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Sample records for death syndrome childhood

  1. 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…

  2. [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

  3. [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.

  4. 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.

  5. Sudden infant death syndrome

    MedlinePlus

    Crib death; SIDS ... However, SIDS is still a major cause of death in infants under 1 year old. Thousands of ... affects boys more often than girls. Most SIDS deaths occur in the winter. The following may increase ...

  6. 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.

  7. [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…

  8. 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.

  9. [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.

  10. Sudden Infant Death Syndrome (SIDS) and Vaccines

    MedlinePlus

    ... this? Submit What's this? Submit Button Sudden Infant Death Syndrome (SIDS) Recommend on Facebook Tweet Share Compartir ... an international network of vaccine safety experts. SIDS deaths declined due to recommendations to put infants on ...

  11. 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…

  12. 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 ...

  13. 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

  14. 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)

  15. 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.

  16. 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

  17. 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.

  18. 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

  19. 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.

  20. Childhood cancers in families with and without Lynch syndrome

    PubMed Central

    Heath, John A.; Reece, Jeanette C.; Buchanan, Daniel D.; Casey, Graham; Durno, Carol A.; Gallinger, Steven; Haile, Robert W.; Newcomb, Polly A.; Potter, John D.; Thibodeau, Stephen N.; Le Marchand, Loïc; Lindor, Noralane M.; Hopper, John L.; Jenkins, Mark A.; Win, Aung Ko

    2015-01-01

    Background Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Materials and Methods Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-proficient colorectal cancer (non-Lynch syndrome families). Results There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24 %) and non-Lynch syndrome families (179/94,302; 0.19 %; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95 % CI 107–206) per million population per year in Lynch syndrome families and 115 (95 % CI 99.1–134) per million population per year in non-Lynch syndrome families. There was no evidence for a substantial increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families. Conclusion The risk of childhood cancers does not appear to be significantly increased in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families. PMID:25963852

  1. 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

  2. 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…

  3. 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.

  4. 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…

  5. 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.

  6. 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

  7. 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.

  8. 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 ...

  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. 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…

  12. 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…

  13. 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,…

  14. 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

  15. 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…

  16. 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

  17. 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.

  18. 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.

  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. 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.

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

    PubMed

    Chumpitazi, Bruno P; Shulman, Robert J

    2016-12-01

    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, gut microbiota, psychosocial distress, gut inflammation, bile acids, food intolerance, colonic bacterial fermentation, and genetics. The molecular and cellular mechanisms of these factors are being actively investigated. In this mini-review, we present updates of these mechanisms and, where possible, relate the findings to childhood IBS. Mechanistic elucidation may lead to the identification of biomarkers as well as personalized childhood IBS therapies.

  2. 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:…

  3. 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.

  4. 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.

  5. 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

  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. Detection of sudden death syndrome using a multispectral imaging sensor

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  8. 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.

  9. 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…

  10. [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.

  11. 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.

  12. 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.…

  13. 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

  14. 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.

  15. 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.

  16. 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.…

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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

  5. 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.

  6. [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.

  7. 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.

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. [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.

  20. 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

  1. 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.

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. 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…

  7. 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.

  8. 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.

  9. 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

  10. 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…

  11. 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…

  12. 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.

  13. 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.

  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. 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

  17. 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).

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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)

  4. 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).

  5. 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…

  6. 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…

  7. 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…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  9. 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

  10. [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.

  11. 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.

  12. 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.

  13. 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…

  14. 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

  15. 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

  16. 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.

  17. 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)

  18. [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.

  19. 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.

  20. 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…

  1. 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.

  2. 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.

  3. [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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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

  9. 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

  10. 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…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  12. 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…

  13. 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…

  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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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 ...

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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...

  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. 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…

  1. 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

  2. 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.

  3. 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.

  4. 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

  5. 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.

  6. 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…

  7. 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.

  8. 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

  9. 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.

  10. 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.

  11. [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.

  12. 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

  13. 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

  14. [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.

  15. 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

  16. 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.

  17. 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.

  18. The relationships of attachment style and social maladjustment to death ideation in depressed women with a history of childhood sexual abuse.

    PubMed

    Smith, Phillip N; Gamble, Stephanie A; Cort, Natalie A; Ward, Erin A; Conwell, Yeates; Talbot, Nancy L

    2012-01-01

    The current study examined the interaction of attachment orientation and acute social maladjustment as risk factors for death ideation in a sample of women with Major Depression and histories of childhood sexual abuse. Social maladjustment was associated with greater endorsement of death ideation. Avoidant and anxious attachment orientations moderated the social maladjustment and death ideation associations in some domains. Work-related maladjustment was associated with greater odds of death ideation for those with higher attachment avoidance. Parent-role maladjustment was associated with greater odds of death ideation for those with lower attachment anxiety. Findings demonstrate strong associations between death ideation and social maladjustment, and suggest that death ideation may be specific to certain domains of adjustment for anxious and avoidant attachment styles.

  19. 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.

  20. 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.

  1. 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.

  2. 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

  3. 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.

  4. 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

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. [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.

  10. 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

  11. 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…

  12. [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.

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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)

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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.

  11. 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.

  12. 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.

  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. 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

  15. 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

  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. 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.

  18. 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

  19. 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

  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. Benign acute childhood myositis complicating influenza B infection in a boy with idiopathic nephrotic syndrome

    PubMed Central

    Przychodzień, Joanna; Pańczyk-Tomaszewska, Małgorzata

    2016-01-01

    Introduction Benign acute childhood myositis (BACM) is an acute complication of an infection characterized by calf pain, limitation of lower limb mobility, an increase in serum creatine kinase, and a self-limiting course. No reports of BACM in children with idiopathic nephrotic syndrome (INS) can be found in the literature. Case report A 5-year-old boy with steroid-sensitive INS presented with fever, leg pain, and problems with walking. Physical examination showed pharyngeal erythema, preserved movements in all joints, and weakness of leg muscles. Laboratory tests showed white blood cell count 3900/µl, albumin 2.3 g/dl, urea 25 mg/dl, creatinine 0.3 mg/dl, increased transaminases (AspAT 440 U/l, AlAT 100 U/l) and creatine kinase (10 817 U/l), and proteinuria 3500 mg/dl. The boy was diagnosed with an INS bout and BACM. Testing for infective causes of myositis showed evidence of an influenza B virus infection. Treatment included prednisone and oseltamivir. A rapid improvement of motor function was observed, with normalization of serum creatine kinase and transaminases, and resolution of proteinuria. Conclusions 1. As influenza virus infection in a child with INS is a risk factor for complications and a disease bout, these patients should be vaccinated against influenza. 2. Differential diagnosis of leg pain and mobility limitation in a child with INS should include lower limb deep venous thrombosis, arthritis, post-infectious neurological complications (including Guillain-Barré syndrome), and BACM. 3. Serum creatine kinase level should be measured in all cases of motor disturbances in a child with symptoms of respiratory tract infection. PMID:27833453

  2. 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

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. 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

  9. 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.

  10. 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

  11. 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

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. 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.

  1. 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

  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. 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

  4. 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.

  5. 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.

  6. Low putamen activity associated with poor reward sensitivity in childhood chronic fatigue syndrome.

    PubMed

    Mizuno, Kei; Kawatani, Junko; Tajima, Kanako; Sasaki, Akihiro T; Yoneda, Tetsuya; Komi, Masanori; Hirai, Toshinori; Tomoda, Akemi; Joudoi, Takako; Watanabe, Yasuyoshi

    2016-01-01

    Motivational signals influence a wide variety of cognitive processes and components of behavioral performance. Cognitive dysfunction in patients with childhood chronic fatigue syndrome (CCFS) may be closely associated with a low motivation to learn induced by impaired neural reward processing. However, the extent to which reward processing is impaired in CCFS patients is unclear. The aim of the present functional magnetic resonance imaging (fMRI) study was to determine whether brain activity in regions related to reward sensitivity is impaired in CCFS patients. fMRI data were collected from 13 CCFS patients (mean age, 13.6 ± 1.0 years) and 13 healthy children and adolescents (HCA) (mean age, 13.7 ± 1.3 years) performing a monetary reward task. Neural activity in high- and low-monetary-reward conditions was compared between CCFS and HCA groups. Severity of fatigue and the reward obtained from learning in daily life were evaluated by questionnaires. Activity of the putamen was lower in the CCFS group than in the HCA group in the low-reward condition, but not in the high-reward condition. Activity of the putamen in the low-reward condition in CCFS patients was negatively and positively correlated with severity of fatigue and the reward from learning in daily life, respectively. We previously revealed that motivation to learn was correlated with striatal activity, particularly the neural activity in the putamen. This suggests that in CCFS patients low putamen activity, associated with altered dopaminergic function, decreases reward sensitivity and lowers motivation to learn.

  7. Thimerosal-Preserved Hepatitis B Vaccine and Hyperkinetic Syndrome of Childhood

    PubMed Central

    Geier, David A.; Kern, Janet K.; Hooker, Brian S.; Sykes, Lisa K.; Geier, Mark R.

    2016-01-01

    (1) Background: Hyperkinetic syndrome of childhood (HKSoC) is an International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9) category in which the majority of the children are also diagnosed under the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition, Text Revision (DSM-IV-TR), where the umbrella term is “Attention-Deficit and Disruptive Behavior Disorders”. The diagnostic criteria for HKSoC are developmentally inappropriate inattention, hyperactivity, and impulsivity. Some studies have implicated mercury (Hg) exposure as a risk factor. (2) Methods: This hypothesis testing study; using the Vaccine Safety Datalink; assessed the toxicological effects of bolus exposure to organic-Hg from Thimerosal-containing vaccines (TCVs) by examining the relationship between Thimerosal-preserved hepatitis B vaccines (TM-HepB) given at varying levels and at specific intervals in the first six months after birth and the risk of a child being diagnosed with HKSoC. (3) Results: Children diagnosed with HKSoC were significantly more likely to be exposed to increased organic-Hg from TM-HepB doses given within the first month (odds ratio = 1.45; 95% confidence interval (CI) = 1.30–1.62); within the first two months (odds ratio = 1.43; 95% CI = 1.28–1.59); and within the first six months (odds ratio = 4.51; 95% CI = 3.04–6.71) than controls. (4) Conclusion: The results indicate that increasing organic-Hg exposure from TCVs heightens the risk of a HKSoC diagnosis. PMID:26999226

  8. Clinical practice guideline: diagnosis and management of childhood obstructive sleep apnea syndrome.

    PubMed

    2002-04-01

    This clinical practice guideline, intended for use by primary care clinicians, provides recommendations for the diagnosis and management of obstructive sleep apnea syndrome (OSAS). The Section on Pediatric Pulmonology of the American Academy of Pediatrics selected a subcommittee composed of pediatricians and other experts in the fields of pulmonology and otolaryngology as well as experts from epidemiology and pediatric practice to develop an evidence base of literature on this topic. The resulting evidence report was used to formulate recommendations for the diagnosis and management of childhood OSAS. The guideline contains the following recommendations for the diagnosis of OSAS: 1) all children should be screened for snoring; 2) complex high-risk patients should be referred to a specialist; 3) patients with cardiorespiratory failure cannot await elective evaluation; 4) diagnostic evaluation is useful in discriminating between primary snoring and OSAS, the gold standard being polysomnography; 5) adenotonsillectomy is the first line of treatment for most children, and continuous positive airway pressure is an option for those who are not candidates for surgery or do not respond to surgery; 6) high-risk patients should be monitored as inpatients postoperatively; 7) patients should be reevaluated postoperatively to determine whether additional treatment is required. This clinical practice guideline is not intended as a sole source of guidance in the evaluation of children with OSAS. Rather, it is designed to assist primary care clinicians by providing a framework for diagnostic decision-making. It is not intended to replace clinical judgment or to establish a protocol for all children with this condition and may not provide the only appropriate approach to this problem.

  9. The CAST (Childhood Asperger Syndrome Test): preliminary development of a UK screen for mainstream primary-school-age children.

    PubMed

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

    2002-03-01

    The article describes a pilot and follow-up study of the preliminary development of a new tool to screen for Asperger syndrome (AS) and related social and communication conditions (the Childhood Asperger Syndrome Test, CAST) in children aged 4-11 years, in a non-clinical setting. In the pilot study, parents of 13 children with AS and of 37 typically developing children completed the CAST. There were significant differences between the AS and typical sample means. The pilot was used to establish preliminary cut-off scores for the CAST. In the main study, parents of 1150 primary-school-age children were sent the CAST, and 174 took part in the full data analysis. Results suggest that compared with other tools currently available, the CAST may be useful for identifying children at risk for AS and related conditions, in a mainstream non-clinical sample. Further research is ongoing.

  10. 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

  11. 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.

  12. The Genome Sequence of the Fungal Pathogen Fusarium virguliforme That Causes Sudden Death Syndrome in Soybean

    PubMed Central

    Srivastava, Subodh K.; Huang, Xiaoqiu; Brar, Hargeet K.; Fakhoury, Ahmad M.; Bluhm, Burton H.; Bhattacharyya, Madan K.

    2014-01-01

    Fusarium virguliforme causes sudden death syndrome (SDS) of soybean, a disease of serious concern throughout most of the soybean producing regions of the world. Despite the global importance, little is known about the pathogenesis mechanisms of F. virguliforme. Thus, we applied Next-Generation DNA Sequencing to reveal the draft F. virguliforme genome sequence and identified putative pathogenicity genes to facilitate discovering the mechanisms used by the pathogen to cause this disease. Methodology/Principal Findings We have generated the draft genome sequence of F. virguliforme by conducting whole-genome shotgun sequencing on a 454 GS-FLX Titanium sequencer. Initially, single-end reads of a 400-bp shotgun library were assembled using the PCAP program. Paired end sequences from 3 and 20 Kb DNA fragments and approximately 100 Kb inserts of 1,400 BAC clones were used to generate the assembled genome. The assembled genome sequence was 51 Mb. The N50 scaffold number was 11 with an N50 Scaffold length of 1,263 Kb. The AUGUSTUS gene prediction program predicted 14,845 putative genes, which were annotated with Pfam and GO databases. Gene distributions were uniform in all but one of the major scaffolds. Phylogenic analyses revealed that F. virguliforme was closely related to the pea pathogen, Nectria haematococca. Of the 14,845 F. virguliforme genes, 11,043 were conserved among five Fusarium species: F. virguliforme, F. graminearum, F. verticillioides, F. oxysporum and N. haematococca; and 1,332 F. virguliforme-specific genes, which may include pathogenicity genes. Additionally, searches for candidate F. virguliforme pathogenicity genes using gene sequences of the pathogen-host interaction database identified 358 genes. Conclusions The F. virguliforme genome sequence and putative pathogenicity genes presented here will facilitate identification of pathogenicity mechanisms involved in SDS development. Together, these resources will expedite our efforts towards discovering

  13. [Sleeping position to prevent sudden infant death syndrome in Latin-american and Caribbean hospitals].

    PubMed

    Cafferata Mf, M feminine L; Althabe, F; Belizán, J M; Cowan, S; Nelson, E A S

    2002-12-01

    Background The prone sleeping position for sleeping has been identified as the principal risk factor for sudden infant death syndrome (SIDS).ObjectiveThe aim of this study was to determine the prevalence of different sleeping positions and other risk factors for SIDS and to identify the advice given to parents in several maternity units in Latin America and the Caribbean through a specially-designed questionnaire.MethodsDescriptive cross-sectional study based in hospitals. All the countries in Latin America and the Caribbean were contacted through the Pan American Health Organization and responses were obtained from 16 countries.ResultsTwo hundred thirteen hospitals answered the survey. The preferred sleeping position for healthy infants was prone in 8.5 % of the hospitals, side in 48.8 %, and supine in 25.2 %. In 17.5 % of the hospitals no position was preferred or the answers were inconsistent.Concerning the recommendations given to parents on the best position for their infants at home, 25.7 % recommended the supine position, 7.6 % the prone position, 59.0 % the side position while 7.6 % made no recommendations.ConclusionsThe results of this study show that in the hospitals surveyed there is a policy of not placing healthy neonates in the prone position. However, the most frequent position was the side, which is not advisable as it increases the risk of SIDS. To reduce in the incidence of SIDS, campaigns to increase the use of the supine position should be carried out in hospitals and among the general public.

  14. Possibility of separating toxins from bacteria associated with sudden infant death syndrome using anion exchange chromatography.

    PubMed Central

    Drucker, D B; Aluyi, H A; Morris, J A; Telford, D R; Oppenheim, B A; Crawley, B A

    1992-01-01

    AIMS: To develop techniques for the characterisation of toxins elaborated by a strain of Escherichia coli associated with sudden infant death syndrome (SIDS). METHODS: E coli SIDS 04, isolated from the nasopharynx of a case of SIDS, was studied. Cell-free toxin preparations were standardised, their protein measured, and analytical separation of proteins achieved using sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). Acetone precipitation of proteins was required prior to Coomassie blue staining of bands. Preparative separation was achieved on an anion exchange column using a programmed concentration gradient of NaCl in TRIS buffer. Fractions were tested individually or pooled for presence of lethal toxin including endotoxin. Lethal toxin was detected with the chick embryo test system. Endotoxin was measured using a chromogenic modification of the Limulus amoebocyte assay. RESULTS: Twenty one peaks were detected by chromatography. Ten individual, or pooled, fractions were assayed for endotoxin which ranged from 27-33 pg/ml. Much greater variation was found when the same fractions were assayed in chick embryos. E coli fractions varied considerably in lethal toxicity, from 0/10 to 10/10 chick embryos killed/tested. Certain E coli fractions tested individually (lethality four out of 10 to eight out of 10) proved more lethal (10 out of 10) if pooled prior to testing. CONCLUSIONS: In E coli infection associated with SIDS relatively low concentrations of extracellular protein are lethally toxigenic for the chick embryo model of SIDS. These proteins can be separated analytically by SDS-PAGE and preparatively by anion exchange chromatography. Toxicity of individual fractions is not correlated with endotoxin concentrations in samples tested. PMID:1401212

  15. Decreased GABAA Receptor Binding in the Medullary Serotonergic System In the Sudden Infant Death Syndrome

    PubMed Central

    Broadbelt, Kevin G.; Paterson, David S.; Belliveau, Richard A.; Trachtenberg, Felicia L.; Haas, Elisabeth A.; Stanley, Christina; Krous, Henry F.; Kinney, Hannah C.

    2011-01-01

    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 to controls. Using tissue receptor autoradiography with the radioligand 3H-GABA, we found 25–52% 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) vs. 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) vs. 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. PMID:21865888

  16. Verbal autopsy: an analysis of the common causes of childhood death in the Barekese sub-district of Ghana

    PubMed Central

    Manortey, Stephen; Carey, Adrienne; Ansong, Daniel; Harvey, Ryan; Good, Brian; Boaheng, Joseph; Crookston, Benjamin; Dickerson, Ty

    2011-01-01

    The availability of mortality data for any society plays an essential role in health monitoring and evaluation, as well as in the design of health interventions. However, most resource-poor countries such as Ghana have no reliable vital registration system. In these instances, verbal autopsy (VA) may be used as an alternative method to gather mortality data. In rural Ghana, the research team utilized a VA questionnaire to interview caretakers who were present with a child under the age of five prior to death. The data was given to two physicians who independently assigned the most probable cause of death for the child. A third, blinded physician analyzed the data in the cases where the first two physicians disagreed. When there was agreement between physicians, this was assigned as the cause of death for the individual child. During the study period, we recorded 118 deaths from 92 households. Twenty-nine (24.6%) were neonatal deaths with the leading causes of death being neonatal sepsis, birth asphyxia and pneumonia. The remaining 89 (75.4%) were post-neonatal deaths with the most common causes of death being pneumonia, malaria and malnutrition. While 63/118 (53.4%) deaths occurred in the home, there is no statistically significant relationship between the location of the home and the time of travel to the nearest health facility (P=0.132). VA is an important epidemiological tool for obtaining mortality data in communities that lack reliable vital registration systems. Improvement in health care is necessary to address the large number of deaths occurring in the home. PMID:28299059

  17. Divergent Effects of Glucocorticoids on Cortical and Trabecular Compartment BMD in Childhood Nephrotic Syndrome

    PubMed Central

    Wetzsteon, Rachel J; Shults, Justine; Zemel, Babette S; Gupta, Pooja U; Burnham, Jon M; Herskovitz, Rita M; Howard, Krista M; Leonard, Mary B

    2009-01-01

    Glucocorticoid (GC) effects on skeletal development have not been established. The objective of this pQCT study was to assess volumetric BMD (vBMD) and cortical dimensions in childhood steroid-sensitive nephrotic syndrome (SSNS), a disorder with minimal independent deleterious skeletal effects. Tibia pQCT was used to assess trabecular and cortical vBMD, cortical dimensions, and muscle area in 55 SSNS (age, 5–19 yr) and >650 control participants. Race-, sex-, and age-, or tibia length–specific Z-scores were generated for pQCT outcomes. Bone biomarkers included bone-specific alkaline phosphatase and urinary deoxypyridinoline. SSNS participants had lower height Z-scores (p < 0.0001) compared with controls. In SSNS, Z-scores for cortical area were greater (+0.37; 95% CI = 0.09, 0.66; p = 0.01), for cortical vBMD were greater (+1.17; 95% CI = 0.89, 1.45; p < 0.0001), and for trabecular vBMD were lower (−0.60; 95% CI, = −0.89, −0.31; p < 0.0001) compared with controls. Muscle area (+0.34; 95% CI = 0.08, 0.61; p = 0.01) and fat area (+0.56; 95% CI = 0.27, 0.84; p < 0.001) Z-scores were greater in SSNS, and adjustment for muscle area eliminated the greater cortical area in SSNS. Bone formation and resorption biomarkers were significantly and inversely associated with cortical vBMD in SSNS and controls and were significantly lower in the 34 SSNS participants taking GCs at the time of the study compared with controls. In conclusion, GCs in SSNS were associated with significantly greater cortical vBMD and cortical area and lower trabecular vBMD, with evidence of low bone turnover. Lower bone biomarkers were associated with greater cortical vBMD. Studies are needed to determine the fracture implications of these varied effects. PMID:19016583

  18. GLUCOCORTICOID EFFECTS ON CHANGES IN BONE MINERAL DENSITY AND CORTICAL STRUCTURE IN CHILDHOOD NEPHROTIC SYNDROME

    PubMed Central

    Tsampalieros, Anne; Gupta, Pooja; Denburg, Michelle R; Shults, Justine; Zemel, Babette S; Mostoufi-Moab, Sogol; Wetzsteon, Rachel J; Herskovitz, Rita M; Whitehead, Krista M; Leonard, Mary B.

    2012-01-01

    The impact of glucocorticoids (GC) on skeletal development has not been established. The objective of this study was to examine changes in volumetric BMD (vBMD) and cortical structure over one year in childhood nephrotic syndrome (NS) and to identify associations with concurrent GC exposure and growth. Fifty-six NS participants, ages 5–21 years, were enrolled a median of 4.3 (0.5, 8.1) years after diagnosis. Tibia peripheral quantitative CT (pQCT) scans were obtained at enrollment and 6 and 12 months later. Sex, race and age-specific Z-scores were generated for trabecular vBMD (TrabBMD-Z), cortical vBMD (CortBMD-Z), and cortical area (CortArea-Z) based on > 650 reference participants. CortArea-Z was further adjusted for tibia length-for-age Z-score. Quasi-least squares regression was used to identify determinants of changes in pQCT Z-scores. At enrollment, mean TrabBMD-Z (−0.54 ±1.32) was significantly lower (p=0.0001) and CortBMD-Z (0.73 ± 1.16, p<0.0001) and CortArea-Z (0.27 ± 0.91, p=0.03) significantly greater in NS, vs. reference participants, as previously described. Forty-eight (86%) participants were treated with GC over the study interval (median dose 0.29 mg/kg/day). On average, TrabBMD-Z and CortBMD-Z did not change significantly over the study interval; however, CortArea-Z decreased (p=0.003). Greater GC dose (p<0.001), lesser increases in tibia length (p<0.001) and lesser increases in CortArea-Z (p=0.003) were independently associated with greater increases in CortBMD-Z. Greater increases in tibia length were associated with greater declines in CortArea-Z (p < 0.01); this association was absent in reference participants (interaction p<0.02). In conclusion, GC therapy was associated with increases in CortBMD-Z, potentially related to suppressed bone formation and greater secondary mineralization. Conversely, greater growth and expansion of CortArea-Z (i.e. new bone formation) were associated with declines in CortBMD-Z. Greater linear growth was

  19. Causes of death in patients ≥75 years of age with non-ST-segment elevation acute coronary syndrome.

    PubMed

    Morici, Nuccia; Savonitto, Stefano; Murena, Ernesto; Antonicelli, Roberto; Piovaccari, Giancarlo; Tucci, Daniele; Tamburino, Corrado; Fontanelli, Alessandro; Bolognese, Leonardo; Menozzi, Mila; Cavallini, Claudio; Petronio, Anna Sonia; Ambrosio, Giuseppe; Piscione, Federico; Steffenino, Giuseppe; De Servi, Stefano

    2013-07-01

    The causes of death within 1 year of hospital admission in patients with non-ST-segment elevation acute coronary syndromes are ill defined, particularly in patients aged ≥75 years. From January 2008 through May 2010, we enrolled 645 patients aged ≥75 years with non-ST-segment elevation acute coronary syndromes: 313 in a randomized trial comparing an early aggressive versus an initially conservative approach, and 332, excluded from the trial for specific reasons, in a parallel registry. Each death occurring during 1 year of follow-up was adjudicated by an independent committee. The mean age was 82 years in both study cohorts, and 53% were men. By the end of the follow-up period (median 369 days, interquartile range 345 to 391), 120 patients (18.6%) had died. The mortality was significantly greater in the registry (23.8% vs 13.1%, p = 0.001). The deaths were classified as cardiac in 94% of the cases during the index admission and 68% of the cases during the follow-up period. Eighty-six percent of the cardiac deaths were of ischemic origin. In a multivariate logistic regression model that included the variables present on admission in the whole study population, the ejection fraction (hazard ratio 0.95, 95% confidence interval 0.94 to 0.97; p <0.001), hemoglobin level (hazard ratio 0.85, 95% confidence interval 0.76 to 0.94; p = 0.001), older age (hazard ratio 1.05, 95% confidence interval 1.01 to 1.10, p = 0.010), and creatinine clearance (hazard ratio 0.99, 95% confidence interval 0.97 to 0.99; p = 0.030) were the independent predictors of all-cause death at 1 year. In conclusion, within 1 year after admission for non-ST-segment elevation acute coronary syndromes, most deaths in patients aged ≥75 years have a cardiac origin, mostly owing to myocardial ischemia.

  20. Characteristics and Factors Associated with Death among Patients Hospitalized for Severe Fever with Thrombocytopenia Syndrome, South Korea, 2013.

    PubMed

    Shin, Jaeseung; Kwon, Donghyok; Youn, Seung-Ki; Park, Ji-Hyuk

    2015-10-01

    In South Korea, nationwide surveillance for severe fever with thrombocytopenia syndrome (SFTS) began during 2013. Among 301 surveillance cases, 35 hospitalized case-patients in 25 areas were confirmed by using virologic testing, and 16 (46%) case-patients subsequently died. The SFTS cases occurred during May-November and peaked during June (9 cases, 26%). The incidence of SFTS was higher in the southern regions of South Korea. Age and neurologic symptoms, including decreased level of consciousness and slurred speech, were heavily associated with death; neurologic symptoms during the first week after disease onset were also associated with death. Although melena was common among patients who died, no other hemorrhagic manifestations were substantively more common among those who died. No effective treatments, including ribavirin, were identified. Expansion of SFTS surveillance to include the outpatient sector and development of an antibody test would enhance completeness of SFTS detection in South Korea.

  1. Life and death of a child with down syndrome and a congenital heart condition: experiences of six couples.

    PubMed

    Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances

    2010-12-01

    Individuals with Down syndrome are at increased risk of congenital heart conditions (CHCs), and mortality is higher in people with Down syndrome and a CHC than those without (J. C. Vis et al., 2009). As a consequence, parents of children with Down syndrome and a CHC are more likely to outlive their child. In this research, semistructured interviews were used to explore the experiences of 6 couples whose child with Down syndrome and a CHC had died. The interviews were analyzed qualitatively using interpretative phenomenological analysis (IPA), and 4 themes emerged: dilemmas associated with the dual diagnosis; treatment decisions during the life and the death of their child ("We had to make a decision"); ways couples coped when bereaved ("We weren't really going through it together"); and ripples from the child's life. There was a high degree of similarity of experience within couples. Differences between couples existed in their experiences of coping and supporting each other. Practical implications include the importance of considering the specific needs of couples, individuals, and fathers within partnerships.

  2. Animal Models for Assessment of Infection and Inflammation: Contributions to Elucidating the Pathophysiology of Sudden Infant Death Syndrome

    PubMed Central

    Blood-Siegfried, Jane

    2015-01-01

    Sudden infant death syndrome (SIDS) is still not well understood. It is defined as the sudden and unexpected death of an infant without a definitive cause. There are numerous hypotheses about the etiology of SIDS but the exact cause or causes have never been pinpointed. Examination of theoretical pathologies might only be possible in animal models. Development of these models requires consideration of the environmental and/or developmental risk factors often associated with SIDS, as they need to explain how the risk factors could contribute to the cause of death. These models were initially developed in common laboratory animals to test various hypotheses to explain these infant deaths – guinea pig, piglet, mouse, neonatal rabbit, and neonatal rat. Currently, there are growing numbers of researchers using genetically altered animals to examine specific areas of interest. This review describes the different systems and models developed to examine the diverse hypotheses for the cause of SIDS and their potential for defining a causal mechanism or mechanisms. PMID:25870597

  3. A Neonate with Susceptibility to Long QT Syndrome Type 6 who Presented with Ventricular Fibrillation and Sudden Unexpected Infant Death.

    PubMed

    Sauer, Charles W; Marc-Aurele, Krishelle L

    2016-07-28

    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.

  4. Ontogeny of Polycystic Ovary Syndrome and Insulin Resistance In Utero and Early Childhood

    PubMed Central

    Abbott, David H; Bacha, Fida

    2013-01-01

    PCOS is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman’s lifetime risk of type 2 DM. It is heritable and intensely familial. Progress towards a cure has been delayed by absence of an etiology. Evidence is mounting, however, for in utero T excess, together with gestational hyperglycemia, contributing to either early differentiation of PCOS or phenotypic amplification of its genotypes. Abnormal endocrine, ovarian and hyperinsulinemia traits are detectable as early as 2-months of age in daughters of women with PCOS, with adiposity enhancement of hyperinsulinemia during childhood potentially contributing to hyperandrogenism and LH excess by adolescence. These findings encourage increasing clinical focus on early childhood markers for adiposity and hyperinsulinemia accompanying ovarian and adrenal endocrine abnormalities that precede a diagnosable PCOS phenotype. They raise the possibility for lifestyle or therapeutic intervention prior to and during pregnancy or during childhood and adolescence alleviating the manifestations of a familial genetic predisposition to PCOS. PMID:23809624

  5. A Multicenter Experience from Lebanon in Childhood and Adolescent Acute Myeloid Leukemia: High rate of Early Death in Childhood Acute Promyelocytic Leukemia

    PubMed Central

    Farah, Roula A.; Horkos, Jessy G.; Bustros, Youssef D.; Farhat, Hussein Z.; Abla, Oussama

    2015-01-01

    Background Acute myeloid leukemia (AML) is a disease with marked heterogeneity. Despite major improvement in outcome, it remains a life-threatening malignancy. Demographic and clinical data on pediatric AML is lacking among the Lebanese population. Purpose We aimed to identify clinical, molecular and outcome data in children with AML in Lebanon. Methods A retrospective chart review of children with AML diagnosed in three Lebanese hospitals during the past 8 years was conducted. Results From May 2002 through March 2010, we identified 24 children with AML in Saint George Hospital University Medical Center, University Medical Center Rizk Hospital, and Abou-Jaoude Hospital. Males and females were equally represented; median age at diagnosis was 9 years (range 1–24) and median WBC at diagnosis was 31 × 109/L (range: 2.1–376 × 109/L). Twenty five percent of patients (6 out of 24) had acute promyelocytic leukemia (APL). Karyotype was normal in 33% of patients; t(8;21), inv (16), t(8;9), t(7;11), t(9;11), complex chromosomal abnormality, monosomy 7 and trisomy 8 were the most common cytogenetic abnormalities encountered. Patients were treated on different European and North American protocols. Twelve patients (50%) achieved morphologic CR after cycle 1, 6 of them (50%) had bone marrow relapse within 11 months from diagnosis. Nine patients underwent allogeneic stem cell transplant, and 3 of them are alive at 5 years post-transplant. Early death rate was 16.6% of patients, mainly those with APL and a presenting WBC > 10 × 109/L. Fifty per cent of APL patients had an early death due to DIC despite starting ATRA therapy. Overall, median survival for AML patients who died from disease progression was 25.8 months (range: 1–60 months). Overall disease-free survival was 30.4%. Patients < 10 years of age had a 50% survival rate compared to 0% in patients > 10 years. Conclusions Our report highlights the needs in Lebanon for better supportive care of children with APL

  6. Diarrhoea in close contacts as a risk factor for childhood haemolytic uraemic syndrome. The CPKDRC co-investigators.

    PubMed Central

    Rowe, P. C.; Orrbine, E.; Lior, H.; Wells, G. A.; McLaine, P. N.

    1993-01-01

    To determine whether the risk factors for childhood haemolytic uraemic syndrome (HUS) are similar to risk factors previously reported for Escherichia coli O 157. H7 gastroenteritis, we conducted a case-control study at eight paediatric hospitals in the summer of 1990. Thirty-four consecutive children with HUS were prospectively enrolled; all had diarrhoea and 88% had laboratory evidence of exposure to verotoxin-producing E. coli (VTEC). The 102 controls were otherwise healthy children with minor acute injuries. Parents of all subjects responded to a questionnaire about each child's exposure to various foods, methods of food preparation, sources of water, travel, and individuals with diarrhoea. Children with HUS were significantly more likely than controls to have had close contact with an individual with diarrhoea in the 2 weeks before the onset of illness (74 v. 29%, P < 0.00001; odds ratio 7.0, 95% CI 2.7-18.5). The onset of diarrhoea in the contacts occurred a median of 6 days (range, 1- > 14 days) before the onset of diarrhoea in the HUS patients. Exposure to undercooked ground meat was not significantly more common in the patients with HUS (15 v. 8%; P = 0.05). These data provide evidence consistent with person-to-person transmission of VTEC in a substantial proportion of episodes of childhood HUS. PMID:8432328

  7. Examination of Work Environment Factors Relating to Burnout Syndrome of Early Childhood Educators in Greece

    ERIC Educational Resources Information Center

    Rentzou, Konstantina

    2012-01-01

    Early childhood education is a profession which requires the professional staff to spend considerable time in intense involvement with other people. The pressure from the demands this profession has can create a sense of physical and emotional exhaustion that often leads to burnout. Thus, previous research has linked perceptions of the work…

  8. A case-control study of sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zheng, Jinxiang; Huang, Erwen; Tang, Shuangbo; Wu, Qiuping; Huang, Lei; Zhang, Dongchuan; Quan, Li; Liu, Chao; Cheng, Jianding

    2015-03-01

    To study the epidemiological characteristics of sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population during 2007 to 2013, we gathered 879 SUNDS victims from Dongguan City and in the Longgang District in Shenzhen City as the case group then selected 879 all-cause death cases, adopting a 1:1 pair method, as the control group I and collected 8142 all-cause death cases from the Bao'an District in Shenzhen City as the control group II, simultaneously. Case information collected was statistically analyzed. The annual incidence of SUNDS is 1.02 and 2.23 per 100,000 person-years for Dongguan City and in the Longgang District, respectively. The number of male and female victims is drastically different, with a ratio of 13.92:1, whereas the incidence between the 2 sexes is significantly different (χ2 = 78.734, P < 0.01), with an odds ratio value of 11.32 (95% confidence interval, 5.75-22.28). The age of death of SUNDS cases ranges from 17 to 55 years with a median age of 35 years; furthermore, the difference of distribution of age of death between the SUNDS victims and the all-cause death population is significant (χ2 = 767.12, P < 0.001). The birthplace of SUNDS victims is distributed throughout 27 provinces of China, but the difference between the SUNDS victims and the all-cause death population is not significant (χ2 = 27.273, P > 0.05). The monthly incidence of SUNDS is relatively higher from March to June, whereas the difference of monthly distribution between SUNDS victims and all-cause death population is significant (χ2 = 9.869, P < 0.05), with an odds ratio value of 1.42 (95% confidence interval, 1.14-1.76). Although the majority of SUNDS occurred during midnight sleep, they were mostly discovered from 7 to 9 am once the inmates or spouses woke in the morning. A total of 97.74% of the SUNDS victims were blue-collar factory workers with a high-intensity labor and poor education background. This investigation confirmed the

  9. Self-reported childhood maltreatment, lifelong traumatic events and mental disorders in fibromyalgia syndrome: a comparison of US and German outpatients

    PubMed Central

    Häuser, Winfried; Hoffmann, Eva-Maria; Wolfe, Frederick; Worthing, Angus B.; Stahl, Neil; Rothenberg, Russell; Walitt, Brian

    2016-01-01

    Objective The robustness of findings on retrospective self-reports of childhood maltreatment and lifetime traumatic experiences of adults with fibromyalgia syndrome (FMS) has not been demonstrated by transcultural studies. This is the first transcultural study to focus on the associations between FMS, childhood maltreatment, lifetime psychological traumas, and potential differences between countries adjusting for psychological distress. Methods 71 age-and sex-matched US and German FMS outpatients were compared. Childhood maltreatment were assessed by the Childhood Trauma Questionnaire and potential, traumatic experiences by the trauma list of the Munich Composite International Diagnostic Interview. Potential posttraumatic stress disorder (PTSD) was diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders IV-TR symptom criteria by the Posttraumatic Diagnostic Scale. Potential depressive and anxiety disorder were assessed by the Patient Health Questionnaire PHQ 4. Results US and German patients did not significantly differ in the amount of self-reported childhood maltreatment (emotional, physical and sexual abuse or neglect) or in the frequency of lifetime traumatic experiences. No differences in the frequency of potential anxiety, depression, and PTSD were seen. Psychological distress fully accounted for group differences in emotional and sexual abuse and emotional and physical neglect. Conclusion The study demonstrated the transcultural robustness of findings on the association of adult FMS with self-reports of childhood maltreatment and lifelong traumatic experiences. These associations are mainly explained by current psychological distress. PMID:25786049

  10. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  11. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.

    PubMed

    Roe, C R; Millington, D S; Maltby, D A; Kinnebrew, P

    1986-01-01

    The medium-chain acyl-CoA dehydrogenase (MCAD) deficiency of mitochondrial beta oxidation has been identified in two asymptomatic siblings in a family in which two previous deaths had been recorded, one attributed to sudden infant death syndrome and the other to Reye syndrome. Recognition of this disorder in one of the deceased and in the surviving siblings was accomplished by detection of a diagnostic metabolite, octanoylcarnitine, using a new mass spectrometric technique. This resulted in early treatment with L-carnitine supplement in the survivors, which should prevent metabolic deterioration. Further studies suggest that breast-feeding may be protective for infants with MCAD deficiency. Families with children who have had Reye syndrome or in which sudden infant death has occurred are at risk for MCAD deficiency. We suggest that survivors and asymptomatic siblings should be tested for this treatable disorder.

  12. Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

    PubMed

    Hutchin, T; Coy, N N; Conlon, H; Telford, E; Bromelow, K; Blaydon, D; Taylor, G; Coghill, E; Brown, S; Trembath, R; Liu, X Z; Bitner-Glindzicz, M; Mueller, R

    2005-12-01

    Approximately one in 2000 children is born with a genetic hearing impairment, mostly inherited as a non-syndromic, autosomal recessive trait, for which more than 30 different genes have been identified. Previous studies have shown that one of these genes, connexin 26 (GJB2), accounts for 30-60% of such deafness, but the relative contribution of the many other genes is not known, especially in the outbred UK population. This lack of knowledge hampers the development of diagnostic genetic services for deafness. In an effort to determine the molecular aetiology of deafness in the population, 142 sib pairs with early-onset, non-syndromic hearing impairment were recruited. Those in whom deafness could not be attributed to GJB2 mutations were investigated further for other mapped genes. The genetic basis of 55 cases (38.7%) was established, 33.1% being due to mutations in the GJB2 gene and 3.5% due to mutations in SLC26A4. None of the remaining 26 loci investigated made a significant contribution to deafness in a Caucasian population. We suggest that screening the GJB2 and SLC26A4 genes should form the basis of any genetic testing programme for childhood deafness and highlight a number of important issues for consideration and future work.

  13. Childhood Tourette's syndrome and the Thematic Apperception Test: is there a recognizable pattern?

    PubMed

    Wodrich, D L; Thull, L M

    1997-10-01

    26 children, one-half of whom were diagnosed with Tourette's syndrome, were administered the Thematic Apperception Test. A pilot investigation suggested that children with Tourette's syndrome produced high rates of responses in four categories: references to physical aggression, supernatural power, character names, and specific quantities. When compared with other children treated for emotional and behavioral problems at the same facility and matched on demographic variables and IQ, children with Tourette's syndrome were not more likely to produce Thematic Apperception Test responses in any of the four categories. This study shows that a recognizable pattern on projective testing was not easily established among these 13 children with Tourette's syndrome and further highlights the importance of using mental health comparison groups when investigating clinical disorders.

  14. Metabolic syndrome and childhood trauma: Also comorbidity and complication in mood disorder

    PubMed Central

    Kesebir, Sermin

    2014-01-01

    Studies for prevalence and causal relationship established that addressing comorbidities of mental illnesses with medical disease will be another revolution in psychiatry. Increasing number of evidence shows that there is a bidirectional connection between mood disorders and some medical diseases. Glucocorticoid/insulin signal mechanisms and immunoenflammatory effector systems are junction points that show pathophysiology between bipolar disorder and general medical situations susceptible to stress. A subgroup of mood disorder patients are under risk of developing obesity and diabetes. Their habits and life styles, genetic predisposition and treatment options are parameters that define this subgroup. Medical disease in adults had a significant relationship to adverse life experiences in childhood. This illustrates that adverse experiences in childhood are related to adult disease by two basic etiologic mechanisms: (1) conventional risk factors that actually are compensatory behaviors, attempts at self-help through the use of agents and foods; and (2) the effects of chronic stress. PMID:25133143

  15. Asperger syndrome in childhood – personality dimensions in adult life: temperament, character and outcome trajectories

    PubMed Central

    Wallinius, Märta; Gillberg, I. Carina; Gillberg, Christopher; Billstedt, Eva

    2016-01-01

    Background Temperament and character have been shown to be important factors in understanding psychiatric and neurodevelopmental disorder. Adults with autism spectrum disorder (ASD) have repeatedly been shown to have a distinct temperament and character, but this has not been evaluated in relation to psychiatric comorbidity and ASD diagnostic stability. Aims To examine temperament and character in males that were diagnosed with ASD in childhood and followed prospectively over almost two decades. Method Temperament and character were assessed in 40 adult males with a childhood diagnosis of ASD. Results were analysed by the stability of ASD diagnosis over time and current psychiatric comorbidity. Results Three distinct temperament and character profiles emerged from the data. Those no longer meeting criteria for ASD had high reward dependence while those with a stable ASD diagnosis and psychiatric comorbidity showed elevated harm avoidance and low self-directedness and cooperativeness. Finally, those with a stable ASD and no comorbidity showed low novelty seeking and somewhat elevated harm avoidance. Conclusions Temperament and character are important factors correlated with long-term diagnostic stability and psychiatric comorbidity in males diagnosed with ASD in childhood. Declaration of interest None. Copyright and usage © The Royal College of Psychiatrists 2016. This is an open access article distributed under the terms of the Creative Commons Non-Commercial, No Derivatives (CC BY-NC-ND) licence. PMID:27703778

  16. The protective effect of immunisation against diphtheria, pertussis and tetanus (DPT) in relation to sudden infant death syndrome.

    PubMed

    Essery, S D; Raza, M W; Zorgani, A; MacKenzie, D A; James, V S; Weir, D M; Busuttil, A; Hallam, N; Blackwell, C

    1999-08-01

    Epidemiological evidence indicates infants immunised against diphtheria, pertussis and tetanus (DPT) are at decreased risk of sudden infant death syndrome (SIDS). Asymptomatic whooping cough and pyrogenic toxins of Staphylococcus aureus have been implicated in the aetiology of SIDS. The objectives of the present study were: (1) to determine if the DPT vaccine induced antibodies cross-reactive with the staphylococcal toxins; (2) to determine if antibodies to the pertussis toxin (PT) and the staphylococcal toxins were present in the sera of women during late pregnancy; (3) to examine the effects of infant immunisation on levels of antibodies to PT and the staphylococcal toxins; (4) to assess the effects of changes in immunisation schedules in the UK on the incidence and age distribution of SIDS. Enzyme-linked immunosorbent assays (ELISA) were used to measure binding of rabbit or human IgG to the DPT vaccine, PT, toxic shock syndrome toxin-1 (TSST-1) and staphylococcal enterotoxins A (SEA), B (SEB) and C (SEC). Neutralisation activity of anti-DPT serum was assessed by a bioassay for induction of nitric oxide from human monocytes by the staphylococcal toxins. Anti-DPT serum bound to the DPT vaccine, PT and each of the staphylococcal toxins. It also reduced the ability of the four toxins to induce nitric oxide from monocytes. In pregnant women, levels of IgG to PT, SEC and TSST-1 decreased significantly in relation to increasing weeks of gestation while antibodies to SEA and SEB increased. In infants' sera there were significant correlations between levels of IgG bound to DPT and IgG bound to PT, TSST-1 and SEC but not SEA or SEB. Antibody levels to the toxins in infants declined with age; sera from infants < or = 2 months of age had higher levels of IgG bound to the toxins than those older than 2 months. This pattern was observed for infants whose immunisation schedules began at 2 months of age or 3 months of age. The decrease in IgG bound to the toxins was, however

  17. Leukemia as a cause of death among patients with myelodysplastic syndromes (MDS) in a population- based cancer registry: improving estimates of MDS-related mortality in the population.

    PubMed

    Polednak, Anthony P; Phillips, Cathryn

    2012-01-01

    Myelodysplastic syndromes (MDS), a heterogeneous group of myeloid neoplasms diagnosed mostly in elderly persons, are of increasing interest in an aging population and are associated with variable risk of progression to acute myeloid leukemia (AML). The numbers of deaths related to MDS in the population are underestimated in routine US cancer mortality statistics which are based on only the underlying cause (UC) rather than multiple causes (MCs) of death recorded on death certificates. Additional MDS-related deaths, however, may be missed if some MDS patients die with mention of leukemia but not MDS on their death certificate. This requires studies of MCs of death among all MDS patients in population-based tumor registries. This study examined MCs of death among patients diagnosed with MDS in 2001- 2009 and reported to the population-based Connecticut Tumor Registry. MDS was the UC for 199 deaths (25.7% of all 773) and was coded as other than UC for 160 (20.7%). Another 121 (15.7%) death records, however, had leukemia without mention of MDS; the majority were coded to AML and most of the others as unspecified type of acute leukemia. If these 121 deaths are added to the 359 with mention of MDS, the total of MDS-related deaths would be 480 (or 62.1% of all 773 deaths). A total of 178 deaths (23.0% of all 773) were coded to leukemia as the UC, and would be included with leukemia (not MDS) in routine cancer mortality statistics. Leukemia diagnosed since 2010 in MDS patients is reportable to registries as a new primary cancer. This new rule will help central cancer registries to confirm leukemia diagnoses coded on death records, as part of the process of improving surveillance of cancer mortality rates in the population.

  18. Minimally Invasive Treatment of Mirizzi Syndrome, a Rare Cause of Cholestasis in Childhood

    PubMed Central

    Yilmaz, Sezgin; Yavuz, Mustafa; Çetinkurşun, Salih

    2016-01-01

    Mirizzi syndrome is the compressive blockage of the cystic or choledochal duct caused by a biliary stone occupying the cystic canal or Hartmann's pouch. This occurrence is rare and, in English literature, three cases defined in children have been observed. In order to draw attention to this rare occurrence, we preferred a 14-year-old male patient with Mirizzi syndrome. In this case, ERCP was performed preoperatively and the diagnosis was carried out with the help of clear visualisation and identification of the tissue structures as well as the stent placed in bile duct; so we protected the patient from the possible iatrogenic injury occurring during surgery. PMID:27843664

  19. [Hematopoietic stem cell transplant in combined immunodeficiency syndromes of childhood: an optimal treatment for primary immunodeficiency].

    PubMed

    Olaya-Vargas, Alberto; Coronel-Moran, Rocío; Rivera-Luna, Roberto; Bravo-Lindoro, Amalia; Bejar-Ramírez, Yadira; Lormendez-Jacome, Doris

    2005-01-01

    The congenital immunodeficiency disorders in which the defect has been clearly traced to the stem cell can be cured with allogeneic stem-cell transplantation (SCT) from an unaffected donor. Widespread application of this treatment modality has been tempered by the fact that risk-benefit considerations do not always favor a procedure that carries a significant risk for morbidity and mortality. Some malignant disorders of childhood eventually have to be treated by an autologous or allogeneic SCT, however nonmalignant disorders can also be treated with this approach. This article reviews the current status of SCT for nonmalignant inherited immunodeficiency disorders.

  20. Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

    PubMed Central

    Torchen, Laura C.; Idkowiak, Jan; Fogel, Naomi R.; O'Neil, Donna M.; Shackleton, Cedric H. L.; Arlt, Wiebke

    2016-01-01

    Context: Polycystic ovary syndrome (PCOS) is a heritable, complex genetic disease. Animal models suggest that androgen exposure at critical developmental stages contributes to disease pathogenesis. We hypothesized that genetic variation resulting in increased androgen production produces the phenotypic features of PCOS by programming during critical developmental periods. Although we have not found evidence for increased in utero androgen levels in cord blood in the daughters of women with PCOS (PCOS-d), target tissue androgen production may be amplified by increased 5α-reductase activity analogous to findings in adult affected women. It is possible to noninvasively test this hypothesis by examining urinary steroid metabolites. Objective: We performed this study to investigate whether PCOS-d have altered androgen metabolism during early childhood. Design, Setting, and Participants: Twenty-one PCOS-d, 1–3 years old, and 36 control girls of comparable age were studied at an academic medical center. Main Outcome Measures: Urinary steroid metabolites were measured by gas chromatography/mass spectrometry. Twenty-four hour steroid excretion rates and precursor to product ratios suggestive of 5α-reductase and 11β-hydroxysteroid dehydrogenase activities were calculated. Results: Age did not differ but weight for length Z-scores were higher in PCOS-d compared to control girls (P = .02). PCOS-d had increased 5α-tetrahydrocortisol:tetrahydrocortisol ratios (P = .04), suggesting increased global 5α-reductase activity. There was no evidence for differences in 11β-hydroxysteroid dehydrogenase activity. Steroid metabolite excretion was not correlated with weight. Conclusions: Our findings suggest that differences in androgen metabolism are present in early childhood in PCOS-d. Increased 5α-reductase activity could contribute to the development of PCOS by amplifying target tissue androgen action. PMID:26990942

  1. Cell and Gene Therapy for Genetic Diseases: Inherited Disorders Affecting the Lung and Those Mimicking Sudden Infant Death Syndrome

    PubMed Central

    Keeler, Allison M.

    2012-01-01

    Abstract Some of the first human gene therapy trials targeted diseases of the lung and provided important information that will continue to help shape future trials. Here we describe both cell and gene therapies for lung diseases such as cystic fibrosis and alpha-1 antitrypsin disorder as well as fatty acid oxidation disorders that mimic sudden infant death syndrome (SIDS). Human clinical gene therapy trials for cystic fibrosis and alpha-1 antitrypsin have been performed using a variety of vectors including adenovirus, adeno-associated virus, and nonviral vectors. No human clinical gene therapy trials have been performed for disorders of fatty acid oxidation; however, important proof-of-principle studies have been completed for multiple fatty acid oxidation disorders. Important achievements have been made and have yet to come for cell and gene therapies for disorders of the lung and those mimicking SIDS. PMID:22642257

  2. Cell and gene therapy for genetic diseases: inherited disorders affecting the lung and those mimicking sudden infant death syndrome.

    PubMed

    Keeler, Allison M; Flotte, Terence R

    2012-06-01

    Some of the first human gene therapy trials targeted diseases of the lung and provided important information that will continue to help shape future trials. Here we describe both cell and gene therapies for lung diseases such as cystic fibrosis and alpha-1 antitrypsin disorder as well as fatty acid oxidation disorders that mimic sudden infant death syndrome (SIDS). Human clinical gene therapy trials for cystic fibrosis and alpha-1 antitrypsin have been performed using a variety of vectors including adenovirus, adeno-associated virus, and nonviral vectors. No human clinical gene therapy trials have been performed for disorders of fatty acid oxidation; however, important proof-of-principle studies have been completed for multiple fatty acid oxidation disorders. Important achievements have been made and have yet to come for cell and gene therapies for disorders of the lung and those mimicking SIDS.

  3. Safe sleep practices and sudden infant death syndrome risk reduction: NICU and well-baby nursery graduates.

    PubMed

    Fowler, Aja J; Evans, Patricia W; Etchegaray, Jason M; Ottenbacher, Allison; Arnold, Cody

    2013-11-01

    Our primary objective was to compare parents of infants cared for in newborn intensive care units (NICUs) and infants cared for in well-baby ("general") nurseries with regard to knowledge and practice of safe sleep practices/sudden infant death syndrome risk reduction measures and guidelines. Our secondary objective was to obtain qualitative data regarding reasons for noncompliance in both populations. Sixty participants (30 from each population) completed our survey measuring safe sleep knowledge and practice. Parents of NICU infants reported using 2 safe sleep practices-(a) always placing baby in crib to sleep and (b) always placing baby on back to sleep-significantly more frequently than parents of well infants. Additional findings and implications for future studies are discussed.

  4. Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes

    ClinicalTrials.gov

    2017-02-07

    Childhood Acute Basophilic Leukemia; Childhood Acute Eosinophilic Leukemia; Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Minimally Differentiated Myeloid Leukemia (M0); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  5. Family Health and Characteristics in Chronic Fatigue Syndrome, Juvenile Rheumatoid Arthritis, and Emotional Disorders of Childhood.

    ERIC Educational Resources Information Center

    Rangel, Luiza; Garralda, M. Elena; Jeffs, Jim; Rose, Gillian

    2005-01-01

    Objective: To compare family health and characteristics in children with chronic fatigue syndrome (CFS), in juvenile rheumatoid arthritis (JRA), and emotional disorders. Method: Parents of 28 children and adolescents aged 11 to 18 years with CFS, 30 with JRA, and 27 with emotional disorders (i.e., anxiety and/or depressive disorders) were…

  6. Ontogeny of polycystic ovary syndrome and insulin resistance in utero and early childhood

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Polycystic ovary syndrome (PCOS) is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman's lifetime risk of type 2 diabetes mellitus. It is heritable and intensely familial. Progress toward a cure has been delayed by absence of an etiology. Evidence is mounting...

  7. Benign Childhood Focal Epilepsies: Assessment of Established and Newly Recognized Syndromes

    ERIC Educational Resources Information Center

    Panayiotopoulos, Chrysostomos P.; Michael, Michael; Sanders, Sue; Valeta, Thalia; Koutroumanidis, Michael

    2008-01-01

    A big advance in epileptology has been the recognition of syndromes with distinct aetiology, clinical and EEG features, treatment and prognosis. A prime and common example of this is rolandic epilepsy that is well known by the general paediatricians for over 50 years, thus allowing a precise diagnosis that predicts an excellent prognosis. However,…

  8. Systematic Review of Cognitive Development across Childhood in Down Syndrome: Implications for Treatment Interventions

    ERIC Educational Resources Information Center

    Patterson, T.; Rapsey, C. M.; Glue, P.

    2013-01-01

    Background: There is conjecture regarding the profile of cognitive development over time in children with Down syndrome (DS). Characterising this profile would be valuable for the planning and assessment of intervention studies. Method: A systematic search of the literature from 1990 to the present was conducted to identify longitudinal data on…

  9. Compulsive Behavior in Prader-Willi Syndrome: Examining Severity in Early Childhood

    ERIC Educational Resources Information Center

    Dimitropoulos, A.; Blackford, J.; Walden, T.; Thompson, T.

    2006-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia and food preoccupations. Researchers indicate that individuals with PWS, including young children, exhibit food and non-food-related compulsions. Normative rituals are also often present among typically developing preschoolers. However, it is unclear how these behaviors…

  10. Factors enhancing adherence of toxigenic Staphylococcus aureus to epithelial cells and their possible role in sudden infant death syndrome.

    PubMed

    Saadi, A T; Blackwell, C C; Raza, M W; James, V S; Stewart, J; Elton, R A; Weir, D M

    1993-06-01

    Toxigenic strains of Staphylococcus aureus have been suggested to play a role in sudden infant death syndrome (SIDS). In this study we examined two factors that might enhance binding of toxigenic staphylococci to epithelial cells of infants in the age range in which cot deaths are prevalent: expression of the Lewis(a) antigen and infection with respiratory syncytial virus (RSV). By flow cytometry we demonstrated that binding of three toxigenic strains of S. aureus to cells from nonsecretors was significantly greater than to cells of secretors. Pre-treatment of epithelial cells with monoclonal anti-Lewis(a) or anti-type-1 precursor significantly reduced bacterial binding (P < 0.01); however, attachment of the bacteria correlated only with the amount of Lewis(a) antigen detected on the cells (P < 0.01). HEp-2 cells infected with RSV bound significantly more bacteria than uninfected cells. These findings are discussed in context of factors previously associated with SIDS (mother's smoking, bottle feeding and the prone sleeping position) and a hypothesis proposed to explain some cases of SIDS.

  11. Optimizing conditions of a cell-free toxic filtrate stem cutting assay to evaluate soybean genotype responses to Fusarium species that cause sudden death syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cell-free toxic culture filtrates from Fusarium virguliforme, the causal fungus of soybean sudden death syndrome (SDS), cause foliar symptoms on soybean stem-cuttings similar to those obtained from root inoculations in whole plants and those observed in production fields. The objectives of this stud...

  12. Back to Sleep: Reduce the Risk of Sudden Infant Death Syndrome (SIDS) [and] Questions and Answers for Professionals on Infant Sleeping Position and SIDS.

    ERIC Educational Resources Information Center

    Health Resources and Services Administration (DHHS/PHS), Washington, DC. Maternal and Child Health Bureau.

    The "Back to Sleep" public health campaign, which recommends that infants be placed on their backs for sleeping help reduce the risk of Sudden Infant Death Syndrome (SIDS), was initiated in 1994. The campaign was led by the National Institute of Child Health and Human Development, and co-sponsored by the U.S. Public Health Service, the…

  13. Death of pastures syndrome: tissue changes in Urochloa hybrida cv. Mulato II and Urochloa brizantha cv. Marandu.

    PubMed

    Ribeiro-Júnior, N G; Ariano, A P R; Silva, I V

    2016-07-11

    The quality of forage production is a prerequisite to raising livestock. Therefore, income losses in this activity, primarily cattle raising, can result in the impossibility of economic activity. Through the qualitative and quantitative anatomical study of Urochloa hybrida cv. Mulato II and U. brizantha cv. Marandu, we searched for descriptions and compared changes in the individual vegetative body from populations with death syndrome pastures (DPS). Specimens were collected at different physiological stages from farms in northern Mato Grosso. After collection, the individuals were fixed in FAA50 and stored in 70% alcohol. Histological slides were prepared from the middle third of the sections of roots, rhizomes, and leaves, and the proportions and characteristics of tissues were evaluated in healthy, intermediate, and advanced stages of DPS. Changes were compared between cultivars. With the advancement of the syndrome, the following changes were observed: a more marked decrease in the length of roots in U. hybrida; disorganization of the cortical region of the roots and rhizome cultivars; fungal hyphae in roots and aerenchyma formation in U. hybrida; a decrease in sclerenchyma fiber proportions in roots and leaves; sclerification of the epidermis of U. brizantha rhizomes; and an increase in pericyclic fibers in U. hybrida. Furthermore, there was a decrease in the volume of epidermal cells of the abaxial face of the leaves of both cultivars, with a greater reduction in U. hybrida; a gradual decrease in thickness in the midrib of leaves similar to leaf mesophyll; conduction system obstructions; partial or total cell lysis in roots and rhizomes affected by the syndrome. Obstructions in sieve tube element and companion cells, and sometimes obstruction in xylem vessel elements. The evolution of DPS in cultivars was similar, but there were variations, arising probably from the physiological response to stress, such as aerenchyma formation in the root and increased

  14. HLA-DQA1 and PLCG2 Are Candidate Risk Loci for Childhood-Onset Steroid-Sensitive Nephrotic Syndrome.

    PubMed

    Gbadegesin, Rasheed A; Adeyemo, Adebowale; Webb, Nicholas J A; Greenbaum, Larry A; Abeyagunawardena, Asiri; Thalgahagoda, Shenal; Kale, Arundhati; Gipson, Debbie; Srivastava, Tarak; Lin, Jen-Jar; Chand, Deepa; Hunley, Tracy E; Brophy, Patrick D; Bagga, Arvind; Sinha, Aditi; Rheault, Michelle N; Ghali, Joanna; Nicholls, Kathy; Abraham, Elizabeth; Janjua, Halima S; Omoloja, Abiodun; Barletta, Gina-Marie; Cai, Yi; Milford, David D; O'Brien, Catherine; Awan, Atif; Belostotsky, Vladimir; Smoyer, William E; Homstad, Alison; Hall, Gentzon; Wu, Guanghong; Nagaraj, Shashi; Wigfall, Delbert; Foreman, John; Winn, Michelle P

    2015-07-01

    Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were tested (odds ratio, 2.11; 95% confidence interval, 1.56 to 2.86; P=1.68×10(-6) (Fisher exact test). Two of these SNPs-the missense variants C34Y (rs1129740) and F41S (rs1071630) in HLA-DQA1-were replicated in an independent cohort of children of white European ancestry with SSNS (100 cases and ≤589 controls; P=1.42×10(-17)). In the rare variant gene set-based analysis, the best signal was found in PLCG2 (P=7.825×10(-5)). In conclusion, this exome array study identified HLA-DQA1 and PLCG2 missense coding variants as candidate loci for SSNS. The finding of a MHC class II locus underlying SSNS risk suggests a major role for immune response in the pathogenesis of SSNS.

  15. Unusual late clinical manifestation of Bland-White-Garland syndrome as sudden cardiac death survival.

    PubMed

    Plank, Fabian; Feuchtner, Gudrun; Chevtchik, Orest; Mair, Johannes

    2015-03-01

    In this report, we present an extremely late clinical manifestation of Bland-White-Garland syndrome in a 53-year old woman who was ttransferred to our hospital after successful cardiopulmonary resuscitation. Coronary angiography revealed a dilated right coronary artery giving rise to multiple dominant septal collaterals to the left coronary artery (LCA) which arose from the pulmonary trunk (left to right shunt 0.15). Cardiac computed tomography identified a retropulmonary course of the LCA. The patient underwent cardiac surgery with LCA occlusion and triple coronary bypass grafting.

  16. Infant Botulism Acquired from Household Dust Presenting as Sudden Infant Death Syndrome

    PubMed Central

    Nevas, Mari; Lindström, Miia; Virtanen, Antti; Hielm, Sebastian; Kuusi, Markku; Arnon, Stephen S.; Vuori, Erkki; Korkeala, Hannu

    2005-01-01

    Clostridium botulinum type B was detected by multiplex PCR in the intestinal contents of a suddenly deceased 11-week-old infant and in vacuum cleaner dust from the patient's household. C. botulinum was also isolated from the deceased infant's intestinal contents and from the household dust. The genetic similarity of the two isolates was demonstrated by pulsed-field gel electrophoresis and randomly amplified polymorphic DNA analysis, thereby confirming that dust may act as a vehicle for infant botulism that results in sudden death. PMID:15635031

  17. Infant botulism acquired from household dust presenting as sudden infant death syndrome.

    PubMed

    Nevas, Mari; Lindström, Miia; Virtanen, Antti; Hielm, Sebastian; Kuusi, Markku; Arnon, Stephen S; Vuori, Erkki; Korkeala, Hannu

    2005-01-01

    Clostridium botulinum type B was detected by multiplex PCR in the intestinal contents of a suddenly deceased 11-week-old infant and in vacuum cleaner dust from the patient's household. C. botulinum was also isolated from the deceased infant's intestinal contents and from the household dust. The genetic similarity of the two isolates was demonstrated by pulsed-field gel electrophoresis and randomly amplified polymorphic DNA analysis, thereby confirming that dust may act as a vehicle for infant botulism that results in sudden death.

  18. [The Landau-Kleffner syndrome: a special form of acquired childhood aphasia].

    PubMed

    Blouw-van Mourik, M; van Dongen, H R; Loonen, M C; Jannsen, A M

    1989-03-01

    The syndrome of "acuqired aphasia with convulsive disorder" occurs in children between 3 and 7 years of age and is characterized by a language disorder with heterogeneous epileptic manifestations. The pathogenesis is unknown. The course can show marked fluctuations. Our study of 6 children shows that the outcome can range from extremely unfavorable to complete recovery. The variables that possibly influence the course are discussed.

  19. Cyclosporin A acute encephalopathy and seizure syndrome in childhood: clinical features and risk of seizure recurrence.

    PubMed

    Gleeson, J G; duPlessis, A J; Barnes, P D; Riviello, J J

    1998-07-01

    Cyclosporin A is associated with an acute encephalopathy including seizures and alterations in mental status, herein referred to as cyclosporin A acute encephalopathy and seizure syndrome. The clinical history, electroencephalogram (EEG), and neuroimaging findings in 19 children with cyclosporin A acute encephalopathy and seizure syndrome over a 10-year period were reviewed in order to delineate clinical characteristics, imaging features, and to determine the risk of seizure recurrence in this population. All 19 had motor seizures associated with other features of cortical and subcortical dysfunction. The acute mean cyclosporin A level was 342 microg/L, but was within the "therapeutic" range in five cases. Brain imaging by computed tomography (CT) or magnetic resonance imaging (MRI) in the acute or subacute phase revealed lesions characteristic of cyclosporin A toxicity in 14 cases. Acute EEG abnormalities were present in all and included epileptiform discharges or focal slowing. Patients were followed for a median of 49 months (1-9 years). Follow-up imaging (n = 10) showed lesion resolution or improvement in the majority while EEG (n = 10) had normalized in only three. Seizures recurred in six patients and only in those with persistent EEG or imaging abnormalities. No patient had a second episode of cyclosporin A associated neurotoxicity or seizure. It appears that a significant risk of seizure recurrence exists following cyclosporin A acute encephalopathy and seizure syndrome and primarily in those children with persistent EEG or imaging abnormalities.

  20. Bilateral carpal tunnel in childhood associated with Schwartz-Jampel syndrome.

    PubMed

    Cruz Martínez, A; Arpa, J; Pérez Conde, M C; Ferrer, M T

    1984-01-01

    The case of a 7-year-old girl, the only descendant of non-consanguineous parents, who presented typical features of the Schwartz-Jampel syndrome and electrophysiological evidence of bilateral carpal tunnel is reported. Conventional electromyogram (EMG) showed persistent and continuous electrical activity and high frequency discharges elicited spontaneously by movement of the needle or after voluntary activation. Electrical silence after phenytoin therapy was sometimes seen. Single fiber electromyography (SFEMG) showed that high frequency discharges had a complex configuration and multiple components. Occasionally the discharges showed a progressive decrease in amplitude. Increased jitter was also found in some potential pairs that had been isolated under voluntary contraction after phenytoin therapy. Motor and sensory conduction velocities on the median nerve were slowed bilaterally across the carpal tunnel. Bilateral carpal tunnel syndrome is an unusual condition in children and its clinical picture differs from that in adults. Carpal tunnel syndrome was not clinically suspected in the patient reported in this article and the diagnosis was confirmed by the conduction velocity study.

  1. The Role of Ionotropic Glutamate Receptors in Childhood Neurodevelopmental Disorders: Autism Spectrum Disorders and Fragile X Syndrome

    PubMed Central

    Uzunova, Genoveva; Hollander, Eric; Shepherd, Jason

    2014-01-01

    Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS. PMID:24533017

  2. Plasma ceramides predict cardiovascular death in patients with stable coronary artery disease and acute coronary syndromes beyond LDL-cholesterol

    PubMed Central

    Laaksonen, Reijo; Ekroos, Kim; Sysi-Aho, Marko; Hilvo, Mika; Vihervaara, Terhi; Kauhanen, Dimple; Suoniemi, Matti; Hurme, Reini; März, Winfried; Scharnagl, Hubert; Stojakovic, Tatjana; Vlachopoulou, Efthymia; Lokki, Marja-Liisa; Nieminen, Markku S.; Klingenberg, Roland; Matter, Christian M.; Hornemann, Thorsten; Jüni, Peter; Rodondi, Nicolas; Räber, Lorenz; Windecker, Stephan; Gencer, Baris; Pedersen, Eva Ringdal; Tell, Grethe S.; Nygård, Ottar; Mach, Francois; Sinisalo, Juha; Lüscher, Thomas F.

    2016-01-01

    Aims The aim was to study the prognostic value of plasma ceramides (Cer) as cardiovascular death (CV death) markers in three independent coronary artery disease (CAD) cohorts. Methods and results Corogene study is a prospective Finnish cohort including stable CAD patients (n = 160). Multiple lipid biomarkers and C-reactive protein were measured in addition to plasma Cer(d18:1/16:0), Cer(d18:1/18:0), Cer(d18:1/24:0), and Cer(d18:1/24:1). Subsequently, the association between high-risk ceramides and CV mortality was investigated in the prospective Special Program University Medicine—Inflammation in Acute Coronary Syndromes (SPUM-ACS) cohort (n = 1637), conducted in four Swiss university hospitals. Finally, the results were validated in Bergen Coronary Angiography Cohort (BECAC), a prospective Norwegian cohort study of stable CAD patients. Ceramides, especially when used in ratios, were significantly associated with CV death in all studies, independent of other lipid markers and C-reactive protein. Adjusted odds ratios per standard deviation for the Cer(d18:1/16:0)/Cer(d18:1/24:0) ratio were 4.49 (95% CI, 2.24–8.98), 1.64 (1.29–2.08), and 1.77 (1.41–2.23) in the Corogene, SPUM-ACS, and BECAC studies, respectively. The Cer(d18:1/16:0)/Cer(d18:1/24:0) ratio improved the predictive value of the GRACE score (net reclassification improvement, NRI = 0.17 and ΔAUC = 0.09) in ACS and the predictive value of the Marschner score in stable CAD (NRI = 0.15 and ΔAUC = 0.02). Conclusions Distinct plasma ceramide ratios are significant predictors of CV death both in patients with stable CAD and ACS, over and above currently used lipid markers. This may improve the identification of high-risk patients in need of more aggressive therapeutic interventions. PMID:27125947

  3. [Acute respiratory distress syndrome in childhood: Changing definition and news from the Pediatric Consensus Conference].

    PubMed

    Dauger, S; Le Bourgeois, F; Guichoux, J; Brissaud, O

    2017-03-23

    Acute respiratory distress syndrome (ARDS) is a rapidly progressive hypoxemic respiratory insufficiency induced by alveolar filling mainly caused by alveolocapillary wall disruption, following direct or indirect pulmonary injury. Much less frequent in children than in adults, pediatric intensivists had long applied adult guidelines to their daily practice. In 2015, experts from the Pediatric Acute Lung Injury Consensus Conference (PALICC) published the first international guidelines specifically dedicated to pediatric ARDS. After a short summary of the history of the ARDS definition since its first report in 1967, we describe the main diagnostic and therapeutic guidelines for PALICC.

  4. [The influence of migration background and parental education on childhood obesity and the metabolic syndrome].

    PubMed

    Dannemann, A; Ernert, A; Rücker, P; Babitsch, B; Wiegand, S

    2011-05-01

    Obesity and metabolic syndrome are important risk factors for cardiovascular diseases. In this study, the influence of migration background and parental education on the degree of obesity and the presence of the metabolic syndrome (MS) in children and adolescents (N=492) requiring sociopediatric care were investigated. Two regression models were computed with the dependent variables BMI-SDS and MS, respectively. Age, gender, migration background, and parental education were used as independent variables. When controlling for age and gender, higher BMI-SDS were found among Turkish patients (β=0.21; p=0.002) and patients with other migration backgrounds (β=0.11; p=0.085) compared to German patients. The BMI-SDS values were also higher among patients from families with a low parental education level compared to those with a higher education level (β=0.31; p<0.001). The key risk factor for MS is the BMI-SDS (OR: 8.9; p=0.011). No influence could be determined for migration background and parental education, when controlling for age, gender, and BMI-SDS. Obesity therapy should be increasingly tailored to the needs of identified risk groups. This will also allow for a targeted prevention of comorbidities.

  5. Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait.

    PubMed

    Kanavakis, Emmanuel; Xaidara, Athina; Papathanasiou-Klontza, Dimitra; Papadimitriou, Alexandros; Velentza, Stavroula; Youroukos, Sotiris

    2003-12-01

    Alternating hemiplegia of childhood is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, oculomotor and autonomic disturbances, movement disorders, and progressive cognitive impairment. We report on one family with autosomal dominant alternating hemiplegia. The disorder was first recognized in a 9-year-old child, the third son of the family, who presented with learning disability, tonic-clonic seizures, dystonic attacks, and episodes of alternating hemiplegia starting at the age of 2 1/2 years. His mother and three brothers had similar symptoms. The maternal uncle, who has learning disability, had experienced multiple dystonic attacks. Tests performed on the family, including computerized tomography, magnetic resonance imaging, and magnetic resonance angiography of the brain as well as metabolic evaluation, were normal. Cytogenetic analysis was normal and mitochondrial DNA analysis revealed no deletions or mutations in the four affected family members and the grandmother. An autosomal dominant mode of inheritance is suggested by the fact that both sexes are affected in two generations.

  6. Systemic Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood with hemophagocytic syndrome.

    PubMed

    Chen, Guoshu; Chen, Li; Qin, Xiaohua; Huang, Zhuoya; Xie, Xiaoling; Li, Guowei; Xu, Bing

    2014-01-01

    Epstein-Barr virus (EBV) associated lymphoproliferative disease (LPD) are commonly derived from B-cells, however, it is becoming more and more apparently that EBV can also infect T-lymphocytes. Systemic EBV positive T-cell LPD of childhood is rare and characterized by an extremely aggressive course and poor prognosis. Here, we report a 22-year-old female of systemic EBV positive TLPD with acute EBV infection and review the clinical features of this disorder. A 22-year-old previously healthy female without immunocompromised status presented with persisting coach and fever resistant to conventional therapies. Physical examination showed hemorrhage and hepatosplenomegaly. Laboratory examinations revealed severe pancytopenia, disseminated intra-vascular coagulopathy (DIC), and anti-EBV-IgM positivity. Peripheral blood smears and bone marrow investigation identified a number of atypical lymphocytes. Flow cytometry (FCM) did not show any significant evidence of leukemia or lymphoma. The lymph node biopsy showed apparent infiltration of lymphocytes, which expressed CD2+, CD3+, CD7+ and TIA1+. There was no CD20+ or CD56+ cells. EBV early RNA (EBER) was positive. Cytogenetic analysis showed a normal karyotype. T-cell receptor (TCR) gene rearrangement revealed a polyclonal pattern. The patient received prednisolone and IVIG therapy with a transient good condition, and then died of multiorgan failure one week after diagnosis.

  7. Systemic Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood with hemophagocytic syndrome

    PubMed Central

    Chen, Guoshu; Chen, Li; Qin, Xiaohua; Huang, Zhuoya; Xie, Xiaoling; Li, Guowei; Xu, Bing

    2014-01-01

    Epstein-Barr virus (EBV) associated lymphoproliferative disease (LPD) are commonly derived from B-cells, however, it is becoming more and more apparently that EBV can also infect T-lymphocytes. Systemic EBV positive T-cell LPD of childhood is rare and characterized by an extremely aggressive course and poor prognosis. Here, we report a 22-year-old female of systemic EBV positive TLPD with acute EBV infection and review the clinical features of this disorder. A 22-year-old previously healthy female without immunocompromised status presented with persisting coach and fever resistant to conventional therapies. Physical examination showed hemorrhage and hepatosplenomegaly. Laboratory examinations revealed severe pancytopenia, disseminated intra-vascular coagulopathy (DIC), and anti-EBV-IgM positivity. Peripheral blood smears and bone marrow investigation identified a number of atypical lymphocytes. Flow cytometry (FCM) did not show any significant evidence of leukemia or lymphoma. The lymph node biopsy showed apparent infiltration of lymphocytes, which expressed CD2+, CD3+, CD7+ and TIA1+. There was no CD20+ or CD56+ cells. EBV early RNA (EBER) was positive. Cytogenetic analysis showed a normal karyotype. T-cell receptor (TCR) gene rearrangement revealed a polyclonal pattern. The patient received prednisolone and IVIG therapy with a transient good condition, and then died of multiorgan failure one week after diagnosis. PMID:25400806

  8. Etanercept in Treating Young Patients With Idiopathic Pneumonia Syndrome After Undergoing a Donor Stem Cell Transplant

    ClinicalTrials.gov

    2017-02-07

    Accelerated Phase Chronic Myelogenous Leukemia; Blastic Phase Chronic Myelogenous Leukemia; Childhood Acute Lymphoblastic Leukemia in Remission; Childhood Acute Myeloid Leukemia in Remission; Childhood Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Chronic Phase Chronic Myelogenous Leukemia; de Novo Myelodysplastic Syndromes; Disseminated Neuroblastoma; Juvenile Myelomonocytic Leukemia; Previously Treated Childhood Rhabdomyosarcoma; Previously Treated Myelodysplastic Syndromes; Pulmonary Complications; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Childhood Large Cell Lymphoma; Recurrent Childhood Lymphoblastic Lymphoma; Recurrent Childhood Rhabdomyosarcoma; Recurrent Childhood Small Noncleaved Cell Lymphoma; Recurrent Neuroblastoma; Recurrent Wilms Tumor and Other Childhood Kidney Tumors; Recurrent/Refractory Childhood Hodgkin Lymphoma; Relapsing Chronic Myelogenous Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes

  9. Porcine reproductive and respiratory syndrome virus replicates in testicular germ cells, alters spermatogenesis, and induces germ cell death by apoptosis.

    PubMed Central

    Sur, J H; Doster, A R; Christian, J S; Galeota, J A; Wills, R W; Zimmerman, J J; Osorio, F A

    1997-01-01

    Like other arteriviruses, porcine reproductive and respiratory syndrome virus (PRRSV) is shed in semen, a feature that is critical for the venereal transmission of this group of viruses. In spite of its epidemiological importance, little is known of the association of PRRSV or other arteriviruses with gonadal tissues. We experimentally infected a group of boars with PRRSV 12068-96, a virulent field strain. By combined use of in situ hybridization and immunohistochemistry, we detected infection by PRRSV in the testes of these boars. The PRRSV testicular replication in testis centers on two types of cells: (i) epithelial germ cells of the seminiferous tubules, primarily spermatids and spermatocytes, and (ii) macrophages, which are located in the interstitium of the testis. Histopathologically, hypospermatogenesis, formation of multinucleated giant cells (MGCs), and abundant germ cell depletion and death were observed. We obtained evidence that such germ cell death occurs by apoptosis, as determined by a characteristic histologic pattern and evidence of massive DNA fragmentation detected in situ (TUNEL [terminal deoxynucleotidyltransferase-mediated digoxigenin-UTP nick end labeling] assay). Simultaneously with these testicular alterations, we observed that there is a significant increase in the number of immature sperm cells (mainly MGCs, spermatids, and spermatocytes) in the ejaculates of the PRRSV-inoculated boars and that these cells are infected with PRRSV. Our results indicate that PRRSV may infect target cells other than macrophages, that these infected cells can be primarily responsible for the excretion of infectious PRRSV in semen, and that PRRSV induces apoptosis in these germ cells in vivo. PMID:9371575

  10. Pulmonary neuroendocrine cells and neuroepithelial bodies in sudden infant death syndrome: potential markers of airway chemoreceptor dysfunction.

    PubMed

    Cutz, Ernest; Perrin, Donald G; Pan, Jie; Haas, Elisabeth A; Krous, Henry F

    2007-01-01

    Pulmonary neuroendocrine cells (PNEC), including neuroepithelial bodies (NEB), are amine- and peptide (for example, bombesin)-producing cells that function as hypoxia/hypercapnia-sensitive chemoreceptors that could be involved in the pathophysiology of sudden infant death syndrome (SIDS). We assessed morphometrically the frequency and size of PNEC/NEB in lungs of infants who died of SIDS (n = 21) and compared them to an equal number PNEC/NEB in lungs of age-matched control infants who died of accidental death or homicide, with all cases obtained from the San Diego SIDS/SUDC Research Project database. As a marker for PNEC/NEB we used an antibody against chromogranin A (CGA), and computer-assisted morphometric analysis was employed to determine the relative frequency of PNEC per airway epithelial area (% immunostained area, %IMS), the size of NEB, the number of nuclei/NEB, and the size of the NEB cells. The lungs of SIDS infants showed significantly greater %IMS of airway epithelium (2.72 +/- 0.28 [standard error of the mean, SEM] versus 1.88 +/- 0.24; P < 0.05) and larger NEB (1557 +/- 153 microm(2) versus 1151 +/- 106 microm(2); P < 0.05) compared to control infants. The size of NEB cells was also significantly increased in SIDS cases compared to the controls (180 +/- 6.39 microm(2) versus 157 +/- 8.0 microm(2); P < 0.05), indicating the presence of hypertrophy in addition to hyperplasia. Our findings support previous studies demonstrating hyperplasia of PNEC/NEB in lungs of infants who died of SIDS. These changes could be secondary to chronic hypoxia and/or could be attributable to maturational delay. Morphometric assessment and/or measurement of the secretory products of these cells (for example, CGA, bombesin) could provide a potential biological marker for SIDS.

  11. Medullary serotonergic network deficiency in the sudden infant death syndrome: review of a 15-year study of a single dataset.

    PubMed

    Kinney, H C; Filiano, J J; White, W F

    2001-03-01

    The sudden infant death syndrome (SIDS) is the leading cause of postneonatal infant mortality in the United States today, despite a dramatic 38% decrease in incidence due to a national risk reduction campaign advocating the supine sleep position. Our research in SIDS brainstems, beginning in 1985 and involving a single, large dataset, has become increasingly focused upon a specific neurotransmitter (serotonin) and specific territories (ventral medulla and regions of the medullary reticular formation that contain secrotonergic neurons). Based on this research, we propose that SIDS, or a subset of SIDS, is due to a developmental abnormality in a medullary network composed of (at least in part) rhombic lip-derived, serotonergic neurons, including in the caudal raphé and arcuate nucleus (putative human homologue of the cat respiratory chemosensitive fields); and this abnormality results in a failure of protective responses to life-threatening stressors (e.g. asphyxia, hypoxia, hypercapnia) during sleep as the infant passes through a critical period in homeostatic control. We call this the medullary serotonergic network deficiency hypothesis. We review the triple-risk model for SIDS, the development of the dataset using tissue autoradiography for analyzing neurotransmitter receptor binding; age-dependent baseline neurochemical findings in the human brainstem during early life; the evidence for serotonergic, rhombic lip, and ventral medullary deficits in at least some SIDS victim; possible mechanisms of sudden infant death related to these deficits; and potential causes of the deficits in the medullary serotonergic network in SIDS victims. We conclude with a summary of future directions in SIDS brainstem research.

  12. A case report of a pregnancy-related death caused by primary antiphospholipid antibody syndrome.

    PubMed

    Sun, Yingjian; Cui, Manhua; Zhu, Wanan; Xu, Weiling; Li, Na

    2014-01-01

    Primary antiphospholipid antibody syndrome (APS) is a rare clinical event in the People's Republic of China. As APS is easily neglected or misdiagnosed, a delayed treatment can result. The patient reported here was a 32-year-old female who died by systemic venous thrombosis on day 11 after a cesarean section delivery. Luckily, the baby survived. A blood test demonstrated that the patient's platelets were decreased at 19 weeks of gestation. Anti-cardolipin antibody and antiβ2GP1 (anti-β2-glycoprotein-I antibody) were positive at 36 weeks and 2 days of gestation. This patient was diagnosed with APS. Unfortunately, as physicians, we could not provide proper treatment as the patient's relatives were concerned that the proposed treatment would have negative effects on the infant's health. This clinical case strongly suggests that physicians need to appreciate that APS is a very serious condition, especially for pregnant women, and that proper treatment should be provided as early as possible to avoid a bad outcome, despite the fact that a cure for this disease is not currently available.

  13. A New Theory to Explain the Underlying Pathogenetic Mechanism of Sudden Infant Death Syndrome

    PubMed Central

    Lavezzi, Anna Maria

    2015-01-01

    The author, on the basis of numerous studies on the neuropathology of SIDS, performed on a very wide set of cases, first highlights the neuronal centers of the human brainstem involved in breathing control in perinatal life, with the pontine Kölliker–Fuse nucleus (KFN) as main coordinator. What emerges from this analysis is that the prenatal respiratory movements differ from those post-natally in two respects: (1) they are episodic, only aimed at the lung development and (2) they are abolished by hypoxia, not being of vital importance in utero, mainly to limit the consumption of oxygen. Then, as this fetal inhibitory reflex represents an important defense expedient, the author proposes a new original interpretation of the pathogenetic mechanism leading to SIDS. Infants, in a critical moment of the autonomic control development, in hypoxic conditions could awaken the reflex left over from fetal life and arrest breathing, as he did in similar situations in prenatal life, rather than promote the hyperventilation usually occurring to restore the normal concentration of oxygen. This behaviour obviously leads to a fatal outcome. This hypothesis is supported by immunohistochemical results showing in high percentage of SIDS victims, and not in age-matched infant controls, neurochemical alterations of the Kölliker–Fuse neurons, potentially indicative of their inactivation. The new explanation of SIDS blames a sort of auto-inhibition of the KFN functionality, wrongly arisen with the same protective purpose to preserve the life in utero, as trigger of the sudden infant death. PMID:26539157

  14. Medullary mediation of the laryngeal adductor reflex: A possible role in sudden infant death syndrome.

    PubMed

    Wang, Xiaolu; Guo, Ruichen; Zhao, Wenjing; Pilowsky, Paul M

    2016-06-01

    The laryngeal adductor reflex (LAR) is a laryngeal protective reflex. Vagal afferent polymodal sensory fibres that have cell bodies in the nodose ganglion, originate in the sub-glottal area of the larynx and upper trachea. These polymodal sensory fibres respond to mechanical or chemical stimuli. The central axons of these sensory vagal neurons terminate in the dorsolateral subnuclei of the tractus solitarius in the medulla oblongata. The LAR is a critical, reflex in the pathways that play a protective role in the process of ventilation, and the sychronisation of ventilation with other activities that are undertaken by the oropharyngeal systems including: eating, speaking and singing. Failure of the LAR to operate properly at any time after birth can lead to SIDS, pneumonia or death. Despite the critical nature of this reflex, very little is known about the central pathways and neurotransmitters involved in the management of the LAR and any disorders associated with its failure to act properly. Here, we review current knowledge concerning the medullary nuclei and neurochemicals involved in the LAR and propose a potential neural pathway that may facilitate future SIDS research.

  15. Sudden Infant Death Syndrome (SIDS) risk reduction and infant sleep location - moving the discussion forward.

    PubMed

    Ball, Helen L; Volpe, Lane E

    2013-02-01

    The notion that infant sleep environments are 'good' or 'bad' and that parents who receive appropriate instruction will modify their infant-care habits has been fundamental to SIDS reduction campaigns. However infant sleep location recommendations have failed to emulate the previously successful infant sleep position campaigns that dramatically reduced infant deaths. In this paper we discuss the conflict between 'safeguarding' and 'well-being', contradictory messages, and rejected advice regarding infant sleep location. Following a summary of the relevant background literature we argue that bed-sharing is not a modifiable infant-care practice that can be influenced by risk-education and simple recommendations. We propose that differentiation between infant-care practices, parental behaviors, and cultural beliefs would assist in the development of risk-reduction interventions. Failure to recognize the importance of infant sleep location to ethnic and sub-cultural identity, has led to inappropriate and ineffective risk-reduction messages that are rejected by their target populations. Furthermore transfer of recommendations from one geographic or cultural setting to another without evaluation of variation within and between the origin and destination populations has led to inappropriate targeting of groups or behaviors. We present examples of how more detailed research and culturally-embedded interventions could reorient discussion around infant sleep location.

  16. Glomerular Glucocorticoid Receptors Expression and Clinicopathological Types of Childhood Nephrotic Syndrome.

    PubMed

    Gamal, Yasser; Badawy, Ahlam; Swelam, Salwa; Tawfeek, Mostafa S K; Gad, Eman Fathalla

    2017-02-01

    Glucocorticoids are primary therapy of idiopathic nephrotic syndrome (INS). However, not all children respond to steroid therapy. We assessed glomerular glucocorticoid receptor expression in fifty-one children with INS and its relation to response to steroid therapy and to histopathological type. Clinical, laboratory and glomerular expression of glucocorticoid receptors were compared between groups with different steroid response. Glomerular glucocorticoid expression was slightly higher in controls than in minimal change early responders, which in turn was significantly higher than in minimal change late responders. There was significantly lower glomerular glucocorticoid receptor expression in steroid-resistance compared to early responders, late responders and controls. Glomerular glucocorticoid expression was significantly higher in all minimal change disease (MCD) compared to focal segmental glomerulosclerosis. In INS, response to glucocorticoid is dependent on glomerular expression of receptors and peripheral expression. Evaluation of glomerular glucocorticoid receptor expression at time of diagnosis of NS can predict response to steroid therapy.

  17. Serotoninergic receptor 1A in the sudden infant death syndrome brainstem medulla and associations with clinical risk factors.

    PubMed

    Machaalani, Rita; Say, Meichien; Waters, Karen A

    2009-03-01

    The immunoreactivity of the serotoninergic receptor subtype 1A (5HT(1A)R) was quantitatively analyzed in the human infant brainstem medulla (caudal and rostral levels). We hypothesized that immunoreactivity of 5HT(1A)R would be reduced in infants diagnosed with sudden infant death syndrome (SIDS). In particular that those infants with known clinical risk factors (including cigarette smoke exposure, bed sharing and sleep position) would have greater changes than those without clinical risks. Comparing SIDS (n = 67) to infants who died suddenly with another diagnosis (non-SIDS, n = 25), we found decreased 5HT(1A)R immunoreactivity in the majority of the nuclei studied at the rostral medulla level including dorsal motor nucleus of the vagus (DMNV), nucleus of the solitary tract, vestibular, and inferior olivary nucleus (ION). There was a significant relationship with all risk factors for 5HT(1A)R, especially for DMNV, suggesting that 5HT(1A)Rs are highly vulnerable to various insults within the SIDS DMNV. This study not only provides further evidence of abnormalities within the brainstem serotoninergic system of SIDS infants, but also shows that these changes may be associated with exposure to clinical risk factors.

  18. A re-audit of the use of definitions of sudden infant death syndrome (SIDS) in peer-reviewed literature.

    PubMed

    Byard, Roger W; Lee, Vivian

    2012-11-01

    The use of different definitions of sudden infant death syndrome (SIDS) may make comparison of data among studies difficult. Fifty randomly selected papers dealing with SIDS that were published between 2010 and 2011 in peer-reviewed journals were reviewed to determine whether one of three internationally accepted definitions of SIDS had been either written in the text or referenced. A significant improvement in the use of definitions has occurred since 2005, with the percentage of papers either quoting or referencing a standard definition increasing by 26%, from 42 to 68%. The 1989 NICHD definition remained the most commonly used definition (35.1%) followed by the 2004 San Diego definition (26.3%). Although the percentage of papers where either no definition was provided or where an idiosyncratic or mis-cited definition was used fell 26%, from 58 to 32%, nearly one in three papers published on SIDS in peer-reviewed journals that were included in this study still did not cite a standard definition.

  19. Serotonin Metabolites in the Cerebrospinal Fluid in the Sudden Infant Death Syndrome: In Search of a Biomarker of Risk

    PubMed Central

    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.

    2015-01-01

    Clinical biomarkers are urgently needed in the sudden infant death syndrome (SIDS) to identify living infants at risk because it because it occurs without occurs without clinical warning. Previously, we reported multiple serotonergic (5-HT) abnormalities in nuclei of the medulla oblongata that help mediate protective responses to homeostatic stressors. Here we test the hypothesis that 5-HT-related measures are abnormal in the cerebrospinal fluid (CSF) of SIDS infants compared to autopsy controls, as a first step towards their assessment as diagnostic biomarkers of medullary pathology. 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 57 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 use of 5-HIAA, HVA, Trp or Tyr measurements as CSF biomarkers of 5-HT medullary pathology in infants at risk. They provide, however, 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. PMID:24423636

  20. Identification of Fusarium virguliforme FvTox1-Interacting Synthetic Peptides for Enhancing Foliar Sudden Death Syndrome Resistance in Soybean

    PubMed Central

    Wang, Bing; Swaminathan, Sivakumar; Bhattacharyya, Madan K.

    2015-01-01

    Soybean is one of the most important crops grown across the globe. In the United States, approximately 15% of the soybean yield is suppressed due to various pathogen and pests attack. Sudden death syndrome (SDS) is an emerging fungal disease caused by Fusarium virguliforme. Although growing SDS resistant soybean cultivars has been the main method of controlling this disease, SDS resistance is partial and controlled by a large number of quantitative trait loci (QTL). A proteinacious toxin, FvTox1, produced by the pathogen, causes foliar SDS. Earlier, we demonstrated that expression of an anti-FvTox1 single chain variable fragment antibody resulted in reduced foliar SDS development in transgenic soybean plants. Here, we investigated if synthetic FvTox1-interacting peptides, displayed on M13 phage particles, can be identified for enhancing foliar SDS resistance in soybean. We screened three phage-display peptide libraries and discovered four classes of M13 phage clones displaying FvTox1-interacting peptides. In vitro pull-down assays and in vivo interaction assays in yeast were conducted to confirm the interaction of FvTox1 with these four synthetic peptides and their fusion-combinations. One of these peptides was able to partially neutralize the toxic effect of FvTox1 in vitro. Possible application of the synthetic peptides in engineering SDS resistance soybean cultivars is discussed. PMID:26709700

  1. Expression of brain-derived neurotrophic factor and TrkB receptor in the sudden infant death syndrome brainstem.

    PubMed

    Tang, Samantha; Machaalani, Rita; Waters, Karen A

    2012-01-15

    This study compared the expression of BDNF (proBDNF and rhBDNF forms) and its receptor TrkB, in the medulla of sudden infant death syndrome (SIDS) infants and infants who died from known causes (non-SIDS). This study also evaluated these markers in association with SIDS clinical risk factors including, sleep position, cigarette smoke exposure and gender. Brainstem tissue was immunohistochemically stained and quantitative analyses were made for eight nuclei of the caudal and rostral medulla. Compared to non-SIDS, SIDS infants had lower rhBDNF in the caudal nucleus of the solitary tract and higher TrkB in the caudal dorsal motor nucleus of the vagus. Within the SIDS cohort, prone sleep position was associated with lower rhBDNF in the caudal arcuate nucleus, and cigarette smoke exposure was associated with lower rhBDNF and TrkB in the inferior olivary nucleus. Abnormal expression of BDNF and TrkB suggests that neuroprotective functions of the BDNF/TrkB system may be reduced in respiratory-related nuclei of SIDS infants.

  2. Lack of Association of the Serotonin Transporter Polymorphism With the Sudden Infant Death Syndrome in the San Diego Dataset

    PubMed Central

    Paterson, David S.; Rivera, Keith D.; Broadbelt, Kevin G.; Trachtenberg, Felicia L.; Belliveau, Richard A.; Holm, Ingrid A.; Haas, Elisabeth A.; Stanley, Christina; Krous, Henry F.; Kinney, Hannah C.; Markianos, Kyriacos

    2011-01-01

    Dysfunction of medullary serotonin (5-HT)-mediated respiratory and autonomic function is postulated to underlie the pathogenesis of the majority of sudden infant death syndrome (SIDS) cases. Several studies have reported an increased frequency of the LL genotype and L allele of the 5-HT transporter (5-HTT) gene promoter polymorphism (5-HTTLPR), which is associated with increased transcriptional activity and 5-HT transport in vitro, in SIDS cases compared with controls. These findings raise the possibility that this polymorphism contributes to or exacerbates existing medullary 5-HT dysfunction in SIDS. In this study, we tested the hypothesis that the frequency of LL genotype and L allele are higher in 179 SIDS cases compared with 139 controls of multiple ethnicities in the San Diego SIDS Dataset. We observed no significant association of genotype or allele with SIDS cases either in the total cohort or on stratification for ethnicity. These observations do not support previous findings that the L allele and/or LL genotype of the 5-HTTLPR are associated with SIDS. PMID:20661167

  3. Lifestyle and metabolic syndrome in adult survivors of childhood cancer: a report from the St. Jude Lifetime Cohort Study

    PubMed Central

    Smith, Webb A.; Li, Chenghong; Nottage, Kerri; Mulrooney, Daniel A.; Armstrong, Gregory T.; Lanctot, Jennifer Q.; Chemaitilly, Wassim; Laver, Joseph H.; Srivastava, Deo Kumar; Robison, Leslie L.; Hudson, Melissa M.; Ness, Kirsten K.

    2014-01-01

    Background Childhood cancer survivors (CCS) are at increased risk for the metabolic syndrome (MetSyn), which may be reduced with lifestyle modifications. The purpose of this investigation was to characterize lifestyle habits and associations with the MetSyn among CCS. Methods CCS ≥10 years from diagnosis, older than 18 years of age, and participating in the St. Jude Lifetime Cohort Study completed medical and laboratory tests and a food frequency questionnaire (FFQ). The Third National Cholesterol Education Program Adult Treatment Panel (NCEP-ATPIII) criteria were used to classify participants with MetSyn. Anthropometric, FFQ and self-reported physical activity data were used to characterize lifestyle habits according to World Cancer Research Fund/American Institute for Cancer Research (WCRF/AICR) recommendations. Those who met ≥4 of 7 recommendations were classified as following guidelines. Sex stratified log-binomial regression models were used to evaluate associations between dietary/lifestyle habits and MetSyn, adjusted for age, age at cancer diagnosis, cranial radiation, education, and household income. Results Among 1598 CCS (49.2% male, median age 32.7 years, range, 18.9–60.0 years), 31.8% met criteria for MetSyn and 27.0 % followed WCRF/AICR guidelines. Females who did not follow WCRF/AICR guidelines were 2.4 (95% CI 1.7–3.3) and males were 2.2 (95% CI 1.6–3.0) times more likely to have MetSyn than those who followed WCRF/AICR guidelines. Conclusion Adherance to a heart healthy lifestyle is associated with lower risk of MetSyn among CCS. There is a need to determine if lifestyle interventions prevent or remediate MetSyn in CCS. PMID:25070001

  4. Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speech.

    PubMed

    Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea

    2016-05-01

    Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed.

  5. Predicting the response to cytotoxic therapy for childhood nephrotic syndrome: superiority of response to corticosteroid therapy over histopathologic patterns.

    PubMed

    Schulman, S L; Kaiser, B A; Polinsky, M S; Srinivasan, R; Baluarte, H J

    1988-12-01

    To determine the utility of steroid response in classifying childhood nephrotic syndrome, we reviewed 119 biopsies in 92 children aged 1 to 16 years who had been followed for a mean of 7.2 years. Steroid responses were classified as steroid resistant, steroid dependent, and frequent relapser as defined by the International Study of Kidney Disease in Children. Biopsy specimens were classified as showing focal glomerulosclerosis (FSGS) in 39 children, as showing lipoid nephrosis in 28, and as questionable in another 25 with either focal global sclerosis, IgM nephropathy, or mesangial prominence and tubular changes. A strong agreement (p less than 0.01) was found between children whose FSGS was steroid resistant and children whose lipoid nephrosis resulted in frequent relapses. The length of the remission after therapy with chlorambucil or cyclophosphamide was determined in 84 children. A significantly shorter length of remission after cytotoxic drug therapy (p less than 0.05) was identified for patients with FSGS versus those with lipoid nephrosis; this difference became more significant for steroid-resistant patients in comparison with those who were steroid dependent or were frequent relapsers (p less than 0.005). Among all steroid-resistant patients, those with FSGS had shorter remissions than patients with other histologic changes (p less than 0.001). The data suggest that patterns of response to corticosteroid therapy correlate with the histologic abnormality. Thus steroid-sensitive patients need not undergo renal biopsy before receiving cytotoxic drugs. Steroid-resistant patients would benefit from a biopsy, because the findings tend to predict the outcome.

  6. Breastfeeding and early infection in the aetiology of childhood leukaemia in Down syndrome

    PubMed Central

    Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Pananá, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L; Perez-Vera, P; Alvarado-Ibarra, M; Salamanca-Gómez, F; Fajardo-Gutierrez, A; Mejía-Aranguré, J M

    2009-01-01

    Background: For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Methods: Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children ⩽6 and >6 years old. Results: Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43–1.61), 1.70 (0.82–3.52); and 3.57 (1.59–8.05), respectively. A similar result was obtained when only ALL was analysed. Conclusion: We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL. PMID:19707206

  7. Validation of a clinical screening instrument for tumour predisposition syndromes in patients with childhood cancer (TuPS): protocol for a prospective, observational, multicentre study

    PubMed Central

    Postema, Floor A M; Hopman, Saskia M J; de Borgie, Corianne A J M; Hammond, Peter; Hennekam, Raoul C; Merks, Johannes H M; Aalfs, Cora M; Anninga, Jakob K; Berger, Lieke PV; Bleeker, Fonnet E; de Bont, Eveline SJM; de Borgie, Corianne AJM; Dommering, Charlotte J; van Eijkelenburg, Natasha KA; Hammond, Peter; Hennekam, Raoul C; van den Heuvel-Eibrink, Marry M; Hopman, Saskia MJ; Jongmans, Marjolijn CJ; Kors, Wijnanda A; Letteboer, Tom GW; Loeffen, Jan LCM; Merks, Johannes HM; Olderode-Berends, Maran JW; Postema, Floor AM; Wagner, Anja

    2017-01-01

    Introduction Recognising a tumour predisposition syndrome (TPS) in patients with childhood cancer is of significant clinical relevance, as it affects treatment, prognosis and facilitates genetic counselling. Previous studies revealed that only half of the known TPSs are recognised during standard paediatric cancer care. In current medical practice it is impossible to refer every patient with childhood cancer to a clinical geneticist, due to limited capacity for routine genetic consultation. Therefore, we have developed a screening instrument to identify patients with childhood cancer with a high probability of having a TPS. The aim of this study is to validate the clinical screening instrument for TPS in patients with childhood cancer. Methods and analysis This study is a prospective nationwide cohort study including all newly diagnosed patients with childhood cancer in the Netherlands. The screening instrument consists of a checklist, two- and three-dimensional photographic series of the patient. 2 independent clinical geneticists will assess the content of the screening instrument. If a TPS is suspected based on the instrument data and thus further evaluation is indicated, the patient will be invited for full genetic consultation. A negative control group consists of 20% of the patients in whom a TPS is not suspected based on the instrument; they will be randomly invited for full genetic consultation. Primary outcome measurement will be sensitivity of the instrument. Ethics and dissemination The Medical Ethical Committee of the Academic Medical Centre stated that the Medical Research Involving Human Subjects Act does not apply to this study and that official approval of this study by the Committee was not required. The results will be offered for publication in peer-reviewed journals and presented at International Conferences on Oncology and Clinical Genetics. The clinical data gathered in this study will be available for all participating centres. Trial

  8. Long-term Impact of Temporal Sequence from Childhood Obesity to Hyperinsulinemia on Adult Metabolic Syndrome and Diabetes: The Bogalusa Heart Study

    PubMed Central

    Zhang, Tao; Zhang, Huijie; Li, Ying; Li, Shengxu; Fernandez, Camilo; Bazzano, Lydia; He, Jiang; Xue, Fuzhong; Chen, Wei

    2017-01-01

    This study aims to delineate the temporal relations between body mass index (BMI) and insulin in childhood and their impact on adult metabolic syndrome (MetS) and type 2 diabetes mellitus (T2DM).The longitudinal cohort consisted of 609 whites and 339 blacks who had BMI and fasting insulin measured twice in childhood (mean age = 10.5 years at baseline and 15.9 years at follow-up). Incident MetS and T2DM were identified in adulthood (mean age = 30.5 years). Cross-lagged panel and mediation analysis models were used. After adjusting for age, race, gender, and follow-up years, the cross-lagged path coefficient of BMI → insulin (β = 0.326, p < 0.001) was significantly greater than that of insulin → BMI (β = −0.023, p = 0.207) in childhood, with p < 0.001 for the difference in βs. The path coefficient for BMI → insulin was significantly greater in MetS than in non-MetS groups (0.510 vs 0.190, p < 0.001), and greater in hyperglycemia than in normoglycemia groups (0.503 vs 0.285, p = 0.026). The mediation effect of childhood insulin on the BMI-MetS and BMI-hyperglycemia associations was estimated at 19.2% (p < 0.001) and 18.3% (p < 0.001), respectively. These findings provide evidence that higher BMI levels precede hyperinsulinemia during childhood, and this one-directional relation plays a significant role in the development of MetS and T2DM in adult life. PMID:28230104

  9. Animal models used to test the interactions between infectious agents and products of cigarette smoked implicated in sudden infant death syndrome.

    PubMed

    Sayers, N M; Drucker, D B

    1999-08-01

    Animal test systems are reviewed that have relevance to sudden infant death syndrome (SIDS) are reviewed. These test interactions between infectious agents (or their toxins) and products of cigarette smoke. Infectious agents implicated in SIDS include members of the enterobacteria and clostridia, Staphylococcus aureus and Streptococcus pyogenes. Smoking is thought to be the single most preventable cause of SIDS. Tobacco smoke contains many extremely toxic products including cyanide and nicotine. Many animal test systems are available to examine the potency of bacterial toxins and smoke-derived components. These include mice, hamsters, rats and chick embryos. Such systems reveal synergy between bacterial toxins, especially endotoxin and superantigens. They have also demonstrated potentiation of low levels of bacterial toxin by low levels of both nicotine and its primary metabolite, cotinine. These findings suggest a possible causal explanation for the fact that passive exposure to cigarette smoke is a risk factor in sudden infant death syndrome.

  10. NOX1 is responsible for cell death through STAT3 activation in hyperoxia and is associated with the pathogenesis of Acute Respiratory Distress Syndrome

    PubMed Central

    Carnesecchi, Stephanie; Dunand-Sauthier, Isabelle; Zanetti, Filippo; Singovski, Grigory; Deffert, Christine; Donati, Yves; Cagarelli, Thomas; Pache, Jean-Claude; Krause, Karl-Heinz; Reith, Walter; Barazzone-Argiroffo, Constance

    2014-01-01

    Reactive oxygen species (ROS) contribute to alveolar cell death in Acute Respiratory Distress Syndrome (ARDS) and we previously demonstrated that NOX1-derived ROS contributed to hyperoxia-induced alveolar cell death in mice. The study investigates whether NOX1 expression is modulated in epithelial cells concomitantly to cell death and associated to STAT3 signaling in the exudative phase of ARDS. In addition, the role of STAT3 activation in NOX1-dependent epithelial cell death was confirmed by using a lung epithelial cell line and in mice exposed to hyperoxia. NOX1 expression, cell death and STAT3 staining were evaluated in the lungs of control and ARDS patients by immunohistochemistry. In parallel, a stable NOX1-silenced murine epithelial cell line (MLE12) and NOX1-deficient mice were used to characterize signalling pathways. In the present study, we show that NOX1 is detected in alveolar epithelial cells of ARDS patients in the exudative stage. In addition, increased alveolar epithelial cell death and phosphorylated STAT3 are observed in ARDS patients and associated with NOX1 expression. Phosphorylated STAT3 is also correlated with TUNEL staining. We also confirmed that NOX1-dependent STAT3 activation participates to alveolar epithelial cell death. Silencing and acute inhibition of NOX1 in MLE12 led to decreased cell death and cleaved-caspase 3 induced by hyperoxia. Additionally, hyperoxia-induced STAT3 phosphorylation is dependent on NOX1 expression and associated with cell death in MLE12 and mice. This study demonstrates that NOX1 is involved in human ARDS pathophysiology and is responsible for the damage occurring in alveolar epithelial cells at least in part via STAT3 signalling pathways. PMID:24551274

  11. Neuroanatomical phenotype of Klinefelter syndrome in childhood: a voxel-based morphometry study.

    PubMed

    Bryant, Daniel M; Hoeft, Fumiko; Lai, Song; Lackey, John; Roeltgen, David; Ross, Judith; Reiss, Allan L

    2011-05-04

    Klinefelter syndrome (KS) is a genetic disorder characterized by a supernumerary X chromosome. As such, KS offers a naturally occurring human model for the study of both X-chromosome gene expression and androgen on brain development. Previous neuroimaging studies have revealed neuroanatomical variations associated with KS, but have differed widely with respect to subject inclusion criteria, including mosaicism, pubertal status, and history of testosterone replacement therapy (TRT), all factors likely to influence neurodevelopment. We conducted a voxel-based morphometry study of regional gray and white matter (GM and WM, respectively) volumes in 31 KS males (mean age, 9.69 ± 1.70 years) and 36 typically developing (TD) male controls (10.99 ± 1.72 years). None of the participants with KS had received TRT, and all were prepubertal and had nonmosaic 47,XXY karyotypes. After controlling for age, males with KS showed trends (0.05 < p < 0.10) for significantly reduced total gray matter volume (TGMV) and total white matter volume (TWMV), relative to TD males. After controlling for TGMV and age, the KS group had significantly increased sensorimotor and parietal-occipital GM and significantly reduced amygdalar, hippocampal, insular, temporal, and inferior frontal GM relative to TD controls. After controlling for TWMV and age, the KS group had significantly increased left parietal WM as well as significantly reduced frontal and temporal WM. These findings are indicative of a characteristic prepubertal neuroanatomical phenotype that may be associated with cognitive-behavioral features of KS. This work offers new insight into the relationships among X-chromosome gene expression, neuroanatomy, and cognitive-behavioral functions impaired in KS, including language and attention.

  12. Prospective study on anti‐ganglioside antibodies in childhood Guillain–Barré syndrome

    PubMed Central

    Schessl, J; Koga, M; Funakoshi, K; Kirschner, J; Muellges, W; Weishaupt, A; Gold, R; Korinthenberg, R

    2007-01-01

    Background Antiganglioside antibodies have been reported to play a part in the pathophysiology of Guillain–Barré syndrome (GBS). Aims To investigate the prevalence and correlation of anti‐ganglioside antibodies with clinical data in children with GBS in a multicentre clinical trial. Methods Immunoglobin (Ig)G and IgM to GM1, GM1b, GD1a, GalNAc–GD1a, GD1b, GT1a, and GQ1b were measured by ELISA in sera obtained before treatment. In addition, serological testing for Campylobacter jejuni was carried out. In parallel, a group of adults with GBS and a control group of children without GBS or other inflammatory diseases were evaluated. Results Sera from 63 children with GBS, 36 adults with GBS and 41 children without GBS were evaluated. Four of the children with GBS showed positive IgG to GM1, in one case combined with anti‐GalNAc–GD1a and in one with anti‐GD1b. Two others showed isolated positive IgG to GD1b and GT1a. One showed increased anti‐GalNAc–GD1a IgM. In 5 of the 63 children, serological evidence of a recent infection with C jejuni was found, and this correlated significantly with the raised antibodies (p = 0.001). In the control group without GBS, no child showed positive IgG, but one showed anti‐GalNAc–GD1a IgM. Compared with the adults with GBS, the frequency of antibodies in children was insignificantly lower. In our study, patients with positive antibodies did not show a more severe GBS course or worse outcome than those who were seronegative, and we could not show an increased incidence of axonal dysfunction. Conclusions In some children with GBS, one can detect raised IgG against various gangliosides, similar to that in adults. A recent infection with C jejuni is markedly associated with the presence of these antibodies. However, in contrast with what has been reported in adults, in this study we were unable to show a negative effect of these findings on the clinical course. PMID:16920757

  13. Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome.

    PubMed

    Panigrahy, A; Filiano, J; Sleeper, L A; Mandell, F; Valdes-Dapena, M; Krous, H F; Rava, L A; Foley, E; White, W F; Kinney, H C

    2000-05-01

    The sudden infant death syndrome (SIDS) is postulated to result from a failure of homeostatic responses to life-threatening challenges (e.g. asphyxia, hypercapnia) during sleep. The ventral medulla participates in sleep-related homeostatic responses, including chemoreception, arousal, airway reflex control, thermoregulation, respiratory drive, and blood pressure regulation, in part via serotonin and its receptors. The ventral medulla in humans contains the arcuate nucleus, in which we have shown isolated defects in muscarinic and kainate receptor binding in SIDS victims. We also have demonstrated that the arcuate nucleus is anatomically linked to the nucleus raphé obscurus, a medullary region with serotonergic neurons. We tested the hypothesis that serotonergic receptor binding is decreased in both the arcuate nucleus and nucleus raphé obscurus in SIDS victims. Using quantitative autoradiography, 3H-lysergic acid diethylamide (3H-LSD binding) to serotonergic receptors (5-HT1A-D and 5-HT2 subtypes) was measured blinded in 19 brainstem nuclei. Cases were classified as SIDS (n = 52), acute controls (infants who died suddenly and in whom a complete autopsy established a cause of death) (n = 15), or chronic cases with oxygenation disorders (n = 17). Serotonergic binding was significantly lowered in the SIDS victims compared with controls in the arcuate nucleus (SIDS, 6 +/- 1 fmol/mg tissue; acutes, 19 +/- 1; and chronics, 16 +/- 1; p = 0.0001) and n. raphé obscurus (SIDS, 28 +/- 3 fmol/mg tissue; acutes, 66 +/- 6; and chronics, 59 +/- 1; p = 0.0001). Binding, however, was also significantly lower (p < 0.05) in 4 other regions that are integral parts of the medullary raphé/serotonergic system, and/or are derived, like the arcuate nucleus and nucleus raphé obscurus, from the same embryonic anlage (rhombic lip). These data suggest that a larger neuronal network than the arcuate nucleus alone is involved in the pathogenesis of SIDS, that is, a network composed of inter

  14. Ependymal alterations in sudden intrauterine unexplained death and sudden infant death syndrome: possible primary consequence of prenatal exposure to cigarette smoking

    PubMed Central

    2010-01-01

    Background The ependyma, the lining providing a protective barrier and filtration system separating brain parenchyma from cerebrospinal fluid, is still inadequately understood in humans. In this study we aimed to define, by morphological and immunohistochemical methods, the sequence of developmental steps of the human ependyma in the brainstem (ventricular ependyma) and thoracic spinal cord (central canal ependyma) of a large sample of fetal and infant death victims, aged from 17 gestational weeks to 8 postnatal months. Additionally, we investigated a possible link between alterations of this structure, sudden unexplained fetal and infant death and maternal smoking. Results Our results demonstrate that in early fetal life the human ependyma shows a pseudostratified cytoarchitecture including many tanycytes and ciliated cells together with numerous apoptotic and reactive astrocytes in the subependymal layer. The ependyma is fully differentiated, with a monolayer of uniform cells, after 32 to 34 gestational weeks. We observed a wide spectrum of ependymal pathological changes in sudden death victims, such as desquamation, clusters of ependymal cells in the subventricular zone, radial glial cells, and the unusual presence of neurons within and over the ependymal lining. These alterations were significantly related to maternal smoking in pregnancy. Conclusions We conclude that in smoking mothers, nicotine and its derivatives easily reach the cerebrospinal fluid in the fetus, immediately causing ependymal damage. Consequently, we suggest that the ependyma should be examined in-depth first in victims of sudden fetal or infant death with mothers who smoke. PMID:20642831

  15. Prenatal nicotine-exposure alters fetal autonomic activity and medullary neurotransmitter receptors: implications for sudden infant death syndrome.

    PubMed

    Duncan, Jhodie R; Garland, Marianne; Myers, Michael M; Fifer, William P; Yang, May; Kinney, Hannah C; Stark, Raymond I

    2009-11-01

    During pregnancy, exposure to nicotine and other compounds in cigarette smoke increases the risk of the sudden infant death syndrome (SIDS) two- to fivefold. Serotonergic (5-HT) abnormalities are found, in infants who die of SIDS, in regions of the medulla oblongata known to modulate cardiorespiratory function. Using a baboon model, we tested the hypothesis that prenatal exposure to nicotine alters 5-HT receptor and/or transporter binding in the fetal medullary 5-HT system in association with cardiorespiratory dysfunction. At 87 (mean) days gestation (dg), mothers were continuously infused with saline (n = 5) or nicotine (n = 5) at 0.5 mg/h. Fetuses were surgically instrumented at 129 dg for cardiorespiratory monitoring. Cesarean section delivery and retrieval of fetal medulla were performed at 161 (mean) dg for autoradiographic analyses of nicotinic and 5-HT receptor and transporter binding. In nicotine-exposed fetuses, high-frequency heart rate variability was increased 55%, possibly reflecting increases in the parasympathetic control of heart rate. This effect was more pronounced with greater levels of fetal breathing and age. These changes in heart rate variability were associated with increased 5-HT(1A) receptor binding in the raphé obscurus (P = 0.04) and increased nicotinic receptor binding in the raphé obscurus and vagal complex (P < 0.05) in the nicotine-exposed animals compared with controls (n = 6). The shift in autonomic balance in the fetal primate toward parasympathetic predominance with chronic exposure to nicotine may be related, in part, to abnormal 5-HT-nicotine alterations in the raphé obscurus. Thus increased risk for SIDS due to maternal smoking may be partly related to the effects of nicotine on 5-HT and/or nicotinic receptors.

  16. Contributions of Fusarium virguliforme and Heterodera glycines to the Disease Complex of Sudden Death Syndrome of Soybean

    PubMed Central

    Westphal, Andreas; Li, Chunge; Xing, Lijuan; McKay, Alan; Malvick, Dean

    2014-01-01

    Background Sudden death syndrome (SDS) of soybean caused by Fusarium virguliforme spreads and reduces soybean yields through the North Central region of the U.S. The fungal pathogen and Heterodera glycines are difficult to manage. Methodology/Principal Findings The objective was to determine the contributions of H. glycines and F. virguliforme to SDS severity and effects on soybean yield. To quantify DNA of F. virguliforme in soybean roots and soil, a specific real time qPCR assay was developed. The assay was used on materials from soybean field microplots that contained in a four-factor factorial-design: (i) untreated or methyl bromide-fumigated; (ii) non-infested or infested with F. virguliforme; (iii) non-infested or infested with H. glycines; (iv) natural precipitation or additional weekly watering. In years 2 and 3 of the trial, soil and watering treatments were maintained. Roots of soybean ‘Williams 82’ were collected for necrosis ratings at the full seed growth stage R6. Foliar symptoms of SDS (area under the disease progress curve, AUDPC), root necrosis, and seed yield parameters were related to population densities of H. glycines and the relative DNA concentrations of F. virguliforme in the roots and soil. The specific and sensitive real time qPCR was used. Data from microplots were introduced into models of AUDPC, root necrosis, and seed yield parameters with the frequency of H. glycines and F. virguliforme, and among each other. The models confirmed the close interrelationship of H. glycines with the development of SDS, and allowed for predictions of disease risk based on populations of these two pathogens in soil. Conclusions/Significance The results modeled the synergistic interaction between H. glycines and F. virguliforme quantitatively in previously infested field plots and explained previous findings of their interaction. Under these conditions, F. virguliforme was mildly aggressive and depended on infection of H. glycines to cause highly

  17. Prenatal nicotine-exposure alters fetal autonomic activity and medullary neurotransmitter receptors: implications for sudden infant death syndrome

    PubMed Central

    Duncan, Jhodie R.; Garland, Marianne; Myers, Michael M.; Fifer, William P.; Yang, May; Stark, Raymond I.

    2009-01-01

    During pregnancy, exposure to nicotine and other compounds in cigarette smoke increases the risk of the sudden infant death syndrome (SIDS) two- to fivefold. Serotonergic (5-HT) abnormalities are found, in infants who die of SIDS, in regions of the medulla oblongata known to modulate cardiorespiratory function. Using a baboon model, we tested the hypothesis that prenatal exposure to nicotine alters 5-HT receptor and/or transporter binding in the fetal medullary 5-HT system in association with cardiorespiratory dysfunction. At 87 (mean) days gestation (dg), mothers were continuously infused with saline (n = 5) or nicotine (n = 5) at 0.5 mg/h. Fetuses were surgically instrumented at 129 dg for cardiorespiratory monitoring. Cesarean section delivery and retrieval of fetal medulla were performed at 161 (mean) dg for autoradiographic analyses of nicotinic and 5-HT receptor and transporter binding. In nicotine-exposed fetuses, high-frequency heart rate variability was increased 55%, possibly reflecting increases in the parasympathetic control of heart rate. This effect was more pronounced with greater levels of fetal breathing and age. These changes in heart rate variability were associated with increased 5-HT1A receptor binding in the raphé obscurus (P = 0.04) and increased nicotinic receptor binding in the raphé obscurus and vagal complex (P < 0.05) in the nicotine-exposed animals compared with controls (n = 6). The shift in autonomic balance in the fetal primate toward parasympathetic predominance with chronic exposure to nicotine may be related, in part, to abnormal 5-HT-nicotine alterations in the raphé obscurus. Thus increased risk for SIDS due to maternal smoking may be partly related to the effects of nicotine on 5-HT and/or nicotinic receptors. PMID:19729586

  18. The Alteration of Neonatal Raphe Neurons by Prenatal-Perinatal Nicotine. Meaning for Sudden Infant Death Syndrome.

    PubMed

    Cerpa, Verónica J; Aylwin, María de la Luz O; Beltrán-Castillo, Sebastián; Bravo, Eduardo U; Llona, Isabel R; Richerson, George B; Eugenín, Jaime L

    2015-10-01

    Nicotine may link maternal cigarette smoking with respiratory dysfunctions in sudden infant death syndrome (SIDS). Prenatal-perinatal nicotine exposure blunts ventilatory responses to hypercapnia and reduces central respiratory chemoreception in mouse neonates at Postnatal Days 0 (P0) to P3. This suggests that raphe neurons, which are altered in SIDS and contribute to central respiratory chemoreception, may be affected by nicotine. We therefore investigated whether prenatal-perinatal nicotine exposure affects the activity, electrical properties, and chemosensitivity of raphe obscurus (ROb) neurons in mouse neonates. Osmotic minipumps, implanted subcutaneously in 5- to 7-day-pregnant CF1 mice, delivered nicotine bitartrate (60 mg kg(-1) d(-1)) or saline (control) for up to 28 days. In neonates, ventilation was recorded by head-out plethysmography, c-Fos (neuronal activity marker), or serotonin autoreceptors (5HT1AR) were immunodetected using light microscopy, and patch-clamp recordings were made from raphe neurons in brainstem slices under normocarbia and hypercarbia. Prenatal-perinatal nicotine exposure decreased the hypercarbia-induced ventilatory responses at P1-P5, reduced both the number of c-Fos-positive ROb neurons during eucapnic normoxia at P1-P3 and their hypercapnia-induced recruitment at P3, increased 5HT1AR immunolabeling of ROb neurons at P3-P5, and reduced the spontaneous firing frequency of ROb neurons at P3 without affecting their CO2 sensitivity or their passive and active electrical properties. These findings reveal that prenatal-perinatal nicotine reduces the activity of neonatal ROb neurons, likely as a consequence of increased expression of 5HT1ARs. This hypoactivity may change the functional state of the respiratory neural network leading to breathing vulnerability and chemosensory failure as seen in SIDS.

  19. Heat stress and sudden infant death syndrome--stress gene expression after exposure to moderate heat stress.

    PubMed

    Rohde, Marianne Cathrine; Corydon, Thomas Juhl; Hansen, Jakob; Pedersen, Christina Bak; Schmidt, Stinne P; Gregersen, Niels; Banner, Jytte

    2013-10-10

    The aim of the present study was to investigate stress gene expression in cultured primary fibroblasts established from Achilles tendons collected during autopsies from sudden infant death syndrome (SIDS) cases, and age-matched controls (infants dying in a traumatic event). Expression of 4 stress responsive genes, HSPA1B, HSPD1, HMOX1, and SOD2, was studied by quantitative reverse transcriptase PCR analysis of RNA purified from cells cultured under standard or various thermal stress conditions. The expression of all 4 genes was highly influenced by thermal stress in both SIDS and control cells. High interpersonal variance found in the SIDS group indicated that they represented a more heterogeneous group than controls. The SIDS group responded to thermal stress with a higher expression of the HSPA1B and HSPD1 genes compared to the control group, whereas no significant difference was observed in the expression of SOD2 and HMOX1 between the two groups. The differences were related to the heat shock treatment as none of the genes were expressed significantly different in SIDS at base levels at 37 °C. SOD2 and HMOX1 were up regulated in both groups, for SOD2 though the expression was lower in SIDS at all time points measured, and may be less related to heat stress. Being found dead in the prone position (a known risk factor for SIDS) was related to a lower HSPA1B up-regulation in SIDS compared to SIDS found on their side or back. The study demonstrates the potential usefulness of gene expression studies using cultured fibroblasts established from deceased individuals as a tool for molecular and pathological investigations in forensic and biomedical sciences.

  20. Life and Death of a Child with Down Syndrome and a Congenital Heart Condition: Experiences of Six Couples

    ERIC Educational Resources Information Center

    Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances

    2010-01-01

    Individuals with Down syndrome are at increased risk of congenital heart conditions (CHCs), and mortality is higher in people with Down syndrome and a CHC than those without (J. C. Vis et al., 2009). As a consequence, parents of children with Down syndrome and a CHC are more likely to outlive their child. In this research, semistructured…

  1. Locked-in syndrome in three children with Guillain-Barré syndrome.

    PubMed

    Medici, Conrado; Gonzalez, Gabriel; Cerisola, Alfredo; Scavone, Cristina

    2011-08-01

    Locked-in syndrome is a rare disorder in childhood. It resembles brain death, but patients are fully conscious, and incapable of communicating because of the complete paralysis of voluntary muscles. Although it can be caused by Guillain-Barré syndrome, it is rarely reported in pediatrics. We describe three pediatric cases of locked-in syndrome in patients with Guillain-Barré syndrome presenting acute tetraplegia, areflexia, cranial nerve involvement, and albuminocytologic dissociation in the cerebrospinal fluid. Electrophysiologic studies indicated acute motor axonal polyradiculoneuropathy in one patient, and acute motor sensory axonal polyradiculoneuropathy in the other two. Most Guillain-Barré syndrome patients with locked-in syndrome demonstrate nerve inexcitability in neurophysiologic studies, poor clinical outcomes, and increased risk of sequelae.

  2. Boussignac CPAP system for brain death confirmation with apneic test in case of acute lung injury/adult respiratory distress syndrome – series of cases

    PubMed Central

    Wieczorek, Andrzej; Gaszynski, Tomasz

    2015-01-01

    Introduction There are some patients with severe respiratory disturbances like adult respiratory distress syndrome (ARDS) and suspicion of brain death, for whom typical performance of the apneic test is difficult to complete because of quick desaturation and rapid deterioration without effective ventilation. To avoid failure of brain death confirmation and possible loss of organ donation another approach to apneic test is needed. We present two cases of patients with clinical symptoms of brain death, with lung pathology (acute lung injury, ARDS, lung embolism and lung infection), in whom apneic tests for recognizing brain death were difficult to perform. During typical performance of apneic test involving the use of oxygen catheter for apneic oxygenation we observed severe desaturation with growing hypotension and hemodynamic destabilization. But with the use of Boussignac CPAP system all necessary tests were successfully completed, confirming the patient’s brain death, which gave us the opportunity to perform procedures for organ donation. The main reason of apneic test difficulties was severe gas exchange disturbances secondary to ARDS. Thus lack of positive end expiratory pressure during classical performance of apneic test leads to quick desaturation and rapid hemodynamic deterioration, limiting the observation period below dedicated at least 10-minute interval. Conclusion The Boussignac CPAP system may be an effective tool for performing transparent apneic test in case of serious respiratory disturbances, especially in the form of acute lung injury or ARDS. PMID:26124664

  3. Sudden Infant Death Syndrome

    MedlinePlus

    ... are awake and someone is watching Having your baby sleep in your room for at least the first ... soft objects and loose bedding away from your baby's sleep area Breastfeeding your baby Making sure that your ...

  4. Elevation of plasma-soluble HLA-G in childhood nephrotic syndrome is associated with IgE.

    PubMed

    Liu, Yanqing; Lai, Meimei; Lou, Yunyan; Han, Qiuyue; Yang, Qing; Chen, Minguang; Li, Jingbo; Wang, Huiyan; Yan, Weihua; Zheng, Xiaoqun

    2017-01-01

    Background Nephrotic syndrome is related to immune system dysfunction. Soluble human leukocyte antigen-G has been suggested to have an immunomodulatory role. Additionally, human leukocyte antigen-G expression may be influenced by the 14-base pair insertion/deletion polymorphism. However, this molecule has not been investigated in nephrotic syndrome. Methods Fifty-five children with nephrotic syndrome were enrolled: 24 primary nephrotic syndrome patients and 31 recurrent nephrotic syndrome patients. A group of 120 healthy subjects were included as reference controls. Additionally, 22 patients in nephrotic syndrome remission after treatments were also included. Both nephrotic syndrome patients and healthy subjects were genotyped for the 14-base pair insertion/deletion polymorphism. Plasma soluble human leukocyte antigen-G concentrations and serum immunoglobulin concentrations were determined. Results Nephrotic syndrome patients showed significantly higher levels of both soluble human leukocyte antigen-G and immunoglobulin E compared to normal controls. Nephrotic syndrome patients presented a higher frequency of the -14-base pair allele than did normal controls. Soluble human leukocyte antigen-G concentrations in remission patients were dramatically lower compared to in nephrotic syndrome patients. Moreover, soluble human leukocyte antigen-G and immunoglobulin E were moderately correlated in nephrotic syndrome patients. Conclusions The present study demonstrated that plasma soluble human leukocyte antigen-G concentrations were significantly elevated and that a relationship between serum total immunoglobulin E in nephrotic syndrome patients and the human leukocyte antigen-G -14-base pair allele may be a risk factor for nephrotic syndrome. These findings suggest that soluble human leukocyte antigen-G may be used as a monitoring marker for nephrotic syndrome patients' condition.

  5. Lenalidomide in Treating Young Patients With Relapsed or Refractory Solid Tumors or Myelodysplastic Syndromes

    ClinicalTrials.gov

    2014-06-10

    Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Ringed Sideroblasts; Refractory Cytopenia With Multilineage Dysplasia; Secondary Myelodysplastic Syndromes; Unspecified Childhood Solid Tumor, Protocol Specific

  6. Reversible Cerebral Vasoconstriction Syndrome Promptly Diagnosed with Magnetic Resonance Imaging Including Magnetic Resonance Angiography During Immunosuppressive Therapy in a 16-Year-Old Girl with Refractory Cytopenia of Childhood

    PubMed Central

    Ueki, Hideaki; Sanayama, Yasushi; Miyajima, Akiyo; Tsuchimochi, Taichiro; Igarashi, Shunji; Sunami, Shosuke

    2016-01-01

    Reversible cerebral vasoconstriction syndrome (RCVS) is a syndrome characterized by severe headache with segmental vasoconstriction of the cerebral arteries that resolves within 12 weeks. A 16-year-old girl with refractory cytopenia of childhood, who was receiving the immunosuppressant cyclosporine, developed severe headache and was diagnosed with RCVS using magnetic resonance imaging, including magnetic resonance angiography (MRA). MRA is a non-invasive and very effective technique for diagnosing RCVS. MRA should be performed at the onset of severe headache during immunosuppressant administration for children with hematological disorders and may prevent sequelae such as posterior reversible encephalopathy syndrome or ischemic attack. PMID:27994838

  7. Childhood Nephrotic Syndrome

    MedlinePlus

    ... on specific areas of the child’s body Urine Tests A health care provider may order the following urine tests to ... and fat levels are higher than normal A health care provider may order urine tests to help determine if a child has kidney ...

  8. Rx for a Balanced Childhood.

    ERIC Educational Resources Information Center

    Ungar, Manya; And Others

    1988-01-01

    Twelve articles present information on childhood health matters, covering such topics as Acquired Immune Deficiency Syndrome, obesity, lead, drug abuse, alcohol use, pesticides in schools, school bullies, and reading resources. (CB)

  9. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

    PubMed

    Gerards, Mike; Kamps, Rick; van Oevelen, Jo; Boesten, Iris; Jongen, Eveline; de Koning, Bart; Scholte, Hans R; de Angst, Isabel; Schoonderwoerd, Kees; Sefiani, Abdelaziz; Ratbi, Ilham; Coppieters, Wouter; Karim, Latifa; de Coo, René; van den Bosch, Bianca; Smeets, Hubert

    2013-03-01

    Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only mutation detection in known candidate genes, but also the identification of new genes associated with Leigh syndrome in small families and isolated cases. Exome sequencing was combined with homozygosity mapping to identify the genetic defect in a Moroccan family with fatal Leigh syndrome in early childhood and specific magnetic resonance imaging abnormalities in the brain. We detected a homozygous nonsense mutation (c.20C>A; p.Ser7Ter) in the thiamine transporter SLC19A3. In vivo overexpression of wild-type SLC19A3 showed an increased thiamine uptake, whereas overexpression of mutant SLC19A3 did not, confirming that the mutation results in an absent or non-functional protein. Seventeen additional patients with Leigh syndrome were screened for mutations in SLC19A3 using conventional Sanger sequencing. Two unrelated patients, both from Moroccan origin and one from consanguineous parents, were homozygous for the same p.Ser7Ter mutation. One of these patients showed the same MRI abnormalities as the patients from the first family. Strikingly, patients receiving thiamine had an improved life-expectancy. One patient in the third family deteriorated upon interruption of the thiamine treatment and recovered after reinitiating. Although unrelated, all patients came from the province Al Hoceima in Northern Morocco. Based on the recombination events the mutation was estimated to have occurred 1250-1750 years ago. Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin. Especially

  10. Use of the Childhood Autism Rating Scale (CARS) for Children with High Functioning Autism or Asperger Syndrome

    ERIC Educational Resources Information Center

    Mayes, Susan Dickerson; Calhoun, Susan L.; Murray, Michael J.; Morrow, Jill D.; Yurich, Kirsten K. L.; Cothren, Shiyoko; Purichia, Heather; Mahr, Fauzia; Bouder, James N.; Petersen, Christopher

    2012-01-01

    The authors of the "Childhood Autism Rating Scale" (CARS) state in the manual that the best cutoff score for distinguishing low functioning autism (LFA) from intellectual disability is 30 for children and 28 for adolescents and adults. This study determined that a cutoff score of 25.5 was most accurate in differentiating between high functioning…

  11. Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation.

    PubMed

    Wang, Yunyun; Chen, Shu; Wang, Rongshuai; Huang, Sizhe; Yang, Mingzhen; Liu, Liang; Liu, Qian

    2016-04-01

    To investigate the sudden death of a 36-year-old Chinese man, a medicolegal autopsy was performed, combining forensic pathological examinations and genetic sequencing analysis to diagnose the cause of death. Genomic DNA samples were extracted from blood and subjected to high-throughput sequencing. Major findings included a dilated aortic root with a ruptured and dissected aorta and consequent tamponade of the pericardial sac. Moreover, arachnodactyly and other skeletal deformities were noted. By sequencing the fibrillin-1 gene (FBN1), five genetic variations were found, including four previously known single nucleotide polymorphisms (SNPs) and a novel frameshift mutation, leading to the diagnosis of Marfan syndrome. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. The four SNPs included a splice site mutation (c.3464-5 G>A, rs11853943), a synonymous mutation (p.Asn625Asn, rs25458), and two missense mutations (p.Pro1148Ala, rs140598; p.Cys472Tyr, rs4775765). Genetic screening was recommended for the relatives as it was reported that the father and brother of the deceased had died at the ages of 40 and 25, respectively, from sudden cardiac failure. The son of the deceased lacked the relevant mutations. This report emphasizes the important contribution of medicolegal postmortem analysis on the molecular pathogenesis study of Marfan syndrome and early diagnosis of at-risk relatives.

  12. Mozart's illnesses and death.

    PubMed Central

    Davies, P J

    1983-01-01

    Throughout his life Mozart suffered frequent attacks of tonsillitis. In 1784 he developed post-streptococcal Schönlein-Henoch syndrome which caused chronic glomerular nephritis and chronic renal failure. His fatal illness was due to Schönlein-Henoch purpura, with death from cerebral haemorrhage and bronchopneumonia. Venesection(s) may have contributed to his death. PMID:6352940

  13. A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome.

    PubMed

    Nabhani, Schafiq; Hönscheid, Andrea; Oommen, Prasad T; Fleckenstein, Bernhard; Schaper, Jörg; Kuhlen, Michaela; Laws, Hans-Jürgen; Borkhardt, Arndt; Fischer, Ute

    2014-12-01

    We report a novel type of mutation in the death ligand FasL that was associated with a severe phenotype of the autoimmune lymphoproliferative syndrome in two patients. A frameshift mutation in the intracellular domain led to complete loss of FasL expression. Cell death signaling via its receptor and reverse signaling via its intracellular domain were completely abrogated. In vitro lymphocyte proliferation induced by weak T cell receptor stimulation could be blocked and cell death was induced by engagement of FasL in T cells derived from healthy individuals and a heterozygous carrier, but not in FasL-deficient patient derived cells. Expression of genes implicated in lymphocyte proliferation and activation (CCND1, NFATc1, NF-κB1) was increased in FasL-deficient T cells and could not be downregulated by FasL engagement as in healthy cells. Our data thus suggest, that deficiency in FasL reverse signaling may contribute to the clinical lymphoproliferative phenotype of ALPS.

  14. Nephrotic Syndrome in Adults

    MedlinePlus

    ... Childhood Nephrotic Syndrome Hemolytic Uremic Syndrome in Children Treatment for Kidney Failure in Children Caring for a ... Sponge Kidney Kidney Dysplasia Kidney Failure Choosing a Treatment for Kidney Failure Hemodialysis Peritoneal Dialysis Kidney Transplant ...

  15. A Rare Association of Childhood Alopecia Areata and Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: Successfully Treated with Diphenylcyclopropenone

    PubMed Central

    Jagadeesan, Soumya; Balasubramanian, Pradeep; Panicker, Vinitha Varghese; Anjaneyan, Gopikrishnan; Thomas, Jacob

    2015-01-01

    The genetic background of alopecia areata has only recently begun to get unraveled. We report the association of a case of pediatric alopecia areata with a rare genetic syndrome-blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), which responded well to topical immunotherapy with diphenylcyclopropenone. In the background of increasing evidence surfacing on the genetic basis of alopecia areata, this association may be of significance. PMID:26180454

  16. [Causes of death among patients with acquired immunodeficiency syndrome autopsied at the Tropical Medicine Foundation of Amazonas].

    PubMed

    Souza, Sílvia Leopoldina Santos de; Feitoza, Pablo Vinícius Silveira; Araújo, José Ribamar de; Andrade, Rosilene Viana de; Ferreira, Luiz Carlos de Lima

    2008-01-01

    The aim of this study was to investigate the causes of death among 129 AIDS patients that were autopsied at the Tropical Medicine Foundation of Amazonas between 1996 and 2003. The degree of concordance between the autopsy diagnoses and the clinical diagnoses was observed. The disease that most frequently caused death was tuberculosis (28%), followed by bacterial pneumonia (17%), histoplasmosis (13%), toxoplasmosis (10%), pneumocystosis (8%), cryptococcosis (5%), bacterial sepsis (4%) and other causes (15%). The concordance between the clinical diagnosis before death and the autopsy was 51.9%. The main organ involved was the lungs (82.2%). The length of survival from the time of the laboratory diagnosis to death ranged from one month to 120 months. The mean length of survival was 15 days and 56% died less than one month after the diagnosis, while 15 patients died on the same day that they were diagnosed. These results show the importance of autopsies in elucidating the causes of death among AIDS patients.

  17. Neonatal Death

    MedlinePlus

    ... Home > Complications & Loss > Loss & grief > Neonatal death Neonatal death E-mail to a friend Please fill in ... cope with your baby’s death. What is neonatal death? Neonatal death is when a baby dies in ...

  18. Childhood very severe pneumonia and meningitis-related hospitalization and death in Yemen, before and after introduction of H. influenzae type b (Hib) vaccine.

    PubMed

    Banajeh, S M; Ashoor, O; Al-Magramy, A S

    2014-07-08

    Haemophilus influenzae type b (Hib) vaccine was included in the Yemen immunization programme in 2005. This study compared the rates of very severe pneumonia and all-cause meningitis hospitalization and death, before and after introduction of conjugate Hib vaccine, and reports the results of the 2010 bacterial meningitis surveillance. A retrospective analysis was made of data collected for 2000-2010 for all children aged 2-60 months in the main children's hospital in Sana'a. Compared with the pre-Hib vaccination period, the post-Hib period showed significant and impressive reductions in the rates of hospitalization and death for all-cause meningitis. However, hospitalization and death for very severe pneumonia improved only modestly, and there was evidence of a decreasing but non-significant trend indicting that very severe pneumonia was a non-specific endpoint with multi-etiologies (both viral and bacterial). Very severe pneumonia remains the leading cause of severe morbidity and death for young children, particularly those aged < 12 months.

  19. FIP1L1-PDGFRα-positive hypereosinophilic syndrome in childhood: a case report and review of literature.

    PubMed

    Farruggia, Piero; Giugliano, Emilia; Russo, Delia; Trizzino, Angela; Lorenzatti, Roberta; Santoro, Alessandra; D'Angelo, Paolo

    2014-01-01

    Hypereosinophilic syndromes in children are rare disorders traditionally characterized by an eosinophil count exceeding 1,500/mm³ on at least 2 occasions or evidence of tissue eosinophilia associated with symptoms and marked blood eosinophilia, lacking any secondary cause (such as infections, allergic disease, chemical-induced eosinophilia, hypoadrenalism, cancer). Until now there have only been 3 reported cases of pediatric FIP1L1-PDGFRα-positive hypereosinophilic syndromes. We describe a fourth patient, a white 14-year-old boy, the third treated with imatinib.

  20. An Extra X or Y Chromosome: Contrasting the Cognitive and Motor Phenotypes in Childhood in Boys with 47,XYY Syndrome or 47,XXY Klinefelter Syndrome

    ERIC Educational Resources Information Center

    Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.

    2009-01-01

    Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…

  1. Genetics Home Reference: Kleefstra syndrome

    MedlinePlus

    ... individuals may have a high birth weight and childhood obesity. People with Kleefstra syndrome may also have structural brain abnormalities, congenital heart defects, genitourinary abnormalities, seizures, ... During childhood they may exhibit features of autism or related ...

  2. Hepatic lipidosis and other test findings in two captive adult porcupines (Erethizon dorsatum) dying from a "sudden death syndrome".

    PubMed

    Barigye, Robert; Schamber, Ev; Newell, Teresa K; Dyer, Neil W

    2007-11-01

    Routine postmortem examination and histologic evaluation of tissue sections demonstrated hepatic lipidosis (HL) in 2 adult captive porcupines with a history of sudden death. The male porcupine had a markedly enlarged pale liver that microscopically showed large unilocular vacuoles within hepatocellular cytoplasm. The periparturient female had similar but less marked hepatic lesions and an incidental pulmonary mycosis. These findings suggest HL as an important differential of spontaneous death in captive porcupines. It is hypothesized that in addition to the widely documented causes, HL in captive porcupines may be specifically associated with nutritional imbalances caused by the feeding of unsuitable commercial diets. The possible association of the condition with dietary and other factors in captive porcupines needs to be thoroughly investigated.

  3. Fine-Motor Skill Deficits in Childhood Predict Adulthood Tic Severity and Global Psychosocial Functioning in Tourette's Syndrome

    ERIC Educational Resources Information Center

    Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.

    2006-01-01

    Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…

  4. Sudden Infant Death Syndrome Act Extension, 1978. Hearing Before the Subcommittee on Child and Human Development of the Committee on Human Resources, United States Senate, Ninety-Fifth Congress, Second Session, on S. 2523, March 1, 1978.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. Senate Committee on Human Resources.

    This document presents the hearings before the Subcommittee on Child and Human Development on the enactment of the Sudden Infant Death Syndrome (SIDS) Act Extension of 1978. The purpose of the hearing was to determine the effectiveness of the SIDS program which was established by Public Law 93-270, to determine how it can be improved or expanded,…

  5. Endogenous programmed death ligand-1 restrains the development and onset of Sjӧgren’s syndrome in non-obese diabetic mice

    PubMed Central

    Zhou, Jing; Jin, Jun-O.; Kawai, Toshihisa; Yu, Qing

    2016-01-01

    Programmed death-ligand 1 (PD-L1) down-modulates various immune responses by engaging the co-inhibitory receptor programmed death-1. Expression of PD-L1 and programmed death-1 is elevated in the salivary glands of patients with Sjögren’s syndrome (SS). The objective of this study is to define the role of endogenous PD-L1 in SS pathogenesis in non-obese diabetic (NOD) mouse model of this disease. We inhibited endogenous PD-L1 function by intraperitoneal administration of a blocking antibody to 6 week-old female NOD/ShiLtJ mice repeatedly during a 9-day period. PD-L1 blockade accelerated leukocyte infiltration and caspase-3 activation in the submandibular gland (SMG), production of antinuclear and anti-M3 muscarinic acetylcholine receptor (M3R) autoantibodies and impairment of saliva secretion, indicative of accelerated development and onset of SS. The effect of PD-L1 blockade was associated with increased T- and B cells and T helper 1 cytokine IFN-γ in the SMG. Local administration of exogenous IFN-γ to the SMG led to impaired salivary secretion accompanied by down-regulation of aquaporin 5 and an increase in anti-M3R autoantibodies. Conversely, neutralization of IFN-γ markedly improved salivary secretion and aquaporin 5 expression in anti-PD-L1-treated NOD/ShiLtJ mice. Hence, endogenous PD-L1 hinders the development and onset of SS in NOD mice, in part by suppressing IFN-γ production. PMID:27966604

  6. The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome.

    PubMed

    Muldoon, Meghan; Ousley, Opal Y; Kobrynski, Lisa J; Patel, Sheena; Oster, Matthew E; Fernandez-Carriba, Samuel; Cubells, Joseph F; Coleman, Karlene; Pearce, Bradley D

    2015-09-01

    22q11 deletion syndrome (22qDS), also known as DiGeorge syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months, whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p < 0.05), Speech (p < 0.01), and Symbolic domains (p < 0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes.

  7. Childhood Anxiety Associated with Low BMI in Women with Anorexia Nervosa

    PubMed Central

    Dellava, Jocilyn E.; Thornton, Laura M.; Hamer, Robert M.; Strober, Michael; Plotnicov, Katherine; Klump, Kelly L.; Brandt, Harry; Crawford, Steve; Fichter, Manfred M.; Halmi, Katherine A.; Jones, Ian; Johnson, Craig; Kaplan, Allan S.; LaVia, Maria; Mitchell, James; Rotondo, Alessandro; Treasure, Janet; Woodside, D. Blake; Berrettini, Wade H.; Kaye, Walter H.; Bulik, Cynthia M.

    2009-01-01

    Objective Extremely low body mass index (BMI) values are associated with increased risk for death and poor long-term prognosis in individuals with AN. The present study explores childhood personality characteristics that could be associated with the ability to attain an extremely low BMI. Methods Participants were 326 women from the Genetics of Anorexia Nervosa (GAN) Study who completed the Structured Interview for Anorexia Nervosa and Bulimic Syndromes and whose mother completed the Child Behavioral Check List and/or Revised Dimensions of Temperament Survey. Results Children who were described as having greater fear or anxiety by their mothers attained lower BMIs during AN (p <0.02). Path analysis in the GAN and a validation sample, Price Foundation Anorexia Nervosa Trios Study, confirmed the relation between early childhood anxiety, caloric restriction, qualitative food item restriction, excessive exercise, and low BMI. Path analysis also confirmed a relation between childhood anxiety and caloric restriction, which mediated the relation between childhood anxiety and low BMI in the GAN sample only. Conclusion Fearful or anxious behavior as a child was associated with the attainment of low BMI in AN and childhood anxiety was associated with caloric restriction. Measures of anxiety and factors associated with anxiety-proneness in childhood may index children at risk for restrictive behaviors and extremely low BMIs in AN. PMID:19822312

  8. Cyclosporine in the treatment of childhood idiopathic steroid resistant nephrotic syndrome: a single centre experience in Nigeria

    PubMed Central

    Ladapo, Taiwo Augustina; Esezobor, Christopher Imokhuede; Lesi, Foluso Ebunoluwa

    2016-01-01

    Introduction Children with steroid resistant nephrotic syndrome usually require treatment with second-line agents and calcineurin inhibitors such as cyclosporine are now recommended as initial therapy. These agents only recently become available in our environment and their impact on care is unknown. We reviewed the short-term treatment outcomes of their use in comparison with previous outcomes. Methods Medical records of children managed for idiopathic steroid resistant nephrotic syndrome over a 5 year period were reviewed. Remission rates and improvement in renal function following use of various agents were compared. Results Of 103 children with idiopathic nephrotic syndrome, 25(24.3%) were steroid resistant, of whom 17 received additional medications. Full remission rate for cyclosporine was 70% (7/10). Remission rates prior to the availability of cyclosporine were 40% (2/5) for cyclophosphamide and 66% (2/3), (partial remission only) with enalapril, an angiotensin converting enzyme inhibitor used in combination with alternate day prednisolone. One child with cyclophosphamide resistance subsequently achieved remission with cyclosporine. Remission was not related to sex (p=0.96), age (p=0.54), serum albumin (p=0.37) or hypertension (p=0.43) but to serum cholesterol (p= 0.02). The estimated glomerular filteration rate (eGFR) among children treated with cyclosporine ranged from 30-167 ml/min/1.73m2 as follows: >90 (5); 60-89 (3); 30-59 (2) while the mean pre and post treatment eGFR in those with eGFR <90 were 60 and 104ml/min/1.73m2 respectively (p=0.03). Mortality rate was 10% (1/10) in children treated with cyclosporine compared with 28.6% (2/7) in those treated with other medications (p=0.54). Conclusion Cyclosporine resulted in improved treatment outcomes in children with idiopathic steroid resistant nephrotic syndrome. PMID:28293374

  9. Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum.

    PubMed

    Kinney, Hannah C; Poduri, Annapurna H; Cryan, Jane B; Haynes, Robin L; Teot, Lisa; Sleeper, Lynn A; Holm, Ingrid A; Berry, Gerald T; Prabhu, Sanjay P; Warfield, Simon K; Brownstein, Catherine; Abram, Harry S; Kruer, Michael; Kemp, Walter L; Hargitai, Beata; Gastrang, Joanne; Mena, Othon J; Haas, Elisabeth A; Dastjerdi, Roya; Armstrong, Dawna D; Goldstein, Richard D

    2016-10-01

    Sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC) are defined as sudden death in a child remaining unexplained despite autopsy and death scene investigation. They are distinguished from each other by age criteria, i.e. with SIDS under 1 year and SUDC over 1 year. Our separate studies of SIDS and SUDC provide evidence of shared hippocampal abnormalities, specifically focal dentate bilamination, a lesion classically associated with temporal lobe epilepsy, across the 2 groups. In this study, we characterized the clinicopathologic features in a retrospective case series of 32 children with sudden death and hippocampal formation (HF) maldevelopment. The greatest frequency of deaths was between 3 weeks and 3 years (81%, 26/32). Dentate anomalies were found across the pediatric age spectrum, supporting a common vulnerability that defies the 1-year age cutoff between SIDS and SUDC. Twelve cases (38%) had seizures, including 7 only with febrile seizures. Subicular anomalies were found in cases over 1 year of age and were associated with increased risk of febrile seizures. Sudden death associated with HF maldevelopment reflects a complex interaction of intrinsic and extrinsic factors that lead to death at different pediatric ages, and may be analogous to sudden unexplained death in epilepsy.

  10. Children's Deaths in Maine, 1976-1980 Final Report.

    ERIC Educational Resources Information Center

    Shaper, Ruth; And Others

    The final report of a statistical study of 1,737 childhood deaths in Maine from 1976-80 by cause and age also looks at distribution of deaths by cause and age in Maine's low-income population. The findings showed disease was the major cause of death (1,068 deaths) followed by accidents (578 deaths), suicide (50 deaths), and homicide (29 deaths).…

  11. Sudden death of feedlot cattle.

    PubMed

    Glock, R D; DeGroot, B D

    1998-01-01

    Sudden deaths or the sudden death syndrome are perceived as major concerns in cattle feedlots because most of these deaths occur in cattle near market weight. Etiology and preventive measures are poorly defined. The current literature indicates that sudden deaths are associated most commonly with digestive upsets. Death is thought to be the result of interactions between factors including acidosis, bloat, and endotoxemia. Trauma, peracute interstitial pneumonia, and other identifiable events are specifically defined but relatively uncommon. Enterotoxemia is of questionable significance as a cause of sudden deaths.

  12. Childhood Emergencies

    MedlinePlus

    ... SUBSCRIBE Emergency 101 Share this! Home » Emergency 101 Childhood Emergencies Keeping children healthy and safe is every ... and tools to prevent, recognize and address a childhood emergency is the first step in keeping your ...

  13. Childhood Schizophrenia

    MedlinePlus

    Childhood schizophrenia Overview By Mayo Clinic Staff Childhood schizophrenia is an uncommon but severe mental disorder in which children interpret reality abnormally. Schizophrenia involves a range of problems with thinking (cognitive), ...

  14. Childhood Asthma

    MedlinePlus

    ... Library ▸ Asthma Library ▸ Childhood asthma TTR Share | Childhood Asthma Children with recurrent cough, wheezing, chest tightness or ... breath may have one or more forms of asthma. Left untreated, asthmatic children often have less stamina ...

  15. [Age-dependent visceral medicine: paediatric visceral medicine - visceral medical paediatrics - considerations on the short bowel syndrome in childhood].

    PubMed

    Krause, H; Heiduk, M; Wachowiak, R; Till, H

    2013-08-01

    There are several reasons for the possible development of a short bowel syndrome, which, however, occurs only rarely. The main causes consist of extended intestinal resections in cases of congenital anomalies (e.g., gastroschisis, intestinal atresia or dysplasia) or ischaemic lesions due to a volvulus. In addition, an intestinal stoma at a more upper segment of the GI tract can result in the functional manifestation of a short bowel syndrome. The differentiation between temporary and persisting types is essential for initiation of an adequate treatment. Loss or exclusion of organic resorption area at the inner surface of the (small) intestine can be associated with numerous pathological consequences requiring treatment. As a principle consideration from the paediatric point of view, the potential of intestinal adaptation needs to be assessed. Basic conservative treatment options are parenteral and enteral nutrition regimens, in particular, to prevent complications (such as D-lactate acidosis). The main surgical approaches are the procedures called LILT (longitudinal intestinal lengthening and tailoring) according to Bianchi and STEP (serial transverse enteroplasty). The technique to create intestinal segments of antiperistalsis has been abandoned. Because of the encouraging results of intestinal transplantation, this novel treatment option has gained greater attention over the past few years and is now also an option for paediatric patients. The limiting factor and thus major complication is the central venous catheter for long-term treatment. Catheter-related complications are still the main reason for a considerable mortality in these children.

  16. Calcium-mediated repression of β-catenin and its transcriptional signaling mediates neural crest cell death in an avian model of fetal alcohol syndrome.

    PubMed

    Flentke, George R; Garic, Ana; Amberger, Ed; Hernandez, Marcos; Smith, Susan M

    2011-07-01

    Fetal alcohol syndrome (FAS) is a common birth defect in many societies. Affected individuals have neurodevelopmental disabilities and a distinctive craniofacial dysmorphology. These latter deficits originate during early development from the ethanol-mediated apoptotic depletion of cranial facial progenitors, a population known as the neural crest. We showed previously that this apoptosis is caused because acute ethanol exposure activates G-protein-dependent intracellular calcium within cranial neural crest progenitors, and this calcium transient initiates the cell death. The dysregulated signals that reside downstream of ethanol's calcium transient and effect neural crest death are unknown. Here we show that ethanol's repression of the transcriptional effector β-catenin causes the neural crest losses. Clinically relevant ethanol concentrations (22-78 mM) rapidly deplete nuclear β-catenin from neural crest progenitors, with accompanying losses of β-catenin transcriptional activity and downstream genes that govern neural crest induction, expansion, and survival. Using forced expression studies, we show that β-catenin loss of function (via dominant-negative T cell transcription factor [TCF]) recapitulates ethanol's effects on neural crest apoptosis, whereas β-catenin gain-of-function in ethanol's presence preserves neural crest survival. Blockade of ethanol's calcium transient using Bapta-AM normalizes β-catenin activity and prevents the neural crest losses, whereas ionomycin treatment is sufficient to destabilize β-catenin. We propose that ethanol's repression of β-catenin causes the neural crest losses in this model of FAS. β-Catenin is a novel target for ethanol's teratogenicity. β-Catenin/Wnt signals participate in many developmental events and its rapid and persistent dysregulation by ethanol may explain why the latter is such a potent teratogen.

  17. [Obesity in childhood].

    PubMed

    Shcherbakova, M Iu; Poriagina, G I; Kovaleva, E A

    2010-01-01

    In this article presented modern data on the definition of obesity in childhood and its prevalence. Were reflected the basic diagnostic criteria for obesity and metabolic syndrome. Were analyzed genetic changes, hormonal factors, influence lifestyle of modern man as the reasons of the obesity. Are also was considered data on the relation of obesity and its complications such as cardiovascular, metabolic syndromes, nonalcoholic fatty liver disease. Was reflected the views of various specialists (cardiologists, endocrinologists, gastroenterologists, pediatricians) to the problem of overweight and obesity in children and adolescents. Were presented modern data on the approaches to the treatment of obesity in children.

  18. Integrated management of childhood illness: an emphasis on the management of infectious diseases.

    PubMed

    Benguigui, Yehuda; Stein, Fernando

    2006-04-01

    The Integrated Management of Childhood Illness (IMCI) strategy has helped strengthen the application and expand coverage of key child survival interventions aimed at preventing deaths from infectious disease, respiratory illness, and malnutrition, whether at the health services, in the community, or at home. IMCI covers the prevention, treatment, and follow-up of the leading causes of mortality, which are responsible for at least two-thirds of deaths of children younger than 5 years in the countries of the Americas. The IMCI clinical guidelines take an evidence-based, syndrome approach to case managment that supports the rational, effective, and affordable use of drugs and diagnostic tools. When clinical resources are limited, the syndrome approach is a more realistic and cost-effective way to manage patients. Careful and systematic assessment of common symptoms and well-selected clinical signs provide sufficient information to guide effective actions.

  19. Effect of metabolic syndrome risk factors and MMP-2 genetic variations on circulating MMP-2 levels in childhood obesity.

    PubMed

    Belo, Vanessa A; Luizon, Marcelo R; Carneiro, Patrícia C; Gomes, Valéria A; Lacchini, Riccardo; Lanna, Carla M M; Souza-Costa, Debora C; Tanus-Santos, Jose E

    2013-03-01

    Matrix metalloproteinase-2 is involved in the development of the adipose tissue, and associated with cardiovascular diseases. Metabolic risk factors (MRFs) and functional polymorphisms in the MMP-2 gene may affect its expression and activity. We investigated whether traditional MRFs and two MMP-2 gene polymorphisms (C(-1306)T; rs243865, and C(-735)T; rs2285053) affect circulating MMP-2 levels in children and adolescents, and whether MMP-2 polymorphisms and/or haplotype are associated with susceptibility to childhood obesity. We studied 114 healthy controls, 43 obese, and 83 obese with ≥ 3 MRFs children and adolescents. Genotypes were determined by Taqman allele discrimination assay and real-time PCR. Plasma MMP-2 was measured using zymography. We found positive correlations between MMP-2 concentrations and mean blood pressure in all children and adolescents group (r = 0.132; P < 0.05) and in obese children and adolescents (r = 0.247; P < 0.01). We found that the CC genotype for the C(-1306)T polymorphism was more common in subjects with higher MMP-2 concentrations in controls (P = 0.003) and in the obese group (P = 0.013). The CT genotype (OR = 0.40; P < 0.01) and the T allele (OR = 0.48; P < 0.01) for the C(-735)T polymorphism were less common in obese children and adolescents than in controls. The haplotypes distribution did not show significant differences between control and obese (P > 0.05). Ours findings show that blood pressure is associated with circulating MMP-2 concentrations, and that the CC genotype for the C(-1306)T polymorphism was more common subjects (controls and obese) with higher MMP-2 concentrations, whereas the CT genotype and the T allele for the C(-735)T polymorphism are less common in obesity.

  20. Exploring the Discussion of Risk of Sudden Cardiac Death.

    PubMed

    Wiley, Kristin Anne; Demo, Erin M; Walker, Peggy; Shuler, C Osborne

    2016-02-01

    Sudden arrhythmic death syndrome (SADS), where death is secondary to cardiac arrhythmia, is associated with several cardiac ion channelopathies, including long QT syndrome and Brugada syndrome, as well as cardiomyopathies such as hypertrophic cardiomyopathy and dilated cardiomyopathy. Many of these conditions often present in childhood or adolescence. This study investigates how diagnoses of cardiac diseases associated with SADS are communicated within families. A questionnaire was distributed through cardiac disease-focused support groups and organizations. Data from 114 parents who have a child with a SADS condition were used for analysis. Based on the responses, parents explained the risk of SADS in a straightforward manner and related the risk to the importance of compliance with the prescribed treatment. Participants also found it difficult to determine and enforce lifestyle modifications, manage individuals' emotional reactions, convey the seriousness of the information without scaring their children, and discuss the risk of SADS during these conversations. Concerns regarding disease progression, length and quality of life, and treatment failures were also expressed. Healthcare providers, the Internet, other affected people, visual aids, and personal experience were all reported to be helpful for facilitating these discussions. Services and resources requested by participants included children's support groups, a counselor or psychologist, and child-oriented materials. Increased understanding of how families discuss children's diagnosis of SADS conditions will equip healthcare providers with the information to address parental concerns and help facilitate meaningful and informative discussions within families.

  1. Rapid Birth-and-Death Evolution of Imprinted snoRNAs in the Prader-Willi Syndrome Locus: Implications for Neural Development in Euarchontoglires

    PubMed Central

    Zhang, Yi-Jun; Yang, Jian-Hua; Shi, Qiao-Su; Zheng, Ling-Ling; Liu, Jun; Zhou, Hui; Zhang, Hui; Qu, Liang-Hu

    2014-01-01

    Imprinted small nucleolar RNAs (snoRNAs) are only found in eutherian genomes and closely related to brain functions. A complex human neurological disease, Prader-Willi syndrome (PWS), is primarily attributed to the deletion of imprinted snoRNAs in chromosome 15q11-q13. Here we investigated the snoRNA repertoires in the PWS locus of 12 mammalian genomes and their evolution processes. A total of 613 imprinted snoRNAs were identified in the PWS homologous loci and the gene number was highly variable across lineages, with a peak in Euarchontoglires. Lineage-specific gene gain and loss events account for most extant genes of the HBII-52 (SNORD115) and the HBII-85 (SNORD116) gene family, and remarkable high gene-birth rates were observed in the primates and the rodents. Meanwhile, rapid sequence substitution occurred only in imprinted snoRNA genes, rather than their flanking sequences or the protein-coding genes located in the same imprinted locus. Strong selective constraints on the functional elements of these imprinted snoRNAs further suggest that they are subjected to birth-and-death evolution. Our data suggest that the regulatory role of HBII-52 on 5-HT2CR pre-mRNA might originate in the Euarchontoglires through adaptive process. We propose that the rapid evolution of PWS-related imprinted snoRNAs has contributed to the neural development of Euarchontoglires. PMID:24945811

  2. Rates of 47, + 13 amd 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis.

    PubMed

    Hook, E B

    1980-11-01

    Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.

  3. Prenatal nicotine exposure in rhesus monkeys compromises development of brainstem and cardiac monoamine pathways involved in perinatal adaptation and sudden infant death syndrome: amelioration by vitamin C.

    PubMed

    Slotkin, Theodore A; Seidler, Frederic J; Spindel, Eliot R

    2011-01-01

    Maternal smoking during pregnancy greatly enhances perinatal morbidity/mortality and is the major risk factor for Sudden Infant Death Syndrome (SIDS). Studies in developing rodents indicate that nicotine is a neuroteratogen that targets monoamine pathways involved in the responses to hypoxia that are in turn, hypothesized to contribute to these adverse events. We administered nicotine to pregnant Rhesus monkeys from gestational day 30 through 160 by continuous infusion, achieving maternal plasma levels comparable to those in smokers; we examined neurochemical parameters immediately after Cesarean delivery at the end of the exposure period. Nicotine evoked elevations in brainstem serotonin levels and serotonin turnover, indicating hyperactivity of these pathways. The same treatment evoked a deficit in cardiac norepinephrine levels. Both effects were offset by coadministration of the antioxidant, Vitamin C. Brainstem serotonin hyperinnervation is a hallmark of SIDS, and the hyperactivity seen here can also account for the downregulation of serotonin receptors noted in this disorder. Deficient cardiac sympathetic innervation is also consistent with increased vulnerability to hypoxia during delivery or in the agonal event in SIDS. Our results thus indicate that nicotine exposure in a primate model produces brainstem and autonomic abnormalities of the key monoamine systems that govern the response to hypoxia, indicate an important role of oxidative stress in the adverse effects, and point to potential amelioration strategies that could offset these particular effects of nicotine.

  4. Mutual information analysis reveals bigeminy patterns in Andersen-Tawil syndrome and in subjects with a history of sudden cardiac death

    NASA Astrophysics Data System (ADS)

    Núñez-Acosta, Elisa; Lerma, Claudia; Márquez, Manlio F.; José, Marco V.

    2012-02-01

    Herein we introduce the Mutual Information Function (MIF) as a mathematical method to analyze ventricular bigeminy in certain pathological conditions of the heart known to be associated with frequent ventricular arrhythmias. In particular, we show that the MIF is sensitive enough to detect the bigeminy pattern in symbolic series from patients with Andersen-Tawil syndrome as well as in a group of patients from the Sudden Cardiac Death Holter Databases. The results confirm that MIF is an adequate method to detect the autocorrelation between the appearance of sinus and ventricular premature beats resulting in a bigeminy pattern. It is also shown that MIF reflects the bigeminy patterns as a function of the percentage of ventricular premature beats present in the symbolic series and also as a function of the percentage of bigeminy. The MIF was also useful to establish a consistent difference in the bigeminy pattern related to the diurnal and nocturnal periods presumably associated to the circadian rhythm of the heart. Understanding of the ventricular bigeminy patterns throughout 24-hours could provide some insights into the pathogenesis of ventricular tachyarrhythmias in these pathological conditions.

  5. [Fever and sudden death, a reality: illustrative case report].

    PubMed

    Rodríguez-Artuza, Carlos; Osorio, Juan; Madueño, Freddy; Payares, Agustín

    2016-11-21

    The connection between fever and sudden death due to ventricular tachycardia has been usually reported in Brugada Syndrome. However the thermosensitive effects caused by fever have been recently described as a possible cause of sudden death in congenital long QT type II syndrome and in idiopathic ventricular fibrillation syndrome. We present a case where fever unmasked a congenital long QT type II syndrome.

  6. Annotation: Childhood-Onset Schizophrenia--Clinical and Treatment Issues

    ERIC Educational Resources Information Center

    Asarnow, Joan Rosenbaum; Tompson, Martha C.; McGrath, Emily P.

    2004-01-01

    Background: In the past 10 years, there has been increased research on childhood-onset schizophrenia and clear advances have been achieved. Method: This annotation reviews the recent clinical and treatment literature on childhood-onset schizophrenia. Results: There is now strong evidence that the syndrome of childhood-onset schizophrenia exists…

  7. Death, Don't Want to Talk about It!

    ERIC Educational Resources Information Center

    Lee, Joo Ok

    2006-01-01

    The appropriate approaches about "death education in early childhood" are addressed in this paper. It is recommended for early childhood teachers to take an advantage of children's daily lives to talk about death and dying of living things such as finding dead insects, corpses of small animals found outside, or plants that turn brown. By seizing…

  8. Speculating on Childhood and Time, with Michael Ende's "Momo" (1973)

    ERIC Educational Resources Information Center

    Duhn, Iris

    2016-01-01

    Childhood and time are closely linked concepts in education. Childhood as a modern domain is a cornerstone of the human narrative of being in time, with birth as the beginning and death as the end. A newborn child marks new beginnings and hope for the future, and geopolitically early childhood education is now seen as a cornerstone for building…

  9. Brief Information on Childhood Traumatic Grief for School Personnel

    ERIC Educational Resources Information Center

    National Child Traumatic Stress Network, 2008

    2008-01-01

    This information sheet summarizes material found in the "In-Depth General Information Guide to Childhood Traumatic Grief" and "In-Depth Information on Childhood Traumatic Grief for School Personnel." Childhood traumatic grief is a condition that some children develop after the death of a close friend or family member. Children who develop…

  10. Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

    PubMed Central

    Miyake, Noriko; Tsukaguchi, Hiroyasu; Koshimizu, Eriko; Shono, Akemi; Matsunaga, Satoko; Shiina, Masaaki; Mimura, Yasuhiro; Imamura, Shintaro; Hirose, Tomonori; Okudela, Koji; Nozu, Kandai; Akioka, Yuko; Hattori, Motoshi; Yoshikawa, Norishige; Kitamura, Akiko; Cheong, Hae Il; Kagami, Shoji; Yamashita, Michiaki; Fujita, Atsushi; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Saitsu, Hirotomo; Ohashi, Kenichi; Imamoto, Naoko; Ryo, Akihide; Ogata, Kazuhiro; Iijima, Kazumoto; Matsumoto, Naomichi

    2015-01-01

    The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has central functions in nucleocytoplasmic transport, nuclear framework, and gene regulation. Nucleoporin 107 kDa (NUP107) is a component of the NPC central scaffold and is an essential protein in all eukaryotic cells. Here, we report on biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). These individuals have pathologically focal segmental glomerulosclerosis, a condition that leads to end-stage renal disease with high frequency. NUP107 is ubiquitously expressed, including in glomerular podocytes. Three of four NUP107 mutations detected in the affected individuals hamper NUP107 binding to NUP133 (nucleoporin 133 kDa) and NUP107 incorporation into NPCs in vitro. Zebrafish with nup107 knockdown generated by morpholino oligonucleotides displayed hypoplastic glomerulus structures and abnormal podocyte foot processes, thereby mimicking the pathological changes seen in the kidneys of the SRNS individuals with NUP107 mutations. Considering the unique properties of the podocyte (highly differentiated foot-process architecture and slit membrane and the inability to regenerate), we propose a “podocyte-injury model” as the pathomechanism for SRNS due to biallelic NUP107 mutations. PMID:26411495

  11. Genetics Home Reference: Lennox-Gastaut syndrome

    MedlinePlus

    ... Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by ... about 4 percent of all cases of childhood epilepsy. For unknown reasons, it appears to be more ...

  12. Vitamin D receptor gene TaqI and Apal polymorphisms and steroid responsiveness in childhood idiopathic nephrotic syndrome

    PubMed Central

    Al-Eisa, Amal A; Haider, Mohammad Z

    2016-01-01

    Background Vitamin D activity is controlled by vitamin D receptors (VDRs), which are affected by different genetic polymorphisms, including TaqI and Apal restriction fragment length polymorphisms (RFLPs), which have been reported to be associated with several diseases. The aim of this study was to determine the frequency and the association of VDR gene polymorphisms with idiopathic nephrotic syndrome (INS) and steroid responsiveness in Kuwaiti children. Subjects and methods Genotypes of the VDR TaqI gene polymorphism and the Apal gene polymorphism were analyzed using polymerase chain reaction-RFLP in 78 INS patients and 56 matched controls. Results A total of 78 INS (62 steroid sensitive [SS] and 16 steroid resistant [SR]) patients with a mean age of 6.5±3.1 years were studied. Male:female ratio was 2:1. The TT genotype of VDR–TaqI polymorphism was detected in 41% of the INS patients compared to 42% of the controls (P=0.816). The heterozygous TC genotype was detected in 33% of INS patients compared to 46% of the controls (P=0.462). The CC genotype was detected in 25.6% of INS patients and 21% of the controls (P=0.719). The C-allele frequency, in its homozygous and heterozygous forms, was 71% in INS patients compared to 63% in the controls (P=0.342). Similarly, no significant difference was detected in terms of VDR–Apal polymorphism in INS patients compared to the controls for all the three genotypes (P=0.76, P=0.207, and P=0.364, respectively, for GG, GT, and TT genotypes). The T-allele frequency, in its homozygous and heterozygous forms, was 89% in INS patients compared to 93% in the controls (P=0.076). No significant difference was found in any of the allele frequencies between SS and SR subgroups when compared with each other or when compared to the controls. Conclusion Our data do not support the use of VDR–TaqI or –Apal gene polymorphisms as genetic markers of INS nor do they predict steroid responsiveness in children with the disease. PMID:27540309

  13. Voodoo death.

    PubMed

    Lester, David

    2009-01-01

    Scholarly writing on voodoo death is reviewed. Criticisms that voodoo deaths in indigenous societies have never been well documented are refuted with cases medically documented in developed nations. The work of Cannon and Richter on sudden death in animals is reviewed and dismissed as irrelevant for understanding voodoo death. The role of starvation and dehydration is discussed, and it is suggested that the given-up/giving-up hypothesis best fits the phenomenon of voodoo death. Hypotheses for future research are suggested.

  14. Global Burden of Childhood Tuberculosis

    PubMed Central

    Jenkins, Helen E.

    2016-01-01

    In 2015, the World Health Organization (WHO) declared tuberculosis (TB) to be responsible for more deaths than any other single infectious disease. The burden of TB among children has frequently been dismissed as relatively low with resulting deaths contributing very little to global under-five all-cause mortality, although without rigorous estimates of these statistics, the burden of childhood TB was, in reality, unknown. Recent work in the area has resulted in a WHO estimate of 1 million new cases of childhood TB in 2014 resulting in 136,000 deaths. Around 3% of these cases likely have multidrug-resistant TB and at least 40,000 are in HIV-infected children. TB is now thought to be a major or contributory cause of many deaths in children under five years old, despite not being recorded as such, and is likely in the top ten causes of global mortality in this age group. In particular, recent work has shown that TB is an under-lying cause of a substantial proportion of pneumonia deaths in TB-endemic countries. Childhood TB should be given higher priority: we need to identify children at greatest risk of TB disease and death and make more use of tools such as active case-finding and preventive therapy. TB is a preventable and treatable disease from which no child should die. PMID:28003956

  15. Relationship of recollections of first death experience to current death attitudes.

    PubMed

    Knight, K H; Elfenbein, M H; Capozzi, L

    2000-01-01

    Previous research (Dickinson, 1992) has investigated adults' memories of their first childhood experience with death. The present study extended this work to examine the relationship of various qualitative aspects of the first experience with death to current death attitudes. College students (196 females, 101 males) described their first childhood death experience and provided memories of: (a) who died; (b) whether parental discussion of death had occurred; (c) whether they had unanswered questions at the time; and (d) whether they had cried at the time. They then completed the Death Attitude Profile-Revised (DAP-R; Wong, Reker, & Gesser, 1994). Results indicated that although boys and girls did not respond differently to the first death experience, gender did appear to moderate the relationship between the qualities of this experience and current death attitudes.

  16. Gut microbiome in sudden infant death syndrome (SIDS) differs from that in healthy comparison babies and offers an explanation for the risk factor of prone position.

    PubMed

    Highet, Amanda R; Berry, Anne M; Bettelheim, Karl A; Goldwater, Paul N

    2014-07-01

    The role of bacteria in the causation of sudden infant death syndrome (SIDS) is gaining acceptance. Mainstream research favouring respiratory compromise has failed to provide a plausible pathogenetic mechanism despite many years of investigation and thousands of research papers. Bacterial colonisation of the colon of the human infant is influenced by many factors including age, mode of delivery, diet, environment, and antibiotic exposure. The gut microbiome influences development of the immune system. The gut microflora could be important in protection against the bacteria and/or their toxins purportedly involved in SIDS pathogenesis. The aim was to perform a preliminary investigation of the gut microflora in sudden infant death syndrome (SIDS) compared with live comparison babies. The intestinal contents from 52 SIDS, and 102 faecal samples from age-matched live comparison infants were screened by PCR to target 16s RNA genes of Clostridium innocuum, Cl. Perfringens, Cl. difficile, Bacteroides thetaiotaomicron and Staphylococcus aureus. Gut colonisation of the babies with these bacteria was analysed in relation to age, gender and type of feeding; and for SIDS babies sleeping position. Cl. difficile, Cl. innocuum and B. thetaiotaomicron were significantly associated with SIDS with 25%, 46% and 30% of cases PCR positive for these respective bacteria compared with only 6%, 23% and 8.8% respectively in the comparison group. SIDS babies had dual colonisation by both Cl. perfringens and Cl. difficile significantly more often than comparison babies and also with triple colonisation by Cl. perfringens, Cl. difficile and Cl. innocuum. SIDS babies were more often colonised by S. aureus than comparison babies. In addition, SIDS babies found prone were significantly more likely to be colonised by S. aureus than for other positions recorded (OR = ∞; CI = 2·04 - ∞). No significant differences between breast and bottle-fed SIDS babies was observed in regard to each

  17. Dying and Death: Helping Children Cope.

    ERIC Educational Resources Information Center

    Ledezma, Melissa L.

    This paper suggests strategies for helping children understand death. The early experiences of childhood build the foundation on which the child establishes a healthy orientation towards life and living. Grieving parents are often so upset by their own loss that they do not carefully explain death to their children. Parents may feel that the child…

  18. Expression of a single-chain variable-fragment antibody against a Fusarium virguliforme toxin peptide enhances tolerance to sudden death syndrome in transgenic soybean plants.

    PubMed

    Brar, Hargeet K; Bhattacharyya, Madan K

    2012-06-01

    Plants do not produce antibodies. However, plants can correctly assemble functional antibody molecules encoded by mammalian antibody genes. Many plant diseases are caused by pathogen toxins. One such disease is the soybean sudden death syndrome (SDS). SDS is a serious disease caused by the fungal pathogen Fusarium virguliforme. The pathogen, however, has never been isolated from diseased foliar tissues. Thus, one or more toxins produced by the pathogen have been considered to cause foliar SDS. One of these possible toxins, FvTox1, was recently identified. We investigated whether expression of anti-FvTox1 single-chain variable-fragment (scFv) antibody in transgenic soybean can confer resistance to foliar SDS. We have created two scFv antibody genes, Anti-FvTox1-1 and Anti-FvTox1-2, encoding anti-FvTox1 scFv antibodies from RNAs of a hybridoma cell line that expresses mouse monoclonal anti-FvTox1 7E8 antibody. Both anti-FvTox1 scFv antibodies interacted with an antigenic site of FvTox1 that binds to mouse monoclonal anti-FvTox1 7E8 antibody. Binding of FvTox1 by the anti-FvTox1 scFv antibodies, expressed in either Escherichia coli or transgenic soybean roots, was initially verified on nitrocellulose membranes. Expression of anti-FvTox1-1 in stable transgenic soybean plants resulted in enhanced foliar SDS resistance compared with that in nontransgenic control plants. Our results suggest that i) FvTox1 is an important pathogenicity factor for foliar SDS development and ii) expression of scFv antibodies against pathogen toxins could be a suitable biotechnology approach for protecting crop plants from toxin-induced diseases.

  19. The Serotonin-Related FEV Gene Variant in the Sudden Infant Death Syndrome is a Common Polymorphism in the African–American Population

    PubMed Central

    Broadbelt, Kevin G.; Barger, Melissa A.; Paterson, David S.; Holm, Ingrid A.; Haas, Elisabeth A.; Krous, Henry F.; Kinney, Hannah C.; Markianos, Kyriacos; Beggs, Alan H.

    2009-01-01

    An important subset of the sudden infant death syndrome (SIDS) is associated with multiple serotonergic (5-HT) abnormalities in regions of the medulla oblongata. The mouse ortholog of the fifth Ewing variant gene (FEV) is critical for 5-HT neuronal development. A putatively rare intronic variant [IVS2-191_190insA, here referred to as c.128-(191_192)dupA] has been reported as a SIDS-associated mutation in an African-American population. We tested this association in an independent dataset: 137 autopsied cases (78 SIDS, 59 controls) and an additional 296 control DNA samples from Coriell Cell Repositories. In addition to the c.128-(191_192)dupA variant, we observed an associated single base deletion [c.128-(301–306)delG] in a subset of the samples. Neither of the two FEV variants showed significant association with SIDS in either the African-American subgroup or the overall cohort. Although we found a significant association of c.128-(191_192)dupA with SIDS when San Diego Hispanic SIDS cases were compared with San Diego Hispanic controls plus Mexican controls (p=0.04); this became non-significant after multiple testing correction. Among Coriell controls, 33/99 (33%) African-American and 0/197 (0%) of the remaining controls carry the polymorphism (c.128-(191_192)dupA). The polymorphism appears to be a common, likely non-pathogenic, variant in the African-American population. PMID:19707175

  20. Sleep and arousal patterns of co-sleeping human mother/infant pairs: a preliminary physiological study with implications for the study of sudden infant death syndrome (SIDS).

    PubMed

    McKenna, J J; Mosko, S; Dungy, C; McAninch, J

    1990-11-01

    The prevailing research design for studying infant sleep erroneously assumes the species-wide normalcy of solitary nocturnal sleep rather than a social sleeping environment. In fact, current clinical perspectives on infant sleep, which are based exclusively on studies of solitary sleeping infants, may partly reflect culturally induced rather than species-typical infant sleep patterns which can only be gleaned, we contend here, from infants sleeping with their parents--the context within which, and for well over 4 million years, the hominid infant's sleep, breathing, and arousal patterns evolved. Our physiological study of five co-sleeping mother-infant pairs in a sleep lab is the first study of its kind to document the unfolding sleep patterns of mothers and infants sleeping in physical contact. Our data show that co-sleeping mothers and infants exhibit synchronous arousals, which, because of the suspected relationship between arousal and breathing stability in infants, have important implications for how we study environmental factors possibly related to some forms of the sudden infant death syndrome (SIDS). While our data show that co-sleeping mothers and infants also experience many moments of physiological independence from each other, it is clear that the temporal unfolding of particular sleep stages and awake periods of the mother and infant become entwined and that on a minute-to-minute basis, throughout the night, much sensory communication is occurring between them. Our research acknowledges the human infant's evolutionary past and considers the implications that nocturnal separation (a historically novel and alien experience for them) has for maternal and infant well-being in general and SIDS research strategies in particular.

  1. Childhood sleep disorders: diagnostic and therapeutic approaches.

    PubMed

    Pearl, Phillip L

    2002-03-01

    Pediatric sleep physiology begins with development of the sleep/wake cycle, and the origins of active versus quiet sleep. The 24-hour circadian cycle becomes established at 3 to 6 months. Sleep disorders are rationally approached in pediatrics as age-related. Disorders during infancy commonly include mild, usually self-limited conditions such as sleep-onset association disorder, excessive nighttime feedings, and poor limit-setting. These require behavioral management to avoid long-term deleterious sleep habits. In contrast, other sleep disorders are more ominous, including sudden infant death syndrome (SIDS), central congenital hypoventilation syndrome, and sleep apnea. Childhood is generally the golden age of sleep, with brief latency, high efficiency, and easy awakening. Parasomnias, sometimes stage specific, are manifest here. Adolescents have sleep requirements similar to preteens, posing a challenge for them to adapt to school schedules and lifestyles. Narcolepsy, usually diagnosed in adolescence or early adulthood, is a lifelong sleep disorder that has led to the identification of the hypocretin/orexin neurotransmitter system. This will lead to enhanced understanding of what regulates stage rapid eye movement, and to novel therapeutic advances for hypersomnolence.

  2. Childhood Memories.

    ERIC Educational Resources Information Center

    Soto, Lourdes Diaz

    2001-01-01

    Describes how artwork can be a valuable catalyst for discussions in preservice education classes, allowing students to explore how their work as educators relates to their childhood memories and can be shaped by childhood experiences. Examines an art exhibition in which diverse artists depicted autobiographical text in their paintings. Discusses…

  3. Combination Chemotherapy With or Without Bone Marrow Transplantation in Treating Children With Acute Myelogenous Leukemia or Myelodysplastic Syndrome

    ClinicalTrials.gov

    2013-01-15

    Childhood Acute Erythroleukemia (M6); Childhood Acute Megakaryocytic Leukemia (M7); Childhood Acute Monoblastic Leukemia (M5a); Childhood Acute Monocytic Leukemia (M5b); Childhood Acute Myeloblastic Leukemia With Maturation (M2); Childhood Acute Myeloblastic Leukemia Without Maturation (M1); Childhood Acute Myelomonocytic Leukemia (M4); Childhood Myelodysplastic Syndromes; Chronic Myelomonocytic Leukemia; de Novo Myelodysplastic Syndromes; Refractory Anemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Refractory Anemia With Ringed Sideroblasts; Secondary Myelodysplastic Syndromes; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

  4. 4H Syndrome

    MedlinePlus

    ... syndrome appears normal. Symptoms usually start during the second year of life, but patients with normal early childhood and symptoms only from the second decade have been described. Neurological symptoms include: Late ...

  5. Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

    PubMed Central

    Ashrafi, Farzad; Pakdaman, Hossein; Arabahmadi, Mehran; Behnam, Behdad

    2017-01-01

    Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years. It is causedby failure of mitochondrial respiratory chain and often results in regression of both mental and motor skills and might even lead to death. In some of the inherited neurodegenerative diseases like Alexander disease, head trauma is reported as a trigger for onset of the disease. We present a late onset Leigh syndrome in a 14-year-old girl whose symptoms were initiating following head trauma. PMID:28286850

  6. Sudden Infant Death Syndrome (SIDS)

    MedlinePlus

    ... CA, et al. American Indian and Alaska Native infant and pediatric mortality, United States, 1999-2009. American Journal of Public Health. 2014;104:S320. Oct. 28, 2016 Original article: ... . Mayo Clinic ...

  7. CHILDHOOD OBESITY

    PubMed Central

    Lakshman, Rajalakshmi; Elks, Cathy E.; Ong, Ken K.

    2013-01-01

    Clinical summary Childhood obesity has important consequences for health and wellbeing both during childhood and also in later adult life. The rising prevalence of childhood obesity poses a major public health challenge in both developed and developing countries by increasing the burden of chronic non-communicable diseases. Despite the urgent need for effective preventative strategies, there remains disagreement over its definition due to a lack of evidence on the optimal cut-offs linking childhood BMI to disease risks, and limited evidence on the most effective components of interventions to prevent childhood obesity. This article reviews the trends in childhood obesity, its genetic, nutritional and other risk factors, and preventative and treatment strategies. Particular emphasis is given to early-onset obesity in pre-school children, which, as a precursor to later childhood and adult obesity, provides insights into the developmental and genetic origins of obesity and also offers the potential for early preventative approaches with long-lasting benefits. PMID:23027812

  8. Childhood Leukemia

    MedlinePlus

    Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. ... blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. ...

  9. An illustrative example of infant and child death review in South Dakota: "the 1998 annual report of the Regional Infant and Child Mortality Review Committee".

    PubMed

    Randall, B; Wilson, A

    1999-11-01

    Local, regional, or state infant and child death review teams provide an excellent mechanism for identifying risk factors for infant and childhood deaths along with establishing a conduit for effecting preventive measures to reduce the number of deaths in these particularly vulnerable age groups. In 1997, a predecessor of the current Regional Infant and Child Mortality Review Committee was established in Minnehaha County as South Dakota's first non-Indian review committee for infant and childhood deaths. The 1998 Review Committee's annual report to the public is presented in this paper as an illustration of what can be expected from such a committee along with the specific public health concerns identified and their potential remedies. Especially noted in the committee's 1998 report is an alarming increase in Sudden Infant Death Syndrome (SIDS) death in the region and the educational role the Back to Sleep Campaign can play in the prevention of SIDS. The annual report serves as an example to illustrate how local review mechanisms can identify community strategies that may promote the health and well being of infants and children in their review areas.

  10. Effects of recommendations to follow the Dietary Approaches to Stop Hypertension (DASH) diet v. usual dietary advice on childhood metabolic syndrome: a randomised cross-over clinical trial.

    PubMed

    Saneei, Parvane; Hashemipour, Mahin; Kelishadi, Roya; Rajaei, Somayeh; Esmaillzadeh, Ahmad

    2013-12-01

    The effects of the Dietary Approaches to Stop Hypertension (DASH) eating plan on childhood metabolic syndrome (MetS) and insulin resistance remain to be determined. The present study aimed to assess the effects of recommendations to follow the DASH diet v. usual dietary advice (UDA) on the MetS and its features in adolescents. In this randomised cross-over clinical trial, sixty post-pubescent adolescent girls with the MetS were randomly assigned to receive either the recommendations to follow the DASH diet or UDA for 6 weeks. After a 4-week washout period, the participants were crossed over to the alternate arm. The DASH group was recommended to consume a diet rich in fruits, vegetables and low-fat dairy products and low in saturated fats, total fats and cholesterol. UDA consisted of general oral advice and written information about healthy food choices based on healthy MyPlate. Compliance was assessed through the quantification of plasma vitamin C levels. In both the groups, fasting venous blood samples were obtained at baseline and at the end of each phase of the intervention. The mean age and weight of the participants were 14.2 (SD 1.7) years and 69 (SD 14.5) kg, respectively. Their mean BMI and waist circumference were 27.3 kg/m2 and 85.6 cm, respectively. Serum vitamin C levels tended to be higher in the DASH phase than in the UDA phase (860 (SE 104) v. 663 (SE 76) ng/l, respectively, P= 0.06). Changes in weight, waist circumference and BMI were not significantly different between the two intervention phases. Although changes in systolic blood pressure were not statistically significant between the two groups (P= 0.13), recommendations to follow the DASH diet prevented the increase in diastolic blood pressure compared with UDA (P= 0.01). We found a significant within-group decrease in serum insulin levels (101.4 (SE 6.2) v. 90.0 (SE 5.5) pmol/l, respectively, P= 0.04) and a non-significant reduction in the homeostasis model assessment for insulin resistance

  11. Benign Occipital Epilepsies of Childhood: Clinical Features and Genetics

    ERIC Educational Resources Information Center

    Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.

    2008-01-01

    The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

  12. Children and Grief: The Role of the Early Childhood Educator.

    ERIC Educational Resources Information Center

    Hopkins, Andrea Ruth

    2002-01-01

    Describes how young children's perceptions of death relate to their stage of cognitive development. Discusses basic responsibilities of teachers regarding death education in early childhood settings: helping children feel safe while acknowledging the reality of death, promoting an accepting classroom atmosphere, and providing developmentally…

  13. Allergy and acute leukaemia in children with Down syndrome: a population study. Report from the Mexican inter-institutional group for the identification of the causes of childhood leukaemia

    PubMed Central

    Núñez-Enríquez, J C; Fajardo-Gutiérrez, A; Buchán-Durán, E P; Bernáldez-Ríos, R; Medina-Sansón, A; Jiménez-Hernández, E; Amador-Sanchez, R; Peñaloza-Gonzalez, J G; Paredes-Aguilera, R; Alvarez-Rodriguez, F J; Bolea-Murga, V; de Diego Flores-Chapa, J; Flores-Lujano, J; Bekker-Mendez, V C; Rivera-Luna, R; del Carmen Rodriguez-Zepeda, M; Rangel-López, A; Dorantes-Acosta, E M; Núñez-Villegas, N; Velazquez-Aviña, M M; Torres-Nava, J R; Reyes-Zepeda, N C; Cárdenas-Cardos, R; Flores-Villegas, L V; Martinez-Avalos, A; Salamanca-Gómez, F; Gorodezky, C; Arellano-Galindo, J; Mejía-Aranguré, J M

    2013-01-01

    Background: Allergies have been described as protective factors against the development of childhood acute leukaemia (AL). Our objective was to investigate the associations between allergy history and the development of AL and acute lymphoblastic leukaemia (ALL) in children with Down syndrome (DS). Methods: A case–control study was performed in Mexico City. The cases (n=97) were diagnosed at nine public hospitals, and the controls (n=222) were recruited at institutions for children with DS. Odds ratios (OR) were calculated. Results: Asthma was positively associated with AL development (OR=4.18; 95% confidence interval (CI): 1.47–11.87), whereas skin allergies were negatively associated (OR=0.42; 95% CI: 0.20–0.91). Conclusion: Our findings suggest that allergies and AL in children with DS share biological and immune mechanisms. To our knowledge, this is the first study reporting associations between allergies and AL in children with DS. PMID:23695017

  14. Invariant death.

    PubMed

    Frank, Steven A

    2016-01-01

    In nematodes, environmental or physiological perturbations alter death's scaling of time. In human cancer, genetic perturbations alter death's curvature of time. Those changes in scale and curvature follow the constraining contours of death's invariant geometry. I show that the constraints arise from a fundamental extension to the theories of randomness, invariance and scale. A generalized Gompertz law follows. The constraints imposed by the invariant Gompertz geometry explain the tendency of perturbations to stretch or bend death's scaling of time. Variability in death rate arises from a combination of constraining universal laws and particular biological processes.

  15. Childhood Obesity

    ERIC Educational Resources Information Center

    Yuca, Sevil Ari, Ed.

    2012-01-01

    This book aims to provide readers with a general as well as an advanced overview of the key trends in childhood obesity. Obesity is an illness that occurs due to a combination of genetic, environmental, psychosocial, metabolic and hormonal factors. The prevalence of obesity has shown a great rise both in adults and children in the last 30 years.…

  16. Childhood Cancer

    MedlinePlus

    ... they demand more and more of the body's nutrition. Cancer takes a person's strength, destroys organs and bones, and weakens the body's defenses against other illnesses. Cancer is uncommon in children, but can happen. The most common childhood cancers are leukemia , lymphoma , and brain cancer . As ...

  17. Appalachian Childhood.

    ERIC Educational Resources Information Center

    Arnow, Pat, Ed.; Cheek, Pauline, Ed.

    1987-01-01

    This magazine offers interviews, short stories and articles with a general focus on childhood in Appalachia. Two interviews include: "Creative Response to Life-Pauline Cheek," by Jane Harris Woodside, and "Insights and Experience: A Talk with Eliot Wigginton," by Pauline Binkley Cheek. Short stories include: "Thief in the…

  18. Second Childhood.

    ERIC Educational Resources Information Center

    Arluke, Arnold; Levin, Jack

    1982-01-01

    Ageism (unfair stereotyping of older adults), deeply embedded in the culture of 20th-century America, is reinforced by television and newspapers. The media depict old people as rigid, meddlesome, sexless, conservative, unhealthy, and forgetful. Most pernicious of all old age stereotypes is that of second childhood. Popular culture portrays…

  19. Evolving phenotype of Marfan's syndrome

    PubMed Central

    Lipscomb, K.; Clayton-Smith, J.; Harris, R.

    1997-01-01

    Accepted 20 August 1996
 AIM—To examine evolution of the physical characteristics of Marfan's syndrome throughout childhood.
METHODS—40 children were ascertained during the development of a regional register for Marfan's syndrome. Evolution of the clinical characteristics was determined by repeat evaluation of 10 patients with sporadic Marfan's syndrome and 30 with a family history of the condition. DNA marker studies were used to facilitate diagnosis in those with the familial condition.
RESULTS—Musculoskeletal features predominated and evolved throughout childhood. Gene tracking enabled early diagnosis in children with familial Marfan's syndrome.
CONCLUSIONS—These observations may aid the clinical diagnosis of Marfan's syndrome in childhood, especially in those with the sporadic condition. Gene tracking has a role in the early diagnosis of familial Marfan's syndrome, allowing appropriate follow up and preventive care.

 PMID:9059160

  20. Longitudinal study of childhood adiposity and the risk of developing components of metabolic syndrome-the Da Qing children cohort study.

    PubMed

    Chen, Yan-Yan; Lee, Yung-Seng; Wang, Jin-Ping; Jiang, Ya-Yun; Li, Hui; An, Ya-Li; Hu, Ying-Hua; Lee, Kok O; Li, Guang-Wei

    2011-09-01

    Childhood adiposity is increasingly recognized as a significant predictor of cardiometabolic risks in later life. The aim of this study was to investigate factors associated with longitudinal changes in weight during childhood and the development of metabolic disease risk factors. Four hundred twenty-four children from DaQing city, China, were recruited at 5 y old and followed up for 5 y. Birth weight, television (TV) viewing time at 5 y old, blood pressure, anthropometric measurements, fasting plasma insulin (FI), and triglycerides (TG) levels were measured at 5 and 10 y old. Both birth weight and TV viewing time at 5 y old significantly correlated with percentage of ideal weight for height (WFH) at 5 y old (WFH5; p = 0.0032 and p = 0.01), but only TV time was significantly correlated with WFH at 10 y old (WFH10; p < 0.0001). Blood pressures, FI, homeostasis model assessment for insulin resistance (HOMA-IR), and TG at 10 y old were significantly greater in those children who had greater change in WFH from 5 to 10 y old (ΔWFH). We concluded that TV viewing time was the stronger determinant of later childhood adiposity. A greater ΔWFH was associated with increased cardiometabolic risk factors at 10 y old.

  1. Genetics Home Reference: Horner syndrome

    MedlinePlus

    ... childhood cancer of the nerve tissues called a neuroblastoma . Horner syndrome can also be caused by problems ... roles of imaging and urine studies to detect neuroblastoma and other responsible mass lesions. Am J Ophthalmol. ...

  2. Genetics Home Reference: Weaver syndrome

    MedlinePlus

    ... slightly increased risk of developing a tumor called neuroblastoma in early childhood, but the small number of ... Coulter D, Powell CM, Gold S. Weaver syndrome and neuroblastoma. J Pediatr Hematol Oncol. 2008 Oct;30(10): ...

  3. New Light on Autism and Other Puzzling Disorders of Childhood. Science Reports.

    ERIC Educational Resources Information Center

    Yahraes, Herbert

    The pamphlet discusses several puzzling disorders of childhood, including autism, atypical personality development (childhood psychosis), psychosocial dwarfism, and Tourette's syndrome. Psychosocial dwarfism is said to be characterized by a marked reduction in physical development and by immaturity in behavior, while Tourette's syndrome involves…

  4. Childhood Obesity

    PubMed Central

    Ahmad, Qazi Iqbal; Ahmad, Charoo Bashir; Ahmad, Sheikh Mushtaq

    2010-01-01

    Obesity is increasing at an alarming rate throughout the world. Today it is estimated that there are more than 300 million obese people world-wide. Obesity is a condition of excess body fat often associated with a large number of debilitating and life-threatening disorders. It is still a matter of debate as to how to define obesity in young people. Overweight children have an increased risk of being overweight as adults. Genetics, behavior, and family environment play a role in childhood overweight. Childhood overweight increases the risk for certain medical and psychological conditions. Encourage overweight children to expand high energy activity, minimize low energy activity (screen watching), and develop healthful eating habits. Breast feeding is protective against obesity. Diet restriction is not recommended in very young children. Children are to be watched for gain in height rather than reduction in weight. Weight reduction of less than 10% is a normal variation, not significant in obesity. PMID:21448410

  5. Childhood Stress

    MedlinePlus

    ... anyone who feels overwhelmed — even kids. In preschoolers, separation from parents can cause anxiety. As kids get ... illness, death of a loved one, or a divorce . When these are added to the everyday pressures ...

  6. Childhood rhabdomyosarcoma.

    PubMed

    Córdoba Rovira, S M; Inarejos Clemente, E J

    Rhabdomyosarcoma is the most common soft-tissue sarcoma in children; it can appear in any part of the body. Its biological behavior varies widely, and despite the absence of specific clinical or radiological characteristics, rhabdomyosarcoma should be taken into account in the differential diagnosis of solid tumors in children. This review focuses primarily on the imaging findings and anatomical distribution of the histological subtypes of childhood rhabdomyosarcoma and secondarily on the differential findings in histological studies.

  7. Death foretold.

    PubMed

    Biderman, A; Herman, J

    2000-01-01

    We briefly trace the history of a belief in the possibility that a person in apparent good health may accurately predict his or her own demise. The phenomenon is referred to as death foretold and we present presumed examples of it from the Bible, world literature, medical writings and newspaper reports without pretending to completeness. In two widely quoted scientific papers, death foretold is subsumed under the wider heading of decease due to psychic stress. We speculate on a possible link between the two, taking into consideration the fact that most people who prophesy their end are of an advanced age.

  8. Shaken baby syndrome: pathogenetic mechanism, clinical features and preventive aspects.

    PubMed

    Vitale, A; Vicedomini, D; Vega, G R; Greco, N; Messi, G

    2012-12-01

    The shaken baby syndrome (SBS) is an extremely serious form of child abuse and a leading cause of death and disability in childhood. The syndrome usually occurs in infants younger than 1 year when a parent or a care-giver tries to stop the baby from crying by vigorous manual shaking. The repetitive oscillations with rotational acceleration of the head can result in injuries of both vascular and neuronal structures. The most frequent injuries associated with SBS include encephalopathy, retinal hemorrhages, and subdural hemorrhage. Fractures of the vertebrae, long bones, and ribs may also be associated with the syndrome. Victims of abuse have various presenting signs and symptoms ranging from irritability, decreased responsiveness and lethargy to convulsions, and death. Diagnosis is often difficult because usually parents or caregivers not tell the truth about what has happened to their child and because usually there is no external evidence of trauma. However, the syndrome might be suspected if the information provided are vague or changing and when the child presents with retinal hemorrhages, subdural hematoma, or fractures that cannot be explained by accidental trauma or other medical conditions. Of infants who are victims of SBS, approximately 15% to 38% die and 30% are at risk of long-term neurologic sequelae, including cognitive and behavioural disturbances, motor and visual deficits, learning deficits and epilepsy. Parents and caregivers must be warned about the dangers of shaking infants.

  9. Brugada Syndrome and Pregnancy: Highlights on Antenatal and Prenatal Management

    PubMed Central

    Maiorana, Antonio; Alio, Walter; Alio, Luigi

    2014-01-01

    Introduction. Brugada syndrome is characterized by a disruption of heart's normal rhythm. It is an autosomal dominant disease due to a mutation of SNC5A gene. Its prevalence is low all over the world, but it is a lethal disease. Sudden cardiac death is the result of phenotypic manifestation of Brugada syndrome. Among asymptomatic Brugada patients, arrhythmia could be provoked by physical activity, fever, or pregnancy. About obstetrical management, very few data or reports have been published since this syndrome has been diagnosed in late 1992. Case Presentation. A 20-year-old pregnant woman at 13 weeks of gestation was referred to our department because of her familial history of sudden cardiac deaths. Brothers and sisters of her mother died of Brugada syndrome in childhood or older and live components of this family were carrier of mutation in Brugada gene. The pregnancy was uneventful. The patient gave birth vaginally without any arrhythmia. Strictly cardiological monitoring was performed during labour, delivery, and 12 hours of the postpartum. Conclusion. Even though patient at low risk may never have arrhythmia, some conditions could represent a Brugada trigger. The management could be very easy and uneventful. Otherwise it could be very difficult with need of ECMO or antiarrhythmics drugs or intracardiac device. Obstetrical management of Brugada pregnant women should be very strict and multidisciplinary in cooperation with cardiologist and anaesthesiologist and should provide an informed consent to the couple. PMID:24963427

  10. Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome

    PubMed Central

    Brown, Brande; Agdere, Levon; Muntean, Cornelia; David, Karen

    2016-01-01

    Patient: Female, 6 Final Diagnosis: Allgrove syndrome Symptoms: Achalasia • adrenal insufficiency • alacrima Medication: — Clinical Procedure: — Specialty: Pediatrics and Neonatology Objective: Rare disease Background: Allgrove syndrome, or triple “A” syndrome (3A syndrome), is a rare autosomal recessive syndrome with variable phenotype, and an estimated prevalence of 1 per 1,000,000 individuals. Patients usually display the triad of achalasia, alacrima, and adrenocorticotropin (ACTH) insensitive adrenal insufficiency, though the presentation is inconsistent. Case Report: Here, the authors report a case of Allgrove syndrome in a pediatric patient with delayed diagnosis in order to raise awareness of this potentially fatal disease as a differential diagnosis of alacrima. Conclusions: The prevalence of Allgrove syndrome may be much higher as a result of underdiagnosis and missed diagnosis due to the variable presentation and sudden unexplained childhood death from adrenal crisis. The authors review the characteristic symptoms of Allgrove syndrome in relation to the case study in order to avoid missed or delayed diagnosis, potentially decreasing morbidity, and mortality in those affected by this disease. PMID:27698338

  11. Age-related consequences of childhood obesity.

    PubMed

    Kelsey, Megan M; Zaepfel, Alysia; Bjornstad, Petter; Nadeau, Kristen J

    2014-01-01

    The severity and frequency of childhood obesity has increased significantly over the past three to four decades. The health effects of increased body mass index as a child may significantly impact obese youth as they age. However, many of the long-term outcomes of childhood obesity have yet to be studied. This article examines the currently available longitudinal data evaluating the effects of childhood obesity on adult outcomes. Consequences of obesity include an increased risk of developing the metabolic syndrome, cardiovascular disease, type 2 diabetes and its associated retinal and renal complications, nonalcoholic fatty liver disease, obstructive sleep apnea, polycystic ovarian syndrome, infertility, asthma, orthopedic complications, psychiatric disease, and increased rates of cancer, among others. These disorders can start as early as childhood, and such early onset increases the likelihood of early morbidity and mortality. Being obese as a child also increases the likelihood of being obese as an adult, and obesity in adulthood also leads to obesity-related complications. This review outlines the evidence for childhood obesity as a predictor of adult obesity and obesity-related disorders, thereby emphasizing the importance of early intervention to prevent the onset of obesity in childhood.

  12. The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6.

    PubMed

    Footz, T K; Birren, B; Minoshima, S; Asakawa, S; Shimizu, N; Riazi, M A; McDermid, H E

    1998-08-01

    Cat eye syndrome (CES) is associated with a duplication of a segment of human chromosome 22q11.2. Only one gene, ATP6E, has been previously mapped to this duplicated region. We now report the mapping of the human homologue of the apoptotic agonist Bid to human chromosome 22 near locus D22S57 in the CES region. Dosage analysis demonstrated that BID is located just distal to the CES region critical for the majority of malformations associated with the syndrome (CESCR), as previously defined by a single patient with an unusual supernumerary chromosome. However, BID remains a good candidate for involvement in CES-related mental impairment, and its overexpression may subtly add to the phenotype of CES patients. Our mapping of murine Bid confirms that the synteny of the CESCR and the 22q11 deletion syndrome critical region immediately telomeric on human chromosome 22 is not conserved in mice. Bid and adjacent gene Atp6e were found to map to mousechromosome 6, while the region homologous to the DGSCR is known to map to mouse chromosome 16.

  13. Protein metabolism in severe childhood malnutrition

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The major clinical syndromes of severe childhood malnutrition (SCM) are marasmus (non-oedematous SCM), kwashiorkor and marasmic-kwashiorkor (oedematous SCM). Whereas treatment of marasmus is straightforward and the associated mortality is low, kwashiorkor and marasmic-kwashiorkor are difficult to tr...

  14. Cranial nerve palsies in childhood

    PubMed Central

    Lyons, C J; Godoy, F; ALQahtani, E

    2015-01-01

    We review ocular motor cranial nerve palsies in childhood and highlight many of the features that differentiate these from their occurrence in adulthood. The clinical characteristics of cranial nerve palsies in childhood are affected by the child's impressive ability to repair and regenerate after injury. Thus, aberrant regeneration is very common after congenital III palsy; Duane syndrome, the result of early repair after congenital VI palsy, is invariably associated with retraction of the globe in adduction related to the innervation of the lateral rectus by the III nerve causing co-contraction in adduction. Clinical features that may be of concern in adulthood may not be relevant in childhood; whereas the presence of mydriasis in III palsy suggests a compressive aetiology in adults, this is not the case in children. However, the frequency of associated CNS abnormalities in III palsy and the risk of tumour in VI palsy can be indications for early neuroimaging depending on presenting features elicited through a careful history and clinical examination. The latter should include the neighbouring cranial nerves. We discuss the impact of our evolving knowledge of congenital cranial dysinnervation syndromes on this field. PMID:25572578

  15. Managing Neonatal and Early Childhood Syndromic Sepsis in Sub-District Hospitals in Resource Poor Settings: Improvement in Quality of Care through Introduction of a Package of Interventions in Rural Bangladesh

    PubMed Central

    Iqbal, Afrin; Hoque, D. M. Emdadul; Moinuddin, Md.; Zaman, Sojib Bin; Rahman, Qazi Sadeq-ur; Begum, Tahmina; Chowdhury, Atique Iqbal; Haider, Rafiqul; Arifeen, Shams El; Kissoon, Niranjan; Larson, Charles P.

    2017-01-01

    Introduction Sepsis is dysregulated systemic inflammatory response which can lead to tissue damage, organ failure, and death. With an estimated 30 million cases per year, it is a global public health concern. Severe infections leading to sepsis account for more than half of all under five deaths and around one quarter of all neonatal deaths annually. Most of these deaths occur in low and middle income countries and could be averted by rapid assessment and appropriate treatment. Evidence suggests that service provision and quality of care pertaining to sepsis management in resource poor settings can be improved significantly with minimum resource allocation and investments. Cognizant of the stark realities, a project titled ‘Interrupting Pathways to Sepsis Initiative’ (IPSI) introduced a package of interventions for improving quality of care pertaining to sepsis management at 2 sub-district level public hospitals in rural Bangladesh. We present here the quality improvement process and achievements regarding some fundamental steps of sepsis management which include rapid identification and admission, followed by assessment for hypoxemia, hypoglycaemia and hypothermia, immediate resuscitation when required and early administration of parenteral broad spectrum antibiotics. Materials and Method Key components of the intervention package include identification of structural and functional gaps through a baseline environmental scan, capacity development on protocolized management through training and supportive supervision by onsite ‘Program Coaches’, facilitating triage and rapid transfer of patients through ‘Welcoming Persons’ and enabling rapid treatment through ‘Task Shifting’ from on-call physicians to on-duty paramedics in the emergency department and on-call physicians to on-duty nurses in the inpatient department. Results From August, 2013 to March, 2015, 1,262 under-5 children were identified as syndromic sepsis in the emergency departments; of

  16. BMS-214662 in Treating Patients With Acute Leukemia, Myelodysplastic Syndrome, or Chronic Myeloid Leukemia

    ClinicalTrials.gov

    2013-01-22

    Adult Acute Promyelocytic Leukemia (M3); Blastic Phase Chronic Myelogenous Leukemia; Childhood Myelodysplastic Syndromes; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Refractory Anemia With Excess Blasts; Refractory Anemia With Excess Blasts in Transformation; Relapsing Chronic Myelogenous Leukemia

  17. Induction of autophagy-dependent necroptosis is required for childhood acute lymphoblastic leukemia cells to overcome glucocorticoid resistance

    PubMed Central

    Bonapace, Laura; Bornhauser, Beat C.; Schmitz, Maike; Cario, Gunnar; Ziegler, Urs; Niggli, Felix K.; Schäfer, Beat W.; Schrappe, Martin; Stanulla, Martin; Bourquin, Jean-Pierre

    2010-01-01

    In vivo resistance to first-line chemotherapy, including to glucocorticoids, is a strong predictor of poor outcome in children with acute lymphoblastic leukemia (ALL). Modulation of cell death regulators represents an attractive strategy for subverting such drug resistance. Here we report complete resensitization of multidrug-resistant childhood ALL cells to glucocorticoids and other cytotoxic agents with subcytotoxic concentrations of obatoclax, a putative antagonist of BCL-2 family members. The reversal of glucocorticoid resistance occurred through rapid activation of autophagy-dependent necroptosis, which bypassed the block in mitochondrial apoptosis. This effect was associated with dissociation of the autophagy inducer beclin-1 from the antiapoptotic BCL-2 family member myeloid cell leukemia sequence 1 (MCL-1) and with a marked decrease in mammalian target of rapamycin (mTOR) activity. Consistent with a protective role for mTOR in glucocorticoid resistance in childhood ALL, combination of rapamycin with the glucocorticoid dexamethasone triggered autophagy-dependent cell death, with characteristic features of necroptosis. Execution of cell death, but not induction of autophagy, was strictly dependent on expression of receptor-interacting protein (RIP-1) kinase and cylindromatosis (turban tumor syndrome) (CYLD), two key regulators of necroptosis. Accordingly, both inhibition of RIP-1 and interference with CYLD restored glucocorticoid resistance completely. Together with evidence for a chemosensitizing activity of obatoclax in vivo, our data provide a compelling rationale for clinical translation of this pharmacological approach into treatments for patients with refractory ALL. PMID:20200450

  18. [Lucja Frey (1889-1943) in the 50th anniversary of her tragic death and 70th anniversary of the auriculotemporal syndrome].

    PubMed

    Bennet, J D; Pietruski, J

    1993-01-01

    Lucja Frey was a Polish neurologist born and lived in Lwów, former east Polish town, and died during the war in Lwów's ghetto. In 1923 she described the auriculo-temporalis syndrome, at present well known all over the world. But personality and history of the extraordinary Polish scientist remains obscure. The aim of this paper is to present her silhouette. Because a great number of Polish scientists are also not known abroad, the authors tried to explain the causes of their absence in the world bibliography.

  19. Brain death.

    PubMed

    Wijdicks, Eelco F M

    2013-01-01

    The diagnosis of brain death should be based on a simple premise. If every possible confounder has been excluded and all possible treatments have been tried or considered, irreversible loss of brain function is clinically recognized as the absence of brainstem reflexes, verified apnea, loss of vascular tone, invariant heart rate, and, eventually, cardiac standstill. This condition cannot be reversed - not even partly - by medical or surgical intervention, and thus is final. Many countries in the world have introduced laws that acknowledge that a patient can be declared brain-dead by neurologic standards. The U.S. law differs substantially from all other brain death legislation in the world because the U.S. law does not spell out details of the neurologic examination. Evidence-based practice guidelines serve as a standard. In this chapter, I discuss the history of development of the criteria, the current clinical examination, and some of the ethical and legal issues that have emerged. Generally, the concept of brain death has been accepted by all major religions. But patients' families may have different ideas and are mostly influenced by cultural attitudes, traditional customs, and personal beliefs. Suggestions are offered to support these families.

  20. Health-related Quality of Life (HR-QOL) and Chronic Health Conditions in Survivors of Childhood Acute Myeloid Leukemia (AML) with Down Syndrome (DS): A Report From the Children's Oncology Group.

    PubMed

    Schultz, Kris Ann P; Chen, Lu; Kunin-Batson, Alicia; Chen, Zhengjia; Woods, William G; Gamis, Alan; Kawashima, Toana; Oeffinger, Kevin C; Nicholson, H Stacy; Neglia, Joseph P

    2017-01-01

    Survival rates for children with Down syndrome (DS) and acute myeloid leukemia (AML) are high; however, little is known regarding the health-related quality of life (HR-QOL) of these survivors. Individuals who survived ≥5 years following diagnosis of childhood AML were invited to complete parent or patient-report surveys measuring HR-QOL and chronic health conditions. In total, 26 individuals with DS had a median age at diagnosis of 1.8 years (range, 0.77 to 10.9 y) and median age at interview of 15 years (range, 8.3 to 27.6 y). Participants with DS and AML were compared with AML survivors without DS whose caregiver completed a HR-QOL survey (CHQ-PF50). In total, 77% of survivors with DS reported ≥1 chronic health condition compared with 50% of AML survivors without DS (P=0.07). Mean physical and psychosocial QOL scores for children with DS and AML were statistically lower than the population mean, though not discrepant from AML survivors without DS. Although the overall prevalence of chronic health conditions in survivors with DS is higher than in survivors without DS, prior studies of children with DS have reported similarly high rates of chronic health conditions, suggesting that AML therapy may not substantially increase this risk.

  1. Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH Syndrome.

    PubMed

    Zanatta, Ângela; Rodrigues, Marília Danyelle Nunes; Amaral, Alexandre Umpierrez; Souza, Débora Guerini; Quincozes-Santos, André; Wajner, Moacir

    2016-09-01

    Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is caused by deficiency of ornithine translocase leading to predominant tissue accumulation and high urinary excretion of ornithine (Orn), homocitrulline (Hcit) and ammonia. Although affected patients commonly present neurological dysfunction manifested by cognitive deficit, spastic paraplegia, pyramidal and extrapyramidal signs, stroke-like episodes, hypotonia and ataxia, its pathogenesis is still poorly known. Although astrocytes are necessary for neuronal protection. Therefore, in the present study we investigated the effects of Orn and Hcit on cell viability (propidium iodide incorporation), mitochondrial function (thiazolyl blue tetrazolium bromide-MTT-reduction and mitochondrial membrane potential-ΔΨm), antioxidant defenses (GSH) and pro-inflammatory response (NFkB, IL-1β, IL-6 and TNF-α) in unstimulated and menadione-stressed cortical astrocytes that were previously shown to be susceptible to damage by neurotoxins. We first observed that Orn decreased MTT reduction, whereas both amino acids decreased GSH levels, without altering cell viability and the pro-inflammatory factors in unstimulated astrocytes. Furthermore, Orn and Hcit decreased cell viability and ΔΨm in menadione-treated astrocytes. The present data indicate that the major compounds accumulating in HHH syndrome impair mitochondrial function and reduce cell viability and the antioxidant defenses in cultured astrocytes especially when stressed by menadione. It is presumed that these mechanisms may be involved in the neuropathology of this disease.

  2. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

    PubMed Central

    Ward, Christopher S.; Huang, Teng-Wei; Herrera, José A.; Samaco, Rodney C.; Pitcher, Meagan R.; Herron, Alan; Skinner, Steven A.; Kaufmann, Walter E.; Glaze, Daniel G.; Percy, Alan K.; Neul, Jeffrey L.

    2016-01-01

    Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized. PMID:27828991

  3. Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

    PubMed

    Ward, Christopher S; Huang, Teng-Wei; Herrera, José A; Samaco, Rodney C; Pitcher, Meagan R; Herron, Alan; Skinner, Steven A; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K; Neul, Jeffrey L

    2016-01-01

    Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.

  4. Overview of Childhood Schizophrenia.

    ERIC Educational Resources Information Center

    Bryan, Betsy

    Childhood schizophrenia is a rare but serious disorder with complex symptoms that affect children and their families. Childhood schizophrenia was once the term applied for all childhood psychoses, including autism and mood disorders, but more recently researchers have distinguished childhood schizophrenia from other disorders. There are differing…

  5. Myths of Childhood.

    ERIC Educational Resources Information Center

    Paris, Joel

    This book calls into question the degree to which early childhood experiences affect psychological development, critiquing three related myths: (1) personality is formed by early childhood experiences; (2) mental disorders are caused by early childhood experiences; and (3) effective psychotherapy depends on reconstructing childhood experiences.…

  6. Oncology and immunology of Down syndrome

    SciTech Connect

    McCoy, E.E.; Epstein, C.J.

    1987-01-01

    There are 14 selections in this book. Some of titles are: Effects of DNA-Damaging Agents on Down Syndrome Cells: Implications for Defective DNA-Repair Mechanisms; Molecular Structure of the Avian and Mammalian ets Genes; The Immune System and Susceptability to Infections in Down's Syndrome; and Epidemiology of Down Syndrome and Childhood Acute Leukemia.

  7. RAST studies : IgE antibodies to Dermatogoides pteronyssinus (house dust mite), Aspergillus fumigatus and beta-lactoglobulin in sudden death in infancy syndrome (SDIS).

    PubMed

    Turner, K J; Baldo, B A; Hilton, J M

    1975-01-01

    The incidence of 2.5 SDIS cases per 1,000 live births found in Western Australia is in agreement with figures reported for other centres. While the age range of SDIS victims extended from two weeks to 15 months, 57 per cent of deaths occurred in children of two to four months of age. Boys outnumbered girls 1.6:1. Environmental factors are implicated in that the majority of deaths occurred in a biphasic distribution - autumn and late winter months. No significant differences were observed in total IgE levels in serum from SDIS victims, post mortem children who died in trauma of known aetiology and live control children of the same age range. Serum IgE antibodies to D.pteronyssinus were found in 37% of SDIS victims compared with 7% of matched controls (post mortem plus live groups). IgE antibodies to beta-lactoglobulin, the major allergen of cow's milk, appeared with twice the frequency in SDIS vs. control group but both groups showed a similar incidence of antibodies to the allergens of Aspergillus fumigatus. The prevalence of IgE antibodies to D.pteronyssinus in SDIS victims who died in the late winter -- early spring period was double that found in the group who died in the autumn period. Sixtyfour percent of the SDIS victims had antibodies to two or more of the three allergens tested while the control sera were positive to only one allergen. These results support the hypothesis that anaphylaxis induced by immediate hypersensitivity to D.pteronyssinus in particular may be one of the causative factors in SDIS in Western Australia.

  8. Childhood functional gastrointestinal disorders

    PubMed Central

    Rasquin-Weber, A; Hyman, P; Cucchiara, S; Fleisher, D; Hyams, J; Milla, P; Staiano, A

    1999-01-01

    This is the first attempt at defining criteria for functional gastrointestinal disorders (FGIDs) in infancy, childhood, and adolescence. The decision-making process was as for adults and consisted of arriving at consensus, based on clinical experience. This paper is intended to be a quick reference. The classification system selected differs from the one used in the adult population in that it is organized according to main complaints instead of being organ-targeted. Because the child is still developing, some disorders such as toddler's diarrhea (or functional diarrhea) are linked to certain physiologic stages; others may result from behavioral responses to sphincter function acquisition such as fecal retention; others will only be recognizable after the child is cognitively mature enough to report the symptoms (e.g., dyspepsia). Infant regurgitation, rumination, and cyclic vomiting constitute the vomiting disorders. Abdominal pain disorders are classified as: functional dyspepsia, irritable bowel syndrome (IBS), functional abdominal pain, abdominal migraine, and aerophagia. Disorders of defecation include: infant dyschezia, functional constipation, functional fecal retention, and functional non-retentive fecal soiling. Some disorders, such as IBS and dyspepsia and functional abdominal pain, are exact replications of the adult criteria because there are enough data to confirm that they represent specific and similar disorders in pediatrics. Other disorders not included in the pediatric classification, such as functional biliary disorders, do occur in children; however, existing data are insufficient to warrant including them at the present time. For these disorders, it is suggested that, for the time being, clinicians refer to the criteria established for the adult population.


Keywords: infant vomiting; cyclic vomiting syndrome; functional dyspepsia in children; irritable bowel syndrome in children; functional abdominal pain in children; functional

  9. [A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

    PubMed

    Morisada, Naoya; Tsuneishi, Syuichi; Taguchi, Kazuhiro; Yagi, Ryuzaburo; Nishiyama, Masahiro; Toyoshima, Daisaku; Nakagawa, Taku; Takeshima, Yasuhiro; Takada, Satoshi; Iijima, Kazumoto

    2016-05-01

    Beta-propeller protein-associated neurodegeneration (BPAN) is one of the neurodegenerative disorders characterized by iron deposition in the brain and is the only known disease in humans to be caused by an aberration in autophagocytosis. Here, we present the case of a 42-year-old woman with BPAN identified by the WDR45 mutation. From early childhood, she was recognized as having global developmental delay, and she frequently sucked her hand, which was considered to be a stereotypical movement. She had a febrile convulsion at 6 months of age but there was no history of epilepsy. The delay in language development was more severe than the delay in motor development; she was able to dress herself, walk unaided, and follow simple instructions until adolescence. After the age of 20, her movement ability rapidly declined. By the time she was 42 years old, she was bedridden and unable to communicate. Brain magnetic resonance imaging (MRI) at 21 years revealed no abnormality except non-specific cerebral atrophy. However, MRI at 39 years revealed abnormalities in the globus pallidus and substantia nigra, with neurodegeneration and iron accumulation in the brain. Genetic analysis for WDR45 revealed that she had a splice site mutation (NM_007075.3: c.830 + 2 T > C) which was previously reported, and a diagnosis of BPAN was confirmed. For specific therapies to be developed for BPAN in the future, it is necessary to establish early diagnosis, including genetic analysis.

  10. [Accompany death].

    PubMed

    Salvador Borrell, Montserrat

    2010-11-01

    One of the roles of nursing is to take care of the patients in terminal situation. The time, the experience, the formation, and the personal and professional attitudes that the nurse has will propitiate that taking care of moribund patients might turn into one of the more rewarding human experiences in life. There for, it is indispensable that nurses assume death as a natural and inevitable reality to achieve. The principal aim of the study is to evaluate the competence of confrontation and the autoefficiency of the welfare among nurses who work with adult patients at the end of the life. Descriptive study realized in the units of Oncology, Hametology and Palliative Care of the following centers: La Fe, Clínico, Dr. Peset, H. General, Arnau de Vilanova and Dr. Moliner de Portacoelli in Valencia (Spain). The following instruments were used: the Bugen Scale of confrontation of the Death (1980-1981) and the Robbins Scale of Autoefficiency (1992). Data suggests that major coping gives major autoeffciency and vice versa. The realized study opens numerous questions, specially related with training and the burden of preparation along the whole professional career, in order to achieve competence for coping and autoefficiency.

  11. [HELLP syndrome].

    PubMed

    Vigil-De Gracia, Paulino

    2015-01-01

    Hypertensive disorders of pregnancy are one of the most common complications of pregnancy, but one of the most serious expressions of this pathology is HELLP syndrome. The HELLP syndrome is characterized by the presence of hypertension disorder more a triad: microangiopathic hemolysis, elevated liver enzymes and low platelet count. Patient with HELLP syndrome is associated with increased maternal risk complications such as: cerebral hemorrhage, retinal detachment, hematoma/ hepatic rupture, acute renal failure, disseminated intravascular coagulation, placental abruption and therefore a maternal death. For all these reasons it is recommended to search for findings of HELLP syndrome in patients with hypertensive disorder of pregnancy. The main clinical confusion of HELLP syndrome is acute fatty liver of pregnancy, however there are parameters that help correct identification. The presence of HELLP syndrome involves a rapid termination of pregnancy and the administration of corticosteroids does not improve maternal morbidity and mortality but may help raise the platelet count, thus decreasing the need for transfusion and shorten hospital stay. Much of the decline in maternal morbidity and mortality associated with hypertensive disorders of pregnancy is in proper diagnosis and effective management of HELLP syndrome.

  12. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

    PubMed Central

    Kmoch, S.; Majewski, J.; Ramamurthy, V.; Cao, S.; Fahiminiya, S.; Ren, H.; MacDonald, I.M.; Lopez, I.; Sun, V.; Keser, V.; Khan, A.; Stránecký, V.; Hartmannová, H.; Přistoupilová, A.; Hodaňová, K.; Piherová, L.; Kuchař, L.; Baxová, A.; Chen, R.; Barsottini, O.G.P.; Pyle, A.; Griffin, H.; Splitt, M.; Sallum, J.; Tolmie, J.L.; Sampson, J.R.; Chinnery, P.; Canada, Care4Rare; Banin, E.; Sharon, D.; Dutta, S.; Grebler, R.; Helfrich-Foerster, C.; Pedroso, J.L.; Kretzschmar, D.; Cayouette, M.; Koenekoop, R.K.

    2015-01-01

    Blindness due to retinal degeneration affects millions of people worldwide, but many disease-causing mutations remain unknown. PNPLA6 encodes the patatin-like phospholipase domain containing protein 6, also known as neuropathy target esterase (NTE), which is the target of toxic organophosphates that induce human paralysis due to severe axonopathy of large neurons. Mutations in PNPLA6 also cause human spastic paraplegia characterized by motor neuron degeneration. Here we identify PNPLA6 mutations in childhood blindness in seven families with retinal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome. PNPLA6 localizes mostly at the inner segment plasma membrane in photo-receptors and mutations in Drosophila PNPLA6 lead to photoreceptor cell death. We also report that lysophosphatidylcholine and lysophosphatidic acid levels are elevated in mutant Drosophila. These findings show a role for PNPLA6 in photoreceptor survival and identify phospholipid metabolism as a potential therapeutic target for some forms of blindness. PMID:25574898

  13. Bilateral and symmetrical palmoplantar punctate keratoses in childhood: a possible clinical clue for an early diagnosis of PTEN hamartoma-tumour syndrome.

    PubMed

    Ferran, M; Bussaglia, E; Matias-Guiu, X; Pujol, R M

    2009-07-01

    Palmoplantar punctate keratoses may be the main cutaneous sign of various diseases (porokeratosis punctata palmaris et plantaris, keratosis punctata of the palmar creases, familial punctate palmoplantar keratoderma) or represent a secondary feature [Cowden's syndrome (CS) and Darier's disease]. In CS, such keratoses usually appear during the second and third decades of life, together with other mucocutaneous features. We present the case of a 3-year-old girl with palmoplantar punctate keratoses in whom diagnosis of new-onset CS was suspected only after the development of other cutaneous lesions. Genetic analysis confirmed the diagnosis. This case highlights the necessity to consider CS in the differential diagnosis when palmoplantar punctate keratoses are found, even in paediatric patients. A prompt diagnosis is important in order to monitor the development of possible underlying associated neoplasms.

  14. Invariant death

    PubMed Central

    Frank, Steven A.

    2016-01-01

    In nematodes, environmental or physiological perturbations alter death’s scaling of time. In human cancer, genetic perturbations alter death’s curvature of time. Those changes in scale and curvature follow the constraining contours of death’s invariant geometry. I show that the constraints arise from a fundamental extension to the theories of randomness, invariance and scale. A generalized Gompertz law follows. The constraints imposed by the invariant Gompertz geometry explain the tendency of perturbations to stretch or bend death’s scaling of time. Variability in death rate arises from a combination of constraining universal laws and particular biological processes. PMID:27785361

  15. Infection-related mortality in children with acute lymphoblastic leukemia: an analysis of infectious deaths on UKALL2003.

    PubMed

    O'Connor, David; Bate, Jessica; Wade, Rachel; Clack, Rachel; Dhir, Sunita; Hough, Rachael; Vora, Ajay; Goulden, Nick; Samarasinghe, Sujith

    2014-08-14

    Although infection is the major cause of treatment-related mortality (TRM) in childhood acute lymphoblastic leukemia, factors associated with infection-related mortality (IRM) are poorly understood. To address this, we report an analysis of all 75 cases of IRM in the United Kingdom Childhood Acute Lymphoblastic Leukaemia Randomised Trial 2003 (UKALL 2003). The 5-year cumulative incidence of IRM was 2.4% (95% confidence interval [CI], 1.9%-3.0%), accounting for 75 (30%) of 249 trial deaths and 75 (64%) of 117 TRM deaths. Risk for IRM as a proportion of TRM was greater in induction than other phases (77% vs 56%; P = .02). Sixty-eight percent of cases were associated with bacterial infection (64% Gram-negative) and 20% with fungal infection. Down syndrome was the most significant risk factor for IRM (odds ratio [OR], 12.08; 95% CI, 6.54-22.32; P < .0001). In addition, there was a trend toward increased IRM in girls (OR, 1.63; 95% CI, 1.02-2.61; P = .04), as well as increasing treatment intensity (regimen B vs A: OR, 2.11 [95% CI, 1.24-3.60]; regimen C vs A: OR, 1.41 [95% CI, 0.76-2.62]; P = .02). Importantly, patients with Down syndrome were at significantly higher risk for IRM during maintenance (P = .048). Our results confirm Down syndrome as a major risk factor for IRM. Enhanced supportive care and prophylactic antibiotics should be considered in high-risk patient groups and during periods of increased risk. This study was registered at http://www.controlled-trials.com/ as #ISRCTN07355119.

  16. Marital status and mortality: Does family structure in childhood matter?

    PubMed

    Kang, Jeong-Han; Kim, Jibum; Lee, Min-Ah

    2016-06-01

    It is well known that marital status is significantly associated with mortality risk. Little is known, however, regarding whether and how the effects of marital status are moderated by one's own family structure in childhood. The purposes of this study are to examine whether marital status (i.e., family structure in adulthood) and living with both biological parents in childhood (i.e., family structure in childhood) are associated with mortality risk, and whether and how the effects of marital status vary depending on family structure in childhood and gender. We analyze the risk of death in five waves of the General Social Survey (GSS) from 1994 through 2002 after linking the GSS data to death certificate data from the National Death Index through 2008. The findings indicate that being widowed increases the risk of mortality, while living with both parents in childhood lowers it. Interestingly, analysis of the interaction between marital status and family structure in childhood reveals that the disadvantage of widowhood in terms of mortality is significantly stronger for those who lived with both parents in childhood than for those who did not. Subsample analysis by gender shows that the moderating effect of living with both parents is largely equal across men and women, though statistically more robust for men. These findings suggest that living with both parents during childhood may increase vulnerability to marital disruptions due to unwanted life events such as spousal loss. Childhood advantages, ironically, may form more stressful contexts of spousal loss by lowering one's adaptability or immunity to adulthood hardships, especially when the hardships in adulthood are characteristically opposite from the childhood advantages.

  17. Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management

    PubMed Central

    Abdolrahimzadeh, Solmaz; Fameli, Valeria; Mollo, Roberto; Contestabile, Maria Teresa; Perdicchi, Andrea; Recupero, Santi Maria

    2015-01-01

    Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome. PMID:26451378

  18. Genetics of Bladder Malignant Tumors in Childhood

    PubMed Central

    Zangari, Andrea; Zaini, Johan; Gulìa, Caterina

    2016-01-01

    Bladder masses are represented by either benign or malignant entities. Malignant bladder tumors are frequent causes of disease and death in western countries. However, in children they are less common. Additionally, different features are found in childhood, in which non epithelial tumors are more common than epithelial ones. Rhabdomyosarcoma is the most common pediatric bladder tumor, but many other types of lesions may be found, such as malignant rhabdoid tumor (MRT), inflammatory myofibroblastic tumor and neuroblastoma. Other rarer tumors described in literature include urothelial carcinoma and other epithelial neoplasms. Rhabdomyosarcoma is associated to a variety of genetic syndromes and many genes are involved in tumor development. PAX3-FKHR and PAX7-FKHR (P-F) fusion state has important implications in the pathogenesis and biology of RMS, and different genes alterations are involved in the pathogenesis of P-F negative and embryonal RMS, which are the subsets of tumors most frequently affecting the bladder. These genes include p53, MEF2, MYOG, Ptch1, Gli1, Gli3, Myf5, MyoD1, NF1, NRAS, KRAS, HRAS, FGFR4, PIK3CA, CTNNB1, FBXW7, IGF1R, PDGFRA, ERBB2/4, MET, BCOR. Malignant rhabdoid tumor (MRT) usually shows SMARCB1/INI1 alterations. Anaplastic lymphoma kinase (ALK) gene translocations are the most frequently associated alterations in inflammatory myofibroblastic tumor (IMT). Few genes alterations in urothelial neoplasms have been reported in the paediatric population, which are mainly related to deletion of p16/lnk4, overexpression of CK20 and overexpression of p53. Here, we reviewed available literature to identify genes associated to bladder malignancies in children and discussed their possible relationships with these tumors. PMID:27013922

  19. Trends in childhood disease.

    PubMed

    Pallapies, Dirk

    2006-09-28

    Child mortality has declined remarkably during the last decades. While neonatal disorders, diarrhoea, pneumonia, and malaria as well as being underweight account for most of the child deaths worldwide, children's health discussions in Europe and the USA focus on other issues such as asthma, neurodevelopmental disorders, male genital malformations, and childhood cancer. There is clear evidence of increasing rates of asthma in various countries during the last decades, although rates in some countries may now have stabilised or even decline as recent UK data indicate. Although an increase in the frequency of neurodevelopmental disorders such as autism and attention deficit disorder has frequently been discussed, the limited data in this field does not justify such a conclusion. While geographic heterogeneity regarding reproductive outcomes is apparent, global trends have not been identified. Interpretation of the available information on asthma, neurodevelopmental disorders and reproductive outcomes is hampered by inconstant diagnostic criteria over place and time and the lack of good and comprehensive population-based surveillance data, which makes it impossible to ascertain trends in actual disease frequency. Data indicate that developed countries have a gradually increasing incidence in leukaemia with a corresponding drop in the incidence of lymphoma. Increases in brain tumour frequency may be related to the development and wide application of new diagnostic capabilities, rather than a true change in the incidence of malignant disease. With a better prognosis for childhood cancer survival, secondary cancers following chemotherapy appear to be increasing. A wide range of environmental factors is thought to have an impact on children's health. These factors include nutrition (protein, vitamins, antioxidants), lifestyle and behaviour choices such as tobacco and alcohol use, parental health, socio-economic status, choice of living environment (urban versus rural, etc

  20. Electroencephalogram of Age-Dependent Epileptic Encephalopathies in Infancy and Early Childhood

    PubMed Central

    Wong-Kisiel, Lily C.; Nickels, Katherine

    2013-01-01

    Epileptic encephalopathy syndromes are disorders in which the epileptiform abnormalities are thought to contribute to a progressive cerebral dysfunction. Characteristic electroencephalogram findings have an important diagnostic value in classification of epileptic encephalopathy syndromes. In this paper, we focus on electroencephalogram findings of childhood epileptic encephalopathy syndromes and provide sample illustrations. PMID:24024028

  1. Encountering Death: Structured Activities for Death Awareness.

    ERIC Educational Resources Information Center

    Welch, Ira David; And Others

    This book is intended to be used as a supplement to standard textbooks on death and dying for college students. Chapter 1 "Encountering Death in the Self" builds the foundation for increased self-awareness for the study of death and dying. Chapter 2 "Encountering Death in the Family" provides activities which are appropriate for a wide variety of…

  2. Childhood fatalities in new Mexico: medical examiner-investigated cases, 2000-2010.

    PubMed

    Lathrop, Sarah L

    2013-05-01

    To better understand risk factors and populations at risk of childhood fatalities, a review of all records of childhood deaths (≤19 years) between 2000 and 2010 from New Mexico's statewide medical examiner was conducted. Annually, 313-383 childhood deaths were investigated (3820 total). Males and American Indians were overrepresented (62% and 20.4% of deaths, respectively). The most common manner of death was natural (44.8%), followed by accidental (31.4%), homicide (8.8%), suicide (8.8%), and undetermined (4.1%). Infants under 1 year of age accounted for 41.4% of deaths. Motor vehicle crashes were responsible for the majority of accidental deaths (69%), followed by unintentional overdoses (6.9%), and drowning (5.3%). Gunshot wounds, either intentional or unintentional, caused 10.7% of childhood deaths. Complete medico-legal investigation of childhood fatalities is needed to provide public health agencies with adequate data to evaluate and prevent childhood deaths.

  3. [Childhood tuberculosis].

    PubMed

    Hamzaoui, A

    2015-01-01

    Childhood TB is an indication of failing TB control in the community. It allows disease persistence in the population. Mortality and morbidity due to TB is high in children. Moreover, HIV co-infection and multidrug-resistant diseases are as frequent in children as in adults. Infection is more frequent in younger children. Disease risk after primary infection is greatest in infants younger than 2 years. In case of exposure, evidence of infection can be obtained using the tuberculin skin test (TST) or an interferon-gamma assay (IGRA). There is no evidence to support the use of IGRA over TST in young children. TB suspicion should be confirmed whenever possible, using new available tools, particularly in case of pulmonary and lymph node TB. Induced sputum, nasopharyngeal aspiration and fine needle aspiration biopsy provide a rapid and definitive diagnosis of mycobacterial infection in a large proportion of patients. Analysis of paediatric samples revealed higher sensitivity and specificity values of molecular techniques in comparison with the ones originated from adults. Children require higher drugs dosages than adults. Short courses of steroids are associated with TB treatment in case of respiratory distress, bronchoscopic desobstruction is proposed for severe airways involvement and antiretroviral therapy is mandatory in case of HIV infection. Post-exposure prophylaxis in children is a highly effective strategy to reduce the risk of TB disease. The optimal therapy for treatment of latent infection with a presumably multidrug-resistant Mycobacterium tuberculosis strain is currently not known.

  4. Genetics Home Reference: Woodhouse-Sakati syndrome

    MedlinePlus

    ... hypothyroidism). People with Woodhouse-Sakati syndrome also experience hair loss beginning in childhood that gradually gets worse, often resulting in the loss of all scalp hair (alopecia totalis) during adulthood. Eyelashes and eyebrows are sparse ...

  5. Childhood Brain Tumors

    MedlinePlus

    Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood ... still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches and ...

  6. What Is Childhood Leukemia?

    MedlinePlus

    ... in Children About Childhood Leukemia What Is Childhood Leukemia? Cancer starts when cells start to grow out ... start making antibodies to fight them. Types of leukemia in children Leukemia is often described as being ...

  7. Reducing Childhood Obesity

    MedlinePlus

    ... Navigation Bar Home Current Issue Past Issues Reducing Childhood Obesity Past Issues / Summer 2007 Table of Contents For ... page please turn Javascript on. The We Can! childhood obesity-prevention program involves parents, caregivers, and community leaders ...

  8. A fatal neuromuscular disease in an adult patient after poliomyelitis in early childhood: consideration of the pathology of post-polio syndrome.

    PubMed

    Kosaka, Takayuki; Kuroha, Yasuko; Tada, Mari; Hasegawa, Arika; Tani, Takashi; Matsubara, Nae; Koike, Ryoko; Toyoshima, Yasuko; Takahashi, Hitoshi

    2013-02-01

    Post-polio syndrome (PPS) characterized by new neuromuscular problems can appear many years after acute poliomyelitis in polio survivors. We report a 77-year-old man with antecedent poliomyelitis who newly developed neuromuscular disease with a clinical course of 27 years, the final 10 years of which were characterized by apparent progression, thus raising doubt as to the clinical diagnosis of amyotrophic lateral sclerosis (ALS) following PPS. Pathologically, plaque-like, old poliomyelitis lesions were found almost exclusively in the lumbosacral cord, showing complete neuronal loss and glial scars in the anterior horns. Although less severe, neuronal loss and gliosis were also evident outside the old lesions, including the intermediate zone. Moreover, symmetrical degeneration of the corticospinal tracts, as evidenced by CD68 immunostaining, was a feature of the white matter of the lower spinal cord. In the motor cortex, loss of Betz cells was also confirmed. Synaptophysin immunostaining of the lumbosacral cord also revealed decreased expression outside the old lesions, excluding the posterior horn. Interestingly, decreased expression of synaptophysin was also evident in the cervical anterior horns, where no old lesions were observed. No Bunina bodies, TDP-43 inclusions, or Golgi fragmentation were found. Neurogenic atrophy was evident in the iliopsoas and scalenus muscles, and inclusion body myositis-like changes were also observed in these muscles and the tongue. Was it possible to have diagnosed this patient as having ALS? We consider that the features in this case may have represented the pathology of long-standing and/or fatal PPS itself, and not ALS.

  9. Introduction to Childhood Studies

    ERIC Educational Resources Information Center

    Kehily, Mary Jane, Ed.

    2004-01-01

    Educationalists and social scientists are increasingly interested in childhood as a distinct social category, and Childhood Studies is now a recognized area of research and analysis. This book brings together the key themes of Childhood Studies in a broad and accessible introduction for students and practitioners working in this field.…

  10. [Chronic ataxia in childhood].

    PubMed

    Erazo Torricelli, Ricardo

    2013-01-01

    Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.

  11. Global burden of childhood pneumonia and diarrhoea.

    PubMed

    Walker, Christa L Fischer; Rudan, Igor; Liu, Li; Nair, Harish; Theodoratou, Evropi; Bhutta, Zulfiqar A; O'Brien, Katherine L; Campbell, Harry; Black, Robert E

    2013-04-20

    Diarrhoea and pneumonia are the leading infectious causes of childhood morbidity and mortality. We comprehensively reviewed the epidemiology of childhood diarrhoea and pneumonia in 2010-11 to inform the planning of integrated control programmes for both illnesses. We estimated that, in 2010, there were 1·731 billion episodes of diarrhoea (36 million of which progressed to severe episodes) and 120 million episodes of pneumonia (14 million of which progressed to severe episodes) in children younger than 5 years. We estimated that, in 2011, 700,000 episodes of diarrhoea and 1·3 million of pneumonia led to death. A high proportion of deaths occurs in the first 2 years of life in both diseases--72% for diarrhoea and 81% for pneumonia. The epidemiology of childhood diarrhoea and that of pneumonia overlap, which might be partly because of shared risk factors, such as undernutrition, suboptimum breastfeeding, and zinc deficiency. Rotavirus is the most common cause of vaccine-preventable severe diarrhoea (associated with 28% of cases), and Streptococcus pneumoniae (18·3%) of vaccine-preventable severe pneumonia. Morbidity and mortality from childhood pneumonia and diarrhoea are falling, but action is needed globally and at country level to accelerate the reduction.

  12. Aging and Death Education.

    ERIC Educational Resources Information Center

    Pinder, Margaret M.; Hayslip, Bert, Jr.

    1980-01-01

    The elderly death rate is somewhat higher than the death rate in general. Numbers of schools with gerontological curricula and frequency of death education courses are positively related to elderly death rates. The contention that elderly deaths have less social impact is not supported. (JAC)

  13. The subtle signs of Wolfram (DIDMOAD) syndrome: not all juvenile diabetes is type 1 diabetes.

    PubMed

    Boettcher, Claudia; Brosig, Burkhard; Zimmer, Klaus P; Wudy, Stefan A

    2011-01-01

    Wolfram syndrome (also known as DIDMOAD = diabetes insipidus, diabetes mellitus, optic atrophy, deafness) is an autosomal recessive disorder characterized by the association of childhood non-immune insulin-dependent diabetes mellitus (DM) with progressive bilateral optic atrophy. Additional symptoms including signs of severe neurodegeneration and psychiatric illness are likely to evolve over time resulting in premature death. We report on two siblings of Turkish origin from our diabetes clinic who were diagnosed with Wolfram syndrome after 6 years and 2 years duration of DM, respectively. Subtle symptoms such as attitude changes, growing reading difficulties in the history of children or adolescents with antibody negative and ketone negative DM should alert the treating physician and lead to re-evaluation of the diagnosis, keeping in mind that not all juvenile DM is type 1 DM.

  14. Prevention of unintentional childhood injury.

    PubMed

    Theurer, Wesley M; Bhavsar, Amit K

    2013-04-01

    Unintentional injury accounts for 40 percent of childhood deaths annually, most commonly from motor vehicle crashes. The proper use of child restraints is the most effective strategy to prevent injury or death. Motor vehicle restraint guidelines have recently been revised to an age-based system that delays the progression in type of restraint for most children. Strategies to prevent suffocation in children include using appropriate bedding, positioning babies on their backs to sleep, and removing items from the sleep and play environment that could potentially entrap or entangle the child. Fencing that isolates a swimming pool from the yard and surrounding area and "touch" adult supervision (i.e., an adult is in the water and able to reach and grab a child) have been shown to be most effective in preventing drownings. Swimming lessons are recommended for children older than four years. Poison prevention programs have been shown to improve prevention behavior among caregivers, but may not decrease poisoning incidence. Syrup of ipecac is not recommended. Smoke detector maintenance, a home escape plan, and educating children about how to respond during a fire emergency are effective strategies for preventing fire injuries or death. Fall injuries may be reduced by not using walkers for infants and toddlers or bunk beds for children six years and younger. Consistent helmet use while bicycling reduces head and brain injuries. Although direct counseling by physicians appears to improve some parental safety behaviors, its effect on reducing childhood injuries is uncertain. Community-based interventions can be effective in high-risk populations.

  15. Traumatic deaths in children: the importance of prevention.

    PubMed

    Wheatley, J; Cass, D T

    1989-01-16

    In order to determine the preventable factors in fatal accidents, a retrospective review of paediatric deaths after admission to a suburban teaching hospital was conducted. The medical records and coroners' reports for 64 consecutive cases over a 68-month period were reviewed. The main causes of death were pedestrian injuries (42% of deaths), drowning (20% of deaths) and injuries to vehicular passengers (17% of deaths) and cyclists (13% of deaths). There was a male predominance (64%). Children who were aged less than five years were at greatest risk at home, with death by drowning (46% of deaths) predominating. For children who were over five years of age, accidents on the roadway as pedestrians (58% of deaths) and pedal-cyclists (20% of deaths) were the most-common causes of death. Analysis of the accidents showed that preventive strategies were underutilized. Thirty per cent of deaths could have been avoided by the wearing of restraints in motor vehicles, the wearing of cycle-helmets and the proper use of swimming-pool barrier equipment. Adequate supervision of children who were less than 10 years of age at road crossings could have prevented a further 17% of deaths. In comparison, even the most-optimal postinjury care would have salvaged only 5% of the cases. Therefore, while the ideal organization of services after injury is a logical aim in the management of childhood trauma, if lives are to be saved, the main emphasis must be on prevention.

  16. FvSNF1, the sucrose non-fermenting protein kinase gene of Fusarium virguliforme, is required for cell-wall-degrading enzymes expression and sudden death syndrome development in soybean.

    PubMed

    Islam, Kazi T; Bond, Jason P; Fakhoury, Ahmad M

    2017-01-28

    Fusarium virguliforme is a soil-borne pathogenic fungus that causes sudden death syndrome (SDS) in soybean. Its pathogenicity is believed to require the activity of cell-wall-degrading enzymes (CWDEs). The sucrose non-fermenting protein kinase 1 gene (SNF1) is a key component of the glucose de-repression pathway in yeast, and a regulator of gene expression for CWDEs in some plant pathogenic fungi. To elucidate the functional role of the SNF1 homolog in F. virguliforme, FvSNF1 was disrupted using a split-marker strategy. Disruption of FvSNF1 in F. virguliforme abolishes galactose utilization and causes poor growth on xylose, arabinose and sucrose. However, the resulting Fvsnf1 mutant grew similar to wild-type and ectopic transformants on glucose, fructose, maltose, or pectin as the main source of carbon. The Fvsnf1 mutant displayed no expression of the gene-encoding galactose oxidase (GAO), a secretory enzyme that catalyzes oxidation of D-galactose. It also exhibited a significant reduction in the expression of several CWDE-coding genes in contrast to the wild-type strain. Greenhouse pathogenicity assays revealed that the Fvsnf1 mutant was severely impaired in its ability to cause SDS on challenged soybean plants. Microscopy and microtome studies on infected roots showed that the Fvsnf1 mutant was defective in colonizing vascular tissue of infected plants. Cross and longitudinal sections of infected roots stained with fluorescein-labeled wheat germ agglutinin and Congo red showed that the Fvsnf1 mutant failed to colonize the xylem vessels and phloem tissue at later stages of infection. Quantification of the fungal biomass in inoculated roots further confirmed a reduced colonization of roots by the Fvsnf1 mutant when compared to the wild type. These findings suggest that FvSNF1 regulates the expression of CWDEs in F. virguliforme, thus affecting the virulence of the fungus on soybean.

  17. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.

    PubMed

    Zaragoza, Michael V; Fung, Lianna; Jensen, Ember; Oh, Frances; Cung, Katherine; McCarthy, Linda A; Tran, Christine K; Hoang, Van; Hakim, Simin A; Grosberg, Anna

    2016-01-01

    The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family. The proband is a 63-year-old male with a family history of individuals (>10) with sinus node dysfunction, ventricular arrhythmia, cardiomyopathy, heart failure, and sudden death. We used exome sequencing of a single individual to identify a novel LMNA mutation and demonstrated the importance of Sanger validation and family studies when evaluating candidates. After initial single-gene studies were negative, we conducted exome sequencing for the proband which produced 9 gigabases of sequencing data. Bioinformatics analysis showed 94% of the reads mapped to the reference and identified 128,563 unique variants with 108,795 (85%) located in 16,319 genes of 19,056 target genes. We discovered multiple variants in known arrhythmia, cardiomyopathy, or ion channel associated genes that may serve as potential modifiers in disease expression. To identify candidate mutations, we focused on ~2,000 variants located in 237 genes of 283 known arrhythmia, cardiomyopathy, or ion channel associated genes. We filtered the candidates to 41 variants in 33 genes using zygosity, protein impact, database searches, and clinical association. Only 21 of 41 (51%) variants were validated by Sanger sequencing. We selected nine confirmed variants with minor allele frequencies <1% for family studies. The results identified LMNA c.357-2A>G, a novel heterozygous splice-site mutation as the primary mutation with rare or novel variants in HCN4, MYBPC3, PKP4, TMPO, TTN, DMPK and KCNJ10 as potential modifiers and a mechanism consistent with haploinsufficiency.

  18. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

    PubMed Central

    Zaragoza, Michael V.; Fung, Lianna; Jensen, Ember; Oh, Frances; Cung, Katherine; McCarthy, Linda A.; Tran, Christine K.; Hoang, Van; Hakim, Simin A.; Grosberg, Anna

    2016-01-01

    The goals are to understand the primary genetic mechanisms that cause Sick Sinus Syndrome and to identify potential modifiers that may result in intrafamilial variability within a multigenerational family. The proband is a 63-year-old male with a family history of individuals (>10) with sinus node dysfunction, ventricular arrhythmia, cardiomyopathy, heart failure, and sudden death. We used exome sequencing of a single individual to identify a novel LMNA mutation and demonstrated the importance of Sanger validation and family studies when evaluating candidates. After initial single-gene studies were negative, we conducted exome sequencing for the proband which produced 9 gigabases of sequencing data. Bioinformatics analysis showed 94% of the reads mapped to the reference and identified 128,563 unique variants with 108,795 (85%) located in 16,319 genes of 19,056 target genes. We discovered multiple variants in known arrhythmia, cardiomyopathy, or ion channel associated genes that may serve as potential modifiers in disease expression. To identify candidate mutations, we focused on ~2,000 variants located in 237 genes of 283 known arrhythmia, cardiomyopathy, or ion channel associated genes. We filtered the candidates to 41 variants in 33 genes using zygosity, protein impact, database searches, and clinical association. Only 21 of 41 (51%) variants were validated by Sanger sequencing. We selected nine confirmed variants with minor allele frequencies <1% for family studies. The results identified LMNA c.357-2A>G, a novel heterozygous splice-site mutation as the primary mutation with rare or novel variants in HCN4, MYBPC3, PKP4, TMPO, TTN, DMPK and KCNJ10 as potential modifiers and a mechanism consistent with haploinsufficiency. PMID:27182706

  19. Death: 'nothing' gives insight.

    PubMed

    Ettema, Eric J

    2013-08-01

    According to a widely accepted belief, we cannot know our own death--death means 'nothing' to us. At first sight, the meaning of 'nothing' just implies the negation or absence of 'something'. Death then simply refers to the negation or absence of life. As a consequence, however, death has no meaning of itself. This leads to an ontological paradox in which death is both acknowledged and denied: death is … nothing. In this article, I investigate whether insight into the ontological paradox of the nothingness of death can contribute to a good end-of-life. By analysing Aquinas', Heidegger's and Derrida's understanding of death as nothingness, I explore how giving meaning to death on different ontological levels connects to, and at the same time provides resistance against, the harsh reality of death. By doing so, I intend to demonstrate that insight into the nothingness of death can count as a framework for a meaningful dealing with death.

  20. 3 CFR 8851 - Proclamation 8851 of August 31, 2012. National Childhood Cancer Awareness Month, 2012

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... Childhood Cancer Awareness Month, 2012 8851 Proclamation 8851 Presidential Documents Proclamations Proclamation 8851 of August 31, 2012 Proc. 8851 National Childhood Cancer Awareness Month, 2012By the President... diagnosed with cancer—an often life-threatening illness that remains the leading cause of death by...

  1. Locked-in syndrome.

    PubMed

    Cardwell, Michael S

    2013-02-01

    Locked-in syndrome is a rare neuropsychological disorder. Its primary features are quadriplegia and paralysis of the cranial nerves except for those responsible for vertical eye movements. The differential diagnosis includes persistent vegetative state, brain death, minimally conscious states, C3 transection of the spinal cord, and conversion locked-in syndrome. Etiologies of locked-in syndrome include hemorrhagic and thrombotic events, tumors affecting the ventral pons, infectious agents, iatrogenic causes, trauma, metabolic abnormalities, and other miscellaneous causes. The clinical manifestations, differential diagnosis, neuropsychological assessment, rehabilitation, and prognosis of patients with locked-in syndrome are discussed.

  2. [Unobserved death of an infant: cot death?].

    PubMed

    van Wouwe, J P; Dandachli, T H; Huber, J

    1999-10-02

    Three children, two girls aged 8 and 12 months and one boy aged 7 weeks, were found dead unexpectedly. Autopsy revealed pneumonia in two children, following which the diagnosis of 'natural, explained death' was made; one child showed no abnormalities and the diagnosis read 'natural, unexplained death' (cot death). Autopsy may currently only be performed with parental permission or, in case of doubt about unnatural cause of death, by order of the public prosecutor. The authors propose routine performance of a protocolled autopsy by GP, pediatrician, pathologist and medical examiner in order to avoid subsequent and possibly incorrect doubt about the cause of death.

  3. Laboratory-Treated T Cells in Treating Patients With High-Risk Relapsed Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Chronic Myelogenous Leukemia Previously Treated With Donor Stem Cell Transplant

    ClinicalTrials.gov

    2017-01-05

    Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome; Adult Myelodysplastic Syndrome; Childhood Myelodysplastic Syndrome; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Recurrent Chronic Myelogenous Leukemia, BCR-ABL1 Positive; Secondary Acute Myeloid Leukemia; Therapy-Related Acute Myeloid Leukemia

  4. [Neurobiology of Tourette Syndrome].

    PubMed

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  5. The Episodic Syndromes That Maybe Associated with Migraines.

    PubMed

    Lebron, Diana; Vasconcellos, Elza

    2016-02-01

    The "childhood periodic syndromes" have been renamed "the episodic syndromes that maybe associated with migraines". These syndromes were initially considered precursors of migraines that only occurred in childhood; however recent literature suggests that the episodic syndromes can occur in adults with known migraine and does not necessarily present as a precursor. This review article discusses the recent literature regarding the episodic syndromes and potential treatments. These disorders are seen by multiple subspecialists, therefore it is important to recognize and use the same definitions, criteria and nomenclature. A collaborative and multidisciplinary approach is critical to characterize, manage and potentially improve outcomes.

  6. Expressive Education in Early Childhood.

    ERIC Educational Resources Information Center

    Mori, Kimie

    1996-01-01

    Presents a concise overview of early childhood music education in Japan. Japanese early childhood education stresses the natural development of childhood, as well as cultivation of expressive activities. Discusses teaching methods, creative activities, and educational guidelines (MJP)

  7. Grandparental Death: Through the Lens of an Asian Child

    ERIC Educational Resources Information Center

    Lai, Wing-Fu

    2012-01-01

    Bereavement has been extensively studied over the years, yet scholarly work depicting, with the first-person perspective, the experience of childhood bereavement is severely lacking. The research question I set out to answer here is: What is it like as an Asian child to experience bereavement following grandparental death? As such,…

  8. Childhood Vitiligo: Treatment Paradigms

    PubMed Central

    Kanwar, Amrinder Jit; Kumaran, M Sendhil

    2012-01-01

    Childhood vitiligo differs from the adults by showing a higher incidence in females, segmental vitiligo being more common and less frequent association with other systemic autoimmune and endocrine disorders. Childhood vitiligo is often associated with a marked psychosocial and long lasting effect on the self-esteem of the affected children and their parents, hence an adequate treatment is very essential. Treatment of vitiligo is indeed a tough challenge for the dermatologists’ more so in the background of childhood vitiligo. Although multiple therapeutic modalities are available in the therapeutic armamentarium, not all can be used in children. This brief report updates regarding various therapies available in the treatment of childhood vitiligo. PMID:23248365

  9. Marfan's Syndrome: Detection and Management.

    ERIC Educational Resources Information Center

    Cantwell, John D.

    1986-01-01

    Marfan's Syndrome, a disorder of connective tissue, has gained increased attention since the death of volleyball star Flo Hyman. This article reviews the disease and discusses methods of detection and management. (Author/MT)

  10. Signs and Symptoms of Childhood Leukemia

    MedlinePlus

    ... Diagnosis, and Types Signs and Symptoms of Childhood Leukemia Many of the symptoms of childhood leukemia can ... Child’s Doctor About Childhood Leukemia? More In Childhood Leukemia About Childhood Leukemia Causes, Risk Factors, and Prevention ...

  11. Understanding Death in Children With Epilepsy.

    PubMed

    Donner, Elizabeth J; Camfield, Peter; Brooks, Linda; Buchhalter, Jeffrey; Camfield, Carol; Loddenkemper, Tobias; Wirrell, Elaine

    2017-01-31

    Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurologic disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss.

  12. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy.

  13. Brain Death Determination.

    PubMed

    Spinello, Irene M

    2015-09-01

    In the United States, each year 1% to 2% of deaths are brain deaths. Considerable variation in the practice of determining brain death still remains, despite the publication of practice parameters in 1995 and an evidence-based guideline update in 2010. This review is intended to give bedside clinicians an overview of definition, the causes and pitfalls of misdiagnosing brain death, and a focus on the specifics of the brain death determination process.

  14. The Declaration of Sydney on human death

    PubMed Central

    Machado, C; Korein, J; Ferrer, Y; Portela, L; de la C García, M; Chinchilla, M; Machado, Y; Machado, Y; Manero, J M

    2007-01-01

    On 5 August 1968, publication of the Harvard Committee's report on the subject of “irreversible coma” established a standard for diagnosing death on neurological grounds. On the same day, the 22nd World Medical Assembly met in Sydney, Australia, and announced the Declaration of Sydney, a pronouncement on death, which is less often quoted because it was overshadowed by the impact of the Harvard Report. To put those events into present-day perspective, the authors reviewed all papers published on this subject and the World Medical Association web page and documents, and corresponded with Dr A G Romualdez, the son of Dr A Z Romualdez. There was vast neurological expertise among some of the Harvard Committee members, leading to a comprehensible and practical clinical description of the brain death syndrome and the way to diagnose it. This landmark account had a global medical and social impact on the issue of human death, which simultaneously lessened reception of the Declaration of Sydney. Nonetheless, the Declaration of Sydney faced the main conceptual and philosophical issues on human death in a bold and forthright manner. This statement differentiated the meaning of death at the cellular and tissue levels from the death of the person. This was a pioneering view on the discussion of human death, published as early as in 1968, that should be recognised by current and future generations. PMID:18055899

  15. Health and Safety: Involving Community Workers in Early Childhood Classrooms

    ERIC Educational Resources Information Center

    Wallinga, Charlotte; Coleman, Mick; Bales, Diane

    2007-01-01

    Dramatic improvements have been made in the lives of children over the last century. Even so, many health and safety challenges remain unresolved. For example, unintentional injuries claim the lives of more children each year than any other cause of death. In addition, a panel of pediatricians reported that the incidence of childhood obesity…

  16. Examining Childhood Bullying and Adolescent Suicide: Implications for School Nurses

    ERIC Educational Resources Information Center

    Cooper, Gregory D.; Clements, Paul Thomas; Holt, Karyn E.

    2012-01-01

    Adolescent suicide is a preventable tragedy yet is still the third leading cause of death in young people of age 10-24. Contrary to the idea that childhood bullying is a normal part of growing up or a rite of passage, it is now correlated with adolescent suicidality. An integrative review of the contemporary, extant literature was conducted to…

  17. Contributors to Adult Sibling Relationships and Intention to Care of Siblings of Individuals with Down Syndrome

    ERIC Educational Resources Information Center

    Cuskelly, Monica

    2016-01-01

    The contribution of childhood sibling relationships to adult sibling relationships and intention to provide care was investigated in a sample in which one member of each dyad had Down syndrome. Thirty-nine adult siblings of an adult with Down syndrome who had participated in a study of sibling relationships in childhood/adolescence provided data…

  18. Parental relationship satisfaction after the death of a child.

    PubMed

    Joronen, Katja; Kaunonen, Marja; Aho, Anna Liisa

    2016-09-01

    This study describes Finnish parents' (n = 461) parental relationship satisfaction and examines factors associated with relationship satisfaction after the death of a child in the family. This reported study is part of a broader investigation concerning parents' experiences after the death of a child. Most respondents were very (36%) or quite satisfied (49%) with their current relationship. Lower relationship satisfaction scores were reported by older respondents, people with poorer subjective health and people who had other living children. Causes of death other than stillbirth, need for marriage counselling and moderate or poor marital relationship of the respondents' own parents in childhood were also related to lower relationship satisfaction.

  19. Childhood Brain Tumor Epidemiology: A Brain Tumor Epidemiology Consortium Review

    PubMed Central

    Johnson, Kimberly J.; Cullen, Jennifer; Barnholtz-Sloan, Jill S.; Ostrom, Quinn T.; Langer, Chelsea E.; Turner, Michelle C.; McKean-Cowdin, Roberta; Fisher, James L.; Lupo, Philip J.; Partap, Sonia; Schwartzbaum, Judith A.; Scheurer, Michael E.

    2014-01-01

    Childhood brain tumors are the most common pediatric solid tumor and include several histological subtypes. Although progress has been made in improving survival rates for some subtypes, understanding of risk factors for childhood brain tumors remains limited to a few genetic syndromes and ionizing radiation to the head and neck. In this report, we review descriptive and analytical epidemiology childhood brain tumor studies from the past decade and highlight priority areas for future epidemiology investigations and methodological work that is needed to advance our understanding of childhood brain tumor causes. Specifically, we summarize the results of a review of studies published since 2004 that have analyzed incidence and survival in different international regions and that have examined potential genetic, immune system, developmental and birth characteristics, and environmental risk factors. PMID:25192704

  20. Developmental Sequences in Children's Understanding of Death with Implications for Counselors.

    ERIC Educational Resources Information Center

    Matter, Darryl E.; Matter, Roxana Marie

    1982-01-01

    Proposes children develop an understanding about death in an orderly sequence progressing from total unawareness in early childhood to the point of logical consideration in terms of cause and effect. Discusses implications for parents, teachers, and counselors for helping children deal with death. (RC)

  1. Whither brain death?

    PubMed

    Bernat, James L

    2014-01-01

    The publicity surrounding the recent McMath and Muñoz cases has rekindled public interest in brain death: the familiar term for human death determination by showing the irreversible cessation of clinical brain functions. The concept of brain death was developed decades ago to permit withdrawal of therapy in hopeless cases and to permit organ donation. It has become widely established medical practice, and laws permit it in all U.S. jurisdictions. Brain death has a biophilosophical justification as a standard for determining human death but remains poorly understood by the public and by health professionals. The current controversies over brain death are largely restricted to the academy, but some practitioners express ambivalence over whether brain death is equivalent to human death. Brain death remains an accepted and sound concept, but more work is necessary to establish its biophilosophical justification and to educate health professionals and the public.

  2. Childhood injuries in the United States. Mortality, Morbidity, and cost.

    PubMed

    Guyer, B; Ellers, B

    1990-06-01

    National estimates of the mortality, morbidity, and cost of childhood injuries are presented by specific causes. Motor vehicle-related injuries, homicide, and suicide are the leading causes of childhood injury deaths. Falls and sports-related injuries are the leading causes of hospitalizations and emergency department visits. We estimate that unintentional childhood injuries cost the nation $7.5 billion in 1982. The highest direct costs per year for unintentional injuries are attributable to falls, sports, and motor vehicle occupant injuries, while the highest indirect costs are related to motor vehicle occupant injuries, pedestrian injuries, and drowning. Injury accounts for 78% of the total fatalities among late adolescents (age 15 to 19 years), the pediatric age group at highest risk for injury mortality. A stronger federal and state commitment is needed to prevent childhood injury.

  3. Deafness in Childhood.

    ERIC Educational Resources Information Center

    McConnell, Freeman, Ed.; Ward, Paul H., Ed.

    Twenty papers from the National Symposium on Deafness in Childhood held in May 1966 cover the fields of otology, audiology, and education of the deaf. An introductory lecture traces the history of deafness in children. The section on diagnosis discusses the testing of hearing in infancy and early childhood, pediatric evaluation, the otologist's…

  4. Early Childhood Centers

    ERIC Educational Resources Information Center

    Butin, Dan; Woolums, Jennifer

    2009-01-01

    Early childhood centers have become a common and necessary part of millions of Americans' lives. More women in the workforce, longer workweeks, and educational research supporting the importance of early education have all contributed to the rise of early childhood centers throughout the United States. Today, more than 30 percent of children under…

  5. Early Childhood Education.

    ERIC Educational Resources Information Center

    Elkind, David

    In five sections, this paper explores dimensions of early childhood education: schooling generally construed as nonparental instruction in knowledge, values, and skills. Section 1 looks at some of the factors which have contributed to the rapid growth of early childhood education in modern times. Section 2 briefly highlights the contributions of…

  6. Reframing Early Childhood Leadership

    ERIC Educational Resources Information Center

    Stamopoulos, Elizabeth

    2012-01-01

    Rapid changes in Australian education have intensified the role of early childhood leaders and led to unprecedented challenges. The Australian Curriculum (ACARA, 2011), mandated Australian "National Quality Framework" (NQF) for Early Childhood Education & Care (DEEWR, 2010b) and the "National Early Years Learning Framework"…

  7. Historian's Discovery of Childhood

    ERIC Educational Resources Information Center

    Frijhoff, Willem

    2012-01-01

    The "discovery of childhood" is a tricky notion because childhood is as much a fact of a biological and psychological nature as a cultural notion that through the centuries has been the object of changing perceptions, definitions, and images. Children barely speak in history; virtually everything we know about them is mediated by adults. Then how…

  8. The Disappearance of Childhood.

    ERIC Educational Resources Information Center

    Postman, Neil

    1985-01-01

    Describes the historical development of the conception and social manifestation of modern childhood, beginning in the Renaissance and spurred by the invention of the printing press and the need for literacy. Proposes that social pressures and especially the electronic media are leading to the end of childhood as a social institution. (CB)

  9. Childhood Interstitial Lung Disease

    MedlinePlus

    ... from the NHLBI on Twitter. What Is Childhood Interstitial Lung Disease? Childhood interstitial (in-ter-STISH-al) lung disease, or chILD, ... with similar symptoms—it's not a precise diagnosis. Interstitial lung disease (ILD) also occurs in adults. However, ...

  10. Childhood Obesity. ERIC Digest.

    ERIC Educational Resources Information Center

    Summerfield, Liane M.

    In this discussion of childhood obesity, the medical and psychological problems associated with the condition are noted. Childhood obesity most likely results from an interaction of nutritional, psychological, familial, and physiological factors. Three factors--the family, low-energy expenditure, and heredity--are briefly examined. Early…

  11. Childhood Roots of Schizophrenia

    ERIC Educational Resources Information Center

    Watt, Norman F.; Lubensky, Amy W.

    1976-01-01

    Earlier project reports compared childhood social behavior of nonmigratory schizophrenics and normal classmates by analyzing teachers' comments in school records. This article expands the sample to include migratory schizophrenics and analyzes childhood intellectual functioning. Behavioral differences indicated emotional immaturity and social…

  12. Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

    PubMed

    Segal, Nancy L

    2016-04-01

    The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO.

  13. Early neonatal death: A challenge worldwide.

    PubMed

    Lehtonen, Liisa; Gimeno, Ana; Parra-Llorca, Anna; Vento, Máximo

    2017-02-23

    Early neonatal death (ENND), defined as the death of a newborn between zero and seven days after birth, represents 73% of all postnatal deaths worldwide. Despite a 50% reduction in childhood mortality, reduction of ENND has significantly lagged behind other Millennium Developmental Goal achievements and is a growing contributor to overall mortality in children aged <5 years. The etiology of ENND is closely related to the level of a country's industrialization. Hence, prematurity and congenital anomalies are the leading causes in high-income countries. Furthermore, sudden unexpected early neonatal deaths (SUEND) and collapse have only recently been identified as relevant and often preventable causes of death. Concomitantly, perinatal-related events such as asphyxia and infections are extremely relevant in Africa, South East Asia, and Latin America and, together with prematurity, are the principal contributors to ENND. In high-income countries, according to current research evidence, survival may be improved by applying antenatal and perinatal therapies and immediate newborn resuscitation, as well as by centralizing at-risk deliveries to centers with appropriate expertise available around the clock. In addition, resources should be allocated to the close surveillance of newborn infants, especially during the first hours of life. Many of the conditions leading to ENND in low-income countries are preventable with relatively easy and cost-effective interventions such as contraception, vaccination of pregnant women, hygienic delivery at a hospital, training health care workers in resuscitation practices, simplified algorithms that allow for early detection of perinatal infections, and early initiation of breastfeeding and skin-to-skin care. The future is promising. As initiatives undertaken in previous decades have led to substantial reduction in childhood mortality, it is expected that new initiatives targeting the perinatal/neonatal periods are bound to reduce ENND and

  14. Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers

    PubMed Central

    Holm, Ingrid A.; Poduri, Annapurna; Crandall, Laura; Haas, Elisabeth; Grafe, Marjorie R.; Kinney, Hannah C.; Krous, Henry F.

    2014-01-01

    Sudden unexplained death in toddlers has been associated with febrile seizures, family history of febrile seizures, and hippocampal anomalies. We investigated the mode of inheritance for febrile seizures in these families. A three-generation pedigree was obtained from families enrolled in the San Diego Sudden Unexplained Death in Childhood Research Project, involving toddlers with sudden unexplained death, febrile seizures, and family history of febrile seizures. In our six cases, death was unwitnessed and related to sleep. The interval from last witnessed febrile seizure to death ranged from 3 weeks to 6 months. Hippocampal abnormalities were identified in one of three cases with available autopsy sections. Autosomal dominant inheritance of febrile seizures was observed in three families. A fourth demonstrated autosomal dominant inheritance with incomplete penetrance or variable expressivity. In two families, the maternal and paternal sides manifested febrile seizures. In this series, the major pattern of inheritance in toddlers with sudden unexplained death and febrile seizures was autosomal dominant. Future studies should develop markers (including genetic) to identify which patients with febrile seizures are at risk for sudden unexplained death in childhood, and to provide guidance for families and physicians. PMID:22490769

  15. Mortality in Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Einfeld, Stewart L.; Kavanagh, Sophie J.; Smith, Arabella; Evans, Elizabeth J.; Tonge, Bruce J.; Taffe, John

    2006-01-01

    Persons with Prader-Willi syndrome have been known to have a high mortality rate. However, intellectual disability, which usually accompanies Prader-Willi syndrome, is also associated with a higher mortality rate than in the general population. In this study, the death rates in a longitudinal cohort of people with Prader-Willi syndrome are…

  16. [Three cases of Hutchinson-Gilford progeria syndrome].

    PubMed

    Doubaj, Y; Lamzouri, A; Elalaoui, S-C; Laarabi, F-Z; Sefiani, A

    2011-02-01

    Progeria, or Hutchinson-Gilford syndrome, is a rare genetic disease, characterized by several clinical features that develop in childhood, in particular, an accelerated aging aspect. Its incidence is 1-4 per 8 million newborns. Children with progeria syndrome usually appear normal at birth and in early infancy. Profound failure to thrive occurs during the 1st year. Characteristic facies, partial alopecia progressing to total alopecia, loss of subcutaneous fat, stiffness of joints, bone changes, and abnormal tightness of the skin over the abdomen and upper thighs usually become apparent during the 2nd to 3rd years. Motor and mental development is normal. Patients develop severe atherosclerosis. Death occurs as a result of complications of cardiac or cerebrovascular disease (heart attack or stroke) generally between ages 6 and 20 years. The diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) is based on recognition of common clinical features and the detection of the recurrent p.Gly608Gly mutation in exon 11 of the LMNA gene, which is present in almost all individuals with HGPS. We present here 3 patients aged 5, 11, and 12 years referred to genetic consultation for dysmorphic facies and failure to thrive. After careful clinical examination and paraclinical assessment, the diagnosis of progeria syndrome was raised. We performed molecular analysis for the 3 patients by searching for the recurrent mutation c.1824C>T (p.Gly608Gly) of the LMNA gene, which was found only in 1 patient. We discuss the geneticist's role in the diagnosis of rare dysmorphic syndromes and their genetic counseling. We also analyze the clinical spectrum of HGPS by comparing the 3 patients.

  17. Self Concept in People with Williams Syndrome and Prader-Willi Syndrome

    ERIC Educational Resources Information Center

    Plesa-Skwerer, Daniela; Sullivan, Kate; Joffre, Kristen; Tager-Flusberg, Helen

    2004-01-01

    This study explored self concepts in matched groups of adolescents and adults with Williams syndrome (WS) and Prader-Willi syndrome (PWS), using Damon and Hart's [Self-understanding in Childhood and Adolescence, Cambridge University Press, New York, 1988] semi-structured interview. The main findings were that the WS participants were more…

  18. Obesity in childhood and adolescence, genetic factors.

    PubMed

    Memedi, Rexhep; Tasic, Velibor; Nikolic, Erieta; Jancevska, Aleksandra; Gucev, Zoran

    2013-01-01

    Obesity and overweight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. The etiology is complex, but most often idiopathic. Hormonal, syndromic and medication-induced obesity are well investigated. Genetic causes are increasingly described. Novel technologies such as whole exome sequencing identify ever more candidate genes influencing or causing obesity. All insights into the complex problem of obesity in a team approach to treatment: diet, psychology, medications and surgery. We briefly review epidemiology, etiology, consequences and treatment approaches in childhood and adolescent obesity, with special emphasis on emerging knowledge of its genetics.

  19. Benign recurrent VI nerve palsy in childhood.

    PubMed

    Bixenman, W W; von Noorden, G K

    1981-01-01

    The case of a child with six documented episodes of benign recurrent unilateral VI nerve palsy between the ages of 2 1/2 months and 3 years is presented. Despite the recognized self-limiting course of this disorder, its possible evolution into a comitant esotropia makes close follow-up mandatory. The practical aspects of management including maintenance occlusion therapy are stressed as well as the need for prompt surgical intervention once the acquired stabismus has become stabilized. The etiology of benign VI nerve palsy of childhood may have the same immunological basis as other cases of para-infectious neuropathy. This isolated postinfective cranial mononeuropathy easily blends into the continuum of neurological involvement seen with the Landry-Guillian-Barre syndrome. With recovery from the initial episode, the abducens nerve may have become predisposed to recurrent inflammatory episodes and recurrent loss of function. Most often these recurrences are triggered by febrile illnesses of childhood.

  20. Are Death Anxiety and Death Depression Distinct Entities?

    ERIC Educational Resources Information Center

    Alvarado, Katherine A.; And Others

    1993-01-01

    Administered Death Anxiety Scale and Death Depression Scale to 200 individuals. Two scales correlated 0.55. Factor analysis of combined 32 items revealed factors: "death anxiety" having highest factor loadings with Death Anxiety Scale, "death depression" having highest factor loadings with Death Depression Scale, "death of…