard H; O'Mahony, Julia; Yeh, E Ann; Mah, Jean K; Sinopoli, Katia J; Brooks, Brian L; Aubert-Broche, Berengere; Collins, D Louis; Narayanan, Sridar; Arnold, Douglas L; Banwell, Brenda L

    2016-11-01

    The aim of this study was to describe cognitive, academic, and psychosocial outcomes after an incident demyelinating event (acquired demyelinating syndromes, ADS) in childhood and to investigate the contribution of brain lesions and confirmed MS diagnosis on outcome. Thirty-six patients with ADS (mean age=12.2 years, SD=2.7, range: 7-16 years) underwent brain MRI scans at presentation and at 6-months follow-up. T2-weighted lesions on MRI were assessed using a binary classification. At 6-months follow-up, patients underwent neuropsychological evaluation and were compared with 42 healthy controls. Cognitive, academic, and behavioral outcomes did not differ between the patients with ADS and controls. Three of 36 patients (8.3%) were identified with cognitive impairment, as determined by performance falling ≤1.5 SD below normative values on more than four independent tests in the battery. Poor performance on a visuomotor integration task was most common, observed among 6/32 patients, but this did not differ significantly from controls. Twelve of 36 patients received a diagnosis of MS within 3 years post-ADS. Patients with MS did not differ from children with monophasic ADS in terms of cognitive performance at the 6-months follow-up. Fatigue symptoms were reported in 50% of patients, irrespective of MS diagnosis. Presence of brain lesions at onset and 6 months post-incident demyelinating event did not associate with cognitive outcome. Children with ADS experience a favorable short-term neurocognitive outcome, even those confirmed to have MS. Longitudinal evaluations of children with monophasic ADS and MS are required to determine the possibility of late-emerging sequelae and their time course. (JINS, 2016, 22, 1050-1060).

  4. Auriculotemporal (Frey) syndrome in late childhood: an unusual variant presenting as gustatory flushing mimicking food allergy.

    PubMed

    Kaddu, S; Smolle, J; Komericki, P; Kerl, H

    2000-01-01

    Auriculotemporal or Frey syndrome is characterized mainly by recurrent episodes of facial gustatory flushing and/or sweating, limited to the cutaneous distribution of the auriculotemporal nerve. Although relatively common in adults following injury to the auriculotemporal nerve or parotid disease, the condition has rarely been reported in children. Moreover, in childhood, auriculotemporal syndrome has been described mainly in infancy and early childhood as a sequel of perinatal birth trauma resulting from assisted forceps delivery. We report a 13-year-old girl with a 2-month history of recurrent, painless, preauricular gustatory flushing without sweating, initially suspected to be a food allergy. Detailed inquiry revealed a history of a bicycle accident with mandibular condyle fracture 7 years prior to the onset of symptoms. Our patient demonstrates an unusual presentation of auriculotemporal syndrome in late childhood as gustatory flushing mimicking food allergy. Awareness of this variant is essential for prompt recognition, thus avoiding unnecessary laboratory tests, especially as this condition usually resolves spontaneously.

  5. Brainstem Serotonergic Deficiency in Sudden Infant Death Syndrome

    PubMed Central

    Duncan, Jhodie R.; Paterson, David S.; Hoffman, Jill M.; Mokler, David J.; Borenstein, Natalia S.; Belliveau, Richard A.; Krous, Henry F.; Haas, Elisabeth A.; Stanley, Christina; Nattie, Eugene E.; Trachtenberg, Felicia L.; Kinney, Hannah C.

    2011-01-01

    Context Sudden infant death syndrome (SIDS) is postulated to result from abnormalities in brainstem control of autonomic function and breathing during a critical developmental period. Abnormalities of serotonin (5-hydroxytryptamine [5-HT]) receptor binding in regions of the medulla oblongata involved in this control have been reported in infants dying from SIDS. Objective To test the hypothesis that 5-HT receptor abnormalities in infants dying from SIDS are associated with decreased tissue levels of 5-HT, its key biosynthetic enzyme (tryptophan hydroxylase [TPH2]), or both. Design, Setting, and Participants Autopsy study conducted to analyze levels of 5-HT and its metabolite, 5-hydroxyindoleacetic acid (5-HIAA); levels of TPH2; and 5-HT1A receptor binding. The data set was accrued between 2004 and 2008 and consisted of 41 infants dying from SIDS (cases), 7 infants with acute death from known causes (controls), and 5 hospitalized infants with chronic hypoxia-ischemia. Main Outcome Measures Serotonin and metabolite tissue levels in the raphé obscurus and paragigantocellularis lateralis (PGCL); TPH2 levels in the raphé obscurus; and 5-HT1A binding density in 5 medullary nuclei that contain 5-HT neurons and 5 medullary nuclei that receive 5-HT projections. Results Serotonin levels were 26% lower in SIDS cases (n = 35) compared with age-adjusted controls (n = 5) in the raphé obscurus (55.4 [95% confidence interval {CI}, 47.2–63.6] vs 75.5 [95% CI, 54.2–96.8] pmol/mg protein, P = .05) and the PGCL (31.4 [95% CI, 23.7–39.0] vs 40.0 [95% CI, 20.1–60.0] pmol/mg protein, P = .04). There was no evidence of excessive 5-HT degradation assessed by 5-HIAA levels, 5-HIAA:5-HT ratio, or both. In the raphé obscurus, TPH2 levels were 22% lower in the SIDS cases (n = 34) compared with controls (n = 5) (151.2% of standard [95% CI, 137.5%–165.0%] vs 193.9% [95% CI, 158.6%–229.2%], P = .03). 5-HT1A receptor binding was 29% to 55% lower in 3 medullary nuclei that receive 5

  6. Speech intelligibility and childhood verbal apraxia in children with Down syndrome.

    PubMed

    Kumin, Libby

    2006-07-01

    Many children with Down syndrome have difficulty with speech intelligibility. The present study used a parent survey to learn more about a specific factor that affects speech intelligibility, i.e. childhood verbal apraxia. One of the factors that affects speech intelligibility for children with Down syndrome is difficulty with voluntarily programming, combining, organising, and sequencing the movements necessary for speech. Historically, this difficulty, childhood verbal apraxia, has not been identified or treated in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. The survey examined whether and to what extent childhood verbal apraxia is currently being identified and treated in children with Down syndrome. The survey then asked parents to identify certain speech characteristics that occur always, frequently, sometimes or never in their child's everyday speech. There were 1620 surveys received. Survey results indicated that approximately 15% of the parents responding to the survey had been told that their child has childhood verbal apraxia. Examination of the everyday speech characteristics identified by the parents indicated that many more children are showing clinical symptoms of childhood verbal apraxia although they have not been given that diagnosis. The most common characteristics displayed by the subjects included decreased intelligibility with increased length of utterance, inconsistency of speech errors, difficulty sequencing oral movements and sounds, and a pattern of receptive language superior to expressive language. The survey also examined the impact of childhood verbal apraxia on speech intelligibility. Results indicated that children with Down syndrome who have clinical symptoms of childhood verbal apraxia have more difficulty with speech intelligibility, i.e. there was a significant correlation between childhood verbal apraxia and parental

  7. Endocrine sequelae and metabolic syndrome in adult long-term survivors of childhood acute myeloid leukemia.

    PubMed

    Blijdorp, Karin; van Waas, Marjolein; van der Lely, Aart-Jan; Pieters, Rob; van den Heuvel-Eibrink, Marry; Neggers, Sebastian

    2013-04-01

    This study focuses on the effect of chemotherapy on endocrinopathies and the metabolic syndrome in adult survivors of childhood acute myeloid leukemia (AML). Endocrine function and metabolic syndrome were evaluated in 12 AML survivors, treated with chemotherapy, and in 9 survivors of myeloid leukemias treated with stem cell transplantation (SCT), after a median follow-up time of 20 years (range 9-31). In survivors treated with chemotherapy, no endocrinopathies or metabolic syndrome were present, although AMH and Inhibin B levels tended to be lower than in controls. In SCT survivors, pituitary deficiencies and metabolic syndrome were more frequent. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Childhood trauma in Chronic Fatigue Syndrome: focus on personality disorders and psychopathology.

    PubMed

    Sáez-Francàs, Naia; Calvo, Natalia; Alegre, José; Castro-Marrero, Jesús; Ramírez, Nicolás; Hernández-Vara, Jorge; Casas, Miguel

    2015-10-01

    Personality Disorders (PDs) and childhood traumatic experiences have been considered risk factors for Chronic Fatigue Syndrome (CFS). However, the relationship between these factors and their associated psychopathological impact has not been explored in this population. This study was designed to evaluate the association between different childhood traumas and the presence and number of PDs and current psychopathology in a sample of CFS patients. For this purpose, 166 CFS patients were evaluated with the Personality Diagnostic Questionnaire-4+ (PDQ-4+) and the Child Trauma Questionnaire. Other instruments were used to assess the associated psychopathology and the impact of fatigue. Of the total sample, 55 (33.1%) presented childhood trauma, the most frequent of which were emotional neglect (21.7%) and emotional abuse (18.1%). Considering PD presence, 79 (47.6%) patients presented some PD. There were no differences in frequency of physical childhood trauma in patients with and without PD. However, patients with PD had more frequently experienced emotional childhood trauma (OR=2.18, p=0.034). Severity of childhood trauma was related to a higher number of PDs, more severe depressive symptoms (p=0.025) and suicide risk (p=0.001). Patients with PD and any childhood trauma presented more severe depressive and irritable symptoms and a higher suicide risk than those without any PD and non-childhood traumatic event. These patients' psychopathological symptoms were similar to those of patients with childhood trauma and without PD. These results suggest that emotional childhood trauma but not physical childhood trauma is related to higher frequency of PD presence. More severe childhood emotional and physical traumas are related to a higher number of PDs and to more severe psychopathological symptoms. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Cushing’s syndrome in childhood: update on genetics, treatment, and outcomes

    PubMed Central

    Lodish, Maya

    2015-01-01

    Purpose of review To provide an update on the genes associated with Cushing’s syndrome in children, as well as to familiarize the clinician with recent treatment guidelines and outcome data for children with Cushing’s syndrome. Recent findings The list of genes associated with Cushing’s syndrome continues to grow. In addition, treatment for childhood Cushing’s syndrome is evolving. As long-term follow-up data on children becomes available, clinicians need to be aware of the issues that require attention. Summary Knowledge of the specific genetic causes of Cushing’s syndrome has potential implications for treatment, surveillance, and counseling. Advances in surgical technique, radiation modalities, and medical therapies offer the potential for additional treatment options in Cushing’s syndrome. Early identification and management of post-treatment morbidities in children treated for Cushing’s syndrome is crucial in order to optimize care. PMID:25517021

  10. The relationship between childhood parental loss and metabolic syndrome in obese subjects.

    PubMed

    Alciati, Alessandra; Gesuele, Felice; Casazza, Giovanni; Foschi, Diego

    2013-02-01

    The increasing global trend of obesity is a fundamental contributor to the growing prevalence of metabolic syndrome, a cluster of medical abnormalities including impaired glucose and lipid metabolism, obesity and hypertension. Results from animal and human investigations have shown that early life stress can result in weight gain and metabolic changes. Our aim is to investigate whether a particular type of an early adverse event, i.e. parental loss during childhood, is associated with the development of metabolic syndrome in severely obese subjects. One hundred thirty-five consecutive obese patients who were seeking bariatric surgery were assessed for metabolic syndrome according to the Adult Treatment Panel (ATP) III criteria. Information regarding the experience of parental separation or bereavement before the age of 17 was collected with the use of a semi-structured interview. In our population, 31.1% of the subjects met the criteria for metabolic syndrome. No significant differences in demographic factors, health habits or psychiatric diagnosis were found between patients with and without coexisting metabolic syndrome. After adjusting for age and gender, multivariate logistic regression analysis revealed that both childhood loss of a parent and a body mass index (BMI) value greater than 50 were significant predictors of metabolic syndrome. This study provides preliminary evidence linking childhood parental loss to risk factors for the development of metabolic syndrome.

  11. Alcohol as a risk factor for sudden infant death syndrome (SIDS).

    PubMed

    Phillips, David P; Brewer, Kimberly M; Wadensweiler, Paul

    2011-03-01

    To test whether alcohol is a risk factor for sudden infant death syndrome (SIDS). US epidemiological study using computerized death certificates, linked birth and infant death dataset, and Fatality Analysis Reporting System. All SIDS cases (n = 129,090) and other infant deaths (n = 295,151) from 1973-2006; all persons involved in late-night alcohol-related crashes (n = 135,946) from 1994-2008. Three measures were used: the expected number of deaths on New Year versus the observed number (expected values were determined using a locally weighted scatterplot smoothing polynomial), the average number of weekend deaths versus the average number of weekday deaths, and the SIDS death rate for children of alcohol-consuming versus non-alcohol-consuming mothers. These measures indicate that the largest spikes in alcohol consumption and in SIDS (33%) occur on New Year, alcohol consumption and SIDS increase significantly on weekends, and children of alcohol-consuming mothers are much more likely to die from SIDS than are children of non-alcohol-consuming mothers. Alcohol consumption appears to be a risk factor for sudden infant death syndrome, although it is unclear whether alcohol is an independent risk factor, a risk factor only in conjunction with other known risk factors (like co-sleeping), or a proxy for other risk factors associated with occasions when alcohol consumption increases (like smoking). Our findings suggest that caretakers and authorities should be informed that alcohol impairs parental capacity and might be a risk factor for sudden infant death syndrome; in addition, future research should further explore possible connections between sudden infant death syndrome and alcohol. © 2010 The Authors, Addiction © 2010 Society for the Study of Addiction.

  12. [Medico-legal investigation of Sudden Infant Death Syndrome (SIDS): differential diagnosis between natural and unnatural death].

    PubMed

    Ventura, F; Portunato, F; Celesti, R

    2010-04-01

    The sudden infant death syndrome (SIDS) is the sudden dead of every infant or small child (usually within the first year of life). It is an unexpected event, according to the anamnesis of the subject, and the necroscopic examination of the event does not allow to demonstrate with success the proper cause of death. The careful forensic medical appraisal of the death scene and the clinician and anamnestic data, together with the anatomoistopatologic findings, are essential elements to make a correct diagnosis and discriminate between natural and violent causes of death, even if with remarkable interpretative difficulties. Only in rare cases (with variable statistical data), in spite of the scrupulous application of the surveying protocol, it is not possible to define the exact cause of the death. In these cases, generally characterized by an unspecific anossic anatomopathologic picture, the accepted diagnosis of death is exactly that of SIDS, reasoning by elimination. The study of the phenomenon must be based on a multidisciplinary approach, in which the legal surgeon's cooperation with other specialists, such as the anatomopathologist and the pediatrician, plays an important role.

  13. Sudden death in childhood cardiomyopathy: results from a long-term national population-based study.

    PubMed

    Bharucha, Tara; Lee, Katherine J; Daubeney, Piers E F; Nugent, Alan W; Turner, Christian; Sholler, Gary F; Robertson, Terry; Justo, Robert; Ramsay, Jim; Carlin, John B; Colan, Steven D; King, Ingrid; Weintraub, Robert G; Davis, Andrew M

    2015-06-02

    Children with cardiomyopathy (CM) are at risk of sudden cardiac death (SCD), but the incidence and risk factors for this outcome are not clear. This study sought to determine the incidence and risk factors for SCD in children with varying CM phenotypes from a long-term population-based study of childhood CM. The NACCS (National Australian Childhood Cardiomyopathy Study) is an ongoing longitudinal cohort study including all children in Australia with primary CM who were diagnosed between January 1, 1987, and December 31, 1996, and were <10 years of age. The cumulative incidence and risk factors for SCD within individual CM phenotypes were explored using survival analysis. Of 289 eligible patients, 16 (5.5%) experienced SCD over a median follow-up of 11.9 years (interquartile range: 1.7 to 15.4). The risk of SCD varied according to CM phenotype (p=0.007). The cumulative incidence of SCD at 15 years was 5% for dilated cardiomyopathy (DCM), 6% for hypertrophic cardiomyopathy (HCM), 12% for restrictive cardiomyopathy, and 23% for left ventricular (LV) noncompaction. Older age at diagnosis, positive family history of CM, and severity of LV dysfunction were related to increased risk of SCD in patients with DCM, and a higher posterior wall thickness Z-score was the sole risk factor identified for patients with HCM. Predictors of SCD include CM phenotype, family history of CM (DCM), severity of systolic dysfunction (DCM), and extent of LV hypertrophy (HCM). Continuing follow-up of this cohort into adulthood is likely to reveal an ongoing risk of SCD. Copyright © 2015 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  14. Childhood Physical Abuse Is Associated with Incident Metabolic Syndrome in Mid-Life Women

    PubMed Central

    Midei, Aimee J.; Matthews, Karen A.; Chang, Yue-Fang; Bromberger, Joyce T.

    2013-01-01

    Objective Previous research has suggested that childhood emotional abuse, physical abuse, and sexual abuse are associated with an increased risk for ischemic heart disease. Our objective was to examine whether childhood abuse predicted incident metabolic syndrome, a precursor to heart disease, in mid-life women. Methods Participants were 342 (114 Black, 228 White) women from the Pittsburgh site of the Study of Women’s Health Across the Nation (SWAN). SWAN included a baseline assessment of premenopausal or early perimenopausal women in midlife (mean age = 45.7), and women were evaluated for presence of the metabolic syndrome over 7 annual follow-up visits. Women were classified as having metabolic syndrome if they met 3 of the following criteria: waist circumference > 88 cm, triglycerides ≥ 150 mg/dl, HDL < 50 mg/dl, SBP ≥ 130 or DBP ≥ 85 mmHg or on blood pressure medication, and fasting glucose ≥ 110 mg/dl or diabetic. The Childhood Trauma Questionnaire is a standardized measure that retrospectively assesses three domains of abuse in childhood and adolescence: emotional, physical, and sexual abuse. Results Approximately 34% of the participants reported a history of abuse. Cox model survival analysis showed that physical abuse was associated with incident metabolic syndrome over the course of seven years (HR = 2.12, p = .02), adjusted for ethnicity, age at baseline, and time-dependent menopausal status. Sexual abuse and emotional abuse were unrelated to the metabolic syndrome. Conclusion This is the first study to show that a history of childhood abuse, specifically physical abuse, is related to the development of metabolic syndrome in mid-life women. PMID:22775234

  15. Childhood physical abuse is associated with incident metabolic syndrome in mid-life women.

    PubMed

    Midei, Aimee J; Matthews, Karen A; Chang, Yue-Fang; Bromberger, Joyce T

    2013-02-01

    Previous research has suggested that childhood emotional abuse, physical abuse, and sexual abuse are associated with an increased risk for ischemic heart disease. Our objective was to examine whether childhood abuse predicted incident metabolic syndrome, a precursor to heart disease, in midlife women. Participants were 342 (114 Black, 228 White) women from the Pittsburgh site of the Study of Women's Health Across the Nation (SWAN). SWAN included a baseline assessment of premenopausal or early perimenopausal women in midlife (mean age = 45.7), and women were evaluated for presence of the metabolic syndrome over 7 annual follow-up visits. Women were classified as having metabolic syndrome if they met 3 of the following criteria: waist circumference >88 cm, triglycerides ≥150 mg/dl, HDL <50 mg/dl, SBP ≥130 or DBP ≥85 mmHg or on blood pressure medication, and fasting glucose ≥110 mg/dl or diabetic. The Childhood Trauma Questionnaire is a standardized measure that retrospectively assesses 3 domains of abuse in childhood and adolescence: emotional, physical, and sexual abuse. Approximately 34% of the participants reported a history of abuse. Cox model survival analysis showed that physical abuse was associated with incident metabolic syndrome over the course of 7 years (HR = 2.12, p = .02), adjusted for ethnicity, age at baseline, and time-dependent menopausal status. Sexual abuse and emotional abuse were unrelated to the metabolic syndrome. This is the first study to show that a history of childhood abuse, specifically physical abuse, is related to the development of metabolic syndrome in midlife women.

  16. Parental death in childhood and self-inflicted injuries in young adults-a national cohort study from Sweden.

    PubMed

    Rostila, Mikael; Berg, Lisa; Arat, Arzu; Vinnerljung, Bo; Hjern, Anders

    2016-10-01

    Previous studies have shown that parental death influences health and mortality in bereaved offspring. To date, few studies have examined whether exposure to parental bereavement in childhood is associated with suicidality later in life. The aim of the present research was to investigate whether parental death during childhood influences self-inflicted injuries/poisoning in young adulthood. A national cohort born during 1973-1982 (N = 871,402) was followed prospectively in the National Patient Discharge Register from age 18 to 31-40 years. Cox regression analyses of proportional hazards, with adjustment for socio-demographic confounders and parental psychosocial covariates, were used to test hypotheses regarding parental loss and hospital admission due to self-inflicted injuries/poisoning. Parental deaths were divided into deaths caused by (1) external causes/substance abuse and (2) natural causes. Persons who had lost a parent to an external cause/substance abuse-related death had the highest risk of being admitted to a hospital for a self-inflicted injury/poisoning; HRs 2.03 (1.67-2.46) for maternal death and 2.03 (1.84-2.25) for paternal death, after adjustment for socio-demographic confounders and risk factors among surviving parents. Risks were also increased for parental death due to natural causes, but at a lower level: 1.19 (1.01-1.39) and 1.28 (1.15-1.43), respectively. Losing a father before school age was associated with a higher risk of hospital admission for a self-inflicted injury/poisoning than was loss at an older age for both genders. Maternal loss before school age was associated with a higher risk only for men, particularly maternal death by natural causes (p < 0.01).

  17. Evidence for Infection and Inflammation in Infant Deaths in a Country with Historically Low Incidences of Sudden Infant Death Syndrome

    PubMed Central

    Törő, Klára; Vörös, Krisztina; Mészner, Zsófia; Váradi-T, Aletta; Tóth, Adrienn; Kovács, Katalin

    2015-01-01

    Total infant mortality in Hungary has been higher than other European countries; however, the reported incidence of sudden infant death syndrome (SIDS) has been lower. The low incidence of SIDS in Hungary has been supported by evidence obtained from the high rate of scene of death investigation and medico-legal autopsy mandatory since the 1950s. In this study, we compared the incidence of explained and unexplained infant deaths in Hungary for three periods: 1979–1989 when the incidence of SIDS was high in western Europe; 1990–1999 when the incidence of infant deaths was falling following introduction of the public health campaigns to reduce the risk factors associated with SIDS; and 2000–2012 to determine if introduction of Haemophilus influenzae type b or pneumococcal vaccines or introduction of an earlier immunization schedule during this period had an effect on SIDS. Explained infant deaths fell consistently during this period; however, SIDS rose during the second period when the incidence of SIDS was falling in other European countries. Evidence for infection and/or inflammation was observed for the majority of SIDS during each period. The results are discussed in relation to campaigns to reduce infant mortality in Hungary and the introduction of new vaccines and an earlier immunization schedule in 2006. PMID:26379661

  18. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

    ERIC Educational Resources Information Center

    Young, Walter C.; And Others

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  19. The Transition between the Phenotypes of Prader-Willi Syndrome during Infancy and Early Childhood

    ERIC Educational Resources Information Center

    Butler, Jill V.; Whittington, Joyce E.; Holland, Anthony J.; McAllister, Catherine J.; Goldstone, Anthony P

    2010-01-01

    Aim: Prader-Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants is associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS is associated with intellectual disability, hyperphagia, as well as growth and sex hormone deficiency. Little is known…

  20. Childhood irritable bowel syndrome characteristics are related to both sex and pubertal development

    USDA-ARS?s Scientific Manuscript database

    To determine the relationship of both pubertal development and sex to childhood irritable bowel syndrome (IBS) clinical characteristics including gastrointestinal symptoms (eg, abdominal pain) and psychological factors. Cross-sectional study with children ages 7-17 years (n'='143) with a pediatric R...

  1. Similar Developmental Trajectories in Autism and Asperger Syndrome: From Early Childhood to Adolescence

    ERIC Educational Resources Information Center

    Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H.

    2009-01-01

    Objective: The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Method: Sixty-four…

  2. Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

    ERIC Educational Resources Information Center

    Young, Walter C.; And Others

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

  3. The Transition between the Phenotypes of Prader-Willi Syndrome during Infancy and Early Childhood

    ERIC Educational Resources Information Center

    Butler, Jill V.; Whittington, Joyce E.; Holland, Anthony J.; McAllister, Catherine J.; Goldstone, Anthony P

    2010-01-01

    Aim: Prader-Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants is associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS is associated with intellectual disability, hyperphagia, as well as growth and sex hormone deficiency. Little is known…

  4. Childhood inattention and hyperactivity symptoms self-reported by adults with Asperger syndrome.

    PubMed

    Tani, Pekka; Lindberg, Nina; Appelberg, Bjorn; Nieminen-von Wendt, Taina; von Wendt, Lennart; Porkka-Heiskanen, Tarja

    2006-01-01

    Increasing public awareness of the adult manifestations of developmental neuropsychiatric disorders, like Asperger syndrome and attention deficit hyperactivity disorder (ADHD), has provoked an increasing number of persons to seek assessment for the first time in adulthood. As these disorders have their origin in childhood, instruments for retrospective evaluation of childhood behavior are needed. In this preliminary study, 20 adults with Asperger syndrome filled in the Wender-Utah Rating Scale for ADHD to describe retrospectively their childhood behavior. Fourteen out of 20 adults with Asperger syndrome self-rated above the cut-off limit for ADHD. The median total score was also higher than that reported in normal populations in previous studies. When compared with 10 controls, patients with Asperger syndrome scored higher in almost all individual items. A high score on the Wender-Utah rating Scale for ADHD in this patient group might be a sign of true comorbidity with ADHD, an indication of overlapping features typical of both disorders, or a result of other psychiatric comorbidity originating already in childhood. Moreover, there are no data about the proper cut-off limit for ADHD in these subjects. Therefore, one should be cautious when applying this scale beyond its original context of comparison between adults with ADHD, unipolar depression and healthy controls.

  5. The Childhood Asperger Syndrome Test (CAST): Test-Retest Reliability in a High Scoring Sample

    ERIC Educational Resources Information Center

    Allison, Carrie; Williams, Jo; Scott, Fiona; Stott, Carol; Bolton, Patrick; Baron-Cohen, Simon; Brayne, Carol

    2007-01-01

    The Childhood Asperger Syndrome Test (CAST) is a 37-item parental self-completion questionnaire designed to screen for high-functioning autism spectrum conditions in epidemiological research. The CAST has previously demonstrated good accuracy for use as a screening test, with high sensitivity in studies with primary school aged children in…

  6. Unique metabolic characteristics of the major syndromes of severe childhood malnutrition

    USDA-ARS?s Scientific Manuscript database

    The major clinical syndromes of severe childhood malnutrition (SCM) are marasmus, kwashiorkor and marasmic-kwashiorkor. Whereas treatment of marasmus is straightforward and the associated mortality is low, kwashiorkor and marasmic-kwashiorkor are difficult to treat and have high morbidity and mortal...

  7. Association between pacifier use and breast-feeding, sudden infant death syndrome, infection and dental malocclusion.

    PubMed

    Callaghan, Ann; Kendall, Garth; Lock, Christine; Mahony, Anne; Payne, Jan; Verrier, Leanda

    2005-07-01

    To critically review all literature related to pacifier use for full-term healthy infants and young children. The specific review questions addressed are: What is the evidence of adverse and/or positive outcomes of pacifier use in infancy and childhood in relation to each of the following subtopics: • breast-feeding; • sudden infant death syndrome; • infection; • dental malocclusion.  Specific criteria were used to determine which studies would be included in the review: (i) the types of participants; (ii) the types of research design; and (iii) the types of outcome measures. To be included a study has to meet all criteria.  The participants included in the review were healthy term infants and healthy children up to the age of 16 years. Studies that focused on preterm infants, and infants and young children with serious illness or congenital malformations were excluded. However, some total population studies did include these children. Types of research design: It became evident early in the review process that very few randomised controlled trials had been conducted. A decision was made to include observational epidemiological designs, specifically prospective cohort studies and, in the case of sudden infant death syndrome research, case-control studies. Purely descriptive and cross-sectional studies were excluded, as were qualitative studies and all other forms of evidence. A number of criteria have been proposed to establish causation in the scientific and medical literature. These key criteria were applied in the review process and are described as follows: (i) consistency and unbiasedness of findings; (ii) strength of association; (iii) temporal sequence; (iv) dose-response relationship; (v) specificity; (vi) coherence with biological background and previous knowledge; (vii) biological plausibility; and (viii) experimental evidence. Studies that did not meet the requirement of appropriate temporal sequencing of events and studies that did not

  8. Causes of Death in Prader-Willi Syndrome: Prader-Willi Syndrome Association (USA) 40-Year Mortality Survey

    PubMed Central

    Butler, Merlin G.; Manzardo, Ann M.; Heinemann, Janalee; Loker, Carolyn; Loker, James

    2016-01-01

    Background Prader-Willi syndrome (PWS) is a rare complex neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans leading to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. Methods PWSA (USA) mortality syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA(USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox Proportional Hazards. Results A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015 with mean age of 29.5 ± 16 years (2mo–67yrs), 70% occurring in adulthood. Respiratory failure was the most common cause accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries compared to females and cardiopulmonary factors. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. Conclusions These findings highlight the heightened vulnerability towards obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS. PMID:27854358

  9. Association between pacifier use and breast-feeding, sudden infant death syndrome, infection and dental malocclusion.

    PubMed

    Callaghan, Ann; Kendall, Garth; Lock, Christine; Mahony, Anne; Payne, Jan; Verrier, Leanda

    2005-01-01

    To critically review all literature related to pacifier use for full-term healthy infants and young children.The specific review questions addressed are:What is the evidence of adverse and/or positive outcomes of pacifier use in infancy and childhood in relation to each of the following subtopics: INCLUSION CRITERIA: Specific criteria were used to determine which studies would be included in the review: (i) the types of participants; (ii) the types of research design; and (iii) the types of outcome measures. To be included a study has to meet all criteria.The participants included in the review were healthy term infants and healthy children up to the age of 16 years. Studies that focused on preterm infants, and infants and young children with serious illness or congenital malformations were excluded. However, some total population studies did include these children.It became evident early in the review process that very few randomised controlled trials had been conducted. A decision was made to include observational epidemiological designs, specifically prospective cohort studies and, in the case of sudden infant death syndrome research, case-control studies. Purely descriptive and cross-sectional studies were excluded, as were qualitative studies and all other forms of evidence.A number of criteria have been proposed to establish causation in the scientific and medical literature. These key criteria were applied in the review process and are described as follows: (i) consistency and unbiasedness of findings; (ii) strength of association; (iii) temporal sequence; (iv) dose-response relationship; (v) specificity; (vi) coherence with biological background and previous knowledge; (vii) biological plausibility; and (viii) experimental evidence.Studies that did not meet the requirement of appropriate temporal sequencing of events and studies that did not present an estimate of the strength of association were not included in the final review.Our specific interest was

  10. Are health inequalities rooted in the past? Income inequalities in metabolic syndrome decomposed by childhood conditions

    PubMed Central

    San Sebastian, Miguel; Ivarsson, Anneli; Weinehall, Lars; Gustafsson, Per E.

    2017-01-01

    Abstract Background: Early life is thought of as a foundation for health inequalities in adulthood. However, research directly examining the contribution of childhood circumstances to the integrated phenomenon of adult social inequalities in health is absent. The present study aimed to examine whether, and to what degree, social conditions during childhood explain income inequalities in metabolic syndrome in mid-adulthood. Methods: The sample (N = 12 481) comprised all 40- and 50-year-old participants in the Västerbotten Intervention Program in Northern Sweden 2008, 2009 and 2010. Measures from health examinations were used to operationalize metabolic syndrome, which was linked to register data including socioeconomic conditions at age 40–50 years, as well as childhood conditions at participant age 10–12 years. Income inequality in metabolic syndrome in middle age was estimated by the concentration index and decomposed by childhood and current socioeconomic conditions using decomposition analysis. Results: Childhood conditions jointed explained 7% (men) to 10% (women) of health inequalities in middle age. Adding mid-adulthood sociodemographic factors showed a dominant contribution of chiefly current income and educational level in both gender. In women, the addition of current factors slightly attenuated the contribution of childhood conditions, but with paternal income and education still contributing. In contrast, the corresponding addition in men removed all explanation attributable to childhood conditions. Conclusions: Despite that the influence of early life conditions to adult health inequalities was considerably smaller than that of concurrent conditions, the study suggests that early interventions against social inequalities potentially could reduce health inequalities in the adult population for decades to come. PMID:27744345

  11. [Newborn sleep positioners and sudden infant death syndrome risk].

    PubMed

    Rossato, Norma Elena

    2013-01-01

    The rate of sudden infant death decreased after the publication of the first guidelines regarding infant sleep position and safe environment in 1992. From 2005 onwards, infant deaths by suffocation, choking or entrapment have increased. Some of them were associated with wedges, positioning devices, and bumper pads. Media and manufacturers should follow safe sleep guidelines in their messaging and advertising, but there is a lack of control over this. We emphasize the important role of health professionals in disseminating the recommendation for a safe infant sleep environment.

  12. Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome.

    PubMed

    Tang, Wozhan; Wenger, Sharon L

    2005-01-01

    Pallister-Killian syndrome is a chromosomal mosaic syndrome with a normal and an isochromosome 12p cell line, the latter rarely seen in peripheral blood. The isochromosome 12p cell line decreases with serial passages of fibroblasts in vitro and with age of patient in vivo. To evaluate cell death as a possible mechanism for loss of the abnormal cell line, amniocytes from a fetus with Pallister-Killian syndrome were identified as normal or aneuploid using a chromosome 12 alpha-satellite DNA probe by fluorescent in situ hybridization (FISH) and then subsequently stained with Annexin V, which stains the cytoplasm of cells that are dying. Although not conclusive, our preliminary results suggest that the abnormal cell line is going through apoptosis or necrosis at a higher rate than normal cells. Cell death may be a possible mechanism for decrease of the aneuploid cell line in patients with Pallister-Killian syndrome.

  13. Infant dreaming and fetal memory: a possible explanation of sudden infant death syndrome.

    PubMed

    Christos, G A

    1995-04-01

    During rapid-eye-movement sleep, when we dream, the brain is thought to be processing stored memory. The memory of a newborn infant is dominated by its fetal experience, and the infant is likely to dream about its life in the womb. Research with lucid (or conscious) dreaming has shown that dream images are supported by the corresponding body actions, using those muscles which remain active during rapid-eye-movement sleep. We suggest that sudden infant death syndrome or cot death may be a result of an infant dreaming about its life (or memory) as a fetus. In the course of that dream, since a fetus does not breathe (in the usual sense) the infant may cease to breathe and may die. This simple hypothesis is consistent with all of the known facts about sudden infant death syndrome (pathological and epidemiological), such as the age at death curve (the observed exponential decay and possibly the peak at 2-3 months), the higher risk with the prone sleeping position (but not excluding the supine position), and the observed climatic variation (seasonal and regional) in the incidence of sudden infant death syndrome. Many of these well-established facts have no other known explanation and other theories can generally only account for a few of the known facts about sudden infant death syndrome. Our hypothesis is also supported by recent findings that, as a group, sudden infant death syndrome infants have a higher proportion of rapid-eye-movement sleep, and also that they have an average higher heart rate (corresponding to possible fetal dreams) but only during rapid-eye-movement sleep.(ABSTRACT TRUNCATED AT 250 WORDS)

  14. Risk Factors, Protective Factors, and Current Recommendations to Reduce Sudden Infant Death Syndrome: A Review.

    PubMed

    Carlin, Rebecca F; Moon, Rachel Y

    2017-02-01

    Sudden infant death syndrome remains the leading cause of death in infants aged 1 month to 1 year in the United States. While its exact cause is unknown, sudden infant death syndrome is believed to be multifactorial, ie, occurs in infants with underlying biological vulnerability who experience an exogenous stressor, such as prone/side sleeping or soft bedding, during a critical developmental period. Much genetic and physiologic evidence points to impaired arousal responses to hypercarbia and hypoxia, which ultimately leads to asphyxia. Known risk factors for infants include prone and side sleeping, soft bedding, bed sharing, inappropriate sleep surfaces (including sofas), exposure to tobacco smoke, and prematurity; protective factors include breastfeeding, pacifier use, room sharing, and immunizations. Despite our improved understanding of the physiologic mechanisms that cause sudden infant death, the mainstay of risk reduction continues to be a safe sleep environment, as most infants who die suddenly and unexpectedly do so in unsafe sleep environments.

  15. Seasonality, but not prevalence of sudden infant death syndrome varies by region in mainland Britain.

    PubMed

    Douglas, A S; Helms, P J; Jolliffe, I T

    1999-01-01

    This study aimed to investigate whether seasonal variation in day length contributed to winter/summer variation in sudden infant death syndrome (SIDS) at different latitudes in mainland Britain. Over 11 yrs 13,973 deaths were studied. Using appropriate analytic techniques a sine curve was fitted to monthly rates with the amplitude indicating magnitude of seasonal change. The rate of SIDS per 1,000 live births was the same (1.73) in the north as in the south. The amplitude was a quarter less in the north (41.3%) than in the south (54.2%) (p<0.001). While annual rates did not differ, the within year distribution did. The findings for seasonality of SIDS births were similar (amplitudes: north 213%, south 32.3%). Correlations were made between SIDS amplitude and individual environmental factors, particularly temperature and day length. These complex issues, while reported briefly, do not allow firm conclusions. In the north the winter day length is shorter, sunshine hours are less and temperature is lower, but the winter increment in SIDS is less. The extent of seasonal variation of sudden infant death syndrome is greater in the south as compared with the colder, darker north but this has no effect on sudden infant death syndrome rates. Changing photoperiod by latitude, amongst other environmental influences, may hold clues to the aetiology of sudden infant death syndrome.

  16. [Investigation of the sudden infant death syndrome: a multidisciplinary approach is required].

    PubMed

    Limelette, Anne; Boulagnon, Camille; Terrade, Caroline; N'guyen, Yohan; Guillard, Thomas; Andréoletti, Laurent; Garnotel, Roselyne; Digeon, Béatrice; De Champs, Christophe; Fornes, Paul; Lévêque, Nicolas

    2013-01-01

    The concept of sudden infant death syndrome (SIDS) is defined as the sudden, unexpected death of an infant less than a year old which remains unexplained after in-depth investigations comprising a complete autopsy, biological analyses, and a clinical examination of the circumstances surrounding the death. This definition underlines the importance of finding the cause of this disease in order to improve preventative measures to reduce the number of deaths due to sudden infant death syndrome. Among the causes of SIDS, pediatric infectious diseases may be neglected and must be systematically sought after. We report upon a SIDS death case of a four and a half month-old that occurred during his sleep. Following the absence of an evident cause of death a scientific autopsy was performed. The histological examination of pulmonary tissue revealed broncolitic lesions associated with numerous micro-abscesses. The post mortem microbiological analyses revealed evidence of an infection by the respiratory syncytial virus complicated by a bacterial infection due to Haemophilus influenzae. The case underlines the necessity of a multidisciplinary approach to researching SIDS, involving both clinicians and biologists, in order to determine the causes of these deaths.

  17. Socio-demographic, environmental and caring risk factors for childhood drowning deaths in Bangladesh.

    PubMed

    Hossain, Mosharaf; Mani, Kulanthayan K C; Sidik, Sherina Mohd; Hayati, K S; Rahman, A K M Fazlur

    2015-09-10

    Drowning contributes to incapacity and early death in many countries. In low- and middle-income countries, children are the most susceptible to fatalities. Over 50 % of the global drowning deaths occur among children aged under 15 years old with children aged between 1 and 4 years of age being most at risk. In Bangladesh, drowning rates are 10 to 20 times more than those in other developing countries. The object of this study is to determine the socio-demographic, environmental and caring hazard issues for child drowning in Bangladesh. A case-control study was conducted, with data collected from the Bangladesh Health and Injury Survey (BHIS) to identify the social-demographic and environmental factors associated with childhood drowning. The participants represented 171,366 households from seven divisions of Bangladesh-Dhaka, Rajshahi, Chittagong, Barisal, Sylhet, Khulna and Rangpur. The survey was conducted between January and December of 2003. A total of 141 children drowning were identified in the year preceding the survey. Data were analysed using descriptive statistics and logistic regression analysis. The odds ratios with 95% CI intervals were estimated for various associated factors for child drowning deaths. In Bangladesh, in 2003, the incidence of drowning deaths was 104.8 per 100,000 among those aged less than 5 years; 168.7 per 100,000 in rural areas; male 32.4 per 100,000; 112.7 per 100,000 between 10:00 a.m. and 2:00 p.m.; and cannot swim 134.9 per 100,000. The socio-demographic danger factors for child drowning deaths were: being male (OR = 1.45, 95% CI = 1.34-1.78), aged less than 5 years (OR = 2.89, 95% CI = 1.89-3.11), urban areas (OR = 0.67, 95% CI = 0.67-1.87), and mother being illiterate (OR = 1.69, 95% CI = 1.01-2.81). Significant environmental and caring factors included mother/caregiver not being the accompanying person (OR = 25.4, 95% CI = 14.4-45.3) and children cannot swim (OR = 4.5, 95% CI = 1.25-19.4). Drowning is the single largest

  18. Rett's syndrome: progression of symptoms from infancy to childhood.

    PubMed

    Suzuki, H; Matsuzaka, T; Hirayama, Y; Sakuragawa, N; Arima, M; Tateno, A; Tojo, M; Suzuki, Y

    1986-04-01

    The results of studies of seven girls with Rett's syndrome and two additional cases suggestive of Rett's syndrome are presented. After normal neurological development up to the age of 7 to 20 months, there was a rapid regression of higher cortical function. Rett's syndrome was initially manifested by a delay of further motor development and the appearance of autistic traits. As the disease progressed, there was a loss of ability to crawl, loss of purposeful hand movements, abnormal respirations, truncal ataxia, seizures, and spastic increase in muscle tone. Blood chemistries, including ammonia levels, were normal. Metabolic interference, a recently hypothesized form of inheritance, may occur in this syndrome.

  19. Childhood trauma, parental death, and their co-occurrence in relation to current suicidality risk in adults: a nationwide community sample of Korea.

    PubMed

    Jeon, Hong Jin; Lee, Christina; Fava, Maurizio; Mischoulon, David; Shim, Eun-Jung; Heo, Jung-Yoon; Choi, Hong; Park, Jae-Hyun

    2014-12-01

    Although previous studies have suggested that childhood trauma and parental death are strongly associated with suicidality in adulthood, it is still unclear how these factors interact within the same population. A total of 1396 adults were recruited through nationwide multistage probability sampling in South Korea. Subjects were evaluated through face-to-face interviews using the Suicidality Module of the Mini-International Neuropsychiatric Interview and the Early Trauma Inventory Self Report-Short Form. Among the 1396 adults, the group that experienced both childhood trauma and parental death had the highest current suicidality risks (F = 12.16, p < 0.0001) and lifetime suicide attempt (χ2 = 35.81, p < 0.0001) compared with the other groups, which were only childhood trauma, only parental death, and neither. Multivariate logistic regression analyses revealed that middle-to-high current suicidality risk and lifetime suicide attempt were significantly associated with concurrent childhood trauma and parental death (odds ratio, 3.64; 95% confidence interval, 1.99-6.65) as well as with only childhood trauma (odds ratio, 1.95; 95% confidence interval, 1.33-2.87), after adjusting for age, sex, education, marital status, household monthly income, and living area. Emotional abuse was the only type of childhood trauma significantly associated with higher current suicidality scores in those who experienced childhood parental death than in those who did not (F = 3.26, p = 0.041). Current suicidality risk and lifetime suicide attempt are associated with experiencing both parental death and trauma, especially emotional abuse, in childhood, whereas experiencing only childhood parental death is associated with neither.

  20. Bed sharing is more common in sudden infant death syndrome than in explained sudden unexpected deaths in infancy.

    PubMed

    Möllborg, Per; Wennergren, Göran; Almqvist, Petra; Alm, Bernt

    2015-08-01

    Despite its declining incidence, sudden infant death syndrome (SIDS) is still an important cause of death in infancy. This study investigated the environmental circumstances associated with SIDS, by analysing data from all sudden unexpected deaths in infancy (SUDI) in Sweden from 2005 to 2011. All Swedish infants forensically autopsied up to the age of 365 days from 2005 to 2011 were included. Medical records were obtained from the hospitals and supplementary data from the Swedish Medical Birth Register. Of the 261 infants, 136 were defined as SIDS and 125 as explained SUDI. The documentation in the medical records was poor when it came to issues such as bed sharing, sleep position, smoking, breastfeeding and pacifier use. The main findings were a significantly higher prevalence of bed sharing in SIDS than in explained deaths (odds ratio 7.77, 95% confidence interval 2.36-25.57) and that prone sleeping was still overrepresented. Bronchopneumonia, other infections and congenital anomalies were the most common causes of explained SUDI. Bed sharing and prone sleeping were more common in SIDS than in explained SUDI. Sparse data in medical records were a problem, and the authors are now working with the National Board of Health and Welfare on a project to establish new routines. ©2015 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.

  1. Adults with Asperger Syndrome: A Childhood Disorder Grows Up

    ERIC Educational Resources Information Center

    Wilkinson, Lee A.

    2007-01-01

    Asperger syndrome is a chronic developmental disorder characterized by problems in social relatedness, empathic communication and understanding, and circumscribed interests. The inclusion of Asperger's Disorder (Asperger syndrome) in the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-IV; American Psychiatric Association, 1994), has…

  2. Sudden infant death syndrome and early family interpersonal relationships.

    PubMed

    Lindsay, J S

    1999-04-01

    The medical profession are concerned with diseases or disorders, their diagnoses, and the appropriate treatment of their patients. The relevant processes involve interpersonal relationships in physical examinations, associated with the conventional social ritual courtesies. There are only two certainties--birth and death--with areas of probabilities and uncertainties in between. One such uncertainty is the sudden death of an infant in its first year. After the obstetrical birth processes, the specific health of the neonate involves the paediatrician. His skill and modern technical resources have enabled numbers of the prematurely born to survive. Has the modern neonate evolved over the centuries to have some needs that must be worked out between mother and her baby? To attribute hands-on experiences to genes takes away four holding hands from what they feel, the eyeball movements and what they see, the noses and what they smell, and the breast milk for the energy to move the muscles no longer in floating weightlessness.

  3. Differential effects of childhood trauma subtypes on fatigue and physical functioning in chronic fatigue syndrome.

    PubMed

    De Venter, Maud; Illegems, Jela; Van Royen, Rita; Moorkens, Greta; Sabbe, Bernard G C; Van Den Eede, Filip

    2017-10-01

    There is wide consensus that childhood trauma plays an important role in the aetiology of chronic fatigue syndrome (CFS). The current study examines the differential effects of childhood trauma subtypes on fatigue and physical functioning in individuals suffering from CFS. Participants were 155 well-documented adult, predominantly female CFS patients receiving treatment at the outpatient treatment centre for CFS of the Antwerp University Hospital in Belgium. Stepwise regression analyses were conducted with outcomes of the total score of the Checklist Individual Strength (CIS) measuring fatigue and the scores on the physical functioning subscale of the Medical Outcomes Short Form 36 Health Status Survey (SF-36) as the dependent variables, and the scores on the five subscales of the Traumatic Experiences Checklist (TEC) as the independent variables. The patients' fatigue (β=1.38; p=0.025) and physical functioning scores (β=-1.79; p=0.034) were significantly predicted by childhood sexual harassment. There were no significant effects of emotional neglect, emotional abuse, bodily threat, or sexual abuse during childhood. Of the childhood trauma subtypes investigated, sexual harassment emerged as the most important predictor of fatigue and poor physical functioning in the CFS patients assessed. These findings have to be taken into account in further clinical research and in the assessment and treatment of individuals coping with chronic fatigue syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Atmospheric pressure and sudden infant death syndrome in Cook County, Chicago.

    PubMed

    Campbell, M J; Julious, S A; Peterson, C K; Tobias, A

    2001-07-01

    We investigated daily deaths from sudden infant death syndrome (SIDS) in Cook County, Chicago, from 1 January 1986 to 31 December 1990. The daily SIDS rate was 0.54 deaths/day. Mean daily atmospheric pressure ranged from 952 to 1007 mb. We found a weak link with barometric pressure, whereby an increase of 10 mb was associated with an increased risk of 12% [95% CI 0.1%, 24%]. Cross-tabulation revealed that the highest SIDS rates were associated with a drop from high to low pressure. Possible reasons for this are discussed.

  5. Ignored Disease or Diagnostic Dustbin? Sudden Infant Death Syndrome in the British Context

    PubMed Central

    Ferguson, Angus H.

    2015-01-01

    Sudden Infant Death Syndrome (SIDS) was defined in 1969 and incorporated into the International Classification of Diseases a decade later. To advocates of SIDS as a diagnosis, medical interest in sudden infant death was long overdue. However, the definition of SIDS lacked positive diagnostic criteria, provoking some to view it as a ‘diagnostic dustbin’ for the disposal of problematic cases where cause of death was unclear. This paper examines the development of medical interest in sudden infant death in Britain during the middle decades of the twentieth century. It highlights the importance of recognising the historicity of SIDS as a diagnosis facilitated by changes in law and medicine over the course of the nineteenth and twentieth centuries. It suggests that SIDS provides a definitive case study of the medicalisation of life and death, and a unique example of an officially recognised disease that had no symptoms, signs, pathology or patients. PMID:26217070

  6. Gastrointestinal and liver lesions in primary childhood Sjögren syndrome.

    PubMed

    Kashiwagi, Yasuyo; Hatsushika, Tatsuro; Tsutsumi, Norito; Go, Soken; Nishimata, Shigeo; Kawashima, Hisashi

    2017-06-01

    Sjögren syndrome (SS) is characterized by lymphocytic infiltration of exocrine glands, mainly the lacrimal and salivary glands, leading to keratoconjunctivitis sicca and xerostomia. SS is one of the most common autoimmune rheumatic diseases in adults; however, few cases of primary childhood SS with gastrointestinal and liver lesions have been reported in the literature. We report five cases of primary childhood SS with gastrointestinal and liver lesions. Multiple gastric biopsies in four cases revealed atrophic gastritis in the antrum of the stomach or chronic gastritis. Liver biopsies in two cases revealed nonalcoholic steatohepatitis. Careful clinical approach and follow-up for gastrointestinal and liver lesions are required.

  7. Assessment of Autonomic Dysfunction in Childhood Guillain-Barré Syndrome

    PubMed Central

    Samadi, Mahmood; Kazemi, Babak; Golzari Oskoui, Sona; Barzegar, Mohammad

    2013-01-01

    Introduction: Autonomic dysfunction (AD) is a common and important complication in Guillain-Barré syndrome (GBS) and may be the cause of significant morbidity or death. Limited studies have evaluated this complication in childhood GBS. Our objectives were to show the prevalence of AD in children with GBS and investigate its association with the severity of the disease. Methods: Study included 28 children admitted with a diagnosis of GBS. Heart rate variability (HRV), motor function disability of the upper limbs and GBS disability scores were measured at admission and the results were compared with 20 healthy age/gender matched subjects (2-13 years; 43% male). GBS subtypes were defined by electromyography: acute inflammatory demyelinating polyneuropathy (AIDP) or acute motor axonal neuropathy (AMAN). Results: The mean age was 5.5±3.4 years (range 1.5-14 years; 50% male). AIDP and AMAN subtypes comprised 57.1% and 42.9% of cases, respectively. In the upper limbs, 85.7% and in the GBS disability grading, 50% of patients had ≤ 3 scores, implying less severe motor dysfunction. There was no difference in the mean heart rate between patients vs. controls (103.9 vs. 98.2 bpm; P= 0.16), but half of patients showed AD and HRV was significantly reduced in patients compared to controls. Of the 16 patients with AIDP, 11 (68.8%) showed reduced HRV compared to 3 (25%) out of 12 AMAN cases (P= 0.02). There was no significant relation between HRV and motor disability scores. Conclusion: AD was present in half of children with mild GBS and it showed no significant association with disease severity. PMID:24252981

  8. First Report of Sexual Reproduction by the Soybean Sudden Death Syndrome Pathogen Fusarium tucumaniae in Nature

    USDA-ARS?s Scientific Manuscript database

    Of the four fusaria that have been shown to cause soybean sudden death syndrome (SDS), field surveys indicate that Fusarium tucumaniae is the most important and genetically diverse SDS pathogen in Argentina. Although none of the SDS fusaria have been shown to produce perithecia in nature, a heteroth...

  9. Greenhouse Inoculation Methods for Evaluating Resistance of Soybean to Sudden Death Syndrome

    USDA-ARS?s Scientific Manuscript database

    Sudden death syndrome (SDS) caused by the soil borne fungus Fusarium solani f. sp. glycines (FSG) (syn. Fusarium virguliforme Akoi, O’Donnell, Homma and Lattanzi), is a major disease in soybean [Glycine max (L.) Merr.]. Selection for SDS resistance in the field is difficult because of the impact of ...

  10. SIDS Family Adjustment Scale: A Method of Assessing Family Adjustment to Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    May, Harold J.; Breme, Frederick J.

    1982-01-01

    Discusses Sudden Infant Death Syndrome (SIDS) and the family's resultant grief process. Explores SIDS as a family crisis, and by identifying the psychological factors or tasks pertinent to family adjustment, proposes a SIDS Family Adjustment Scale which assists in recognizing adaptive and maladaptive grief responses. (Author)

  11. Statistical and Modeling Techniques for Studying the Sudden Infant Death Syndrome

    ERIC Educational Resources Information Center

    Lindsey, Helen L.

    1976-01-01

    The intention of this research is to contribute additional data, hopefully bearing on the solution to some of the problems and indirectly, the cause(s) of Sudden Infant Death Syndrome, and to present ideas for consideration for future SIDS research. (Author/RK)

  12. Infant Temperament Characteristics Related to Sudden Infant Death Syndrome and Its Risk Factors

    ERIC Educational Resources Information Center

    Kelmanson, Igor A.

    2006-01-01

    Three major components have been repeatedly implicated for the origin(s) of sudden infant death syndrome (SIDS): system, minor sickness and surroundings. All these factors also frame infant temperament, and therefore it seems logical to suppose that the babies who either succumb to or are at risk of SIDS may present with certain behavioral…

  13. Risk Factors of Sudden Infant Death Syndrome and Risk Factors for Sleep Disturbances

    ERIC Educational Resources Information Center

    Kelmanson, Igor A.

    2011-01-01

    Relationship between major risk factors of sudden infant death syndrome (SIDS) and sleep disorders in the infants is the subject of review and discussion. Improper micro-environmental characteristics (especially poor environmental organisation and lack of developmental stimulation), pre-term delivery and/or infant low birth weight, prone sleep…

  14. Risk Factors of Sudden Infant Death Syndrome and Risk Factors for Sleep Disturbances

    ERIC Educational Resources Information Center

    Kelmanson, Igor A.

    2011-01-01

    Relationship between major risk factors of sudden infant death syndrome (SIDS) and sleep disorders in the infants is the subject of review and discussion. Improper micro-environmental characteristics (especially poor environmental organisation and lack of developmental stimulation), pre-term delivery and/or infant low birth weight, prone sleep…

  15. A method for determining the severity of Sudden Death Syndrome in soybeans

    USDA-ARS?s Scientific Manuscript database

    Sudden death syndrome (SDS), caused by the fungus Fusarium virguliforme, is a widespread mid- to late- season soybean disease with distinctive foliar symptoms that in some extreme cases may cause nearly 100% yield loss. This article reports on the development of an image analysis method to quantify ...

  16. Infant Temperament Characteristics Related to Sudden Infant Death Syndrome and Its Risk Factors

    ERIC Educational Resources Information Center

    Kelmanson, Igor A.

    2006-01-01

    Three major components have been repeatedly implicated for the origin(s) of sudden infant death syndrome (SIDS): system, minor sickness and surroundings. All these factors also frame infant temperament, and therefore it seems logical to suppose that the babies who either succumb to or are at risk of SIDS may present with certain behavioral…

  17. Genome-wide association mapping of quantitative resistance to sudden death syndrome in soybean

    USDA-ARS?s Scientific Manuscript database

    Sudden death syndrome (SDS) is a serious threat to soybean production that can be controlled by host plant resistance. To dissect the genetic architecture of quantitative resistance to the disease in soybean, two independent association panels of soybean elite cultivar, consisting of 392 and 300 uni...

  18. Components of the metabolic syndrome in 500 adult long-term survivors of childhood cancer.

    PubMed

    van Waas, M; Neggers, S J C M M; Pieters, R; van den Heuvel-Eibrink, M M

    2010-05-01

    Adult survivors of childhood cancer have been reported to have an increased risk of late sequels. A cluster of abnormalities that contribute to the metabolic syndrome may be expressed at a higher level and therefore result in an increased risk for diabetes mellitus and cardiovascular diseases. We investigated a single-centre cohort of 500 adult survivors (228 females) of childhood cancer, median age 28 years (range 18-59 years) and median follow-up time 19 years (range 6-49 years). We measured total cholesterol, high-density lipoprotein-cholesterol, systolic and diastolic blood pressure, body mass index and the prevalence of diabetes mellitus. Data from the epidemiological Monitoring van Risicofactoren en Gezondheid in Nederland (MORGEN) study were used to calculate standard deviation scores as normative values. The criteria of the metabolic syndrome were met in 13% of the total cohort. Acute lymphoblastic leukaemia (ALL) survivors treated with cranial irradiation had an increased risk of developing the metabolic syndrome compared with ALL survivors not treated with cranial irradiation (23% versus 7%, P = 0.011), probably determined by higher prevalence of overweight and hypertension. Adult survivors of childhood cancer, especially those treated with cranial irradiation, are at increased risk of developing the metabolic syndrome.

  19. Increased plasma levels of CK-18 as potential cell death biomarker in patients with HELLP syndrome.

    PubMed

    John, K; Wielgosz, S; Schulze-Osthoff, K; Bantel, H; Hass, R

    2013-10-24

    HELLP (hemolysis, elevated liver enzymes, low platelets) syndrome represents a life-threatening pregnancy disorder with high fetal and maternal mortality, but its underlying molecular mechanisms remain unknown. Although apoptosis has been implicated in HELLP syndrome, its pathogenic role remains largely unclear. In the present study, we investigated whether the detection of apoptosis by novel plasma biomarkers is of diagnostic value in HELLP patients. For this purpose, we analyzed two biomarkers that specifically detect apoptosis or overall cell death of epithelial cells, such as hepatocytes or placental trophoblasts, through the release of caspase-cleaved or total (caspase-cleaved and uncleaved) cytokeratin-18 (CK-18) in plasma of HELLP patients compared with pregnant as well as non-pregnant healthy women. In addition, caspase activation and cell death were determined in placental tissues of HELLP patients and individuals with normal pregnancy. In contrast to pregnant or non-pregnant healthy controls, we observed significantly increased levels of both caspase-cleaved and total CK-18 in plasma of HELLP patients. Following delivery, CK-18 levels rapidly decreased in HELLP patients. Caspase activation and cell death were also elevated in placental tissues from HELLP patients compared with healthy pregnant women. These data demonstrate not only that apoptosis is increased in HELLP syndrome, but also that caspase-cleaved or total CK-18 are promising plasma biomarkers to identify patients with HELLP syndrome. Thus, further studies are warranted to evaluate the utility of these biomarkers for monitoring disease activity in HELLP syndrome.

  20. Davidoff-Dyke-Masson Syndrome Presenting as Childhood Schizophrenia.

    ERIC Educational Resources Information Center

    White, James H.; Rust, John B.

    1979-01-01

    The article presents a case history of a child displaying symptoms of schizophrenia, seizures, and retardation without neurological abnormalities, which were eventually diagnosed as being due to Davidoff-Dyke-Masson syndrome, a condition involving gross anatomical brain pathology. (DLS)

  1. Childhood Problem Behaviors and Death by Midlife: The British National Child Development Study

    ERIC Educational Resources Information Center

    Jokela, Markus; Ferrie, Jane; Kivimaki, Mika

    2009-01-01

    The childhood behavior problem as assessed by teachers of over 11,000 boys and girls who were born in 1958 and were part of the British National Child Development Study is reviewed to determine a link between these behaviors and mortality by the age of 46. It is found that childhood behavior problem is linked to long-term mortality beyond…

  2. Contribution of developmental disabilities to childhood mortality in the United States: a multiple-cause-of-death analysis.

    PubMed

    Boyle, C A; Decouflé, P; Holmgreen, P

    1994-10-01

    Although developmental disabilities are among the major chronic health problems affecting children in the United States, the contribution of developmental disabilities to childhood mortality is unknown. To investigate the magnitude of this contribution, multiple cause-of-death data were examined for US children, aged 1-19 years, for 1980 and 1983-1989. The following conditions were included as developmental disabilities: autism, attention deficit disorder, learning disorders, mental retardation, cerebral palsy, epilepsy, muscular dystrophy, blindness and deafness. Based on underlying cause only, it was found that developmental disabilities were the fifth leading cause of nontraumatic death for children between 1 and 14 years of age and the third leading cause of non-traumatic death for children between 15 and 19 years. When a multiple cause approach was used to define developmental disability-related deaths (i.e. when contributing as well as underlying cause was considered), the number of such deaths nearly doubled. On the basis of both underlying- and multiple-cause analyses, cerebral palsy was the developmental disability most frequently cited as a cause of death. Mental retardation ranked second according to the multiple-cause approach but only fourth according to the underlying-cause approach. The least frequent causes of death (autism, attention deficit disorder, learning disorders, blindness, and deafness) were the ones most likely to be coded as contributing rather than underlying causes. Developmental disability-related mortality rates were highest among children aged 1-4 and 15-19 years, highest among blacks and lowest among racial groups other than blacks and whites, and higher among males than females. Although results of multiple-cause-of-death analyses more accurately reflect the proportion of deaths related to developmental disabilities, even this approach may underestimate the degree to which mortality is associated with a developmental disability.

  3. Irritable bowel syndrome in childhood: visceral hypersensitivity and psychosocial aspects.

    PubMed

    Iovino, P; Tremolaterra, F; Boccia, G; Miele, E; Ruju, F M; Staiano, A

    2009-09-01

    Visceral hypersensitivity is often considered to play a major etiologic role in the pathophysiology of irritable bowel syndrome in adults, and some authors argue that this increased sensitivity is mainly due to psychological factors. In contrast, there are no data in children with irritable bowel syndrome which confirm this relationship. The aim of the study was to evaluate the relationship between psychosocial aspects and sensorymotor function in children affected by irritable bowel syndrome. Ten children fulfilling the Rome II criteria for irritable bowel syndrome and seven healthy controls were enrolled. We studied the thresholds and the perception of visceral stimuli in the rectum by means of an electronic barostat (isobaric phasic distentions, 3 mmHg/1 min, interval 1 min) and a validated questionnaire. Personality features were evaluated by means of the Big Five Questionnaire for Children. Sleep, mood disturbance, anxiety and individual performance (missed school days, school results and social activities) were also evaluated. Children with irritable bowel syndrome showed significantly lower thresholds for discomfort (14.8 +/- 3.5 vs 22.3 +/- 6.9 mmHg, P = 0.010) and a higher cumulative perception score (28.2 +/- 11.1 vs 12.3 +/- 8.0, P = 0.005) compared with healthy controls. A higher emotional instability (57.8 +/- 7.0 vs 48.7 +/- 10.1, P = 0.047), sleep disturbance (7.2 +/- 1.0 vs 9.3 +/- 0.5, P = 0.004) and anxiety (6.3 +/- 2.0 vs 2.3 +/- 1.7, P = 0.009) were observed in irritable bowel syndrome patients. Moreover, in a multivariate analysis, the cumulative perception score was significantly related to emotional instability (P = 0.042). In conclusion children with irritable bowel syndrome exhibit visceral hypersensitivity and psychosocial impairment. Emotional instability, as a personality feature in these children, seems to modulate the perception response to visceral stimulations.

  4. [Radiofrequency catheter ablation in children with Wolff-Parkinson-White syndrome and sudden cardiac death who had been resuscitated].

    PubMed

    Benito Bartolomé, F; Sánchez Fernández-Bernal, C

    2001-04-01

    Sudden death may be the first manifestation of the Wolff-Parkinson-White syndrome, especially in children and adolescents. The aim of this study was to evaluate the usefulness of radiofrequency catheter ablation in children with Wolff-Parkinson-White syndrome with aborted sudden death. We report four patients with Wolff-Parkinson-White syndrome who survived cardiac arrest. The patients were aged from 2.5 months to 16 years. The two first patients were lactating infants; in the first sudden death occurred during digoxin treatment for supraventricular tachycardia secondary to Wolff-Parkinson-White syndrome and in the second the syndrome was diagnosed after an episode of sudden death. In these patients a free wall accessory pathway (left posterior and left lateral, respectively) was successfully ablated using a transseptal approach. The third patient was diagnosed with asymptomatic Wolff-Parkinson-White syndrome; sudden death occurred during exercise. In the fourth patient, sudden death occurred after intravenous therapy with adenosine triphosphate and amiodarone for rapid atrial fibrillation. In both patients, one accessory pathway, located in right posteroseptal and right anterior free wall, respectively, was ablated. After a mean follow-up of 43.5 26.4 months, no recurrence of sudden death had occurred and electrocardiogram showed sinus rhythm without delta wave. The third patient presented severe sequelae of hypoxemic encephalopathy, which persisted during the follow-up. Radiofrequency catheter ablation is the treatment of choice in Wolff-Parkinson-White syndrome with episodes of aborted sudden death.

  5. Pathogenesis of sudden death following water immersion (immersion syndrome)

    NASA Technical Reports Server (NTRS)

    Buhring, M.; Spies, H. F.

    1981-01-01

    Sympathetic activity under cold stress is investigated. Predominantly vagal cardio-depressive reflexes are discussed besides currently known mechanisms of sudden death after water immersion. Pronounced circulatory centralization in diving animals as well as following exposure in cold water indicates additional sympathetic activity. In cold water baths of 15 C, measurements indicate an increase in plasma catecholamine levels by more than 300 percent. This may lead to cardiac arrhythmias by the following mechanisms: cold water essentially induces sinus bradycardia; brady-and tachycardiarrhythmias may supervene as secondary complications; sinusbradycardia may be enhanced by sympathetic hypertonus. Furthermore, ectopic dysrhythmias are liable to be induced by the strictly sympathetic innervation of the ventricle. Myocardial ischemia following a rise in peripheral blood pressure constitutes another arrhythmogenic factor. Some of these reactions are enhanced by alcohol intoxication.

  6. Weather and the risk of sudden infant death syndrome: the effect of wind

    PubMed Central

    Macey, P; Schluter, P; Ford, R

    2000-01-01

    STUDY OBJECTIVE—To examine and identify relations between sudden infant death syndrome (SIDS) and wind, particularly the föhn wind, in Christchurch, New Zealand.
DESIGN—A retrospective epidemiological study combining details of regional hourly meteorological variables and reported SIDS cases.
SETTING—Christchurch, New Zealand, between 1968 and 1997 inclusively.
PARTICIPANTS—All 646 infants reported as dying from SIDS within the greater Christchurch region.
MAIN RESULTS—Analysis of 1968-1989 data revealed nine wind variables significantly related to SIDS. When compared with corresponding variables calculated over the 1990-1997 period, only the northerly wind on the day of death and the southerly wind three days before a SIDS death had estimated associations with similar effect size and sign. However, both these variables had confidence intervals that included unity.
CONCLUSIONS—No evidence was found to suspect that föhn winds influenced SIDS occurrence. The relations identified between SIDS incidence and wind, after controlling for the effects of temperature and trend, were tenuous and relatively small. More data are necessary to substantiate whether northerly winds on the day of death or southerly winds occurring three days before a death are truly associated with SIDS. It seems that wind has little, if any effect on SIDS incidence in Christchurch.


Keywords: sudden infant death syndrome; weather; föhn wind PMID:10814652

  7. [Multi-organ failure as first clinical sign of macrophage activation syndrome in childhood Still's disease].

    PubMed

    López-Sánchez, M; Rubio-López, I; Obeso-González, T; Teja-Barbero, J L; Santidrián-Miguel, J P; Peiro-Callizo, E

    2010-10-01

    Macrophage activation syndrome is a form of secondary haemophagocytic lymphohistiocytosis seen in the context of rheumatic diseases. It is seen most frequently in association with systemic onset juvenile arthritis or childhood Still's disease. Hemophagocytosis is part of a sepsis-like clinical syndrome caused by hypercytokinemia due to a highly stimulated but ineffective immune response. Coagulopathy and hemorrhages, decreased white cell count, elevated levels of aspartate aminotransferase, fever, rash, hepatosplenomegaly and central nervous system dysfunction are some of diagnostic criteria of macrophage activation syndrome, but it is very difficult to diagnose due to the lack of specific clinical signs. We report a 8-year-old child who was admitted to the ICU with lethargy, fever, acute respiratory failure, coagulopathy, metabolic acidosis and multiorgan failure. Septic shock was suspected, but he was diagnosed with macrophage activation syndrome and treated with corticosteroids and intravenous immunoglobulin and later discharged from the ICU.

  8. Sudden infant death syndrome caused by cardiac arrhythmias: only a matter of genes encoding ion channels?

    PubMed

    Sarquella-Brugada, Georgia; Campuzano, Oscar; Cesar, Sergi; Iglesias, Anna; Fernandez, Anna; Brugada, Josep; Brugada, Ramon

    2016-03-01

    Sudden infant death syndrome is the unexpected demise of a child younger than 1 year of age which remains unexplained after a complete autopsy investigation. Usually, it occurs during sleep, in males, and during the first 12 weeks of life. The pathophysiological mechanism underlying the death is unknown, and the lethal episode is considered multifactorial. However, in cases without a conclusive post-mortem diagnosis, suspicious of cardiac arrhythmias may also be considered as a cause of death, especially in families suffering from any cardiac disease associated with sudden cardiac death. Here, we review current understanding of sudden infant death, focusing on genetic causes leading to lethal cardiac arrhythmias, considering both genes encoding ion channels as well as structural proteins due to recent association of channelopathies and desmosomal genes. We support a comprehensive analysis of all genes associated with sudden cardiac death in families suffering of infant death. It allows the identification of the most plausible cause of death but also of family members at risk, providing cardiologists with essential data to adopt therapeutic preventive measures in families affected with this lethal entity.

  9. Childhood Sjögren syndrome presenting as acute brainstem encephalitis.

    PubMed

    Matsui, Yoriko; Takenouchi, Toshiki; Narabayashi, Atsushi; Ohara, Kentaro; Nakahara, Tadaki; Takahashi, Takao

    2016-01-01

    Sjögren syndrome is an autoimmune disease characterized by dry mouth and eyes, known as sicca symptoms. The exact spectrum of neurological involvement, especially of the central nervous system, in childhood Sjögren syndrome has not been well defined. We report a girl who presented with acute febrile brainstem encephalitis. In retrospect, she had exhibited a preceding history of recurrent conjunctivitis and strong halitosis that could be considered as sicca symptoms. The histopathology results of a minor salivary biopsy, the presence of anti-SSA/Ro antibody, and keratoconjunctivitis confirmed the diagnosis of Sjögren syndrome. Commonly observed features in previously reported patients with childhood Sjögren syndrome and central nervous system complications have included fever at the time of neurologic presentation, cerebrospinal fluid pleocytosis, abnormal neuroimaging, and positivity for several specific antibodies. In children presenting with unknown acute febrile encephalopathy, Sjögren syndrome should be included in the differential diagnosis, especially when sicca symptoms are present. Copyright © 2015 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  10. The metabolic syndrome in survivors of childhood acute lymphoblastic leukemia in Isfahan, Iran

    PubMed Central

    Reisi, Nahid; Azhir, Afshin; Hashemipour, Mahin; Raeissi, Pouran; Amini, Abasgholi; Moafi, Alireza

    2009-01-01

    BACKGROUND: To determine the prevalence of metabolic syndrome in survivors of childhood leukemia in Isfahan, Iran. METHODS: During a 4-year period (2003 to 2007), 55 children (33 male and 22 female) diagnosed with ALL at Unit of Hematology/ Oncology, Department of Pediatrics, Isfahan University of Medical Science, were enrolled in this cross-sectional study. Metabolic syndrome was defined using the modified version of Adult Treatment Panel (ATP III) crite-ria. Insulin resistance was defined based on the homeostasis model assessment index (HOMA-IR). RESULTS: The mean age of participates was 10.4 years (range 6-19 years) and the mean interval since completion of chemotherapy was 35 months. Twenty percent (11/55) of survivors (10 male, 1 female) met criteria for diagnosis of metabolic syndrome. Obesity was observed in one forth of patients and nearly 3/4 of obese patients had metabolic syndrome. High serum insulin levels were found in 16% of participants and in 63% of obese survivors. The mean insulin levels in survivors with metabolic syndrome was three-times more than those without (28.3 mu/l vs. 9.57 mu/l, p = 0.004). Insulin resistance was detected in 72.7% of survivors with metabolic syndrome and it was positively correlated with serum triglycerides (0.543, p ≤ 0.001), systolic and diastolic BP (0.348, p = 0.01 and 0.368, p = 006 respectively), insulin levels (0.914, p < 0.001) and blood sugar (0.398, p = 003). CONCLUSIONS: The prevalence of metabolic syndrome in survivors of childhood leukemia in Iran is higher than developed countries. Nearly all of the obese patients had metabolic syndrome. Weight control and regular physical exercise are recommended to the survivors. PMID:21772869

  11. The dangerous link between childhood and adulthood predictors of obesity and metabolic syndrome.

    PubMed

    Faienza, Maria Felicia; Wang, David Q H; Frühbeck, Gema; Garruti, Gabriella; Portincasa, Piero

    2016-03-01

    The purpose of this review is to evaluate whether some risk factors in childhood work as significant predictors of the development of obesity and the metabolic syndrome in adulthood. These factors include exposures to risk factors in the prenatal period, infancy and early childhood, as well as other socio-demographic variables. We searched articles of interest in PubMed using the following terms: 'predictors AND obesity OR Metabolic syndrome AND (children OR adolescents) AND (dyslipidemia OR type 2 diabetes OR atherosclerosis OR hypertension OR hypercholesterolemia OR cardiovascular disease)' AND genetic OR epigenetic. Maternal age, smoking and weight gain during pregnancy, parental body mass index, birth weight, childhood growth patterns (early rapid growth and early adiposity rebound), childhood obesity and the parents' employment have a role in early life. Furthermore, urbanization, unhealthy diets, increasingly sedentary lifestyles and genetic/epigenetic variants play a role in the persistence of obesity in adulthood. Health promotion programs/agencies should consider these factors as reasonable targets to reduce the risk of adult obesity. Moreover, it should be a clinical priority to correctly identify obese children who are already affected by metabolic comorbidities.

  12. Fetal Alcohol Syndrome in Sudden Unexpected Death in Infancy: A Case Report in Medicolegal Autopsy.

    PubMed

    Tangsermkijsakul, Aphinan

    2016-03-01

    Fetal alcohol spectrum disorder is a range of birth defects associated with prenatal alcohol exposure. Fetal alcohol syndrome (FAS) is the most serious form of fetal alcohol spectrum disorder. Infants with FAS are prone to death because of various physical abnormalities. Consequently, infants with FAS may be presented in the medicolegal investigation as a form of sudden unexpected death in infancy. The author reported a 6-month-old male infant who was found dead at home. The history of maternal ethanol consumption during pregnancy was obtained. The infant was diagnosed with FAS at the autopsy because he was presented with postnatal growth retardation, multiple facial abnormalities, and abnormal brain structures, which met the criteria of FAS. The cause of death was severe aspiration pneumonia. The purposes of this case report are to show an uncommon manifestation of sudden unexpected death in infancy case for the forensic pathologists and to emphasize on the national healthcare problem.

  13. Case-control study of sudden infant death syndrome in Scotland, 1992-5.

    PubMed Central

    Brooke, H.; Gibson, A.; Tappin, D.; Brown, H.

    1997-01-01

    OBJECTIVE: To investigate the relation between routine infant care practices and the sudden infant death syndrome in Scotland. METHODS: National study of 201 infants dying of the sudden infant death syndrome (cases) and 276 controls by means of home interviews comparing methods of infant care and socioeconomic factors. RESULTS: Sleeping prone (odds ratio 6.96 (95% confidence interval 1.51 to 31.97) and drug treatment in the previous week (odds ratio 2.33 (1.10 to 4.94)) were more common in the cases than controls on multivariate analysis. Smoking was confirmed as a significant risk factor (odds ratio for mother and father both smoking 5.19 (2.26 to 11.91)). The risk increased with the number of parents smoking (P < 0.0001), with the number of cigarettes smoked by mother or father (P = 0.0001), and with bed sharing (P < 0.005). A new finding was an increased risk of dying of the syndrome for infants who slept at night on a mattress previously used by another infant or adult (odds ratio 2.51 (1.39 to 4.52)). However, this increased risk was not established for mattresses totally covered by polyvinyl chloride. CONCLUSIONS: Sleeping prone and parental smoking are confirmed as modifiable risk factors for the sudden infant death syndrome. Sleeping on an old mattress may be important but needs confirmation before recommendations can be made. PMID:9169398

  14. Rufinamide in refractory childhood epileptic encephalopathies other than Lennox-Gastaut syndrome.

    PubMed

    Coppola, G; Grosso, S; Franzoni, E; Veggiotti, P; Zamponi, N; Parisi, P; Spalice, A; Habetswallner, F; Fels, A; Verrotti, A; D'Aniello, A; Mangano, S; Balestri, A; Curatolo, P; Pascotto, A

    2011-02-01

    To report on the first multicenter Italian experience with rufinamide as adjunctive drug in children, adolescents and young adults with refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Thirty-eight patients (19 males, 19 females), aged between 4 and 34 (mean 13.7 ± 8.3, median 12.5), all affected by different types of childhood-onset refractory epileptic encephalopathies other than Lennox-Gastaut syndrome, were treated with rufinamide as adjunctive drug for a mean period of 11.4 months (range 3-26 months). Fifteen of 38 patients (39.5%) had a ≥ 50% seizure reduction in countable seizures. Complete seizure freedom was achieved in one of these patients (2.6%). Three patients (7.9%) had a 25-49% seizure reduction, whilst seizure frequency remained unchanged in 15 (39.5%) and increased in five patients (13.1%). Eleven patients (28.9%) reported adverse side effects. Vomiting was reported in five patients (13.1%); drowsiness, decreased appetite and irritability with migraine manifested in other four patients. They were transient and mild in all cases. Rufinamide may be an effective and well-tolerated adjunctive drug for the treatment of refractory childhood-onset epileptic encephalopathies other than Lennox-Gastaut syndrome. Rufinamide was most effective in patients with drop-attacks and (bi)frontal spike-wave discharges. © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.

  15. Underlying molecular and cellular mechanisms in childhood irritable bowel syndrome

    USDA-ARS?s Scientific Manuscript database

    Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosocial model play a role. These factors include visceral hyperalgesia, intestinal permeability...

  16. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    ERIC Educational Resources Information Center

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  17. Behaviour Problems and Adults with Down Syndrome: Childhood Risk Factors

    ERIC Educational Resources Information Center

    McCarthy, J.

    2008-01-01

    Background: Studies of people with intellectual disability suggest that several individual characteristics and environmental factors are associated with behaviour disorder. To date there are few studies looking at risk factors within specific syndromes and the relationship between early risk markers and later behaviour disorder. The key aim of the…

  18. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    ERIC Educational Resources Information Center

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  19. The Relations between Enuresis in Childhood and Nocturnal Polyuria Syndrome in Adult Life

    PubMed Central

    Savas, Murat; Altunkol, Adem; Öncel, Halil; Yeni, Ercan; Verit, Ayhan

    2012-01-01

    Purpose The aim of this study, to investigate whether there is any association between enuresis in childhood and nocturnal polyuria syndrome (NPS) in adult life. Methods The study consisted of thirty five patients with nocturnal polyuria, and thirty five healthy people without nocturnal polyuria in adult life, were asked to assess their enuresis in childhood. Results There was a history of enuresis in childhood in 18 (51.42%) of 35 of men with nocturnal polyuria and in 4 (11.42%) of 35 without nocturnal polyuria. Enuresis in childhood was significantly more common in men with nocturnal polyuria than without nocturnal polyuria. The difference was significant (P<0.0001). The prevalence of enuresis in the nocturnal polyuria (51.42%) was more than two-fold higher than reported prevalence in general populations. Conclusions The results of this study suggest that the history of enuresis in childhood seems to increase the risk of having NPS in adult life. This relationship should be taken into account in the evaluation of men with complaints from NPS in adult life and the possible common pathophysiology should be considered in the treatment planning. PMID:22500252

  20. Treatment factors rather than genetic variation determine metabolic syndrome in childhood cancer survivors.

    PubMed

    van Waas, Marjolein; Neggers, Sebastian J C M M; Uitterlinden, André G; Blijdorp, Karin; van der Geest, Ivana M M; Pieters, Rob; van den Heuvel-Eibrink, Marry M

    2013-02-01

    Genetic variation that regulates insulin resistance, blood pressure and adiposity in the normal population might determine differential vulnerability for metabolic syndrome after treatment for childhood cancer. To evaluate the contribution of candidate single nucleotide polymorphisms (SNPs) relevant for metabolic syndrome in our single centre cohort of adult long-term childhood cancer survivors. In this retrospective study 532 survivors were analysed. Median age at diagnosis was 5.7 years (range 0.0-17.8 years), median follow-up time was 17.9 years (range 5.0-48.8) and median age at follow-up was 25.6 years (range 18.0-50.8). JAZF1 gene rs864745, THADA gene rs7578597, IRS1 gene rs2943641, TFAP2B gene rs987237, MSRA gene rs7826222, ATP2B1 gene rs2681472 and rs2681492 were genotyped. The association of genotypes with total cholesterol levels, blood pressure, body mass index, waist circumference and frequency of diabetes were assessed. Metabolic syndrome was more frequent in cranially (23.3%, P=0.002) and abdominally (23.4%, P=0.009) irradiated survivors as compared with non-irradiated survivors (10.0%). Association of allelic variants in rs2681472 and rs2681492 with hypertension, rs987237 and rs7826222 with waist circumference and rs864745, rs7578597 and rs2943641 with diabetes were not significant. None of the SNPs was associated with the metabolic syndrome. Adjusting for age, sex, follow-up time, cranial irradiation and abdominal irradiation did not change these results. Treatment factors and not genetic variation determine hypertension, waist circumference, diabetes and metabolic syndrome in adult long-term survivors of childhood cancer. Copyright © 2012 Elsevier Ltd. All rights reserved.

  1. The CAST (Childhood Asperger Syndrome Test): Preliminary Development of a UK Screen for Mainstream Primary-School-Age Children.

    ERIC Educational Resources Information Center

    Scott, Fiona J.; Baron-Cohen, Simon; Bolton, Patrick; Brayne, Carol

    2002-01-01

    This article describes a pilot and follow-up study of the development of a screening test for Asperger Syndrome (AS) and relates social and communication conditions in children aged 4-11. Results suggest that the Childhood Asperger Syndrome Test may be useful for identifying children at risk for AS and related conditions, in a mainstream…

  2. Childhood Predictors of Written Expression in Late Adolescents with 22q11.2 Deletion Syndrome: A Longitudinal Study

    ERIC Educational Resources Information Center

    Hamsho, N.; Antshel, K. M.; Eckert, T. L.; Kates, W. R.

    2017-01-01

    Background: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that…

  3. The CAST (Childhood Asperger Syndrome Test): Preliminary Development of a UK Screen for Mainstream Primary-School-Age Children.

    ERIC Educational Resources Information Center

    Scott, Fiona J.; Baron-Cohen, Simon; Bolton, Patrick; Brayne, Carol

    2002-01-01

    This article describes a pilot and follow-up study of the development of a screening test for Asperger Syndrome (AS) and relates social and communication conditions in children aged 4-11. Results suggest that the Childhood Asperger Syndrome Test may be useful for identifying children at risk for AS and related conditions, in a mainstream…

  4. Prenatal alcohol exposure and miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome.

    PubMed

    Bailey, Beth A; Sokol, Robert J

    2011-01-01

    In addition to fetal alcohol syndrome and fetal alcohol spectrum disorders, prenatal alcohol exposure is associated with many other adverse pregnancy and birth outcomes. Research suggests that alcohol use during pregnancy may increase the risk of miscarriage, stillbirth, preterm delivery, and sudden infant death syndrome. This research has some inherent difficulties, such as the collection of accurate information about alcohol consumption during pregnancy and controlling for comorbid exposures and conditions. Consequently, attributing poor birth outcomes to prenatal alcohol exposure is a complicated and ongoing task, requiring continued attention to validated methodology and to identifying specific biological mechanisms.

  5. Month of birth as an independent variable in the sudden infant death syndrome.

    PubMed

    Douglas, A S; Gupta, R; Helms, P J; Jolliffe, I T

    1997-01-01

    Well-known epidemiological features of sudden infant death syndrome (SIDS) are age at death and the increased numbers in winter. There are more SIDS deaths in late autumn/early winter and there is a seasonal rhythm of births with a peak in late summer and early autumn. The data set was 14033 SIDS deaths from Scotland, England and Wales over the 11 years 1982-92. Using log-linear models, which accounted for age at death and month of death, birth month was found to be a statistically significant risk factor for SIDS independent of age at death and winter environment (P < 0.001). Although winter season had the largest effect (relative risk 2.7 in January compared with August), the independent effect of birth month was of clinical as well as statistical significance with a relative risk for August births of 1.37 compared with those born in April. The analysis of each birth month cohort revealed a change in age distribution with infants born in early winter (December) dying at a younger age (mean 108 days) than those born in midsummer (June) (mean 146 days). Although winter season and age are the most influential factors, the substantial effect of month of birth requires explanation and points to as yet unidentified environmental influences during pregnancy.

  6. Childhood intelligence in relation to major causes of death in 68 year follow-up: prospective population study.

    PubMed

    Calvin, Catherine M; Batty, G David; Der, Geoff; Brett, Caroline E; Taylor, Adele; Pattie, Alison; Čukić, Iva; Deary, Ian J

    2017-06-28

    Objectives To examine the association between intelligence measured in childhood and leading causes of death in men and women over the life course.Design Prospective cohort study based on a whole population of participants born in Scotland in 1936 and linked to mortality data across 68 years of follow-up.Setting Scotland.Participants 33 536 men and 32 229 women who were participants in the Scottish Mental Survey of 1947 (SMS1947) and who could be linked to cause of death data up to December 2015.Main outcome measures Cause specific mortality, including from coronary heart disease, stroke, specific cancer types, respiratory disease, digestive disease, external causes, and dementia.Results Childhood intelligence was inversely associated with all major causes of death. The age and sex adjusted hazard ratios (and 95% confidence intervals) per 1 SD (about 15 points) advantage in intelligence test score were strongest for respiratory disease (0.72, 0.70 to 0.74), coronary heart disease (0.75, 0.73 to 0.77), and stroke (0.76, 0.73 to 0.79). Other notable associations (all P<0.001) were observed for deaths from injury (0.81, 0.75 to 0.86), smoking related cancers (0.82, 0.80 to 0.84), digestive disease (0.82, 0.79 to 0.86), and dementia (0.84, 0.78 to 0.90). Weak associations were apparent for suicide (0.87, 0.74 to 1.02) and deaths from cancer not related to smoking (0.96, 0.93 to 1.00), and their confidence intervals included unity. There was a suggestion that childhood intelligence was somewhat more strongly related to coronary heart disease, smoking related cancers, respiratory disease, and dementia in women than men (P value for interactions <0.001, 0.02, <0.001, and 0.02, respectively).Childhood intelligence was related to selected cancer presentations, including lung (0.75, 0.72 to 0.77), stomach (0.77, 0.69 to 0.85), bladder (0.81, 0.71 to 0.91), oesophageal (0.85, 0.78 to 0.94), liver (0.85, 0.74 to 0.97), colorectal (0.89, 0.83 to 0.95), and

  7. Childhood intelligence in relation to major causes of death in 68 year follow-up: prospective population study

    PubMed Central

    Batty, G David; Der, Geoff; Brett, Caroline E; Taylor, Adele; Pattie, Alison; Čukić, Iva

    2017-01-01

    Objectives To examine the association between intelligence measured in childhood and leading causes of death in men and women over the life course. Design Prospective cohort study based on a whole population of participants born in Scotland in 1936 and linked to mortality data across 68 years of follow-up. Setting Scotland. Participants 33 536 men and 32 229 women who were participants in the Scottish Mental Survey of 1947 (SMS1947) and who could be linked to cause of death data up to December 2015. Main outcome measures Cause specific mortality, including from coronary heart disease, stroke, specific cancer types, respiratory disease, digestive disease, external causes, and dementia. Results Childhood intelligence was inversely associated with all major causes of death. The age and sex adjusted hazard ratios (and 95% confidence intervals) per 1 SD (about 15 points) advantage in intelligence test score were strongest for respiratory disease (0.72, 0.70 to 0.74), coronary heart disease (0.75, 0.73 to 0.77), and stroke (0.76, 0.73 to 0.79). Other notable associations (all P<0.001) were observed for deaths from injury (0.81, 0.75 to 0.86), smoking related cancers (0.82, 0.80 to 0.84), digestive disease (0.82, 0.79 to 0.86), and dementia (0.84, 0.78 to 0.90). Weak associations were apparent for suicide (0.87, 0.74 to 1.02) and deaths from cancer not related to smoking (0.96, 0.93 to 1.00), and their confidence intervals included unity. There was a suggestion that childhood intelligence was somewhat more strongly related to coronary heart disease, smoking related cancers, respiratory disease, and dementia in women than men (P value for interactions <0.001, 0.02, <0.001, and 0.02, respectively).Childhood intelligence was related to selected cancer presentations, including lung (0.75, 0.72 to 0.77), stomach (0.77, 0.69 to 0.85), bladder (0.81, 0.71 to 0.91), oesophageal (0.85, 0.78 to 0.94), liver (0.85, 0.74 to 0.97), colorectal (0.89, 0.83 to 0.95), and

  8. Physiological Effects of Obstructive Sleep Apnea Syndrome in Childhood

    PubMed Central

    Muzumdar, Hiren; Arens, Raanan

    2013-01-01

    Sleep disordered breathing in children refers to a group of respiratory disorders that occur or are exacerbated during sleep. Obstructive sleep apnea syndrome (OSAS) is one of the most significant disorders in this group. OSAS can present in all age groups from early infancy to adolescent years. The cardinal feature of OSAS is limitation of inspiratory flow and volume during sleep resulting in abnormal gas exchange and/or alteration of sleep patterns. When OSAS is a chronic condition it often results in adverse physiological effects that impact on health and development. The present review discusses genesis of OSAS in children and consequent end organ injury with special emphasis on behavior and cognition, cardiovascular function, autonomic regulation, inflammation, endothelial function and metabolic syndrome. PMID:23707879

  9. The association between adverse childhood experiences and adolescent pregnancy, long-term psychosocial consequences, and fetal death.

    PubMed

    Hillis, Susan D; Anda, Robert F; Dube, Shanta R; Felitti, Vincent J; Marchbanks, Polly A; Marks, James S

    2004-02-01

    Few reports address the impact of cumulative exposure to childhood abuse and family dysfunction on teen pregnancy and consequences commonly attributed to teen pregnancy. Therefore, we examined whether adolescent pregnancy increased as types of adverse childhood experiences (ACE score) increased and whether ACEs or adolescent pregnancy was the principal source of elevated risk for long-term psychosocial consequences and fetal death. A retrospective cohort study of 9159 women aged > or = 18 years (mean 56 years) who attended a primary care clinic in San Diego, California in 1995-1997. Adolescent pregnancy, psychosocial consequences, and fetal death, compared by ACE score (emotional, physical, or sexual abuse; exposure to domestic violence, substance abusing, mentally ill, or criminal household member; or separated/divorced parent). Sixty-six percent (n = 6015) of women reported > or = 1 ACE. Teen pregnancy occurred in 16%, 21%, 26%, 29%, 32%, 40%, 43%, and 53% of those with 0, 1, 2, 3, 4, 5, 6, and 7 to 8 ACEs. As the ACE score rose from zero to 1 to 2, 3 to 4, and > or = 5, odds ratios for each adult consequence increased (family problems: 1.0, 1.5, 2.2, 3.3; financial problems: 1.0, 1.6, 2.3, 2.4; job problems: 1.0, 1.4, 2.3, 2.9; high stress: 1.0, 1.4, 1.9, 2.2; and uncontrollable anger: 1.0, 1.6, 2.8, 4.5, respectively). Adolescent pregnancy was not associated with any of these adult outcomes in the absence of childhood adversity (ACEs: 0). The ACE score was associated with increased fetal death after first pregnancy (odds ratios for 0, 1-2, 3-4, and 5-8 ACEs: 1.0, 1.2, 1.4, and 1.8, respectively); teen pregnancy was not related to fetal death. The relationship between ACEs and adolescent pregnancy is strong and graded. Moreover, the negative psychosocial sequelae and fetal deaths commonly attributed to adolescent pregnancy seem to result from underlying ACEs rather than adolescent pregnancy per se.

  10. Asbestos bodies in children's lungs. An association with sudden infant death syndrome and bronchopulmonary dysplasia

    SciTech Connect

    Haque, A.K.; Kanz, M.F.

    1988-05-01

    Lungs from 46 autopsied children (age range, 1 to 27 months) were examined for asbestos bodies using a bleach-digestion extraction technique. Ten (21.7%) of 46 children had asbestos bodies in their lungs. Of these ten children, seven were diagnosed with sudden infant death syndrome, and three were diagnosed with bronchopulmonary dysplasia. Thus, 46.6% of children with sudden infant death syndrome and 42.8% of children with bronchopulmonary dysplasia had asbestos bodies. Impaired lung-clearing mechanisms due to either abnormal lung physiology or reorganization of pulmonary architecture may be significant in the formation of asbestos bodies. Additionally, children with asbestos bodies may have been exposed to higher ambient levels of asbestos and other pollutants.

  11. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    ERIC Educational Resources Information Center

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  12. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    ERIC Educational Resources Information Center

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  13. Episodic Syndromes that may be associated with migraine: a.k.a. “the childhood periodic syndromes”

    PubMed Central

    Gelfand, Amy A.

    2015-01-01

    Previously called “childhood periodic syndromes that are commonly precursors of migraine” in ICHD-II, these disorders were renamed “episodic syndromes that may be associated with migraine” in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine and cyclical vomiting syndrome, as well as infantile colic which was recently added under the appendix section in ICHD-III beta. PMID:26234380

  14. Early and treatment-related deaths in childhood acute myeloid leukaemia in the Nordic countries: 1984-2003.

    PubMed

    Molgaard-Hansen, Lene; Möttönen, Merja; Glosli, Heidi; Jónmundsson, Guðmundur K; Abrahamsson, Jonas; Hasle, Henrik

    2010-12-01

    Despite major improvements in the cure rate of childhood acute myeloid leukaemia (AML), 5-15% of patients still die from treatment-related complications. In a historical prospective cohort study, we analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment-related deaths (TRD) in 525 children included in the Nordic Society of Paediatric Haematology and Oncology (NOPHO)-AML-84, -88 and -93 trials. Seventy patients (13%) died before starting treatment or from treatment-related complications. The death rate rose from 11% in NOPHO-AML-84 to 29% in -88, but then fell to 8% in -93. Sixteen patients (3%) died within the first 2 weeks, mainly from bleeding or leucostasis. Hyperleucocytosis, age <2 or ≥10 years were risk factors. After day 15, 10% of patients died from treatment-related complications with infection as the main cause of death. Risk factors were age <2 or ≥10 years and treatment according to the NOPHO-AML-88 protocol. The number of EDs and TRDs in AML is high. Therefore optimal antifungal prophylaxis is essential, and studies on the benefit of antibacterial prophylaxis and individual risk factors for ED and TRD are needed. © 2010 Blackwell Publishing Ltd.

  15. Factors affecting spontaneous resolution of hematuria in childhood nutcracker syndrome.

    PubMed

    Shin, Jae Il; Park, Jee Min; Lee, Soon Min; Shin, Youn Ho; Kim, Ji Hong; Lee, Jae Seung; Kim, Myung Joon

    2005-05-01

    To identify factors affecting spontaneous resolution of hematuria in children with nutcracker syndrome, 20 patients diagnosed as having nutcracker syndrome using renal Doppler ultrasound (US) were analyzed retrospectively. Sixteen patients had microscopic hematuria, and four had gross hematuria at presentation. The mean age was 10.6 years (range 2.5-14 years). All underwent a follow-up Doppler US examination after a mean period of 1.4 years (range 0.5-3.5 years) after the first US was performed, and height and weight were measured at the time of US. At the time of follow-up US, hematuria disappeared in 15 patients and improved in 3. The peak velocity (PV) ratios of the left renal vein (LRV) at the follow-up US decreased significantly when compared to the first US examination (7.74+/-2.64 vs 3.50+/-1.09, p<0.0001), and height (147.4+/-20.1 vs 152.3+/-18.8 cm) and weight (36.1+/-10.9 vs 42.3+/-12.7 kg) increased (p<0.0001). Changes in the PV ratios of the LRV correlated positively with changes in the PV at the aortomesenteric portion (r=0.569, p=0.009). Changes in the PV at the aortomesenteric portion correlated negatively with changes in body mass index (BMI) (r=-0.543, p=0.013). Although spontaneous resolution of hematuria in children with nutcracker syndrome is obscure, our findings suggest the increase in BMI may be a possible hemodynamic factor.

  16. Sudden death in type 1 diabetes: the mystery of the 'dead in bed' syndrome.

    PubMed

    Tu, Emily; Twigg, Stephen M; Semsarian, Christopher

    2010-01-07

    Sudden cardiac death is an unpredictable and devastating event, particularly in the young. A significant proportion of sudden deaths in the young are unexplained-no cause is identified either during life or at post-mortem. This is seen in a subgroup of young patients with type 1 diabetes who have dead in bed syndrome, where these victims are in good health, retire to bed, only to be found dead the following morning in a bed which is undisturbed, suggesting no terminal struggle or seizure. The underlying cause of dead in bed syndrome remains unknown, but is likely to be due to a terminal malignant arrhythmia. A plausible hypothesis is that it may be secondary to QT interval prolongation (followed by a degenerate ventricular tachycardia), caused by a number of factors including acute hypoglycaemia, on a background of cardiac autonomic neuropathy, and possible genetic influences. It is envisaged that understanding the causes and triggers of dead in bed syndrome will allow appropriate therapeutic interventions to be initiated in high-risk patients with type 1 diabetes, with the ultimate goal to prevent sudden death.

  17. Autoimmune polyglandular syndrome type 2: a rare condition in childhood.

    PubMed

    Kırmızıbekmez, Heves; Yeşiltepe Mutlu, Rahime Gül; Demirkıran Urgancı, Nafiye; Öner, Ayşe

    2015-03-01

    Autoimmune polyglandular syndrome type 2 is defined as the occurrence of Addison's disease concomitantly with autoimmune thyroid disease and/or type 1 diabetes mellitus. An 11-year-old boy with Hashimoto's disease, Addison's disease, celiac disease and Langerhans islet cell autoimmunity is described in this case report. Treatment of an endocrine disease may also trigger the onset of another endocrine disease. This case report underlines the importance of early recognition and treatment of critical endocrine diseases as well as the necessity to investigate pediatric patients with autoimmune diseases for coexisting conditions. Furthermore, the role of psychological stress as an inducer of autoimmunity was also discussed.

  18. Next generation sequencing for molecular confirmation of hereditary sudden cardiac death syndromes.

    PubMed

    Márquez, Manlio F; Cruz-Robles, David; Ines-Real, Selene; Vargas-Alarcón, Gilberto; Cárdenas, Manuel

    2015-01-01

    Hereditary sudden cardiac death syndromes comprise a wide range of diseases resulting from alteration in cardiac ion channels. Genes involved in these syndromes represent diverse mutations that cause the altered encoding of the diverse proteins constituting these channels, thus affecting directly the currents of the corresponding ions. In the present article we will briefly review how to arrive to a clinical diagnosis and we will present the results of molecular genetic studies made in Mexican subjects attending the SCD Syndromes Clinic of the National Institute of Cardiology of Mexico City. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  19. Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?

    PubMed

    Guideri, F; Acampa, M; Hayek, Y; Zappella, M

    2005-01-01

    There is a higher incidence of sudden death in patients with Rett syndrome than individuals in the general population. Previous studies have implicated cardiac dysautonomia and a long QT interval as causative factors. Because carnitine plays a critical role in cellular metabolism and may have beneficial effects on cardiac and nerve function, we investigated the effects of long-term treatment with acetyl-L-carnitine on heart rate variability and electrocardiographic abnormalities in 10 girls with Rett syndrome and compared the results with 12 control patients (girls with Rett syndrome who were not treated). The age range of the subjects was 2-21 years. The study design called for the evaluation of heart rate variability, corrected QT interval, and QTc dispersion. In the 10 Rett girls treated with acetyl-L-carnitine, a significant increase in heart rate variability was observed. To explain these results, we hypothesize that acetyl-L-carnitine has a neurotrophic action on the cardiac autonomic nervous system. This effect may reduce the risk of sudden death in patients with this syndrome.

  20. Childhood symptoms and events in women with interstitial cystitis/painful bladder syndrome.

    PubMed

    Peters, Kenneth M; Killinger, Kim A; Ibrahim, Ibrahim A

    2009-02-01

    To explore the prevalence of recurrent urinary tract infection and elimination difficulties experienced in childhood and adolescence in adult women with interstitial cystitis/painful bladder syndrome (IC/PBS) and community controls. The relationship between dysfunctional voiding and bowel symptoms in early life and the development of IC/PBS is not clear. A questionnaire was developed and mailed to 406 women with IC/PBS (patients) and 5000 community-dwelling controls. The demographic, personal, and family health history data and the urinary and bowel symptoms experienced in childhood, adolescence, and adulthood were collected. The data were analyzed using the Student t test and multiple logistic regression analysis. A total of 215 patients (53%) and 823 controls (16%) returned the questionnaires (controls with a previous IC/PBS diagnosis or not meeting the inclusion criteria for either group were excluded from analysis). The 215 patients, 126 controls reporting IC/PBS symptoms but no diagnosis, and 464 asymptomatic controls were compared regarding symptoms and events experienced in childhood and adolescence. Statistically significant differences were seen among the groups for recurrent urinary tract infection (P < .0001) and frequent antibiotic use (P < .0001) in childhood and for all symptoms in childhood and adolescence, including trouble starting the urinary stream (P < .0001 for both), urgency (P < .0001 for both), retention (P = .0038 and P < .0001, respectively), constipation (P = .0006 and P = .0001, respectively), and painful defecation (P < .0001 for both). Multiple logistic regression analyses showed statistically significant differences between the patients and asymptomatic controls in childhood bladder infections (P = .006) and urinary urgency (P = .001) in adolescence. These results support the need for longitudinal prospective assessment of children with dysfunctional elimination symptoms to determine whether these symptoms progress to IC

  1. Splenic hypofunction in the nephrotic syndrome of childhood

    SciTech Connect

    McVicar, M.I.; Chandra, M.; Margouleff, D.; Zanzi, I.

    1986-05-01

    The reticuloendothelial system, including the spleen, subserves important immunologic functions. Loss of splenic function results in an increased incidence of severe bacterial infections and is accompanied by thrombocytosis. Several nephrotic children were noted to have remarkably high platelet counts and predisposition to bacterial infection with encapsulated organisms. We, therefore, investigated the splenic function of nine children with primary nephrotic syndrome and measured the phagocytic function of the spleen by sequestration of Technetium-99-labelled heat-treated autologous RBC, administered intravenously. Four children had decreased splenic function. Repeat studies performed in two of these children after remission of the nephrotic syndrome gave normal results. There were six episodes of bacterial infection (3 peritonitis, 1 septic arthritis, 1 cellulitis, and 1 Escherichia coli urinary tract infection) among the four patients with decreased splenic function. There were no episodes of bacterial infection among the five nephrotic children with normal splenic function. Nephrotic patients with decreased splenic function had significantly increased platelet counts (921,000 +/- 196,000; mean +/- SEM) compared to those with normal function (435,000 +/- 46,000; P less than 0.001). Our findings suggest the possibility that some nephrotic children may have decreased splenic function in association with increased susceptibility to bacterial infections.

  2. Bed sharing and the risk of sudden infant death syndrome: can we resolve the debate?

    PubMed

    Vennemann, Mechtild M; Hense, Hans-Werner; Bajanowski, Thomas; Blair, Peter S; Complojer, Christina; Moon, Rachel Y; Kiechl-Kohlendorfer, Ursula

    2012-01-01

    To conduct a meta-analysis on the relationship between bed sharing and sudden infant death syndrome (SIDS) risk. Data from PubMed and Medline were searched for studies published after Jan 1, 1970. The search strategy included articles with the terms "sudden infant death syndrome," "sudden unexpected death," and "cot death" with "bed sharing" or "co-sleeping." To further specify the potential risk of bed sharing and SIDS, subgroup analyses were performed. Eleven studies met inclusion criteria and were included in the final meta-analysis. The combined OR for SIDS in all bed sharing versus non-bed sharing infants was 2.89 (95% CI, 1.99-4.18). The risk was highest for infants of smoking mothers (OR, 6.27; 95% CI, 3.94-9.99), and infants <12 weeks old (OR, 10.37; 95% CI, 4.44-24.21). Bed sharing is a risk factor for SIDS and is especially enhanced in smoking parents and in very young infants. Copyright © 2012 Mosby, Inc. All rights reserved.

  3. Detection of pyrogenic toxins of Staphylococcus aureus in sudden infant death syndrome.

    PubMed

    Zorgani, A; Essery, S D; Madani, O A; Bentley, A J; James, V S; MacKenzie, D A; Keeling, J W; Rambaud, C; Hilton, J; Blackwell, C C; Weir, D M; Busuttil, A

    1999-08-01

    It has been suggested that pyrogenic toxins of Staphylococcus aureus are involved in the series of events leading to some cases of sudden infant death syndrome (SIDS). The objectives of the study were to screen tissues from SIDS infants for pyrogenic toxins and to compare incidence of identification of these toxins among these infants from different countries. An enzyme-linked immunosorbent assay (ELISA) and a flow cytometry method were used to screen body fluids and frozen or formalin-fixed tissues for pyrogenic toxins of S. aureus, toxic shock syndrome toxin 1 (TSST), staphylococcal enterotoxins A (SEA), B (SEB), and C1 (SEC). Toxins were identified in tissues of 33/62 (53%) SIDS infants from three different countries: Scotland (10/ 19, 56%); France (7/13, 55%); Australia (16/30, 53%). In the Australian series, toxins were identified in only 3/19 (16%) non-SIDS deaths (chi2 = 5.42, P < 0.02). The flow cytometry method was useful for toxin detection in both frozen and fixed tissues, but ELISA was suitable only for frozen tissues or those fixed for less than 12 months. Identification of pyrogenic toxins in > 50% of SIDS infants from three different countries indicated further investigation into the role the toxins play in cot deaths might result in development of additional measures to reduce further the incidence of these infant deaths.

  4. Prader-Willi syndrome: causes of death in an international series of 27 cases.

    PubMed

    Schrander-Stumpel, Constance Th R M; Curfs, Leopold M G; Sastrowijoto, Prapto; Cassidy, Suzanne B; Schrander, Jaap J P; Fryns, Jean-Pierre

    2004-02-01

    Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most cases were not completely documented and autopsy was performed in a minority of cases only. In five cases, death was considered not to be causally related to PWS. Hypotonia with hypoventilation was noted in the babies, and acute respiratory illness with unexpected sudden death was experienced in young children with PWS. Two young children died after a short period of fever and gastroenteritis. Obesity and its complications leading to death were pronounced in the adult group. One (possibly two) adult(s) died from gastric dilatation and shock. Based on these data, some cautious conclusions can be drawn. In babies with PWS hypoventilation is a risk factor; upper airway infection may be more serious than anticipated and any other clinical features pointing to an infection should be taken very seriously. Therefore, young infants with PWS hospitalized with an upper airway infection and/or hypoventilation or gastroenteritis symptoms, should be closely monitored. Early diagnosis and prevention of overweight is a major factor in preventing early causes of death in individuals with PWS. In the adult group, weight reduction is important but difficult to manage. Sleep apnea should be recognized and treated. Pain in the upper stomach and/or vomiting should be taken as a possible sign of acute intestinal dilatation; intravenous support may be life saving.

  5. Childhood systemic lupus erythematosus and neonatal lupus syndrome.

    PubMed

    Sandborg, C I

    1998-09-01

    Systemic lupus erythematosus in children can present with a wide spectrum of disease manifestations. Significant organ system involvement appears to be more severe in children than in adults. Central nervous system disease continues to be difficult to diagnose because of the lack of sensitive and specific diagnostic tests. Renal function is the major determinant of long-term prognosis and management in children with lupus. Identification of patients who are most at risk for progression of renal disease and aggressive treatment, including corticosteroids and immunosuppressive agents, are indicated. Genetic susceptibility studies in lupus reveal multiple contributions from HLA and non-HLA genes. Current concepts regarding apoptosis and DNA-protein complexes and autoreactive T-cell help for anti-DNA antibody production suggest novel directions for therapies. New understandings of the pathogenesis of neonatal lupus syndrome and congenital heart block reveals important information about prospective monitoring and management of mothers and fetuses at risk.

  6. Autoimmune Polyglandular Syndrome Type 2: A Rare Condition in Childhood

    PubMed Central

    Kırmızıbekmez, Heves; Yeşiltepe Mutlu, Rahime Gül; Demirkıran Urgancı, Nafiye; Öner, Ayşe

    2015-01-01

    Autoimmune polyglandular syndrome type 2 is defined as the occurrence of Addison’s disease concomitantly with autoimmune thyroid disease and/or type 1 diabetes mellitus. An 11-year-old boy with Hashimoto’s disease, Addison’s disease, celiac disease and Langerhans islet cell autoimmunity is described in this case report. Treatment of an endocrine disease may also trigger the onset of another endocrine disease. This case report underlines the importance of early recognition and treatment of critical endocrine diseases as well as the necessity to investigate pediatric patients with autoimmune diseases for coexisting conditions. Furthermore, the role of psychological stress as an inducer of autoimmunity was also discussed. PMID:25800482

  7. Refractory Seizure in Childhood: Dyke-Davidoff-Masson Syndrome Revisited.

    PubMed

    Dutta, Abhijit; Bose, Sagar; Sen, Kaushik; Pandit, Narayan; Sharma, Samarth

    2016-07-01

    Dyke-Davidoff-Masson syndrome (DDMS) is a rare disorder characterized by recurrent seizures, facial asymmetry, contralateral hemiplegia, radiologic features of cerebral hemiatrophy, and ipsilateral compensatory hypertrophy of the skull bone and sinuses. We describe three cases of children with DDMS, who initially presented with refractory seizure to the pediatric department of North Bengal Medical College and Hospital, India. In each case, the clinical features noted along with computed tomography or magnetic resonance imaging helped confirm the diagnosis of DDMS. DDMS should be considered as a differential diagnosis of refractory seizures in children. We seek to emphasize the importance of thorough clinical and neuroimaging workup of seizure disorder in children for the proper management of the condition.

  8. Refractory Seizure in Childhood: Dyke-Davidoff-Masson Syndrome Revisited

    PubMed Central

    Dutta, Abhijit; Bose, Sagar; Sen, Kaushik; Pandit, Narayan; Sharma, Samarth

    2016-01-01

    Dyke-Davidoff-Masson syndrome (DDMS) is a rare disorder characterized by recurrent seizures, facial asymmetry, contralateral hemiplegia, radiologic features of cerebral hemiatrophy, and ipsilateral compensatory hypertrophy of the skull bone and sinuses. We describe three cases of children with DDMS, who initially presented with refractory seizure to the pediatric department of North Bengal Medical College and Hospital, India. In each case, the clinical features noted along with computed tomography or magnetic resonance imaging helped confirm the diagnosis of DDMS. DDMS should be considered as a differential diagnosis of refractory seizures in children. We seek to emphasize the importance of thorough clinical and neuroimaging workup of seizure disorder in children for the proper management of the condition. PMID:27403244

  9. [Parsonage-Turner syndrome in childhood and adolescence: case report].

    PubMed

    Pérez-de la Cruza, Sagrario

    2012-10-01

    We present the case of a 17-year-old male whose diagnosis is Parsonage-Turner syndrome relapsing in the right arm. In his medical record, he was diagnosed as having amyotrophic neuralgia of the upper limb in three previous occasions. The diagnosis was similar in all episodes, although the affected upper limb was alternating. He was treated in the Rehabilitation Services of two hospitals. At physical examination, in every relapse, he showed acute pain in both, shoulder and arm, and loss of strength in the shoulder blade and the affected upper limb. The aim of his treatment combines the healing of the pain and, together with physiotherapy, fighting against muscular atrophy. The patient evolved favourably in each of the episodes. Nowadays, he does not show any symptom, and he has been discharged from the rehabilitation service.

  10. [Vitrectomy for retinal proliferation in childhood following hemolytic uremic syndrome].

    PubMed

    Wirths, G; Alnawaiseh, M; Eter, N

    2016-07-01

    The formation of retinal membranes can occur due to a variety of reasons but they are most commonly idiopathic due to the aging process. In addition, epiretinal and subretinal membranes can be formed after severe infections. The present case description shows the appearance of a retinal membrane after hemolytic uremic syndrome caused by Shiga toxin positive E. coli. The question arose whether the patient would benefit from vitrectomy with membrane peeling because of the presence of both epiretinal and subretinal gliotic changes. After the operation on the more severely affected right eye a morphological improvement could be achieved so that an operation on the left eye was also recommended. Judging by the course of this case vitrectomy with membrane peeling seems to be a useful instrument even for the simultaneous presence of subretinal and epiretinal membranes.

  11. Stress and obesity/metabolic syndrome in childhood and adolescence.

    PubMed

    Pervanidou, Panagiota; Chrousos, George P

    2011-09-01

    Chronic distress contributes to the development of obesity and comorbid states. Stress is the disturbance of the complex dynamic equilibrium that all organisms must maintain, and is associated with activation of the Stress system comprising of the hypothalamic-pituitary-adrenal axis and the arousal/sympathetic nervous systems. The stress system functions in a baseline circadian fashion and interacts with other systems of the organism to regulate a variety of behavioral, endocrine, metabolic, immune and cardiovascular functions. The experience of perceived or real uncontrollable intense and/or chronic stress (distress) may lead to several psychopathologic conditions, including anxiety, depressive and psychosomatic disorders, substance abuse, obesity and the metabolic syndrome, and osteoporosis, as well as impaired reproductive and immune functions. Developing children and adolescents are particularly vulnerable to the effects of chronic stress. Both behavioral and biological pathways are involved in the connection between chronic stress and obesity in adults and children. Emotional "comfort" eating, lack of sleep, impulsive behaviours and selection of specific foods often characterize stressed individuals. In addition to specific behaviours, dysregulation of the stress system through increased secretion of cortisol and catecholamines, especially in the evening hours, and in concert with concurrently elevated insulin concentrations, leads to development of central obesity, insulin resistance and the metabolic syndrome. In children, chronic alterations in cortisol secretion may have additional effects on cognitive and emotional development, timing of puberty and final stature. Obese children and adolescents are frequently entangled in a vicious cycle between distress, impairing self-image and distorted self-image, maintaining and worsening distress.

  12. Angelman Syndrome: Mutations Influence Features in Early Childhood

    PubMed Central

    Tan, Wen-Hann; Bacino, Carlos A.; Skinner, Steven A.; Anselm, Irina; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Beaudet, Arthur L.; Bichell, Terry Jo; Gentile, Jennifer K.; Glaze, Daniel G.; Horowitz, Lucia T.; Kothare, Sanjeev V.; Lee, Hye-Seung; Nespeca, Mark P.; Peters, Sarika U.; Sahoo, Trilochan; Sarco, Dean; Waisbren, Susan E.; Bird, Lynne M.

    2012-01-01

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy-four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had UBE3A mutations. Participants with UPD/imprinting defects were heavier (P = 0.0002), while those with deletions were lighter, than the general population (P < 0.0001). Twenty out of 92 participants were underweight, all of whom had deletions or UBE3A mutations. Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. Seventy-four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad-based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD/imprinting defects. PMID:21204213

  13. Angelman syndrome: Mutations influence features in early childhood.

    PubMed

    Tan, Wen-Hann; Bacino, Carlos A; Skinner, Steven A; Anselm, Irina; Barbieri-Welge, Rene; Bauer-Carlin, Astrid; Beaudet, Arthur L; Bichell, Terry Jo; Gentile, Jennifer K; Glaze, Daniel G; Horowitz, Lucia T; Kothare, Sanjeev V; Lee, Hye-Seung; Nespeca, Mark P; Peters, Sarika U; Sahoo, Trilochan; Sarco, Dean; Waisbren, Susan E; Bird, Lynne M

    2011-01-01

    Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression of the maternal copy of UBE3A. Although the "classic" features of AS are well described, few large-scale studies have delineated the clinical features in AS. We present baseline data from 92 children with a molecular diagnosis of AS between 5 and 60 months old who are enrolled in the National Institutes of Health Rare Diseases Clinical Research Network Angelman Syndrome Natural History Study from January 2006 to March 2008. Seventy-four percent of participants had deletions, 14% had either uniparental disomy (UPD) or imprinting defects, and 12% had UBE3A mutations. Participants with UPD/imprinting defects were heavier (P = 0.0002), while those with deletions were lighter, than the general population (P < 0.0001). Twenty out of 92 participants were underweight, all of whom had deletions or UBE3A mutations. Eight out of 92 participants (6/13 (46%) with UPD/imprinting defects and 2/11 (18%) with UBE3A mutations) were obese. Seventy-four out of 92 participants (80%) had absolute or relative microcephaly. No participant was macrocephalic. The most common behavioral findings were mouthing behavior (95%), short attention span (92%), ataxic or broad-based gait (88%), history of sleep difficulties (80%), and fascination with water (75%). Frequent, easily provoked laughter was observed in 60%. Clinical seizures were reported in 65% of participants but all electroencephalograms (EEGs) were abnormal. We conclude that the most characteristic feature of AS is the neurobehavioral phenotype, but specific EEG findings are highly sensitive for AS. Obesity is common among those with UPD/imprinting defects. Copyright © 2010 Wiley-Liss, Inc.

  14. Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome

    PubMed Central

    Ozaltin, Fatih; Ibsirlioglu, Tulin; Taskiran, Ekim Z.; Baydar, Dilek Ertoy; Kaymaz, Figen; Buyukcelik, Mithat; Kilic, Beltinge Demircioglu; Balat, Ayse; Iatropoulos, Paraskevas; Asan, Esin; Akarsu, Nurten A.; Schaefer, Franz; Yilmaz, Engin; Bakkaloglu, Ayşin

    2011-01-01

    Idiopathic nephrotic syndrome (INS) is a genetically heterogeneous group of disorders characterized by proteinuria, hypoalbuminemia, and edema. Because it typically results in end-stage kidney disease, the steroid-resistant subtype (SRNS) of INS is especially important when it occurs in children. The present study included 29 affected and 22 normal individuals from 17 SRNS families; genome-wide analysis was performed with Affymetrix 250K SNP arrays followed by homozygosity mapping. A large homozygous stretch on chromosomal region 12p12 was identified in one consanguineous family with two affected siblings. Direct sequencing of protein tyrosine phosphatase receptor type O (PTPRO; also known as glomerular epithelial protein-1 [GLEPP1]) showed homozygous c.2627+1G>T donor splice-site mutation. This mutation causes skipping of the evolutionarily conserved exon 16 (p.Glu854_Trp876del) at the RNA level. Immunohistochemistry with GLEPP1 antibody showed a similar staining pattern in the podocytes of the diseased and control kidney tissues. We used a highly polymorphic intragenic DNA marker—D12S1303—to search for homozygosity in 120 Turkish and 13 non-Turkish individuals in the PodoNet registry. This analysis yielded 17 candidate families, and a distinct homozygous c.2745+1G>A donor splice-site mutation in PTPRO was further identified via DNA sequencing in a second Turkish family. This mutation causes skipping of exon 19, and this introduces a premature stop codon at the very beginning of exon 20 (p.Asn888Lysfs∗3) and causes degradation of mRNA via nonsense-mediated decay. Immunohistochemical analysis showed complete absence of immunoreactive PTPRO. Ultrastructural alterations, such as diffuse foot process fusion and extensive microvillus transformation of podocytes, were observed via electron microscopy in both families. The present study introduces mutations in PTPRO as another cause of autosomal-recessive nephrotic syndrome. PMID:21722858

  15. Childhood Idiopathic Steroid Resistant Nephrotic Syndrome, Different Drugs And Outcome.

    PubMed

    Hussain Shah, Syed Sajid; Hafeez, Farkhanda

    2016-01-01

    The management of steroid resistant nephrotic syndrome (SRNS) is quite difficult in paediatric patients. Not only the remission is difficult but also these patients are at risk of progression to end stage renal disease (ESRD). The goal of treatment is either to achieve complete remission or even partial remission as it is the most important predictor of disease outcome. This study was conducted at The Children's Hospital, Lahore from February 2014 to May 2015. The SRNS patients of either sex between ages of 1-12 years were included with histology showing mesangioproliferative glomerulonephritis (MesangioPGN), focal segmental glomerulosclerosis (FSGS) or minimal change disease (MCD). Patients were given different immunosuppressant drugs and steroid 30 mg/m2 alternate day therapy on case to case basis and kept on regular follow up to check for response and adverse effects. Total of 105 patients included, 63 (60%) male and 42 (40%) female patients. The age ranges from 1.08 to 12 years, mean age of 6.53 years and SD of ±3.17. Tacrolimus was the most common drug used 43 (41%) patients followed by cyclosporine in 38 (36.2%) patients, while Mycophenolate mofetil (MMF) was prescribed in 21 (20%) patients. Complete response was in 96 (91.4%) initially while partial response was seen in 8 (7.6%) patients. On follow up, 92 (87.6%) patients showed complete response and partial response was in 5 (4.7%) patients. Cushingoid features and hypertrichosis were the most common adverse effect seen. Steroid resistant nephrotic syndrome can be managed well with various immunosuppressant drugs and steroids but treatment should be individualized according to clinical presentation, disease histology and cost/social factors.

  16. A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma.

    PubMed

    Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R

    2017-07-01

    A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge-Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare.

  17. A rare case of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndrome associated with bilateral refractory childhood glaucoma

    PubMed Central

    Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R

    2017-01-01

    A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge–Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare. PMID:28724825

  18. Pulmonary renal syndrome in childhood: a report of twenty-one cases and a review of the literature.

    PubMed

    von Vigier, R O; Trummler, S A; Laux-End, R; Sauvain, M J; Truttmann, A C; Bianchetti, M G

    2000-05-01

    In adults, the term specific pulmonary renal syndrome describes disorders with pulmonary and glomerular manifestations and includes Wegener's granulomatosis, Goodpasture disease, and systemic lupus erythematosus. Nonspecific pulmonary renal syndrome refers to either pulmonary disease complicating glomerular disease, or glomerular diseases following pulmonary disease. Since little is known regarding pulmonary renal syndrome in childhood, we reviewed the charts of 21 pediatric patients with pulmonary renal syndromes treated by the Department of Pediatrics, University of Bern between 1991 and 1998; we also reviewed the pediatric literature that deals with specific pulmonary renal syndromes. Specific pulmonary renal syndrome was noted in 3 children with systemic vasculitis (Wegener granulomatosis, N = 2; microscopic polyangiitis, N = 1) and 2 with systemic lupus erythematosus. Nonspecific pulmonary renal syndrome was observed in 12 patients with pulmonary edema (N = 9), pulmonary thromboembolism (N = 2), and pulmonary infection (N = 1) complicating the course of a glomerular disease, and in 4 children with a pulmonary disease followed by a glomerular disease. Review of the literature disclosed 52 cases of specific pulmonary renal syndrome other than systemic lupus erythematosus: Wegener granulomatosis (N = 28), Goodpasture disease (N = 13), and Henoch-Schönlein purpura (N = 11). In addition, hemolytic uremic syndrome complicated pneumococcal pneumonia in 32 cases. We conclude that pulmonary renal syndromes need to be looked for in childhood. Apart from Wegener granulomatosis, Goodpasture disease, and systemic lupus erythematosus, Henoch-Schönlein purpura and hemolytic-uremic syndrome occasionally have both pulmonary and renal features. Copyright 2000 Wiley-Liss, Inc.

  19. Metabolic syndrome and the risk of sudden cardiac death in middle-aged men.

    PubMed

    Kurl, Sudhir; Laaksonen, David E; Jae, Sae Young; Mäkikallio, Timo H; Zaccardi, Francesco; Kauhanen, Jussi; Ronkainen, Kimmo; Laukkanen, Jari A

    2016-01-15

    Little is known about the relationship between metabolic syndrome and sudden cardiac death (SCD). We examined the association of metabolic syndrome, as defined by World Health Organization (WHO), International Diabetes Federation (IDF), National Cholesterol Education Program (NCEP) and American Heart Association (AHA)--IDF interim criteria, with incident SCD. We also assessed the association of a continuous metabolic risk score with SCD. A total of 1466 middle-aged men participating in a prospective population-based cohort study from eastern Finland with no history of coronary heart disease or diabetes at baseline were included. During the average follow-up of 21 years 85 SCDs occurred. Men with the metabolic syndrome as defined by the WHO, NCEP, IDF and interim criteria had a 2.2-2.6 fold, increased risk for SCD, after adjusting for lifestyle and traditional cardiovascular risk factors not included in the metabolic syndrome definition (P<0.001-0.011). A one-standard deviation increase in the metabolic risk score (composed of the sum of Z-scores for waist circumference, insulin, glucose, high-density lipoprotein (HDL) cholesterol, triglycerides, and blood pressure) was associated with a 1.68-fold higher (95% CI 1.33-2.11) risk of SCD. Even when adjusting further for systolic blood pressure, HDL cholesterol and body mass index, the association remained significant for the interim criteria and the metabolic risk score, but not for WHO, NCEP, or IDF definitions. Men with metabolic syndrome are at increased risk for SCD. Incident SCD associated with the IDF/AHA interim criteria and metabolic risk clustering estimated by a score is not explained by obesity or traditional cardiovascular risk factors. Men with metabolic syndrome are at increased risk for sudden cardiac death. Incident sudden cardiac death associated with metabolic risk clustering estimated by a score in not explained by obesity or traditional cardiovascular risk factors. Prevention of the metabolic

  20. Management of medullary thyroid carcinoma and MEN2 syndromes in childhood.

    PubMed

    Waguespack, Steven G; Rich, Thereasa A; Perrier, Nancy D; Jimenez, Camilo; Cote, Gilbert J

    2011-08-23

    Medullary thyroid carcinoma (MTC) and the multiple endocrine neoplasia (MEN) type 2 syndromes are rare but important endocrine diseases that are increasingly managed by pediatric providers. MTC is generally associated with a favorable prognosis when diagnosed during childhood, where it frequently occurs secondary to activating mutations in the RET proto-oncogene and arises from pre-existing C-cell hyperplasia. MEN2A accounts for 90-95% of childhood MTC cases and is most commonly due to mutations in codon 634 of RET. MEN2B is associated with the most aggressive clinical presentation of MTC and is almost always due to the Met918Thr mutation of RET. Surgery is the primary treatment and only chance of cure, although the advent of targeted therapies seems to be improving progression-free survival in advanced cases. Since the discovery of the role of RET in MEN2A, considerable advances in the management of this syndrome have occurred, and most of the children with MEN2A who have undergone early thyroidectomy will now lead full, productive lives. Strong genotype-phenotype correlations have facilitated the development of guidelines for interventions. Contemporary approaches for deciding the appropriate age at which surgery should take place incorporate data from ultrasonography and calcitonin measurements in addition to the results of genotyping. To optimize care and to facilitate ongoing research, children with MTC and the MEN2 syndromes are optimally treated at tertiary centers with multidisciplinary expertise.

  1. [Sudden death secondary to acute aortic syndromes in the North of Portugal: medico-legal study].

    PubMed

    Moreira, Pedro Costa; Santos, Agostinho

    2013-01-01

    An evaluation is presented on the clinical, pathological and sociodemographic characteristics of a sample of sudden death victims secondary to an Acute Aortic Syndrome (AAS) in the north of Portugal, submitted to medico-legal autopsy, during the period between January 2008 and December 2012. Autopsy reports were analyzed in which, through necropsy and histological examination, the confirmed cause of death was an Acute Aortic Syndrome. From the studied cases, 70.3% of the victims were male. The median age was 65,19 ± 14,35 years (minimum of 27 years and maximum of 88 years). Death occurred mainly at home (40,5%) and during the normal activities of daily living (43,1%). There was an history of prodromes in 64,9% of the cases, mainly syncope and pain or respiratory symptoms. In 62,2% of the cases no pain history was reported. In the internal examination three presentation forms were identified: cardiac tamponade (51,4%); hemotorax (16,2%) and intra-abdominal bleeding (32,4%). The occurence of an Acute Aortic Syndrome was related to an aneurysmatic formation in 81% of the cases. Atherosclerotic plaques were identified in 51,4% of the cases and left ventricular hypertrophy was identified in 54,1%. None of the victims had a family history of aortic pathology and 54,1% of them presented a history of arterial hypertension. Necropsy data analysis of sudden death victims allows a better understanding of the AAS presentation, thus complementing the existent clinical studies. This work reveals how forensic medicine can be a privileged medium for articulation with clinical practice.

  2. Suicide and violent deaths in survivors of cancer in childhood, adolescence and young adulthood-A national cohort study.

    PubMed

    Gunnes, Maria W; Lie, Rolv T; Bjørge, Tone; Ghaderi, Sara; Syse, Astri; Ruud, Ellen; Wesenberg, Finn; Moster, Dag

    2017-02-01

    Suicide risk in adult cancer patients is found to be elevated, but limited information exists regarding risks of suicide and non-suicidal violent deaths when diagnosed with cancer in young age. We investigate suicide and violent deaths in a national cohort including individuals diagnosed with cancer before age 25. Through the linkage of different national registries (Cancer Registry of Norway, Norwegian Causes of Death Registry and the National Registry) a cohort of all live births in Norway during 1965-1985 was defined and followed up through 2008. Individuals diagnosed with cancer before age 25 and the cancer-free references were compared using an extended Cox proportional hazard regression model. The cohort comprised 1,218,013 individuals, including 5,440 diagnosed with cancer before age 25. We identified 24 suicides and 14 non-suicidal violent deaths in the cancer group. The hazard ratio (HR) of suicide in the cancer group was 2.5 (95% confidence interval (CI) 1.7-3.8), and was increased both when diagnosed with cancer in childhood (0-14 years of age); HR = 2.3 (95% CI: 1.2-4.6), and during adolescence/young adulthood (15-24 years); HR = 2.6 (95% CI: 1.5-4.2). Survivors of bone/soft tissue sarcomas, CNS tumors and testicular cancer were at particular risk. The risk of non-suicidal violent death was not increased in the cancer survivors (HR = 1.0; 95% CI: 0.6-1.7). Although based on small numbers and the absolute risk of suicide being low, these are novel findings with important implications for establishing adequate follow-up including suicide prevention strategies for young cancer survivors. © 2016 UICC.

  3. The Role of Spatial Dispersion of Repolarization in Inherited and Acquired Sudden Cardiac Death Syndromes

    PubMed Central

    Antzelevitch, Charles

    2007-01-01

    This review examines the role of spatial electrical heterogeneity within ventricular myocardium on the function of the heart in health and disease. The cellular basis for transmural dispersion of repolarization (TDR) is reviewed and the hypothesis that amplification of spatial dispersion of repolarization underlies the development of life-threatening ventricular arrhythmias associated with inherited ion channelopathies is evaluated. The role of TDR in the long QT, short QT and Brugada syndromes as well as catecholaminergic polymorphic ventricular tachycardia (CPVT) are critically examined. In the long QT Syndrome, amplification of TDR is often secondary to preferential prolongation of the action potential duration (APD) of M cells, whereas in the Brugada Syndrome, it is thought to be due to selective abbreviation of the APD of right ventricular (RV) epicardium. Preferential abbreviation of APD of either endocardium or epicardium appears to be responsible for amplification of TDR in the short QT syndrome. In catecholaminergic polymorphic VT, reversal of the direction of activation of the ventricular wall is responsible for the increase in TDR. In conclusion, the long QT, short QT, Brugada and catecholaminergic polymorphic VT syndromes are pathologies with very different phenotypes and etiologies, but which share a common final pathway in causing sudden cardiac death. PMID:17586620

  4. Pathophysiology, Evaluation, and Management of Edema in Childhood Nephrotic Syndrome

    PubMed Central

    Ellis, Demetrius

    2016-01-01

    Generalized edema is a major presenting clinical feature of children with nephrotic syndrome (NS) exemplified by such primary conditions as minimal change disease (MCD). In these children with classical NS and marked proteinuria and hypoalbuminemia, the ensuing tendency to hypovolemia triggers compensatory physiological mechanisms, which enhance renal sodium (Na+) and water retention; this is known as the “underfill hypothesis.” Edema can also occur in secondary forms of NS and several other glomerulonephritides, in which the degree of proteinuria and hypoalbuminemia, are variable. In contrast to MCD, in these latter conditions, the predominant mechanism of edema formation is “primary” or “pathophysiological,” Na+ and water retention; this is known as the “overfill hypothesis.” A major clinical challenge in children with these disorders is to distinguish the predominant mechanism of edema formation, identify other potential contributing factors, and prevent the deleterious effects of diuretic regimens in those with unsuspected reduced effective circulatory volume (i.e., underfill). This article reviews the Starling forces that become altered in NS so as to tip the balance of fluid movement in favor of edema formation. An understanding of these pathomechanisms then serves to formulate a more rational approach to prevention, evaluation, and management of such edema. PMID:26793696

  5. Genetic susceptibility to obesity and metabolic syndrome in childhood.

    PubMed

    Aguilera, Concepción M; Olza, Josune; Gil, Angel

    2013-09-01

    Obesity is one of the major public health problems worldwide. It is a chronic, complex, and multifactorial origin disease characterised by body fat excess mainly due to an imbalance between dietary intake and energy expenditure. One of the major complications of obesity is metabolic syndrome, which comprises anthropometrical, clinical, and metabolic dysfunctions that predispose the affected individual to the development of type 2 diabetes mellitus and cardiovascular diseases. It is hypothesised that the variability in the susceptibility to obesity-mediated metabolic complications involves both environmental and genetic factors. Whereas advances in the knowledge of the variations in the human genome have led to the identification of susceptibility genes that contribute to obesity and related disorders, relatively few studies have specifically focused on the interactions between obesity and genetic polymorphisms and the development of metabolic complications. Despite these limited efforts, an increasing amount of evidence suggests that the effects of some gene variants on metabolic traits are modified by or present only in the setting of obesity. Furthermore, some of these loci may have larger effects on metabolic phenotypes in the presence of certain dietary or lifestyle factors. In the present manuscript, we reviewed the genes and their variants that have been evidenced to play a role in obesity-associated metabolic complications through genetic association studies, including candidate gene and genome-wide association approaches in adults and children.

  6. Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

    PubMed Central

    Gee, Heon Yung; Ashraf, Shazia; Wan, Xiaoyang; Vega-Warner, Virginia; Esteve-Rudd, Julian; Lovric, Svjetlana; Fang, Humphrey; Hurd, Toby W.; Sadowski, Carolin E.; Allen, Susan J.; Otto, Edgar A.; Korkmaz, Emine; Washburn, Joseph; Levy, Shawn; Williams, David S.; Bakkaloglu, Sevcan A.; Zolotnitskaya, Anna; Ozaltin, Fatih; Zhou, Weibin; Hildebrandt, Friedhelm

    2014-01-01

    Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS). SRNS inevitably leads to end-stage kidney disease, and no curative treatment is available. To date, mutations in more than 24 genes have been described in Mendelian forms of SRNS; however, no Mendelian form of SSNS has been described. To identify a genetic form of SSNS, we performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. We thereby detected biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. We showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. At the cellular level, we showed that knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation. Our data therefore identify EMP2 mutations as causing a recessive Mendelian form of SSNS. PMID:24814193

  7. Malnutrition as an underlying cause of childhood deaths associated with infectious diseases in developing countries.

    PubMed Central

    Rice, A. L.; Sacco, L.; Hyder, A.; Black, R. E.

    2000-01-01

    INTRODUCTION: Recent estimates suggest that malnutrition (measured as poor anthropometric status) is associated with about 50% of all deaths among children. Although the association between malnutrition and all-cause mortality is well documented, the malnutrition-related risk of death associated with specific diseases is less well described. We reviewed published literature to examine the evidence for a relation between malnutrition and child mortality from diarrhoea, acute respiratory illness, malaria and measles, conditions that account for over 50% of deaths in children worldwide. METHODS: MEDLINE was searched for suitable review articles and original reports of community-based and hospital-based studies. Findings from cohort studies and case-control studies were reviewed and summarized. RESULTS: The strongest and most consistent relation between malnutrition and an increased risk of death was observed for diarrhoea and acute respiratory infection. The evidence, although limited, also suggests a potentially increased risk for death from malaria. A less consistent association was observed between nutritional status and death from measles. Although some hospital-based studies and case-control studies reported an increased risk of mortality from measles, few community-based studies reported any association. DISCUSSION: The risk of malnutrition-related mortality seems to vary for different diseases. These findings have important implications for the evaluation of nutritional intervention programmes and child survival programmes being implemented in settings with different disease profiles. PMID:11100616

  8. Prematurity and sudden infant death syndrome: United States 2005-2007.

    PubMed

    Malloy, M H

    2013-06-01

    In 1987, the sudden infant death syndrome (SIDS) rate in the United States was 1.2 per 1000 live births. By the year 2005, the SIDS rate had dropped more than half to approximately 0.5 per 1000 live births. In 1987, the risk of SIDS was 2.32 times greater for extremely premature infants compared with term infants. The objective of this analysis was to determine if with the falling SIDS rate there has been a change in the risk for SIDS among preterm infants. Data were obtained from the United States Linked Infant Birth and Death Certificate Public User Period files for the years 2005 to 2007. The adjusted odds ratios (ORs) for postneonatal out-of-hospital death by gestational age were determined by logistic regression modeling. Over the 3-year period, there were 5203 postneonatal out-of-hospital deaths attributable to SIDS; 2010 attributable to other sudden deaths; 1270 attributable to suffocation in bed; and 3681 attributable to other causes. The adjusted OR for SIDS among the most preterm infants (24 to 28 weeks gestation) was significantly increased compared with term infants, OR(adj)=2.57 (95% confidence interval=2.08, 3.17), as were the adjusted ORs for the other causes of sudden infant death. Despite the marked drop in the incidence of SIDS since 1987, the risk for SIDS among preterm infants remains elevated. Other causes of sudden infant death for which SIDS is often mistaken reflect similar levels of increased risk among preterm infants.

  9. Patients reporting ritual abuse in childhood: a clinical syndrome. Report of 37 cases.

    PubMed

    Young, W C; Sachs, R G; Braun, B G; Watkins, R T

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. Patients came from a variety of separate clinical settings and geographical locations and reported a number of similar abuses. The most frequently reported types of ritual abuse are outlined, and a clinical syndrome is presented which includes dissociative states with satanic overtones, severe post-traumatic stress disorder, survivor guilt, bizarre self abuse, unusual fears, sexualization of sadistic impulses, indoctrinated beliefs, and substance abuse. Questions relating to issues of reliability, credibility and verifiability are addressed in depth, and the findings and implications are discussed.

  10. [Sleeping habits related to sudden infant death syndrome: a population-based study].

    PubMed

    Geib, Lorena Teresinha Consalter; Nunes, Magda Lahorgue

    2006-02-01

    This cross-sectional study on sleeping habits with potential risk for sudden infant death syndrome included all live births in Passo Fundo, Rio Grande do Sul, Brazil, in 2003 with data collection from Certificates of Live Birth and interviews, analyzed with descriptive statistics and the chi-squared test. From the 2,634 live births, 2,285 children were selected (86.75%), with 8.4% exclusion and 5.2% losses. Protective habits included 77% of infants with appropriate clothing, 90% loosely wrapped, 69% with thin blankets, 98% sleeping in the parents' bedroom, and 56% in the crib. Potentially risky habits included lateral decubitus (92%), use of a pillow (88%), and feet far from the lower edge of the crib (96%). Among low-income families, bed-sharing with other children was significant (p = 0.00). Thus, in a county with a low prevalence of sudden infant death syndrome, infants are exposed to both protective and risk factors, suggesting that in underprivileged populations in developing countries, other risk factors for this syndrome should be considered.

  11. Sudden arrhythmic death syndrome: diagnostic yield of comprehensive clinical evaluation of pediatric first-degree relatives.

    PubMed

    Giudici, Valentina; Spanaki, Adriani; Hendry, Jennifer; Mead-Regan, Sarah; Field, Ella; Zuccotti, Gian Vincenzo; Abrams, Dominic; Lowe, Martin; Kaski, Juan Pablo

    2014-12-01

    Sudden arrhythmic death syndrome (SADS) is most often caused by heritable cardiac diseases. Studies in adults have identified evidence of inherited cardiovascular diseases in up to 53% of families, but data on the prevalence of familial disease in children are scarce. The aim of this study was to evaluate the yield of clinical screening in pediatric first-degree relatives of victims of SADS using a systematic and comprehensive protocol. Patients referred for family screening after sudden cardiac death (SCD) of a family member were, retrospectively, enrolled into the study. Systematic evaluation of the children included clinical examination, family history, electrocardiogram (ECG), echocardiogram, 24-hour tape, and signal-averaged ECG. Older patients also underwent exercise testing, cardiac magnetic resonance imaging, and ajmaline provocation testing. A total of 90 children from 52 consecutive families were included in the study. An inherited cardiac disease was identified in seven first-degree children from seven (13.5%) families (five children were diagnosed with Brugada syndrome, one with long QT syndrome, and one with catecholaminergic polymorphic ventricular tachycardia). Two further children had late potentials on signal-averaged ECGs with no other abnormalities. These data show a high prevalence of inherited heart disease in pediatric first-degree relatives of SADS victims. The results highlight the importance of a systematic, comprehensive approach and ongoing screening of pediatric family members. ©2014 Wiley Periodicals, Inc.

  12. Sudden infant death syndrome: near-weightlessness and delayed neural transformation.

    PubMed

    Reid, G M; Tervit, H M

    1996-04-01

    Dilation of the pulmonary arteries and increased pulmonary blood volume are recorded in sudden infant death syndrome and in infants living at low barometric pressures (high altitude). Low barometric pressure leads to chronic alveolar hypoxia (1,2). There is diversion and loss of body-fluid under conditions of microgravity (near-weightlessness) encountered in human space-travel and prolonged bedrest (3). The condition mimics shock and oligemia (4,5). The human neonate has underdeveloped postural mechanisms and low muscle-power. A transformation begins at about two months of age, which enables the human infant to adapt to the extrauterine environment (6). The neonate resembles the space traveller who, in a near-weightlessness antigravity environment, develops baroreceptor incompetence, visceral and venous congestion and oliguria. The low birthweight infant displays many of the disorders of the space traveller, viz. poor circulation, high blood-glucose, insulin resistance, weak muscles, slow gut absorption and bone demineralization (7-10). These conditions are virtually identical with the internal adjustments the body makes on lying down (negative gravity or near-weightlessness). We discuss the similarities of sudden infant death syndrome to low barometric pressure environment, orthostatic intolerance, the Pickwickian syndrome and X disease.

  13. Death of a female cocaine user due to the serotonin syndrome following moclobemide-venlafaxine overdose.

    PubMed

    Kłys, Małgorzata; Kowalski, Piotr; Rojek, Sebastian; Gross, Adam

    2009-01-30

    To our knowledge, the majority of evidence supporting the relationship between the serotonin syndrome and medications that effect 5HT is based on case reports. The justification for taking up this subject has been a fatal outcome of a 21 year-old female following an administration of toxic doses of moclobemide (MAOI) and venlafaxine (SNRI). As a result of complex toxicological investigations including antemortem and postmortem material, antemortem clinical observations and postmortem examinations, the cause of death was identified as overdose with antidepressants--moclobemide and venlafaxine--in the mechanism of the clinically fully developed severe toxic serotonin syndrome. The analysis of a hair strand collected from the victim documented the use of the above-mentioned drugs simultaneously with cocaine in the period of at least 20 months preceding death. The fact is a matter of considerable interest in view of the employed pharmacotherapy, giving rise to suspicion that the woman had not developed the serotonin syndrome during the almost 2-year antemortem period until she took toxic doses of both medications.

  14. Polymorphisms in genes of respiratory control and sudden infant death syndrome.

    PubMed

    Läer, Katharina; Dörk, Thilo; Vennemann, Marielle; Rothämel, Thomas; Klintschar, Michael

    2015-09-01

    Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved in respiratory control mediated in the medulla oblongata contribute to SIDS. Therefore, a total of 366 SIDS cases and 421 controls were genotyped for 48 SNPs in 41 candidate genes. Genotyping was performed using Fluidigm nanofluidic technology. Results were obtained for 356 SIDS and 406 controls and 38 SNPs. After correction for multiple testing, one SNP retained a nominally significant association with seasonal SIDS: rs1801030 in the phenol sulfotransferase 1A1 gene (subgroup: death occurring during summer). A borderline association could be also observed for rs563649 in the opioid receptor μ1 gene in a recessive model (subgroup: death occurring during autumn). As a conclusion, although these data suggest two SNPs to be associated with different subgroups of SIDS cases, none of them can fully explain the SIDS condition, consistent with its multifactorial etiology. Given the great complexity of respiratory control and our initial findings reported here, we believe it is worthwhile to further investigate genes involved in the respiratory system.

  15. [Factors affecting prognosis in childhood Guillain Barré syndrome].

    PubMed

    Ortiz Corredor, F

    Guillain Barré syndrome (GBS) is the most frequent cause of acute flaccid paralysis in children. The factors that come to bear on its prognosis have not been properly determined in Latin America. Our aim was to establish the clinical and electrophysiological indicators of GBS in a group of paediatric patients attended in a tertiary care hospital. Patients and methods. We conducted a prospective study involving 67 patients who were hospitalised in the Instituto de Ortopedia Infantil Roosevelt between 1999 and 2002 after having been diagnosed as suffering from GBS. The clinical and electrophysiological characteristics were evaluated during the first month of illness and a clinical follow up was carried out until the patients reached stage III on Hughes' functional disability scale. Initially, it was observed that the protracted plateau time, the quadriplegia on day 10 of the disease and the electrical non excitability demonstrated by means of neuroconduction studies were variables linked to a protracted recovery time. Patients with a protracted recovery time required respiratory assistance more often, but this association was not statistically significant. In the Kaplan Meier survival analysis and the Cox analysis employed to determine the effects of covariance, the presence of quadriplegia associated to electrical non excitability were identified as significant variables in nine patients who required a longer time to reach Hughes stage III (mean: 172.7 days, 95% confidence intervals: 143.51 202.05). Patients with excitable motor nerves (EMN) and without quadriplegia reached functional stage III more quickly (mean: 39.51 days, 95% confidence intervals: 25.79 53.24). Children with GBS who display EMN and quadriplegia on day 10 of the illness are the group with the poorest prognosis and have a very long motor recovery time.

  16. Migraine equivalents as part of migraine syndrome in childhood.

    PubMed

    Tarantino, Samuela; Capuano, Alessandro; Torriero, Roberto; Citti, Monica; Vollono, Catello; Gentile, Simonetta; Vigevano, Federico; Valeriani, Massimiliano

    2014-11-01

    Migraine equivalents are common clinical conditions without a headache component, occurring as repeated episodes with complete remission between episodes. They include abdominal migraine, cyclical vomiting, benign paroxysmal vertigo, and benign paroxysmal torticollis. Other clinical entities, such as motion sickness and limb pain have been associated with migraine. We aimed to investigate the prevalence of migraine equivalents in a large population of children referred to a pediatric headache center and to analyze the possible relationship between migraine equivalents and headache features. A total of 1134 of children/adolescents (73.2% with migraine and 26.8% with tension-type headache) were included. Patients were divided into two groups according to the episode frequency (high and low). Pain intensity was rated on a three-level graduate scale (mild, moderate, and severe pain). Migraine equivalents were reported in 70.3% of patients. Abdominal migraine (48.9%), limb pain (43.9%), and motion sickness (40.5%) were the most common migraine equivalents. Although headache type (migraine or tension-type headache) did not correlate with migraine equivalents presence (χ(2) = 33.2; P = 0.27), high frequency of headache episodes correlated with the occurrence of migraine equivalents. Moreover, migraine equivalents indicated a protective role for some accompanying feature of the headache episode. Our results suggest that migraine equivalents should not be considered merely as headache precursors, but they as part of the migrainous syndrome. Thus, their inclusion among the diagnostic criteria for pediatric migraine/tension-type headache is useful. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Risk factors for childhood asthma deaths from the UK Eastern Region Confidential Enquiry 2001-2006.

    PubMed

    Anagnostou, Katherine; Harrison, Brian; Iles, Richard; Nasser, Shuaib

    2012-03-01

    Confidential enquiries into asthma deaths can identify inadequacies in medical management and factors which contribute to patients' death. To identify risk factors for paediatric asthma deaths over a 6-year period. Observational case-series study of paediatric asthma deaths between 2001-2006 in the UK Eastern Region. Hospital, primary care and post-mortem data were obtained for every child (≤17 yrs) with asthma recorded on the death certificate, and a detailed questionnaire was completed. Information was obtained on asthma severity, medications, hospital admissions, GP and hospital follow-up, adherence, psychosocial / behavioural factors, allergies, details of the terminal attack and precipitating factors. 20 children (10 male; 8-17 yrs; median: 11.5 yrs) died of asthma between 2001-2006. 9/20 had mild to moderate asthma (BTS/ SIGN criteria), 10/20 had severe asthma and 1 child was not known to have asthma. 13/20 were clinically atopic. Only 3 had undergone allergy assessment. 10/20 died between June and August. 12/20 children had adverse psychosocial and behavioural factors. 7/20 children were on non-combination long-acting β2-agonist (LABA) treatment without inhaled corticosteroids (ICS). Almost half the deaths occurred in children with mild/moderate asthma. We recommend that allergic factors and seasonal allergy should be identified early, non-combination LABAs avoided, and speculate that overuse of short-acting β2-agonists (SABAs) may indicate non-adherence with ICS. Asthma deaths in children can be avoided if risk factors are identified early.

  18. Childhood opsoclonus-myoclonus syndrome: A case series from Tunisia.

    PubMed

    Ben Achour, Nedia; Mrabet, Saloua; Rebai, Ibtihel; Abid, Ines; Benrhouma, Hanene; Klaa, Hedia; Rouissi, Aida; Kraoua, Ichraf; Ben Youssef Turki, Ilhem

    2017-10-01

    Opsoclonus myoclonus syndrome (OMS) is a rare immune-mediated disorder characterized by opsoclonus, myoclonus, ataxia and behavioral changes. The aim of our study was to investigate the epidemiology, clinical features, etiological aspects and outcome of OMS in Tunisian children. We conducted a retrospective study over 11years (2005-2016) including all patients aged under 18years who were managed for newly diagnosed OMS in a tertiary care research centre for children with neurological symptoms. Epidemiological and clinical data were analyzed. Fifteen patients were included. The male-female ratio was 7:8. Median age of onset was 4.32years (range: 14months-16years). Time to diagnosis ranged between 2days and 10months. Median follow-up period was 3.8years (range: 2-6years). Acute ataxia was the preponderant inaugural feature. Mean severity score was 9 (range: 3-14). In "Tumor group" (n=7), the main underlying malignancy was neuroblastoma identified in 5 patient. In "No tumor group" (n=8), parainfectious and idiopathic OMS were identified in 5 and 3 patients, respectively. All patients received immunomodulatory treatment. Complete recovery of OMS symptoms was obtained in 12 children. Comparing the "Tumor group" and the "No tumor group", there were no differences in age of onset, sex ratio, main presenting symptom, median OMS severity score or responsiveness to treatment. However, sleep and behavioral disturbances were more frequent in the "No tumor group" (p=0.04). Neurological sequelae were equally found in both groups. Annual incidence of OMS in Tunisia could be estimated as 0.6 patients in children per million per year. Diagnosis may be challenging especially when the triad is incomplete. Although behavioral disturbances seem to be more frequent in the "No tumor group", our study suggests that there is no specific features differentiating paraneoplastic OMS from non paraneoplastic OMS. Acute symptoms are responsive to immunomodulatory treatment but long term follow

  19. Idiopathic Infantile Arterial Calcification: A Rare Cause of Sudden Unexpected Death in Childhood

    PubMed Central

    Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho

    2010-01-01

    Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691

  20. When the spirit leaves: Childhood death, grieving, and bereavement in Islam.

    PubMed

    Hedayat, Kamyar

    2006-12-01

    The death of a child has a profound and often long-lasting impact on families. The parent's relationship and their ability to bond with and take care of surviving children may be affected. It is important for healthcare workers to understand the dynamics associated with bereavement, especially when the family comes from a non-Western culture. Islam is one of the three most populous religions along with Christianity and Hinduism and the fastest growing religion in the United States but remains largely misunderstood. This paper seeks to explain what Islam is, who is a Muslim, where they live, and what they believe and practice. It also explains how Islamic beliefs contextualize the meaning of life and death for Muslims and how they are exhorted to grieve upon a child's death. Reading this paper will enable those who care for Muslim families to better attend to the social and emotional needs of Muslim parents and siblings after such a tragic event.

  1. Neuromyelitis Optica in Pregnancy Complicated by Posterior Reversible Encephalopathy Syndrome, Eclampsia and Fetal Death

    PubMed Central

    Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha

    2015-01-01

    Neuromyelitis optica (NMO) is a demyelinating syndrome characterized by optic neuritis and acute myelitis with poor recovery and a progressive course. We report a poor outcome complicated by posterior reversible encephalopathy syndrome (PRES) and eclampsia and review available literature and current evidence for anticipation of adverse fetal and maternal effects. After a pregnancy complicated by multiple admissions for painful NMO exacerbations, a primiparous patient with seropositive NMO presented at 31 + 3/7 weeks with eclampsia, HELLP and subsequent fetal death. MRI confirmed PRES. NMO may be associated with eclampsia and leads to adverse maternal and fetal outcomes. Posited mechanisms include antibody-mediated placental damage and a heightened risk of eclampsia-associated PRES. Further characterization of the course of NMO and its relationship with pregnancy outcomes in larger series would be invaluable. PMID:25584107

  2. Throw caution to the wind: is refeeding syndrome really a cause of death in acute care?

    PubMed

    Matthews, K L; Capra, S M; Palmer, M A

    2017-08-16

    Refeeding syndrome (RFS), a life-threatening medical condition, is commonly associated with acute or chronic starvation. While the prevalence of patients at risk of RFS in hospital reportedly ranges from 0 to 80%, the prevalence and types of patients who die as a result of RFS is unknown. We aimed to measure the prevalence rate and examine the case histories of patients who passed away with RFS listed as a cause of death. Patients were eligible for inclusion provided their death occurred within a Queensland hospital. Medical charts were reviewed, for medical, clinical and nutrition histories with results presented using descriptive statistics. Across 18 years (1997-2015) and ~260000 hospital deaths, five individuals (4F, 74 (37-87)yrs) were identified. No patient had a past or present diagnosis, such as anorexia nervosa, that would classify them as at high risk for RFS. RFS was not listed as the primary cause of death for any patient. No individual consumed >3400 kJ per day. Limited consensus was observed in the signs and symptoms used to diagnose RFS, although all patients experienced low levels of potassium, phosphate and/or magnesium. Eighty percent of electrolytes improved before death. RFS was a rare underlying cause of death, despite reported high prevalence rates of risk. Patient groups usually considered to be at high risk were not identified, suggesting a level of imprecision with the interpretation of criteria used to identify RFS risk. More detailed research is warranted to assist in the identification of those distinctly at risk of RFS.European Journal of Clinical Nutrition advance online publication, 16 August 2017; doi:10.1038/ejcn.2017.124.

  3. Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

    PubMed

    Evans, Angharad; Bagnall, Richard D; Duflou, Johan; Semsarian, Christopher

    2013-09-01

    Sudden infant death syndrome (SIDS) is the unexpected death of a child younger than 1 year that remains unexplained after thorough evaluation. The possibility of an underlying primary arrhythmogenic disorder has been proposed as a potential cause of SIDS. This study sought to review SIDS deaths and to perform genetic analysis in key genes that may contribute to sudden death. From 2000 to 2010, all postmortem records from the Department of Forensic Medicine in Sydney, Australia, were reviewed. Cases that gave the cause of death as "SIDS" or "undetermined" but consistent with SIDS were included. In a subset of cases, the hyperpolarization-activated cyclic nucleotide (HCN)-gated channel family of genes (HCN2 and HCN4) was analyzed. A total of 226 SIDS cases were identified; 61% were male, 41% occurred while bed sharing, and there was a peak in deaths between 2 and 4 months old. The incidence did not decrease over the study period. In a subgroup of SIDS cases (n = 46), genetic analysis identified 2 likely pathogenic variants (2/46; 4%). A novel nonsynonymous variant, HCN4-Ala195Val, predicted to be pathogenic, was identified in a female infant who died at age 4 months. A female infant aged 5 weeks carried a rare nonsynonymous variant, HCN4-Val759Ile, which is similar to previously described variants associated with cardiac arrhythmias. In conclusion, the incidence of SIDS remains constant, with no apparent decline in the last decade. The underlying cause of SIDS remains largely unknown. Mutations in cardiac ion channel genes including rare nonsynonymous HCN gene variants may play a role in the pathogenesis of some SIDS cases. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. Excited Delirium and Sudden Death: A Syndromal Disorder at the Extreme End of the Neuropsychiatric Continuum

    PubMed Central

    Mash, Deborah C.

    2016-01-01

    Over the past decade, the excited delirium syndrome (ExDS) has raised continued controversy regarding the cause and manner of death of some highly agitated persons held in police custody, restrained or incapacitated by electrical devices. At autopsy, medical examiners have difficulty in identifying an anatomic cause of death, but frequently cite psychostimulant intoxication as a contributing factor. The characteristic symptoms of ExDS include bizarre and aggressive behavior, shouting, paranoia, panic, violence toward others, unexpected physical strength, and hyperthermia. Throughout the United States and Canada, these cases are most frequently associated with cocaine, methamphetamine, and designer cathinone abuse. Acute exhaustive mania and sudden death presents with behavioral symptoms that are identical to what is described for ExDS in psychostimulant abusers. Bell's mania or acute exhaustive mania was first described in the 1850's by American psychiatrist Luther Bell in institutionalized psychiatric patients. This rare disorder of violent mania, elevated body temperature and autonomic collapse continued to be described by others in the psychiatric literature, but with different names until the first cases of ExDS were seen at the beginning of the cocaine epidemic by medical examiners. The neurochemical pathology examination of brain tissues after death revealed a loss of dopamine transporter regulation together with increases in heat shock protein 70 (hsp70) expression as a biomarker of hyperthermia. The similarity in the behavioral symptoms between extremely agitated psychostimulant abusers and unmedicated psychiatric patients suggests that a genetic disorder that leads to dysregulated central dopamine transporter function could be a precipitating cause of the acute delirium and sudden death. While the precise cause and mechanism of lethality remains controversial, the likely whys and wherefores of sudden death of ExDS victims are seen to be

  5. The Influence of Religious Awareness Program in Scaling down Death Anxiety among Children Sample in Late Childhood Stage; 9-12 Years Old in Al Shobak Province

    ERIC Educational Resources Information Center

    Al-Mohtadi, Reham Mohammad; Al-Msubheen, Moonerh Mheel

    2017-01-01

    This study drives at identifying the influence of religious awareness program in scaling down the death anxiety among sample consisted of (50) students; (30) males and (20) females, at the late childhood stage. The sample distributed randomly into (25) students representing main group and (25) students as experimental group. Religious Awareness…

  6. Causes of death in patients with asthma and asthma–chronic obstructive pulmonary disease overlap syndrome

    PubMed Central

    Harada, Tomoya; Yamasaki, Akira; Fukushima, Takehito; Hashimoto, Kiyoshi; Takata, Miki; Kodani, Masahiro; Okazaki, Ryota; Takeda, Kenichi; Watanabe, Masanari; Kurai, Jun; Shimizu, Eiji

    2015-01-01

    Background The administration of inhaled corticosteroids and worldwide usage of several asthma guidelines have improved asthma mortality. Elderly patients with asthma show high mortality rates, and may have several comorbidities, including overlap with chronic obstructive pulmonary disease (COPD). Among patients showing asthma overlapped with COPD (asthma–COPD overlap syndrome; ACOS), mortality is worse than for asthma alone. Therefore, we investigated comorbidities, malignancies, and causes of death in patients with asthma and ACOS. Methods This was a retrospective study. From January 2000 to March 2012, 650 patients were followed up at Tottori University Hospital. Medical records were reviewed to collect data regarding patient characteristics and comorbidities, and causes of death were recorded for patients who died during the study period. Results Eighty-seven patients died during the study period. The most frequent cause of death was malignancy. The proportion of malignant disease was 21.7% in all patients, 19.4% in patients with asthma alone, and 32.4% in patients with ACOS. One patient died from an asthma attack during this period. Conclusion The most frequent cause of death in patients with asthma and ACOS was malignant disease. It is necessary to control not only asthma but also comorbidities in patients with asthma, especially in those with ACOS. PMID:25834418

  7. Shaken baby syndrome: re-examination of diffuse axonal injury as cause of death.

    PubMed

    Oehmichen, Manfred; Schleiss, Daniela; Pedal, Ingo; Saternus, Klaus-Steffen; Gerling, Ivana; Meissner, Christoph

    2008-09-01

    The discussion surrounding shaken baby syndrome (SBS) arose from the lack of evidence implicating diffuse axonal injury (DAI) as a cause of death. It was assumed instead that injury to the cervical cord, medulla, and nerve roots played a causal role. The present pathomorphological study examines 18 selected infants (<1-year-old) whose deaths were highly suspicious for SBS, exhibiting the classical SBS triad of acute subdural hemorrhage (SDH), retinal bleeding, and encephalopathy. Gross autopsy and microscopic findings of these infants were compared with those of 19 victims of sudden infant death syndrome (SIDS; control group 1) and of 14 infants who died of disease or injuries/violence not involving the head, neck or eyes (control group 2). Symptoms of mechanical impact to the head were evident in seven of the SBS infants, but in none of the control infants. DAI was not detected in either the SBS or control cases. Localized axonal injury (AI) was regularly present in the brains of the SBS infants surviving longer than 1.5-3.0 h, but only occasionally in the craniocervical junction and within the nerve roots of the upper cervical cord; it was never present in the medulla. Epidural hemorrhage of the cervical cord was seen in four of the ten examined SBS cases, but in none of the control cases. Based on the absence of DAI in the brain and of signs of generalized cervical cord or nerve root injuries, we conclude that the cause of death in the SBS victims was a global cerebral ischemia secondary to SDH, focal vasospasm, trauma-induced transitory respiratory and/or circulatory failure.

  8. Neonatal abstinence syndrome and early childhood morbidity and mortality in Washington state: a retrospective cohort study.

    PubMed

    Witt, C E; Rudd, K E; Bhatraju, P; Rivara, F P; Hawes, S E; Weiss, N S

    2017-07-06

    The objective of the study was to evaluate the association between neonatal abstinence syndrome (NAS) and long-term childhood morbidity and infant mortality. We conducted a cohort study of infants born in Washington State during 1990 to 2008 who were diagnosed with NAS (n=1900) or were unexposed (n=12,283, frequency matched by birth year). 5-year hospital readmissions and infant mortality were ascertained. Children with history of NAS had increased risk of readmission during the first 5 years of life relative to unexposed children; this remained statistically significant after adjustment for maternal age, maternal education, gestational age and intrapartum smoking status (readmission rates: NAS=21.3%, unexposed=12.7%, adjusted relative risk (aRR) 1.54, 95% confidence interval (CI) 1.37 to 1.73). NAS was associated with increased unadjusted infant mortality risk, but this did not persist after adjustment (aRR 1.94, 95% CI 0.99 to 3.80). The observed increased risk for childhood hospital readmission following NAS diagnosis argues for development of early childhood interventions to prevent morbidity.Journal of Perinatology advance online publication, 6 July 2017; doi:10.1038/jp.2017.106.

  9. Does Childhood Victimization Increase the Risk of Early Death? A 25-Year Prospective Study.

    ERIC Educational Resources Information Center

    White, Helene Raskin; Widom, Cathy Spatz

    2003-01-01

    This study compared mortality data and causes of death in a sample of 908 abused and/or neglected individuals and 667 matched controls followed for 25 years into young adulthood. The study found no significant differences in rates of mortality for the two groups and victims of child abuse and neglect were not more likely to experience a violent…

  10. List-learning and verbal memory profiles in childhood epilepsy syndromes.

    PubMed

    Schraegle, William A; Nussbaum, Nancy L; Stefanatos, Arianna K

    2016-09-01

    Findings of material-specific influences on memory performance in pediatric epilepsy are inconsistent and merit further investigation. This study compared 90 children (aged 6years to 16years) with childhood absence epilepsy (CAE), frontal lobe epilepsy (FLE), and temporal lobe epilepsy (TLE) to determine whether they displayed distinct list-learning and verbal memory profiles on the California Verbal Learning Test - Children's Version (CVLT-C). Group comparison identified greater risk of memory impairment in children with TLE and FLE syndromes but not for those with CAE. While children with TLE performed worst overall on Short Delay Free Recall, groups with TLE and FLE performed similarly on Long Delay Free Recall. Contrast indices were then employed to explore these differences. Children with TLE demonstrated a significantly greater retroactive interference (RI) effect compared with groups with FLE and CAE. Conversely, children with FLE demonstrated a significantly worse learning efficiency index (LEI), which compares verbal memory following repetition with initial recall of the same list, than both children with TLE and CAE. These findings indicated shallow encoding related to attentional control for children with FLE and retrieval deficits in children with TLE. Finally, our combined sample showed significantly higher rates of extreme contrast indices (i.e., 1.5 SD difference) compared with the CVLT-C standardization sample. These results underscore the high prevalence of memory dysfunction in pediatric epilepsy and offer support for distinct patterns of verbal memory performance based on childhood epilepsy syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. [Childhood-onset systemic polyarteritis nodosa and systemic lupus erythematosus: an overlap syndrome?

    PubMed

    Marques, Victor L S; Guariento, Andressa; Simões, Marlise S M; Blay, Gabriela; Lotito, Ana Paola N; Silva, Clovis A

    2015-03-04

    We described herein a patient who presented an overlap syndrome of childhood-onset systemic polyarteritis nodosa (c-PAN) and childhood-onset systemic lupus erythematosus (c-SLE). A 9-year-old girl presented tender subcutaneous nodules on feet, arterial hypertension, right hemiplegia and dysarthric speech. She was hospitalized due to stroke and left foot drop. Brain computer tomography showed ischemic stroke. Magnetic resonance angiography revealed stenosis in the middle cerebral and internal carotid arteries. Electroneuromyography identified a mononeuropathy of left posterior tibial nerve and she fulfilled the c-PAN validated criteria. She was treated with intravenous methylprednisolone pulse therapy followed by prednisone, that was progressively tapered, six months of intravenous cyclophosphamide and after that she received azathioprine for 19 months. At the age of 14 years and 9 months, she presented malar rash, photosensitivity, edema in lower limbs and arterial hypertension. The proteinuria was 1.7g/day. Antinuclear antibodies (ANA) were 1/1280 (homogeneous nuclear pattern) and anti-dsDNA antibodies were positive. Renal biopsy showed focal proliferative and membranous glomerulonephritis. Therefore, she fulfilled the American College of Rheumatology classification criteria for SLE and she was treated with prednisone, hydroxychloroquine and mycophenolate mofetil. In conclusion, we described herein a possible overlap syndrome of two autoimmune diseases, where c-PAN occurred five years before the c-SLE diagnosis. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

  12. Sudden infant death syndrome (SIDS): characteristics of deaths since the fall in SIDS in the French region of Languedoc-Roussillon.

    PubMed

    Rouleau, C; Bongrand, A F; Pidoux, O; Roustan, E; Martrille, L; Picaud, J-C; Costes-Martineau, V; Cambonie, G

    2009-11-01

    The characteristics of sudden infant death syndrome (SIDS) in the French region of Languedoc-Roussillon from 2003-2008 were examined in a retrospective study of two groups classified as unexplained sudden unexpected death in infancy (SUDI) (SIDS, n = 27) or explained SUDI (n = 22). The interval between the time the baby was last observed alive (time of last feed) and the discovery of death was evaluated. In SIDS, 67% (18/27) of deaths were discovered during the day (09:00-21:00 h) mostly within 4 h after feeding (66%). In explained SUDI, 68.2% of deaths were discovered at night and time intervals between the last feed and discovery of death were longer (mean 7.1 h, p<0.01). Most SIDS deaths were discovered during the day and explained SUDI discovered at night. Variations in time between the last feed and discovery of death in the two groups may result from differences in parental attentiveness during the day and at night.

  13. Impact of a standardized management protocol on mortality of children with diarrhoea: an update of risk factors for childhood death.

    PubMed

    Durley, Alison; Shenoy, Akhil; Faruque, A S G; Suskind, Robert; Ahmed, Tahmeed

    2004-10-01

    In the developing world, diarrhoeal disease is a significant cause of childhood morbidity especially amongst severely malnourished children. As a direct result of improved acute-phase management of this group of patients, there has been a 47 per cent reduction in the death rate among severely malnourished children hospitalized at the ICDDR,B in Bangladesh. The change in the risk factors for death among children aged under 5 years presenting with diarrhoea was reassessed. The charts of 366 children under 5 years of age who were hospitalized for diarrhoeal disease in the year 1998 were retrospectively analysed. One hundred and eighty-three of these patients died and 183 of those who survived acted as controls. Univariate analysis found 12 significant risk factors on admission that impacted outcome. Only two factors, female sex and positive blood culture, remained significant in the multivariate analysis with odds ratios (95 per cent CI) of 2.05 (1.1-4.0) and 4.6 (1.7-12.4), respectively. Prior to the change in the protocol involving the management of severely malnourished children, only severe malnutrition and non-breastfeeding were found to be significant predictors of mortality.

  14. Obesity-Hypoventilation Syndrome: Increased Risk of Death over Sleep Apnea Syndrome

    PubMed Central

    Castro-Añón, Olalla; Pérez de Llano, Luis A.; De la Fuente Sánchez, Sandra; Golpe, Rafael; Méndez Marote, Lidia; Castro-Castro, Julián; González Quintela, Arturo

    2015-01-01

    Aim To study whether mortality and cardiovascular morbidity differ in non-invasive ventilation (NIV)-treated patients with severe obesity-hypoventilation syndrome (OHS) as compared with CPAP-treated patients with obstructive sleep apnea syndrome (OSAS), and to identify independent predictors of mortality in OHS. Material and methods Two retrospective cohorts of OHS and OSAS were matched 1:2 according to sex, age (±10 year) and length of time since initiation of CPAP/NIV therapy (±6 months). Results Three hundred and thirty subjects (110 patients with OHS and 220 patients with OSAS) were studied. Mean follow-up time was 7±4 years. The five year mortality rates were 15.5% in OHS cohort and 4.5% in OSAS cohort (p< 0.05). Patients with OHS had a 2-fold increase (OR 2; 95% CI: 1.11–3.60) in the risk of mortality and 1.86 fold (OR 1.86; 95% CI: 1.14–3.04) increased risk of having a cardiovascular event. Diabetes, baseline diurnal SaO2 < 83%, EPAP < 7 cmH2O after titration and adherence to NIV < 4 hours independently predicted mortality in OHS. Conclusion Mortality of severe OHS is high and substantially worse than that of OSAS. Severe OHS should be considered a systemic disease that encompasses respiratory, metabolic and cardiovascular components that require a multimodal therapeutic approach. PMID:25671545

  15. Obesity-hypoventilation syndrome: increased risk of death over sleep apnea syndrome.

    PubMed

    Castro-Añón, Olalla; Pérez de Llano, Luis A; De la Fuente Sánchez, Sandra; Golpe, Rafael; Méndez Marote, Lidia; Castro-Castro, Julián; González Quintela, Arturo

    2015-01-01

    To study whether mortality and cardiovascular morbidity differ in non-invasive ventilation (NIV)-treated patients with severe obesity-hypoventilation syndrome (OHS) as compared with CPAP-treated patients with obstructive sleep apnea syndrome (OSAS), and to identify independent predictors of mortality in OHS. Two retrospective cohorts of OHS and OSAS were matched 1:2 according to sex, age (± 10 year) and length of time since initiation of CPAP/NIV therapy (± 6 months). Three hundred and thirty subjects (110 patients with OHS and 220 patients with OSAS) were studied. Mean follow-up time was 7 ± 4 years. The five year mortality rates were 15.5% in OHS cohort and 4.5% in OSAS cohort (p< 0.05). Patients with OHS had a 2-fold increase (OR 2; 95% CI: 1.11-3.60) in the risk of mortality and 1.86 fold (OR 1.86; 95% CI: 1.14-3.04) increased risk of having a cardiovascular event. Diabetes, baseline diurnal SaO2 < 83%, EPAP < 7 cmH2O after titration and adherence to NIV < 4 hours independently predicted mortality in OHS. Mortality of severe OHS is high and substantially worse than that of OSAS. Severe OHS should be considered a systemic disease that encompasses respiratory, metabolic and cardiovascular components that require a multimodal therapeutic approach.

  16. TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

    PubMed

    Kerstjens-Frederikse, Wilhelmina S; Bongers, Ernie M H F; Roofthooft, Marcus T R; Leter, Edward M; Douwes, J Menno; Van Dijk, Arie; Vonk-Noordegraaf, Anton; Dijk-Bos, Krista K; Hoefsloot, Lies H; Hoendermis, Elke S; Gille, Johan J P; Sikkema-Raddatz, Birgit; Hofstra, Robert M W; Berger, Rolf M F

    2013-08-01

    Childhood-onset pulmonary arterial hypertension (PAH) is rare and differs from adult-onset disease in clinical presentation, with often unexplained mental retardation and dysmorphic features (MR/DF). Mutations in the major PAH gene, BMPR2, were reported to cause PAH in only 10-16% of childhood-onset patients. We aimed to identify more genes associated with childhood-onset PAH. We studied 20 consecutive cases with idiopathic or heritable PAH. In patients with accompanying MR/DF (n=6) array-comparative genomic hybridisation analysis was performed, with the aim of finding common deletion regions containing candidate genes for PAH. Three patients had overlapping deletions of 17q23.2. TBX2 and TBX4 were selected from this area as candidate genes and sequenced in all 20 children. After identifying TBX4 mutations in these children, we subsequently sequenced TBX4 in a cohort of 49 adults with PAH. Because TBX4 mutations are known to cause small patella syndrome (SPS), all patients with newly detected TBX4 mutations were screened for features of SPS. We also screened a third cohort of 23 patients with SPS for PAH. TBX4 mutations (n=3) or TBX4-containing deletions (n=3) were detected in 6 out of 20 children with PAH (30%). All living patients and two parents with TBX4 mutations appeared to have previously unrecognised SPS. In the adult PAH-cohort, one TBX4 mutation (2%) was detected. Screening in the cohort of (predominantly adult) SPS patients revealed no PAH. These data indicate that TBX4 mutations are associated with childhood-onset PAH, but that the prevalence of PAH in adult TBX4 mutation carriers is low.

  17. Improper use of child restraint seats as a sleeping environment: Two cases of childhood death.

    PubMed

    Singhal, Ash; Adams, Elysia; Desapriya, Ediriweera

    2012-11-01

    A child restraint seat (CRS) is designed to keep infants safe inside motor vehicles while in motion. However, there have been a growing number of reports of injuries sustained as a result of CRS use outside the vehicle. These injuries commonly result from a fall from an elevated surface or an overturning of the CRS. The incidence of death from these events, however, is not well documented. The present report retrospectively analyzed the British Columbia Coroner Service Database to identify deaths involving CRS use outside the vehicle. Two such fatalities were identified. In both instances, infants had been placed in a CRS overnight and, in both cases, the CRS was found overturned, resulting in asphyxiation. The history and pathological findings of both cases are summarized.

  18. Risk of death by unnatural causes during early childhood in offspring of parents with mental illness.

    PubMed

    Chen, Yi-Hua; Chiou, Hung-Yi; Tang, Chao-Hsiun; Lin, Herng-Ching

    2010-02-01

    Limited evidence reveals an elevated mortality risk in offspring of psychiatric patients after infancy. This nationwide population-based study in Taiwan aimed to investigate mortality risk in preschool children up to age 5 whose parents have severe mental illness. Three nationwide population-based data sets were linked. A total of 3,166 children with one or both parents having schizophrenia or an affective disorder were identified, together with a comparison cohort of 25,328 children matched with the study group in terms of maternal age and year of delivery. Cox proportional hazard regressions were performed to compute hazard ratios, with adjustment for sociodemographic characteristics and maternal medical comorbidities. During the preschool years, 54 (1.7%) deaths were documented among offspring of parents with severe mental illness and 155 (0.6%) in the comparison cohort. Parental mental illness was independently associated with a risk of death nearly 2.4 times higher (95% CI=1.72-3.28) than in the comparison cohort. The association was even more marked for unnatural causes of death, in which the mortality risk was 8.35 times greater (95% CI=4.04-17.24) in children of affected parents than in the comparison cohort. The proportional mortality rates were as high as 20.4% and 11.1% for accident and homicide, respectively, among offspring exposed to parental mental illness. An elevated mortality risk, especially from unnatural causes of death, was identified for offspring of parents with severe mental illness during the preschool years in an Asian society. There is an urgent need for multidisciplinary team approaches and risk management strategies to support psychiatric patients who are having difficulty with the transition to parenthood.

  19. Altered gene expression and possible immunodeficiency in cases of sudden infant death syndrome.

    PubMed

    Ferrante, Linda; Rognum, Torleiv O; Vege, Åshild; Nygård, Ståle; Opdal, Siri H

    2016-07-01

    A large number of studies have tried to uncover a genetic predisposition for sudden infant death syndrome (SIDS), but there is still uncertainty concerning the pathogenesis of these deaths. The purpose of this study was to investigate mRNA gene expression in SIDS cases and controls, in order to uncover genes that are differentially expressed in the two groups. Tissue from brain, heart, and liver from 15 SIDS cases and 15 controls were included in the study, and mRNA expression was determined using the Illumina whole genome gene expression DASL HT assay. Seventeen genes showed significantly altered expression compared to controls, after correction for multiple testing. Three genes involved in the immune system were of particular interest, including the downregulation of MyD88 in tissue from SIDS brains, as well as the downregulation of the genes encoding CCL3 and UNC13 in the liver. These findings indicate that there is an altered expression of genes involved in the inflammatory process in a proportion of SIDS cases, which further strengthen the hypothesis that impaired immune response play a role in this syndrome.

  20. Sudden Infant Death Syndrome – Role of Trigeminocardiac Reflex: A Review

    PubMed Central

    Singh, Gyaninder Pal; Chowdhury, Tumul; Bindu, Barkha; Schaller, Bernhard

    2016-01-01

    Sudden infant death syndrome (SIDS) is an unexplained death in infants, which usually occurs during sleep. The cause of SIDS remains unknown and multifactorial. In this regard, the diving reflex (DR), a peripheral subtype of trigeminocardiac reflex (TCR), is also hypothesized as one of the possible mechanisms for this condition. The TCR is a well-established neurogenic reflex that manifests as bradycardia, hypotension, apnea, and gastric hypermotility. The TCR shares many similarities with the DR, which is a significant physiological adaptation to withstand hypoxia during apnea in many animal species including humans in clinical manifestation and mechanism of action. The DR is characterized by breath holding (apnea), bradycardia, and vasoconstriction, leading to increase in blood pressure. Several studies have described congenital anomalies of autonomic nervous system in the pathogenesis of SIDS such as hypoplasia, delayed neuronal maturation, or decreased neuronal density of arcuate nucleus, hypoplasia, and neuronal immaturity of the hypoglossal nucleus. The abnormalities of autonomic nervous system in SIDS may explain the role of TCR in this syndrome involving sympathetic and parasympathetic nervous system. We reviewed the available literature to identify the role of TCR in the etiopathogenesis of SIDS and the pathways and cellular mechanism involved in it. This synthesis will help to update our knowledge and improve our understanding about this mysterious, yet common condition and will open the door for further research in this field. PMID:27994573

  1. Epidemiology of childhood Guillain-Barré syndrome as a cause of acute flaccid paralysis in Honduras: 1989-1999.

    PubMed

    Molinero, Marco R; Varon, Daniel; Holden, Kenton R; Sladky, John T; Molina, Ida B; Cleaves, Francisco

    2003-11-01

    The objective of this study was to investigate the incidence of acute flaccid paralysis in the pediatric population of Honduras over an 11-year period, determine what percentage of acute flaccid paralysis was Guillain-Barré syndrome, and identify the epidemiologic features of Guillain-Barré syndrome. There were 546 childhood cases of acute flaccid paralysis seen between January 1989 and December 1999 at the Hospital Escuela Materno-Infantil in Tegucigalpa, Honduras. Of these cases with acute flaccid paralysis, 394 (72.2%) were diagnosed with Guillain-Barré syndrome. Our incidence of Guillain-Barré syndrome in the Honduran pediatric population (1.37/100,000 per year) is higher than that shown in other studies. There was a significantly higher incidence of Guillain-Barré syndrome in younger children (ages 1-4 years), a significant preponderance of cases from rural areas, and a mild predominance in boys but a typical clinical presentation. The Honduran pediatric Guillain-Barré syndrome population had an increased mortality rate. Guillain-Barré syndrome has become the leading cause of childhood paralysis in Honduras. A better understanding of the population at highest risk and opportunities for earlier intervention with more effective therapeutic modalities may permit reducing the mortality among Honduran children who develop Guillain-Barré syndrome.

  2. Recurrence rates for sudden infant death syndrome (SIDS): the importance of risk stratification.

    PubMed

    Campbell, M J; Hall, D; Stephenson, T; Bacon, C; Madan, J

    2008-11-01

    To investigate the importance of stratification by risk factors in computing the probability of a second death from sudden infant death syndrome (SIDS) in a family. Simulation study. The fact that a baby dies suddenly and unexpectedly means that there is a raised probability that the baby's family have risk factors associated with SIDS. Thus one cannot consider the risk of a subsequent death to be that of the general population. The Confidential Enquiry into Stillbirths and Deaths in Infancy (CESDI) identified three major social risk factors: smoking, age<27 and parity>1, and unemployed/unwaged as major risk factors. It gave estimates of risk for families with different numbers of these risk factors. We investigate whether it is reasonable to assume that, conditional on these risk factors, the risk of a second event is independent of the risk of the first and as a consequence one can square the risks to get the risk of two SIDS in a family. We have used CESDI data to estimate the probability of a second SID in a family under different plausible scenarios of the prevalence of the risk factors. We have applied the model to make predictions in the Care of Next Infant (CONI) study. The model gave plausible predictions. The CONI study observed 18 second SIDS. Our model predicted 14 deaths (95% prediction interval 7 to 21). When considering the risk of a subsequent SIDS in a family one should always take into account the known risk factors. If all risks have been identified, then conditional on these risks, the risk of two events is the product of the individual risks. However, for a given family we cannot quantify the magnitude of the increased risk because of other possible risk factors not accounted for in the model.

  3. Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

    PubMed

    Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M; Papatheodorou, Efstathios; Ware, James S; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R; Crawford, Jackie; Love, Donald R; Pua, Chee J; Soh, Bee Y; Bhalshankar, Jaydutt D; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G; van der Werf, Christian; Wijeyeratne, Yanushi D; Mellor, Greg; Till, Jan; Cohen, Marta C; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A M; Cook, Stuart A; Bezzina, Connie R; Sheppard, Mary N; Behr, Elijah R

    2017-05-02

    Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. The yield of combined molecular autopsy and clinical evaluation in 82 surviving families was evaluated. A gene-level rare variant association analysis was conducted in SADS cases versus controls. A clinically actionable pathogenic or likely pathogenic variant was identified in 40 of 302 cases (13%). The main etiologies established were catecholaminergic polymorphic ventricular tachycardia and long QT syndrome (17 [6%] and 11 [4%], respectively). Gene-based rare variants association analysis showed enrichment of rare predicted deleterious variants in RYR2 (p = 5 × 10(-5)). Combining molecular autopsy with clinical evaluation in surviving families increased diagnostic yield from 26% to 39%. Molecular autopsy for electrical disorder and cardiomyopathy genes, using ACMG guidelines for variant classification, identified a modest but realistic yield in SADS. Our data highlighted the predominant role of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome, especially the RYR2 gene, as well as the minimal yield from other genes. Furthermore, we showed the enhanced utility of combined clinical and genetic evaluation. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  4. Features of childhood Sjögren's syndrome in comparison to adult Sjögren's syndrome: considerations in establishing child-specific diagnostic criteria.

    PubMed

    Yokogawa, Naoto; Lieberman, Scott M; Sherry, David D; Vivino, Frederick B

    2016-01-01

    To describe the clinical features of childhood Sjögren's syndrome (SS) in comparison to adult SS and to evaluate possible child-specific modifications to existing adult criteria for use in diagnosing childhood SS. We retrospectively identified children (age <18 years) with SS and compared the clinical, laboratory, and histopathological features of these children based on presence or absence of parotitis. We compared these features to adults with SS and evaluated the applicability of existing classification criteria in diagnosing childhood SS. Child-specific modifications to existing criteria were evaluated. Twenty-six children were included in our childhood SS group. Sixteen children had parotitis at or before presentation. Absence of parotitis was associated with greater degree of organ damage based on SS disease damage index. Compared to 413 adult SS patients, childhood SS was more commonly associated with parotitis, positive serologies, neurologic and nephrologic manifestations, and non-specific features (fever, lymphadenopathy) but less commonly associated with dry mouth and dry eyes. Only a minority of these children met previously established criteria for adult SS. Inclusion of child-specific features such as parotitis and the presence of any focal lymphocytic sialadenitis on minor salivary gland biopsy increased the proportion of children meeting these criteria. Childhood SS features may be different than adult SS features necessitating child-specific criteria for better diagnosis of childhood SS, a key step towards better understanding the features, prognosis, and outcomes in this disease.

  5. Dummy (pacifier) use and sudden infant death syndrome: potential advantages and disadvantages.

    PubMed

    Horne, Rosemary S C; Hauck, Fern R; Moon, Rachel Y; L'hoir, Monique P; Blair, Peter S

    2014-03-01

    The large decline in deaths due to the sudden infant death syndrome (SIDS) in the last 20 years in many countries is largely due to risk-reduction advice resulting from observational studies that examined the relationship between infant care practices and SIDS. Most of this advice remains largely uncontroversial and educators and researchers in this field are in agreement as to the specific recommendations that should be given to parents and health professionals. However, advice surrounding the apparent protective effect of dummies (also known as pacifiers) has been controversial. Several systematic reviews have demonstrated a strong association between the lack of a pacifier being used by the infant for the final sleep and SIDS, but it is not clear how pacifiers confer protection or if this is a marker for something as yet unmeasured. The Epidemiology and Physiology Working Groups of the International Society for the Study and Prevention of Perinatal and Infant Death (ISPID) are comprised of leading SIDS researchers with an objective to provide evidence-based position statements surrounding the factors associated with SIDS (http://www.ispid.org/) and risk-reduction strategies. The evidence, discussion and conclusions from these working groups regarding dummies (pacifiers) are described below to help inform this debate and describe the future evidence required so that we might find a common recommendation about dummies (pacifiers) and SIDS. © 2014 The Authors. Journal of Paediatrics and Child Health © 2014 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  6. Medullary serotonin defects and respiratory dysfunction in sudden infant death syndrome.

    PubMed

    Paterson, David S; Hilaire, Gerard; Weese-Mayer, Debra E

    2009-08-31

    Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an infant less than 12 months of age that occurs during sleep and remains unexplained after a complete autopsy, death scene investigation, and review of the clinical history. It is the leading cause of postneonatal mortality in the developed world. The cause of SIDS is unknown, but is postulated to involve impairment of brainstem-mediated homeostatic control. Extensive evidence from animal studies indicates that serotonin (5-HT) neurons in the medulla oblongata play a role in the regulation of multiple aspects of respiratory and autonomic function. A subset of SIDS infants have several abnormalities in medullary markers of 5-HT function and genetic polymorphisms impacting the 5-HT system, informing the hypothesis that SIDS results from a defect in 5-HT brainstem-mediated control of respiratory (and autonomic) regulation. Here we review the evidence from postmortem human studies and animal studies to support this hypothesis and discuss how the pathogenesis of SIDS is likely to originate in utero during fetal development.

  7. Sudden Infant Death Syndrome in Korea: A Retrospective Analysis of Autopsy-Diagnosed Cases

    PubMed Central

    Yoo, Seong Ho; Kim, Angela Julie; Kang, Shin-Mong; Lee, Han Young; Seo, Joong-Seok; Kwon, Tae Jung

    2013-01-01

    This study aimed to elucidate the demographic and sleeping environmental factors associated with sudden infant death syndrome (SIDS) in Korea. The autopsy reports of all SIDS cases reported to the National Forensic Service and Seoul National University College of Medicine between 1996 and 2008 were reviewed for data collection and analysis to identify the risk factors for SIDS. Analysis of the 355 SIDS cases reported within the study period revealed that of the 168 (47.3%) cases for which sleeping position before death had been reported, 75 (44.7%) cases had occurred after placement in prone or side position. Of the 204 (57.5%) cases for which bed-sharing situation had been reported, 121 (59.3%) deaths had occurred during bed-sharing, of which 54 (44.6%) infants were under 3 months of age, a significantly younger age than that of the non-bed-sharing cases (P = 0.0279). Analysis of the results indicated no tendency toward an increase or decrease in the use of a prone or side position. Rather, there was a statistically significant increasing trend for bed-sharing over the study period (OR, 1.087; 95% CI, 1.004-1.177; P = 0.04). These findings indicate the need for nationwide educational programs promoting a safe sleeping environment to enhance SIDS prevention. PMID:23487503

  8. Sudden infant death syndrome: no significant expression of heat-shock proteins (HSP27, HSP70).

    PubMed

    Doberentz, Elke; Führing, Sarah; Madea, Burkhard

    2016-03-01

    In industrialized countries, sudden infant death is the most common cause of death in young children. Although prone sleeping position is a well-known risk factor, hyperthermia might also be important. Pathognomonic findings of premortem hyperthermia do not exist. During stress, including thermal effects, heat-shock protein (HSP) expression increases. This study investigated hyperthermia as a contributing or pathogenic factor for sudden infant death syndrome (SIDS). Immunohistochemical staining for HSP27 and HSP70 in the kidney, heart, and lung from 120 SIDS cases was examined. HSP70 immunostaining was negative in kidney, heart, and lung tissues in all cases and in tissues from the control group. HSP27 staining was positive in the kidney from one case, and was positive in the lungs (respiratory epithelia in 27% of cases; vascular endothelia in 19% of cases) and was negative in the heart. In the control group HSP27 was positive in 8% of renal tubular tissues and in 29% of renal vascular endothelia. Staining for HSP27 in lung tissues was positive in respiratory epithelia in 8% of cases and for vascular endothelia in 29%, whereas tissues from the heart were positive in only 4%. The hypothesis of hyperthermia being a pathogenic factor for SIDS was not supported by immunohistochemical visualization of HSP70 or HSP27.

  9. Sudden infant death syndrome in Korea: a retrospective analysis of autopsy-diagnosed cases.

    PubMed

    Yoo, Seong Ho; Kim, Angela Julie; Kang, Shin-Mong; Lee, Han Young; Seo, Joong-Seok; Kwon, Tae Jung; Yang, Kyung-Moo

    2013-03-01

    This study aimed to elucidate the demographic and sleeping environmental factors associated with sudden infant death syndrome (SIDS) in Korea. The autopsy reports of all SIDS cases reported to the National Forensic Service and Seoul National University College of Medicine between 1996 and 2008 were reviewed for data collection and analysis to identify the risk factors for SIDS. Analysis of the 355 SIDS cases reported within the study period revealed that of the 168 (47.3%) cases for which sleeping position before death had been reported, 75 (44.7%) cases had occurred after placement in prone or side position. Of the 204 (57.5%) cases for which bed-sharing situation had been reported, 121 (59.3%) deaths had occurred during bed-sharing, of which 54 (44.6%) infants were under 3 months of age, a significantly younger age than that of the non-bed-sharing cases (P = 0.0279). Analysis of the results indicated no tendency toward an increase or decrease in the use of a prone or side position. Rather, there was a statistically significant increasing trend for bed-sharing over the study period (OR, 1.087; 95% CI, 1.004-1.177; P = 0.04). These findings indicate the need for nationwide educational programs promoting a safe sleeping environment to enhance SIDS prevention.

  10. Sudden infant death syndrome: risk factors for infants found face down differ from other SIDS cases.

    PubMed

    Thompson, John M D; Thach, Bradley T; Becroft, David M O; Mitchell, Edwin A

    2006-11-01

    To test the hypothesis that infants with sudden infant death syndrome (SIDS) found face down (FD) would have SIDS risk factors different from those found in other positions (non-face-down position, NFD). We used the New Zealand Cot Death Study data, a 3-year, nationwide (1987 to 1990), case-control study. Odds ratios (univariate and multivariate) for FD (n = 154) and NFD SIDS (n = 239) were estimated separately, and statistical differences between the two groups were assessed. Of 12 risk factors for SIDS, there were 8 with a statistically significant difference between FD and NFD infants. After adjustment for the potential confounders, younger infant age, Maori ethnicity, low birth weight, prone sleep position, use of a sheepskin, and pillow use were all associated with a greater risk of SIDS in the FD than the NFD group. Sleeping during the nighttime, maternal smoking, and bed-sharing were associated with a risk of SIDS only in the NFD group. Pacifier use was associated with a decreased risk for SIDS only in the NFD group, whereas being found with the head covered was associated with a decreased risk for SIDS for the FD group. Infants with SIDS in the FD position appear to be a distinct subgroup of SIDS. These differences in risk factors provide clues to mechanisms of death in both SIDS subtypes.

  11. Medullary Serotonin Defects and Respiratory Dysfunction in Sudden Infant Death Syndrome

    PubMed Central

    Paterson, David S; Hilaire, Gerard; Weese-Mayer, Debra E

    2009-01-01

    Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an infant less than 12 months of age that occurs during sleep and remains unexplained after a complete autopsy, death scene investigation, and review of the clinical history. It is the leading cause of postneonatal mortality in the developed world. The cause of SIDS is unknown, but is postulated to involve impairment of brainstem-mediated homeostatic control. Extensive evidence from animal studies indicates that serotonin (5-HT) neurons in the medulla oblongata play a role in the regulation of multiple aspects of respiratory and autonomic function. A subset of SIDS infants have several abnormalities in medullary markers of 5-HT function and genetic polymorphisms impacting the 5-HT system, informing the hypothesis that SIDS results from a defect in 5-HT brainstem-mediated control of respiratory (and autonomic) regulation. Here we review the evidence from postmortem human studies and animal studies to support this hypothesis and discuss how the pathogenesis of SIDS is likely to originate in utero during fetal development. PMID:19481178

  12. Extending Prednisolone Treatment Does Not Reduce Relapses in Childhood Nephrotic Syndrome

    PubMed Central

    Kist-van Holthe, Joana E.; van Rijswijk, Nienske; de Mos, Nienke I.; Hop, Wim C.J.; Wetzels, Jack F.M.; van der Heijden, Albert J.; Nauta, Jeroen

    2012-01-01

    Prolonged prednisolone treatment for the initial episode of childhood nephrotic syndrome may reduce relapse rate, but whether this results from the increased duration of treatment or a higher cumulative dose remains unclear. We conducted a randomized, double-blind, placebo-controlled trial in 69 hospitals in The Netherlands. We randomly assigned 150 children (9 months to 17 years) presenting with nephrotic syndrome to either 3 months of prednisolone followed by 3 months of placebo (n=74) or 6 months of prednisolone (n=76), and median follow-up was 47 months. Both groups received equal cumulative doses of prednisolone (approximately 3360 mg/m2). Among the 126 children who started trial medication, relapses occurred in 48 (77%) of 62 patients who received 3 months of prednisolone and 51 (80%) of 64 patients who received 6 months of prednisolone. Frequent relapses, according to international criteria, occurred with similar frequency between groups as well (45% versus 50%). In addition, there were no statistically significant differences between groups with respect to the eventual initiation of prednisolone maintenance and/or other immunosuppressive therapy (50% versus 59%), steroid dependence, or adverse effects. In conclusion, in this trial, extending initial prednisolone treatment from 3 to 6 months without increasing cumulative dose did not benefit clinical outcome in children with nephrotic syndrome. Previous findings indicating that prolonged treatment regimens reduce relapses most likely resulted from increased cumulative dose rather than the treatment duration. PMID:23274956

  13. Cot Deaths.

    ERIC Educational Resources Information Center

    Tyrrell, Shelagh

    1985-01-01

    Addresses the tragedy of crib deaths, giving particular attention to causes, prevention, and medical research on Sudden Infant Death Syndrome (SIDS). Gives anecdotal accounts of coping strategies used by parents and families of SIDS infants. (DT)

  14. Cot Deaths.

    ERIC Educational Resources Information Center

    Tyrrell, Shelagh

    1985-01-01

    Addresses the tragedy of crib deaths, giving particular attention to causes, prevention, and medical research on Sudden Infant Death Syndrome (SIDS). Gives anecdotal accounts of coping strategies used by parents and families of SIDS infants. (DT)

  15. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness.

    PubMed

    Ahmad, Afzal; D'Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M; D'Souza, Vivian; Poornima, A M; Kamath, Nutan

    2016-10-01

    Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.

  16. The Effect of Increased Mineral Levels in the Feed on Leg Weakness and Sudden Death Syndrome in Broiler Chickens

    PubMed Central

    Julian, Richard J.

    1986-01-01

    In two experiments with 98,000 and 40,000 broilers on commercial broiler farms, half of each flock were fed starter, grower and finisher diets with 0.2% added calcium, 0.2% added phosphorus and 0.2% added magnesium. This ration had no significant effect on the incidence of sudden death syndrome but the incidence of leg weakness in broilers on the increased mineral ration was higher in both flocks. Approximately 28% of the mortality in both flocks was from sudden death syndrome, more than from any other condition. Approximately 20% of the mortality was associated with leg weakness. PMID:17422644

  17. Maternal alcohol use and sudden infant death syndrome and infant mortality excluding SIDS.

    PubMed

    O'Leary, Colleen M; Jacoby, Peter J; Bartu, Anne; D'Antoine, Heather; Bower, Carol

    2013-03-01

    Improvements in the rate of infant mortality (death in first year of life) have not occurred in recent years. This study investigates the association between maternal alcohol-use disorder and sudden infant death syndrome (SIDS) and infant mortality not classified as SIDS using linked, population-based health and mortality data. Exposed mothers were identified through the presence of an International Classification of Diseases 9/10 alcohol diagnosis, a proxy for alcohol-use disorder, recorded on health, mental health, and/or drug and alcohol datasets (1983-2005). Comparison mothers without an alcohol diagnosis were frequency matched to exposed mothers on maternal age within maternal race and year of birth of their children. All offspring with their birth recorded on the Midwives Notification System compose the exposed (n = 21 841) and comparison (n = 56 054) cohorts. Cases of SIDS (n = 303) and infant mortality excluding SIDS (n = 598) were identified through linkage with the Western Australian Mortality Register. Analyses were conducted by using Cox regression and results presented as adjusted hazard ratios (aHRs) and 95% confidence intervals (CIs). The highest risk of SIDS occurred when a maternal alcohol diagnosis was recorded during pregnancy (aHR 6.92, 95% CI 4.02-11.90) or within 1 year postpregnancy (aHR 8.61, 95% CI 5.04-14.69). An alcohol diagnosis recorded during pregnancy more than doubled the risk of infant deaths (excluding SIDS) (aHR 2.35, 95% CI 1.45-3.83). Maternal alcohol-use disorder is attributable for at least 16.41% (95% CI 9.73%-23.69%) of SIDS and 3.40% (95% CI 2.28%-4.67%) of infant deaths not classified as SIDS. Maternal alcohol-use disorder is a significant risk factor for SIDS and infant mortality excluding SIDS.

  18. Treatment-related deaths in second complete remission in childhood acute myeloid leukaemia.

    PubMed

    Molgaard-Hansen, Lene; Möttönen, Merja; Glosli, Heidi; Jónmundsson, Guðmundur K; Abrahamsson, Jonas; Hasle, Henrik

    2011-03-01

    The frequency and causes of treatment-related deaths (TRD) in second complete remission (CR2) in acute myeloid leukaemia (AML) were investigated in a historical, prospective cohort study of 429 children included in the Nordic Society of Paediatric Haematology and Oncology (NOPHO)-AML-88 and -93 trials. Relapse occurred in 158 children (39%). Seventeen (18%) of the 96 patients entering CR2 suffered TRD. The main causes were infection (59%) and complications from graft-versus-host disease (22%). Fourteen (82%) of 17 TRDs occurred in children undergoing haematopoietic stem cell transplantations (HSCT). Optimal supportive care after HSCT is essential, and studies on risk factors for TRD are needed. © 2011 Blackwell Publishing Ltd.

  19. Experience with multiple stent implantations in primary antiphospholipid syndrome in childhood: a case report.

    PubMed

    Bakkaloglu, S A; Keefer, M S; Schroeder, S; Stanley, P; Harrell, D S; Reiff, A

    2009-01-01

    The antiphospholipid syndrome (APS) is an autoimmune condition characterized by the persisting presence of antiphospholipid antibodies in association with thrombosis and/or pregnancy morbidity. Primary APS is quite rare in childhood and exact prevalence is not known. However, substantial proportion of thrombotic events in children is being attributed to APS. We herein present a 9-year-old boy presented with impending pericardial tamponade and large pleural effusions likely secondary to transudation of fluid from his gradually developed collateral circulation which was resulted from almost completely occluded vena caval system due to primary APS. He was treated with multiple angioplasty-stenting which offered symptomatic relief and better quality of life. To our knowledge, this is the first reported paediatric case of primary APS presented with extensive occlusive lesions in both caval systems and treated with repeated endovascular stent placements.

  20. [Care continuity for patients with Prader-Willi syndrome during transition from childhood to adulthood].

    PubMed

    Saitoh, Shinji

    2010-01-01

    Prader-Willi syndrome(PWS) is a complex multisystem genetic disorder, of which characteristic phenotypes include neonatal hypotonia, hyperphagia resulting in obesity, mental retardation, hypogonadism, and behavioral and psychiatric problems. The diagnosis can be obtained as early as during neonatal period thanks to development of genetic testing. Clinical features of PWS will change depending on age, although core phenotypes of hyperphagia, obesity and psychiatric issues stay for lifetime. Therefore, integrated multidisciplinary approach starting from neonatal period is mandatory to ensure optimal management to improve lifelong quality of life. For successful transition from childhood to adulthood, multidisciplinary team need to share clinical information, and should keep the same policy about food, environment and psychiatric issues.

  1. Unraveling the Enigma of Bangungut: Is Sudden Unexplained Nocturnal Death Syndrome (SUNDS) in the Philippines a Disease Allelic to the Brugada Syndrome?

    PubMed Central

    Gaw, Albert C.; Lee, Byron; Gervacio-Domingo, Giselle; Antzelevitch, Charles; Divinagracia, Romeo; Jocano, Felipe

    2012-01-01

    Background Sudden unexplained nocturnal death syndrome (SUNDS) has been reported worldwide. SUNDS is endemic in Southeast Asia and is colloquially known as Bangungut in the Philippines, Lai Tai in Thailand, and Pokkuri in Japan. Although SUNDS in Thailand and Japan have been determined to be phenotypically, genetically and functionally identical to the Brugada syndrome, the relationship between Bangungut/SUNDS in the Philippines and the Brugada syndrome has not been clarified. This paper explores the concordance between Bangungut/SUNDS and the Brugada syndrome. Methods We summarized autopsy studies on Bangungut retrieved from PubMed since 1917 and current epidemiological data on Philippine SUNDS to clarify its diagnostic features. We also reviewed current hypotheses of the pathophysiological mechanism of the Brugada syndrome to explore its applicability to Bangungut/SUNDS. Results The use of the term Bangungut is confusing as it includes many diseases that may cause SUNDS. However, our review reveals a notable subset of Bangungut, identified as Bangungut/SUNDS with no gross cardiac pathology that conforms to the clinical picture of the folk-belief of Bangungut and of the Brugada syndrome, namely: predominance among male in the 20-40 age range; sudden death during sleep or at rest, usually following ingestion of a large meal at night; and victims were in apparent good health prior to their demise. Current pathophysiological mechanisms of Brugada syndrome seemed plausible explanations for a majority of this subset of Bangungut/SUNDS. Conclusion Bangungut/SUNDS and the Brugada syndrome appear closely related. Pathophysiological mechanisms of the Brugada syndrome may explain the enigma of Bangungut/SUND. Whether Bangungut/SUNDS is phenotypically, genetically and functionally an allele of the Brugada syndrome remains inconclusive due to lack of research data. We therefore proposed a research agenda including genetic testing and pharmacological challenge of probands and

  2. Hippocampal malformation associated with sudden death in early childhood: a neuropathologic study: Part 2 of the investigations of The San Diego SUDC Research Project.

    PubMed

    Hefti, Marco M; Cryan, Jane B; Haas, Elisabeth A; Chadwick, Amy E; Crandall, Laura A; Trachtenberg, Felicia L; Armstrong, Dawna D; Grafe, Marjorie; Krous, Henry F; Kinney, Hannah C

    2016-03-01

    Sudden unexplained death in childhood (SUDC), while rare, accounts for an important fraction of unexpected deaths in children >1 year of age. Previously we reported an association between febrile seizures, hippocampal maldevelopment, and sudden, unexpected deaths in young children (1-6 years), termed "hippocampal maldevelopment associated with sudden death (HMASD)." Here, we characterize in greater detail the hippocampal pathology in a large cohort of cases (n = 42) of this entity, and attempt to define possible new entities responsible for sudden, unexplained death in young children without HMASD/febrile seizure phenotypes. We performed comparative analysis on cases, which we classified in a cohort of 89 sudden and unexpected deaths as HMASD, explained deaths, SUDC with febrile seizure phenotype (SUDC-FS) but without hippocampal pathology, and SUDC (without hippocampal pathology or febrile seizure phenotype). The frequency of each subgroup was: HMASD 48% (40/83); SUDC 27% (22/83); SUDC-FS 18% (15/83); explained 7% (6/83). HMASD was characterized clinically by sudden, sleep-related death, term birth, and discovery in the prone position. Key morphologic features of HMASD were focal granule cell bilamination of the dentate gyrus with or without asymmetry and/or malrotation of the hippocampus, associated with significantly increased frequencies of 11 other developmental abnormalities. We identified no other distinct phenotype in the unexplained categories, except for an association of febrile seizures without hippocampal maldevelopment. HMASD is a distinct clinicopathologic entity characterized by a likely developmental failure of neuronal migration in the dentate gyrus. Future research is needed to determine the causal role of HMASD in sudden death in early childhood.

  3. A Pro-Inflammatory Role for Nuclear Factor Kappa B in Childhood Obstructive Sleep Apnea Syndrome

    PubMed Central

    Israel, Lee P.; Benharoch, Daniel; Gopas, Jacob; Goldbart, Aviv D.

    2013-01-01

    Study Objectives: Childhood obstructive sleep apnea syndrome (OSAS) is associated with an elevation of inflammatory markers such as C-reactive protein (CRP) that correlates with specific morbidities and subsides following intervention. In adults, OSAS is associated with activation of the transcription factor nuclear factor kappa B (NF-kB). We explored the mechanisms underlying NF-kB activation, based on the hypothesis that specific NF-kB signaling is activated in children with OSAS. Design: Adenoid and tonsillar tissues from children with OSAS and matched controls were immunostained against NF-kB classical (p65 and p50) and alternative (RelB and p52) pathway subunits, and NF-kB-dependent cytokines: interleukin (IL)- 1α, IL-1β, tumor necrosis factor-α, and IL-8). Serum CRP levels were measured in all subjects. NF-kB induction was evaluated by a luciferase-NF-kB reporter assay in L428 cells constitutively expressing NF-kB and in Jurkat cells with inducible NF-kB expression. p65 translocation to the nucleus, reflecting NF-kB activation, was measured in cells expressing fluorescent NF-kB-p65-GFP (green fluorescent protein). Setting: Sleep research laboratory. Patients or Participants: Twenty-five children with OSAS and 24 without OSAS. Interventions: N/A. Measurements and Results: Higher expression of IL-1α and classical NF-kB subunits p65 and p50 was observed in adenoids and tonsils of children with OSAS. Patient serum induced NF-kB activity, as measured by a luciferase-NF-kB reporter assay and by induction of p65 nuclear translocation in cells permanently transfected with GFP-p65 plasmid. IL-1β showed increased epithelial expression in OSAS tissues. Conclusions: Nuclear factor kappa B is locally and systemically activated in children with obstructive sleep apnea syndrome. This observation may motivate the search for new anti-inflammatory strategies for controlling nuclear factor kappa B activation in obstructive sleep apnea syndrome. Citation: Israel LP

  4. [Importance of breastfeeding in the prevalence of metabolic syndrome and degree of childhood obesity].

    PubMed

    de Armas, María Guadalupe Guijarro; Megías, Susana Monereo; Modino, Soralla Civantos; Bolaños, Paloma Iglesias; Guardiola, Patricia Díaz; Alvarez, Teresa Montoya

    2009-10-01

    To evaluate the relationship between breastfeeding and the prevalence of obesity and metabolic syndrome in a group of obese children and adolescents. We performed a retrospective study in obese children and adolescents treated at the Endocrinology and Nutrition Service of the Hospital de Getafe (Madrid). The variables studied were age, sex, height, weight, body mass index (BMI), waist circumference, waist-height ratio, blood pressure, triglycerides, high-density lipoprotein and fasting glucose. Information was also collected on food received in the first months of life. Breastfeeding was defined as feeding with maternal milk for at least 3 months. The SPSS v.15 statistical package was used. A total of 126 patients with obesity were recruited (71 boys and 55 girls) with a mean age of 11.94 +/- 3.12 years. Of these, 117 (92.86%) were morbidly obese (BMI > 97th percentile for age and sex). All patients had a waist circumference > 90th percentile for age and sex. Of the 126 patients evaluated, 36.8% were breastfed for more than 3 months and 63.2% were fed with artificial milk only. Compared with patients fed with artificial milk, those who were breast fed had a lower BMI (31.53 +/- 5.77 vs 32.08 +/- 6.78) and lower waist circumference (95.02 +/- 3.4 vs. 95.69 +/- 3.2 cm), although this difference was not statistically significant. The prevalence of metabolic syndrome in the study population was 19.8%. Within this group, 64% had not been breast fed compared with 36% who had been fed with artificial milk. Breast feeding for at least 3 months was associated with lower levels of obesity, smaller waist circumference and fewer complications related to metabolic syndrome in childhood and adolescence. Sixty-four percent of children with complete metabolic syndrome had received artificial feeding. Further studies are needed to ascertain the impact of breastfeeding on the development of obesity and cardiometabolic risk.

  5. Acute necrotising encephalopathy of childhood: a new syndrome presenting with multifocal, symmetric brain lesions.

    PubMed Central

    Mizuguchi, M; Abe, J; Mikkaichi, K; Noma, S; Yoshida, K; Yamanaka, T; Kamoshita, S

    1995-01-01

    The clinicopathological features of a previously unrecognised type of acute encephalopathy prevalent among Japanese children is described by reviewing the records of 13 consecutive patients treated and 28 previously reported cases. The hallmark of this encephalopathy, proposed to be a novel entity termed acute necrotising encephalopathy of childhood, is multiple, necrotic brain lesions showing a symmetric distribution. The encephalopathy was noted in previously healthy children after respiratory tract infections, with presenting symptoms of coma, convulsions, vomiting, hyperpyrexia, and hepatomegaly. Laboratory examinations disclosed liver dysfunction, uraemia, and hypoproteinaemia. The histological appearance of the liver was variable and non-specific. Cerebrospinal fluid contained an increased amount of protein. Computed tomography and MRI showed the presence of symmetrically distributed brain lesions of the thalamus, cerebral white matter, brainstem, and cerebellum. Necropsy examination confirmed extensive fresh necrosis of these regions with evidence of local breakdown of the blood-brain barrier. Based on the characteristic combination of clinical and pathological findings, acute necrotising encephalopathy of childhood can be distinguished from previously known encephalopathies, including Reye's syndrome. Images PMID:7745402

  6. Increasing prevalence of smoke-free homes and decreasing rates of sudden infant death syndrome in the United States: an ecological association study.

    PubMed

    Behm, Ilan; Kabir, Zubair; Connolly, Gregory N; Alpert, Hillel R

    2012-01-01

    This study utilises an ecological design to analyse the relation between concurrent temporal trends in sudden infant death syndrome (SIDS) rates and prevalence of smoke-free households with infants in the USA, controlling for an important risk factor, infant supine sleep position. Annual state-specific SIDS cases were computed using period linked birth/infant death files; the prevalence of 100% smoke-free homes with infants using Tobacco Use Supplement to the Current Population Survey data, and percentage of infants in supine sleep position from National Infant Sleep Position data, for years 1995-2006. Incidence rate ratios relating trends in SIDS cases and risk factors were determined using time-series negative binomial regression. Population-level health effects were assessed with secondhand smoke (SHS) exposure population attributable fractions and excess attributable SIDS deaths. For every 1% absolute increase in the prevalence of smoke-free homes with infants, SIDS rates decreased 0.4% from 1995 to 2006, controlling for supine sleep position. Nationally, it is possible that 20% of the 1326 total SIDS cases were attributable to childhood SHS exposure at home in 2006 with potentially 534 fewer infant deaths attributable to SHS exposure in 2006 than in 1995, owing to an increasing prevalence of 100% smoke-free homes with infants. Cumulatively, 4402 (lower 95% CI) to 6406 (upper 95% CI) excess SIDS cases may have been attributable to SHS exposure in the home over the 12-year study period. The uptake of voluntary restrictions on smoking inside the home may present a public health benefit for infants in their first year of life. In light of inherent ecological study design limitations, these results warrant further individual level research linking postnatal SHS exposure and SIDS.

  7. Meaning-making in the aftermath of sudden infant death syndrome.

    PubMed

    Krueger, Guenther

    2006-09-01

    The reconstruction of meaning in the aftermath of sudden infant death syndrome (SIDS) is part of the grieving process but has to date been poorly understood. Earlier theorists including Freud, Bowlby and Kübler-Ross provided a foundation for what occurs during this time using stage theories. More recent researchers, often using qualitative techniques, have provided a more complex and expanded view that enhances our knowledge of meaning reconstruction following infant loss. This overview of representative contemporary authors compares and contrasts them with the longstanding models that are being supplanted within the emerging field of thanatology. Understanding parental reactions within this new framework can help healthcare professionals in dealing with those affected by SIDS and provide a more empathic and sensitive approach to individual differences. Parents' own accounts of their post-SIDS experience are consistent with these newer theories. Comprehending how parents cope and reconstruct their lives is an important element in providing appropriate psychological support services.

  8. The gliocentric hypothesis of the pathophysiology of the sudden infant death syndrome (SIDS).

    PubMed

    Mitterauer, Bernhard J

    2011-04-01

    The hypothesis is based on glial-neuronal interactions in the cardio-respiratory centre of the brainstem. Recently, it has been experimentally verified that glial cells, especially astrocytes, exert a modulatory function in the maintenance of homeostasis in this brain region. In addition, astrocytes may also control the rhythms of heartbeat and breathing in a pulsatile manner. Based on a model of the glial-neuronal-vascular interactions in the networks of the cardio-respiratory centre in the brainstem, possible impairments of glial function that may be responsible for the sudden infant death syndrome (SIDS) are proposed. Finally, general approaches for testing the hypothesis are outlined. Copyright © 2010 Elsevier Ltd. All rights reserved.

  9. Breastfeeding and dummy use have a protective effect on sudden infant death syndrome.

    PubMed

    Alm, Bernt; Wennergren, Göran; Möllborg, Per; Lagercrantz, Hugo

    2016-01-01

    We conducted a literature review on the effect of breastfeeding and dummy (pacifier) use on sudden infant death syndrome (SIDS). From 4343 abstracts, we identified 35 relevant studies on breastfeeding and SIDS, 27 on dummy use and SIDS and 59 on dummy use versus breastfeeding. We found ample evidence that both breastfeeding and dummy use reduce the risk of SIDS. There has been a general reluctance to endorse dummy use in case it has a detrimental effect of breastfeeding. However, recent evidence suggests that dummy use might not be as harmful to breastfeeding as previously believed. ©2015 The Authors. Acta Paediatrica published by John Wiley & Sons Ltd on behalf of Foundation Acta Paediatrica.

  10. Guillain-Barré syndrome mimicking brain death pattern: a poorly reversible condition.

    PubMed

    Bernard, Violaine; Van Pesch, Vincent; Hantson, Philippe

    2010-03-01

    A 73-year-old man developed a fulminant form of Guillain-Barrd syndrome with abolition of brainstem reflexes. Antibodies to GQ1b were positive (1:180). The clinical findings mimicked a "brain death" pattern for a period of 12 days. In contrast, the EEG showed remaining cerebral electrical activity. Brainstem auditory evoked potentials, long-latency auditory potentials and flash-evoked visual potentials were normal. However, no peripheral and cortical somatosensory evoked potentials could be elicited. Accordingly, nerve conduction studies were indicative of motor and sensory axonal neuropathy. After 5 months, the patient had no apparent cognitive deficit but was still quadriplegic and dependent from the mechanical ventilation. He died on day 158 from nosocomial infection, without motor recovery. Other published cases with a similar admission pattern were reviewed. The prognosis is usually very poor; as most of the patients died or remained severely disabled.

  11. Near-Death Experiences in patients with locked-in syndrome: Not always a blissful journey.

    PubMed

    Charland-Verville, Vanessa; Lugo, Zulay; Jourdan, Jean-Pierre; Donneau, Anne-Françoise; Laureys, Steven

    2015-07-01

    Memories of Near-Death Experiences (NDEs) most often are recounted as emotionally positive events. At present, no satisfactory explanatory model exists to fully account for the rich phenomenology of NDEs following a severe acute brain injury. The particular population of patients with locked-in syndrome (LIS) provides a unique opportunity to study NDEs following infratentorial brain lesions. We here retrospectively characterized the content of NDEs in 8 patients with LIS caused by an acute brainstem lesion (i.e., "LIS NDEs") and 23 NDE experiencers after coma with supratentorial lesions (i.e., "classical NDEs"). Compared to "classical NDEs", "LIS NDEs" less frequently experienced a feeling of peacefulness or well-being. It could be hypothesized that NDEs containing less positive emotions might have a specific neuroanatomical substrate related to impaired pontine/paralimbic connectivity or alternatively might be related to the emotional distress caused by the presence of conscious awareness in a paralyzed body.

  12. Nurses' Knowledge and Adherence To Sudden Infant Death Syndrome Prevention Guidelines.

    PubMed

    Bartlow, Kendra L; Cartwright, Sara B; Shefferly, Erin K

    2016-01-01

    The American Academy of Pediatrics (AAP) defines standard guidelines for infant positioning and sleep environment to reduce the rate of sudden infant death syndrome (SIDS), but recent data on nurses' knowledge and adherence to these guidelines in hospital settings are limited. An observational, quantitative, and descriptive study was conducted on well-baby postpartum nurseries at two urban Washington, DC, hospitals. Sixty-six direct observations of infant position and crib environment were conducted, and a 17-question survey was administered to determine nurses' knowledge and practice regarding AAP SIDS prevention guidelines. Of observed sleeping conditions, 69.7% failed the guidelines for infant positioning, crib environment, or both, despite nurses' reporting knowledge of the AAP guidelines. Further research is needed to determine if the study's findings are consistent with hospitals elsewhere, and to better understand the disconnect between nurses' knowledge and behavior regarding SIDS prevention guidelines.

  13. Relationship of substance P and gliosis in medulla oblongata in neonatal sudden infant death syndrome.

    PubMed

    Obonai, T; Takashima, S; Becker, L E; Asanuma, M; Mizuta, R; Horie, H; Tanaka, J

    1996-10-01

    Substance P and glial fibrillary acidic protein (GFAP) immunohistochemistry was applied to the medulla of neonatal infants who died of sudden infant death syndrome (SIDS). A quantitative analysis of cells demonstrating immunoreactivity to GFAP and substance P in 15 neonatal SIDS cases revealed increased GFAP immunoreactivity in the reticular formation, the dorsal vagal nucleus, and the solitary nucleus and an increase in substance P immunoreactivity in the spinal trigeminal nucleus and the solitary nucleus as compared with that in age-matched controls. GFAP immunopositivity suggests astrogliosis which implies a pathologic insult to neurons in the area of astrogliosis. The failure of neurons in these sites to show enhanced substance P immunopositivity may indirectly indicate altered neurons. Further study of prenatal events may be of importance in clarifying the pathogenesis of neonatal SIDS.

  14. Changes in Risk Variables of Metabolic Syndrome Since Childhood in Pre-Diabetic and Type 2 Diabetic Subjects

    PubMed Central

    Nguyen, Quoc Manh; Srinivasan, Sathanur R.; Xu, Ji-Hua; Chen, Wei; Berenson, Gerald S.

    2008-01-01

    OBJECTIVE—That type 2 diabetes is associated with the metabolic syndrome is known. However, information is lacking regarding the long-term and adverse changes of metabolic syndrome variables in the development of type 2 diabetes from childhood to adulthood. RESEARCH DESIGN AND METHODS—Observations were examined, retrospectively, in a community-based cohort of normoglycemic (n = 1,838), pre-diabetic (n = 90), and type 2 diabetic (n = 60) subjects followed serially for cardiovascular risk factors during childhood (4–11 years), adolescence (12–18 years), and adulthood (19–44 years). RESULTS—Diabetic subjects versus normoglycemic subjects had significantly higher levels of subscapular skinfold, BMI, triglycerides, glucose, insulin, and homeostasis model assessment of insulin resistance and lower levels of HDL cholesterol beginning in childhood and higher levels of mean arterial pressure (MAP) in adolescence and adulthood. In a multivariate model including BMI, MAP, HDL cholesterol, LDL cholesterol, triglycerides, glucose, and insulin, adjusted for age, age2, race, sex, and race × sex interaction, adverse changes in glucose and LDL cholesterol were independently associated with pre-diabetic subjects, whereas adverse changes in BMI, glucose, and HDL cholesterol were associated with diabetic subjects. As young adults, pre-diabetic and diabetic groups displayed a significantly higher prevalence of obesity, hypertension, dyslipidemia, hyperinsulinemia, and metabolic syndrome. CONCLUSIONS—These findings indicate that adverse levels of risk variables of metabolic syndrome, adiposity, and measures of glucose homeostasis accelerating since childhood characterize the early natural history of type 2 diabetes and underscore the importance of early prevention and intervention on risk factors beginning in childhood. PMID:18628566

  15. Minority status and the risk of serious childhood injury and death.

    PubMed Central

    Hayes, John R.; Groner, Jonathan I.

    2005-01-01

    OBJECTIVE: Minority populations have an increased risk for trauma, but little is known about injury rates for minority children. This study compares the causes, rates and outcomes of traumatic injuries between minority and white children in a statewide population sample. METHODS: A cohort study of 5,973 children (age <16) receiving inpatient care for treatment of acute injuries at the pediatric trauma centers in Ohio from 1999--2001. Case records were analyzed for race, injury type, injury severity, length of stay and demographic information. Supplemental data sources included the 2000 U.S. census and Ohio Vital Statistics death certificates 1996--2001. MAIN OUTCOME MEASURES: Hospital admission rate, mortality rate, length of stay, rate of admission to rehabilitation service. RESULTS: African-American children, who composed the vast majority of the minority population sample, were 7.7 more times likely to sustain a burn or gunshot wound, seven times more likely to be struck by a car, six times more likely to be intentionally injured and over twice as likely to killed by an injury than white children. However, after adjusting for injury severity, they have the same mortality, hospital length of stay and referral rate to rehabilitation as white children. CONCLUSION: Trauma has a far greater impact on minority children than on white children. Research and development of injury prevention initiatives that specifically target minority children are urgently needed. Images Figure 1 Figure 2 Figure 3 Figure 4 PMID:15779500

  16. Minority status and the risk of serious childhood injury and death.

    PubMed

    Hayes, John R; Groner, Jonathan I

    2005-03-01

    Minority populations have an increased risk for trauma, but little is known about injury rates for minority children. This study compares the causes, rates and outcomes of traumatic injuries between minority and white children in a statewide population sample. A cohort study of 5,973 children (age <16) receiving inpatient care for treatment of acute injuries at the pediatric trauma centers in Ohio from 1999--2001. Case records were analyzed for race, injury type, injury severity, length of stay and demographic information. Supplemental data sources included the 2000 U.S. census and Ohio Vital Statistics death certificates 1996--2001. Hospital admission rate, mortality rate, length of stay, rate of admission to rehabilitation service. African-American children, who composed the vast majority of the minority population sample, were 7.7 more times likely to sustain a burn or gunshot wound, seven times more likely to be struck by a car, six times more likely to be intentionally injured and over twice as likely to killed by an injury than white children. However, after adjusting for injury severity, they have the same mortality, hospital length of stay and referral rate to rehabilitation as white children. Trauma has a far greater impact on minority children than on white children. Research and development of injury prevention initiatives that specifically target minority children are urgently needed.

  17. Swaddling and the Risk of Sudden Infant Death Syndrome: A Meta-analysis.

    PubMed

    Pease, Anna S; Fleming, Peter J; Hauck, Fern R; Moon, Rachel Y; Horne, Rosemary S C; L'Hoir, Monique P; Ponsonby, Anne-Louise; Blair, Peter S

    2016-06-01

    Swaddling is a traditional practice of wrapping infants to promote calming and sleep. Although the benefits and risks of swaddling in general have been studied, the practice in relation to sudden infant death syndrome remains unclear. The goal of this study was to conduct an individual-level meta-analysis of sudden infant death syndrome risk for infants swaddled for sleep. Additional data on sleeping position and age were provided by authors of included studies. Observational studies that measured swaddling for the last or reference sleep were included. Of 283 articles screened, 4 studies met the inclusion criteria. There was significant heterogeneity among studies (I(2) = 65.5%; P = .03), and a random effects model was therefore used for analysis. The overall age-adjusted pooled odds ratio (OR) for swaddling in all 4 studies was 1.58 (95% confidence interval [CI], 0.97-2.58). Removing the most recent study conducted in the United Kingdom reduced the heterogeneity (I(2) = 28.2%; P = .25) and provided a pooled OR (using a fixed effects model) of 1.38 (95% CI, 1.05-1.80). Swaddling risk varied according to position placed for sleep; the risk was highest for prone sleeping (OR, 12.99 [95% CI, 4.14-40.77]), followed by side sleeping (OR, 3.16 [95% CI, 2.08-4.81]) and supine sleeping (OR, 1.93 [95% CI, 1.27-2.93]). Limited evidence suggested swaddling risk increased with infant age and was associated with a twofold risk for infants aged >6 months. Heterogeneity among the few studies available, imprecise definitions of swaddling, and difficulties controlling for further known risks make interpretation difficult. Current advice to avoid front or side positions for sleep especially applies to infants who are swaddled. Consideration should be given to an age after which swaddling should be discouraged. Copyright © 2016 by the American Academy of Pediatrics.

  18. The rule of bigeminy revisited: analysis in sudden cardiac death syndrome.

    PubMed

    Lerma, Claudia; Lee, Chiu Fan; Glass, Leon; Goldberger, Ary L

    2007-01-01

    The rule of bigeminy is commonly explained by a reentrant mechanism. We hypothesize that in patients with prolonged ventricular repolarization, the rule of bigeminy may be caused by premature ventricular complexes (PVCs) due to early afterdepolarizations. We evaluated these ventricular arrhythmias over extended periods in patients with sudden cardiac death syndrome. The electrocardiographic (ECG) characteristics of 15 recordings from the PhysioNet Sudden Cardiac Death Holter Database were analyzed for the persistence of bigeminy, interaction between the underlying cardiac rhythm and the coupling interval, and influence of a prolonged initiating RR cycle on the self-perpetuation of the arrhythmias. Eight (53%) patients had classic torsade de pointes (TdP), 5 (33%) had other polymorphic ventricular tachycardia (VT), and 2 (13%) had monomorphic VT. Group A, which comprised 6 of the patients with TdP, had the following ECG tetrad: (1) frequent ventricular bigeminy (>5% of total ventricular arrhythmias), (2) long corrected QT interval (>0.5 second), (3) relatively fixed coupling interval, and (4) onset of bigeminy (n = 4) and TdP (n = 6) after a short-long RR sequence. Patients in group A had slower heart rates (mean RR = 1.12 +/- 0.26 vs 0.77 +/- 0.13 seconds, P < .01), longer QT intervals (corrected QT = 0.57 +/- 0.06 vs 0.45 +/- 0.06 second; P < .01) and more cases with prominent U waves (83% vs 33%, P < .05) than patients in group B (n = 9), composed of patients who had other types of VT, or TdP without frequent bigeminy. We identified a set of ECG characteristics that supports the notion that premature ventricular complexes during self-perpetuating ventricular bigeminy ("rule of bigeminy") in long QT syndromes may be due to early afterdepolarizations.

  19. Microglia modulate brainstem serotonergic expression following neonatal sustained hypoxia exposure: implications for sudden infant death syndrome.

    PubMed

    MacFarlane, P M; Mayer, C A; Litvin, D G

    2016-06-01

    Neonatal sustained hypoxia exposure modifies brainstem microglia and serotonin expression. The altered brainstem neurochemistry is associated with impaired ventilatory responses to acute hypoxia and mortality. The deleterious effects of sustained hypoxia exposure can be prevented by an inhibitor of activated microglia. These observations demonstrate a potential cause of the brainstem serotonin abnormalities thought to be involved in sudden infant death syndrome. We showed previously that the end of the second postnatal week (days P11-15) represents a period of development during which the respiratory neural control system exhibits a heightened vulnerability to sustained hypoxia (SH, 11% O2 , 5 days) exposure. In the current study, we investigated whether the vulnerability to SH during the same developmental time period is associated with changes in brainstem serotonin (5-HT) expression and whether it can be prevented by the microglia inhibitor minocycline. Using whole-body plethysmography, SH attenuated the acute (5 min) hypoxic ventilatory response (HVR) and caused a high incidence of mortality compared to normoxia rats. SH also increased microglia cell numbers and decreased 5-HT immunoreactivity in the nucleus of the solitary tract (nTS) and dorsal motor nucleus of the vagus (DMNV). The attenuated HVR, mortality, and changes in nTS and DMNV immunoreactivity was prevented by minocycline (25 mg kg(-1) /2 days during SH). These data demonstrate that the 5-HT abnormalities in distinct respiratory neural control regions can be initiated by prolonged hypoxia exposure and may be modulated by microglia activity. These observations share several commonalities with the risk factors thought to underlie the aetiology of sudden infant death syndrome, including: (1) a vulnerable neonate; (2) a critical period of development; (3) evidence of hypoxia; (4) brainstem gliosis (particularly the nTS and DMNV); and (5) 5-HT abnormalities. © 2015 The Authors. The Journal of

  20. Sudden infant death syndrome (SIDS) and polymorphisms in Monoamine oxidase A gene (MAOA): a revisit.

    PubMed

    Groß, Maximilian; Bajanowski, Thomas; Vennemann, Mechtild; Poetsch, Micaela

    2014-01-01

    Literature describes multiple possible links between genetic variations in the neuroadrenergic system and the occurrence of sudden infant death syndrome. The X-chromosomal Monoamine oxidase A (MAOA) is one of the genes with regulatory activity in the noradrenergic and serotonergic neuronal systems and a polymorphism of the promoter which affects the activity of this gene has been proclaimed to contribute significantly to the prevalence of sudden infant death syndrome (SIDS) in three studies from 2009, 2012 and 2013. However, these studies described different significant correlations regarding gender or age of children. Since several studies, suggesting associations between genetic variations and SIDS, were disproved by follow-up analysis, this study was conducted to take a closer look at the MAOA gene and its polymorphisms. The functional MAOA promoter length polymorphism was investigated in 261 SIDS cases and 93 control subjects. Moreover, the allele distribution of 12 coding and non-coding single nucleotide polymorphisms (SNPs) of the MAOA gene was examined in 285 SIDS cases and 93 controls by a minisequencing technique. In contrast to prior studies with fewer individuals, no significant correlations between the occurrence of SIDS and the frequency of allele variants of the promoter polymorphism could be demonstrated, even including the results from the abovementioned previous studies. Regarding the SNPs, three statistically significant associations were observed which had not been described before. This study clearly disproves interactions between MAOA promoter polymorphisms and SIDS, even if variations in single nucleotide polymorphisms of MAOA should be subjected to further analysis to clarify their impact on SIDS.

  1. Masked inherited primary arrhythmia syndromes in sudden cardiac death patients accompanied by coronary vasospasm

    PubMed Central

    Lee, Ki Hong; Park, Hyung Wook; Eun, Jeong Nam; Cho, Jeong Gwan; Yoon, Nam Sik; Kim, Mi Ran; Ku, Yo Han; Park, Hyukjin; Lee, Seung Hun; Kim, Jeong Han; Kim, Min Chul; Kim, Woo Jin; Kim, Hyun Kuk; Cho, Jae Yeong; Park, Keun-Ho; Sim, Doo Sun; Yoon, Hyun Ju; Kim, Kye Hun; Hong, Young Joon; Kim, Ju Han; Ahn, Youngkeun; Jeong, Myung Ho; Park, Jong Chun

    2017-01-01

    Background/Aims Coronary vasospasms are one of the important causes of sudden cardiac death (SCD). Provocation of coronary vasospasms can be useful, though some results may lead to false positives, with patients potentially experiencing recurrent SCD despite appropriate medical treatments. We hypothesized that it is not coronary vasospasms but inherited primary arrhythmia syndromes (IPAS) that underlie the development of SCD. Methods We analyzed 74 consecutive patients (3.8%) who survived out-of-hospital cardiac arrest among 1,986 patients who had angiographically proven coronary vasospasms. Electrical abnormalities were evaluated in serial follow-up electrocardiograms (ECGs) during and after the index event for a 3.9 years median follow-up. Major clinical events were defined as the composite of death and recurrent SCD events. Results Forty five patients (60.8%) displayed electrocardiographic abnormalities suggesting IPAS: Brugada type patterns in six (8.2%), arrhythmogenic right ventricular dysplasia patterns in three (4.1%), long QT syndrome pattern in one (2.2%), and early repolarization in 38 (51.4%). Patients having major clinical events showed more frequent Brugada type patterns, early repolarization, and more diffuse multivessel coronary vasospasms. Brugada type pattern ECGs (adjusted hazard ratio [HR], 4.22; 95% confidence interval [CI], 1.16 to 15.99; p = 0.034), and early repolarization (HR, 2.97; 95% CI, 1.09 to 8.10; p = 0.034) were ultimately associated with an increased risk of mortality. Conclusions Even though a number of aborted SCD survivors have coronary vasospasms, some also have IPAS, which has the potential to cause SCD. Therefore, meticulous evaluations and follow-ups for IPAS are required in those patients. PMID:28797161

  2. Masked inherited primary arrhythmia syndromes in sudden cardiac death patients accompanied by coronary vasospasm.

    PubMed

    Lee, Ki Hong; Park, Hyung Wook; Eun, Jeong Nam; Cho, Jeong Gwan; Yoon, Nam Sik; Kim, Mi Ran; Ku, Yo Han; Park, Hyukjin; Lee, Seung Hun; Kim, Jeong Han; Kim, Min Chul; Kim, Woo Jin; Kim, Hyun Kuk; Cho, Jae Yeong; Park, Keun-Ho; Sim, Doo Sun; Yoon, Hyun Ju; Kim, Kye Hun; Hong, Young Joon; Kim, Ju Han; Ahn, Youngkeun; Jeong, Myung Ho; Park, Jong Chun

    2017-09-01

    Coronary vasospasms are one of the important causes of sudden cardiac death (SCD). Provocation of coronary vasospasms can be useful, though some results may lead to false positives, with patients potentially experiencing recurrent SCD despite appropriate medical treatments. We hypothesized that it is not coronary vasospasms but inherited primary arrhythmia syndromes (IPAS) that underlie the development of SCD. We analyzed 74 consecutive patients (3.8%) who survived out-of-hospital cardiac arrest among 1,986 patients who had angiographically proven coronary vasospasms. Electrical abnormalities were evaluated in serial follow-up electrocardiograms (ECGs) during and after the index event for a 3.9 years median follow-up. Major clinical events were defined as the composite of death and recurrent SCD events. Forty five patients (60.8%) displayed electrocardiographic abnormalities suggesting IPAS: Brugada type patterns in six (8.2%), arrhythmogenic right ventricular dysplasia patterns in three (4.1%), long QT syndrome pattern in one (2.2%), and early repolarization in 38 (51.4%). Patients having major clinical events showed more frequent Brugada type patterns, early repolarization, and more diffuse multivessel coronary vasospasms. Brugada type pattern ECGs (adjusted hazard ratio [HR], 4.22; 95% confidence interval [CI], 1.16 to 15.99; p = 0.034), and early repolarization (HR, 2.97; 95% CI, 1.09 to 8.10; p = 0.034) were ultimately associated with an increased risk of mortality. Even though a number of aborted SCD survivors have coronary vasospasms, some also have IPAS, which has the potential to cause SCD. Therefore, meticulous evaluations and follow-ups for IPAS are required in those patients.

  3. A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form.

    PubMed

    Sanefuji, Masafumi; Torisu, Hiroyuki; Kira, Ryutaro; Yamashita, Hiroshi; Ejima, Kazuna; Shigeto, Hiroshi; Takada, Yui; Yoshida, Keiko; Hara, Toshiro

    2013-06-01

    Parainfectious or autoimmune striatal lesions have been repeatedly described in children. We report a 7-year-old girl with painful muscle spasms, leading to the diagnosis of childhood stiff-person syndrome (SPS). Striatal lesions were demonstrated by diffusion-weighted magnetic resonance imaging (MRI) and single-photon emission computed tomography but not by conventional MRI. Autoantibodies against glutamic acid decarboxylase (GAD) were absent. Steroid pulse therapy and high-dose intravenous immunoglobulin resolved all the symptoms with slight sequelae. Childhood SPS may be characterized by absent anti-GAD antibodies and a transient benign clinical course, and it may have a pathomechanism distinct from that in adult SPS.

  4. Temporal trends in sudden infant death syndrome in Canada from 1991 to 2005: contribution of changes in cause of death assignment practices and in maternal and infant characteristics

    PubMed Central

    Gilbert, Nicolas L; Fell, Deshayne B; Joseph, K S; Liu, Shiliang; León, Juan Andrés; Sauve, Reg

    2012-01-01

    Gilbert NL, Fell DB, Joseph KS, Liu S, León JA, Sauve R, for the Fetal and Infant Health Study Group of the Canadian Perinatal Surveillance System. Temporal trends in sudden infant death syndrome in Canada from 1991 to 2005: contribution of changes in cause of death assignment practices and in maternal and infant characteristics. Paediatric and Perinatal Epidemiology 2012; 26: 124–130. The rate of sudden infant death syndrome (SIDS) declined significantly in Canada and the US between the late 1980s and the early 2000s. In the US, this decline was shown to be due in part to a shift in diagnosis, as deaths from accidental suffocation and strangulation in bed and from other ill-defined and unspecified cause increased concurrently. This study was undertaken to determine whether there was such a shift in diagnosis from SIDS to other causes of death in Canada, and to quantify the true temporal decrease in SIDS. Cause-specific infant death rates were compared across three periods: 1991–95, 1996–2000 and 2001–05 using the Canadian linked livebirth-infant death file. The temporal decline in SIDS was estimated after adjustment for maternal and infant characteristics such as maternal age and small-for-gestational age using logistic regression. Deaths from SIDS decreased from 78.4 [95% confidence interval (CI) 73.4, 83.4] per 100 000 livebirths in 1991–95, to 48.5 [95% CI 44.3, 52.7] in 1996–2000 and to 34.6 [95% CI 31.0, 38.3] in 2001–05. Mortality rates from other ill-defined and unspecified causes and accidental suffocation and strangulation in bed remained stable. The temporal decline in SIDS between 1991–95 and 2001–05 did not change substantially after adjustment for maternal and infant factors. It is unlikely that the temporal decline of SIDS in Canada was due to changes in cause-of-death assignment practices or in maternal and infant characteristics. PMID:22324498

  5. The Khmer ‘Weak Heart’ Syndrome: Fear of Death from Palpitations

    PubMed Central

    Hinton, Devon; Hinton, Susan; Um, Khin; Chea, Audria; Sak, Sophia

    2009-01-01

    According to the Khmer conception, a person suffering ‘weak heart’ (khsaoy beh daung) has episodes of palpitations on slight provocation (e.g. triggered by orthostasis, anger, a noise, worry, an odor or exercise) and runs the risk of dying of heart arrest during these periods of palpitations; too, the sufferer typically has other symptoms attributed to the purported cardiac dysfunction: fatigue, shortness of breath, and orthostatic dizziness. Many Khmer refugees suffer this cultural syndrome, an anxious–dysphoria ontology, most probably of French colonial provenance. The syndrome demonstrates considerable overlap with those Western illness categories that feature panic attacks, in particular post-traumatic stress disorder (PTSD) and panic disorder. In a psychiatric clinic survey, 60 percent (60/100) of those assessed believed themselves to currently suffer ‘weak heart’; 90 percent (54/60) of those considering themselves to suffer from ‘weak heart’ thought that palpitations (e.g., those resulting from a loud noise or orthostasis) might result in death. The article illustrates the profoundly culturally constructed nature of ‘cardiac sensations,’ located in a specific historical trajectory and episteme; too, the article suggests that trauma may result more in panic disorder than ‘PTSD’ when autonomic arousal symptoms (in the present case, palpitations) are considered potentially life-threatening. PMID:20814562

  6. Association between a functional polymorphism in the MAOA gene and sudden infant death syndrome.

    PubMed

    Klintschar, Michael; Heimbold, Christian

    2012-03-01

    Abnormalities in the serotonergic as well as the noradrenergic neuronal systems are believed to contribute to sudden infant death syndrome (SIDS). The X-chromosomal monoamine oxidase A (MAOA) gene is of importance for both systems and up to now no systematic study on a functional polymorphism in this gene has been performed in a sufficiently large group. We investigated a functional MAOA promoter length polymorphism in 156 white SIDS cases and 260 gender- and age-matched control subjects by using capillary electrophoresis and fluorescence dye labeled primers. The pooled low-expressing alleles *2 and *3 were more frequent in the 99 male SIDS cases than in 161 male control subjects (44.4% vs 25.5%). However, there were no differences in female cases. The frequency of low expression alleles varied significantly with the age at death and were significantly more frequent in children who died between an age of 46 and 154 days than at an older age (54.9% vs 22.6%). Our results indicate a relationship between SIDS and the MAOA genotype in boys via influencing serotonergic and noradrenergic neurons in the brainstem. This locus is the first X-chromosomal locus associated with SIDS. Our results support the theory that abnormalities in the brainstem contribute to a subset of SIDS, at least in boys. Moreover, we argue that not only the serotonergic system but also other neuronal systems, among those the noradrenergic one, are involved.

  7. Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current

    PubMed Central

    Cheng, Jianding; Kyle, John W.; Wiedmeyer, Brandi; Lang, Di; Vaidyanathan, Ravi; Makielski, Jonathan C.

    2017-01-01

    Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM). In HEK293 cells with pH 7.4, VCL-M94I caused ~30% decrease in peak sodium current (INa) amplitude compared to WT; under acidotic conditions (pH 7.0) typically found with hypoxia during sleep apnea, M94I resulted in 37% reduction in peak INa compared to WT and the combination of VCL-M94I and pH 7.0 decreased peak INa by ~56% compared to WT at pH 7.4. In iPSCs-CM, similar effects of M94I on reduction of peak INa were observed. This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS. PMID:28218286

  8. Sudden infant death syndrome in Canada: trends in rates and risk factors, 1985-1998.

    PubMed

    Rusen, I D; Liu, Shiliang; Sauve, Reg; Joseph, K S; Kramer, Michael S

    2004-01-01

    In Canada, sudden infant death syndrome (SIDS) remains the leading cause of postneonatal death. However, SIDS rates have been declining in many countries, including Canada. This decline has been largely attributed to recommendations to avoid placing infants to sleep in the prone position. We examined the postneonatal rate of mortality due to SIDS and to other causes in relation to the initial risk reduction campaign. The postneonatal mortality rate due to SIDS decreased from 0.97 to 0.54 per 1,000 neonatal survivors between 1985-1989 and 1994-1998 (relative risk [RR] = 0.56, 95% confidence interval [CI] 0.51-0.62). The rate of postneonatal mortality due to other causes also decreased during the same period, though to a smaller extent, from 1.19 to 0.86 (RR = 0.72, 95% CI 0.66-0.78). With the exception of seasonality, established risk factors for SIDS remained essentially unchanged between the two time periods. The observed reduction in postneonatal SIDS is consistent with a positive impact of the initial recommendations regarding risk reduction. However, the lack of reliable risk factor data limits the extent to which the decline can be attributed directly to the campaign.

  9. Brainstem mechanisms underlying the sudden infant death syndrome: evidence from human pathologic studies.

    PubMed

    Kinney, Hannah C

    2009-04-01

    The brainstem hypothesis is one of the leading hypotheses concerning the sudden infant death syndrome (SIDS). It states that SIDS, or an important subset of SIDS, is due to abnormal brainstem mechanisms in the control of respiration, chemosensitivity, autonomic regulation, and/or arousal which impairs the infant's response to life-threatening, but often occurring, stressors during sleep (e.g., hypoxia, hypercarbia, asphyxia, hyperthermia) and leads to sudden death in a vulnerable developmental period. In this review, we summarize neuropathologic evidence from SIDS cases that support this hypothesis, beginning with the seminal report of subtle brainstem gliosis three decades ago. We focus upon recent neurochemical studies in our laboratory concerning the neurotransmitter serotonin (5-HT) and its key role in mediating protective responses to homeostatic stressors via medullary circuits. The possible fetal origin of brainstem defects in SIDS is reviewed, including evidence for adverse effects of prenatal exposure to maternal cigarette smoking and alcohol upon the postnatal development of human brainstem 5-HT pathways. (c) 2009 Wiley Periodicals, Inc.

  10. Serotonin metabolites in the cerebrospinal fluid in sudden infant death syndrome.

    PubMed

    Rognum, Ingvar J; Tran, Hoa; Haas, Elisabeth A; Hyland, Keith; Paterson, David S; Haynes, Robin L; Broadbelt, Kevin G; Harty, Brian J; Mena, Othon; Krous, Henry F; Kinney, Hannah C

    2014-02-01

    Forensic biomarkers are needed in sudden infant death syndrome (SIDS) to help identify this group among other sudden unexpected deaths in infancy. Previously, we reported multiple serotonergic (5-HT) abnormalities in nuclei of the medulla oblongata that help mediate protective responses to homeostatic stressors. As a first step toward their assessment as forensic biomarkers of medullary pathology, here we test the hypothesis that 5-HT-related measures are abnormal in the cerebrospinal fluid (CSF) of SIDS infants compared with those of autopsy controls. Levels of CSF 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA), the degradative products of 5-HT and dopamine, respectively, were measured by high-performance liquid chromatography in 52 SIDS and 29 non-SIDS autopsy cases. Tryptophan (Trp) and tyrosine (Tyr), the substrates of 5-HT and dopamine, respectively, were also measured. There were no significant differences in 5-HIAA, Trp, HVA, or Tyr levels between the SIDS and non-SIDS groups. These data preclude the use of 5-HIAA, HVA, Trp, or Tyr measurements as CSF autopsy biomarkers of 5-HT medullary pathology in infants who have died suddenly and unexpectedly. They do, however, provide important information about monoaminergic measurements in human CSF at autopsy and their developmental profile in infancy that is applicable to multiple pediatric disorders beyond SIDS.

  11. [Immunohistochemical investigations on pulmonary tissue in cases of sudden infant death syndrome (SIDS)].

    PubMed

    Doberentz, Elke; Albalooshi, Younis; Madea, Burkhard

    2016-01-01

    Numerous theories on the pathomechanism of SIDS favor a multifactorial genesis whereby infections of the upper respiratory tract and the pulmonary tissue have a trigger function. The aim of the presented study was to prove the presence of inflammatory responses in pulmonary tissue in SIDS cases because various studies revealed contradictory results about the evidence of inflammatory pulmonary responses in SIDS cases. For this purpose, 10 cases with defined causes of death were examined in comparison to 75 cases of sudden infant death syndrome (SIDS) with regard to CD45RO, CD68 and LCA positive cells in pulmonary tissue. Furthermore, the cell adhesion molecules E-selectin, P-selectin and VCAM were investigated. In the study group, the immunohistochemical imaging of CD45RO and LCA positive cells showed mostly negative results. There were no significant differences between study and control group as to the number of cells expressing CD45R0, CD68 and LCA. The same was true for the adhesion molecules E-selectin, P-selectin and VCAM.

  12. Genetic variation in the monoamine oxidase A and serotonin transporter genes in sudden infant death syndrome.

    PubMed

    Opdal, Siri H; Vege, Åshild; Rognum, Torleiv O

    2014-04-01

    The purpose of this study was to investigate common polymorphisms in the genes encoding monoamine oxidase A (MAOA) and serotonin transporter (5-HTT) in Norwegian cases of sudden infant death syndrome (SIDS). This was done to further elucidate the role of genetic variation in these genes and SIDS. A variable number of tandem repeat area in the promoter of the MAOA gene and rs25531 in the promoter region of the gene encoding 5-HTT were investigated in 193 SIDS cases and 335 controls. The methods used were polymerase chain reaction, restriction fragment analysis and gel electrophoresis. There were no differences between SIDS cases and controls for any of the investigated polymorphisms. This was also true when male and female SIDS cases were analysed separately. This article indicates that neither the VNTR in the promoter of the MAOA gene, nor rs25531 in the gene encoding 5-HTT, is involved in SIDS. However, as medullary serotonergic abnormalities most likely contribute to the death in at least some SIDS cases, it is important to investigate these genes, as well as other genes involved in the serotonergic network, in more detail. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  13. Developmental alterations of the auditory brainstem centers--pathogenetic implications in Sudden Infant Death Syndrome.

    PubMed

    Lavezzi, Anna M; Ottaviani, Giulia; Matturri, Luigi

    2015-10-15

    Sudden Infant Death Syndrome (SIDS), despite the success of campaigns to reduce its risks, is the leading cause of infant death in the Western world. Even though the pathogenesis remains unexplained, brainstem abnormalities of the neuronal network that mediates breathing and protective responses to asphyxia, particularly in the arousal phase from sleep, are believed to play a fundamental role. This is the first study to identify, in SIDS, developmental defects of specific brainstem centers involved in hearing pathways, particularly in the cochlear and vestibular nuclei, in the superior olivary complex and in the inferior colliculus, suggesting a possible influence of the acoustic system on respiratory activity. In 49 SIDS cases and 20 controls an in-depth anatomopathological examination of the autonomic nervous system was performed, with the main aim of detecting developmental alterations of brainstem structures controlling both the respiratory and auditory activities. Overall, a significantly higher incidence of cytoarchitectural alterations of both the auditory and respiratory network components were observed in SIDS victims compared with matched controls. Even if there is not sufficient evidence to presume that developmental defects of brainstem auditory structures can affect breathing, our findings, showing that developmental deficit in the control respiratory areas are frequently accompanied by alterations of auditory structures, highlight an additional important element for the understanding the pathogenetic mechanism of SIDS. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. The incidence of the sudden infant death syndrome in relation to climate

    NASA Astrophysics Data System (ADS)

    Deacon, E. L.; Williams, A. L.

    1982-09-01

    Incidences of the sudden infant death syndrome (SIDS) for eight metropolitan communities in U.S.A. are shown to correlate strongly with the mean percentages of cold-wet weather experienced by these places in the seven months centred on January. For white infants aged 4 51 weeks at death, the incidence varies from about one per thousand live births in the more favourable climates to around two per thousand under the less favourable conditions of northwest U.S.A. Incidences are higher for the nonwhite infants but exhibit a similar variation with climate. To be able to extend the study to other countries for which cold-wet weather percentages are not available, a surrogate cold-wet weather index is developed, based on mean cold-season temperature, insolation and number of days with precipitation. Australian and British SIDS incidences related to the surrogate cold-wet weather index exhibit a variation parallel to that for U.S.A. but somewhat higher over the whole range. The incidences used in this study are from the more extensive investigations in which diagnosis was made as a result of thorough postmortem examination.

  15. Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

    PubMed

    Cheng, Jianding; Kyle, John W; Wiedmeyer, Brandi; Lang, Di; Vaidyanathan, Ravi; Makielski, Jonathan C

    2017-02-20

    Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM). In HEK293 cells with pH 7.4, VCL-M94I caused ~30% decrease in peak sodium current (INa) amplitude compared to WT; under acidotic conditions (pH 7.0) typically found with hypoxia during sleep apnea, M94I resulted in 37% reduction in peak INa compared to WT and the combination of VCL-M94I and pH 7.0 decreased peak INa by ~56% compared to WT at pH 7.4. In iPSCs-CM, similar effects of M94I on reduction of peak INa were observed. This study initially shows both physical and functional interaction between VCL and cardiac sodium channel, and suggests an important role for respiratory acidosis in triggering the fatal arrhythmia underlying SUNDS.

  16. [Diagnosis, sudden death risk stratification, and treatment of main long QT syndrome molecular-genetic variants].

    PubMed

    Shkol'nikova, M A; Kharlap, M S; Il'darova, R A; Bereznitskaia, V V; Kalinin, L A

    2011-01-01

    Inherited long QT syndrome (LQTS) refers to the primary electrical diseases of the heart. It is characterized by QT prolongation on resting ECG and syncope due to life-threatening ventricular arrhythmias. This review focuses on diagnosis, differential diagnosis, risk stratification of sudden cardiac death, and treatment strategy of patients with most prevalent genetic fOrms of LQTS - LQT1, LQT2 and LQT3, which accounted for about 90% of all genetically confirmed cases. Recent advances in understanding of relationship between clinical, electrocardiographic features (on ECG, body surface mapping, stress test) and genetic variants of LQT presented. Characteristics of syncopal events and ECG features of LQTl, LQT2 and LQT3 in the majority of cases are helpful to make an appropriate choice for therapy, even before positive result of molecular genetic testing. Management has focused on the use of beta blockers as first-line treatment and exclusion of triggers of life-threatening arrhythmia which are specific for each molecular-genetic variant. Implantation of cardioverter defibrillator for secondary prevention of sudden death in the high-risk patients or patients with insufficient effect of antiarrhythmic therapy is required.

  17. Heat stress and sudden infant death syndrome incidence: a United States population epidemiologic study.

    PubMed

    Scheers-Masters, Joshua R; Schootman, Mario; Thach, Bradley T

    2004-06-01

    To determine the role of heat stress in sudden infant death syndrome (SIDS) by examining the SIDS rates during periods of extreme environmental temperatures in a period when most infants were placed prone for sleep. A retrospective study of SIDS rates and mortality rates attributable to excessive environmental heat in relationship to climatologic temperature was performed. Data were collected for each of 454 counties in 4 states (Arkansas, Georgia, Kansas, and Missouri) from May 1 to September 30, 1980, and were then summed to yield the mortality rates for each 5 degrees F (2.8 degrees C) temperature range. chi2 analyses revealed significant relationships for heat-related mortality rates and both the maximal daily temperature and mean daily temperature but demonstrated no such relationships for SIDS rates. No association between SIDS rates and heat-related mortality rates was found with Spearman's ranked correlation, for either the maximal daily temperature or the mean daily temperature. On the basis of our findings of no significant association between SIDS and either measure of temperature during periods of high heat stress-related death rates, it seems unlikely that the heat stress associated with the combination of prone sleep positions and elevated environmental temperatures has a significant role in the development of SIDS.

  18. Levamisole in steroid-sensitive nephrotic syndrome of childhood: the lost paradise?

    PubMed

    Davin, J C; Merkus, M P

    2005-01-01

    Among the different drugs used for sparing steroids in steroid-sensitive nephrotic syndrome (SSNS) with frequent relapses and steroid dependency, levamisole is the least toxic and the least expensive. However, it is neither approved for this indication nor widely used in Europe. This may be explained by the difficulty in obtaining levamisole in some countries and the lack of good quality evidence for its effectiveness. Evidence is limited to three clinical trials that all suffered from methodological limitations. Statistical synthesis of these trials showed that levamisole reduces the risk of a relapse during treatment (relative risk 0.60, 95% confidence interval 0.45-0.79). From the available information, no conclusions can be drawn on the steroid-sparing effect, the long-term efficacy, and safety, as well as possible differences in efficacy in different subgroups of SSNS patients. The confirmation of a favorable effect of levamisole on the reduction of the frequency of relapses and on sparing steroids in an adequately powered, double-blind, placebo-controlled, randomized, multi-center clinical trial will promote consensus on the place of levamisole in the treatment of SSNS of childhood. Follow-up should be at least 1 year to evaluate long-term efficacy and side effects. If the results of such a clinical trial confirm the beneficial effects of levamisole in nephrotic syndrome, this may allow registration for this indication and interest companies other than Jansen-Cilag, which only recently has decided to stop its production.

  19. Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome

    PubMed Central

    Raca, Gordana; Baas, Becky S; Kirmani, Salman; Laffin, Jennifer J; Jackson, Craig A; Strand, Edythe A; Jakielski, Kathy J; Shriberg, Lawrence D

    2013-01-01

    We report clinical findings that extend the phenotype of the ∼550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree (‘KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures. PMID:22909774

  20. Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

    PubMed

    Raca, Gordana; Baas, Becky S; Kirmani, Salman; Laffin, Jennifer J; Jackson, Craig A; Strand, Edythe A; Jakielski, Kathy J; Shriberg, Lawrence D

    2013-04-01

    We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task. Each of the two patients in the current report completed a 2-h assessment protocol that provided information on their cognitive, language, speech, oral mechanism, motor, and developmental histories and performance. Their histories and standard scores on perceptual and acoustic speech tasks met clinical and research criteria for CAS. Array comparative genomic hybridization analyses identified deletions at chromosome 16p11.2 in each patient. These are the first reported cases with well-characterized CAS in the 16p11.2 syndrome literature and the first report of this microdeletion in CAS genetics research. We discuss implications of findings for issues in both literatures.

  1. Risk factors for sudden infant death syndrome among northern plains Indians.

    PubMed

    Iyasu, Solomon; Randall, Leslie L; Welty, Thomas K; Hsia, Jason; Kinney, Hannah C; Mandell, Frederick; McClain, Mary; Randall, Brad; Habbe, Don; Wilson, Harry; Willinger, Marian

    2002-12-04

    Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality among American Indians, a group whose infant death rate is consistently above the US national average. To determine prenatal and postnatal risk factors for SIDS among American Indians. Population-based case-control study of 33 SIDS infants and 66 matched living controls among American Indians in South Dakota, North Dakota, Nebraska, and Iowa enrolled from December 1992 to November 1996 and investigated using standardized parental interview, medical record abstraction, autopsy protocol, and infant death review. Association of SIDS with maternal socioeconomic and behavioral factors, health care utilization, and infant care practices. The proportions of case and control infants who were usually placed prone to sleep (15.2% and 13.6%, respectively), who shared a bed with parents (59.4% and 55.4%), or whose mothers smoked during pregnancy (69.7% and 54.6%) were similar. However, mothers of 72.7% of case infants and 45.5% of control infants engaged in binge drinking during pregnancy. Conditional logistic regression revealed significant associations between SIDS and 2 or more layers of clothing on the infant (adjusted odds ratio [aOR], 6.2; 95% confidence interval [CI], 1.4-26.5), any visits by a public health nurse (aOR, 0.2; 95% CI, 0.1-0.8), periconceptional maternal alcohol use (aOR, 6.2; 95% CI, 1.6-23.3), and maternal first-trimester binge drinking (aOR, 8.2; 95% CI, 1.9-35.3). Public health nurse visits, maternal alcohol use during the periconceptional period and first trimester, and layers of clothing are important risk factors for SIDS among Northern Plains Indians. Strengthening public health nurse visiting programs and programs to reduce alcohol consumption among women of childbearing age could potentially reduce the high rate of SIDS.

  2. Cardiorenal Syndrome Type 5 in Sepsis: Role of Endotoxin in Cell Death Pathways and Inflammation.

    PubMed

    Virzì, Grazia Maria; Clementi, Anna; Brocca, Alessandra; de Cal, Massimo; Marcante, Stefano; Ronco, Claudio

    2016-01-01

    Cardiorenal Syndrome Type 5 (CRS Type 5) is characterized by concomitant cardiac and renal dysfunction in the setting of different systemic disorders, such as sepsis. In this study, we investigated the possible relationship between endotoxin levels, renal cell death and inflammation in septic patients with CRS Type 5. We enrolled 11 patients with CRS Type 5. CRS Type 5 was defined according to the current classification system. AKI was defined by Acute Kidney Injury Network (AKIN) criteria. Acute cardiac dysfunction was documented by echocardiography as acute left and/or right ventricular dysfunction leading to decreased ejection fraction. Endotoxin activity was measured by the Endotoxin Activity Assay (EAA). Plasma from CRS Type 5 patients was incubated with renal tubular cells (RTCs) and cell death levels were evaluated. Plasma cytokines levels were measured as well. Accordingly to EAA levels, patients were divided into two groups: 45.4% of patients had low endotoxin activity level (negative EAA), while 54.5% of patients showed high endotoxin activity (positive EAA). RTCs incubated with plasma from EAA positive patients showed significantly higher apoptosis levels and higher caspase-3 activation compared to cells incubated with plasma from EAA negative patients, and a significant positive correlation was observed between EAA levels and RTC apoptosis levels. Furthermore, IL-6 and IFN-γ levels were significantly higher in CRS Type 5 patients with positive EAA. Our data suggest a possible relationship between endotoxin levels and renal cell death in septic patients with CRS Type 5. Furthermore, this study highlights the presence of renal apoptosis, the immune deregulation and the strong inflammation in CRS Type 5 patients, especially in those with high endotoxin activity. © 2017 S. Karger AG, Basel.

  3. An association between sudden infant death syndrome (SIDS) and Helicobacter pylori infection

    PubMed Central

    Kerr, J; Al-Khattaf, A; Barson, A; Burnie, J

    2000-01-01

    BACKGROUND—Helicobacter pylori has recently been detected in the stomach and trachea of cases of sudden infant death syndrome (SIDS) and proposed as a cause of SIDS.
AIMS—To establish the incidence of H pylori in the stomach, trachea, and lung of cases of SIDS and controls.
METHODS—Stomach, trachea, and lung tissues from 32 cases of SIDS and eight control cases were examined retrospectively. Diagnosis of SIDS was based on established criteria. Controls were defined by death within 1 year of age and an identifiable cause of death. Tissues were examined histologically for the presence of bacteria. Extracted DNA from these tissues was tested for H pylori ureC and cagA sequences by nested polymerase chain reaction and amplicons detected by enzyme linked immunosorbent assay (ELISA). The cut off for each ELISA for each of the tissue types was taken as the mean optical density plus two times the standard deviation of a range of negative controls.
RESULTS—Ages of SIDS cases ranged from 2 to 28 weeks. Ages of controls ranged from 3 to 44 weeks. For the ureC gene, 25 SIDS cases were positive in one or more tissues compared with one of the controls. For the cagA gene, 25 SIDS cases were positive in one or more tissues compared with one of the controls.
CONCLUSIONS—There is a highly significant association between H pylori ureC and cagA genes in the stomach, trachea, and lung of cases of SIDS when compared with controls.

 PMID:11040154

  4. Temporal trends in sudden infant death syndrome in Canada from 1991 to 2005: contribution of changes in cause of death assignment practices and in maternal and infant characteristics.

    PubMed

    Gilbert, Nicolas L; Fell, Deshayne B; Joseph, K S; Liu, Shiliang; León, Juan Andrés; Sauve, Reg

    2012-03-01

    The rate of sudden infant death syndrome (SIDS) declined significantly in Canada and the US between the late 1980s and the early 2000s. In the US, this decline was shown to be due in part to a shift in diagnosis, as deaths from accidental suffocation and strangulation in bed and from other ill-defined and unspecified cause increased concurrently. This study was undertaken to determine whether there was such a shift in diagnosis from SIDS to other causes of death in Canada, and to quantify the true temporal decrease in SIDS. Cause-specific infant death rates were compared across three periods: 1991-95, 1996-2000 and 2001-05 using the Canadian linked livebirth-infant death file. The temporal decline in SIDS was estimated after adjustment for maternal and infant characteristics such as maternal age and small-for-gestational age using logistic regression. Deaths from SIDS decreased from 78.4 [95% confidence interval (CI) 73.4, 83.4] per 100 000 livebirths in 1991-95, to 48.5 [95% CI 44.3, 52.7] in 1996-2000 and to 34.6 [95% CI 31.0, 38.3] in 2001-05. Mortality rates from other ill-defined and unspecified causes and accidental suffocation and strangulation in bed remained stable. The temporal decline in SIDS between 1991-95 and 2001-05 did not change substantially after adjustment for maternal and infant factors. It is unlikely that the temporal decline of SIDS in Canada was due to changes in cause-of-death assignment practices or in maternal and infant characteristics. © 2012 Blackwell Publishing Ltd.

  5. Childhood trauma perpetrated by close others, psychiatric dysfunction, and urological symptoms in patients with interstitial cystitis/bladder pain syndrome.

    PubMed

    Chiu, Chui-De; Lee, Ming-Huei; Chen, Wei-Chih; Ho, Hoi Lam; Wu, Huei-Ching

    2017-02-01

    A psychosocial phenotype of interstitial cystitis/bladder pain syndrome (IC/BPS), a urogenital condition without known organic causes, was proposed. While psychosocial variables, including interpersonal maltreatment and negative affect, were studied in association with IC/BPS, the specificities of the relationships between childhood trauma by close others, psychiatric dysfunctions (negative affect and post-traumatic psychopathology), and urogenital symptoms have not been established. 94 IC/BPS patients were recruited together with 47 patients with acute cystitis who served as clinical controls. Standardized scales were used to assess various potentially traumatizing events in childhood and adulthood as well as psychiatric (dissociation and negative affect) and urogenital symptoms. Among the potentially traumatizing events, those perpetrated by close others during childhood were found to be the most salient features discriminating the IC/BPS group from the control group. When divided into 2 subgroups according to their history of childhood trauma by close others, only IC/BPS patients with childhood trauma by close others had more dissociative and anxiety symptoms compared with the control group. These two subgroups did not differ in urogenital symptom severity. Childhood trauma by close others, rather than other types of interpersonal trauma, was a differentiating characteristic in IC/BPS patients, and a childhood trauma related psychosocial phenotype with a distinct clinical profile of dissociation and anxiety proneness was identified. Future studies should investigate whether a distinct set of pathogenic factors exists in IC/BPS patients with a history of childhood trauma by close others, even if this subgroup is not readily differentiated by urogenital symptoms. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Long-term Impact of Childhood Adiposity on Adult Metabolic Syndrome Is Modified by Insulin Resistance: The Bogalusa Heart Study.

    PubMed

    Zhang, Huijie; Zhang, Tao; Li, Shengxu; Li, Ying; Hussain, Azad; Fernandez, Camilo; Harville, Emily; Bazzano, Lydia A; He, Jiang; Chen, Wei

    2015-12-07

    Childhood adiposity and insulin resistance are well-known risk factors for adult metabolic syndrome (MetS). This study aims to examine whether the association between childhood adiposity and adult MetS is modified by insulin resistance. The cohort consisted of 1,593 black and white subjects, aged 19-50 years at follow-up, who were examined 19 years apart on average as children and adults for MetS variables. The prevalence of adult MetS was compared between the insulin-sensitive obesity and insulin-resistant obesity groups in childhood. Adult MetS prevalence was higher in the insulin-resistant obesity group than in the insulin-sensitive obesity group (34.9% vs. 24.3%, p = 0.008). In multivariable logistic regression analyses adjusted for age, race, gender, and follow-up years, individuals with insulin-resistant obesity in childhood were 1.7 times (p = 0.011) more likely to have MetS 19 years later on average than those with insulin-sensitive obesity in childhood. Odds ratio did not differ significantly between blacks and whites (p = 0.724). ORs for the association of childhood BMI with adult MetS significantly increased with increasing tertiles of childhood HOMA (p < 0.001 for trend). These findings suggest that insulin resistance amplifies the association between childhood adiposity and adult MetS and underscore the importance of preventing both adiposity and insulin resistance in early life.

  7. Childhood stunting and the metabolic syndrome components in young adults from a Brazilian birth cohort study

    PubMed Central

    Grillo, L P; Gigante, D P; Horta, B L; de Barros, F C F

    2016-01-01

    Background/Objectives: The aim of this study was to investigate the association between stunting in the second year of life and metabolic syndrome components in early adulthood among subjects who have been prospectively followed-up since birth, in a city in Southern Brazil. Subjects/Methods: In 1984, we attempted to follow-up the entire cohort; the subjects were examined and their mothers interviewed. Stunting was defined by a length-for-age Z-score 2 s.d. or more below the mean, in accordance with the World Health Organization reference. Between 2004 and 2005, we again tried to follow the entire cohort; during this period the subjects were evaluated for the following metabolic syndrome components: high-density lipoprotein (HDL) cholesterol, triglycerides, random blood glucose, waist circumference and systolic and diastolic blood pressure. Family income at the time of the baby's birth, asset index, mother's education, mother's smoking during pregnancy and duration of breastfeeding were considered possible confounders. Linear regression was used in the unadjusted and adjusted analyses. Results: Among men, stunting was inversely associated with triglycerides (β=−11.90, confidence interval (CI)=−22.33 to −1.48) and waist circumference (β=−4.29, CI=−5.62 to −2.97), whereas for women stunting was negatively related to HDL-cholesterol (β=−4.50, CI=−6.47 to −2.52), triglycerides (β=−9.61, CI=−17.66 to −1.56) and waist circumference (β=−1.14, CI=−4.22 to −1.02). However, after controlling for confounding variables, these associations vanished. Conclusions: The findings suggest that stunting in childhood is not associated with metabolic syndrome components in young adults. PMID:26733042

  8. Using birth defects registry data to evaluate infant and childhood mortality associated with birth defects: an alternative to traditional mortality assessment using underlying cause of death statistics.

    PubMed

    Copeland, Glenn E; Kirby, Russell S

    2007-11-01

    Although birth defects are a leading cause of death in infancy and early childhood, the proportion of all deaths to children with clinically diagnosed birth defects is not well documented. The study is intended to measure the proportion of all deaths to infants and children under age 10 occurring to children with birth defects and how and why this proportion differs from the proportion of deaths due to an underlying cause of congenital anomalies using standard mortality statistics. A linked file of Michigan livebirths and deaths was combined with data from a comprehensive multisource birth defects registry of Michigan livebirths born during the years 1992 through 2000. The data were analyzed to determine the mortality rate for infants and children with birth defects and for children with no reported birth defect. Mortality risk ratios were calculated. The underlying causes of death for children with birth defects were also categorized and compared to cause- specific mortality rates for the general population. Congenital anomalies were the underlying cause of death for 17.8% of all infant deaths while infants with birth defects were 33.7% of all infant deaths in the study. Almost half of all Michigan deaths to children aged 1 to 2 were within the birth defects registry, though only 15.0% had an underlying cause of death of a congenital anomaly based upon standard mortality statistics. The mortality experience among children with birth defects was significantly higher than other children throughout the first 9 years of life, ranging from 4.6 for 5 year olds to 12.8 for children 1 to 2. Mortality risk ratios examined by cause of death for infants with birth defects were highest for other endocrine (28.1), other CNS (28.1), and heart (21.9) conditions. For children 1 through 9, the highest differential risk was seen for other perinatal conditions (39.0), other endocrine (29.7), other CNS (24.5), and heart (21.4). Childhood mortality analyses that incorporate birth

  9. Impact of Acute Coronary Syndrome Complicated by Ventricular Fibrillation on Long-term Incidence of Sudden Cardiac Death.

    PubMed

    Álvarez-Álvarez, Belén; Bouzas-Cruz, Noelia; Abu-Assi, Emad; Raposeiras-Roubin, Sergio; López-López, Andrea; González Cambeiro, María Cristina; Peña-Gil, Carlos; García-Acuña, José María; González-Juanatey, José Ramón

    2015-10-01

    There is little information on the effect of acute coronary syndrome complicated by ventricular fibrillation on the long-term incidence of sudden cardiac death. We analyzed this effect in a contemporary cohort of patients with acute coronary syndrome. We studied 5302 consecutive patients with acute coronary syndrome between December 2003 and December 2012. We compared mortality during and after hospitalization according to the presence or absence of ventricular fibrillation. Ventricular fibrillation was observed in 163 (3.1%) patients, and was early onset in 72.4% of these patients. In-hospital mortality was 36.2% in the group with ventricular fibrillation and 4.7% in the group without (p<.001). After a mean follow-up of 4.7 years (standard deviation, 2.6 years), mortality was 30.7% in the ventricular fibrillation group and 24.7% in the other group (P=.23). After adjusting for confounding variables, the presence of ventricular fibrillation was not associated with an increased risk of death in the follow-up period (hazard ratio=1.29; 95% confidence interval, 0.90-1.87). The cause of death was established in 72% of patients. The incidence of sudden death was 12.9% in the ventricular fibrillation group and 11.9% in the other group (P=.71). Cardiovascular-cause mortality was also similar between the 2 groups (35.5% and 34.4%, respectively. Patients with acute coronary syndrome complicated by ventricular fibrillation who survive the in-hospital phase do not appear to be at an increased risk of sudden cardiac death or other cardiovascular-cause death. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  10. A “Wear and Tear” Hypothesis to Explain Sudden Infant Death Syndrome

    PubMed Central

    Elhaik, Eran

    2016-01-01

    Sudden infant death syndrome (SIDS) is the leading cause of death among USA infants under 1 year of age accounting for ~2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19), its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40), the significantly different SIDS rate among USA Hispanics (80% lower) compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitivity to pain and decreased heart rate variability, which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that groups that practice high male circumcision rates, such as USA whites, will have higher SIDS rates compared to groups with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among people that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who experienced fewer

  11. Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

    PubMed

    Stafstrom, Carl E

    2009-08-01

    Advances in genetics have increased our understanding of the underlying pathophysiologic mechanisms that cause severe epilepsy syndromes of early childhood. Many of the mutations associated with these syndromes are located in genes coding for ion channels or their accessory subunits, giving rise to the concept of epilepsy ;;channelopathies.'' In particular, the SCN1A gene coding for the pore-forming a-subunit of the voltage-gated sodium channel Na(V)1.1 appears to be a common target for epilepsy syndrome-specific mutations. An SCN1A mutation can potentially result in either a gain or loss of sodium channel function. Epilepsies linked to SCN1A mutations range from a relatively benign syndrome called generalized epilepsy with febrile seizures plus to severe childhood epilepsies such as severe myoclonic epilepsy of infancy (Dravet syndrome). The availability of genetic tests for SCN1A mutations is expanding awareness of the spectrum of diseases mediated by this gene and is beginning to permit genotype- phenotype correlations. Eventually, such information might enable clinicians to select an appropriate therapeutic regimen for patients with specific epilepsy gene mutations.

  12. Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood.

    PubMed

    Rumman, Rawan K; Nickel, Cheri; Matsuda-Abedini, Mina; Lorenzo, Armando J; Langlois, Valerie; Radhakrishnan, Seetha; Amaral, Joao; Mertens, Luc; Parekh, Rulan S

    2015-07-01

    Middle aortic syndrome (MAS) is a rare clinical entity in childhood, characterized by a severe narrowing of the distal thoracic and/or abdominal aorta, and associated with significant morbidity and mortality. MAS remains a relatively poorly defined disease. This paper systematically reviews the current knowledge on MAS with respect to etiology, clinical impact, and therapeutic options. A systematic search of 3 databases (Embase, MEDLINE, and Cochrane Central Register of Controlled Trials) yielded 1,252 abstracts that were screened based on eligibility criteria resulting in 184 full-text articles with 630 reported cases of childhood MAS. Data extracted included patient characteristics, clinical presentation, vascular phenotype, management, and outcomes. Most cases of MAS are idiopathic (64%), 15% are associated with Mendelian disorders, and 17% are related to inflammatory diseases. Extra-aortic involvement including renal (70%), superior mesenteric (30%), and celiac (22%) arteries is common, especially among those with associated Mendelian disorders. Inferior mesenteric artery involvement is almost never reported. The majority of cases (72%) undergo endovascular or surgical management with residual hypertension reported in 34% of cases, requiring medication or reintervention. Clinical manifestations and extent of extra-aortic involvement are lacking. MAS presents with significant involvement of visceral arteries with over two thirds of cases having renal artery stenosis, and one third with superior mesenteric artery stenosis. The extent of disease is worse among those with genetic and inflammatory conditions. Further studies are needed to better understand etiology, long-term effectiveness of treatment, and to determine the optimal management of this potentially devastating condition. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  13. Zinc supplementation as an adjunct to standard therapy in childhood nephrotic syndrome - a systematic review

    PubMed Central

    Bhatt, Girish Chandra; Jain, Shikha; Das, Rashmi Ranjan

    2016-01-01

    AIM To evaluate the role of zinc as add on treatment to the “recommended treatment” of nephrotic syndrome (NS) in children. METHODS All the published literature through the major databases including Medline/Pubmed, Embase, and Google Scholar were searched till 31st December 2015. Reference lists from the articles were reviewed to identify additional pertinent articles. Retrieved papers concerning the role of zinc in childhood NS were reviewed by the authors, and the data were extracted using a standardized data collection tool. Randomized trials (RCTs) comparing zinc vs placebo was included. Effect of zinc was studied in both steroid sensitive and steroid dependent/frequent relapsing NS. The primary outcome measure was the risk of relapse in 12 mo. The secondary outcome measures were mean relapse rate per patient in 12 mo, mean relapse rate per patient in 6 mo, risk of infection associated relapse in 12 mo, cumulative dose of steroids in two groups, mean length of time to next relapse, adverse effects of therapy, and change in serum zinc levels. RESULTS Of 54 citations retrieved, a total of 6 RCTs were included. Zinc was used at a dose of 10-20 mg/d, for the duration that varied from 6-12 mo. Compared to placebo, zinc reduced the frequency of relapses, induced sustained remission/no relapse, reduced the proportion of infection episodes associated with relapse with a mild adverse event in the form of metallic taste. The GRADE evidence generated was of “very low-quality”. CONCLUSION Zinc may be a useful additive in the treatment of childhood NS. The evidence generated mostly was of “very low-quality”. We need more good quality RCTs in different country setting as well different subgroups of children before any firm recommendation can be made. PMID:27872827

  14. Could sudden death syndrome (SDS) in chickens (Gallus gallus) be a valid animal model for sudden unexpected death in epilepsy (SUDEP)?

    PubMed

    Scorza, F A; de Albuquerque, R; Arida, R M; Schmidt, B; de Almeida, Antonio-Carlos G; Scorza, Carla A; Cavalheiro, E A

    2009-07-01

    Epilepsy is the most common serious neurological disorder and approximately 1% of the population worldwide has epilepsy. Moreover, sudden unexpected death in epilepsy (SUDEP) is the most important direct epilepsy-related cause of death. Information concerning risk factors for SUDEP is conflicting, but potential risk factors include: young age, early onset of epilepsy, duration of epilepsy, uncontrolled seizures, seizure frequency, AED number and winter temperatures. Additionally, the cause of SUDEP is still unknown; however, the most commonly suggested mechanisms are cardiac abnormalities during and between seizures. Similarly, sudden death syndrome (SDS) is a disease characterized by an acute death of well-nourished and seeming healthy Gallus gallus after abrupt and brief flapping of their wings and incidence of SDS these animals has recently increased worldwide. Moreover, the exactly cause of SDS in Gallus gallus is unknown, but is very probable that cardiac abnormalities play a potential role. Due the similarities between SUDEP and SDS and as Gallus gallus behavioral manifestation during SDS phenomenon is close of a tonic-clonic seizure, in this paper we suggest that epilepsy could be a new possible causal factor for SDS.

  15. PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.

    PubMed

    Liebrechts-Akkerman, Germaine; Liu, Fan; Lao, Oscar; Ooms, Ariadne H A G; van Duijn, Kate; Vermeulen, Mark; Jaddoe, Vincent W; Hofman, Albert; Engelberts, Adèle C; Kayser, Manfred

    2014-07-01

    Unclassified sudden infant death (USID) is the sudden and unexpected death of an infant that remains unexplained after thorough case investigation including performance of a complete autopsy and review of the circumstances of death and the clinical history. When the infant is below 1 year of age and with onset of the fatal episode apparently occurring during sleep, this is referred to as sudden infant death syndrome (SIDS). USID and SIDS remain poorly understood despite the identification of several environmental and some genetic risk factors. In this study, we investigated genetic risk factors involved in the autonomous nervous system in 195 Dutch USID/SIDS cases and 846 Dutch, age-matched healthy controls. Twenty-five DNA variants from 11 genes previously implicated in the serotonin household or in the congenital central hypoventilation syndrome, of which some have been associated with SIDS before, were tested. Of all DNA variants considered, only the length variation of the polyalanine repeat in exon 3 of the PHOX2B gene was found to be statistically significantly associated with USID/SIDS in the Dutch population after multiple test correction. Interestingly, our data suggest that contraction of the PHOX2B exon 3 polyalanine repeat that we found in six of 160 SIDS and USID cases and in six of 814 controls serves as a probable genetic risk factor for USID/SIDS at least in the Dutch population. Future studies are needed to confirm this finding and to understand the functional effect of the polyalanine repeat length variation, in particular contraction, in exon 3 of the PHOX2B gene.

  16. Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention

    PubMed Central

    Vieth, Teri; Rodriguez, Carolina; Lona, Nicole; Molina, Rogelio; Habebo, Emnet; Caldera, Enrique; Garcia, Cynthia; Veazey, Gregory

    2014-01-01

    Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS). An emergency department (ED) visit may provide an opportunistic ‘teachable moment’ for parents. Objectives. To test the hypotheses (1) that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS) prevention than other recommendations, and (2) that an ED educational intervention would increase pacifier use in infants younger than six months, and (3) that otitis media would not occur more frequently in pacifier users. Methods. We did an intervention-group-only longitudinal study in a county hospital ED. We measured pacifier use infants and baseline knowledge of SIDs prevention recommendations in caregivers. We followed up three months later to determine pacifier use, and 12 months later to determine episodes of otitis media. Results. We analyzed data for 780 infants. Parents knew of advice against co-sleeping in 469/780 (60%), smoking in 660/776 (85%), and prone sleeping in 613/780 (79%). Only 268/777 (35%) knew the recommendation to offer a pacifier at bedtime. At enrollment 449/780 (58%) did not use a pacifier. Of 210/338 infants aged less than 6 months followed up 41/112 (37%) non-users had started using a pacifier at bedtime (NNT 3). Over the same period, 37/98 (38%) users had discontinued their pacifier. Otitis media did not differ between users and non-users at 12 months. Conclusion. Caregiver knowledge of the role of pacifiers in SIDS prevention was less than for other recommendations. Our educational intervention appeared to increase pacifier use. Pacifier use was not associated with increased otitis media. PMID:24688883

  17. Undiagnosed metabolic dysfunction and sudden infant death syndrome--a case-control study.

    PubMed

    Rosenthal, Ning An; Currier, Robert J; Baer, Rebecca J; Feuchtbaum, Lisa; Jelliffe-Pawlowski, Laura L

    2015-03-01

    Decades of research has yielded few clues about causes of sudden infant death syndrome (SIDS). While some studies have shown a link to inborn errors of metabolism (IEMs), few have examined the link in a large population-based sample. This population-based case-control study assessed the association between undiagnosed IEMs and SIDS. Children born in California during 2005-08 who died from SIDS were obtained from death records and linked to the newborn screening, birth certificate, and hospital discharge databases. Individuals with known chromosomal and neural tube defects, genetic disorders, and non-singleton births were excluded. Five controls were matched to each case on tandem mass spectrometry testing date and lab code. Rates of undiagnosed IEMs were compared between cases and controls using conditional logistic regression adjusting for known confounding factors. After adjusting for known confounding factors, SIDS cases had similar risk of having IEMs as controls (adjusted hazard ratio [HR] 1.3, 95% confidence interval [CI] 0.3, 5.5). Infants who were male, Black, and born preterm had higher risk of SIDS with the highest risk observed for those born preterm [adjusted HR = 1.7, 95% CI 1.3, 2.2]. Younger maternal age at delivery, mother being born in the US, parity after current birth >3, and delayed prenatal care were also significantly associated with higher risk of SIDS. While many maternal and infant factors are associated with an increased risk of SIDS, there is no evidence that undiagnosed IEMs are associated with increased risk. © 2015 John Wiley & Sons Ltd.

  18. Candidate gene variants of the immune system and sudden infant death syndrome.

    PubMed

    Fard, Delnaz; Läer, Katharina; Rothämel, Thomas; Schürmann, Peter; Arnold, Matthias; Cohen, Marta; Vennemann, Mechtild; Pfeiffer, Heidi; Bajanowski, Thomas; Pfeufer, Arne; Dörk, Thilo; Klintschar, Michael

    2016-07-01

    Sudden infant death syndrome (SIDS) causes early infant death with an incidence between 0.5 and 2.5 cases among 1000 live births. Besides central sleep apnea and thermal dysregulation, infections have been repeatedly suggested to be implicated in SIDS etiology. To test the risk contribution of common genetic variants related to infection, we genotyped 40 single-nucleotide polymorphisms (SNPs) from 15 candidate genes for association with SIDS in a total of 579 cases and 1124 controls from Germany and the UK in a two-stage case control design. The discovery-stage series (267 SIDS cases and 303 controls) revealed nominally significant associations for variants in interleukin 6 (IL6) (rs1880243), interleukin 10 (IL10) (rs1800871, rs1800872), and mannose-binding lectin 2 (MBL2) (rs930506), and for several other variants in subgroups. Meta-analyses were then performed in adding genotype information from a genome-wide association study of another 312 European SIDS cases and 821 controls. Overall associations were observed for two independent variants in MBL2: rs930506 in a co-dominant model (odds ratio (OR) = 0.82, p = 0.04) and rs1838065 in a dominant model (OR = 1.27, p = 0.03). Our study did not replicate published associations of IL10 variants with SIDS. However, the evidence for two independent MBL2 variants in the combined analysis of two large series seems consistent with the hypothesis that infection may play a role in SIDS pathogenesis.

  19. Leptomeningeal neurons are a common finding in infants and are increased in sudden infant death syndrome.

    PubMed

    Rickert, Christian H; Gros, Oliver; Nolte, Kay W; Vennemann, Mechtild; Bajanowski, Thomas; Brinkmann, Bernd

    2009-03-01

    Developmental abnormalities of the brain, in particular, the brainstem potentially affecting centers for breathing, circulation and sleep regulation, are thought to be involved in the etiology of sudden infant death syndrome (SIDS). In order to investigate whether leptomeningeal neurons could serve as morphological indicators for a developmental failure or retardation in cerebral maturation, we evaluated the density of isolated leptomeningeal neurons (without associated glia) in 15 brain regions of 24 SIDS and 8 control cases, representing part of the German Study on sudden infant death. Leptomeningeal neurons were encountered in 79% of SIDS and 68% of control cases. More leptomeningeal neurons in SIDS versus control cases were found in lower pons (p = 0.002), upper pons (p = 0.016), cerebellar hemispheres (p = 0.012), lower medulla oblongata (p = 0.039), and temporal lobe (p = 0.041). Summarizing the data according to gross anatomical region of origin (i.e., brainstem, cerebellum or cerebrum), higher numbers of leptomeningeal neurons in SIDS cases were only found in the brainstem (p = 0.006 vs. 0.13 and 0.19, respectively). Our data show that single leptomeningeal neurons are present in most normal infantile brains. The age-dependent increase of leptomeningeal neurons among SIDS cases may either (a) represent a delayed maturation or retardation, i.e., a later or slower reduction of neurons or a delayed peak in occurrence (shift toward an older age), or (b) may be interpreted as a generally increased occurrence of leptomeningeal neurons among SIDS cases as a result of a diffuse developmental abnormality during central nervous system maturation.

  20. IQ in Childhood and the Metabolic Syndrome in Middle Age: Extended Follow-Up of the 1946 British Birth Cohort Study

    ERIC Educational Resources Information Center

    Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.

    2009-01-01

    IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated…

  1. IQ in Childhood and the Metabolic Syndrome in Middle Age: Extended Follow-Up of the 1946 British Birth Cohort Study

    ERIC Educational Resources Information Center

    Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.

    2009-01-01

    IQ in early adulthood has been inversely associated with risk of the metabolic syndrome in midlife. We tested this association in the British 1946 birth cohort, which assessed IQ at age eight years and ascertained the metabolic syndrome at age 53 years based on modified (non-fasting blood) ATPIII criteria. Childhood IQ was inversely associated…

  2. Infant pacifiers for reduction in risk of sudden infant death syndrome.

    PubMed

    Psaila, Kim; Foster, Jann P; Pulbrook, Neil; Jeffery, Heather E

    2017-04-05

    Sudden infant death syndrome (SIDS) has been most recently defined as the sudden unexpected death of an infant less than one year of age, with onset of the fatal episode apparently occurring during sleep, that remains unexplained after a thorough investigation, including the performance of a complete autopsy and a review of the circumstances of death and clinical history. Despite the success of several prevention campaigns, SIDS remains a leading cause of infant mortality. In 1994, a 'triple risk model' for SIDS was proposed that described SIDS as an event that results from the intersection of three factors: a vulnerable infant; a critical development period in homeostatic control (age related); and an exogenous stressor. The association between pacifier (dummy) use and reduced incidence of SIDS has been shown in epidemiological studies since the early 1990s. Pacifier use, given its low cost, might be a cost-effective intervention for SIDS prevention if it is confirmed effective in randomised controlled trials. To determine whether the use of pacifiers during sleep versus no pacifier during sleep reduces the risk of SIDS. We used the standard search strategy of the Cochrane Neonatal Review Group to search the Cochrane Central Register of Controlled Trials (CENTRAL 2016, Issue 2), MEDLINE via PubMed, Embase, and CINAHL to 16 March 2016. We also searched clinical trials databases, conference proceedings, and the reference lists of retrieved articles for randomised controlled trials and quasi-randomised trials. Published and unpublished controlled trials using random and quasi-random allocations of infants born at term and at preterm (less than 37 weeks' gestation) or with low birth weight (< 2500 g). Infants must have been randomised by one month' postmenstrual age. We planned to include studies reported only by abstracts, and cluster and cross-over randomised trials. Two review authors independently reviewed studies from searches. We found no eligible studies. We

  3. Identification of rare variants of DSP gene in Sudden Unexplained Nocturnal Death Syndrome in the southern Chinese Han population

    PubMed Central

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo

    2016-01-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients and 2 Early Repolarization syndrome (ERS) patients using Next Generation Sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to bepathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results implies that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome. PMID:26585738

  4. Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo; Quan, Li; Makielski, Jonathan C; Cheng, Jianding

    2016-03-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients, and 2 early repolarization syndrome (ERS) patients using next generation sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to be pathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q, and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome.

  5. Beyond childhood: psychiatric comorbidities and social background of adults with Asperger syndrome.

    PubMed

    Roy, Mandy; Prox-Vagedes, Vanessa; Ohlmeier, Martin D; Dillo, Wolfgang

    2015-03-01

    Over the past few years, our knowledge about Asperger syndrome (AS) has increased enormously. Although it used to be a syndrome mainly encountered in childhood and adolescent psychiatry, it is now increasingly recognized in adult psychiatry. Nevertheless, little is known about psychiatric comorbidities and life course of adults with AS. The current study aimed to gain an insight into comorbidities and the development of the social situation of adults with AS. We investigated psychiatric comorbidities, psychiatric history, professional background, partnerships, and children in 50 adults with AS (34 men and 16 women) over a broad age range (20-62 years). Seventy percent of adults with AS had at least one psychiatric comorbiditiy. Most frequent comorbidities were depression and anxiety disorders. Obsessive-compulsive disorder and alcohol abuse/dependence were also observed. Many adults had previously been treated with psychopharmacological or psychotherapeutic interventions. Although most adults had a high-level school leaving certificate and had gone on to complete training/university studies, less than half were currently in employment. Fourteen adults were living in a partnership and 10 had children. Adults with AS often have psychiatric comorbidities, indicating lower levels of mental health. Additionally, they seem to have severe limitations concerning professional success, despite having a good school education. Their family situation is also impaired with regard to starting a family. These considerable limitations in the life of adults with AS may help to understand their specific problems, and emphasize the importance of developing specific treatments for improving their mental health and social integration.

  6. Metabolic syndrome in childhood from impaired carbohydrate metabolism to nonalcoholic fatty liver disease.

    PubMed

    Manco, Melania

    2011-10-01

    Compelling evidence supports the concept that nonalcoholic fatty liver disease (NAFLD) represents the hepatic component of metabolic syndrome (MetS). Intrahepatic fat seems to predict more strongly than does visceral adiposity an individual's cardiovascular risk and the likelihood that metabolic abnormalities are present in youth. Young individuals with fatty liver are more insulin resistant and present with a higher prevalence of metabolic abnormalities than do individuals without intrahepatic fat accumulation. They also present with a certain endothelial dysfunction and greater carotid intima-media thickness. Conversely, youth with MetS seem to have an increased risk of developing liver inflammation, a condition termed nonalcoholic steatohepatitis (NASH), and fibrosis. In the context of MetS, the liver is central in that it can drive both hepatic and systemic insulin resistance, trigger low-grade inflammation, and promote atherogenic processes. In the context of MetS, NAFLD and altered carbohydrate metabolism track from childhood to adulthood. Thus, prevention, recognition, and effective treatment of these two abnormalities may limit the burden of morbidity and mortality associated with obesity and may delay onset of cardiovascular disease in early adulthood. The present review aims at systematically presenting evidence of the critical interplay of fatty liver and altered glucose metabolism in youth. It attempts to provide pathogenetic explanations for such an association and the rationale for its treatment, with particular regard to nutritional interventions. Key teaching points: Overweight and obese youth should be screened for fatty liver disease once after puberty by liver function tests and ultrasonography. Screening for fatty liver should be accurately performed in young patients with features of metabolic syndrome. Obese patients with fatty liver are at increased risk for altered glucose metabolism, thus they should undergo an oral glucose tolerance test

  7. Vulnerability of fourth ventricle choroid plexus in sudden unexplained fetal and infant death syndromes related to smoking mothers.

    PubMed

    Lavezzi, Anna M; Matturri, Luigi; Del Corno, Giuseppe; Johanson, Conrad E

    2013-08-01

    The human choroid plexuses in the ventricular system represent the main source of cerebrospinal fluid secretion and constitute a major barrier interface that controls the brain's environment. The present study focused on the choroid plexus of the fourth ventricle, the main cavity of the brainstem containing important nuclei and/or structures mediating autonomic vital functions. In serial sections of 84 brainstems of subjects aged from 17 gestational weeks to 8 postnatal months of life, the deaths due to both known and unknown causes, we examined the cytoarchitecture and the developmental steps of the fourth ventricle choroid plexus to determine whether this structure shows morphological and/or functional alterations in unexplained perinatal deaths (Sudden Infant Death Syndrome and Sudden Intrauterine Unexplained Death Syndrome). High incidence of histological and immunohistochemical alterations (prevalence of epithelial dark cells, the presence of cystic cells in the stroma, decreased number of blood capillaries, hyperexpression of Substance P and apoptosis) were prevalently observed in unexplained death victims (p<0.05 vs. controls). A significant correlation was found between maternal smoking in pregnancy and choroidal neuropathological parameters (p<0.01). This work underscores the negative effects of prenatal exposure to nicotine on the development of the autonomic nervous system, and in particular of the fourth ventricle choroid plexus that is a very vulnerable structure in the developing CSF-brain system.

  8. Sleeping position and sudden infant death syndrome in Norway 1967-91.

    PubMed Central

    Irgens, L M; Markestad, T; Baste, V; Schreuder, P; Skjaerven, R; Oyen, N

    1995-01-01

    OBJECTIVE--To investigate, in a population based national study, the association between sleeping position of infants and the occurrence of sudden infant death syndrome (SIDS). DESIGN--A retrospective survey and registry based ecological study. A questionnaire based surveillance of sleeping position was obtained in a random sample (n = 34,799) and surveillance of SIDS was based on all infants born in Norway 1967-91, surviving the perinatal period. Variables studied from the questionnaire were usual sleeping position (placed), breast feeding at 3 months, and maternal smoking in pregnancy, and from the Medical Birth Registry maternal age, birth order, and birth weight. RESULTS--Proportion of infants sleeping prone increased from 1970 (7.4%) to 1989 (49.1%) and dropped in 1990 (26.8%) and 1991 (28.3%). Occurrence of SIDS increased from 1970 (1.1/1000) to 1989 (2.0) before dropping in 1990 and 1991 (1.1). IMPLICATION AND RELEVANCE OF RESULTS--A cause effect relationship between prone sleeping and SIDS as suggested in previous studies is supported by the present; and so far only, national study of infants' sleeping position. PMID:7618929

  9. Peripheral chemoreceptors: postnatal development and cytochemical findings in Sudden Infant Death Syndrome.

    PubMed

    Porzionato, Andrea; Macchi, Veronica; Parenti, Anna; Matturri, Luigi; De Caro, Raffaele

    2008-03-01

    The aim of the present study is to give a review of the postnatal development of peripheral chemoreceptors - carotid body, paraganglia, and pulmonary neuroendocrine cells (PNEC) - with implications in Sudden Infant Death Syndrome (SIDS). In the postnatal period, the hypoxic chemosensitivity of the carotid body gradually develops. Changes include proliferation of type I and II cells, increased numbers of dense core vesicles and K+ channels, and modifications of neurotransmitter/neuromodulator and receptor expression. Chromaffin paraganglia show increased expression of nitric oxide synthase and neuropeptides, and increased innervation. Innervation of PNEC develops fully only in the first postnatal period, after which their density falls. The neuropeptides produced by PNEC also changes, with increased expression of calcitonin gene-related peptide and neuropeptide YY and reduced expression of calcitonin and gastrin-releasing peptide. Most of the findings in the carotid body of SIDS victims, i.e., decrease in type I cells and dense cytoplasmic granules, and increase in progenitor cells, indicates immaturity of the carotid body, which may play a role in SIDS in the form of underlying biologic vulnerability. Aorticopulmonary paraganglia hyperplasia and increase of PNEC are also found in SIDS, and may be epiphenomena of alterations of the respiratory function with a pathogenetical role in SIDS. A comprehensive view of the pathogenesis of SIDS should also arise from the integration of peripheral chemoreceptors findings with neuro- and cardiopathologic ones.

  10. Persistent Delirium in Chronic Critical Illness as a Prodrome Syndrome before Death.

    PubMed

    DeForest, Anna; Blinderman, Craig D

    2017-05-01

    Chronic critical illness (CCI) patients have poor functional outcomes, high risk of mortality, and significant sequelae, including delirium and cognitive dysfunction. The prognostic significance of persistent delirium in patients with CCI has not been well described. We report a case of a patient with CCI following major cardiac surgery who was hemodynamically stable following a long course in the cardiothoracic intensive care unit (CTICU), but had persistent and unremitting delirium. Despite both pharmacological and nonpharmacological approaches to improve his delirium, the patient ultimately continued to have symptoms of delirium and subsequently died in the CTICU. Efforts to reconsider the goals of care, given his family's understanding of his values, were met with resistance as his cardiothoracic surgeon believed that he had a reasonable chance of recovery since his organs were not in failure. This case description raises the question of whether we should consider persistent delirium as a prodrome syndrome before death in patients with CCI. Study and analysis of a case of a patient with CCI following major cardiothoracic surgery who was hemodynamically stable with persistent delirium. Further studies of the prevalence and outcomes of prolonged or persistent agitated delirium in patients with chronic critical illness are needed to provide prognostic information that can assist patients and families in receiving care that accords with their goals and values.

  11. Hypothesis on supine sleep, sudden infant death syndrome reduction and association with increasing autism incidence

    PubMed Central

    Bergman, Nils J

    2016-01-01

    AIM To identify a hypothesis on: Supine sleep, sudden infant death syndrome (SIDS) reduction and association with increasing autism incidence. METHODS Literature was searched for autism spectrum disorder incidence time trends, with correlation of change-points matching supine sleep campaigns. A mechanistic model expanding the hypothesis was constructed based on further review of epidemiological and other literature on autism. RESULTS In five countries (Denmark, United Kingdom, Australia, Israel, United States) with published time trends of autism, change-points coinciding with supine sleep campaigns were identified. The model proposes that supine sleep does not directly cause autism, but increases the likelihood of expression of a subset of autistic criteria in individuals with genetic susceptibility, thereby specifically increasing the incidence of autism without intellectual disability. CONCLUSION Supine sleep is likely a physiological stressor, that does reduce SIDS, but at the cost of impact on emotional and social development in the population, a portion of which will be susceptible to, and consequently express autism. A re-evaluation of all benefits and harms of supine sleep is warranted. If the SIDS mechanism proposed and autism model presented can be verified, the research agenda may be better directed, in order to further decrease SIDS, and reduce autism incidence. PMID:27610351

  12. Assessing Field-Specific Risk of Soybean Sudden Death Syndrome Using Satellite Imagery in Iowa.

    PubMed

    Yang, S; Li, X; Chen, C; Kyveryga, P; Yang, X B

    2016-08-01

    Moderate resolution imaging spectroradiometer (MODIS) satellite imagery from 2004 to 2013 were used to assess the field-specific risks of soybean sudden death syndrome (SDS) caused by Fusarium virguliforme in Iowa. Fields with a high frequency of significant decrease (>10%) of the normalized difference vegetation index (NDVI) observed in late July to middle August on historical imagery were hypothetically considered as high SDS risk. These high-risk fields had higher slopes and shorter distances to flowlines, e.g., creeks and drainages, particularly in the Des Moines lobe. Field data in 2014 showed a significantly higher SDS level in the high-risk fields than fields selected without considering NDVI information. On average, low-risk fields had 10 times lower F. virguliforme soil density, determined by quantitative polymerase chain reaction, compared with other surveyed fields. Ordinal logistic regression identified positive correlations between SDS and slope, June NDVI, and May maximum temperature, but high June maximum temperature hindered SDS. A modeled SDS risk map showed a clear trend of potential disease occurrences across Iowa. Landsat imagery was analyzed similarly, to discuss the ability to utilize higher spatial resolution data. The results demonstrated the great potential of both MODIS and Landsat imagery for SDS field-specific risk assessment.

  13. Neurochemical abnormalities in the brainstem of the Sudden Infant Death Syndrome (SIDS).

    PubMed

    Machaalani, Rita; Waters, Karen A

    2014-12-01

    The brainstem has been a focus in Sudden Infant Death Syndrome (SIDS) research for 30 years. Physiological and animal model data show that cardiorespiratory, sleep, and arousal mechanisms are abnormal after exposure to SIDS risk factors or in infants who subsequently die from SIDS. As the brainstem houses the regulatory centres for these functions, it is the most likely site to find abnormalities. True to this hypothesis, data derived over the last 30 years shows that the brainstem of infants who died from SIDS exhibits abnormalities in a number of major neurotransmitter and receptor systems including: catecholamines, neuropeptides, acetylcholinergic, indole amines (predominantly serotonin and its receptors), amino acids (predominantly glutamate), brain derived neurotrophic growth factor (BDNF), and some cytokines. A pattern is emerging of particular brainstem nuclei being consistently affected including the dorsal motor nucleus of the vagus (DMNV), nucleus of the solitary tract (NTS), arcuate nucleus (AN) and raphe. We discuss the implications of these findings and directions that this may lead in future research. Copyright © 2014 Elsevier Ltd. All rights reserved.

  14. Prevention of Sudden Infant Death Syndrome (SIDS) in Bavaria - evaluation of a prevention campaign.

    PubMed

    Nennstiel-Ratzel, U; Hölscher, Gabriele; Ehrensperger-Reeh, P; von Kries, R; Wildner, M

    2010-01-01

    With simple prevention measures SIDS (Sudden Infant Death Syndrome) incidence rates can be reduced. A cross-sectional survey in Bavaria in 2005 showed that maternity units fall short in acting as role models and informing parents regarding SIDS prevention and that parents did not sufficiently apply prevention measures. An information campaign in Bavaria was initialized and evaluated after 18 months. Flyers and posters for SIDS prevention using consistent information were developed for dissemination by the relevant occupational groups. The campaign impact was assessed in repeating the cross-sectional survey. A response rate of 99% for the maternity units and 60% for the parent questionnaires could be achieved. Significant improvements (p<0.05) in the maternity units regarded a higher proportion of parents informed about SIDS prevention measures (97 vs. 92%) and an increased use of sleeping bags (37 vs. 12%), whereas the proportion of children placed in supine position to sleep was not increased. More parents reported to have obtained advice for SIDS prevention (83 vs. 73%) and to have used sleeping bags (66 vs. 56%). A subgroup analysis revealed poorer information and implementation of the recommendations in families with three or more children and less educated families. After initiation of the information campaign reported knowledge about SIDS prevention measures increased. Continuing shortfalls exist regarding maternity units acting as role models and implementation of the recommendations by the parents. Future interventions should focus in particular on the role model function of maternity units and target groups. Georg Thieme Verlag KG Stuttgart * New York.

  15. Sodium/proton exchanger 3 (NHE3) and sudden infant death syndrome (SIDS).

    PubMed

    Studer, Jacqueline; Bartsch, Christine; Haas, Cordula

    2014-11-01

    The sodium/proton exchanger protein 3 (NHE3) is located in chemosensitive areas of the medulla oblongata and plays an important role in the central control of respiration. Overexpression of NHE3 is correlated with lower respiration and might therefore contribute to the vulnerability of infants dying suddenly and unexpected (sudden infant death syndrome, SIDS). Our aim in this study was to verify already reported genetic variations in the NHE3 gene in an independent SIDS cohort from Switzerland. Two single nucleotide polymorphisms (SNPs) in the promoter region (G1131A and C1197T) and one variation in the coding sequence of exon 16 (C2405T) in the NHE3 gene were analyzed in 160 Caucasian SIDS infants and 192 Swiss adult controls by using a single base extension method (SNaPshot multiplex). No significant differences were detected in the allelic frequencies of the three NHE3 polymorphisms between SIDS cases and controls. We conclude that the three investigated NHE3 SNPs are unlikely to play a major role in the pathogenesis of SIDS in Caucasian infants. However, further genetic investigations in different ethnicities are required to determine whether variations in NHE3 are associated with an increased SIDS risk.

  16. Aquaporin-4 polymorphisms and brain/body weight ratio in sudden infant death syndrome (SIDS).

    PubMed

    Studer, Jacqueline; Bartsch, Christine; Haas, Cordula

    2014-07-01

    Failure in the regulation of homeostatic water balance in the brain is associated with severe cerebral edema and increased brain weights and may also play an important role in the pathogenesis of sudden infant death syndrome (SIDS). We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (AQP4), which were previously shown to be associated with (i) SIDS in Norwegian infants (rs2075575), (ii) severe brain edema (rs9951307), and (iii) increased brain water permeability (rs3906956). We also determined whether the brain/body weight ratio is increased in SIDS infants compared with sex- and age-matched controls. Genotyping of the three AQP4 single-nucleotide polymorphisms was performed in 160 Caucasian SIDS infants and 181 healthy Swiss adults using a single-base extension method. Brain and body weights were measured during autopsy in 157 SIDS and 59 non-SIDS infants. No differences were detected in the allelic frequencies of the three AQP4 single-nucleotide polymorphisms between SIDS and adult controls. The brain/body weight ratio was similarly distributed in SIDS and non-SIDS infants. Variations in the AQP4 gene seem of limited significance as predisposing factors in Caucasian SIDS infants. Increased brain weights may only become evident in conjunction with environmental or other genetic risk factors.

  17. Maternal smoking and increased risk of sudden infant death syndrome: a meta-analysis.

    PubMed

    Zhang, Kui; Wang, Xianmin

    2013-05-01

    Maternal smoking is detrimental to the development of fetuses and neonates. This meta-analysis was performed to measure the accumulated association of sudden infant death syndrome (SIDS) risk with both prenatal and postnatal maternal smoking. The odds ratio (OR) corresponding to the 95% confidence interval (CI) was used to assess the associations between maternal smoking and SIDS risk. The statistical heterogeneity among studies was assessed with the Q-test and I(2) statistics. The data for this meta-analysis were available from 35 case-control studies. The prenatal and postnatal maternal smoking was associated with a significantly increased risk of SIDS (OR=2.25, 95% CI=2.03-2.50 for prenatal maternal smoking analysis, and OR=1.97, 95% CI=1.77-2.19 for postnatal maternal smoking analysis, respectively) by random effects model. After stratified analyses, regardless of prenatal or postnatal smoking, heavy cigarette consumption increased the risk of SIDS and significantly elevated SIDS risk was found to be associated with co-sleeping with postnatal smoking mothers. Our results suggested that maternal smoking were associated with elevated SIDS risk, the effects were dose-dependent. In addition, SIDS risk was significantly increased in infants co-sleeping with postnatal smoking mothers.

  18. Medullary Serotonin Neuron Abnormalities in an Australian Cohort of Sudden Infant Death Syndrome.

    PubMed

    Bright, Fiona M; Byard, Roger W; Vink, Robert; Paterson, David S

    2017-10-01

    Serotonin (5-hydroxytryptamine [5-HT]) neurons in the medulla oblongata project extensively to key autonomic and respiratory nuclei in the brainstem and spinal cord regulating critical homeostatic functions. Multiple abnormalities in markers of 5-HT function in the medulla in sudden infant death syndrome (SIDS) have been reported, informing the hypothesis that at least a subset of SIDS cases is caused by deficits in 5-HT function resulting in impaired homeostatic responses to potentially life-threatening events during sleep. To investigate medullary 5-HT defects in SIDS further, we undertook qualitative analysis immunohistochemical assessment of 5-HT neuron expression within the medulla of SIDS infants (n41) and nonSIDS controls (n = 28) in an independent cohort from Forensic Science South Australia. Compared with controls SIDS cases had significantly higher 5-HT neuron numbers and density in addition to significantly altered 5-HT neuron morphology. Thus, for the first time, we replicated and corroborated previous observations of a significant abnormality in medullary 5-HT neuron expression in SIDS in a separate independent SIDS cohort. This study further supports the hypothesis that medullary 5-HT defects contribute to the pathogenesis of a subset of SIDS victims and provides additional evidence of a more complex abnormality in 5-HT neuron dysfunction specifically within the different caudal and rostral medullary 5-HT domains. © 2017 American Association of Neuropathologists, Inc. All rights reserved.

  19. Narratives of deprivation: Women's life stories around Maori sudden infant death syndrome.

    PubMed

    McManus, Verne; Abel, Sally; McCreanor, Tim; Tipene-Leach, David

    2010-08-01

    Maori babies in Aotearoa/New Zealand die of Sudden Infant Death Syndrome (SIDS) at over five times the rate of their non-Maori peers. Research and health promotion around modifiable risk factors has produced only a small improvement in this situation since the mid-1990s. This paper reports on life story interviews, conducted between 2002 and 2004, with nineteen mothers of Maori infants who have died of SIDS. Potential participants were identified and accessed with the support of the national Maori SIDS Prevention Programme care-workers, in both urban and rural locations throughout both main islands of New Zealand. The paper articulates, in a thematic fashion, the bereaved mothers' experiences of alienation, marginalisation and exclusion, as a testimony of lives lived under conditions of serious deprivation in an affluent society. Constructing these experiences as non-modifiable risk factors hinders the development of policy and health promotion interventions that could improve the conditions in which Maori mothers live and raise their babies. It is argued that new approaches that target those whose lives are described here and build on the WHO Social Determinants of Health framework are vital to the efforts of New Zealanders to attain health equity and stem the tide of devastating and preventable loss of Maori babies to SIDS. Copyright 2010. Published by Elsevier Ltd.

  20. Decreased GABAA receptor binding in the medullary serotonergic system in the sudden infant death syndrome.

    PubMed

    Broadbelt, Kevin G; Paterson, David S; Belliveau, Richard A; Trachtenberg, Felicia L; Haas, Elisabeth A; Stanley, Christina; Krous, Henry F; Kinney, Hannah C

    2011-09-01

    γ-Aminobutyric acid (GABA) neurons in the medulla oblongata help regulate homeostasis, in part through interactions with the medullary serotonergic (5-HT) system. Previously, we reported abnormalities in multiple 5-HT markers in the medullary 5-HT system of infants dying from sudden infant death syndrome (SIDS), suggesting that 5-HT dysfunction is involved in its pathogenesis. Here, we tested the hypothesis that markers of GABAA receptors are decreased in the medullary 5-HT system in SIDS cases compared with controls. Using tissue receptor autoradiography with the radioligand H-GABA, we found 25% to 52% reductions in GABAA receptor binding density in 7 of 10 key nuclei sampled of the medullary 5-HT system in the SIDS cases (postconceptional age [PCA] = 51.7 ± 8.3, n = 28) versus age-adjusted controls (PCA = 55.3 ± 13.5, n = 8) (p ≤ 0.04). By Western blotting, there was 46.2% reduction in GABAAα3 subunit levels in the gigantocellularis (component of the medullary 5-HT system) of SIDS cases (PCA = 53.9 ± 8.4, n = 24) versus controls (PCA = 55.3 ± 8.3, n = 8) (56.8% standard in SIDS cases vs 99.35% in controls; p = 0.026). These data suggest that medullary GABAA receptors are abnormal in SIDS infants and that SIDS is a complex disorder of a homeostatic network in the medulla that involves deficits of the GABAergic and 5-HT systems.

  1. Beatquency domain and machine learning improve prediction of cardiovascular death after acute coronary syndrome

    PubMed Central

    Liu, Yun; Scirica, Benjamin M.; Stultz, Collin M.; Guttag, John V.

    2016-01-01

    Frequency domain measures of heart rate variability (HRV) are associated with adverse events after a myocardial infarction. However, patterns in the traditional frequency domain (measured in Hz, or cycles per second) may capture different cardiac phenomena at different heart rates. An alternative is to consider frequency with respect to heartbeats, or beatquency. We compared the use of frequency and beatquency domains to predict patient risk after an acute coronary syndrome. We then determined whether machine learning could further improve the predictive performance. We first evaluated the use of pre-defined frequency and beatquency bands in a clinical trial dataset (N = 2302) for the HRV risk measure LF/HF (the ratio of low frequency to high frequency power). Relative to frequency, beatquency improved the ability of LF/HF to predict cardiovascular death within one year (Area Under the Curve, or AUC, of 0.730 vs. 0.704, p < 0.001). Next, we used machine learning to learn frequency and beatquency bands with optimal predictive power, which further improved the AUC for beatquency to 0.753 (p < 0.001), but not for frequency. Results in additional validation datasets (N = 2255 and N = 765) were similar. Our results suggest that beatquency and machine learning provide valuable tools in physiological studies of HRV. PMID:27708350

  2. Beatquency domain and machine learning improve prediction of cardiovascular death after acute coronary syndrome.

    PubMed

    Liu, Yun; Scirica, Benjamin M; Stultz, Collin M; Guttag, John V

    2016-10-06

    Frequency domain measures of heart rate variability (HRV) are associated with adverse events after a myocardial infarction. However, patterns in the traditional frequency domain (measured in Hz, or cycles per second) may capture different cardiac phenomena at different heart rates. An alternative is to consider frequency with respect to heartbeats, or beatquency. We compared the use of frequency and beatquency domains to predict patient risk after an acute coronary syndrome. We then determined whether machine learning could further improve the predictive performance. We first evaluated the use of pre-defined frequency and beatquency bands in a clinical trial dataset (N = 2302) for the HRV risk measure LF/HF (the ratio of low frequency to high frequency power). Relative to frequency, beatquency improved the ability of LF/HF to predict cardiovascular death within one year (Area Under the Curve, or AUC, of 0.730 vs. 0.704, p < 0.001). Next, we used machine learning to learn frequency and beatquency bands with optimal predictive power, which further improved the AUC for beatquency to 0.753 (p < 0.001), but not for frequency. Results in additional validation datasets (N = 2255 and N = 765) were similar. Our results suggest that beatquency and machine learning provide valuable tools in physiological studies of HRV.

  3. Heritability of sudden death syndrome and its associated correlations to ascites and body weight in broilers.

    PubMed

    Moghadam, H K; McMillan, I; Chambers, J R; Julian, R J; Tranchant, C C

    2005-02-01

    (1) Genetic parameters for the sudden death syndrome (SDS) were estimated in meat-type chickens. Data were collected over 11 generations of selection for body weight within two distinct breeds (Cornish and White Rock). (2) The animal model was used exclusively with linear methods (LM) to estimate genetic parameters. Heritability (h2) of SDS on the liability scale was 0.30 +/- 0.002 and 0.25 +/- 0.002 in the Cornish and White Rock breeds, respectively. (3) A positive genetic correlation (r(g)) with ascites (AS) was determined (approximately 0.3 +/- 0.006). However, it was not possible to estimate the rg of SDS with body weight because of the low prevalence of the defect trait studied (1.8% in the Cornish and 1-5% in the White Rock). (4) Heritability of SDS calculated using male records only was 0.45 +/- 0.009 and 0.35 +/- 0.009, and r(g) with body weight was 0.30 +/- 0.010 and 0.27 +/- 0.009, in the Cornish and White Rock breeds, respectively. (5) In conclusion, the heart defect investigated was heritable with a positive genetic correlation with AS and body weight.

  4. Breast feeding and the sudden infant death syndrome in Scandinavia, 1992–95

    PubMed Central

    Alm, B; Wennergren, G; Norvenius, S; Skjaerven, R; Lagercrantz, H; Helweg-Larsen, K; Irgens, L

    2002-01-01

    Aims: To assess the effects of breast feeding habits on sudden infant death syndrome (SIDS). Methods: The analyses are based on data from the Nordic Epidemiological SIDS Study, a case–control study in which parents of SIDS victims in the Scandinavian countries between 1 September 1992 and 31 August 1995 were invited to participate, each with parents of four matched controls. The odds ratios presented were computed by conditional logistic regression analysis. Results: After adjustment for smoking during pregnancy, paternal employment, sleeping position, and age of the infant, the adjusted odds ratio (95% CI) was 5.1 (2.3 to 11.2) if the infant was exclusively breast fed for less than four weeks, 3.7 (1.6 to 8.4) for 4–7 weeks, 1.6 (0.7 to 3.6) for 8–11 weeks, and 2.8 (1.2 to 6.8) for 12–15 weeks, with exclusive breast feeding over 16 weeks as the reference. Mixed feeding in the first week post partum did not increase the risk. Conclusions: The study is supportive of a weak relation between breast feeding and SIDS reduction. PMID:12023166

  5. Gut Microbiota and Immunity: Possible Role in Sudden Infant Death Syndrome

    PubMed Central

    Goldwater, Paul N.

    2015-01-01

    The gut microbiome influences the development of the immune system of young mammals; the establishment of a normal gut microbiome is thought to be important for the health of the infant during its early development. As the role of bacteria in the causation of sudden infant death syndrome (SIDS) is backed by strong evidence, the balance between host immunity and potential bacterial pathogens is likely to be pivotal. Bacterial colonization of the infant colon is influenced by age, mode of delivery, diet, environment, and antibiotic exposure. The gut microbiome influences several systems including gut integrity and development of the immune system; therefore, gut microflora could be important in protection against bacteria and/or their toxins identified in SIDS infants. The aims of the review are to explore (1) the role of the gut microbiome in relation to the developmentally critical period in which most SIDS cases occur; (2) the mechanisms by which the gut microbiome might induce inflammation resulting in transit of bacteria from the lumen into the bloodstream; and (3) assessment of the clinical, physiological, pathological, and microbiological evidence for bacteremia leading to the final events in SIDS pathogenesis. PMID:26089821

  6. Alpha2 receptor binding in the medulla oblongata in the sudden infant death syndrome.

    PubMed

    Mansouri, J; Panigrahy, A; Filiano, J J; Sleeper, L A; St John, W M; Kinney, H C

    2001-02-01

    The sudden infant death syndrome (SIDS) is the leading cause of postnatal infant mortality in the United States. Its etiology remains unknown. We propose that SIDS, or a subset of SIDS, is due to a failure of autoresuscitation, a protective brainstem response to asphyxia or hypoxia, in a vulnerable infant during a critical developmental period. Gasping is an important component of autoresuscitation that is thought to be mediated by the "gasping center" in the lateral tegmentum of the medulla, a region homologous in its cytoarchitecture and chemical anatomy to the intermediate reticular zone (IRZ) in the human. Since we found that [3H]para-aminoclonidine ([3H]PAC) binding to alpha2-adrenergic receptors localizes to this region in human infants and, thereby provides a neurochemical marker for it, we tested the hypothesis that [3H]PAC binding to alpha2-adrenergic receptors is decreased in the IRZ in SIDS victims. Using quantitative tissue autoradiography with [3H]PAC as the radioligand and phentolamine as the displacer, we analyzed alpha2-receptor binding density in the IRZ, as well as in 7 additional sites for comparison, in 10 SIDS and 10 control medullae. There were no significant differences in alpha2 receptor binding in the IRZ, vagal nuclei, or other medullary sites examined between SIDS and control cases. These results suggest that the putative gasping defect in the IRZ in SIDS victims is not related to [3H]PAC binding to alpha2-adrenergic receptors.

  7. Childhood Nephrotic Syndrome Management and Outcome: A Single Center Retrospective Analysis

    PubMed Central

    Yan, Jia; Palmer, Robert; Bost, James; Wolf, Mattie Feasel; Greenbaum, Larry A.

    2017-01-01

    There is a paucity of information on outpatient management and risk factors for hospitalization and complications in childhood nephrotic syndrome (NS). We described the management, patient adherence, and inpatient and outpatient usage of 87 pediatric NS patients diagnosed between 2006 and 2012 in the Atlanta Metropolitan Statistical Area. Multivariable analyses were performed to examine the associations between patient characteristics and disease outcome. We found that 51% of the patients were treated with two or more immunosuppressants. Approximately half of the patients were noted to be nonadherent to medications and urine protein monitoring. The majority (71%) of patients were hospitalized at least once, with a median rate of 0.5 hospitalizations per patient year. Mean hospital length of stay was 4.0 (3.8) days. Fourteen percent of patients experienced at least one serious disease complication. Black race, frequently relapsing/steroid-dependent and steroid-resistant disease, and the first year following diagnosis were associated with higher hospitalization rates. The presence of comorbidities was associated with longer hospital length of stay and increased risk of serious disease complications. Our results highlight the high morbidity and burden of NS and point to particular patient subgroups that may be at increased risk for poor outcome. PMID:28326197

  8. Less efficient and costly processes of frontal cortex in childhood chronic fatigue syndrome

    PubMed Central

    Mizuno, Kei; Tanaka, Masaaki; Tanabe, Hiroki C.; Joudoi, Takako; Kawatani, Junko; Shigihara, Yoshihito; Tomoda, Akemi; Miike, Teruhisa; Imai-Matsumura, Kyoko; Sadato, Norihiro; Watanabe, Yasuyoshi

    2015-01-01

    The ability to divide one's attention deteriorates in patients with childhood chronic fatigue syndrome (CCFS). We conducted a study using a dual verbal task to assess allocation of attentional resources to two simultaneous activities (picking out vowels and reading for story comprehension) and functional magnetic resonance imaging. Patients exhibited a much larger area of activation, recruiting additional frontal areas. The right middle frontal gyrus (MFG), which is included in the dorsolateral prefrontal cortex, of CCFS patients was specifically activated in both the single and dual tasks; this activation level was positively correlated with motivation scores for the tasks and accuracy of story comprehension. In addition, in patients, the dorsal anterior cingulate gyrus (dACC) and left MFG were activated only in the dual task, and activation levels of the dACC and left MFG were positively associated with the motivation and fatigue scores, respectively. Patients with CCFS exhibited a wider area of activated frontal regions related to attentional resources in order to increase their poorer task performance with massive mental effort. This is likely to be less efficient and costly in terms of energy requirements. It seems to be related to the pathophysiology of patients with CCFS and to cause a vicious cycle of further increases in fatigue. PMID:26594619

  9. Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

    PubMed

    Marignier, Stéphanie; Lesca, Gaetan; Marguin, Jessica; Bussy, Gérald; Sanlaville, Damien; des Portes, Vincent

    2012-06-01

    We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies.

  10. Altered microstructure within social-cognitive brain networks during childhood in Williams syndrome.

    PubMed

    Haas, Brian W; Barnea-Goraly, Naama; Sheau, Kristen E; Yamagata, Bun; Ullas, Shruti; Reiss, Allan L

    2014-10-01

    Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of ∼26-28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  11. Altered Microstructure Within Social-Cognitive Brain Networks During Childhood in Williams Syndrome

    PubMed Central

    Haas, Brian W.; Barnea-Goraly, Naama; Sheau, Kristen E.; Yamagata, Bun; Ullas, Shruti; Reiss, Allan L.

    2014-01-01

    Williams syndrome (WS) is a neurodevelopmental condition caused by a hemizygous deletion of ∼26–28 genes on chromosome 7q11.23. WS is associated with a distinctive pattern of social cognition. Accordingly, neuroimaging studies show that WS is associated with structural alterations of key brain regions involved in social cognition during adulthood. However, very little is currently known regarding the neuroanatomical structure of social cognitive brain networks during childhood in WS. This study used diffusion tensor imaging to investigate the structural integrity of a specific set of white matter pathways (inferior fronto-occipital fasciculus [IFOF] and uncinate fasciculus [UF]) and associated brain regions [fusiform gyrus (FG), amygdala, hippocampus, medial orbitofrontal gyrus (MOG)] known to be involved in social cognition in children with WS and a typically developing (TD) control group. Children with WS exhibited higher fractional anisotropy (FA) and axial diffusivity values and lower radial diffusivity and apparent diffusion coefficient (ADC) values within the IFOF and UF, higher FA values within the FG, amygdala, and hippocampus and lower ADC values within the FG and MOG compared to controls. These findings provide evidence that the WS genetic deletion affects the development of key white matter pathways and brain regions important for social cognition. PMID:23709644

  12. Less efficient and costly processes of frontal cortex in childhood chronic fatigue syndrome.

    PubMed

    Mizuno, Kei; Tanaka, Masaaki; Tanabe, Hiroki C; Joudoi, Takako; Kawatani, Junko; Shigihara, Yoshihito; Tomoda, Akemi; Miike, Teruhisa; Imai-Matsumura, Kyoko; Sadato, Norihiro; Watanabe, Yasuyoshi

    2015-01-01

    The ability to divide one's attention deteriorates in patients with childhood chronic fatigue syndrome (CCFS). We conducted a study using a dual verbal task to assess allocation of attentional resources to two simultaneous activities (picking out vowels and reading for story comprehension) and functional magnetic resonance imaging. Patients exhibited a much larger area of activation, recruiting additional frontal areas. The right middle frontal gyrus (MFG), which is included in the dorsolateral prefrontal cortex, of CCFS patients was specifically activated in both the single and dual tasks; this activation level was positively correlated with motivation scores for the tasks and accuracy of story comprehension. In addition, in patients, the dorsal anterior cingulate gyrus (dACC) and left MFG were activated only in the dual task, and activation levels of the dACC and left MFG were positively associated with the motivation and fatigue scores, respectively. Patients with CCFS exhibited a wider area of activated frontal regions related to attentional resources in order to increase their poorer task performance with massive mental effort. This is likely to be less efficient and costly in terms of energy requirements. It seems to be related to the pathophysiology of patients with CCFS and to cause a vicious cycle of further increases in fatigue.

  13. Childhood predictors of written expression in late adolescents with 22q11.2 deletion syndrome: a longitudinal study.

    PubMed

    Hamsho, N; Antshel, K M; Eckert, T L; Kates, W R

    2017-05-01

    22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that can impact an individual's overall academic performance, potentially resulting in increased levels of stress and exacerbation of psychiatric symptoms. A total of 119 participants were included in this study. Sixty-nine late adolescents with 22q11DS and 50 controls (consisting of a combined sample of 23 unaffected siblings of youth with 22q11DS and 27 community controls) participated in a 6-year longitudinal research project and received neuropsychological test batteries every 3 years. The Written Expression subtest of the Wechsler Individual Achievement Test - Second Edition was the primary outcome measure in the current project. Findings indicated differences in childhood predictors of adolescent written expression between participants in the 22q11DS group and participants in the control group. Whereas childhood verbal IQ scores predicted adolescent written expression for participants in the control group, childhood executive function and language skills were unique predictors of adolescent written expression in individuals with 22q11DS. Childhood predictors of late adolescent written expression in 22q11DS differ in meaningful ways from predictors in the non-22q11DS population. These results offer some guidance on the underlying factors that may be useful to consider when developing written expression interventions for children with 22q11DS. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  14. EKG pattern of Brugada syndrome and sudden infant death syndrome--is it time to review the diagnostic criteria? Case report and review of literature.

    PubMed

    Franco, Emiliana; Dias, Andre; Teresa, Daniele; Hebert, Kathy

    2014-03-01

    Brugada Syndrome (BrS) is a cardiac disorder characterized by incomplete right bundle-branch block and ST elevations in the anterior precordial leads especially V1 -V3 , associated with an increased risk for sudden cardiac death (SCD) in young adults. Our case describes a patient with family history of sudden infant death syndrome (SIDS) who presented with a Brugada pattern unmasked by severe hyperkalemia and diabetic ketoacidosis. Several studies have concluded there may be a genetic link among SIDS, SDC, and BrS resulting from mutations in cardiac ion channel-related genes. Recognizing SIDS as part of the diagnostic criteria for BrS would help us identifying a significant number of families susceptible to develop SCD (as well as SIDS). ©2013 Wiley Periodicals, Inc.

  15. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome

    PubMed Central

    Nováková, Michaela; Žaliová, Markéta; Suková, Martina; Wlodarski, Marcin; Janda, Aleš; Froňková, Eva; Campr, Vít; Lejhancová, Kateřina; Zapletal, Ondřej; Pospíšilová, Dagmar; Černá, Zdeňka; Kuhn, Tomáš; Švec, Peter; Pelková, Vendula; Zemanová, Zuzana; Kerndrup, Gitte; van den Heuvel-Eibrink, Marry; van der Velden, Vincent; Niemeyer, Charlotte; Kalina, Tomáš; Trka, Jan; Starý, Jan; Hrušák, Ondřej; Mejstříková, Ester

    2016-01-01

    GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells). PMID:27013649

  16. Effects of early childhood trauma on hypothalamic-pituitary-adrenal (HPA) axis function in patients with Chronic Fatigue Syndrome.

    PubMed

    Kempke, Stefan; Luyten, Patrick; De Coninck, Sarah; Van Houdenhove, Boudewijn; Mayes, Linda C; Claes, Stephan

    2015-02-01

    There is a paucity of studies that have investigated the assumption that early childhood trauma is associated with hypothalamic-pituitary-adrenal (HPA) axis dysfunction in Chronic Fatigue Syndrome (CFS). The current study is the first to simultaneously investigate relationships among early childhood trauma, cortisol activity, and cortisol stress reactivity to psychosocial stress in a sample of well-screened CFS patients. We also examined whether self-critical perfectionism (SCP) plays a mediating role in the potential relationship between early trauma and neurobiological stress responses. A total of 40 female patients diagnosed with CFS were asked to provide morning saliva cortisol samples (after awakening, 30min later, and 1h later) for seven consecutive days as a measure of cortisol activity. In addition, patients were exposed to the Trier Social Stress Test, a well-validated stress test, to investigate the relationship between early childhood trauma and cortisol stress reactivity. Before the start of the study, patients completed the Childhood Trauma Questionnaire-Short form (CTQ-SF) as a measure of early childhood trauma (i.e. sexual, physical and emotional traumatic experiences). SCP was measured with the Depressive Experiences Questionnaire (DEQ). Data were analyzed by calculating several indices of cortisol secretion (i.e. Cortisol Awakening Response and Area Under the Curve). There was no association between early childhood trauma and cortisol as measured over the 7-day period. However, emotional neglect was significantly negatively related to cortisol reactivity in the TSST. SCP did not significantly mediate this association. Findings of this study suggest that emotional neglect is associated with blunted HPA axis reactivity, congruent with the assumption that CFS may reflect loss of adaptability of the neuroendocrine stress response system in at least a subgroup of patients. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. A mouse model to study the link between hypoxia, long QT interval and sudden infant death syndrome.

    PubMed

    Neary, Marianne T; Mohun, Timothy J; Breckenridge, Ross A

    2013-03-01

    The pathology of sudden infant death syndrome (SIDS) is poorly understood. Many risk factors, including hypoxia, have been identified. Prolongation of the ECG QTc interval is associated with elevated risk of SIDS but its aetiology in most cases remains unknown. We have characterised ECG changes in the newborn mouse in the hours and days following birth. There was a steady increase in heart rate alongside significant decreases in QTc interval, QRS duration and QTc dispersion over the first 10 postnatal days. Birth into hypoxia (10% FiO2) prevented electrocardiac maturation, downregulated cardiac ion-channel expression and led to neonatal death. We found that risk of death decreased with increasing age of exposure to hypoxia. Genetic elevation of cardiac hypoxia-signalling after birth in αMHC-Cre::VHL(fl/fl) mice also prevented electrocardiographic maturation, leading to arrhythmia and death before weaning. Immunohistochemistry and western blotting revealed internalisation and dephosphorylation of Connexin43. We conclude that increased ambient oxygen concentration after birth drives maturation of the cardiac electrical conduction system, failure of which leads to aberrant ion channel and Connexin43 expression and predisposes to arrhythmia and sudden death. This is consistent with known risk factors of SIDS and provides a link between neonatal hypoxia, ECG abnormalities and sudden death.

  18. The extent and distribution of inequalities in childhood mortality by cause of death according to parental socioeconomic positions: a birth cohort study in South Korea.

    PubMed

    Kim, Jongoh; Son, Mia; Kawachi, Ichiro; Oh, Juhwan

    2009-10-01

    It has been shown that childhood mortality is affected by parental socioeconomic positions; in this article, we investigate the extent and distribution of inequalities across major causes of childhood death. We built a retrospective birth cohort using individually linked national birth and death records in South Korea. 1,329,540 children were followed up to exact age eight from 1995 to 1996 and total observed person-years were 10,594,168.18. Causes of death were identified from death records while parental education, occupation and birth characteristics were identified from birth records. Survival analysis was performed according to parental socioeconomic positions. Cox proportional hazard analysis was done according to parental education and occupation with adjustment of birth characteristics such as sex, parental age, gestational age, birth weight, multiple birth, the number of total births, and previous death of children. Cumulative incidence of mortality by age was obtained through a competing-risk method in each cause according to maternal education. From these results, distribution of inequalities across major causes of death was calculated. In total, 7018 deaths occurred during the eight years and mortality rate was 66.24 per 100,000 person-years. External cause was the most common cause of death followed by congenital malformations, nervous system diseases, perinatal diseases, cancer, respiratory, cardiovascular, infectious and gastrointestinal diseases. For all-cause mortality, hazard ratios (HR) were 1.98 (95% CI: 1.83-2.13) for paternal education, 1.90 (1.75-2.07) for maternal education, 1.40 (1.33-1.47) for paternal occupation and 2.33(1.98-2.73) for maternal occupation (between middle school graduation or lower and university or more for education, between manual and non-manual for occupation). Mortality differentials were found in every cause of death. External cause, respiratory, cardiovascular and infectious diseases showed larger HR than all

  19. Exploration of Death Anxiety as a Function of Religious Variables in Gay Men with and without AIDS.

    ERIC Educational Resources Information Center

    Franks, Kent; And Others

    1991-01-01

    Investigated relationship of religious variables to death anxiety in 51 homosexual men with Acquired Immune Deficiency Syndrome (AIDS) and 64 homosexual men without AIDS. Found higher death anxiety in men with AIDS associated with greater church attendance, belonging to religion of childhood, citing religion to have been harmful, and not adhering…

  20. A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death

    PubMed Central

    Sauer, Charles W.; Marc-Aurele, Krishelle L.

    2016-01-01

    Patient: Female, 19-day Final Diagnosis: 19 day old neonate with susceptibility to Long QT syndrome • ventricular fibrillation Symptoms: Cardiac arrest • cardiac arrhythmia • encephalopathy Medication: — Clinical Procedure: Cardioversion Specialty: Pediatrics and Neonatology Objective: Rare disease Background: This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. Case Report: A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. Conclusions: We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby. PMID:27465075

  1. The dorsal motor nucleus of the vagus (DMNV) in sudden infant death syndrome (SIDS): pathways leading to apoptosis.

    PubMed

    Bejjani, Charbel; Machaalani, Rita; Waters, Karen A

    2013-01-15

    Sudden infant death syndrome (SIDS) remains the commonest cause of death in the post-neonatal period in the developed world. A leading hypothesis is that an abnormality in the brainstem of infants who succumb to SIDS, either causes or predisposes to failure to respond appropriately to an exogenous stressor. Neuronal apoptosis can lead to loss of cardiorespiratory reflexes, compromise of the infant's ability to respond to stressors such as hypoxia, and ultimately a sleep-related death. The dorsal motor nucleus of the vagus (DMNV) is a medullary autonomic nucleus where abnormalities have regularly been identified in SIDS research. This review collates neurochemical findings documented over the last 30 years, including data from our laboratory focusing on neuronal apoptosis and the DMNV, and provides potential therapeutic interventions targeting neurotransmitters, growth factors and/or genes.

  2. [Modifiable risk factors of sudden infant death syndrome (SIDS). The current guidelines for reducing the risk of SIDS].

    PubMed

    Wasilewska, Jolanta; Kaczmarski, Maciej

    2009-01-01

    Sudden Infant Death Syndrome (SIDS) is a subgroup of unexpected infant deaths that occur during the postneonatal period with relatively consistent clinical, epidemiological, and pathological features. SIDS remains the major cause of death in infants aged between 1 week and 1 year in western countries. While many SIDS risk factors have been and continue to be identified, the diagnosis remains one of exclusion--the definition of SIDS requires a negative history as well as a negative autopsy result. Epidemiological studies have led to the definition of populations with an increased risk for SIDS: prematurely born infants with perinatal risk factors, subsequent siblings of SIDS victims, ALTE infants (10%). Avoidable risk factors such as those associated with inappropriate infants' sleeping position, type of bedding used and sleeping arrangements strongly suggest a basis for further substantial reductions in SIDS incidence rates. The current guidelines for reducing the risk of SIDS are presented.

  3. Usefulness of bone marrow transplantation in the Hurler syndrome.

    PubMed

    Braunlin, Elizabeth A; Stauffer, Nanci R; Peters, Charles H; Bass, John L; Berry, James M; Hopwood, John J; Krivit, William

    2003-10-01

    The Hurler syndrome, an autosomal recessive storage disease of childhood, leads to death within the first decade of life from progressive deposition of glycosaminoglycans within the myointima of the coronary arteries and airways. Cardiac ultrasound findings of patients with this syndrome >10 years after successful bone marrow transplantation are described.

  4. Bed sharing among black infants and sudden infant death syndrome: interactions with other known risk factors.

    PubMed

    Fu, Linda Y; Moon, Rachel Y; Hauck, Fern R

    2010-01-01

    Bed sharing has been associated with sudden infant death syndrome (SIDS) and may contribute to the racial disparity seen in infant mortality. It is unclear how bed sharing interacts with other factors to impact SIDS risk. We aimed to measure the effects of bed sharing on risk of SIDS in blacks and to determine whether the risk is modified by other characteristics of the sleep environment. Characteristics of 195 black infants who died of SIDS were compared with matched controls. The moderating influence of known SIDS risk factors on the effect of bed sharing on risk of SIDS was examined using logistic regression. Almost half (47.4%) of the study population bed shared during the last/reference sleep (58% cases and 37% controls). Bed sharing was associated with 2 times greater risk of SIDS compared with not bed sharing. The deleterious effect of bed sharing was more pronounced with a soft sleep surface, pillow use, maternal smoking, and younger infant age. However, bed sharing was still associated with an increased risk of SIDS, even when the infant was not using a pillow or sleeping on a firm surface. The strongest predictors of SIDS among bed-sharing infants were soft sleep surface, nonuse of a pacifier, and maternal smoking during pregnancy. Bed sharing is a common practice among black infants. It is associated with a clear and strong increased risk of SIDS, which is even greater when combined with other known risk factors for SIDS. This practice likely contributes to the excess incidence of SIDS among blacks, and culturally competent education methods must be developed to target this high-risk group. Copyright © 2010 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  5. Infant sleep location: associated maternal and infant characteristics with sudden infant death syndrome prevention recommendations.

    PubMed

    Fu, Linda Y; Colson, Eve R; Corwin, Michael J; Moon, Rachel Y

    2008-10-01

    To identify factors associated with infant sleep location. Demographic information and infant care practices were assessed for 708 mothers of infants ages 0 to 8 months at Women, Infants and Children centers. Generalized linear latent mixed models were constructed for the outcome, sleeping arrangement last night (room-sharing without bed-sharing versus bed-sharing, and room-sharing without bed-sharing versus sleeping in separate rooms). Two-thirds of the mothers were African-American. A total of 48.6% mothers room-shared without bed-sharing, 32.5% bed-shared, and 18.9% slept in separate rooms. Compared with infants who slept in separate rooms, infants who room-shared without bed-sharing were more likely to be Hispanic (odds ratio [OR], 2.58, 95% CI 1.11-5.98) and younger (3.66- and 1.74-times more likely for infants 0-1 month old and 2-3 months old, respectively, as compared with older infants). Compared with infants who bed-shared, infants who room-shared without bed-sharing were more likely to be 0 to 1 month old (OR, 1.57; 95% CI, 1.05-2.35) and less likely to be African-American (OR, 0.43; 95% CI, 0.26-0.70) or have a teenage mother (OR, 0.37; 95% CI, 0.23-0.58). Approximately one-third of mothers and infants bed-share, despite increased risk of sudden infant death syndrome (SIDS). The factors associated with bed-sharing are also associated with SIDS, likely rendering infants with these characteristics at high risk for SIDS.

  6. Breastfeeding and reduced risk of sudden infant death syndrome: a meta-analysis.

    PubMed

    Hauck, Fern R; Thompson, John M D; Tanabe, Kawai O; Moon, Rachel Y; Vennemann, Mechtild M

    2011-07-01

    Benefits of breastfeeding include lower risk of postneonatal mortality. However, it is unclear whether breastfeeding specifically lowers sudden infant death syndrome (SIDS) risk, because study results have been conflicting. To perform a meta-analysis to measure the association between breastfeeding and SIDS. We identified 288 studies with data on breastfeeding and SIDS through a Medline search (1966-2009), review articles, and meta-analyses. Twenty-four original case-control studies were identified that provided data on the relationship between breastfeeding and SIDS risk. Two teams of 2 reviewers evaluated study quality according to preset criteria; 6 studies were excluded, which resulted in 18 studies for analysis. Univariable and multivariable odds ratios were extracted. A summary odds ratio (SOR) was calculated for the odds ratios by using the fixed-effect and random-effect inverse-variance methods of meta-analysis. The Breslow-Day test for heterogeneity was performed. For infants who received any amount of breast milk for any duration, the univariable SOR was 0.40 (95% confidence interval [CI]: 0.35-0.44), and the multivariable SOR was 0.55 (95% CI: 0.44-0.69). For any breastfeeding at 2 months of age or older, the univariable SOR was 0.38 (95% CI: 0.27-0.54). The univariable SOR for exclusive breastfeeding of any duration was 0.27 (95% CI: 0.24-0.31). Breastfeeding is protective against SIDS, and this effect is stronger when breastfeeding is exclusive. The recommendation to breastfeed infants should be included with other SIDS risk-reduction messages to both reduce the risk of SIDS and promote breastfeeding for its many other infant and maternal health benefits. Copyright © 2011 by the American Academy of Pediatrics.

  7. Ambient Temperature and Sudden Infant Death Syndrome in the United States.

    PubMed

    Jhun, Iny; Mata, Douglas A; Nordio, Francesco; Lee, Mihye; Schwartz, Joel; Zanobetti, Antonella

    2017-09-01

    Sudden infant death syndrome (SIDS) is a leading cause of infant mortality in the United States. While thermal stress is implicated in many risk factors for SIDS, the association between ambient temperature and SIDS remains unclear. We obtained daily individual-level infant mortality data and outdoor temperature data from 1972 to 2006 for 210 US cities. We applied a time-stratified case-crossover analysis to determine the effect of ambient temperature on the risk of SIDS by season. We stratified the analysis by race, infant age, and climate. There were a total of 60,364 SIDS cases during our study period. A 5.6°C (10°F) higher daily temperature on the same day was associated with an increased SIDS risk of 8.6% (95% confidence interval [CI] = 3.6%, 13.8%) in the summer, compared with a 3.1% decrease (95% CI = -5.0%, -1.3%) in the winter. Summer risks were greater among black infants (18.5%; 95% CI = 9.3%, 28.5%) than white infants (3.6%; 95% CI = -2.3%, 9.9%), and among infants 3-11 months old (16.9%; 95% CI = 8.9%, 25.5%) than infants 0-2 months old (2.7%; 95% CI = -3.5%, 9.2%). The temperature-SIDS association was stronger in climate clusters in the Midwest and surrounding northern regions. Temperature increases were associated with an elevated risk of SIDS in the summer, particularly among infants who were black, 3 months old and older, and living in the Midwest and surrounding northern regions.

  8. Low cerebrospinal fluid hypocretin levels during sudden infant death syndrome (SIDS) risk period.

    PubMed

    Lancien, Marion; Inocente, Clara Odilia; Dauvilliers, Yves; Kugener, Beatrice; Scholz, Sabine; Raverot, Veronique; Lin, Jian-Sheng; Guyon, Aurore; Gustin, Marie-Paule; Franco, Patricia

    2017-05-01

    The temporal association between sudden infant death syndrome (SIDS) and sleep suggests that the arousability from sleep provides a protective mechanism for survival. Recently, the hypocretin system, which promotes wakefulness, has been implicated in SIDS, since it has been reported that SIDS victims have fewer hypocretin neurons than infants who have died from other causes. To understand the role of hypocretin in SIDS, it is essential to better understand how this system matures. The present study compared cerebrospinal fluid (CSF) hypocretin in children aged 2-6 months, which is the age of peak incidence for SIDS, to both younger and older children. Hypocretin levels were measured in CSF samples from 101 children who underwent a clinically relevant lumbar puncture. Children were separated into five age groups: 0-2 months, 2-6 months, 1-5 years, 5-10 years, and 10-18 years. Hypocretin levels were not significantly different between 1-5 years, 5-10 years, and 10-18 years. Therefore, these three groups were pooled into a single one (1-18 years) for further analysis. Between the 0-2 month, 2-6 month, and 1-18 year groups, a significant difference in CSF hypocretin levels existed (p = 0.001). Simple comparisons showed that CSF hypocretin levels in the 2-6 month age group were significantly lower than hypocretin levels in both the 0-2 month and 1-18 year group (p < 0.001 and p = 0.008, respectively), but not significantly between 0-2 month and 1-18 year children. The CSF hypocretin levels were lower at the age of peak incidence for SIDS. This could underlie an increased vulnerability to SIDS at this specific age. Copyright © 2017. Published by Elsevier B.V.

  9. Altered placental development in pregnancies resulting in sudden infant death syndrome (SIDS).

    PubMed

    Widdows, Kate; O'Malley, Aiveen; O'Neill, Bill; Kingdom, John; Gillan, John; Ansari, Tahera

    2012-10-01

    Sudden infant death syndrome (SIDS) is postulated to be a developmental disorder originating during fetal life in utero. Knowledge regarding the intrauterine environment in which SIDS infants develop is, however, inadequate and how the placenta develops prior to a SIDS event has not been studied. To investigate the morphological development of the placenta obtained from full-term infants who subsequently succumbed to SIDS. To estimate the percentage and total volumes of the chorionic villi and villous trophoblast membrane using stereological techniques. Placentas were obtained retrospectively from normal birthweight (SIDS-NBW n=18) and small-for-gestational age (SIDS-SGA, n=14) infants who had succumbed to SIDS, and compared to either control (n=8) or SGA placentas (n=7), respectively. SIDS-NBW placentas displayed evidence of augmented villous growth shown by significantly greater volumes of placental chorionic villi (gas-exchanging (GE) villi) in comparison to controls; this was not observed for SIDS-SGA placentas. However, both SIDS-NBW and SIDS-SGA placentas displayed significantly greater volumes of the cytotrophoblast (CT) (SIDS-NBW only), syncytiotrophoblast (SIDS-SGA only) and syncytial knots (SCT-K) and those displaying apoptotic syncytial nuclei (AP SCT-K). In contrast, SGA placentas displayed significantly reduced volumes of chorionic villi, GE villi and the villous trophoblast indicating a SIDS-specific effect associated with augmented placental growth. Our findings provide initial evidence that placental abnormality, although not necessarily causative, may precede a subset of SIDS cases supporting the hypothesis that the origins of SIDS begin during fetal life in utero. Copyright © 2012 Elsevier Ltd. All rights reserved.

  10. Sudden infant death syndrome: a re-examination of temporal trends

    PubMed Central

    2012-01-01

    Background While the reduction in infants’ prone sleeping has led to a temporal decline in Sudden Infant Death Syndrome (SIDS), some aspects of this trend remain unexplained. We assessed whether changes in the gestational age distribution of births also contributed to the temporal reduction in SIDS. Methods SIDS patterns among singleton and twin births in the United States were analysed in 1995–96 and 2004–05. The temporal reduction in SIDS was partitioned using the Kitagawa decomposition method into reductions due to changes in the gestational age distribution and reductions due to changes in gestational age-specific SIDS rates. Both the traditional and the fetuses-at-risk models were used. Results SIDS rates declined with increasing gestation under the traditional perinatal model. Rates were higher at early gestation among singletons compared with twins, while the reverse was true at later gestation. Under the fetuses-at-risk model, SIDS rates increased with increasing gestation and twins had higher rates of SIDS than singletons at all gestational ages. Between 1995–96 and 2004–05, SIDS declined from 8.3 to 5.6 per 10,000 live births among singletons and from 14.2 to 10.6 per 10,000 live births among twins. Decomposition using the traditional model showed that the SIDS reduction among singletons and twins was entirely due to changes in the gestational age-specific SIDS rate. The fetuses-at-risk model attributed 45% of the SIDS reduction to changes in the gestational age distribution and 55% of the reduction to changes in gestational age-specific SIDS rates among singletons; among twins these proportions were 64% and 36%, respectively. Conclusion Changes in the gestational age distribution may have contributed to the recent temporal reduction in SIDS. PMID:22747916

  11. Decreased orexin (hypocretin) immunoreactivity in the hypothalamus and pontine nuclei in sudden infant death syndrome.

    PubMed

    Hunt, Nicholas J; Waters, Karen A; Rodriguez, Michael L; Machaalani, Rita

    2015-08-01

    Infants at risk of sudden infant death syndrome (SIDS) have been shown to have dysfunctional sleep and poor arousal thresholds. In animal studies, both these attributes have been linked to impaired signalling of the neuropeptide orexin. This study examined the immunoreactivity of orexin (OxA and OxB) in the tuberal hypothalamus (n = 27) and the pons (n = 15) of infants (1-10 months) who died from SIDS compared to age-matched non-SIDS infants. The percentage of orexin immunoreactive neurons and the total number of neurons were quantified in the dorsomedial, perifornical and lateral hypothalamus at three levels of the tuberal hypothalamus. In the pons, the area of orexin immunoreactive fibres were quantified in the locus coeruleus (LC), dorsal raphe (DR), laterodorsal tegmental (LDT), medial parabrachial, dorsal tegmental (DTg) and pontine nuclei (Pn) using automated methods. OxA and OxB were co-expressed in all hypothalamic and pontine nuclei examined. In SIDS infants, orexin immunoreactivity was decreased by up to 21 % within each of the three levels of the hypothalamus compared to non-SIDS (p ≤ 0.050). In the pons, a 40-50 % decrease in OxA occurred in the all pontine nuclei, while a similar decrease in OxB immunoreactivity was observed in the LC, LDT, DTg and Pn (p ≤ 0.025). No correlations were found between the decreased orexin immunoreactivity and previously identified risk factors for SIDS, including prone sleeping position and cigarette smoke exposure. This finding of reduced orexin immunoreactivity in SIDS infants may be associated with sleep dysfunction and impaired arousal.

  12. Sudden Infant Death Syndrome-Associated Mutations in the Sodium Channel Beta Subunits

    PubMed Central

    Tan, Bi-Hua; Pundi, Kavitha N; Van Norstrand, David W; Valdivia, Carmen R; Tester, David J; Medeiros-Domingo, Argelia; Makielski, Jonathan C.; Ackerman, Michael J.

    2010-01-01

    Background Approximately 10% of sudden infant death syndrome (SIDS) may stem from potentially lethal cardiac channelopathies, with approximately half of channelopathic SIDS involving the NaV1.5 cardiac sodium channel. Recently, NaV beta subunits have been implicated in various cardiac arrhythmias. Thus, the four genes encoding NaV beta subunits represent plausible candidate genes for SIDS. Objective To determine the spectrum, prevalence and functional consequences of sodium channel beta subunit mutations in a SIDS cohort. Methods In this IRB-approved study, mutational analysis of the 4 beta subunit genes: SCN1B – 4B was performed using PCR, DHPLC, and direct DNA sequencing of DNA derived from 292 SIDS cases. Engineered mutations were co-expressed with SCN5A in HEK 293 cells, and whole cell patch clamped. One of the putative SIDS-associated mutations was similarly studied in adenovirally transduced adult rat ventricular myocytes. Results 3 rare (absent in 200–800 reference alleles) missense mutations (β3-V36M, β3-V54G and β4-S206L) were identified in 3/292 SIDS cases. Compared to SCN5A+β3-WT, β3-V36M significantly decreased peak INa and increased late INa while β3-V54G resulted in a marked loss-of-function. β4-S206L accentuated late INa and positively shifted the midpoint of inactivation compared to SCN5A+β4-WT. In native cardiomyocytes, β4-S206L accentuated late INa and increased the ventricular action potential duration (APD) compared to β4-WT. Conclusion This study provides the first molecular and functional evidence to implicate the NaV beta subunits in SIDS pathogenesis. Altered NaV1.5 sodium channel function due to beta subunit mutations may account for the molecular pathogenic mechanism underlying approximately 1% of SIDS. PMID:20226894

  13. Formative evaluation to improve prevention of sudden infant death syndrome (SIDS): a prospective study.

    PubMed

    D'Halluin, Amélie Ryckewaert; Roussey, Michel; Branger, Bernard; Venisse, Anne; Pladys, Patrick

    2011-10-01

    To evaluate formative evaluation, a pedagogic method that sensitizes mothers to sudden infant death syndrome (SIDS), as a new way to improve prevention of SIDS. Prospective and randomized study. Mothers in a test group (n = 148) received an educative questionnaire about SIDS during maternity stay. Three months later, we evaluated, by a telephonic interview, their scores of knowledge and observance of the recommendations in comparison with a control group (n = 144). Mothers' scores at the educative questionnaire was 5.12 (1.52) [mean(standard deviation)]. The scores performed 3 months later were better in test group for knowledge [7.64 (1.56) vs. 7.16 (1.61), p < 0.01] and for observance [8.28 (1.51) vs. 7.62 (1.72), p < 0.001]. Logistic regression analysis confirmed the benefits in test group regarding knowledge of SIDS risk factors [ORa = 1.69 (1.02-2.77), p < 0.05], of the advice to avoid overheating infants [ORa = 2.50 (1.43-4.38), p < 0.01] and of the risks of bed sharing [ORa = 2.7 (1.6-4.5), p < 0.001]. There was a signific