Science.gov

Sample records for death syndrome childhood

  1. Childhood Deaths from Physical Abuse.

    ERIC Educational Resources Information Center

    Kasim, Mohd. Sham; and Others

    1995-01-01

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

  2. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their ...

  3. Sudden Infant Death Syndrome

    MedlinePlus

    Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call ... boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS. Although health ...

  4. Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) is an important disease of soybean in North and South America. SDS first occurred in South America in the early 1990s. In the U.S.A., SDS was first detected in AK in 1971. Now SDS occurs in most soybean production areas of the U.S. The SDS pathogen is a soil-borne fungu...

  5. 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…

  6. Sudden Infant Death Syndrome (SIDS)

    MedlinePlus

    ... Information Clinical Trials Resources and Publications Sudden Infant Death Syndrome (SIDS): Condition Information Skip sharing on social ... Share this: Page Content SIDS is the sudden death of an infant younger than 1 year of ...

  7. Childhood deaths from physical abuse.

    PubMed

    Kasim, M S; Cheah, I; Shafie, H M

    1995-07-01

    This paper gives a detailed account of 30 cases of childhood deaths caused by physical abuse, detected by the Suspected Child Abuse and Neglect (SCAN) team, General Hospital, Kuala Lumpur. They consisted of 12 Malays, 6 Chinese, 9 Indian, and 1 Indonesian child. Three cases could not be ascertained as to their ethnic origin. There were 13 male and 17 female children. The average age of the abused children was 2 years 5 months. The most frequent causes of death were intracranial hemorrhage and intraabdominal trauma. Of the 17 cases of intracranial hemorrhage, only four had X-ray evidence of skull fracture. This suggests the possibility of whiplash injuries with/without the abuser suspecting that he/she had injured the child. Of the 22 abusers who could be identified, there was no sex differentiation. Fathers formed the largest group of perpetrators, followed by mothers and childminders. Fifteen of the natural parents of the abused children were married, four were divorced and four were never married. Five of the abusers had aggressive personalities and three were drug addicts. Only one abuser was found to be an alcoholic even though a few were also under suspicion. For most cases, trigger factors could not be identified. PMID:7583742

  8. 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. PMID:26034855

  9. Sudden infant death syndrome

    PubMed Central

    Hunt, Carl E.; Hauck, Fern R.

    2006-01-01

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

  10. 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 ...

  11. Sudden Unexpected Death in Fetal Life Through Early Childhood.

    PubMed

    Goldstein, Richard D; Kinney, Hannah C; Willinger, Marian

    2016-06-01

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

  12. [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…

  13. Sudden Arrhythmia Death Syndromes (SADS) Foundation

    MedlinePlus

    ... all proceeds benefiting the SADS Foundation (Sudden Arrhythmia Death Syndrome). Each year 4,000 young Americans die ... Investigator Awardees 5/19/2016 The Sudden Arrhythmia Death Syndromes (SADS) Foundation announces the winners for the ...

  14. Sudden Infant Death Syndrome: Facts for Caregivers.

    ERIC Educational Resources Information Center

    Texas Child Care, 2000

    2000-01-01

    Presents risk factors and prevention measures related to Sudden Infant Death Syndrome. Offers infant sleep recommendations and five discussion questions to test knowledge of Sudden Infant Death Syndrome. (DLH)

  15. [Frey syndrome in childhood].

    PubMed

    Clarós, P; González-Enseñat, M A; Arimany, J; Vincente, M A; Clarós, A

    1993-01-01

    Frey's syndrome is distinguished by the appearing of erythema, sensation of hotness, sometimes pain, and transpiration discharge in the preauricular and temporal area when ingestion stars. We present an eleven month old child with this pathology and we review the etiology and clinic manifestations of this syndrome. PMID:8129975

  16. Sweet Syndrome in childhood.

    PubMed

    Santos, Talita Batalha Pires dos; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; Cerqueira, Ana Maria Mosca de

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  17. Sweet Syndrome in childhood*

    PubMed Central

    dos Santos, Talita Batalha Pires; Sales, Barbara Cristina Gouveia; Sigres, Marianne; Rosman, Fernando; de Cerqueira, Ana Maria Mosca

    2015-01-01

    Sweet syndrome or acute febrile neutrophilic dermatosis is a recurrent and rare skin disease caused by the release of cytokines, with diverse possible etiologic causes. It presents clinically with polymorphic skin lesions, fever, arthralgia, and peripheral leukocytosis. In general, it is associated with infections, malignancy and drugs. It usually regresses spontaneously and treatment is primarily to control the basic disease. The authors report the case of a child of 1 year and 11 months who developed Sweet syndrome. PMID:26375229

  18. [Autoinflammatory syndromes in childhood].

    PubMed

    Horneff, G

    2015-08-01

    Systemic autoinflammatory diseases are a group of hereditary and non-hereditary diseases of the innate immune system, characterized by inflammation with no apparent cause, recurrence at irregular intervals and manifestation on the skin, mucous membranes, joints, bone, gastrointestinal tract, blood vessels and the central nervous system (CNS). Amyloidosis and other possibly severe long-term complications are important. Advances in genetics and molecular biology have improved understanding of the pathogenesis of these diseases, including familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndrome and improved others. The vast majority of these diseases are based on activation of the interleukin-1 (IL-1) pathway, so that inhibition of IL-1 provides a therapeutic option. Other syndromes are characterized by a granulomatous inflammation. Newer autoinflammatory diseases, such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) and stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) are, however, driven by interferons. PMID:26238708

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

    ERIC Educational Resources Information Center

    Bluglass, Kerry

    1981-01-01

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

  20. Behavior of chickens prior to death from sudden death syndrome.

    PubMed

    Newberry, R C; Gardiner, E E; Hunt, J R

    1987-09-01

    A study was made to determine if chickens dying from sudden death syndrome (SDS) showed any unusual behavioral characteristics during the final 12 h preceding death. Continuous video recordings were made of floor pens of 50 to 120 individually marked male broiler chickens between 3 and 10 wk of age. Behavioral data were obtained from video tapes played back following death of chickens from SDS. Analysis of the video tapes revealed no significant differences between 10 SDS chickens and their matched controls in the frequencies or proportions of time spent in each of 19 different behavioral activities. All SDS chickens exhibited a sudden attack prior to death lasting an average of 53 s and characterized by loss of balance, violent flapping, and strong muscular contractions. There was no evidence that death was preceded by a particular environmental or behavioral event. It was concluded that there were no consistent behavioral symptoms which could be used to identify SDS chickens prior to death. PMID:3684869

  1. 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…

  2. 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

  3. The CAST (Childhood Asperger Syndrome Test)

    ERIC Educational Resources Information Center

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

    2005-01-01

    The Childhood Asperger Syndrome Test (CAST) is a parental questionnaire to screen for autism spectrum conditions. In this validation study, the CAST was distributed to 1925 children aged 5-11 in mainstream Cambridgeshire schools. A sample of participants received a full diagnostic assessment, conducted blind to screen status. The sensitivity of…

  4. 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)

  5. [Metabolic syndrome in childhood and adolescence].

    PubMed

    Barkai, László; Paragh, György

    2006-02-12

    Metabolic syndrome has an outstanding impact on public health due to its increasing prevalence and poor prognosis. The development of insulin resistance, as a consequence of obesity, can be demonstrated even in childhood which has a pivotal role in the pathomechanism of the syndrome. Besides obesity, low birth weight, increased gain in body mass in early childhood, decreased pubertal insulin sensitivity and clinical markers of insulin resistance (acanthosis nigricans, polycystic ovarian syndrome, premature adrenarche) confer risk of metabolic syndrome. Currently, there are no consistent and consensus based diagnostic criteria of metabolic syndrome in children and adolescents. The most recent definition of the International Diabetes Federation [central obesity plus any two of four factors (raised triglyceride, reduced high-density lipoprotein-cholesterol, raised blood pressure and raised fasting plasma glucose)] is not approved for children and epidemiology data are not yet available. Applying the modified version of the most commonly used Adult Treatment Panel III diagnostic system for children and adolescents, the prevalence is given as 4.2% in the literature. As the components of the syndrome, frequency were as follows: 9.8-17.9% for abdominal obesity, 21.0-23.4% for elevated triglyceride, 18.3-23.3% for reduced high-density lipoprotein-cholesterol, 4.9-7.1% for elevated blood pressure and 0.8-1.7% for impaired fasting glucose. High frequency of morphological and functional disturbances of the vascular and endothelial systems seen frequently among children with signs of metabolic syndrome suggests early cardiovascular events and underlines the clinical significance of this entity. The most effective tool for prevention of metabolic syndrome is to avoid the development of childhood obesity. In case of established disease, the effective treatment should address the different components of the syndrome. The authors emphasize the need of elaboration of consensus

  6. Alcohol Use and Sudden Infant Death Syndrome

    ERIC Educational Resources Information Center

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

    2004-01-01

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

  7. Management of childhood onset nephrotic syndrome.

    PubMed

    Gipson, Debbie S; Massengill, Susan F; Yao, Lynne; Nagaraj, Shashi; Smoyer, William E; Mahan, John D; Wigfall, Delbert; Miles, Paul; Powell, Leslie; Lin, Jen-Jar; Trachtman, Howard; Greenbaum, Larry A

    2009-08-01

    The therapeutic approach to childhood nephrotic syndrome is based on a series of studies that began with an international collaborative effort sponsored by the International Study of Kidney Disease in Children in 1967. The characteristics of children presenting with nephrotic syndrome have changed over recent decades with greater frequency of the challenging condition focal segmental glomerulosclerosis and a greater prevalence of obesity and diabetes mellitus, which may be resistant to glucocorticoids in the former and exacerbated by long-term glucocorticoid therapy in the latter 2 conditions. The Children's Nephrotic Syndrome Consensus Conference was formed to systematically review the published literature and generate a children's primary nephrotic syndrome guideline for use in educational, therapeutic, and research venues. PMID:19651590

  8. Accidental childhood death and the role of the pathologist.

    PubMed

    Byard, R W

    2000-01-01

    The following study provides an overview of accidental childhood death. This study is based on a review of 369 cases of fatal childhood accidents taken from the records of the Department of Histopathology, Women's and Children's Hospital, Adelaide, Australia, over a 34-year period from 1963 to 1996. Data provide information on deaths due to motor vehicle accidents, drownings, accidental asphyxia, burns, poisonings, electrocution, and miscellaneous trauma. In addition, certain categories have undergone further examination, including asphyxial deaths due to unsafe sleeping environments and unsafe eating practices, drowning deaths, and deaths on farms, following identification of significant child safety problems in these areas as part of the "Keeping Your Baby and Child Safe" program. Previously unrecognized dangers to children detected through this program include mesh-sided cots, V-shaped pillows, and certain types of stroller-prams. The production of information pamphlets and packages for parents and the recall of certain dangerous products following recommendations made by pathologists demonstrate that pediatric and forensic pathologists have an important role to play in preventive medicine issues and in formulating public health strategies. PMID:10890925

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

    PubMed

    Okoye, Cordelia N; Okoye, Matthias I

    2011-11-01

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

  10. Ethnic Differences in Childhood Nephrotic Syndrome

    PubMed Central

    Chanchlani, Rahul; Parekh, Rulan S.

    2016-01-01

    Nephrotic syndrome is a common glomerular disease in children with significant variability in both incidence and steroid responsiveness among various ethnic groups. The average incidence of nephrotic syndrome is 2–16.9 per 100,000 children worldwide. Understanding the variability by ethnicity may point to potential factors leading to nephrotic syndrome, which remains elusive, and may highlight factors accounting for differences in medication response. The emerging role of genetic factors associated with steroid responsive and steroid-resistant forms of nephrotic syndrome within an ethnic group can provide insight into potential biological mechanisms leading to disease. For example, among African-Americans, the risk variants in APOL1 are associated with a more than 10-fold increase in risk of focal segmental glomerulosclerosis and high-risk carriers have a twofold greater risk of progression to end-stage renal disease. Ongoing collaborative studies should consider capturing data on self-reported ethnicity to understand differences in incidence and outcomes. In the future, the availability of whole-genome data will provide an excellent opportunity for new clinical and translational research in childhood nephrotic syndrome and lead to a better understanding of the disease. PMID:27148508

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

    MedlinePlus

    ... organizations offer support: CJ Foundation for SIDS First Candle Sudden Unexplained Death In Childhood Foundation (SUDC) The ... and Caregivers Healthy Children Safe to Sleep First Candle CJ Foundation for SIDS Cribs for Kids Safe ...

  12. 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

  13. Endotoxemia in sudden infant death syndrome.

    PubMed

    Platt, M S; Elin, R J; Hosseini, J M; Smialek, J E

    1994-09-01

    Endotoxemia has been proposed as a significant cause of Sudden Infant Death Syndrome (SIDS). We examined postmortem sera from left and right heart samples of 21 SIDS cases (1989 definition) and 23 controls. The controls were < 1 year of age and had died suddenly and unexpectedly of infection, abuse, suffocation, blunt injury, or fire and smoke inhalation. Endotoxin was measured without knowledge of the clinical status by using a kinetic modification of the chromogenic limulus amoebocyte lysate assay. The SIDS cases had insignificant concentrations of endotoxin in serum, whereas some of the controls who experienced blunt injury, abuse, or severe infection exhibited moderately elevated concentrations. Postmortem interval and postmortem blood culture results did not materially affect endotoxin concentrations. Thus, we conclude that endotoxemia is not a substantial pathophysiologic event in SIDS. PMID:7825560

  14. 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…

  15. Sudden Infant Death Syndrome and Residential Altitude

    PubMed Central

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

    2015-01-01

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

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

    ERIC Educational Resources Information Center

    Ross, Colin A.

    2005-01-01

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

  17. 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…

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

    ERIC Educational Resources Information Center

    Applied Science Associates, Inc., Reston, VA.

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

  19. 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…

  20. Diaphragm strength in near-miss sudden infant death syndrome.

    PubMed

    Scott, C B; Nickerson, B G; Sargent, C W; Dennies, P C; Platzker, A C; Keens, T G

    1982-06-01

    Diaphragm muscle strength was measured as maximal transdiaphragmatic pressure during airway occlusion in ten near-miss sudden infant death syndrome infants aged 4.1 +/- 0.6 (SE) months post-term, range 2 to 7 months, and ten control infants aged 4.5 +/- 0.8 months post-term, range 0.8 to 8 months. In the near-miss sudden infant death syndrome group, the mean maximal transdiaphragmatic pressure was 106 +/- 6 cm H2O, range 78 to 132 cm H2O, compared with a mean maximal transdiaphragmatic pressure 86 +/- 4 cm H2O, range 69 to 106 cm H2O, in the control group. Diaphragm strength is normal or increased in near-miss sudden infant death syndrome infants. PMID:7079044

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

    ERIC Educational Resources Information Center

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

    2006-01-01

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

  2. 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. PMID:26963629

  3. Causes of death in 2877 patients with myelodysplastic syndromes.

    PubMed

    Nachtkamp, Kathrin; Stark, Romina; Strupp, Corinna; Kündgen, Andrea; Giagounidis, Aristoteles; Aul, Carlo; Hildebrandt, Barbara; Haas, Rainer; Gattermann, Norbert; Germing, Ulrich

    2016-05-01

    Patients with myelodysplastic syndromes face a poor prognosis. The exact causes of death have not been described properly in the past. We performed a retrospective analysis of causes of death using data of 3792 patients in the Düsseldorf registry who have been followed up for a median time of 21 months. Medical files as well as death certificates were screened and primary care physicians were contacted. Death after AML evolution, infection, and bleeding was considered to be clearly disease-related. Further categories of causes of death were heart failure, other possibly disease-related reasons, such as hemochromatosis, disease-independent reasons as well as cases with unclear causes of death. Median age at the time of diagnosis was 71 years. At the time of analysis, 2877 patients (75.9 %) had deceased. In 1212 cases (42.1 %), the exact cause of death could not be ascertained. From 1665 patients with a clearly documented cause of death, 1388 patients (83.4 %) succumbed directly disease-related (AML (46.6 %), infection (27.0 %), bleeding (9.8 %)), whereas 277 patients (16.6 %) died for reasons not directly related with myelodysplastic syndromes (MDS), including 132 patients with cardiac failure, 77 non-disease-related reasons, 23 patients with solid tumors, and 45 patients with possibly disease-related causes like hemochromatosis. Correlation with IPSS, IPSS-R, and WPSS categories showed a proportional increase of disease-related causes of death with increasing IPSS/IPSS-R/WPSS risk category. Likewise, therapy-related MDS were associated with a higher percentage of disease-related causes of death than primary MDS. This reflects the increasing influence of the underlying disease on the cause of death with increasing aggressiveness of the disease. PMID:27025507

  4. 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

  5. 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,…

  6. The Development of the Concept of Death in Childhood: A Review of the Literature.

    ERIC Educational Resources Information Center

    Stambrook, Michael; Parker, Kevin C. H.

    1987-01-01

    A critical analysis of the current knowlege concerning the development of the concept of death in childhood is the purpose of this paper. Theoretical models and methodological limitations of the literature are addressed. Many factors have been implicated as contributing to the development of the concept of death. (Author/BN)

  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. Research advances and management of soybean sudden death syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium virguliforme causes soybean sudden death syndrome (SDS) in the United States. The disease was first observed in Arkansas in 1971, and since has been reported in most soybean-producing states, with a general movement from the southern to the northern states. In addition to F. virguliforme, ...

  9. 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…

  10. Pokkuri Death Syndrome; sudden cardiac death cases without coronary atherosclerosis in South Asian young males.

    PubMed

    Nakajima, Katsuyuki; Takeichi, Sanae; Nakajima, Yasuhiro; Fujita, Masaki Q

    2011-04-15

    Sudden death is one of the major concerns in forensic medicine. Especially when the deceased is a young subject without significant history, the case will be of major interest to the authorities. Sudden unexplained cardiac death has been known as "Pokkuri Death Syndrome" (PDS) in Japan, "Lai Tai" in Thailand, "Bangungut" in the Philippines, "Dream Disease" in Hawaii, and "Sudden Unexpected Nocturnal Death Syndrome" among South Asian immigrants in the USA. However, the clinical and pathological features of these sudden death cases, especially the characteristics of no coronary atherosclerosis, are surprisingly similar and mainly occur among Southeast Asian young males during sleep in the midnight. In this manuscript, we have reviewed the pathological characteristics and the possible mechanism of death in PDS cases, which were associated with significantly elevated remnant lipoproteins in plasma as revealed from our studies during the past 15 years in Japan. Although elevated plasma remnant lipoproteins have been known to be strongly atherogenic, coronary atherosclerosis was not observed in PDS cases. PDS cases were shown to be an interesting cardiovascular disease death discovered in forensic medicine research, which may suggest the difference between the occurrence of cardiovascular events and the severity of coronary atherosclerosis as separate factors. These observations in PDS cases suggest the possibility that the intervention could be more targeted to suppress the cardiovascular events rather than to slow down the progression of atherosclerosis, which is now most extensively targeted for the therapy of cardiovascular disease in Western countries. PMID:21084168

  11. 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…

  12. 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. PMID:26883355

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

    PubMed Central

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

    2011-01-01

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

  14. 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

  15. Natural history of Wolff-Parkinson-White syndrome diagnosed in childhood.

    PubMed

    Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav

    2013-10-01

    Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. PMID:23827401

  16. Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death

    PubMed Central

    Behr, E R; Casey, A; Sheppard, M; Wright, M; Bowker, T J; Davies, M J; McKenna, W J; Wood, D A

    2007-01-01

    Objective To describe the characteristics of sudden arrhythmic death syndrome (SADS) and compare its incidence with official national mortality statistics for unascertained deaths. Design and setting Sudden unexplained deaths were prospectively surveyed through 117 coroners' jurisdictions in England. Consecutive cases meeting the following criteria were included: white Caucasian, aged 4–64 years, no history of cardiac disease, last seen alive within 12 h of death, normal coroner's autopsy, cardiac pathologist's confirmation of a normal heart and negative toxicology. Main outcome measures The estimated mortality from SADS was calculated and the official mortality statistics for unascertained causes of deaths in 4–64‐year‐olds was identified for the same time period. Results 115 coroner's cases were reported and 56 (49%) SADS victims were identified: mean age 32 years, range 7–64 years and 35 (63%) male. 7 of 39 cases (18%) had a family history of other premature sudden deaths (<45). The estimated mortality from SADS was 0.16/100 000 per annum (95% CI 0.12 to 0.21), compared with an official mortality of 0.10/100 000 per annum for International Classification of Diseases 798.1 (sudden death, cause unknown—instantaneous death) or 1.34/100 000 per annum for unascertained causes of death. Conclusions Deaths from SADS occur predominantly in young males. When compared with official mortality, the incidence of SADS may be up to eight times higher than estimated: more than 500 potential SADS cases per annum in England. Families with SADS carry genetic cardiac disease, placing them at risk of further sudden deaths. SADS should therefore be a certifiable cause of death prompting specialised cardiological evaluation of families. PMID:17237131

  17. Wolff-Parkinson-White syndrome and sudden cardiac death.

    PubMed

    Prystowsky, E N; Fananapazir, L; Packer, D L; Thompson, K A; German, L D

    1987-01-01

    Every year, individuals with no history of heart disease succumb to sudden cardiac death (SCD). Pathologic examination of the hearts usually reveals various forms of heart disease as hypertrophic cardiomyopathy or coronary artery disease. In other cases, however, there is no obvious structural heart disease, and it is possible that some of these individuals died because of a cardiac arrhythmia involving an accessory pathway. If this were the case, the most likely scenario would be onset of atrioventricular reciprocating tachycardia (AVRT), degeneration of the AVRT into atrial fibrillation with a rapid ventricular response over the accessory pathway, and subsequent death caused by the development of ventricular fibrillation. Although these events have been documented, albeit rarely, during intracardiac electrophysiologic studies, in reality very little is known about the natural history of asymptomatic and untreated patients with Wolff-Parkinson-White (WPW) syndrome. In fact, SCD in a previously asymptomatic patient with WPW syndrome is probably relatively rare. Whether asymptomatic WPW patients should undergo electrophysiologic or pharmacologic testing to determine their 'potential' to develop serious cardiac arrhythmias is controversial. The present paucity of data concerning the natural history of WPW syndrome in asymptomatic patients militates against successful identification of those patients who are at risk for sudden death. Long-term prospective studies are necessary to clarify which asymptomatic patients with WPW syndrome require treatment. PMID:3621280

  18. Causes of death in X chromatin positive males (Klinefelter's syndrome).

    PubMed Central

    Price, W H; Clayton, J F; Wilson, J; Collyer, S; De Mey, R

    1985-01-01

    The causes of death in 466 X chromatin positive males (Klinefelter's syndrome) studied prospectively over the last 25 years have been analysed. We have previously reported the overall mortality to be increased by 50% and life expectancy reduced by about five years. A highly significant increase in mortality from cerebrovascular disease was observed in the sub group considered to be most representative of X chromatin positive males in general. In the age group up to 45 years this increase could be attributed to deaths from subarachnoid haemorrhage. An increase in mortality from respiratory diseases was observed in those ascertained in psychiatric hospitals. In the sample as a whole there were small but highly significant numbers of deaths from carcinoma of the breast and aortic valve disease. The deaths from carcinoma of the breast were comparable with those expected if female mortality rates were applied. PMID:4086964

  19. Almost 19 million childhood injuries result in 11 thousand deaths.

    PubMed

    Waldman, H B

    1996-01-01

    Details are provided from a series of government and private agency reports on the accidents and related deaths of children and the effectiveness of efforts being made to reduce the incidence of these tragedies. In 1992 there were 83,000 accidental deaths and more than 17 million disabling injuries in the United States costing $399 billion. The death rate was down 10 percent from 1991, and also the lowest recorded in recent years. Included in these statistics are 19 million injured children and 11 thousand dead children. The leading cause of death of children less than ten years of age was an unintentional injury. The author presents details on the accidents and related deaths, as well as the effectiveness of efforts to reduce the incidence of these accidents. From the youngest ages to the teen years, a greater number of males than females are injured and die from accident-related causes. The number of accidental deaths of children, ages five to nine years, almost equalled the number of deaths from natural causes. For children ten to fourteen years old, the number of accidental deaths was one third greater than the number from natural causes. Statistics regarding death and injury from motor vehicles, firearms, consumer products, and poison are presented. PMID:8655752

  20. Childhood cancer and later development of the metabolic syndrome.

    PubMed

    Talvensaari, K; Knip, M

    1997-10-01

    The improving survival rate of patients with childhood cancer has led to a growing awareness of the long-term effects of malignant disease and its treatment. Various endocrine abnormalities have been reported as frequent long-term adverse effects of cancer treatment in childhood, and among these growth hormone (GH) deficiency is the most common one, especially after cranial irradiation. Besides promoting growth, GH has well-established metabolic effects. Patients with GH deficiency tend to be obese, and obesity per se is also associated with insulin resistance which plays a key role in a cluster of metabolic derangements including glucose intolerance, hypertension, lipid abnormalities and atherosclerotic cardiovascular disease. This condition is known as the metabolic syndrome. Our recent observations indicate that a combination of obesity, glucose intolerance, hyperinsulinaemia and an abnormal lipid profile can be observed in long-term survivors of childhood cancer. Every sixth patient had the triad of obesity, hyperinsulinaemia and low HDL cholesterol, whereas this combination was not seen in any of the controls. The survivors with such a high-risk profile for cardiovascular disease had markedly reduced spontaneous GH secretion, and also additional features of the metabolic syndrome, such as higher systolic blood pressure and higher plasma glucose and serum triglyceride levels. Accordingly, decreased GH secretion, or alternatively some other disturbance in the hypothalamic-pituitary axis, emerging as a consequence of cranial radiation, may expose long-term survivors of childhood cancer to premature evolution of the metabolic syndrome. This can have an important impact on the long-term prognosis in these patients, because the syndrome as such results in an increased risk of cardiovascular morbidity and mortality. PMID:9453278

  1. Practitioner Review: Chronic Fatigue Syndrome in Childhood

    ERIC Educational Resources Information Center

    Garralda, M. Elena; Chalder, Trudie

    2005-01-01

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

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

    ERIC Educational Resources Information Center

    Kliman, Gilbert

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

  3. 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:…

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

    PubMed

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

    2001-01-01

    Sudden death is a rare condition in asymptomatic patients with asymptomatic intermittent Wolff Parkinson syndrome (WPW); for this reason it is believed that these patients should not undergo to radiofrequency ablation. We report an asymptomatic 44 year old man who developed ventricular fibrillation with a pre-excited RR interval less than 200 msec during atrial fibrillation, as a first manifestation of WPW syndrome. The Holter monitoring showed intermittent pre-excitation at low heart rate (70 bpm). During the electrophysiological study a successfully radiofrequency catheter ablation of a right posteroseptal accessory pathway was performed. We concluded that intermittent pre-excitation may not be used to identify patients who are at risk of sudden death. Radiofrequency catheter ablation should be recommended in those patients with a very high success rate, and a low incidence of serious complications. PMID:11565363

  5. Mechanisms underlying Phalaris aquatica "sudden death" syndrome in sheep.

    PubMed

    Bourke, C A; Carrigan, M J

    1992-07-01

    Twenty outbreaks of Phalaris aquatica "sudden death" syndrome in sheep were investigated between 1981 and 1991. Four were confirmed and one was suspected, to be a cardiac disorder; 5 were confirmed and 3 were suspected, to be a polioencephalomalacic disorder; the aetiology of the remaining 7 outbreaks could not be determined. Potentially toxic levels of hydrocyanic acid (20 to 36 mg/100 g) were measured in the 3 toxic phalaris pastures tested. The measurement of potentially toxic levels of nitrate nitrogen (2920 micrograms/g) in toxic phalaris pastures by others, was noted. It is suggested that phalaris "sudden death" syndrome could have as many as 4 different underlying mechanisms, and that these might reflect the presence in the plant of a cardio-respiratory toxin, a thiaminase and amine co-substate, cyanogenic compounds, and nitrate compounds. PMID:1445081

  6. 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.

  7. Childhood obesity and the metabolic syndrome in developing countries.

    PubMed

    Gupta, Nidhi; Shah, Priyali; Nayyar, Sugandha; Misra, Anoop

    2013-03-01

    Rapidly changing dietary practices accompanied by an increasingly sedentary lifestyle predispose to nutrition-related non-communicable diseases, including childhood obesity. Over the last 5 y, reports from several developing countries indicate prevalence rates of obesity (inclusive of overweight) >15 % in children and adolescents aged 5-19 y; Mexico 41.8 %, Brazil 22.1 %, India 22.0 % and Argentina 19.3 %. Moreover, secular trends also indicate an alarming increase in obesity in developing countries; in Brazil from 4.1 % to 13.9 % between 1974 and 1997; in China from 6.4 % to 7.7 % between 1991 and 1997; and in India from 4.9 % to 6.6 % between 2003-04 to 2005-06. Other contributory factors to childhood obesity include: high socio-economic status, residence in metropolitan cities and female gender. Childhood obesity tracks into adulthood, thus increasing the risk for conditions like the metabolic syndrome, type 2 diabetes mellitus (T2DM), polycystic ovarian syndrome, hypertension, dyslipidemia and coronary artery disease later in life. Interestingly, prevalence of the metabolic syndrome was 35.2 % among overweight Chinese adolescents. Presence of central obesity (high waist-to-hip circumference ratio) along with hypertriglyceridemia and family history of T2DM increase the odds of T2DM by 112.1 in young Asian Indians (< 40 y). Therapeutic lifestyle changes and maintenance of regular physical activity are most important strategies for preventing childhood obesity. Effective health awareness educational programs for children should be immediately initiated in developing countries, following the successful model program in India (project 'MARG'). PMID:23334584

  8. "Excited delirium syndrome": is it a cause of death?

    PubMed

    Kodikara, Sarathchandra; Cunningham, Kristopher; Pollanen, Michael S

    2012-09-01

    Excited delirium syndrome (EDS) has become a controversial and vexing forensic issue due to its association with restraint and sudden unexpected death. Although some authorities and jurisdictions recognised EDS as a cause of death there is no consensus among the medical community in this regard. The overlapping nature of the spectrum of antemortem behaviours and signs with many natural disease processes complicates this issue further. We describe two deaths which initially presented as EDS-like behaviour during restraint. In the first case, the deceased was travelling on a long distance flight when he died while in the custody of air cabin crew. The autopsy revealed the cause of death as air travel-related pulmonary thromboembolism. Acute alcoholic intoxication, nicotine withdrawal, hypoxia due to acute pulmonary thromboembolism, and hypobaric environment in the air plane cabin appeared as the potential reasons for EDS-like behaviour. In the second case, the deceased died while in the custody of immigration officials. At autopsy the cause of death turned out to be tense pericardial effusion due to fibrinous pericarditis. In this case, hypoperfusion of the brain following systemic hypotension as a result of cardiac tamponade associated with pericardial effusion likely led to the EDS-like behaviour. Clinicopathologic correlation in these two cases would strongly suggest EDS as the cause of death, had the decedents not had fatal anatomical causes of death. This alerts the forensic pathologist that not all the individuals dying with signs and symptoms of EDS during restraint are accounted for EDS as the immediate cause of death. PMID:22622258

  9. Catch-up growth in childhood and death from coronary heart disease: longitudinal study

    PubMed Central

    Eriksson, J G; Forsén, T; Tuomilehto, J; Winter, P D; Osmond, C; Barker, D J P

    1999-01-01

    Objective To examine whether catch-up growth during childhood modifies the increased risk of death from coronary heart disease that is associated with reduced intrauterine growth. Design Follow up study of men whose body size at birth was recorded and who had an average of 10 measurements taken of their height and weight through childhood. Setting Helsinki, Finland. Subjects 3641 men who were born in Helsinki University Central Hospital during 1924-33 and who went to school in Helsinki. Main outcome measures Hazard ratios for death from coronary heart disease. Results Death from coronary heart disease was associated with low birth weight and, more strongly, with a low ponderal index at birth. Men who died from coronary heart disease had an above average body mass index at all ages from 7 to 15 years. In a simultaneous regression the hazard ratio for death from the disease increased by 14% (95% confidence interval 8% to 19%; P<0.0001) for each unit (kg/m3) decrease in ponderal index at birth and by 22% (10% to 36%; P=0.0001) for each unit (kg/m2) increase in body mass index at 11 years of age. Body mass index in childhood was strongly related to maternal body mass index, which in turn was related to coronary heart disease. The extent of crowding in the home during childhood, although related to body mass index in childhood, was not related to later coronary heart disease. Conclusion The highest death rates from coronary heart disease occurred in boys who were thin at birth but whose weight caught up so that they had an average or above average body mass from the age of 7 years. Death from coronary heart disease may be a consequence of poor prenatal nutrition followed by improved postnatal nutrition. Key messagesMen who had low birth weight or were thin at birth have high death rates from coronary heart diseaseDeath rates are even higher if weight “catches up” in early childhoodDeath from coronary heart disease may be a consequence of prenatal undernutrition

  10. 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.…

  11. Violent death in a rare peroxisomal disease--Zellweger syndrome.

    PubMed

    Malinescu, Bogdan; Martius, Eliza; Pelin, Ana Maria

    2015-10-01

    Peroxisomal diseases are rare (1:50,000), genetically determined disorders (autosomal recessive), systemic, multiorgan illnesses with prominent involvement of the nervous system, caused either by the failure to form or to maintain the peroxisome, or by a defect in the function of a single or multiple peroxisomal enzymes. Peroxisomes contain approximately 50 enzymes which are responsible for many metabolic reactions, and play an important role in the oxidation of saturated very-long-chain fatty acids (VLCFA). The authors present the case of a Romanian boy, who died at the age of 1.6 of one of the peroxisomal diseases-Zellweger syndrome. Newborn infants with Zellweger syndrome have a typical dysmorphic facies, neonatal seizures, profound hypotonia, and eye abnormalities. Major abnormalities are present in the liver (fibrotic), kidney (cortical cysts), and brain (lipid-laden macrophages and histiocytes in cortical and periventricular areas, demyelination, centrosylvian polymicrogyria and pachygyria)-cerebro-hepato-renal syndrome (CHRS) (Zellweger). Infants with Zellweger syndrome rarely live more than a few months, but in this case the survival was longer, and the cause of death was not directly the peroxisomal disease but a violent cause of death-mechanical asphyxia with tracheo-bronchial food aspiration. The authors present the results of investigations carried out during the child's life, but also data collected at the autopsy and hystopathological postnecroptic investigations. By presenting this case, the authors wish to bring to your attention a rare pathology in forensic practice by the paradox of finding a common violent cause of death, asphyxia with food aspiration, in a rare metabolic-genetic disease, which is usually fatal by itself. PMID:26235911

  12. Bed sharing and the sudden infant death syndrome.

    PubMed Central

    Klonoff-Cohen, H.; Edelstein, S. L.

    1995-01-01

    OBJECTIVE--To determine whether infants who died of the sudden infant death syndrome routinely shared their parents' bed more commonly than control infants. DESIGN--Case-control study. SETTING--Southern California. SUBJECTS--200 white, African-American, Latin American, and Asian infants who died and 200 living controls, matched by birth hospital, date of birth, sex, and race. MAIN OUTCOME MEASURES--Routine bedding (for example, crib, cradle), day and night time sleeping arrangement (for example, alone or sharing a bed); for cases only, sleeping arrangement at death. Differences in bed sharing practices among races. RESULTS--Of the infants who died of the syndrome, 45 (22.4%) were sharing a bed. Daytime bed sharing was more common in African-American (P < 0.001) and Latin American families (P < 0.001) than in white families. The overall adjusted odds ratio for the syndrome and routine bed sharing in the daytime was 1.38 (95% confidence interval 0.59 to 3.22) and for night was 1.21 (0.59 to 2.48). These odds ratios were adjusted for routine sleep position, passive smoking, breast feeding, intercom use, infant birth weight, medical conditions at birth, and maternal age and education. There was no interaction between bed sharing and passive smoking or alcohol use by either parent. CONCLUSIONS--Although there was a significant difference between bed sharing among African-American and Latin American parents compared with white parents, there was no significant relation between routine bed sharing and the sudden infant death syndrome. PMID:7496236

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

    PubMed

    Lee, Chioun; Tsenkova, Vera; Carr, Deborah

    2014-03-01

    The long-term effects of childhood trauma on health are well-documented, but few population-based studies have explored how childhood trauma affects the risk of developing metabolic syndrome (MetS) in adulthood. Using data from 1234 adults in the second wave of Midlife in the United States (MIDUS), we investigate (1) the extent to which childhood abuse affects the risk of developing MetS in adulthood; (2) how the severity of different types of abuse (emotional, physical, sexual, or cumulative abuse) affects this risk; and (3) the extent to which adult socioeconomic status (SES), maladaptive stress responses, and unhealthy behaviors mediate the association. We also test whether these associations differ significantly by sex. We find that emotional and physical abuse increase the risk of developing MetS for both sexes, whereas sexual abuse is a predictor for women only. For both sexes, individuals who experienced more cumulative abuse have a greater risk of developing MetS. Adult SES partially explains the association between childhood abuse and MetS. Maladaptive stress responses and unhealthy behaviors further explain the association. Among the potential mediators, poor sleep quality was a significant pathway for men and women, while stress-induced eating was a significant pathway for women only. Our findings suggest that the well-documented health consequences of early life trauma may vary by the nature of the trauma, the victim's sex, and the coping mechanisms that he or she employs. PMID:24524907

  14. Perspectives on edema in childhood nephrotic syndrome.

    PubMed

    Teoh, Chia Wei; Robinson, Lisa A; Noone, Damien

    2015-10-01

    There have been two major theories surrounding the development of edema in nephrotic syndrome (NS), namely, the under- and overfill hypotheses. Edema is one of the cardinal features of NS and remains one of the principal reasons for admission of children to the hospital. Recently, the discovery that proteases in the glomerular filtrate of patients with NS are activating the epithelial sodium channel (ENaC), resulting in intrarenal salt retention and thereby contributing to edema, might suggest that targeting ENaC with amiloride might be a suitable strategy to manage the edema of NS. Other potential agents, particularly urearetics and aquaretics, might also prove useful in NS. Recent evidence also suggests that there may be other areas involved in salt storage, especially the skin, and it will be intriguing to study the implications of this in NS. PMID:26290369

  15. Cholestatic syndromes in infancy and childhood

    SciTech Connect

    Gates, G.F.; Sinatra, F.R.; Thomas, D.W.

    1980-06-01

    Of 33 children with various cholestatic syndromes who were studied with sonography, 19 also had /sup 131/I rose bengal scintigraphy, and 12 also had /sup 99m/Tc sulfur colloid scintigraphy. Patients were categorized into intra- or extrahepatic etiologies for their cholestasis. Of 19 children in the extrahepatic category, 17 had abnormal sonographic studies; two with biliary atresia appeared normal. All 14 patients in the intrahepatic category biliary patency. Some cases of biliary atresia with normal sonography and lack of rose bengal excretion into the intestinal tract could not be separated from cases of neonatal hepatitis using a similar combination of studies. Radiocolloid studies were neonatal hepatitis using a similar combination of studies. Radiocolloid studies were less valuable than other examinations except when demonstrating diffuse hepatic reticuloendothelial dysfunction as found in two cases of congenital syphilitic hepatitis.

  16. Parental Death in Childhood and Loneliness in Young Adults.

    ERIC Educational Resources Information Center

    Murphy, Patricia Ann

    1987-01-01

    Examined relationship between self-esteem and reported mourning behavior as it pertains to loneliness in young adults who, as children, had experienced parental death. Subjects (N=184) aged 18 to 25 completed four questionnaires. Revealed that self-esteem was the single best predictor of loneliness; reported mourning behaviors significantly added…

  17. Unusual cause of childhood anemia: Imerslund Grasbeck syndrome.

    PubMed

    Laxminarayana, Kishan Prasad Hosapatna; Yeshvanth, Sunil Kumar; Shetty, Jayaprakash K; Permi, Harish S; Rao, Chandrika

    2011-07-01

    Imerslund Grasbeck syndrome (IGS) is a rare autosomal recessive childhood disorder characterized by selective Vitamin (vit) B 12 malabsorption with asymptomatic proteinuria without any structural renal pathology. The patients stay healthy for decades with life-long parenteral vit B12. We report a case of young female who presented with pancytopenia and proteinuria, evaluated in local hospitals as chronic hemolytic anemia (autoimmune cause), finally diagnosed as IGS on complete evaluation. She was treated with injectable vit B12 (1000 μg cyanocobalalmin) and showed drastic recovery. IGS should be considered in patients with megaloblastic anemia not responding to oral vit B12 and associated proteinuria. PMID:22219566

  18. 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. PMID:8259083

  19. Rare cause of natural death in forensic setting: hemophagocytic syndrome.

    PubMed

    Ondruschka, B; Habeck, J-O; Hädrich, C; Dreßler, J; Bayer, R

    2016-05-01

    We report about the case of a sudden unexpected death of a 25-year-old male suffering from infectious disease. An autopsy was ordered with no final premortem diagnosis. Microscopic and microbiological examination revealed a pneumococcal bronchopneumonia and hemophagocytic lesions in the bone marrow. After integrating clinical and autopsy reports as well as additional postmortem investigations, the cause of death was found to be infectious-triggered hemophagocytic syndrome (HPS) with a final cytokine storm. This seems to be the first reported fatal case of a reactive form of HPS associated to Streptococcus pneumoniae to the best of our knowledge. HPS is a dangerous hyperinflammation with highly characteristic, but nonspecific, laboratory findings and symptoms. Autopsies in such cases must be carefully performed and include systematic tissue sampling done by an experienced pathologist. PMID:26718840

  20. 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.

  1. 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. PMID:27095464

  2. 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

  3. Causes of accidental childhood deaths in China in 2010: A systematic review and analysis

    PubMed Central

    Chan, Kit Yee; Yu, Xin–wei; Lu, Jia–peng; Demaio, Alessandro Rhyll; Bowman, Kirsty; Theodoratou, Evropi

    2015-01-01

    Background Infectious causes of childhood deaths in the world have decreased substantially in the 21st century. This trend has exposed accidental deaths as an increasingly important future challenge. Presently, little is known about the cause structure of accidental childhood deaths in low– and middle–income country (LMIC) settings. In this paper, we aim to establish cause structure for accidental deaths in children aged 0–4 years in China in the year 2010. Methods In this paper, we explored the database of 208 multi–cause child mortality studies in Chinese that formed a basis for the first published estimate of the causes of child deaths in China (for the year 2008). Only five of those studies identified specific causes of accidental deaths. Because of this, we searched the Chinese medical literature databases CNKI and WanFang for single–cause mortality studies that were focused on accidental deaths. We identified 71 further studies that provided specific causes for accidental deaths. We used epidemiological modeling to estimate the number of accidental child deaths in China in 2010 and to assign those deaths to specific causes. Results In 2010, we estimated 314 581 deaths in children 0–4 years in China, of which 31 633 (10.1%) were accidental. Accidental deaths contributed 7240 (4.0%) of all deaths in neonatal period, 8838 (10.5%) among all post–neonatal infant deaths, and 15 554 (31.7%) among children with 1–4 years of age. Among four tested models, the most predictive was used to establish the likely cause structure of accidental deaths in China. We estimated that asphyxia caused 9490 (95% confidence interval (CI) 8224–11 072), drowning 5694 (95% CI 5061–6327), traffic accidents 3796 (95% CI 3163–4745), poisoning 3163 (95% CI 2531–3796) and falls 2531 (95% CI 2214–3163) deaths. Based on medians from a few rare studies, we also predict 633 (95% CI 316–1265) deaths to be due to burns and 316 (95% CI 0–633) due to falling

  4. [Sudden death in the Wolff-Parkinson-White syndrome].

    PubMed

    García-Cosío Mir, F

    1989-04-01

    Clinical electrophysiologic studies in patients with Wolff-Parkinson-White syndrome (WPW) suffering from ventricular fibrillation have shown a high prevalence of short anterograde refractory period of the accessory pathway (less than or equal to 250 ms), short preexcited RR intervals during atrial fibrillation (less than or equal to 250 ms), and multiple accessory pathways. Unfortunately the specificity of these findings is low, as they are present in almost 50% of patients with WPW without a history of ventricular fibrillation, and in 17% of patients with asymptomatic WPW. Pharmacologic and exercise testing detect a population of WPW with a low probability of having a short anterograde refractory period of the accessory pathway, but don't rule-out the ability of these patients to develop very short RR intervals during atrial fibrillation. Natural history studies show that sudden death in WPW occurs with an incidence less than or equal to 1:1,000 per year. The low predictive value of electrophysiologic and noninvasive studies for sudden death, makes then a poor means for screening patients at risk. Some clinical factors, such as the frequency of tachycardias and/or the detection of episodes of atrial flutter or fibrillation are markers of higher sudden death risk, and indications for aggressive electrophysiologic evaluation. PMID:2675223

  5. Rituximab for troublesome cases of childhood nephrotic syndrome

    PubMed Central

    Safdar, Osama Y; Aboualhameael, Adila; Kari, Jameela A

    2014-01-01

    Nephrotic syndrome (NS) is the most common glomerular disease of childhood. Steroid-dependent and steroid-resistant nephrotic syndrome present challenges in their pharmaceutical management; patients may need several immunosuppressive medication for optimum control, each of which medication has its own safety profile. Rituximab (RTX) is a monoclonal antibody that targets B cells and has been used successfully for management of lymphoma and rheumatoid arthritis. Recent clinical studies showed that rituximab may be an efficacious and safe alternative for the treatment of complicated nephrotic syndrome. In this review article, we aim to review the efficacy and safety of RTX therapy in nephrotic syndrome. We reviewed the literature pertaining to this topic by searching for relevant studies on PubMed and Medline using specific keywords. The initial search yielded 452 articles. These articles were then examined to ensure their relevance to the topic of research. We focused on multicenter randomized controlled trials with relatively large numbers of patients. A total of 29 articles were finally identified and will be summarized in this review. The majority of clinical studies of RTX in complicated pediatric NS showed that rituximab is effective in approximately 80% of patients with steroid-dependent NS, as it decreases the number of relapses and steroid dosage. However, RTX is less effective at achieving remission in steroid-resistant NS. RTX use was generally safe, and most side effects were transient and infusion-related. More randomized, double-blinded clinical studies are needed to assess the role of RTX in children with nephrotic syndrome. PMID:25512892

  6. 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.

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

    PubMed Central

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

    2012-01-01

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

  8. Cardiac and other abnormalities in the sudden infant death syndrome.

    PubMed

    Naeye, R L; Whalen, P; Ryser, M; Fisher, R

    1976-01-01

    Many victims of the sudden infant death syndrome (SIDS) have abnormally heavy cardiac right ventricles. The degree of this abnormality is directly proportional to: a) the mass of muscle about small pulmonary arteries, b) the amount of brown fat retention about adrenal glands, and c) the presence of hepatic erythropoiesis. The pulmonary arterial abnormality is probably the result of chronic alveolar hypoventilation, while brown fat retention and hepatic erythropoiesis are likely consequences of chronic hypoxemia. These abnormalities are found in both SIDS victims who die with and those who die without mild respiratory tract infections. However, there are some differences between the two SIDS groups. Infected victims die at an older age and have smaller thymus glands and larger spleens; there is a greater proportion of males in the infected victims than in the noninfected victims. PMID:1247080

  9. 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…

  10. 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. PMID:23292938

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

    PubMed Central

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

    1991-01-01

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

  12. Causes of childhood deaths in Bangladesh: results of a nationwide verbal autopsy study.

    PubMed Central

    Baqui, A. H.; Black, R. E.; Arifeen, S. E.; Hill, K.; Mitra, S. N.; al Sabir, A.

    1998-01-01

    While knowledge of causes of deaths is important for health sector planning, little is known from conventional sources about the causes of deaths in Bangladesh. This is partly due to deficiencies in the registration system and partly because few deaths are attended by qualified physicians. The present study was undertaken to update the information available on causes of deaths among under-5-year-olds, taking advantage of advances in verbal autopsy methodology and of the national Bangladesh Demographic and Health Survey conducted in 1993-94. About 25% of the deaths were associated with acute lower respiratory infections (ALRI) and about 20% with diarrhoea. Neonatal tetanus and measles remained important causes of death, and drowning was a major cause for 1-4-year-olds. Research and programmes to enable mothers to identify ALRI cases, particularly pneumonia, and to encourage timely and appropriate care-seeking and strengthening of ALRI case management at the primary care facilities are important priorities. While promotion of oral rehydration for watery diarrhoea and antibiotic treatment for dysentery should continue, broader preventive interventions including provision of safe water and sanitation, and improvements in personal hygiene require more attention. Further intensification of immunization programmes and innovative experimental interventions to reduce childhood from drowning should be designed and tested. PMID:9648357

  13. 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…

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

    PubMed Central

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

    2016-01-01

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

  15. The Effects of Childhood Maltreatment on Violent Injuries and Premature Death During Young Adulthood Among Urban High-Risk Men

    PubMed Central

    Lee, Chioun; White, Helene R.

    2013-01-01

    Objective To assess childhood maltreatment as a risk factor for violent injuries and premature death in young adulthood and whether these associations are mediated by adolescent heavy drinking, hard drug use, hard drug selling, and violent offending. Design A prospective longitudinal study of boys followed from childhood into young adulthood. Setting Pittsburgh, Pennsylvania Participants A total 1,009 men of the Pittsburgh Youth Study Main Outcome Measures Premature deaths between ages 18 and 38 from the Social Security Death Index and self-reports of violent injuries inflicted by gunshot or knife between ages 18 and 28. Results Young men who experienced childhood maltreatment, compared to their counterparts who did not experience it, had a greater risk of violent injuries (relative risk [RR], 1.61; 95% confidence interval [CI], 1.01–2.35) and death (hazard ratio, [HR], 2.85; 95% CI, 1.37–5.93) during young adulthood. Adolescent violent offending and hard drug selling explained the association between childhood maltreatment and violent injuries, and violent offending partially accounted for the association between childhood maltreatment and premature death. Although adolescent violent offending predicted both outcomes, maltreated boys still had an increased risk of premature death (HR, 2.54; 95% CI, 1.21–5.34) after accounting for their adolescent violence. Conclusions Childhood maltreatment significantly predicts premature death and violent injuries during young adulthood. These associations are partially explained by adolescent involvement in violence and drug dealing. Targeted interventions for maltreated boys to reduce their involvement in adolescent deviant behaviors may help decrease their risks for later serious injuries and premature death. PMID:22566518

  16. Child abuse, sudden infant death syndrome, infectious disease, and vaccinations.

    PubMed

    Walker, A; Chernoff, R; Joffe, A; Wilson, M E

    1994-04-01

    Clinicians all too often face the difficult dilemma of deciding whether a bone fracture in a young child was intentional. A structured expert consensus process suggests that all rib fractures; midshaft or metaphyseal fractures of the humerus; and fractures of the radius, ulna, tibia, or fibula in children younger than 1 year of age are highly likely to have been caused by abuse. Abused children are more likely to have negative social relationships with other children than their school-aged peers. Research on the causes of sudden infant death syndrome is still confounded by the likelihood that some deaths for which the label was misapplied are included in many studies; however, the presence of smokers in the household in the postnatal period appears to be yet another factor associated with increased risk. Congenital syphilis is on the rise. Detection of infants who have been infected is incomplete. Lack of prenatal care is strongly associated with infection. Cord serology is not sensitive enough to detect all possible cases. Testing of both maternal and neonatal sera results in detection of more infants at risk. Current tests still result in the treatment of some infants who are not themselves infected. Amoxicillin clavulante given twice daily rather then thrice, cefixime given once a day, and a single intramuscular dose of ceftriaxone have all shown acceptable--though not exceptional--cure rates for otitis media. Price is a consideration. Fewer courses of antibiotics would be necessary if more infants were breastfed. Exclusively breastfeeding to at least 4 months cuts the number of bouts of otitis media almost in half.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8032405

  17. Sudden infant death syndrome and abnormal metabolism of thiamin.

    PubMed

    Lonsdale, Derrick

    2015-12-01

    Although it has been generally accepted that moving the infant from the prone to the supine position has solved the problem of sudden infant death syndrome (SIDS), it has been hypothesized that this is an insufficient explanation and that a mixture of genetic risk, some form of stressful incident and marginal brain metabolism is proportionately required. It is suggested that each of these three variables, with dominance in one or more of them, act together in the common etiology. Much has been written about the association of thiamin and magnesium but the finding of extremely high concentrations of serum thiamin in SIDs victims has largely caused rejection of thiamin as being involved in the etiology. The publication of abnormal brainstem auditory evoked potentials strongly suggests that there are electrochemical changes in the brainstem affecting the mechanisms of automatic breathing and the control of cardiac rhythm. The brainstem, cerebellum and limbic system of the brain are known to be highly sensitive to thiamin deficiency (pseudo-hypoxia) and the pathophysiology is similar to a mild continued deprivation of oxygen. Little attention has been paid to the complex metabolism of thiamin. Dietary thiamin requires the cooperation of the SLC19 family of thiamin transporters for its absorption into cells and recent information has shown that transporter SNPs may be relatively common and can be expected to increase genetic risk. Thiamin must be phosphorylated to synthesize thiamin pyrophosphate (TPP), well established in its vital action in glucose metabolism. TPP is also a cofactor for the enzyme 2-hydroxyacyl-CoA lyase (HACL1) in the peroxisome, emphasizing its importance in alpha oxidation and plasmalogen synthesis in cell membrane physiology. The importance of thiamine triphosphate (TTP) in energy metabolism is still largely unknown. Thiamin metabolism has been implicated in hyperemesis gravidarum and iatrogenic Wernicke encephalopathy has been reported when the

  18. Impairment and Distress Judgments of Symptoms Composing Childhood Externalizing and Internalizing Syndromes

    ERIC Educational Resources Information Center

    Howell, Andrew J.; Watson, David C.

    2009-01-01

    The pattern of perceived dysfunction associated with symptoms composing the externalizing childhood disorder syndrome was compared to the pattern characterizing the internalizing syndrome. In Study 1, undergraduate students (N = 205) judged the social impairment, academic/occupational impairment and personal distress associated with symptoms from…

  19. The triple risk hypotheses in sudden infant death syndrome.

    PubMed

    Guntheroth, Warren G; Spiers, Philip S

    2002-11-01

    Sudden infant death syndrome (SIDS) victims were regarded as normal as a matter of definition (Beckwith 1970) until 1952 when Kinney and colleagues argued for elimination of the clause, "unexpected by history." They argued that "not all SIDS victims were normal," and referred to their hypothesis that SIDS results from brain abnormalities, which they postulated "to originate in utero and lead to sudden death during a vulnerable postnatal period." Bergman (1970) argued that SIDS did not depend on any "single characteristic that ordains a infant for death," but on an interaction of risk factors with variable probabilities. Wedgwood (1972) agreed and grouped risk factors into the first "triple risk hypothesis" consisting of general vulnerability, age-specific risks, and precipitating factors. Raring (1975), based on a bell-shaped curve of age of death (log-transformed), concluded that SIDS was a random process with multifactorial causation. Rognum and Saugstad (1993) developed a "fatal triangle" in 1993, with groupings similar to those of Wedgwood, but included mucosal immunity under a vulnerable developmental stage of the infant. Filiano and Kinney (1994) presented the best known triple risk hypothesis and emphasized prenatal injury of the brainstem. They added a qualifier, "in at least a subset of SIDS," but, the National Institute of Child Health and Development SIDS Strategic Plan 2000, quoting Kinney's work, states unequivocally that "SIDS is a developmental disorder. Its origins are during fetal development." Except for the emphasis on prenatal origin, all 3 triple risk hypotheses are similar. Interest in the brainstem of SIDS victims began with Naeye's 1976 report of astrogliosis in 50% of all victims. He concluded that these changes were caused by hypoxia and were not the cause of SIDS. He noted an absence of astrogliosis in some older SIDS victims, compatible with a single, terminal episode of hypoxia without previous hypoxic episodes, prenatal or postnatal

  20. Sudden infant death syndrome (SIDS) and the immune response.

    PubMed

    Reid, G M

    1992-10-01

    Vitamin E pretreatment significantly prevented E. coli-induced Disseminated Intravascular Coagulation (DIC) in rats (1). DIC, a reduction in fibrinogen and a falling platelet count and diffuse haemorrhage are part of the clinical features of Haemorrhagic Shock Encephalopathy Syndrome (HSES), recognised as a disease entity in the 1980s (2). At the SIDS Conference 1974 Reisinger described the effect of Escherichia coli (E. coli) endotoxin on the rabbit (3). An early effect was a reduction in fibrinogen and a falling platelet count, resulting in the release of relatively large amounts of the neuro-transmitter serotonin, stored in platelets (3, 4). Fibrinogen inhibited the release of serotonin from platelets (24). Serotonin is released from platelets during platelet aggregation (14). Platelet aggregation is inhibited by vitamin E (1). Serotonin is a neuro-transmitter associated with deep sleep, respiratory movements and cardiovascular collapse (3). Death at a later stage involved vascular permeability, edema and haemorrhage. After fibrin-platelet clots had formed DIC was present in lungs, kidneys and other organs (3). Medical researchers in Australia linked almost half of SIDS victims with a poisonous strain of intestinal E. coli bacteria (5). Dietary selenium in the intestinal villous tip is considered a daily modulator of cytochrome P450-dependent metabolism of drugs and toxins absorbed by intestinal mucosa (6). Villous atrophy occurs in HSES (2). PMID:1461172

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

    PubMed Central

    Salomonis, Nathan

    2014-01-01

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

  2. Early repolarization syndrome: A cause of sudden cardiac death

    PubMed Central

    Ali, Abdi; Butt, Nida; Sheikh, Azeem S

    2015-01-01

    Early repolarization syndrome (ERS), demonstrated as J-point elevation on an electrocardiograph, was formerly thought to be a benign entity, but the recent studies have demonstrated that it can be linked to a considerable risk of life - threatening arrhythmias and sudden cardiac death (SCD). Early repolarization characteristics associated with SCD include high - amplitude J-point elevation, horizontal and/or downslopping ST segments, and inferior and/or lateral leads location. The prevalence of ERS varies between 3% and 24%, depending on age, sex and J-point elevation (0.05 mV vs 0.1 mV) being the main determinants. ERS patients are sporadic and they are at a higher risk of having recurrent cardiac events. Implantable cardioverter-defibrillator implantation and isoproterenol are the suggested therapies in this set of patients. On the other hand, asymptomatic patients with ERS are common and have a better prognosis. The risk stratification in asymptomatic patients with ERS still remains a grey area. This review provides an outline of the up-to-date evidence associated with ERS and the risk of life - threatening arrhythmias. Further prospective studies are required to elucidate the mechanisms of ventricular arrhythmogenesis in patients with ERS. PMID:26322186

  3. TESTIN Induces Rapid Death and Suppresses Proliferation in Childhood B Acute Lymphoblastic Leukaemia Cells

    PubMed Central

    Weeks, Robert J.; Ludgate, Jackie L.; LeMée, Gwenn; Morison, Ian M.

    2016-01-01

    Background Childhood acute lymphoblastic leukaemia (ALL) is the most common malignancy in children. Despite high cure rates, side effects and late consequences of the intensive treatments are common. Unquestionably, the identification of new therapeutic targets will lead to safer, more effective treatments. We identified TES promoter methylation and transcriptional silencing as a very common molecular abnormality in childhood ALL, irrespective of molecular subtype. The aims of the present study were to demonstrate that TES promoter methylation is aberrant, to determine the effects of TES re-expression in ALL, and to determine if those effects are mediated via TP53 activity. Methods Normal fetal and adult tissue DNA was isolated and TES promoter methylation determined by Sequenom MassARRAY. Quantitative RT-PCR and immunoblot were used to confirm re-expression of TES in ALL cell lines after 5’-aza-2’-deoxycytidine (decitabine) exposure or transfection with TES expression plasmids. The effects of TES re-expression on ALL cells were investigated using standard cell proliferation, cell death and cell cycle assays. Results In this study, we confirm that the TES promoter is unmethylated in normal adult and fetal tissues. We report that decitabine treatment of ALL cell lines results in demethylation of the TES promoter and attendant expression of TES mRNA. Re-expression of TESTIN protein in ALL cells using expression plasmid transfection results in rapid cell death or cell cycle arrest independent of TP53 activity. Conclusions These results suggest that TES is aberrantly methylated in ALL and that re-expression of TESTIN has anti-leukaemia effects which point to novel therapeutic opportunities for childhood ALL. PMID:26985820

  4. [Two Surgical Cases of Loeys-Dietz Syndrome in Childhood].

    PubMed

    Sugawara, Masaaki; Oguma, Fumiaki; Hirahara, Hiroyuki

    2016-08-01

    Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve. The aneurysmal ascending aorta was replaced with a Dacron graft. Pulmonary valvuloplasty and pulmonary arterioplasty was performed. Case 2 was a 3-month-old female infant, who had a patent ductus arteriosus( PDA) and aortic root dilation. A detailed physical examination revealed hypertelorism, bifid uvula, retrognathia, talipes equinovarus, and camptodactyly. Computed tomography and echocardiography demonstrated PDA, Valsalva sinus dilation, and arterial tortuosity. These findings were consistent with the clinical manifestations of LDS. Surgical ligation and clipping of the PDA was performed with good results. A molecular genetic analysis subsequently demonstrated a heterozygous missense mutation of the TGFBR2. Since aortic dissection occurs at smaller aortic diameters, early diagnosis and close monitoring are important for patients with LDS. PMID:27476563

  5. The non-immunosuppressive management of childhood nephrotic syndrome.

    PubMed

    McCaffrey, James; Lennon, Rachel; Webb, Nicholas J A

    2016-09-01

    Idiopathic nephrotic syndrome (INS) is one of the most common renal diseases found in the paediatric population and is associated with significant complications, including infection and thrombosis. A high proportion of children enter sustained remission before adulthood, and therapy must therefore mitigate the childhood complications, while minimising the long-term risk to health. Here we address the main complications of INS and summarise the available evidence and guidance to aid the clinician in determining the appropriate treatment for children with INS under their care. Additionally, we highlight areas where no consensus regarding appropriate management has been reached. In this review, we detail the reasons why routine prophylactic antimicrobial and antithrombotic therapy are not warranted in INS and emphasise the conservative management of oedema. When pharmacological intervention is required for the treatment of oedema, we provide guidance to aid the clinician in determining the appropriate therapy. Additionally, we discuss obesity and growth, fracture risk, dyslipidaemia and thyroid dysfunction associated with INS. Where appropriate, we describe how recent developments in research have identified potential novel therapeutic targets. PMID:26556028

  6. 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. PMID:23834109

  7. 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

  8. 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)

  9. Coping with Sudden Infant Death Syndrome: Intervention Strategies and a Case Study.

    ERIC Educational Resources Information Center

    Aadalen, Sharon

    1980-01-01

    Family-centered intervention after the death of a baby due to sudden infant death syndrome facilitates reorganization, growth, and development of the family system. A potentially defeating crisis becomes an opportunity to develop coping skills and strengthen family members. Public health nursing is an essential component of the program.…

  10. Sudden Infant Death Syndrome: review of implicated genetic factors.

    PubMed

    Weese-Mayer, Debra E; Ackerman, Michael J; Marazita, Mary L; Berry-Kravis, Elizabeth M

    2007-04-15

    Genetic studies in Sudden Infant Death Syndrome (SIDS) have been motivated by clinical, epidemiological, and/or neuropathological observations in SIDS victims, with subsequent pursuit of candidate genes in five categories: (1) genes for ion channel proteins based on electrocardiographic evidence of prolonged QT intervals in SIDS victims, (2) gene for serotonin transporter based on decreased serotonergic receptor binding in brainstems of SIDS victims, (3) genes pertinent to the early embryology of the autonomic nervous system (ANS) (and with a link to the 5-HT system) based on reports of ANS dysregulation in SIDS victims, (4) genes for nicotine metabolizing enzymes based on evidence of cigarette smoking as a modifiable risk factor for SIDS, and (5) genes regulating inflammation, energy production, hypoglycemia, and thermal regulation based on reports of postnatal infection, low birth weight, and/or overheating in SIDS victims. Evidence for each of these classes of candidate genes is reviewed in detail. As this review indicates, a number of genetically controlled pathways appear to be involved in at least some cases of SIDS. Given the diversity of results to date, genetic studies support the clinical impression that SIDS is heterogeneous with more than one entity and with more than one possible genetic etiology. Future studies should consider expanded phenotypic features that might help clarify the heterogeneity and improve the predictive value of the identified genetic factors. Such features should be evaluated to the extent possible in both SIDS victims and their family members. With 2,162 infants dying from SIDS in 2003 in the U.S. alone, and improved but still imperfect parent and caretaker compliance with known modifiable risk factors for SIDS, it behooves clinicians, researchers, and parents to combine efforts to reach a common goal. The message of the "Back to Sleep" campaign needs to be re-introduced/re-engineered to reach families and caretakers of all

  11. 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

  12. Childhood Ataxia with Cerebral Hypomyelination Syndrome: a Variant of Patient with Early Childhood Onset Related to EIF2B3 Mutation. A Case Report.

    PubMed

    Perfetto, F; Stoppino, L P; Calì, A; Milillo, P; Grilli, G; Vinci, R; Macarini, L

    2012-03-01

    Childhood ataxia with central nervous system hypomyelination (CACH) syndrome is an autosomal recessive transmitted leukodystrophy characterised by early childhood onset and acute deterioration following febrile illnesses or head trauma. We describe the case of a child with early onset of CACH syndrome. He presented with cerebellar ataxia beginning around two years of age with mild mental retardation. MRI showed diffuse white matter signal changes with thinning of the corpus callosum. PMID:24028880

  13. [Observations of play and verbal behavior of boys with fragile X syndrome in early childhood].

    PubMed

    Sarimski, K

    1999-08-01

    Reports on development and behaviour in boys with fragile-X syndrome support the idea of a characteristic behavioural phenotype in this special population. Preliminary results are presented for 10 boys with fragile-X syndrome in early childhood. Severe mental handicaps and communicative abnormalities are observed less frequently than was expected on the basis of results reported for school-age children or adults. Boys with fragile-X syndrome show goal-directed and cooperative play behaviours in a Montessori play session, but less persistence and organisation than children with normal development or a mental handicap of heterogeneous origin. Results confirmed these behavioural differences as characteristic aspects of a "behavioural phenotype" in children who already in early childhood have fragile-X syndrome. PMID:10478436

  14. Congenital myasthenic syndromes in childhood: diagnostic and management challenges.

    PubMed

    Kinali, M; Beeson, D; Pitt, M C; Jungbluth, H; Simonds, A K; Aloysius, A; Cockerill, H; Davis, T; Palace, J; Manzur, A Y; Jimenez-Mallebrera, C; Sewry, C; Muntoni, F; Robb, S A

    2008-09-15

    The Congenital Myasthenic Syndromes (CMS), a group of heterogeneous genetic disorders of neuromuscular transmission, are often misdiagnosed as congenital muscular dystrophy (CMD) or myopathies and present particular management problems. We present our experience of 46 children with CMS, referred to us between 1992-2007 with provisional diagnoses of congenital myopathy (22/46), CMS or limb-girdle myasthenia (9/46), central hypotonia or neurometabolic disease (5/46), myasthenia gravis (4/46), limb-girdle or congenital muscular dystrophy (4/46) and SMA (2/46). Diagnosis was often considerably delayed (up to 18y4 m), despite the early symptoms in most cases. Diagnostic clues in the neonates were feeding difficulties (29/46), hypotonia with or without limb weakness (21/46), ptosis (19/46), respiratory insufficiency (12/46), contractures (4/46) and stridor (6/46). Twenty-five children had delayed motor milestones. Fatigability developed in 43 and a variable degree of ptosis was eventually present in 40. Over the period of the study, the mainstay of EMG diagnosis evolved from repetitive nerve stimulation to stimulation single fibre EMG. The patients were studied by several different operators. 66 EMGs were performed in 40 children, 29 showed a neuromuscular junction abnormality, 7 were myopathic, 2 had possible neurogenic changes and 28 were normal or inconclusive. A repetitive CMAP was detected in only one of seven children with a COLQ mutation and neither of the two children with Slow Channel Syndrome mutations. Mutations have been identified so far in 32/46 children: 10 RAPSN, 7 COLQ, 6 CHRNE, 7 DOK7, 1 CHRNA1 and 1 CHAT. 24 of 25 muscle biopsies showed myopathic changes with fibre size variation; 14 had type-1 fibre predominance. Three cases showed small type-1 fibres resembling fibre type disproportion, and four showed core-like lesions. No specific myopathic features were associated with any of the genes. Twenty children responded to Pyridostigmine treatment alone

  15. The Genomic Load of Deleterious Mutations: Relevance to Death in Infancy and Childhood

    PubMed Central

    Morris, James Alfred

    2015-01-01

    The human diploid genome has approximately 40,000 functioning conserved genes distributed within 6 billion base pairs of DNA. Most individuals carry a few heterozygous deleterious mutations and this leads to an increased risk of recessive disease in the offspring of cousin unions. Rare recessive disease is more common in the children of cousin marriages than in the general population, even though <1% of marriages in the Western World are between first cousins. But more than 90% of the children of cousin marriages do not have recessive disease and are as healthy as the rest of the population. A mathematical model based on these observations generates simultaneous equations linking the mean number of deleterious mutations in the genome of adults (M), the mean number of new deleterious mutations arising in gametogenesis and passed to the next generation (N) and the number of genes in the human diploid genome (L). The best estimates are that M is <7 and N is approximately 1. The nature of meiosis indicates that deleterious mutations in zygotes will have a Poisson distribution with a mean of M + N. There must be strong selective pressure against zygotes at the upper end of the Poisson distribution otherwise the value of M would rise with each generation. It is suggested that this selection is based on synergistic interaction of heterozygous deleterious mutations acting in large complex highly redundant and robust genetic networks. To maintain the value of M in single figures over many thousands of generations means that the zygote loss must be of the order of 30%. Most of this loss will occur soon after conception but some will occur later; during fetal development, in infancy and even in childhood. Selection means genetic death and this is caused by disease to which the deleterious mutations predispose. In view of this genome sequencing should be undertaken in all infant deaths in which the cause of death is not ascertained by standard techniques. PMID:25852684

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

    PubMed Central

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

    2013-01-01

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

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

    ERIC Educational Resources Information Center

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

    2007-01-01

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

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

    ERIC Educational Resources Information Center

    Young, Walter C.; And Others

    1991-01-01

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

  19. 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…

  20. 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…

  1. 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...

  2. 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) PMID:7666822

  3. Case-control study of sudden infant death syndrome in Lithuania, 1997–2000

    PubMed Central

    Bubnaitienė, Vilija; Kalėdienė, Ramunė; Kėvalas, Rimantas

    2005-01-01

    Background To identify risk factors for sudden infant death syndrome relevant in Lithuania. Methods A nationwide case-control study surveying parents of 35 infants who died from sudden infant death syndrome during the period of 1997–2000 and parents of 145 control infants matched with SIDS infants for date of birth and for region of birth was carried out. Results Deaths incidence was greater in the warm period (60%) vs. cold period (40%). Prone and side sleeping positions both carried no increased risk of sudden infant death syndrome compared with supine because of a rare prone sleeping (4.1% of controls vs. 0% of dead infants) and more prevalent side than supine sleeping (84.8% of controls vs. 94.3% of dead infants) in the controls as well as the cases. Bed sharing for the whole night as a risk factor for sudden infant death syndrome has not been confirmed, either, as bed sharing was common only for the controls (13.8% of controls vs. 0% of dead infants). Routine sleeping environment factors such as heavy wrapping (≥4 togs) of an infant (odds ratio 8.49; 95% confidence interval 2.38 to 30.32), sleeping in a bassinet (4.22; 1.16 to 15.38) and maternal factors such as maternal education ≤12 years (4.48; 1.34 to 14.94), unplanned pregnancy (5.22; 1.49 to 18.18) and ≥2 previous live births (3.90; 1.00 to 15.10) were significantly associated with sudden infant death syndrome on multivariate analysis. Conclusion The results of this first population-based case-control study have shed some light on the epidemiology of the syndrome in Lithuania. Although the mortality of sudden infant death syndrome in Lithuania is not high, it might be lowered moreover by public informing about sudden infant death syndrome and related risk factors. Special attention must be paid to mothers with low education on potentially modifiable risk factors such as routine heavy wrapping of an infant during sleep, routine sleeping in a bassinet and unplanned pregnancy. PMID:16283946

  4. Forensic issues and possible mechanisms of sudden death in Rett syndrome.

    PubMed

    Byard, Roger W

    2006-02-01

    A 20-year-old female with an established diagnosis of Rett syndrome was found dead in bed. There had been no history of recent deterioration in health and at autopsy no acute lesions were found. There was no evidence of trauma. Toxicological analysis of blood revealed therapeutic levels of carbamazepine and clonazepam. Death was attributed to the complications of Rett syndrome, an uncommon developmental disorder characterized by autistic type behaviour, hypotonia, stereotyped movements, seizures and growth failure, caused by mutations in the MECP2 gene on the X chromosome. Establishing the precise cause of sudden death in individuals with Rett syndrome may be difficult as epilepsy, defective autonomic nervous system control and cardiac arrhythmias may relate more to functional problems rather than to defects that can be demonstrated at autopsy. Thus, although there are a variety of well-documented underlying mechanisms that may cause sudden death in this condition, determining the exact sequence of events in an unwitnessed death may be more by inference and elimination, given the absence of pathognomonic and acute lethal lesions that are able to be found histopathologically. 'Complications of Rett syndrome' may, therefore, be the most accurate designation when individuals with this condition are found unexpectedly dead and no anatomical cause of death can be identified at autopsy. PMID:16263320

  5. 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…

  6. 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. PMID:25661095

  7. 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

  8. 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. PMID:25370752

  9. 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…

  10. Evaluation of Aggressiveness of Fusarium virguliforme Isolates That Cause Soybean Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Greenhouse studies were conducted to compare the ability of fungal isolates that cause soybean sudden death syndrome (SDS). After an initial evaluation of 123 isolates on soybean, 30 were selected for further tests where both foliar severity and root infection were evaluated. Difference among isolat...

  11. POSSIBLE RELATIONSHIP OF SUDDEN INFANT DEATH SYNDROME TO INDOOR AIR QUALITY

    EPA Science Inventory

    Sudden Infant Death Syndrome (SIDS) has been associated with higher rates of maternal smoking and higher body lead content of SIDS victims compared to control infants, matched for age and sex, who died of other causes. Hoppenbrouwers et al. demonstrated a temporal relationship be...

  12. 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…

  13. Soybean Sudden Death Syndrome Species Diversity within North and South America Revealed by Multilocus Genotyping

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden-death syndrome (SDS) of soybean and has become a serious constraint to the production of this crop in North and South America. Recently published phenotypic and multilocus molecular phylogenetic analyses, and pathogenicity experiments have demonstrated that four morphologically and phylogene...

  14. Transcriptional analysis of soybean roots response to Fusarium virguliforme, the causal agent of sudden death syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) of soybean can be caused by any of four distinct Fusarium species, with F. virguliforme and F. tucumaniae being the main casual agents in North and South America, respectively. Although the fungal tissue is largely confined to the root, the fungus releases a toxin that is...

  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. 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...

  17. 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...

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

    ERIC Educational Resources Information Center

    Lindsey, Helen L.

    1976-01-01

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

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

    ERIC Educational Resources Information Center

    May, Harold J.; Breme, Frederick J.

    1982-01-01

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

  20. 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 ...

  1. Effect of Fungicide Seed Treatments on Fusarium virguliforme and Sudden Death Syndrome of Soybean

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS) is a yield reducing disease increasing in prevalence across soybean producing states. Recent research indicates the SDS pathogen, Fusarium virguliforme, can infect as early as initial radicle emergence. This suggests fungicide seed treatments could offer some protection a...

  2. Metabolic syndrome in the survivors of childhood acute lymphoblastic leukaemia.

    PubMed

    Abu-Ouf, Noran M; Jan, Mohammed M

    2015-01-01

    Metabolic syndrome is a common complication encountered in children surviving acute lymphoblastic leukaemia (ALL). Affected patients develop obesity, insulin resistance, hypertension, and hyperlipidemia. Metabolic syndrome is a consequence of multiple factors, particularly hormonal imbalance induced by various ALL treatments. This review aims to evaluate the risk factors and mechanisms leading to the development of metabolic syndrome. Further research is needed to improve our understanding of the mechanisms leading to insulin resistance and the associated endothelial and adipose tissue dysfunction. Future studies should also examine other possible contributing factors, such as environmental and genetic factors. Understanding these factors will help in guiding modifications of the current ALL treatment protocols in order to prevent the development of this syndrome and hence improve the quality of life of ALL survivors. Until this is achieved, clinicians should continue to identify patients at risk early and use a therapeutic approach that combines dietary restrictions and enhanced physical activity. PMID:25081809

  3. [Sudden death of a 16-year-old girl with WPW syndrome: a case report].

    PubMed

    Wöllner, Kirsten; Doberentz, Elke; Madea, Burkhard

    2015-01-01

    The Wolff-Parkinson-White syndrome is a usually benign heart disease with accessory pathways. Circling excitations arise between atria and ventricles which can lead to cardiac arrhythmias. Cases of sudden cardiac death are rare (0.2 %). Risk factors for sudden cardiac death in patients with WPW syndrome are old age, several accessory pathways, male sex and previous syncopes. A 16-year-old girl was found lying dead in her bed. The evening before, she didn't feel well and complained about abdominal pain. The girl had known epilepsy and Wolff- Parkinson-White syndrome. The macroscopic and histological findings are presented and discussed with reference to the pertinent literature. PMID:26419085

  4. Philemon and Baucis syndrome: three additional cases of double deaths of married couples.

    PubMed

    Delannoy, Y; Tournel, G; Dedouit, F; Cornez, R; Telmon, N; Hedouin, V; Rouge, D; Gosset, D

    2013-03-10

    The simultaneous death of two people is immediately considered as a suspect. However, this feeling is reinforced when the individuals are spouses. In these situations, criminal and forensic investigations are required to establish whether or not the deaths were homicidal in nature. Despite many descriptions of simultaneous deaths being present in the literature, the simultaneous death of two spouses from natural causes is poorly described with Ciesiolka et al., Department of Legal Medicine in Gießen (Germany), being the only ones to have reviewed two case reports involving these circumstances. The scarcity of this type of information in the literature renders the task of claiming natural simultaneous death as the final outcome of an investigation difficult. We would like to report three additional cases with the aim of better describing this type of event. In all three cases, the bodies were those of a married couple in their 80s. The bodies were discovered in the same room. In each case, the death of one of the spouses could be attributed to natural cause; however the death of the other spouse could not be determined with certainty, and shared several similarities in all cases: simultaneity in death; a pre existing cardiovascular disease/disorder; a certain degree of fragility and dependence on the other spouse whose death could lead to acute psychological stress. Intense psychological disorder could trigger acute coronary or rhythmic disorders. The mechanisms by which brain activity influences cardiac electrophysiology are now known to take place via the autonomic nervous system mediation. This brain activity could provide an explanation for the death of the individuals with pre-existing heart conditions, who underwent significant stress upon occurrence of the death of their partners. The death of these individuals, which took place at the same place and time as their deceased spouses, can be attributed to natural causes: the Philemon and Baucis syndrome. PMID

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

    NASA Technical Reports Server (NTRS)

    Buhring, M.; Spies, H. F.

    1981-01-01

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

  6. Lights and shadows in autoinflammatory syndromes from the childhood and adulthood perspective.

    PubMed

    Rigante, Donato; Vitale, Antonio; Natale, Marco Francesco; Cantarini, Luca

    2016-03-01

    In a high percentage of cases, the monogenic autoinflammatory syndromes (AIS), caused by subversion in the inflammasome homeostasis leading to cytokine oversecretion and characterized by multiple inflammatory pictures, start in childhood. However, the description of tardive manifestations, veiled phenotypes, and atypical clinical signs beginning in adulthood has been more and more reported in recent times, requiring that many specialists become confident with concepts, details, and management strategies of AIS. Differences between child- and adult-onset syndromes raise the question of whether pathogenic mechanisms might differ when the timetable of AIS onset diverges, but show that carefulness is needed to establish a straightforward diagnosis. PMID:26631101

  7. Childhood Sjögren syndrome presenting as acute brainstem encephalitis.

    PubMed

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

    2016-01-01

    Sjögren syndrome is an autoimmune disease characterized by dry mouth and eyes, known as sicca symptoms. The exact spectrum of neurological involvement, especially of the central nervous system, in childhood Sjögren syndrome has not been well defined. We report a girl who presented with acute febrile brainstem encephalitis. In retrospect, she had exhibited a preceding history of recurrent conjunctivitis and strong halitosis that could be considered as sicca symptoms. The histopathology results of a minor salivary biopsy, the presence of anti-SSA/Ro antibody, and keratoconjunctivitis confirmed the diagnosis of Sjögren syndrome. Commonly observed features in previously reported patients with childhood Sjögren syndrome and central nervous system complications have included fever at the time of neurologic presentation, cerebrospinal fluid pleocytosis, abnormal neuroimaging, and positivity for several specific antibodies. In children presenting with unknown acute febrile encephalopathy, Sjögren syndrome should be included in the differential diagnosis, especially when sicca symptoms are present. PMID:26006751

  8. 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. PMID:26758061

  9. 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

  10. 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. PMID:26730801

  11. Clinical Characteristics of Childhood Guillain-Barré Syndrome

    PubMed Central

    Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim

    2008-01-01

    Objectives To find the incidence, clinical pattern and outcome of Guillain-Barre syndrome in the Sultanate of Oman in children less than 15 years of age. Methods All children under fifteen years with acute flaccid paralysis were admitted to identify the underlying cause. The diagnosis of Gullain Barre syndrome was made by clinical criteria, cerebrospinal fluid findings and nerve conduction studies. Intravenous immunoglobulins were given to all and two needed plasmapharesis. Results Sixty-one children were diagnosed as Guillan-Barré syndrome and constituted 20% of cases of acute flaccid paralysis. Males 39 (63.9%) outnumbered females (36.1%).The annual incidence below 15 years was 0.45/100,000. Cranial nerves were involved in 31 (50.8%) children. Albumino-cytological dissociation in cerebrospinal fluid was seen in 42/45(93.3%) cases. Acute relapse was seen in six (9.8%) cases. Eleven children (18.3%) needed ventilation. Complete recovery was seen in 45 to 310 days (mean 69.1 days). Three children (4.9%) were left with minimal residual deficit. There was no mortality. Conclusions Guillain Barre syndrome is a serious disease, although recovery is the rule in children. The disease is associated with very low mortality and long term morbidity. Immunoglobulins have reduced the duration of hospital stay and the total time needed for recovery. PMID:22359705

  12. 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...

  13. 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…

  14. 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…

  15. Seasonal differences in risk factors for sudden infant death syndrome. The New Zealand Cot Death Study Group.

    PubMed

    Mitchell, E A; Clements, M; Williams, S M; Stewart, A W; Cheng, A; Ford, R P

    1999-03-01

    The aim of this study was to explore whether the risk of sudden infant death syndrome (SIDS) associated with prone sleeping position and other risk factors varies with season. The study was a large nation-wide case-control study, which compared 485 cases with 1800 controls. Parents of 393 (81.0%) cases and 1591 (88.4%) controls were interviewed. Obstetric records were also examined. Infants dying in winter were older and had lower birthweights than those dying in summer. The increased risk of SIDS associated with prone sleeping position was greater in winter than in summer. In contrast, the increased risk of SIDS associated with excess thermal insulation and bed sharing was less in winter than in summer. Prone sleeping position accounts for about half of the difference between the mortality rate in summer and that in winter. This suggests that some factor related to season modifies the effect of prone sleeping position. PMID:10229033

  16. [A proposal of essentials for forensic pathological diagnosis of sudden infant death syndrome (SIDS)].

    PubMed

    Takatsu, A; Misawa, S; Yoshioka, N; Nakasono, I; Sato, Y; Kurihara, K; Nishi, K; Maeda, H; Kurata, T

    2000-08-01

    There are many sudden unexpected infant death cases which are easily diagnosed as sudden infant death syndrome (SIDS) both with or without autopsy in Japan. A SIDS diagnosis may provide a cover for accidental or criminal death. SIDS should not be a convenient diagnostic box that shelters the cases of unexpected infant death which lack the necessary antemortem information to make the correct diagnosis. The authors consider that SIDS should be diagnosed according to the direction of the international definition of SIDS, and propose the following essentials for a forensic pathological diagnosis. 1) A thorough autopsy should be performed based on precise autopsy protocol, including not only histological observation, but also, if necessary, toxicological, bacteriological, viral and/or biochemical examinations. 2) The forensic pathologist should be provided with pertinent information regarding antemortem health status, past clinical history, social circumstances, death scene investigation, etc. In order to collect more precise information, the authors recommend using a questionnaire such as the example in this report to record information from the deceased's guardians. 3) Suspicion of accidental death or infanticide should be completely ruled out. SIDS should be diagnosed only after these three essentials have been satisfied. When there is even a slight suspicion of accidental death or infanticide, or when the forensic pathologist can not obtain pertinent information about the deceased, the causes and classification of the death should be diagnosed as unspecified or undetermined. That is, the causes and classification of the death are undetermined as to whether it is a natural or unnatural death. Furthermore, several warning flags indicating a possible SIDS diagnosis were proposed: a case found dead in a supine position, the existence of a foreign body in the respiratory tract or mild infectious findings. The authors also emphasize the physician's responsibility to

  17. Management patterns of childhood-onset nephrotic syndrome.

    PubMed

    MacHardy, Nathaniel; Miles, Paul V; Massengill, Susan F; Smoyer, William E; Mahan, John D; Greenbaum, Larry; Massie, Sara; Yao, Lynne; Nagaraj, Shashi; Lin, Jen-Jar; Wigfall, Delbert; Trachtman, Howard; Hu, Yichun; Gipson, Debbie S

    2009-11-01

    As an initial effort to identify opportunities to improve the management of children with nephrotic syndrome, the goal of this study was to assess the present-day management of children with primary nephrotic syndrome. A web-based survey was designed to assess the current management styles of all pediatric nephrology faculties at ten participating institutions. Ninety-one percent completed the initial survey. The duration of initial glucocorticoid therapy ranged from 4 to 24 weeks. Physicians reported that the recommendation for kidney biopsy was dependent on the response to initial corticosteroid therapy, with the minority always recommending a biopsy for frequently relapsing or steroid-dependent cases. All responding physicians recommended a kidney biopsy in steroid-resistant cases. Treatment strategies were reported to vary based upon the steroid response pattern and, where available, kidney histopathology. Striking variations in therapeutic preferences were described when alternatives to glucocorticoids were considered. The variability of management practices among pediatric nephrologists in the USA combined with the changing characteristics of our pediatric population raise concerns about our future strategies for improving healthcare for children coping with nephrotic syndrome. This variability is not unique to children's healthcare or to nephrology. However, a systematic approach to patient care and improvement in health outcomes has been shown to substantially improve morbidity and mortality outcomes in children with chronic health conditions. PMID:19672630

  18. 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.

  19. [Guillain-Barre's syndrome in childhood (author's transl)].

    PubMed

    Mulas, F; Martínez Bermejo, A; Pascual Castroviejo, I

    1976-01-01

    Seventeen cases of Guillain-Barré's syndrome aged between 14 month ans 7 years are studied from clinical, analytical and evolutives aspects. Neither sex nor season predominance occurs. Sixteen of the patients had a previous viral or bacterial infection. Difficulty in walking was the main symptom at the onset of illness. Arreflexia and motot paralysis were always symmetrical and ascending. Albumino-cytological dissociation in the C.S.F. was found in the whole group. An evolutive study was made of the recovery of movement, C.S.F. and tendon reflexes which occurred in this order except in two cases which showed abnormal evolution. We emphasize the extent and frequency of respiratory difficulties at the onset of illness. Some etiopathogenic aspects, the lack of specifity of the syndrome and the differences of the diagnosis with that of poliomyelitis are commented. We point out the lack of effect of the corticosteroids treatment and the positive effects of phisiotherapy after the acute stage. PMID:1267306

  20. 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.

  1. Childhood Sjögren Syndrome: Insights from adults and animal models

    PubMed Central

    Lieberman, Scott M.

    2014-01-01

    Purpose of review Sjögren syndrome (SS) is a chronic autoimmune disease affecting lacrimal and salivary glands and potentially involving extraglandular manifestations. While common in adults, the prevalence and prognosis of childhood SS is unknown, in part due to lack of child-specific diagnostic and classification criteria. This review discusses difficulties in diagnosing childhood SS and highlights recent findings in SS treatment and pathogenesis from studies in adults and animal models over the past 18 months. Recent findings Studies of rituximab show some therapeutic potential in adult SS while newer modalities including gene therapy and mesenchymal stem cell transfer are promising. The pathogenesis of SS is emerging, including roles of T and B lymphocytes, autoantibodies, interferons, and glandular epithelial cells. Specific recent notable findings in SS pathogenesis include identification of a type II interferon signature in salivary glands of SS patients, characterization of salivary gland-infiltrating T cell subsets, and characterization of anti-muscarinic acetylcholine receptor type 3 autoantibodies. Summary Childhood SS is a poorly defined and underdiagnosed autoimmune disease which requires child-specific criteria in order to study disease burden and prognosis. Studies in adults and animal models continue to elucidate new potential diagnostic and therapeutic targets, which may be relevant for childhood SS. PMID:23917159

  2. The course of severe chronic fatigue syndrome in childhood.

    PubMed Central

    Rangel, L; Garralda, M E; Levin, M; Roberts, H

    2000-01-01

    Little has been reported on prognostic indicators in children with chronic fatigue syndrome (CFS). We used interviews with children and parents, a mean of 45.5 months after illness onset, to follow up 25 cases of CFS referred to tertiary paediatric psychiatric clinics. At its worst, the illness had been markedly handicapping (prolonged bed-rest and school absence in two-thirds); mean time out of school was one academic year. Two-thirds, however, had recovered and resumed normal activities--mean duration of illness to recovery/assessment 38 months--and none had developed other medical conditions. Recovery was associated with specific physical triggers to the illness, with start of illness in the autumn school term and with higher socioeconomic status. Severe fatigue states in children can cause serious and longlasting handicap but most children recover. PMID:10741312

  3. APECED syndrome in childhood: clinical spectrum is enlarging.

    PubMed

    Valenzise, Mariella; Alessi, Luca; Bruno, Enrico; Cama, Valeria; Costanzo, Daria; Genovese, Cristina; Mignosa, Cristina; Scuderi, Veronica; DE Luca, Filippo

    2016-06-01

    Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified. PMID:25502918

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

    PubMed

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

    2016-07-01

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

  5. 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

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

    PubMed

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

    2010-12-01

    Despite major improvements in the cure rate of childhood acute myeloid leukaemia (AML), 5-15% of patients still die from treatment-related complications. In a historical prospective cohort study, we analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment-related deaths (TRD) in 525 children included in the Nordic Society of Paediatric Haematology and Oncology (NOPHO)-AML-84, -88 and -93 trials. Seventy patients (13%) died before starting treatment or from treatment-related complications. The death rate rose from 11% in NOPHO-AML-84 to 29% in -88, but then fell to 8% in -93. Sixteen patients (3%) died within the first 2 weeks, mainly from bleeding or leucostasis. Hyperleucocytosis, age <2 or ≥10 years were risk factors. After day 15, 10% of patients died from treatment-related complications with infection as the main cause of death. Risk factors were age <2 or ≥10 years and treatment according to the NOPHO-AML-88 protocol. The number of EDs and TRDs in AML is high. Therefore optimal antifungal prophylaxis is essential, and studies on the benefit of antibacterial prophylaxis and individual risk factors for ED and TRD are needed. PMID:20955398

  7. Neurologic complications of cerebral angiography in childhood moyamoya syndrome.

    PubMed

    Robertson, R L; Chavali, R V; Robson, C D; Barnes, P D; Eldredge, E A; Burrows, P E; Scott, R M

    1998-11-01

    Purpose. To determine the incidence of neurologic complications of cerebral angiography in children with moyamoya syndrome (MMS) as compared to children without MMS. Materials and methods. One-hundred-ninety consecutive cerebral angiograms obtained in 152 children were evaluated. Sixty of these angiograms were obtained in 40 children with MMS. Patients underwent neurologic evaluation prior to and after the procedure. For this study, a neurologic complication was defined as any new focal neurologic deficit or alteration in mental status occurring during the procedure or within the ensuing 24 hours. Results. There were 2 neurologic complications within 24 hours of angiography, one in the MMS group and one in the non-MMS group. One patient with MMS became mute following angiography. The symptom resolved within 12 hours. One patient without MMS being examined postoperatively for residual arteriovenous malformation developed intracranial hemorrhage requiring reexploration 12 hours after the angiogram. Using a two-tail Fisher's exact test, there was no significant statistical difference in the ischemic (P = 0.3) or hemorrhagic (P = 1.0) complication rates between the group of patients with MMS and the non-MMS groups. Conclusion. The risk of a neurologic complication from cerebral angiography in children with MMS is low and not statistically different from the risk in children with other cerebrovascular disorders. PMID:9799310

  8. Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome

    PubMed Central

    Lee, Jin Sook; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Hwang, Yong Seung

    2016-01-01

    Background and Purpose Few studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression and neurological outcome. Methods Thirty-nine patients who had been diagnosed with LS at the Seoul National University Children's Hospital were included. Their medical records, neuroimaging findings, and histological/biochemical findings of skeletal muscle specimens were reviewed. Targeted sequencing of mitochondrial DNA was performed based on mitochondrial respiratory chain (MRC) enzyme defects. Results Isolated complex I deficiency was the most frequently observed MRC defect (in 42% of 38 investigated patients). Mitochondrial DNA mutations were identified in 11 patients, of which 81.8% were MT-ND genes. The clinical outcome varied widely, from independent daily activity to severe disability. Poor functional outcomes and neurological deterioration were significantly associated with early onset (before an age of 1 year) and the presence of other lesions additional to basal ganglia involvement in the initial neuroimaging. Conclusions The neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies. We suggest that age at onset and initial neuroimaging findings are prognostic indicators in LS. PMID:27074294

  9. Sturge-Weber syndrome with spontaneous intracerebral hemorrhage in childhood.

    PubMed

    Nakajima, Madoka; Sugano, Hidenori; Iimura, Yasushi; Higo, Takuma; Nakanishi, Hajime; Shimoji, Kazuaki; Karagiozov, Kostadin; Miyajima, Masakazu; Arai, Hajime

    2014-01-01

    A girl aged 2 years 10 months suddenly went into a deep coma and demonstrated left hemiplegia. At birth, she had exhibited a left-sided facial port-wine stain typical of Sturge-Weber syndrome (SWS) and involving the V1 and V2 distributions of the trigeminal nerve. Computed tomography showed a right thalamic hemorrhage with acute hydrocephalus. Magnetic resonance imaging with Gd enhancement 8 months before the hemorrhage had shown a patent superior sagittal sinus (SSS) and deep venous system. Magnetic resonance imaging and MR angiography studies 2 months before the hemorrhage had revealed obstruction of the SSS and right internal cerebral vein (ICV). Given that a digital subtraction angiography study obtained after the hemorrhage did not show the SSS or right ICV, the authors assumed that impaired drainage was present in the deep venous system at that stage. The authors speculated that the patient's venous drainage pattern underwent compensatory changes because of the occluded SSS and deep venous collectors, shifting outflow through other cortical venous channels to nonoccluded dural sinuses. Sudden congestion (nearly total to total obstruction) of the ICV may have caused the thalamic hemorrhage in this case, which is the first reported instance of pediatric SWS with intracerebral hemorrhage and no other vascular lesion. Findings suggested that the appearance of major venous sinus occlusion in a child with SWS could be a warning sign of hemorrhage. PMID:24160667

  10. Childhood allergic bronchopulmonary aspergillosis presenting as a middle lobe syndrome.

    PubMed

    Shah, Ashok; Gera, Kamal; Panjabi, Chandramani

    2016-01-01

    Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS. PMID:26844222

  11. 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

  12. Hyperlipidemic profiles during remission in childhood idiopathic nephrotic syndrome.

    PubMed

    Mérouani, A; Lévy, E; Mongeau, J-G; Robitaille, P; Lambert, M; Delvin, E E

    2003-10-01

    Hyperlipidemia, an important characteristic of idiopathic nephrotic syndrome in children (NS), is usually observed during the active phase of the disease and disappears with the resolution of the proteinuria. However, persisting lipid anomalies during remission have been reported in a few studies and raise the question of the later development of atherosclerosis. Plasma lipid profiles in 25 children with NS at remission, with or without active prednisone treatment, were compared with those of an age-matched population. The results indicate that plasma total and LDL-cholesterol levels were above the 95(th) percentile for age and sex in 12 of the 25 patients (48%) with 7 of them having apolipoprotein B and triglyceride concentrations above the 95(th) percentile. Moreover, frequently relapsing children were more likely to have abnormal lipid profile during the remission. We conclude that close monitoring of lipid levels during the remission of the NS especially in those with frequent relapses, is necessary to select the high-risk patients. PMID:14563452

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

    PubMed

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

    1991-01-01

    Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. Patients came from a variety of separate clinical settings and geographical locations and reported a number of similar abuses. The most frequently reported types of ritual abuse are outlined, and a clinical syndrome is presented which includes dissociative states with satanic overtones, severe post-traumatic stress disorder, survivor guilt, bizarre self abuse, unusual fears, sexualization of sadistic impulses, indoctrinated beliefs, and substance abuse. Questions relating to issues of reliability, credibility and verifiability are addressed in depth, and the findings and implications are discussed. PMID:2043970

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

    PubMed

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

    2015-09-01

    Sudden infant death syndrome (SIDS) is a multifactorial syndrome and assumingly, among other mechanisms, a deficit in respiratory control leads to a failure of arousal and autoresuscitation when the child is challenged by a stressful homeostatic event, e.g., hypoxia. We hypothesize that genetic polymorphisms involved in respiratory control mediated in the medulla oblongata contribute to SIDS. Therefore, a total of 366 SIDS cases and 421 controls were genotyped for 48 SNPs in 41 candidate genes. Genotyping was performed using Fluidigm nanofluidic technology. Results were obtained for 356 SIDS and 406 controls and 38 SNPs. After correction for multiple testing, one SNP retained a nominally significant association with seasonal SIDS: rs1801030 in the phenol sulfotransferase 1A1 gene (subgroup: death occurring during summer). A borderline association could be also observed for rs563649 in the opioid receptor μ1 gene in a recessive model (subgroup: death occurring during autumn). As a conclusion, although these data suggest two SNPs to be associated with different subgroups of SIDS cases, none of them can fully explain the SIDS condition, consistent with its multifactorial etiology. Given the great complexity of respiratory control and our initial findings reported here, we believe it is worthwhile to further investigate genes involved in the respiratory system. PMID:26198620

  15. 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. PMID:22125120

  16. 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

  17. Computer polygraphic system for infants at risk for sudden infant death syndrome (SIDS).

    PubMed

    Dove, R; Brown, J; Fright, R; Tuffnell, C; Ford, R

    1990-12-01

    We have designed and developed a suite of equipment for polygraphic assessment of infants thought to be at risk for Sudden Infant Death Syndrome. A range of commercially available and custom made instrumentation is used to monitor cardio-respiratory function and thermal activity. The PC based system records continuous overnight trends and is able to detect apnoea, bradycardia, tachycardia, oxygen desaturation and other significant clinical events, producing summary data and graphs at the conclusion of the monitoring. The system is fully interactive and adaptable to various clinical and research requirements. PMID:2285374

  18. 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

  19. List-learning and verbal memory profiles in childhood epilepsy syndromes.

    PubMed

    Schraegle, William A; Nussbaum, Nancy L; Stefanatos, Arianna K

    2016-09-01

    Findings of material-specific influences on memory performance in pediatric epilepsy are inconsistent and merit further investigation. This study compared 90 children (aged 6years to 16years) with childhood absence epilepsy (CAE), frontal lobe epilepsy (FLE), and temporal lobe epilepsy (TLE) to determine whether they displayed distinct list-learning and verbal memory profiles on the California Verbal Learning Test - Children's Version (CVLT-C). Group comparison identified greater risk of memory impairment in children with TLE and FLE syndromes but not for those with CAE. While children with TLE performed worst overall on Short Delay Free Recall, groups with TLE and FLE performed similarly on Long Delay Free Recall. Contrast indices were then employed to explore these differences. Children with TLE demonstrated a significantly greater retroactive interference (RI) effect compared with groups with FLE and CAE. Conversely, children with FLE demonstrated a significantly worse learning efficiency index (LEI), which compares verbal memory following repetition with initial recall of the same list, than both children with TLE and CAE. These findings indicated shallow encoding related to attentional control for children with FLE and retrieval deficits in children with TLE. Finally, our combined sample showed significantly higher rates of extreme contrast indices (i.e., 1.5 SD difference) compared with the CVLT-C standardization sample. These results underscore the high prevalence of memory dysfunction in pediatric epilepsy and offer support for distinct patterns of verbal memory performance based on childhood epilepsy syndrome. PMID:27484747

  20. Caudate volumes in childhood predict symptom severity in adults with Tourette syndrome

    PubMed Central

    Bloch, Michael H.; Leckman, James F.; Zhu, Hongtu; Peterson, Bradley S.

    2008-01-01

    Background Most children with Tourette syndrome (TS) experience a marked decline in the severity of tic symptoms during adolescence. Currently no clinical measures can predict whose tic symptoms will persist into adulthood. Previous cross-sectional imaging studies have identified reduced caudate nucleus volumes in subjects with TS. Objective To evaluate whether caudate nucleus volumes in childhood can predict the severity of tic or obsessive–compulsive symptoms at follow-up in early adulthood. Methods In a prospective longitudinal study, clinical status and basal ganglia volumes of 43 children with TS were measured on high-resolution magnetic resonance images before age 14 years. Follow-up clinical assessments were conducted after age 16 years, an average of 7.5 years later. Linear regression and Tobit regression analyses were used to assess the association of basal ganglia volumes measured in childhood with the severity of tic and obsessive–compulsive disorder (OCD) symptoms at the time of childhood MRI and at follow-up in early adulthood. Results Volumes of the caudate nucleus correlated significantly and inversely with the severity of tic and OCD symptoms in early adulthood. Caudate volumes did not correlate with the severity of symptoms at the time of the MRI scan. Conclusions Caudate volumes in children with Tourette syndrome predict the severity of tic and obsessive–compulsive symptoms in early adulthood. This study provides compelling evidence that morphologic disturbances of the caudate nucleus within cortico-striatal-thalamo-cortical circuits are central to the persistence of both tics and obsessive–compulsive symptoms into adulthood. PMID:16247053

  1. Bottlenecks, barriers, and solutions: results from multicountry consultations focused on reduction of childhood pneumonia and diarrhoea deaths.

    PubMed

    Gill, Christopher J; Young, Mark; Schroder, Kate; Carvajal-Velez, Liliana; McNabb, Marion; Aboubaker, Samira; Qazi, Shamim; Bhutta, Zulfiqar A

    2013-04-27

    Millions of children still die unnecessarily from pneumonia and diarrhoea, mainly in resource-poor settings. A series of collaborative consultations and workshops involving several hundred academic, public health, governmental and private sector stakeholders were convened to identify the key barriers to progress and to issue recommendations. Bottlenecks impairing access to commodities included antiquated supply management systems, insufficient funding for drugs, inadequate knowledge about interventions by clients and providers, health worker shortages, poor support for training or retention of health workers, and a failure to convert national policies into action plans. Key programmatic barriers included an absence of effective programme coordination between and within partner organisations, scarce financial resources, inadequate training and support for health workers, sporadic availability of key commodities, and suboptimal programme management. However, these problems are solvable. Advocacy could help to mobilise needed resources, raise awareness, and prioritise childhood pneumonia and diarrhoea deaths in the coming decade. PMID:23582720

  2. Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study.

    PubMed

    Doose, H; Hahn, A; Neubauer, B A; Pistohl, J; Stephani, U

    2001-02-01

    Atypical benign partial epilepsy of childhood (ABPE = Pseudo-Lennox syndrome) shows semiologic parallels to Lennox-Gastaut syndrome, however--besides the lack of tonic seizures--it has an entirely different etiology and prognosis. Recently Hahn et al [17] investigated the long-term evolution of 43 cases with ABPE. Symptomatology, EEG findings, and course were found to overlap with Rolandic epilepsy, Landau-Kleffner syndrome and ESES. The incidence of seizures in relatives was determined in the whole series investigated by Hahn et al [17]. Five of 56 siblings suffered from seizures (3 Rolandic seizures; one febrile convulsions; one unclassified). Three fathers reported grand mal. In 29 families of the series of Hahn et al EEG recordings were performed: 22 brothers, 19 sisters and 16 pairs of parents. In 29% of the siblings a sharp wave focus was demonstrable. The rate rose to 40% when only siblings investigated at the age of maximum expression (3 to 10 years) were considered. Sharp wave foci were mostly multifocal and indistinguishable from those observed in siblings of children with Rolandic epilepsy. Photoparoxysmal response and generalized spikes and waves during rest and hyperventilation were also found to be significantly elevated (26% and 13% respectively). We conclude that ABPE is a subgroup of idiopathic partial epilepsy of childhood (representing a less benign part of a spectrum) that has to be ranked in a continuum with Rolandic epilepsy. The different clinical phenotype might be caused by a higher expressivity of the identical genetic trait, possibly facilitated by other genetic or acquired factors. Genetic heterogeneity represents another possibility. PMID:11315204

  3. Risk factors for early death in transient myeloproliferative disorder without phenotypic features of Down syndrome: a case report and literature review.

    PubMed

    Kawase, Koya; Azuma, Eiichi; Ohshita, Hironori; Tanaka, Tatsushi; Hanada, Yu; Sasaki, Tomoaki; Sugimoto, Mari; Togawa, Takao; Kouwaki, Masanori; Ito, Tsuyoshi; Hirayama, Masahiro; Koyama, Norihisa

    2012-08-01

    Not only in newborns with Down syndrome, but newborns without phenotypic features of Down syndrome also develop transient myeloproliferative disorder (TMD). In these cases, trisomy 21 and related chromosomal abnormalities are either constitutionally mosaic or limited to blood cells. Risk factors for early death of these patients are unknown so far. We here report a fatal case of TMD without phenotypic features of Down syndrome and review literature to identify risk factors associated with early death. Not only are gestational age and white blood cell count risk factors for early death in TMD with Down syndrome, but they also appear to be risk factors in TMD without Down syndrome. PMID:22510770

  4. Maternal recall of symptoms associated with childhood deaths in rural east Africa.

    PubMed

    Snow, R W; Basto de Azevedo, I; Forster, D; Mwankuyse, S; Bomu, G; Kassiga, G; Nyamawi, C; Teuscher, T; Marsh, K

    1993-08-01

    Verbal autopsies (VA) are frequently used to determine causes of death for individuals for whom there is no reliable clinical information regarding the terminal illness. VA interviews are used to note key symptoms and signs recalled by relatives of the deceased and diagnoses ascribed according to the symptom complexes. The VA technique assumes that individual disease entities have discrete symptom complexes and that these can be accurately recognized and recalled by the interviewees. We have examined the accuracy with which specific symptoms are recalled over time by mothers or normal guardians of 491 children who died on the paediatric wards of two district hospitals in East Africa. Kwashiorkor, measles, trauma, generalized convulsions and neonatal tetanus were all reported with a high degree of accuracy for children who died of these conditions and had low false positive rates for children without these conditions. Recall was similar within 1 month of death compared to recall after 6 months for most symptoms and signs except neonatal tetanus where false positive reports by mothers increased with time since death. Symptoms and signs commonly used to describe malaria, respiratory tract and diarrhoea-related deaths were reported by mothers to have been present during the terminal illness in 43% of cases where these features were absent. Recall abilities differed between the two communities studied for some symptoms and signs highlighting the importance of such studies in every setting where VA are applied. PMID:8225743

  5. 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…

  6. Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome

    PubMed Central

    Brunner, Michael; Peng, Xuwen; Liu, Gong Xin; Ren, Xiao-Qin; Ziv, Ohad; Choi, Bum-Rak; Mathur, Rajesh; Hajjiri, Mohammed; Odening, Katja E.; Steinberg, Eric; Folco, Eduardo J.; Pringa, Ekatherini; Centracchio, Jason; Macharzina, Roland R.; Donahay, Tammy; Schofield, Lorraine; Rana, Naveed; Kirk, Malcolm; Mitchell, Gary F.; Poppas, Athena; Zehender, Manfred; Koren, Gideon

    2008-01-01

    Long QT syndrome (LQTS) is a heritable disease associated with ECG QT interval prolongation, ventricular tachycardia, and sudden cardiac death in young patients. Among genotyped individuals, mutations in genes encoding repolarizing K+ channels (LQT1:KCNQ1; LQT2:KCNH2) are present in approximately 90% of affected individuals. Expression of pore mutants of the human genes KCNQ1 (KvLQT1-Y315S) and KCNH2 (HERG-G628S) in the rabbit heart produced transgenic rabbits with a long QT phenotype. Prolongations of QT intervals and action potential durations were due to the elimination of IKs and IKr currents in cardiomyocytes. LQT2 rabbits showed a high incidence of spontaneous sudden cardiac death (>50% at 1 year) due to polymorphic ventricular tachycardia. Optical mapping revealed increased spatial dispersion of repolarization underlying the arrhythmias. Both transgenes caused downregulation of the remaining complementary IKr and IKs without affecting the steady state levels of the native polypeptides. Thus, the elimination of 1 repolarizing current was associated with downregulation of the reciprocal repolarizing current rather than with the compensatory upregulation observed previously in LQTS mouse models. This suggests that mutant KvLQT1 and HERG interacted with the reciprocal wild-type α subunits of rabbit ERG and KvLQT1, respectively. These results have implications for understanding the nature and heterogeneity of cardiac arrhythmias and sudden cardiac death. PMID:18464931

  7. Medullary Serotonin Defects and Respiratory Dysfunction in Sudden Infant Death Syndrome

    PubMed Central

    Paterson, David S; Hilaire, Gerard; Weese-Mayer, Debra E

    2009-01-01

    Sudden infant death syndrome (SIDS) is defined as the sudden and unexpected death of an infant less than 12 months of age that occurs during sleep and remains unexplained after a complete autopsy, death scene investigation, and review of the clinical history. It is the leading cause of postneonatal mortality in the developed world. The cause of SIDS is unknown, but is postulated to involve impairment of brainstem-mediated homeostatic control. Extensive evidence from animal studies indicates that serotonin (5-HT) neurons in the medulla oblongata play a role in the regulation of multiple aspects of respiratory and autonomic function. A subset of SIDS infants have several abnormalities in medullary markers of 5-HT function and genetic polymorphisms impacting the 5-HT system, informing the hypothesis that SIDS results from a defect in 5-HT brainstem-mediated control of respiratory (and autonomic) regulation. Here we review the evidence from postmortem human studies and animal studies to support this hypothesis and discuss how the pathogenesis of SIDS is likely to originate in utero during fetal development. PMID:19481178

  8. Metabolic Syndrome in Childhood: Rare Case of Alstrom Syndrome with Blindness.

    PubMed

    Ahmad, Afzal; D'Souza, Benedicta; Yadav, Charu; Agarwal, Ashish; Kumar, Anand; Nandini, M; D'Souza, Vivian; Poornima, A M; Kamath, Nutan

    2016-10-01

    Alstrom's syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It's a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age. PMID:27605748

  9. [Parental death in childhood: the state of theoretical knowledge and clinical challenges in the future].

    PubMed

    Mentec, Margaux; Flahault, Cécile

    2015-03-01

    Although children's psychological adaptation to parental cancer is a wide field for psycho-oncological research, few empirical studies target children bereavement specifically following parental cancer. In this paper, our purpose is to make a state of art about literature concerning parental death. Literature dealing with grief concerns psychopathological consequences of parental loss and most recently post-traumatic growth. Although references about support programs have emerged, few of these programs have been scientifically evaluated. This review underlines that more studies are needed with prospective quantitative and qualitative studies, in order to describe more precisely children bereavement process and long term effects of bereavement. Psychological support for other family members and evaluation of support programs seem to be critical to improve children adaptation to parental death. PMID:25732046

  10. 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. PMID:17187536

  11. 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

  12. 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)

  13. Reversible posterior leukoencephalopathy syndrome in childhood: report of nine cases and review of the literature.

    PubMed

    Gümüş, Hakan; Per, Hüseyin; Kumandaş, Sefer; Yikilmaz, Ali

    2010-04-01

    Reversible posterior leukoencephalopathy syndrome (RPLS) is recently described disorder with typical radiological findings in the posterior regions of the cerebral hemisphere and cerebellum. Its clinical symptoms include headache, decreased alertness, mental abnormalities, such as confusion, diminished spontaneity of speech, and changed behavior ranging from drowsiness to stupor, seizures, vomiting and abnormalities of visual perception like cortical blindness. RPLS is caused by various heterogeneous factors, the commonest being hypertension, followed by non-hypertensive causes such as eclampsia, renal diseases and immunosuppressive therapy. We presented nine patients with RPLS who had primary diagnoses such as acute post-streptococcal glomerulonephritis, idiopathic hypertension, the performing of intravenous immunoglobulin for infection with crescentic glomerulonephritis, erythrocyte transfusion for severe iron deficiency, L: -asparaginase treatment for acute lymphoblastic leukemia and performing of granulocyte-colony stimulating factor for ulcerative colitis due to neutropenia. Early recognition of RPLS as complication during different diseases and therapy in childhood may facilitate precise diagnosis and appropriate treatment. PMID:19809787

  14. [Markers of metabolic syndrome and peptides regulating metabolism in survivors of childhood acute lymphoblastic leukemia].

    PubMed

    Skoczeń, Szymon; Tomasik, Przemysław; Balwierz, Walentyna; Surmiak, Marcin; Sztefko, Krystyna; Galicka-Latała, Danuta

    2011-01-01

    Along with the growing epidemic of overweight the risk of atherosclerosis, cardiovascular disease morbidity and mortality are increasing markedly. Metabolic syndrome (MS) is a condition clustering together several risk factors of those complications such as visceral obesity, glucose intolerance, arterial hypertension and dislipidemia. The risk of obesity in acute lymphoblastic leukemia (ALL) survivors is higher than in general population. We aimed to assess (1) the relationships between chosen adipokines and neuropeptides, chemotherapy, CRT, and body fatness and (2) evaluate adipokines and neuropeptides concentrations as a new markers of MS in children. We conducted cross-sectional evaluation of 82 ALL survivors (median age: 13.2 years; range: 4,8-26,2; median time from treatment: 3.2 years), including fasting laboratory testing: peptides (leptin, GLP-1, orexin, PYY, apelin), total cholesterol and its fractions, triglycerides; anthropometric measurements (weight, height), systolic and diastolic blood pressure. We estimated percentiles of body mass index and percentiles of blood pressure. Between 82 survivors overweight and diastolic hypertension was diagnosed in 31% of patients (35% in CRT group) and 15% respectively. At least one abnormality in lipids concentrations was found in 43%. Girls were more affected than boys. Statistically significant increased in leptin and apelin concentrations and decreased in soluble leptin receptor concentrations in the overweight group were observed compared to the non overweight subjects. Significant increase in orexin levels in females who had received CRT compared to those who had not received CRT was found. CRT is the main risk factor of elevated of body mass among survivors of childhood leukemia. Dyslipidemia and hypertension, along with increased adiposity indicate higher risk of MS development. Girls are more affected than boys. Leptin, orexin and apelin seem to be good markers of increased adiposity especially after CRT

  15. Treatment-related deaths in second complete remission in childhood acute myeloid leukaemia.

    PubMed

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

    2011-03-01

    The frequency and causes of treatment-related deaths (TRD) in second complete remission (CR2) in acute myeloid leukaemia (AML) were investigated in a historical, prospective cohort study of 429 children included in the Nordic Society of Paediatric Haematology and Oncology (NOPHO)-AML-88 and -93 trials. Relapse occurred in 158 children (39%). Seventeen (18%) of the 96 patients entering CR2 suffered TRD. The main causes were infection (59%) and complications from graft-versus-host disease (22%). Fourteen (82%) of 17 TRDs occurred in children undergoing haematopoietic stem cell transplantations (HSCT). Optimal supportive care after HSCT is essential, and studies on risk factors for TRD are needed. PMID:21241281

  16. 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. PMID:27019936

  17. 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. PMID:16918783

  18. Interleukin-2 as a neuromodulator possibly implicated in the physiopathology of sudden infant death syndrome.

    PubMed

    Kadhim, Hazim; Deltenre, Paul; De Prez, Carine; Sébire, Guillaume

    2010-08-16

    Dysfunction in vital brainstem centers, including those controlling cardiorespiratory- and sleep/arousal pathophysiology, is reported in sudden infant death syndrome (SIDS). Biological mechanisms underlying SIDS, however, remain unclear. Cytokines are inter-cellular signaling chemicals. They can interact with neurotransmitters and might thus modify neural and neuroimmune functions. Cytokines could therefore act as neuromodulators. Interleukin (IL)-2 is a major immune-related cytokine. It has not been previously depicted in vital brainstem centers. We detected intense neuronal IL-2 immune-reactivity in the SIDS brainstem, namely in vital neural centers. This IL-2 overexpression might interfere with neurotransmitters in those critical brainstem centers, causing disturbed homeostatic control of cardiorespiratory and arousal responses, possibly leading to SIDS. PMID:20542085

  19. 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. PMID:25837796

  20. A case control study on autopsy findings in sudden unexplained nocturnal death syndrome

    PubMed Central

    Gervacio, G; Lim, M; Reganit, P; Encinas, M; Macapugay, L; Palmero, J; Nierras, C; De los Reyes, C; Geronimo, F

    2014-01-01

    Aim Sudden unexplained nocturnal death syndrome (SUNDS) has been linked to the Brugada syndrome. In some places, acute haemorrhagic pancreatitis is widely held to cause it. We conducted a systematic, controlled autopsy study on Filipino SUNDS victims to rule out structural heart findings as well as acute haemorrhagic pancreatitis as causes. Methods and results A case control autopsy study was conducted comparing SUNDS victims between 18 and 50 years of age who died within 1 h of symptom onset with age- and gender-matched controls. There were 24 SUNDS (mean age 34.5 years) and 24 controls (mean 32.7 years). The autopsy incidence of structural heart disease was 8.3% (95% CI (1% to 27%)) and focal pancreatic haemorrhage was 4.17% (95% CI (0.1% to 20%)) but zero for true acute haemorrhagic pancreatitis among SUNDS victims. Autopsy findings in SUNDS versus controls were not significantly different from each other, showing no diagnostic abnormality in any of the organs. There was no significant difference in the incidence of acute haemorrhagic pancreatitis in both the SUNDS and control groups. We did not find fetal dispersion of the atrioventricular (AV) node, sclerosis or fibrosis of the AV conduction system, in a substudy of SUNDS cases. Conclusions We have shown that there is no significant difference in the overall autopsy findings between SUNDS and controls. Autopsy findings were normal in 70% of SUNDS; no cardiac structural pathology was found in 87% of cases. Haemorrhagic pancreatitis is the cause of death in a minority of SUNDS. The cardiac conduction system is normal in a subgroup of SUNDS studied. PMID:27326155

  1. Kcne2 Deletion Creates a Multisystem Syndrome Predisposing to Sudden Cardiac Death

    PubMed Central

    Hu, Zhaoyang; Kant, Ritu; Anand, Marie; King, Elizabeth C.; Krogh-Madsen, Trine; Christini, David J.; Abbott, Geoffrey W.

    2014-01-01

    Background Sudden cardiac death (SCD) is the leading global cause of mortality, exhibiting increased incidence in diabetics. Ion channel gene perturbations provide a well-established ventricular arrhythmogenic substrate for SCD. However, most arrhythmia susceptibility genes - including the KCNE2 K+ channel β subunit - are expressed in multiple tissues, suggesting potential multiplex SCD substrates. Methods and Results Using “whole transcript” transcriptomics, we uncovered cardiac angiotensinogen upregulation and remodeling of cardiac angiotensinogen interaction networks in P21 Kcne2−/− mouse pups, and adrenal remodeling consistent with metabolic syndrome in adult Kcne2−/− mice. This led to the discovery that Kcne2 disruption causes multiple acknowledged SCD substrates of extracardiac origin: diabetes, hypercholesterolemia, hyperkalemia, anemia and elevated angiotensin II. Kcne2 deletion was also prerequisite for aging-dependent QT prolongation, ventricular fibrillation and SCD immediately following transient ischemia, and fasting-dependent hypoglycemia, myocardial ischemia and atrioventricular block. Conclusions Disruption of a single, widely expressed arrhythmia susceptibility gene can generate a multisystem syndrome comprising manifold electrical and systemic substrates and triggers of SCD. This paradigm is expected to apply to other arrhythmia susceptibility genes, the majority of which encode ubiquitously expressed ion channel subunits or regulatory proteins. PMID:24403551

  2. Transcriptome analysis of Fusarium virguliforme provides additional evidence of toxins that contribute to foliar symptoms of soybean sudden death syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Toxins produced by the soil-borne fungus, Fusarium virguliforme, cause foliar symptoms in soybean. The disease in soybean is referred to as soybean sudden death syndrome (SDS). Three toxins produced by the fungus were reported to be associated with SDS foliar symptoms, but none produced identical S...

  3. Effect of fungicide seed treatments on Fusarium virguliforme infection of soybean and development of sudden death syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sudden death syndrome (SDS), caused by Fusarium virguliforme (Fv), is a major yield-limiting disease of soybean in North America. Infection of soybean seedling roots by Fv results in severe root damage; therefore, fungicide seed treatments could potentially reduce these early-season infections and r...

  4. Ligninolytic Activity of Fusarium virguliforme (SYN. F. solani f. sp. glycines), the Causal Agent of Soybean Sudden Death Syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium virguliforme (syn. F. solani f. sp. glycines), a soil-borne fungus, is the causal agent of soybean sudden death syndrome (SDS), one of the most important diseases of soybean. Lignin degradation is not common in most soilborne fungi which are considered to be cellulose degraders only. In thi...

  5. Restraint related deaths and excited delirium syndrome in Ontario (2004-2011).

    PubMed

    Michaud, Alain

    2016-07-01

    Restraint related death in individuals in excited delirium syndrome (ExDS) is a rare event that has been the subject of controversies for more than 3 decades. The purpose of this retrospective study was to retrieve data on all restraint related deaths (RRD) that occurred in Ontario during an 8-year period and compare them with an earlier study on RRD in ExDS covering the period 1988-1995 in Ontario. The Office of the Chief Coroner of Ontario website was consulted under verdicts and recommendations. The Canadian Legal Information Institute website was used to consult verdict explanations and coroner's summary of evidence. During the period 2004-2011, RRD occurred in 14 individuals in ExDS, a 33% reduction. Psychiatric illness as a cause of ExDS decreased from 57% to 14%. Cocaine was the cause of ExDS in 11 (79%) individuals. The number of RRD following a violent encounter in cocaine-induced ExDS (8) was identical in the 2 periods. RRD occurred in 6 individuals without ExDS following a violent encounter. Final restraint position preceding cardiorespiratory arrest was available in 36% of individuals with ExDS and 83% of individuals without ExDS. In both groups, cardiorespiratory arrests could be classified as immediate or delayed. All 4 individuals without ExDS who had immediate cardiorespiratory arrests were restrained in the prone position. Delayed cardiorespiratory arrest occurred in the non-prone position in both groups. Although many hypotheses may be put forward to explain changes in the epidemiology of RRD in ExDS in Ontario, multiple warnings and recommendations from coroners' inquests cannot be ignored. There is probably not a unique pathophysiological pathway leading to cardiorespiratory arrest in RRD. The death rate in RRD in ExDS is so low that drawing any conclusions based on statistical studies or on isolated case report could be hazardous. PMID:27126837

  6. Sudden unexplained nocturnal death syndrome in southern China: epidemiological survey and SCN5A gene screening

    PubMed Central

    Cheng, Jianding; Makielski, Jonathan C.; Yuan, Ping; Shi, Nianqing; Zhou, Feng; Ye, Bin; Tan, Bi-Hua; Kroboth, Stacie; Tang, Shuangbo; Lu, Ciyong

    2010-01-01

    Based on autopsy data collected in Southern China from 2001–2006, 975 cases of sudden unexplained nocturnal death syndrome (SUNDS) were surveyed. Genetic screening of SCN5A, the gene encoding the voltage dependent cardiac Na channel, was performed in 74 available SUNDS cases. The annual occurrence rate of SUNDS in the area was estimated to be 1 per 100,000 people. 80.6% of deaths occurred between the ages of 21 to 40 years and the case number peaked at age 30 years. In 75.4% of cases where witnesses were present, victims died in their sleep between 11 PM and 4 AM and many showed abrupt respiratory distress shortly preceding death. The monthly distribution of emergency fever cases in the area during the same period was positively correlated to that of SUNDS cases (rs = 0.611, P = 0.0025). Four polymorphisms in SCN5A were identified in both SUNDS and control groups. Compared with controls, the allele frequency of C5457 and C3666+69 were significant higher in SUNDS (P<0.005) while the genotypes of both 5457CC (P=0.012, OR=2.0, 95% CI=1.3–3.2) and 3666+69CC (P=0.004, OR=2.1, 95% CI=1.3–3.3) in SUNDS cases were significantly higher. This is the first report of an epidemiological survey and SCN5A gene screening in SUNDS in the Han population of China. The genotypes of 5457CC and 3666+69CC in SCN5A gene may be Chinese SUNDS susceptible polymorphisms. PMID:20110800

  7. Childhood stunting and the metabolic syndrome components in young adults from a Brazilian birth cohort study

    PubMed Central

    Grillo, L P; Gigante, D P; Horta, B L; de Barros, F C F

    2016-01-01

    Background/Objectives: The aim of this study was to investigate the association between stunting in the second year of life and metabolic syndrome components in early adulthood among subjects who have been prospectively followed-up since birth, in a city in Southern Brazil. Subjects/Methods: In 1984, we attempted to follow-up the entire cohort; the subjects were examined and their mothers interviewed. Stunting was defined by a length-for-age Z-score 2 s.d. or more below the mean, in accordance with the World Health Organization reference. Between 2004 and 2005, we again tried to follow the entire cohort; during this period the subjects were evaluated for the following metabolic syndrome components: high-density lipoprotein (HDL) cholesterol, triglycerides, random blood glucose, waist circumference and systolic and diastolic blood pressure. Family income at the time of the baby's birth, asset index, mother's education, mother's smoking during pregnancy and duration of breastfeeding were considered possible confounders. Linear regression was used in the unadjusted and adjusted analyses. Results: Among men, stunting was inversely associated with triglycerides (β=−11.90, confidence interval (CI)=−22.33 to −1.48) and waist circumference (β=−4.29, CI=−5.62 to −2.97), whereas for women stunting was negatively related to HDL-cholesterol (β=−4.50, CI=−6.47 to −2.52), triglycerides (β=−9.61, CI=−17.66 to −1.56) and waist circumference (β=−1.14, CI=−4.22 to −1.02). However, after controlling for confounding variables, these associations vanished. Conclusions: The findings suggest that stunting in childhood is not associated with metabolic syndrome components in young adults. PMID:26733042

  8. Long-term Impact of Childhood Adiposity on Adult Metabolic Syndrome Is Modified by Insulin Resistance: The Bogalusa Heart Study

    PubMed Central

    Zhang, Huijie; Zhang, Tao; Li, Shengxu; Li, Ying; Hussain, Azad; Fernandez, Camilo; Harville, Emily; Bazzano, Lydia A.; He, Jiang; Chen, Wei

    2015-01-01

    Childhood adiposity and insulin resistance are well-known risk factors for adult metabolic syndrome (MetS). This study aims to examine whether the association between childhood adiposity and adult MetS is modified by insulin resistance. The cohort consisted of 1,593 black and white subjects, aged 19–50 years at follow-up, who were examined 19 years apart on average as children and adults for MetS variables. The prevalence of adult MetS was compared between the insulin-sensitive obesity and insulin-resistant obesity groups in childhood. Adult MetS prevalence was higher in the insulin-resistant obesity group than in the insulin-sensitive obesity group (34.9% vs. 24.3%, p = 0.008). In multivariable logistic regression analyses adjusted for age, race, gender, and follow-up years, individuals with insulin-resistant obesity in childhood were 1.7 times (p = 0.011) more likely to have MetS 19 years later on average than those with insulin-sensitive obesity in childhood. Odds ratio did not differ significantly between blacks and whites (p = 0.724). ORs for the association of childhood BMI with adult MetS significantly increased with increasing tertiles of childhood HOMA (p < 0.001 for trend). These findings suggest that insulin resistance amplifies the association between childhood adiposity and adult MetS and underscore the importance of preventing both adiposity and insulin resistance in early life. PMID:26640243

  9. The risk of cardiovascular disease in adults who have had childhood nephrotic syndrome.

    PubMed

    Lechner, Brent Lee; Bockenhauer, Detlef; Iragorri, Sandra; Kennedy, Thomas Lyle; Siegel, Norman Joseph

    2004-07-01

    While increased risk of cardiovascular disease (CVD) in patients with hyperlipidemia, chronic kidney disease (CKD), or end-stage renal disease (ESRD) is well documented, transient hyperlipidemia or intermittent renal disease as a consequence of relapsing nephrotic syndrome (NS) has not been studied. To investigate this enigma, 62 patients, between 25 and 53 years of age, who had steroid-responsive/dependent NS during childhood, were identified from the records of the Division of Pediatric Nephrology at Yale School of Medicine. Forty patients were located and contacted to ascertain symptoms or occurrences of CVD via a telephone interview. At the time of follow-up, 23-46 years after cessation of NS, none of these patients had ESRD or CKD. Three patients had experienced a myocardial infarction (MI): a 32-year-old male with a family history of CVD; a 41-year-old male with a history of heavy smoking, hypertension, diabetes mellitus, and elevated cholesterol; a 31-year-old male after a cocaine overdose. The occurrence of events (8%) and mortality from CVD (none) in this cohort of patients is comparable to patients of a similar age in the general population and is lower than that of patients of the same age who are on dialysis. The data suggest that relapsing NS during childhood does not place patients at increased risk for CVD mortality or morbidity compared with the general population. Consequently, it would appear that factors related to persistent proteinuria or renal insufficiency, rather than transient proteinuria and renal disease, contribute to the CVD documented in patients with CKD or ESRD. PMID:15085419

  10. 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…

  11. UK survey of broiler ascites and sudden death syndromes in 1993.

    PubMed

    Maxwell, M H; Robertson, G W

    1998-05-01

    1. The mean incidence of deaths from ascites in the UK in 1993 was 1.4% (0.7% in 1991 and 0.9% in 1992) and 0.8% from sudden death syndrome (SDS). In total, the economic loss to the UK Broiler Industry in 1993 as a result of these 2 conditions was 24 Pounds M. 2. Clear geographical differences emerged in the occurrence of ascites, with, not only the lowest incidences being observed in Northern Ireland, but also the peak of the mortality from ascites occurring much later in the rearing cycle than in other regions on the mainland. 3. In all regions the incidence of SDS was lower than that of ascites but the reason for this disparity remains to be established. 4. Some of the variables associated with the road transportation of day-old chicks from the hatchery to the farm appeared to influence the incidence of ascites. These included distance or time travelled, stocking density, internal lorry temperature and the length of time the lorry was heated before transport as well as the time the shed was heated before chick arrival. Temperature was also an important factor during growth (brooding and finishing). 5. Negative pressure-powered ventilation was preferred in most organisations but more ascites was seen with positive pressure ventilation. However, the lowest incidence of ascites occurred with natural ventilation. There was more ascites relative to shed orientation when the wind direction was from the west compared to the east. 6. This survey identifies the extent of the problem of broiler ascites in the UK and also highlights the importance of good management control of day-old chicks, not only following placement, but even before their arrival on the farm. PMID:9649872

  12. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

    PubMed

    Yahyaoui, Raquel; Espinosa, María Gracia; Gómez, Celia; Dayaldasani, Anita; Rueda, Inmaculada; Roldán, Ana; Ugarte, Magdalena; Lastra, Gonzalo; Pérez, Vidal

    2011-11-01

    Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism. PMID:21641254

  13. Using a pacifier to decrease sudden infant death syndrome: an emergency department educational intervention.

    PubMed

    Walsh, Paul; 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

  14. Transcriptional analysis of soybean root response to Fusarium virguliforme, the causal agent of sudden death syndrome.

    PubMed

    Radwan, Osman; Liu, Yu; Clough, Steven J

    2011-08-01

    Sudden death syndrome (SDS) of soybean can be caused by any of four distinct Fusarium species, with F. virguliforme and F. tucumaniae being the main casual agents in North and South America, respectively. Although the fungal tissue is largely confined to the roots, the fungus releases a toxin that is translocated to leaf tissues, in which it causes interveinal chlorosis and necrosis leading to scorching symptoms and possible defoliation. In this study, we report on an Affymetrix analysis measuring transcript abundances in resistant (PI 567.374) and susceptible (Essex) roots upon infection by F. virguliforme, 5 and 7 days postinoculation. Many of the genes with increased expression were common between resistant and susceptible plants (including genes related to programmed cell death, the phenylpropanoid pathway, defense, signal transduction, and transcription factors), but some genotype-specific expression was noted. Changes in small (sm)RNA levels between inoculated and mock-treated samples were also studied and implicate a role for these molecules in this interaction. In total, 2,467 genes were significantly changing in the experiment, with 1,694 changing in response to the pathogen; 93 smRNA and 42 microRNA that have putative soybean gene targets were identified from infected tissue. Comparing genotypes, 247 genes were uniquely modulating in the resistant host, whereas 378 genes were uniquely modulating in the susceptible host. Comparing locations of differentially expressed genes to known resistant quantitative trait loci as well as identifying smRNA that increased while their putative targets decreased (or vice versa) allowed for the narrowing of candidate SDS defense-associated genes. PMID:21751852

  15. 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

  16. 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. PMID:26585738

  17. Inherited arrhythmia syndromes leading to sudden cardiac death in the young: A global update and an Indian perspective

    PubMed Central

    Chockalingam, Priya; Wilde, Arthur A.

    2014-01-01

    Inherited primary arrhythmias, namely congenital long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia, account for a significant proportion of sudden cardiac deaths in young and apparently healthy individuals. Genetic testing plays an integral role in the diagnosis, risk-stratification and treatment of probands and family members. It is increasingly obvious that collaborative efforts are required to understand and manage these relatively rare but potentially lethal diseases. This article aims to update readers on the recent developments in our knowledge of inherited arrhythmias and to lay the foundation for a national synergistic effort to characterize them in the Indian population. PMID:24568830

  18. 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. PMID:27070424

  19. The incidence of sudden infant death syndrome in North Carolina's cities and counties: 1972--1974.

    PubMed Central

    Blok, J H

    1978-01-01

    Between January 1, 1972 and December 31, 1974, 534 Sudden Infant Death Syndrome cases were reported in North Carolina. All but the out-of-state cases were mapped by county and city locations to determine if urban or rural cases predominated. The mapping was also undertaken to see if significant spatial variabilities could be detected between the county and city populations of infants at risk. The state had an overall SIDS rate of 2.06 per thousand live births. The mapping revealed that counties had a range from zero to a high of 6.6 and that cities with populations of over 10,000 had SIDS rates which ranged from zero to a high of 10.6. The proportions of SIDS cases occurring in either urban or rural locations roughly approximated the distribution of the state's population, with neither location accounting for disproportionately more cases. The larger cities, however, reported more cases than did their suburbs and the immediately surrounding rural areas. The largest and smallest cities, when grouped accordingly, had the lowest urban SIDS rates. The summary SIDS rates for whites was 1.23 per thousant live births, for blacks it was 3.75, and for Indians it was 6.56 per thousand live births. Images Figure 1 PMID:645982

  20. Sudden infant death syndrome and placental disorders: the thyroid-selenium link.

    PubMed

    Reid, G M; Tervit, H

    1997-04-01

    Placental insufficiency, inducing hypoxia-ischaemia, is considered a major cause of neuronal injury and impaired post natal development. Placental insufficiency alters the metabolism of arachidonic acid and its oxidation products. Premature labour and low-birth-weight infants are associated with reduced intrauterine blood-flow and infections of the reproductive tract. Thyroidal activity is depressed in undernutrition (placental insufficiency). Premature infants require extra vitamin C for normal tyrosine metabolism (tyrosine is the thyroxine precursor). Among the symptoms indicating infantile cretinism, which appear during 3-5 months of age are: delayed union of skull bones, torpid behaviour, slow feeding, cyanosis during feeding, excessive sleepiness, enlarged tongue, umbilical herniation, flabby musculature, short stature and delayed development. These symptoms have all been described in low-birth-weight infants and sudden infant death syndrome victims by various authors. Bacteria utilize selenium (at the expense of host tissue). Escherichia coli is among the bacteria invading the reproductive tract. E. coli produce thiouracil and are goitrogenic. Some strains of E. coli produce phospholipase A2 which releases arachidonic acid from phospholipids for prostaglandin synthesis. Phospholipase A2 is more active against peroxidized than non-peroxidized lipids. Bacterial competition for intrauterine selenium and goitrogenic bacterial infections of the reproductive tract during pregnancy, depress thyroid function in the fetus but not in the mother. PMID:9160285

  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. 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. PMID:15835252

  3. 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

  4. 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

  5. Sexual reproduction in the soybean sudden death syndrome pathogen Fusarium tucumaniae.

    PubMed

    Covert, S F; Aoki, T; O'Donnell, K; Starkey, D; Holliday, A; Geiser, D M; Cheung, F; Town, C; Strom, A; Juba, J; Scandiani, M; Yang, X B

    2007-08-01

    We investigated the sexual reproductive mode of the two most important etiological agents of soybean sudden death syndrome, Fusarium tucumaniae and Fusarium virguliforme. F. tucumaniae sexual crosses often were highly fertile, making it possible to assign mating type and assess female fertility in 24 South American isolates. These crosses produced red perithecia and oblong-elliptical ascospores, as is typical for sexual members of the F. solani species complex. Genotyping of progeny from three F. tucumaniae crosses confirmed that sexual recombination had occurred. In contrast, pairings among 17 U.S. F. virguliforme isolates never produced perithecia. Inter-species crosses between F. tucumaniae and F. virguliforme, in which infertile perithecia were induced only in one of the two F. tucumaniae mating types, suggest that all U.S. F. virguliforme isolates are of a single mating type. We conclude that the F. tucumaniae life cycle in S. America includes a sexual reproductive mode, and thus this species has greater potential for rapid evolution than the F. virguliforme population in the U.S., which may be exclusively asexual. PMID:17300967

  6. Hypoxic-ischaemic encephalopathy after near miss sudden infant death syndrome.

    PubMed

    Constantinou, J E; Gillis, J; Ouvrier, R A; Rahilly, P M

    1989-05-01

    Between 1982 and 1985, 14 infants aged 3-26 weeks presented with severe hypoxic episodes as a result of the 'near miss' sudden infant death syndrome (SIDS). They all had metabolic acidosis, cardiovascular instability, acute renal failure, ischaemic colitis, or acute neurological dysfunction. Investigation of the cause excluded infection and trauma, or a primary metabolic, pulmonary, cardiac, or seizure disorder. Seven infants were deeply comatose on admission, never regained consciousness, and died within 60 hours. A characteristic evolution of hypoxic-ischaemic encephalopathy not previously clearly described after near miss SIDS was seen in the seven who lived. Five of the seven were conscious within one hour of resuscitation and showed a striking interval of near normality before neurological deterioration that was characterised by status epilepticus, deep coma, and brain stem dysfunction from 36-96 hours after the event. A biphasic course was not apparent in the remaining two, each of whom was comatose on admission, though refractory seizures did develop. Computed tomograms of the brain more than a week after the event showed cortical infarction or cerebral atrophy. Six of the survivors, followed up from 16-55 months, have serious residual deficits including spastic quadriplegia, delayed development, cortical blindness, or infantile spasms. PMID:2730124

  7. Frontotemporal Dementia-Like Syndrome Following Recall of Childhood Sexual Abuse.

    PubMed

    Cohen, Lisa J; Brody, David

    2015-06-01

    Numerous psychopathological syndromes have been attributed to posttraumatic stress, both at the time of the trauma and many years later. To date, however, there is little literature on pseudodementia as a delayed traumatic stress response. The authors present a case history of a 50-year-old woman who developed severe cognitive impairment following retrieval of previously forgotten memories of childhood sexual abuse. Her cognitive condition deteriorated rapidly and dramatically. Neuropsychological assessment and clinical presentation led to a diagnosis of frontotemporal dementia (vs. corticobasal degeneration). Detailed neurologic and medical evaluations could not identify any underlying physical cause. Her condition progressively worsened over 9 months, at which point memantine, an N-methyl-D-aspartate receptor antagonist, was begun. The patient regained full functioning over the next year. Although an organic cause could not be ruled out, it was likely that recovery of traumatic memories was contributory to the patient's condition, as ongoing psychotherapy had begun 1 year into the course. If additional cases with similar presentations are reported, such cases would corroborate the notion that persistent, severe, and reversible cognitive impairment constitutes a previously unrecognized and atypical posttraumatic response. PMID:25991053

  8. Less efficient and costly processes of frontal cortex in childhood chronic fatigue syndrome

    PubMed Central

    Mizuno, Kei; Tanaka, Masaaki; Tanabe, Hiroki C.; Joudoi, Takako; Kawatani, Junko; Shigihara, Yoshihito; Tomoda, Akemi; Miike, Teruhisa; Imai-Matsumura, Kyoko; Sadato, Norihiro; Watanabe, Yasuyoshi

    2015-01-01

    The ability to divide one's attention deteriorates in patients with childhood chronic fatigue syndrome (CCFS). We conducted a study using a dual verbal task to assess allocation of attentional resources to two simultaneous activities (picking out vowels and reading for story comprehension) and functional magnetic resonance imaging. Patients exhibited a much larger area of activation, recruiting additional frontal areas. The right middle frontal gyrus (MFG), which is included in the dorsolateral prefrontal cortex, of CCFS patients was specifically activated in both the single and dual tasks; this activation level was positively correlated with motivation scores for the tasks and accuracy of story comprehension. In addition, in patients, the dorsal anterior cingulate gyrus (dACC) and left MFG were activated only in the dual task, and activation levels of the dACC and left MFG were positively associated with the motivation and fatigue scores, respectively. Patients with CCFS exhibited a wider area of activated frontal regions related to attentional resources in order to increase their poorer task performance with massive mental effort. This is likely to be less efficient and costly in terms of energy requirements. It seems to be related to the pathophysiology of patients with CCFS and to cause a vicious cycle of further increases in fatigue. PMID:26594619

  9. Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

    PubMed

    Wang, Ji-wen; Shi, Xiu-yu; Kurahashi, Hirokazu; Hwang, Su-Kyeong; Ishii, Atsushi; Higurashi, Norimichi; Kaneko, Sunao; Hirose, Shinichi

    2012-12-01

    Mutations of the gene encoding the α1 subunit of neuronal sodium channel, SCN1A, are reported to cause Dravet syndrome (DS). The prevalence of mutations reported in such studies (mainly in clinically confirmed DS) seems high enough to make genetic diagnosis feasible. In fact, commercially operating genetic diagnostic laboratories offering genetic analyses of SCN1A are available. Still, the exact prevalence of mutations of SCN1A remains elusive. Fukuoka University has been serving as a genetic diagnostic laboratory for DS for the last 10 years. In this study, we determined the prevalence of SCN1A mutations (SCN1A, SCN2A, SCN1B and SCN2B) in 448 patients with suspected DS and intractable childhood epilepsy. A total of 192 SCN1A mutations were identified in 188 of 448 patients (42.0%). The frequencies of SCN1A mutations in suspected severe myoclonic epilepsy of infancy (SMEI), its borderline phenotype (SMEB) and intractable epilepsy were 56.2%, 41.9% and 28.9% respectively. In addition, four SCN2A mutations were identified in 4 of 325 patients. No mutations of SCN1B and SCN2B were identified. These results are potentially helpful for the diagnosis of DS at early stage. PMID:23195492

  10. 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. PMID:22510527

  11. 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. PMID:26594619

  12. 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

  13. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

    PubMed

    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

    2016-06-01

    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

  14. Separate loci underlie resistance to root infection and leaf scorch during soybean sudden death syndrome.

    PubMed

    Kazi, S; Shultz, J; Afzal, J; Johnson, J; Njiti, V N; Lightfoot, D A

    2008-05-01

    Soybean [Glycine max (L.) Merr.] cultivars show differences in their resistance to both the leaf scorch and root rot of sudden death syndrome (SDS). The syndrome is caused by root colonization by Fusarium virguliforme (ex. F. solani f. sp. glycines). Root susceptibility combined with reduced leaf scorch resistance has been associated with resistance to Heterodera glycines HG Type 1.3.6.7 (race 14) of the soybean cyst nematode (SCN). In contrast, the rhg1 locus underlying resistance to Hg Type 0 was found clustered with three loci for resistance to SDS leaf scorch and one for root infection. The aims of this study were to compare the inheritance of resistance to leaf scorch and root infection in a population that segregated for resistance to SCN and to identify the underlying quantitative trait loci (QTL). "Hartwig", a cultivar partially resistant to SDS leaf scorch, F. virguliforme root infection and SCN HG Type 1.3.6.7 was crossed with the partially susceptible cultivar "Flyer". Ninety-two F5-derived recombinant inbred lines and 144 markers were used for map development. Four QTL found in earlier studies were confirmed. One contributed resistance to leaf scorch on linkage group (LG) C2 (Satt277; P = 0.004, R2 = 15%). Two on LG G underlay root infection at R8 (Satt038; P = 0.0001 R2 = 28.1%; Satt115; P = 0.003, R2 = 12.9%). The marker Satt038 was linked to rhg1 underlying resistance to SCN Hg Type 0. The fourth QTL was on LG D2 underlying resistance to root infection at R6 (Satt574; P = 0.001, R2 = 10%). That QTL was in an interval previously associated with resistance to both SDS leaf scorch and SCN Hg Type 1.3.6.7. The QTL showed repulsion linkage with resistance to SCN that may explain the relative susceptibility to SDS of some SCN resistant cultivars. One additional QTL was discovered on LG G underlying resistance to SDS leaf scorch measured by disease index (Satt130; P = 0.003, R2 = 13%). The loci and markers will provide tagged alleles with which to improve

  15. 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

  16. Aluminum toxicity and Ca depletion may enhance cell death of tobacco cells via similar syndrome.

    PubMed

    Basset, Refat Abdel; Matsumoto, Hideaki

    2008-05-01

    -mentioned sequence of events, induced by Al application looks, to a great extent, similar to Ca depletion syndrome leading finally to cell death of tobacco cells. PMID:19513221

  17. Aluminum toxicity and Ca depletion may enhance cell death of tobacco cells via similar syndrome

    PubMed Central

    Matsumoto, Hideaki

    2008-01-01

    -mentioned sequence of events, induced by Al application looks, to a great extent, similar to Ca depletion syndrome leading finally to cell death of tobacco cells. PMID:19513221

  18. Soybean sudden death syndrome species diversity within north and South america revealed by multilocus genotyping.

    PubMed

    O'Donnell, Kerry; Sink, Stacy; Scandiani, María Mercedes; Luque, Alicia; Colletto, Analía; Biasoli, Marisa; Lenzi, Lisandro; Salas, Graciela; González, Victoria; Ploper, Leonardo Daniel; Formento, Norma; Pioli, Rosanna N; Aoki, Takayuki; Yang, X B; Sarver, Brice A J

    2010-01-01

    Sudden death syndrome (SDS) of soybean has become a serious constraint to the production of this crop in North and South America. Phenotypic and multilocus molecular phylogenetic analyses, as well as pathogenicity experiments, have demonstrated that four morphologically and phylogenetically distinct fusaria can induce soybean SDS. Published molecular diagnostic assays for the detection and identification of these pathogens have reported these pathogens as F. solani, F. solani f. sp. glycines, or F. solani f. sp. phaseoli, primarily because the species limits of these four pathogens were only recently resolved. In light of the recent discovery that soybean SDS and Phaseolus and mung bean root rot (BRR) are caused by four and two distinct species, respectively, multilocus DNA sequence analyses were conducted to assess whether any of the published molecular diagnostic assays were species-specific. Comparative DNA sequence analyses of the soybean SDS and BRR pathogens revealed that highly conserved regions of three loci were used in the design of these assays, and therefore none were species-specific based on our current understanding of species limits within the SDS-BRR clade. Prompted by this finding, we developed a high-throughput multilocus genotyping (MLGT) assay which accurately differentiated the soybean SDS and two closely related Phaseolus and mung BRR pathogens based on nucleotide polymorphism within the nuclear ribosomal intergenic spacer region rDNA and two anonymous intergenic regions designated locus 51 and 96. The single-well diagnostic assay, employing flow cytometry and a novel fluorescent microsphere array, was validated by independent multilocus molecular phylogenetic analysis of a 65 isolate design panel. The MLGT assay was used to reproducibly type a total of 262 soybean SDS and 9 BRR pathogens. The validated MLGT array provides a unique molecular diagnostic for the accurate identification and molecular surveillance of these economically important

  19. Improved Diagnoses and Quantification of Fusarium virguliforme, Causal Agent of Soybean Sudden Death Syndrome.

    PubMed

    Wang, Jie; Jacobs, Janette L; Byrne, Jan M; Chilvers, Martin I

    2015-03-01

    Fusarium virguliforme (syn. F. solani f. sp. glycines) is the primary causal pathogen responsible for soybean sudden death syndrome (SDS) in North America. Diagnosis of SDS is difficult because symptoms can be inconsistent or similar to several soybean diseases and disorders. Additionally, quantification and identification of F. virguliforme by traditional dilution plating of soil or ground plant tissue is problematic due to the slow growth rate and plastic morphology of F. virguliforme. Although several real-time quantitative polymerase chain reaction (qPCR)-based assays have been developed for F. virguliforme, the performance of those assays does not allow for accurate quantification of F. virguliforme due to the reclassification of the F. solani species complex. In this study, we developed a TaqMan qPCR assay based on the ribosomal DNA (rDNA) intergenic spacer (IGS) region of F. virguliforme. Specificity of the assay was demonstrated by challenging it with genomic DNA of closely related Fusarium spp. and commonly encountered soilborne fungal pathogens. The detection limit of this assay was determined to be 100 fg of pure F. virguliforme genomic DNA or 100 macroconidia in 0.5 g of soil. An exogenous control was multiplexed with the assay to evaluate for PCR inhibition. Target locus copy number variation had minimal impact, with a range of rDNA copy number from 138 to 233 copies per haploid genome, resulting in a minor variation of up to 0.76 cycle threshold values between strains. The qPCR assay is transferable across platforms, as validated on the primary real-time PCR platform used in the Northcentral region of the National Plant Diagnostic Network. A conventional PCR assay for F. virguliforme detection was also developed and validated for use in situations where qPCR is not possible. PMID:25302524

  20. Usefulness of 10 genomic regions in soybean associated with sudden death syndrome resistance.

    PubMed

    Luckew, A S; Leandro, L F; Bhattacharyya, M K; Nordman, D J; Lightfoot, D A; Cianzio, S R

    2013-09-01

    Sudden death syndrome (SDS) is an important soybean [Glycine max (L) Merrill] disease caused by the soilborne fungus Fusarium virguliforme. Currently, 14 quantitative trait loci (QTL) had been confirmed associated with resistance or tolerance to SDS. The objective of the study was to evaluate usefulness of 10 of these QTL in controlling disease expression. Six populations were developed providing a total of 321 F2-derived lines for the study. Recombinant inbred lines (RIL) used as parents were obtained from populations of 'Essex' × 'Forrest' (EF), 'Flyer' × 'Hartwig' (FH), and 'Pyramid' × 'Douglas' (PD). Disease resistance was evaluated in the greenhouse at three different planting times, each with four replications, using sorghum infested with F. virguliforme homogeneously mixed in the soil (Luckew et al., Crop Sci 52:2215-2223, 2012). Four disease assessment criteria-foliar disease incidence (DI), foliar leaf scorch disease severity (DS), area under the disease progress curve (AUDPC), and root rot severity-were used. QTL were identified in more than one of the disease assessment criteria, mainly associated with lines in the most resistant categories. Five QTL (qRfs4, qRfs5, qRfs7, qRfs12, and Rfs16) were associated with at least one of the disease assessments across multiple populations. Of the five, qRfs4 was associated with DI, AUDPC, and root rot severity, and Rfs16 with AUDPC and root rot severity. The findings suggest it may be possible for plant breeders to focus on stacking a subset of the previously identified QTL to improve resistance to SDS in soybean. PMID:23793550

  1. 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…

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

    PubMed

    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

  3. Temporal organization of rest defined by actigraphy data in healthy and childhood chronic fatigue syndrome children

    PubMed Central

    2013-01-01

    Background Accumulating evidence has shown a universality in the temporal organization of activity and rest among animals ranging from mammals to insects. Previous reports in both humans and mice showed that rest bout durations followed long-tailed (i.e., power-law) distributions, whereas activity bouts followed exponential distributions. We confirmed similar results in the fruit fly, Drosophila melanogaster. Conversely, another report showed that the awakening bout durations, which were defined by polysomnography in bed, followed power-law distributions, while sleeping periods, which may correspond to rest, followed exponential distributions. This apparent discrepancy has been left to be resolved. Methods Actigraphy data from healthy and disordered children were analyzed separately for two periods: time out of bed (UP period) and time in bed (DOWN period). Results When data over a period of 24 h were analyzed as a whole, rest bouts showed a power law distribution as previously reported. However, when UP and DOWN period data were analyzed separately, neither showed power law properties. Using a newly developed strict method, only 30% of individuals satisfied the power law criteria, even when the 24 h data were analyzed. The human results were in contrast to the Drosophila results, which revealed clear power-law distributions for both day time and night time rest through the use of a strict method. In addition, we analyzed the actigraphy data from patients with childhood type chronic fatigue syndrome (CCFS), and found that they showed differences from healthy controls when their UP and DOWN data were analyzed separately. Conclusions These results suggested that the DOWN sleep, the bout distribution of which showed exponential properties, contributes to the production of long-tail distributions in human rest periods. We propose that separate analysis of UP and DOWN period data is important for understanding the temporal organization of activity. PMID:24188379

  4. 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

  5. Brugada syndrome and right ventricle morphofunctional abnormalities on echocardiography in young male with family anamnesis of sudden cardiac death.

    PubMed

    Steiner, Robert; Makarovic, Sandra; Makarovic, Zorin; Bilic-Curcic, Ines

    2014-03-01

    First presented by Brugada and Brugada in 1992, Brugada Syndrome (BrS) is a primary electrical disease of the heart that causes sudden cardiac death or life-threatening ventricular arrhythmias. This disease is hereditary autosomic dominant transmitted and genetically determined. The syndrome has been linked to mutations in SCN5A, the gene encoding for the a-subunit of the sodium channel. Electrocardiogram (ECG) abnormalities indicating Brugada syndrome, include repolarization and depolarization abnormalities in the absence of identifiable structural cardiac abnormalities or other conditions or agents known to lead to ST-segment elevation in the right precordial leads (V1-V3). Intravenous administration of sodium channel blocking drugs may modify the ECG pattern. Ajmaline, flecainide, procainamide and propafenone exaggerate the ST-segment elevation or unmask it when it is initially absent. An implantable cardioverter-defibrillator (ICD) is the only proven effective device treatment for the disease. Although BrS is primary electrical disease, some authors have suggested the presence of morphological and functional abnormalities mainly located in the right ventricle (RV), notably in the outflow tract (RVOT). In this short report we will present a young male, with predisposition and positive family history of sudden cardiac death, with complete diagnostic procedure including propafenon testing unmasking Brugada syndrome. An echosonography revealed dilated apical right ventricle, suggesting BrS is not only electrical disorder, but may include morphofunctional abnormalities, described in previous reports. In addition, we reviewed the possible connection between Brugada syndrome and morphological abnormalities in RV. PMID:24851643

  6. The evidential value of intra-alveolar haemosiderin-macrophages in cases of sudden infant death syndrome (SIDS).

    PubMed

    Kernbach-Wighton, G; Albalooshi, Y; Madea, B

    2012-10-10

    Intra-alveolar deposits of haemosiderin have repeatedly been brought into connection with some diagnostic value, such as markers for previous imposed suffocation, smothering due to Munchausen syndrome by proxy or sudden infant death syndrome (SIDS). This study is based on 104 SIDS cases and 14 controls (causes of death, e.g. inflammatory changes, internal haemorrhages, asphyxia, blunt force trauma or acute toxicity). The SIDS group comprised 44 females (aged 7 days to 12 months) and 60 males (aged 12 days to 16 months 8 days) with the ages of the controls ranging from 2 months 3 days to 47 months. Routine histology samples from the lungs were stained with Prussian blue and haemosiderin foci were counted in 20 hpf for each lung lobe by a pathologist blinded to the cause of death. Results were assigned to one of five categories for haemosiderin positivity. Data were analysed by the Levene-test revealing identical variances in both groups and with a two-sample t-test showing the mean values for haemosiderin counts not being significantly different between SIDS and control groups. Although the sizes of both samples differed considerably it is our opinion that the haemosiderin counts did not show sufficient diagnostic value. This outcome supports the latest results of other comparable investigations. Furthermore, it highlights the necessity to assess carefully positive haemosiderin findings to avoid false suspicion. PMID:22704554

  7. The rationale and design of Insight into Nephrotic Syndrome: Investigating Genes, Health and Therapeutics (INSIGHT): a prospective cohort study of childhood nephrotic syndrome

    PubMed Central

    2013-01-01

    Background Nephrotic syndrome is one of the most commonly diagnosed kidney diseases in childhood and its progressive forms can lead to chronic kidney disease (CKD) and/or end-stage renal disease (ESRD). There have been few longitudinal studies among a multi-ethnic cohort to determine potential risk factors influencing disease susceptibility, treatment response, and progression of nephrotic syndrome. Temporal relationships cannot be studied through cross-sectional study design. Understanding the interaction between various factors is critical to developing new strategies for treating children with kidney disease. We present the rationale and the study design of a longitudinal cohort study of children with nephrotic syndrome, the Insight into Nephrotic Syndrome: Investigating Genes, Health and Therapeutics (INSIGHT) study. The specific aims are to determine: 1) socio-demographic, environmental, and genetic factors that influence disease susceptibility; 2) rates of steroid treatment resistance and steroid treatment dependence, and identify factors that may modify treatment response; 3) clinical and genetic factors that influence disease susceptibility and progression to CKD and ESRD; and 4) the interaction between the course of illness and socio-demographic, environmental, and clinical risk factors. Methods/design INSIGHT is a disease-based observational longitudinal cohort study of children with nephrotic syndrome. At baseline, participants complete questionnaires and provide biological specimen samples (blood, urine, and toenail clippings). Follow-up questionnaires and repeat biological specimen collections are performed annually for up to five years. Discussion The proposed cohort will provide the structure to test various risk factors predicting or influencing disease susceptibility, treatment response, and progression to CKD among children with nephrotic syndrome. Trial registration ClinicalTrials.gov Identifier NCT01605266. PMID:23351121

  8. Sudden infant death syndrome in Australian aboriginal and non-aboriginal infants: an analytical comparison.

    PubMed

    Alessandri, L M; Read, A W; Burton, P R; Stanley, F J

    1996-07-01

    Our previous research has shown that the sudden infant death syndrome (SIDS) rate for Aboriginal infants in Western Australia (WA) is markedly higher than that for non-Aboriginal infants. The aim of this study was to identify factors that may be important in explaining this disparity. A case-control study was conducted based on routinely collected data for the population of WA singleton births from 1980 to 1990 inclusive. Cases were infants born and classified as dying from SIDS in WA (Aboriginal n = 88, non-Aboriginal n = 409). Controls were infants born in WA and not classified as dying from SIDS; 2% samples of both Aboriginal and non-Aboriginal infants were included. The risk of dying from SIDS in Aboriginal infants was 3.86 times [95% confidence interval (CI) = 2.98 to 5.02] that in non-Aboriginal infants. Statistically significant univariable risk factors for SIDS in Aboriginal infants were preterm birth, low birthweight and small-for-gestational-age; for non-Aboriginal infants they included these factors as well as single marital status, young maternal age, parity of one or greater and male sex. Comparing Aboriginal with non-Aboriginal controls, most of the risk factors were more common in the Aboriginal population. Multiple logistic regression analysis indicated that Aboriginal infants were 1.43 times [95% CI = 1.04 to 1.95] more likely to die from SIDS than non-Aboriginal infants. Differences in the risk factor profile for Aboriginal and non-Aboriginal infants were sought using interaction terms. The only important differences were that the risk of SIDS in Aboriginal infants, unlike that in non-Aboriginal infants, appeared not to be strongly related to male sex or to single marital status. Thus, the results show that the disparity between the incidence of SIDS in the Aboriginal and non-Aboriginal populations can be explained largely, although not totally, by the high prevalence of routinely recorded risk factors in the Aboriginal population. A limitation of

  9. mTOR inhibition by everolimus in childhood acute lymphoblastic leukemia induces caspase-independent cell death.

    PubMed

    Baraz, Rana; Cisterne, Adam; Saunders, Philip O; Hewson, John; Thien, Marilyn; Weiss, Jocelyn; Basnett, Jordan; Bradstock, Kenneth F; Bendall, Linda J

    2014-01-01

    Increasingly, anti-cancer medications are being reported to induce cell death mechanisms other than apoptosis. Activating alternate death mechanisms introduces the potential to kill cells that have defects in their apoptotic machinery, as is commonly observed in cancer cells, including in hematological malignancies. We, and others, have previously reported that the mTOR inhibitor everolimus has pre-clinical efficacy and induces caspase-independent cell death in acute lymphoblastic leukemia cells. Furthermore, everolimus is currently in clinical trial for acute lymphoblastic leukemia. Here we characterize the death mechanism activated by everolimus in acute lymphoblastic leukemia cells. We find that cell death is caspase-independent and lacks the morphology associated with apoptosis. Although mitochondrial depolarization is an early event, permeabilization of the outer mitochondrial membrane only occurs after cell death has occurred. While morphological and biochemical evidence shows that autophagy is clearly present it is not responsible for the observed cell death. There are a number of features consistent with paraptosis including morphology, caspase-independence, and the requirement for new protein synthesis. However in contrast to some reports of paraptosis, the activation of JNK signaling was not required for everolimus-induced cell death. Overall in acute lymphoblastic leukemia cells everolimus induces a cell death that resembles paraptosis. PMID:25014496

  10. mTOR Inhibition by Everolimus in Childhood Acute Lymphoblastic Leukemia Induces Caspase-Independent Cell Death

    PubMed Central

    Baraz, Rana; Cisterne, Adam; Saunders, Philip O.; Hewson, John; Thien, Marilyn; Weiss, Jocelyn; Basnett, Jordan; Bradstock, Kenneth F.; Bendall, Linda J.

    2014-01-01

    Increasingly, anti-cancer medications are being reported to induce cell death mechanisms other than apoptosis. Activating alternate death mechanisms introduces the potential to kill cells that have defects in their apoptotic machinery, as is commonly observed in cancer cells, including in hematological malignancies. We, and others, have previously reported that the mTOR inhibitor everolimus has pre-clinical efficacy and induces caspase-independent cell death in acute lymphoblastic leukemia cells. Furthermore, everolimus is currently in clinical trial for acute lymphoblastic leukemia. Here we characterize the death mechanism activated by everolimus in acute lymphoblastic leukemia cells. We find that cell death is caspase-independent and lacks the morphology associated with apoptosis. Although mitochondrial depolarization is an early event, permeabilization of the outer mitochondrial membrane only occurs after cell death has occurred. While morphological and biochemical evidence shows that autophagy is clearly present it is not responsible for the observed cell death. There are a number of features consistent with paraptosis including morphology, caspase-independence, and the requirement for new protein synthesis. However in contrast to some reports of paraptosis, the activation of JNK signaling was not required for everolimus-induced cell death. Overall in acute lymphoblastic leukemia cells everolimus induces a cell death that resembles paraptosis. PMID:25014496

  11. A missed penalty kick triggered coronary death in the husband and broken heart syndrome in the wife.

    PubMed

    Y-Hassan, Shams; Feldt, Kari; Stålberg, Marcus

    2015-11-15

    Events that induce emotional stress and frustration in a large number of subjects under specific circumstances, such as earthquakes, war conditions, and sporting occasions, may increase the incidence of cardiovascular events, such as acute myocardial infarction, arrhythmias, and sudden cardiac death. This report describes a married couple who expressed an apparently passionate interest in football with hazardous consequences after a tense football match during the FIFA 2014 World Championships. A series of emotional stressors initiated by defeat in this football game lead to cardiac arrest in a 58-year-old man caused by a thrombotic occlusion of the left anterior descending artery and ending in the death of the patient. An hour and 15 minutes after the onset of cardiac arrest of the patient, his 64-year-old wife also had chest pain caused by an acute midventricular takotsubo syndrome. She survived the acute stage of the disease, and there was complete resolution of the left ventricular dysfunction. PMID:26410607

  12. Hypothesis: new concepts concerning the pathophysiology of the sudden infant death syndrome due to magnesium deficiency shock.

    PubMed

    Caddell, J L

    1992-09-01

    There appear to be many contributing factors to sudden infant death syndrome (SIDS). One final common pathway that may explain some cases of SIDS is presented as a hypothesis: SIDS occurs as a shock-like event in a stressed infant with congenital or acquired magnesium deficiency with respect to calcium, or with genetically determined high magnesium requirements. Increased calcium and stress-related catecholamines favour platelet aggregation and release of mediators, chief of which appears to be thromboxane A2 (TXA2). TXA2, a major vasoconstrictor, bronchoconstrictor, and platelet aggregator is relatively unopposed during shock by prostacyclin, a vasodilator, bronchodilator, and platelet disaggregator which normally counterbalances its effects. The shock episode is self-limited. Infants who recover have suffered an apparent life threatening event (ALTE); those who die have insufficient pathology to explain the cause of death; the diagnosis is SIDS. PMID:1467153

  13. 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

    2016-01-01

    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

  14. Diagnosis of causes of childhood deaths in developing countries by verbal autopsy: suggested criteria. The SEARCH Team.

    PubMed Central

    Bang, A. T.; Bang, R. A.

    1992-01-01

    In the absence of medical certification of deaths in developing countries, lay reporting and verbal autopsy have emerged as useful alternative methods for collecting data on causes of death. Of these, verbal autopsy offers advantages and is widely used in field studies and child survival programmes. However, because uniform and valid criteria for the diagnosis of common causes of death are lacking, comparison of the results of different studies becomes meaningless. This article proposes such a set of criteria for the cause of death among neonates and for those aged 1-59 months. The criteria are based on the findings of earlier validation studies, a Delphi survey and the experience gained from performing 1000 verbal autopsies in Gadchiroli, India. The emergence of such standardized criteria of causes of death should be of immense value for health planning, monitoring and evaluation purposes and for interregional comparisons. PMID:1394784

  15. 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. ...

  16. 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

  17. The lethal paraphiliac syndrome. Accidental autoerotic deaths in Denmark 1933-1990.

    PubMed

    Behrendt, N; Modvig, J

    1995-09-01

    A new definition of accidental autoerotic death (AAD) is proposed. A death is an AAD if it is solitary, accidental, and caused by a lethal paraphilia. On the basis of a series of 46 AADs, all occurring among men in the period 1933-1990 in Denmark, the definition cannot be rejected. A paraphilia is regarded as lethal if it is inherently life-threatening. The results of this study have been related to previous reports of similar autoerotic deaths in the literature. It is suggested that the present distinction between asphyxial AAD as typical and nonasphyxial ADD as atypical be replaced with lethal paraphilia with accompanying nonlethal paraphilia or props as typical AAD and lethal paraphilia with no accompanying nonlethal paraphilia or props as atypical AAD. PMID:7495265

  18. Hepatic Sinusoidal Obstruction Syndrome During Chemotherapy for Childhood Medulloblastoma: Report of a Case and Review of the Literature

    PubMed Central

    Buckland, Amy; Phillips, Marianne B.; Cole, Catherine H.; Gottardo, Nicholas G.

    2014-01-01

    Hepatic sinusoidal obstruction syndrome (HSOS), also known as veno-occlusive disease, is a well-recognized toxic complication after autologous and allogeneic hematopoietic stem cell transplant, during treatment of Wilms tumor and rhabdomyosarcoma associated with actinomycin-D, and during acute lymphoblastic leukemia therapy due to oral 6-thioguanine. However, its occurrence in the context of chemotherapy regimens for other childhood malignancies is rare. We report a 5-year-old girl with high-risk anaplastic medulloblastoma, who developed severe HSOS during her second cycle of maintenance chemotherapy, consisting of vincristine, cisplatin, and cyclophosphamide. She was treated with defibrotide with complete resolution of the HSOS. These findings and a review of the literature, highlight the occurrence of HSOS in children outside the established settings of hematopoietic stem cell transplantation, Wilms tumor, rhabdomyosarcoma, and acute lymphoblastic leukemia. PMID:24276042

  19. Metabolic syndrome in adults who received hematopoietic stem cell transplantation for acute childhood leukemia: an LEA study.

    PubMed

    Oudin, C; Auquier, P; Bertrand, Y; Contet, A; Kanold, J; Sirvent, N; Thouvenin, S; Tabone, M-D; Lutz, P; Ducassou, S; Plantaz, D; Dalle, J-H; Gandemer, V; Beliard, S; Berbis, J; Vercasson, C; Barlogis, V; Baruchel, A; Leverger, G; Michel, G

    2015-11-01

    We evaluated prospectively the incidence and risk factors of the metabolic syndrome (MS) and its components in 170 adult patients (mean age at evaluation: 24.8±5.4 years) who received an hematopoietic stem cell transplantation for childhood ALL, n=119, or AML, n=51. TBI was carried out in 124 cases; a busulfan-based conditioning was done in 30 patients. Twenty-nine patients developed a MS (17.1%, 95% confidence intervals: 11.7-23.6). The cumulative incidence was 13.4% at 25 years of age and 35.5% at 35 years of age. A higher body mass index (BMI) before transplantation and a growth hormone deficiency were associated with increased MS risk (P=0.002 and 0.01, respectively). MS risk was similar for patients who received TBI or busulfan-based conditioning. The TBI use increased the hyperglycemia risk (odds ratio (OR): 4.7, P=0.02). Women were at the risk of developing increased waist circumference (OR: 7.18, P=0.003) and low levels of high-density lipoprotein cholesterol (OR: 2.72, P=0.007). The steroid dose was not a risk factor. The MS occurs frequently among transplanted survivors of childhood leukemia. Its incidence increases with age. Both intrinsic (BMI, gender) and extrinsic factors (TBI, alkylating agents) contribute to its etiopathogenesis. PMID:26191949

  20. 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…

  1. Lethal challenge of gnotobiotic weanling rats with bacterial isolates from cases of sudden infant death syndrome (SIDS).

    PubMed

    Lee, S; Barson, A J; Drucker, D B; Morris, J A; Telford, D R

    1987-12-01

    An attempt was made to produce an animal model of sudden infant death syndrome (SIDS). The experimental animals (germ free weanling rats) were exposed to nasopharyngeal isolates from cases of SIDS to test the hypothesis that common bacteria may have an aetiological role in the disease. Negative results were obtained when the strains were tested in isolation, but certain combinations of organisms (specifically some Staphylococcus aureus and Escherichia coli) killed the animals rapidly (less than 18 hours) without prolonged terminal illness. Post mortem histological findings were consistent with those of SIDS. The lethal toxigenic potential of nasopharyngeal bacteria, which are regarded as harmless in adults, should be reconsidered in respect of the aetiology of SIDS. PMID:3323245

  2. The role of chitosan in protection of soybean from sudden death syndrome caused by Fusarium solani f. sp. glycines.

    PubMed

    Prapagdee, Benjaphorn; Kotchadat, Kanignun; Kumsopa, Acharaporn; Visarathanonth, Niphon

    2007-05-01

    The in vitro antifungal properties of chitosan and its role in protection of soybean from a sudden death syndrome (SDS) were evaluated. Chitosan inhibited the radial and submerged growth of F. solani f. sp. glycines with a marked effect at concentrations up to 1mg/ml indicating antifungal property and at 3mg/ml was able to delay SDS symptoms expression on soybean leaves for over three days after fungal inoculation when applied preventively. Chitosan was able to induce the level of chitinase activity in soybean resulting in the retardation of SDS development in soybean leaves. However, the SDS symptoms gradually appeared and were associated with the reduction of chitinase activity level after five days of infection period. These results suggested the role of chitosan in partially protecting soybeans from F. solani f. sp. glycines infection. PMID:16828285

  3. 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

  4. Toxic gas generation from plastic mattresses and sudden infant death syndrome.

    PubMed

    Warnock, D W; Delves, H T; Campell, C K; Croudace, I W; Davey, K G; Johnson, E M; Sieniawska, C

    1995-12-01

    Microbial generation of toxic gases from antimony, arsenic, or phosphorus in compounds used as fire retardants in cot mattresses has been proposed as a cause of sudden infant death. To test this hypothesis, 23 polyvinyl chloride mattress samples from cot death cases were incubated on malt agar plates until good microbial growth was obtained. Silver nitrate and mercuric chloride test papers were then inserted and the colour reactions recorded. The predominant organism, recovered from all mattresses tested, was not, as claimed in earlier work, the fungus Scopulariopsis brevicaulis, but a mix of common environmental Bacillus spp. Test paper colour changes occurred whenever bacterial growth was present, but these reactions also occurred in control tests in which no mattress material was present on the plates. Chemical and instrumental analyses of exposed test papers showed that the colour reactions were not due to deposits of antimony, arsenic, or phosphorus. Our findings do not support the hypothesis that toxic gases derived from antimony, arsenic, or phosphorus are a cause of sudden infant death. More sulphur was found in test papers exposed in plates containing bacterial growth than in those without such growth. This result suggests that the test paper reactions were due to the generation of sulphur-containing compounds during bacterial growth on the agar medium. PMID:7491046

  5. Polymorphism identification and cardiac gene expression analysis of the calsequestrin 2 gene in broiler chickens with sudden death syndrome.

    PubMed

    Basaki, M; Asasi, K; Tabandeh, M R; Aminlari, M

    2016-04-01

    Sudden death syndrome (SDS) in broilers is a cardiac disease associated with ventricular tachycardia (VT) and ventricular fibrillation (VF); however, its pathogenesis at the molecular level is not precisely determined. Downregulation and mutations of calsequestrin 2 (CASQ2), a major intracellular Ca(2+) buffer, have been associated with VT and sudden cardiac death (SCD) in humans but in chickens there is no report describing CASQ2 abnormalities in cardiac diseases. In order to better understand the molecular mechanisms predisposing the myocardium to fatal arrhythmia in broilers, the mRNA expression level of chicken CASQ2 gene (chCASQ2) in the left ventricle of dead broilers with SDS was determined and compared to healthy broilers using quantitative real-time PCR (qPCR). To determine the probable mutations in chCASQ2, PCR and direct sequencing were also done. Results showed a reduction in chCASQ2 expression in broilers dead by SDS. Three novel mutations (K289R, P308S, D310H) which are absent in healthy broilers were observed in chCASQ2. It is concluded that susceptibility to fatal cardiac arrhythmia in SDS may be associated with changes in intracellular Ca(2+) balance due to mutation and downregulation of chCASQ2. PMID:26953612

  6. 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 American…

  7. Comparison of inoculation methods for characterizing relative aggressiveness of two soybean sudden-death syndrome pathogens, Fusarium virguliforme and F. tucumaniae

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium tucumaniae and F. virguliforme are the primary etiological agents of sudden-death syndrome (SDS) of soybean in Argentina and the United States, respectively. Five isolates of F. tucumaniae and four of F. virguliforme were tested for pathogenicity to soybeans, by comparing a toothpick method...

  8. 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...

  9. Identification of multiple phytotoxins produced by Fusarium virguliforme including a phytotoxic effector (FvNIS1) associated with soybean sudden death syndrome foliar symptoms

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Toxins produced by the soil-borne fungus, Fusarium virguliforme, cause foliar symptoms in soybean. The disease in soybean is referred to as soybean sudden death syndrome (SDS). Three toxins produced by the fungus were reported to be associated with SDS foliar symptoms, but none produced identical S...

  10. Genetic architecture and evolution of the mating type locus in fusaria that cause soybean sudden death syndrome and bean root rot

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Fusarium tucumaniae is the only known sexually reproducing species among the seven closely related fusaria that cause soybean sudden death syndrome (SDS) or bean root rot (BRR). Laboratory mating of F. tucumaniae required two mating-compatible strains, indicating that it is heterothallic. To assess ...

  11. Mapping and Confirmation of a New Sudden Death Syndrome Resistance QTL on Linkage Group D2 from the Soybean Genotypes PI 567374 and ‘Ripley’

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The use of resistant cultivars is the most effective method for controlling sudden death syndrome (SDS), caused by Fusarium solani f. sp. glycines (FSG) (syn. Fusarium virguliforme Akoi, O’Donnell, Homma and Lattanzi), in soybean [Glycine max (L.) Merr.]. Previous research has led to the identificat...

  12. 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

  13. Inappropriate mediastinal baroreceptor reflex as a possible cause of sudden infant death syndrome - Is thorough burping before sleep protective?

    PubMed

    Flaig, Christian

    2007-01-01

    Despite extensive research, a link between the assumed mechanisms of death and known risk factors for sudden infant death syndrome (SIDS) has not yet been established. Modifiable risk factors such as prone sleeping position, nicotine exposure and thermal stress and non-avoidable risk factors like male gender and some risky socio-economic conditions could be detected, but the etiology of SIDS remains unknown. In many SIDS cases histopathological findings suggest an involvement of vital autonomic control functions and unidentified trigger factors seem to play a role. From a hypothetical point of view, a developmental sympatheticovagal imbalance of the cardiovascular reflex control could cause a predisposition for SIDS. An assumed gastroesophageal trigger impulse is possibly developed during the first weeks of life and could lead to the infant's vagal reflex death. Air swallowed during feeding escapes through the esophagus while the infant is sleeping. The temporarily bloated esophagus exerts pressure on neighboring mediastinal baroreceptors, which is potentially misinterpreted as a rise in arterial pressure. The following cardiodepressoric baroreceptor reflex could lead to arterial hypotension, bradycardia and cardiac arrest. Sleeping in prone position may create an increased thoracic pressure on mediastinal baroreceptors, causing a more pronounced vagal reflex and an increased likelihood of SIDS. Prone position in connection with soft objects in the infant's sleeping environment potentially generates an increased oculobulbar pressure, resulting in an additional cardiodepressoric condition (Aschner-Dagnini phenomenon). From the sixth month of life onwards the sympatheticovagal balance seems to have matured sufficiently to compensate the life-threatening challenges in most infants. Insufficient postprandial burping could either create another independent modifiable risk factor or present the missing link to a common trigger mechanism for SIDS. Further investigations

  14. Sudden death syndrome in adult cows associated with Clostridium perfringens type E.

    PubMed

    Redondo, L M; Farber, M; Venzano, A; Jost, B H; Parma, Y R; Fernandez-Miyakawa, M E

    2013-04-01

    Clostridium perfringens type E is considered a rare toxinotype and an infrequent cause of enterotoxemia of lambs, calves, and rabbits. Until now, only cases of young animal of C. perfringens type E bovine enterotoxemia, characterized by hemorrhagic enteritis and sudden death, have been reported. The present report details the genotypic characterization of C. perfringens type E isolates obtained from intestinal samples of adult cattle during an outbreak of enterotoxemia in Argentina. The sequences of several housekeeping genes of these isolates were analyzed and compared with those obtained from calves in North America showing a clonal unique lineage. PMID:23354004

  15. Epidemiology of childhood Guillan-Barre syndrome in the north west of Iran

    PubMed Central

    Barzegar, Mohammad; Dastgiri, Saeed; Karegarmaher, Mohammad H; Varshochiani, Ali

    2007-01-01

    Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit. Results The mean age (standard deviation) of subjects was 5.4 (3.6) years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6). The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10). Conclusion The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region. PMID:17683586

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

    ClinicalTrials.gov

    2016-03-16

    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

  17. Cutaneous manifestations as presenting sign of autoimmune lymphoproliferative syndrome in childhood.

    PubMed

    Auricchio, Luigi; Vitiello, Laura; Adriani, Marsilio; Ferri, Pasqualina; Chiocchetti, Annalisa; Pettinato, Guido; Racioppi, Luigi; Maiuri, Luigi; Dianzani, Umberto; Pignata, Claudio

    2005-01-01

    Autoimmune lymphoproliferative syndrome is a disorder due to a defect of lymphocyte apoptosis, whose clinical manifestations consist of hyperplasia of lymphoid tissues and autoimmune diseases. We report on a 26-month-old child who presented with frequent eruptions of weals and angioedema without any apparent triggering factor, who subsequently developed an erythematopapular rash with a histological pattern of a lymphoplasmacellular infiltrate. Familial anamnesis revealed a history of lymphoadenomegaly and massive spleen and liver enlargement in her sister. Functional and molecular analysis led to a diagnosis of type 1a autoimmune lymphoproliferative syndrome. Immunophenotyping of the cutaneous lesion revealed the presence of an inflammatory infiltrate with a considerably high number of Langerhans cells. Cutaneous features such as urticaria, angioedema and vasculitis in children with a personal and familial history of hyperplasia of lymphoid tissues may be a presenting sign of a systemic disease, such as autoimmune lymphoproliferative syndrome. PMID:15942224

  18. 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

  19. Death due to fulminant toxic-shock syndrome: differential diagnosis of a multilayered clinical picture.

    PubMed

    De Ridder, M; Dissmann, W

    1991-03-01

    Reported is the case study of a 27-year-old top-performance sportswoman who died of a fulminant illness with multiple organ failure. Long-term polypragmatic therapy and pharmacotherapy as well as acute analgesic and non-steroid antirheumatic treatment due to lumbago led to the diagnosis of a "complex toxic-allergic process". Numerous pathologic-anatomical findings, including the absence of septic spleen reaction and the demonstration of hyperacute polyradiculitis, supported this diagnosis. The present article discusses the possible differential diagnoses of the illness with the conclusion that its symptoms, clinical course, laboratory constellation and pathologic-anatomical findings better correspond to infection-caused toxic-shock syndrome (TSS) than to a toxic-allergic process. PMID:1861478

  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. Is there an increased risk of metabolic syndrome among childhood acute lymphoblastic leukemia survivors? A developing country experience.

    PubMed

    Mohapatra, Sonali; Bansal, Deepak; Bhalla, A K; Verma Attri, Savita; Sachdeva, Naresh; Trehan, Amita; Marwaha, R K

    2016-03-01

    Data on metabolic syndrome (MS) in survivors of childhood acute lymphoblastic leukemia (ALL) from developing countries are lacking. The purpose of this single-center, uncontrolled, observational study was to assess the frequency of MS in our survivors. The survivors of ALL ≤15 years at diagnosis, who had completed therapy ≥2 years earlier, were enrolled. Anthropometric measurements (weight, height, waist circumference), biochemistry (glucose, insulin, triglycerides, high-density lipoprotein [HDL], thyroid function tests, C-reactive protein [CRP], magnesium), measurement of blood pressure, and Tanner staging were performed. MS was defined by International Diabetes Federation (IDF) and the National Cholesterol Education Program Third Adult Treatment Panel guidelines (NCEP ATP III) criteria, modified by Cook et al. (Arch Pediatr Adolesc Med. 2003;157:821-827) and Ford et al. (Diabetes Care. 2005;28:878-881). The median age of 76 survivors was 11.9 years (interquartile range [IQR]: 9.6-13.5). Twenty-four (32%) survivors were obese or overweight. The prevalence of insulin resistance (17%), hypertension (7%), hypertriglyceridemia (20%), and low HDL (37%) was comparable to the prevalence in children/adolescents in historical population-based studies from India. The prevalence of MS ranged from 1.3% to 5.2%, as per different defining criteria. Cranial radiotherapy, age at diagnosis, sex, or socioeconomic status were not risk factors for MS. The prevalence of MS in survivors of childhood ALL, at a median duration of 3 years from completion of chemotherapy, was comparable to the reference population. The prevalence of being obese or overweight was, however, greater than historical controls. PMID:26984439

  2. A case of Fournier gangrene complicating idiopathic nephrotic syndrome of childhood.

    PubMed

    Wright, A J; Lall, A; Gransden, W R; Joyce, M R; Rowsell, A; Clark, G

    1999-11-01

    A 10-year-old boy presenting with steroid resistant nephrotic syndrome developed Fournier gangrene of the scrotum. Antimicrobial drug therapy, intravenous albumin, excision of necrotic scrotum and left orchidectomy followed by skin grafting 3 weeks later led to an excellent cosmetic and medical result. Six months later he remains nephrotic on diuretic and angiotensin converting enzyme inhibitor medication. PMID:10603132

  3. 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…

  4. 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…

  5. 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…

  6. Acquired aphasia without deafness in childhood--the Landau-Kleffner syndrome.

    PubMed

    Hughes, A P; Appleton, R E; Hodgson, J

    1993-07-01

    A young boy presented with loss of speech and behaviour disturbance and was thought to be deaf. He was subsequently found to have the Landau-Kleffner syndrome (LKS), or acquired aphasia with epilepsy. Children with this disorder commonly present to an audiology or ENT clinic. Early recognition is important to initiate supportive, speech and educational care. PMID:15125283

  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. 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...

  9. Pilot Study of Nasal Expiratory Positive Airway Pressure Devices for the Treatment of Childhood Obstructive Sleep Apnea Syndrome

    PubMed Central

    Kureshi, Suraiya A.; Gallagher, Paul R.; McDonough, Joseph M.; Cornaglia, Mary Anne; Maggs, Jill; Samuel, John; Traylor, Joel; Marcus, Carole L.

    2014-01-01

    Study Objectives: Alternative therapies for childhood obstructive sleep apnea syndrome (OSAS) are needed as OSAS may persist despite adenotonsillectomy, and continuous positive airway pressure (CPAP) adherence is low. Nasal expiratory positive airway pressure (NEPAP) devices have not been studied in children. We hypothesized that NEPAP would result in polysomnographic improvement. Further, we aimed to determine NEPAP adherence, effects on sleepiness, behavior, and quality of life. Methods: A randomized, double-blind, placebo-controlled, crossover pilot study was performed. CPAP candidates, 8-16 years old, underwent NEPAP and placebo polysomnograms. Subjects with ≥ 50% reduction in the apnea hypopnea index (AHI) from placebo to NEPAP night or AHI < 5/h on NEPAP night wore NEPAP at home for 30 days. Adherence was assessed by daily phone calls/emails and collecting used devices. Results: Fourteen subjects (age 13.4 ± 1.9 years, BMI z-scores 2.2 ± 1 [mean ± SD]) were studied. There was significant improvement in the obstructive apnea index with NEPAP vs. placebo: 0.6 (0-21.1)/h vs. 4.2 (0-41.9)/h (median [range], p = 0.010) and trends for improvement in other polysomnographic parameters. However, responses were variable, with 3 subjects not improving and 2 worsening. Older children and those with less hypercapnia had a better response. Eight subjects were sent home with devices; one was lost to follow-up, and adherence in the remainder was 83% of nights; these subjects had a significant improvement in sleepiness and quality of life. Conclusions: NEPAP devices are a potential alternative therapy for OSAS in a small subset of children. Due to variability in individual responses, efficacy of NEPAP should be evaluated with polysomnography. Clinical Trial Registration: www.clinicaltrials.gov, identifier: NCT01768065 Citation: Kureshi SA, Gallagher PR, McDonough JM, Cornaglia MA, Maggs J, Samuel J, Traylor J, Marcus CL. Pilot study of nasal expiratory positive airway

  10. Factors relating to the infant's last sleep environment in sudden infant death syndrome in the Republic of Ireland

    PubMed Central

    McGarvey, C; McDonnell, M; Chong, A; O'Regan, M; Matthews, T

    2003-01-01

    Aim: To identify risk factors for sudden infant death syndrome (SIDS) in the sleeping environment of Irish infants. Methods: A five year population based case-control study with parental interviews conducted for each case and three controls matched for age, place of birth, and last sleep period. A total of 203 SIDS cases and 622 control infants born 1994–98 were studied. Results: In a multivariate analysis, co-sleeping significantly increased the risk of SIDS both as a usual practice (adjusted OR 4.31; 95% CI 1.07 to 17.37) and during the last sleep period (adjusted OR 16.47; 95% CI 3.73 to 72.75). The associated risk was dependent on maternal smoking (OR 21.84; 95% CI 2.27 to 209.89), and was not significant for infants who were ⩾20 weeks of age (OR 2.63; 95% CI 0.49 to 70.10) or placed back in their own cot/bed to sleep (OR 1.07; 95% CI 0.21 to 5.41). The use of pillows, duvets, and bedding with tog value ⩾10 were not significant risk factors when adjusted for the effects of confounding variables, including maternal smoking and social disadvantage. However, the prone sleeping position remains a significant SIDS risk factor, and among infants using soothers, the absence of soother use during the last sleep period also significantly increased the SIDS risk (OR 5.83; CI 2.37 to 14.36). Conclusion: Co-sleeping should be avoided in infants who are <20 weeks of age, or whose mothers smoked during pregnancy. The prone position remains a factor in some SIDS deaths, and the relation between soother use and SIDS is a complex variable requiring further study. PMID:14670769

  11. 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. PMID:25349203

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

    PubMed Central

    Gbadegesin, Rasheed A.; 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.

    2015-01-01

    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. PMID:25349203

  13. 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. PMID:26774498

  14. 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. PMID:22571891

  15. Effects of gluten-free, dairy-free diet on childhood nephrotic syndrome and gut microbiota.

    PubMed

    Uy, Natalie; Graf, Lauren; Lemley, Kevin V; Kaskel, Frederick

    2015-01-01

    Emerging evidence suggests an association between food sensitivity and gut microbiota in children with nephrotic syndrome. Diminished proteinuria resulted from eliminating cow's milk and the use of an oligoantigenic diet which excluded gluten, especially in patients with immune-related conditions, i.e., celiac disease and nephrotic syndrome. The mechanisms underlying the association of diet, gut microbiota, and dysregulation of the immune system are unknown. Gut microbiota is influenced by a number of factors including diet composition and other environmental epigenetic exposures. The imbalance in gut microbiota may be ameliorated by gluten-free and dairy-free diets. Gluten-free diet increased the number of unhealthy bacteria while reducing bacterial-induced cytokine production of IL-10. Thus, gluten-free diet may influence the composition and immune function of gut microbiota and should be considered a possible environmental factor associated with immune-related disease, including nephrotic syndrome. Furthermore, the imbalance of gut microbiota may be related to the development of cow's milk protein allergy. Investigations are needed to fill the gaps in our knowledge concerning the associations between the gut microbiome, environmental exposures, epigenetics, racial influences, and the propensity for immune dysregulation with its inherent risk to the developing individual. PMID:25310757

  16. Single dose rasburicase in the management of tumor lysis syndrome in childhood acute lymphoblastic leukemia: A case series

    PubMed Central

    Latha, S. M.; Krishnaprasadh, D.; Murugapriya, P.; Scott, J. X.

    2015-01-01

    Tumor lysis syndrome (TLS) occurs in malignancies with high proliferative potential and tumor burden, such as lymphomas and leukemias. TLS syndrome is an oncologic emergency, requiring prompt intervention. The metabolic derangements cause acute kidney failure and may lead to cardiac arrhythmias, seizures, and death. With the advent of rasburicase, a recombinant urate oxidase, there has been a decline in the TLS-mediated renal failure and the need for dialysis. The recommended regimen and doses pose a heavy financial burden for patients in developing countries like India. With data and studies proving a similar efficacy for the reduced dose and lesser number of rasburicase, we report here a case series of seven children with acute leukemias, whose TLS was managed by a single dose of rasburicase. A retrospective analysis of case records of seven children with acute lymphoblastic leukemia and TLS, admitted to our Pediatric Oncology Unit of our Hospital between the period 2011 and 2013, was done. All our patients responded to a single dose, indicating that in appropriately monitored patients, single dose followed by as-needed dosing can be cost-saving. PMID:25838646

  17. 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

  18. 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

  19. Magnetic influences on fetus and infant as reason for sudden infant death syndrome: a new testable hypothesis.

    PubMed

    Eckert, E E

    1992-05-01

    The hypothesis is based upon: a) My observed clustering of Sudden Infant Death Syndrome (SIDS) cases at places with abnormal geomagnetic fields (GMF) and/or electromagnetic fields (EMF); b) recorded GMF with pulsations matching the breathing frequencies of infants; c) the reported immature development of increased dendritic spine density in the brain stem of SIDS cases and; d) the increased dendrite arborization in the brains of rats exposed to magnetic fields (MF). The hypothesis consists of two parts: 1. A disturbed GMF in the residence or surroundings of a pregnant woman may interrupt the normal development of the central organ which controls respiration (brain stem) of the fetus. This is termed the 'Selection Factor'. 2. If such an infant with a functional disturbance of the control organ is then exposed to a GMF or EMF with pulsations similar to his own breathing frequency, but inverted in phase, value, form etc then the vital nerve impulses from the respiration control organ to the breathing organs may be disturbed or blocked with fatal effect. This is termed the 'Trigger Factor'. The elements of the 'Selection Factor' and the 'Trigger Factor' together produce SIDS. A program to test such a supposed 'Trigger Factor' is included. PMID:1614359

  20. Cadmium, lead, calcium, magnesium, copper, and zinc concentrations in human infant tissues: their relationship to Sudden Infant Death Syndrome

    SciTech Connect

    Erickson, M.M.

    1981-01-01

    The purpose of this study was to determine whether there was any evidence of an excess of the toxic elements, cadmium and lead, or a deficiency of any of the essential elements, calcium, magnesium, copper, and zinc, in the tissues of infants who died of Sudden Infant Death Syndrome (SIDS) as compared to those of infants who died of other causes. The literature was reviewed for SIDS, mineral metabolism, and mineral interactions. Lung, liver, kidney, and rib specimens were obtained at autopsy from 130 infants who died suddenly and unexpectedly. There were 85 SIDS cases ranging in age from 2 to 64 weeks and 45, aged 1 to 92 weeks, who died of other causes. Concentrations of cadmium, lead, calcium, magnesium, copper, and zinc in each tissue were determined by electrothermal and flame atomic absorption spectrophotometry. Statistical analysis of the data showed that liver and rib lead concentrations and liver magnesium concentrations were significantly higher in SIDS tissues in the 4 to 26 week age group than in non-SIDS tissues in the same age group. There was no evidence of a deficiency of the essential minerals measured.

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

    PubMed

    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

  2. Effect of dietary protein source and cereal type on the incidence of sudden death syndrome in broiler chickens.

    PubMed

    Blair, R; Jacob, J P; Gardiner, E E

    1990-08-01

    Three experiments were conducted to compare the incidence of Sudden Death Syndrome (SDS) in male Peterson by Arbor Acre broiler chickens fed diets with either corn or wheat as the grain type and meat meal or soybean meal as the main protein source. In the first two experiments, the broilers were raised in floor pens to 6 wk of age, and in the third experiment they were raised in battery-brooder cages to 4 wk of age. In both floor pen studies, total mortality and the incidence of SDS were significantly higher for wheat-fed birds, while SDS as a percentage of total mortality was not affected by cereal type. In the brooder study, neither total mortality nor mortality from SDS was significantly affected by cereal type. In the floor pen studies, the incidence of SDS as a percentage of the birds housed, was reduced by the inclusion of meat meal in the diet. In the brooder study, total mortality and the incidence of SDS were not affected by protein source, but SDS as a percentage of total mortality was reduced with the inclusion of meat meal in the diet. PMID:2235846

  3. Leveraging model legume information to find candidate genes for soybean sudden death syndrome using the legume information system.

    PubMed

    Gonzales, Michael D; Gajendran, Kamal; Farmer, Andrew D; Archuleta, Eric; Beavis, William D

    2007-01-01

    Comparative genomics is an emerging and powerful approach to achieve crop improvement. Using comparative genomics, information from model plant species can accelerate the discovery of genes responsible for disease and pest resistance, tolerance to plant stresses such as drought, and enhanced nutritional value including production of anti-oxidants and anti-cancer compounds. We demonstrate here how to use the Legume Information System for a comparative genomics study, leveraging genomic information from Medicago truncatula (barrel medic), the model legume, to find candidate genes involved with sudden death syndrome (SDS) in Glycine max (soybean). Specifically, genetic maps, physical maps, and annotated tentative consensus and expressed sequence tag (EST) sequences from G. max and M. truncatula can be compared. In addition, the recently published M. truncatula genomic sequences can be used to identify M. truncatula candidate genes in a genomic region syntenic to a quantitative trait loci region for SDS in soybean. Genomic sequences of candidate genes from M. truncatula can then be used to identify ESTs with sequence similarities from soybean for primer design and cloning of potential soybean disease causing alleles. PMID:18287696

  4. Genomic analysis of a region encompassing QRfs1 and QRfs2: genes that underlie soybean resistance to sudden death syndrome.

    PubMed

    Triwitayakorn, K; Njiti, V N; Iqbal, M J; Yaegashi, S; Town, C; Lightfoot, D A

    2005-02-01

    Candidate genes were identified for two loci, QRfs2 providing resistance to the leaf scorch called soybean (Glycine max (L.) Merr.) sudden death syndrome (SDS) and QRfs1 providing resistance to root infection by the causal pathogen Fusarium solani f.sp. glycines. The 7.5 +/- 0.5 cM region of chromosome 18 (linkage group G) was shown to encompass a cluster of resistance loci using recombination events from 4 near-isogenic line populations and 9 DNA markers. The DNA markers anchored 9 physical map contigs (7 are shown on the soybean Gbrowse, 2 are unpublished), 45 BAC end sequences (41 in Gbrowse), and contiguous DNA sequences of 315, 127, and 110 kbp. Gene density was high at 1 gene per 7 kbp only around the already sequenced regions. Three to 4 gene-rich islands were inferred to be distributed across the entire 7.5 cM or 3.5 Mbp showing that genes are clustered in the soybean genome. Candidate resistance genes were identified and a molecular basis for interactions among the disease resistance genes in the cluster inferred. PMID:15729404

  5. Soil suppressiveness against the disease complex of the soybean cyst nematode and sudden death syndrome of soybean.

    PubMed

    Westphal, Andreas; Xing, Lijuan

    2011-07-01

    The ecology of the complex of soybean cyst nematode (SCN) and sudden death syndrome (SDS) of soybean was investigated under soybean monoculture in two field experiments from 2003 to 2007. Initially, susceptible soybean 'Spencer' was planted while inoculating Fusarium virguliforme into nonfumigated or preseason-fumigated plots (methyl bromide, MB, at 450 kg/ha), and SCN and SDS were monitored. In one field, SCN population densities declined in nonfumigated but increased in fumigated plots. After years of limited SDS in 2003 and 2004, SDS developed later in nonfumigated than fumigated plots. In 2006 in the greenhouse, nondisturbed or disturbed soil cores (10-cm diameter, 30-cm depth) from field plots received two two-level factors: (i) nonfumigated or fumigated (1,070 kg/ha MB); and (ii) noninoculated or inoculated with 9,000 second-stage juveniles of SCN. At harvest, nonfumigated cores from nonfumigated plots had fewer nematodes and less SDS regardless of disturbance or inoculation than the corresponding fumigated cores and any cores from fumigated plots. In the second field, SCN became detectable after 2003 during the monoculture in nonfumigated plots and lagged in fumigated plots; both treatments had low levels of SDS. Exploiting the suppressiveness of the first field could allow for biological control of SDS and SCN in soybean production. PMID:21675924

  6. The Fusarium virguliforme toxin FvTox1 causes foliar sudden death syndrome-like symptoms in soybean.

    PubMed

    Brar, Hargeet K; Swaminathan, Sivakumar; Bhattacharyya, Madan K

    2011-10-01

    Fusarium virguliforme causes sudden death syndrome (SDS) in soybean. The pathogen has never been isolated from diseased foliar tissues; therefore, one or more toxins have been considered to cause foliar SDS development. Cell-free F. virguliforme culture filtrates containing a toxin causes foliar SDS in soybean. A low-molecular-weight protein of approximately 13.5 kDa (FvTox1), purified from F. virguliforme culture filtrates, produces foliar SDS-like symptoms in cut soybean seedlings. Anti-FvTox1 monoclonal antibodies raised against the purified FvTox1 were used in isolating the FvTox1 gene. In the presence of light, recombinant FvTox1 protein expressed in an insect cell line resulted in chlorosis and necrosis in soybean leaf disks that are typical foliar SDS symptoms. SDS-susceptible but not the SDS-resistant soybean lines were sensitive to the baculovirus-expressed toxin. The requirement of light for foliar SDS-like symptom development indicates that FvTox1 induces foliar SDS in soybean, most likely through production of free radicals by interrupting photosynthesis. PMID:21635141

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

    ClinicalTrials.gov

    2016-02-23

    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

  8. Video-EEG analysis of drop seizures in myoclonic astatic epilepsy of early childhood (Doose syndrome).

    PubMed

    Oguni, H; Fukuyama, Y; Imaizumi, Y; Uehara, T

    1992-01-01

    We studied 36 drop seizures in 5 patients with myoclonic astatic epilepsy of early childhood (MAEE) with simultaneous split-screen video recording and polygraph. Sixteen were falling attacks and 20 were either less severe attacks exhibiting only deep head nodding or seizures equivalent to drop attacks in terms of ictal pattern but recorded in the supine position. All seizures except those that occurred in patients in the supine position showed sudden momentary head dropping or collapse of the whole body downward. Recovery to the preictal position was observed in 0.3-1 s. As a result of carefully repeated observations, the 36 seizures were classified as myoclonic flexor type in 9, myoclonic atonic type in 2, and atonic type, with and without transient preceding symptoms in the remaining 25. The MF seizure was characterized by sudden forward flexion of the head and trunk as well as both arms, which caused the patient to fall. In the myoclonic atonic seizure, patients showed brief myoclonic flexor spasms, immediately followed by atonic falling. The AT seizure showed abrupt atonic falling, with and without transient preceding facial expression change and/or twitching of extremities. The ictal EEGs of all 36 seizures exhibited generalized bilaterally synchronous single or multiple spike(s) and wave discharges. Atonic drop attacks appear to be a common cause of ictal epileptic falling in MAEE. PMID:1396420

  9. Respiratory paralysis in a child: The severe axonal variant of childhood Guillain-Barré syndrome

    PubMed Central

    Ravishankar, N.

    2015-01-01

    Guillain–Barre syndrome (GBS) is a common cause of acute flaccid paralysis in children. Axonal variants of this disease are rare, and frequently life-threatening or debilitating. The course and outcome of a 17-month-old child with acute flaccid paralysis including severe respiratory involvement are presented. GBS was suspected. Nerve conduction studies demonstrated acute motor-sensory axonal neuropathy including both phrenic nerves. The difficulties with the diagnosis and management of this severe and life-threatening condition are discussed. Significant morbidity is also highlighted. Axonal variants of GBS although rare cause significant morbidity in children. Diagnosis relies solely on accurate neurophysiologic testing and is important because the available treatment options for GBS are frequently ineffective in these variants. PMID:25878751

  10. [Electrodiagnostic criteria for childhood Guillain-Barre syndrome. Eight years' experience].

    PubMed

    Lopez-Esteban, Pilar; Gallego, Isabel; Gil-Ferrer, Victoria

    2013-03-01

    INTRODUCTION. The Guillan-Barre syndrome is the most frequent case of acute flacid paralysis in children. The diagnostic criteria differ according to the demyelinating or axonal variant and the prevalence by geographical area. The electro-myographic study permits identifying variants, evaluating the prognosis and predicting the evolution, is in addition an objective tool for the monitoring. AIM. To describe the electromyographic characteristics of the Guillain-Barre syndrome evaluated in hospital and its classification by physiopathological pattern. PATIENTS AND METHODS. All the cases diagnosed between 2005 and 2012 are included. Studies of motor and sensitive nervous conduction and F waves in 14 girls and 11 boys between 1 and 13 years of age. RESULTS. 19 cases of acute inflammatory demyelinating polyneuropathy (AIDP) and five of acute motor axonal neuropathy (AMAN) were diagnosed. The electromyogram was performed between 1 and 30 days after the beginning of symptoms. In AIDP cases, multifocal demyelination, four of them with the preserved sural and 13 with alteration and absence of F wave were objectified. In the cases of AMAN, four had low amplitude potential and in one of them they were not evoked. CONCLUSIONS. The demyelinating form of the illness is the most frequent although the high number of AMAN cases stands out, probably related to the population object of study. The evolution was favorable in three cases of motor axonal neuropathy and in 15 accute demyelinating polyneuropathy. In four cases the symptoms became chronic; three of them with persistent demyelination a similar occurrence in other studies with children. PMID:23440755

  11. The Relative Risk of Cardiovascular Death among Racial and Ethnic Minorities with Metabolic Syndrome: Data from the NHANES-II Mortality Follow-Up

    PubMed Central

    Martins, David; Tareen, Naureen; Ogedegbe, Godwin; Pan, Deyu; Norris, Keith

    2016-01-01

    The tendency for selected cardiovascular disease (CVD) risk factors to occur in clusters has led to the description of metabolic syndrome (MetS). The relative impact of the individual risk factor on the overall relative risk (RR) for cardiovascular death from metabolic syndrome is not well established and may differ across the different racial/ethnic groups. Using data from the National Health and Nutrition Examination Survey (NHANES II) mortality follow-up (NH2MS), we determined the prevalence and RR of cardiovascular death for individual components in the overall population and across racial and ethnic groups. The prevalence of MetS components varied significantly across gender and racial/ethnic groupings. The RR for CVD also varies for the number and different components of MetS. The adjusted RR for cardiovascular death was highest with diabetes (3.23; 95% CI: 2.70–3.88), elevated blood pressure (2.28; 95% CI: 1.94–2.67) and high triglycerides (1.63; 95% CI: 1.34–2.00). Although the RR for cardiovascular death differs significantly for some of the different components, the overall findings were similar across racial/ethnic groups. The two components that confer the highest risks for death are more prevalent in African Americans. We concluded that the RR of cardiovascular death associated with the diagnosis of MetS varies depending on the number and components used to establish the diagnosis of MetS and the racial/ethnic characteristic of the participants. PMID:18507210

  12. Impaired hypercarbic and hypoxic responses from developmental loss of cerebellar Purkinje neurons: Implications for sudden infant death syndrome

    PubMed Central

    Calton, M.; Dickson, P.; Harper, R.M.; Goldowitz, D.; Mittleman, G.

    2014-01-01

    Impaired responsivity to hypercapnia or hypoxia is commonly considered a mechanism of failure in Sudden Infant Death Syndrome (SIDS). The search for deficient brain structures mediating flawed chemosensitivity typically focuses on medullary regions; however, a network that includes Purkinje cells of the cerebellar cortex and its associated cerebellar nuclei also helps mediate responses to CO2 and O2 challenges, and assists integration of cardiovascular and respiratory interactions. Although cerebellar nuclei contributions to chemoreceptor challenges in adult models are well described, Purkinje cell roles in developing models are unclear. We used a model of developmental cerebellar Purkinje cell loss to determine if such loss influenced compensatory ventilatory responses to hypercapnic and hypoxic challenges. Twenty-four Lurcher mutant mice and wildtype controls were sequentially exposed to 2% increases in CO2 (0%-8%), or 2% reductions in O2 (21%-13%) over four minutes, with return to room air (21% O2 / 79% N2 / 0% CO2) between each exposure. Whole-body plethysmography was used to continuously monitor tidal volume (TV) and breath frequency (f). Increased f to hypercapnia was significantly lower in Mutants, slower to initiate, and markedly lower in compensatory periods, except for very high (8%) CO2 levels. The magnitude of TV changes to increasing CO2 appeared smaller in Mutants, but only approached significance. Smaller, but significant differences emerged in response to hypoxia, with Mutants showing smaller TV when initially exposed to reduced O2, and lower f following exposure to 17% O2. Since cerebellar neuropathology appears in SIDS victims, developmental cerebellar neuropathology may contribute to SIDS vulnerability. PMID:25132500

  13. 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. PMID:19729586

  14. 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. PMID:26833960

  15. Role of free radicals and antioxidant status in childhood nephrotic syndrome

    PubMed Central

    Ghodake, S. R.; Suryakar, A. N.; Ankush, R. D.; Katkam, R. V.; Shaikh, K.; Katta, A. V.

    2011-01-01

    Nephrotic syndrome (NS) is characterized by heavy proteinuria and hypoalbuminuria. Reactive oxygen species (ROS) seem to play an important role in the etiopathogenesis of proteinuria in NS. This study aims to evaluate the potential role of reactive oxygen species in pathogenesis of NS by estimating the levels of oxidants and antioxidants in children with NS. Thirty patients of NS and thirty age, sex-matched healthy subjects, were selected for the study. As compared to healthy controls, the levels of serum lipid peroxide were significantly elevated while levels of nitric oxide, erythrocyte-superoxide dismutase activity, levels of vitamin C, albumin and total antioxidant capacity were significantly reduced in nephrotic patients. The levels of uric acid and bilirubin were significantly increased in children with NS as compared to controls. There was no significant difference in vitamin E level between patients and controls. It can be concluded that increased ROS generation and decreased antioxidant defense may be related to the pathogenesis of proteinuria in NS. PMID:21655168

  16. Role of rufinamide in the management of Lennox-Gastaut syndrome (childhood epileptic encephalopathy)

    PubMed Central

    Kluger, Gerhard; Bauer, Bettina

    2007-01-01

    Rufinamide, a triazole derivative that is structurally distinct from currently marketed antiepileptic drugs (AEDs), is in development for the adjunctive treatment of Lennox-Gastaut syndrome (LGS) in children and adults. Rufinamide is well absorbed after oral administration, demonstrates low protein binding, and is metabolized by enzymatic hydrolysis without involvement of cytochrome P450 enzymes, conferring a low drug interaction potential. In a randomized, double-blind trial involving 138 adult and pediatric patients with LGS, compared with placebo, rufinamide 45 mg/kg/day resulted in significantly superior reductions in drop attacks (median change −42.5% vs +1.4% with placebo) and total seizures (−32.1% vs −11.7% with placebo), accompanied by significantly higher responder rates. These results are comparable with findings reported for other AEDs in randomized, controlled clinical trials in patients with LGS. Rufinamide produced statistically significant seizure reduction which was maintained during long-term therapy and accompanied by good tolerability. The most frequently reported adverse events from a pooled safety database evaluating short- and long-term therapy were headache (22.9% and 29.5%), dizziness (15.5% and 22.5%) and fatigue (13.6% and 17.7%). Rufinamide therefore presents a favorable efficacy and tolerability profile and is a promising candidate for the adjunctive therapy of LGS. PMID:19300535

  17. 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

  18. Markers of endothelial cell activation and injury in childhood haemolytic uraemic syndrome.

    PubMed

    Nevard, C H; Blann, A D; Jurd, K M; Haycock, G B; Hunt, B J

    1999-08-01

    Diarrhoea-associated haemolytic uraemic syndrome (D+ HUS) is usually caused by verotoxin-producing Escherichia coli. Histology shows endothelial swelling with localised thrombus. Activation of coagulation and fibrinolysis also occurs. These facts, combined with the knowledge that recovery usually follows within weeks, led us to hypothesise that verotoxin causes localised endothelial cell activation but not injury. Markers of endothelial cell activation and injury were measured serially in 30 children with acute D+ HUS, healthy children, and children receiving chronic dialysis. Interpretation of markers was complicated by the renal dysfunction characteristic of D+ HUS. Nevertheless there was no evidence for endothelial cell injury, as soluble tissue factor levels were not increased and soluble thrombomodulin levels were lower than dialysed controls (P<0.001). In the acute phase, soluble vascular cell adhesion molecule levels were raised above normal (P<0.001), but were lower than dialysed controls (P<0.001), and soluble E-selectin levels were not significantly increased compared with normal controls (P=0.2). Hence, there was no evidence for endothelial cell damage or endothelial cell activation by the time children reached hospital; but this study did not exclude the possibility that endothelial cell activation occurred prior to hospital admission. PMID:10452276

  19. Toll-like receptor 3 expression and function in childhood idiopathic nephrotic syndrome.

    PubMed

    Jamin, A; Dehoux, L; Dossier, C; Fila, M; Heming, N; Monteiro, R C; Deschênes, G

    2015-12-01

    The efficacy of steroids and immunosuppressive treatments in idiopathic nephrotic syndrome (INS) hints at the implication of immune cells in the pathophysiology of the disease. Toll-like receptor (TLR) dysfunctions are involved in many kidney diseases of immune origin, but remain little described in INS. We investigated the expression and function of TLRs in peripheral blood mononuclear cells (PBMC) of INS children, including 28 in relapse, 23 in remission and 40 controls. No child had any sign of infection, but a higher Epstein-Barr virus viral load was measured in the PBMC of relapsing patients. TLR-3 expression was increased in B cells only during INS remission. There was a negative correlation between proteinuria and TLR-3 expression in total and the main subsets of PBMC from INS patients. The expression of TLR-8 was also increased in both CD4(+) T cells and B cells in INS remission. There was a negative correlation between proteinuria and TLR-8 expression in total PBMC, CD4(+) T cells and B cells of INS patients. Nevertheless, TLR-3 and TLR-8 expression was normalized in all PBMC subsets in an additional group of 15 INS patients in remission with B cell repletion after rituximab therapy. Paradoxically, interferon (IFN) regulatory factor 3 transactivation was increased in PBMC of all INS patients. In-vitro secretion of IFN-α and interleukin 6 were increased spontaneously in PBMC of INS remission patients, whereas PBMC from all INS patients displayed an impaired IFN-α secretion after TLR-3 stimulation. Thus, TLR-3 pathway dysfunctions may be closely involved in INS pathogenesis. PMID:26123900

  20. Intravenous immunoglobulin in very severe childhood Guillain-Barré syndrome.

    PubMed

    Singhi, S C; Jayshree, M; Singhi, P; Banerjee, S; Prabhakar, S

    1999-06-01

    To evaluate intravenous immunoglobulin (IVIG) therapy in children with very severe Guilain-Barré syndrome (GBS) with reference to the need for respiratory support, ICU stay and long-term outcome, we studied 33 children with very severe GBS and quadriparesis and/or respiratory muscle weakness admitted to the Pediatric Intensive Care Unit (PICU) of PGIMER, Chandigarh. Cases (n = 22, IVIG group) were enrolled prospectively, and controls (n = 11), similar to cases in age and severity of illness, retrospectively. All children received similar supportive and respiratory care. In addition, cases were given IVIG (Sandoglobulin, Sandoz) 0.4 g/kg bodyweight per day for 5 days. The mean age, duration of symptoms prior to admission and severity of illness in the two groups were similar. In the IVIG group, onset of recovery of muscle power was significantly earlier (day 14.8 (6.8) of illness vs day 20.9 (8.6), p < 0.05) and the length of PICU stay significantly shorter (20.5 (13.0) days vs 50.5 (33.3) days, p < 0.01). Sixteen (72.7%) children in the IVIG group had improved by at least one functional grade after 1 month and 15 (68%) were walking independently after 3 months compared with two (18%) and four (36%) controls, respectively (p < 0.05). The number of children who needed endotracheal intubation and mechanical ventilation and the duration of mechanical ventilation was significantly less in the IVIG-treated group. We conclude that in very severe GBS in children IVIG therapy improves outcome to a remarkable extent, reduces the need for intubation and mechanical ventilation, shortens the length of stay in ICU, and promotes ambulation sooner. PMID:10690257

  1. 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

  2. Sudden infant death syndrome

    MedlinePlus

    ... the baby's body to detect a buildup of carbon dioxide in the blood SIDS rates have gone down sharply since doctors began recommending that babies be put on their backs or sides to sleep to reduce the chance of problem. However, SIDS is still ...

  3. 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

  4. Childhood obesity.

    PubMed

    Seth, Anju; Sharma, Rajni

    2013-04-01

    Childhood obesity is an issue of serious medical and social concern. In developing countries including India, it is a phenomenon seen in higher socioeconomic strata due to the adoption of a western lifestyle. Consumption of high calorie food, lack of physical activity and increased screen time are major risk factors for childhood obesity apart from other genetic, prenatal factors and socio-cultural practices. Obese children and adolescents are at increased risk of medical and psychological complications. Insulin resistance is commonly present especially in those with central obesity and manifests as dyslipidemia, type 2 diabetes mellitus, impaired glucose tolerance, hypertension, polycystic ovarian syndrome and metabolic syndrome. Obese children and adolescents often present to general physicians for management. The latter play a key role in prevention and treatment of obesity as it involves lifestyle modification of the entire family. This article aims at discussing the approach to diagnosis and work-up, treatment and preventive strategies for childhood obesity from a general physician's perspective. PMID:23255079

  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. Infant care practices related to sudden infant death syndrome in South Asian and White British families in the UK.

    PubMed

    Ball, Helen L; Moya, Eduardo; Fairley, Lesley; Westman, Janette; Oddie, Sam; Wright, John

    2012-01-01

    In the UK, infants of South Asian parents have a lower rate of sudden infant death syndrome (SIDS) than White British infants. Infant care and life style behaviours are strongly associated with SIDS risk. This paper describes and explores variability in infant care between White British and South Asian families (of Bangladeshi, Indian or Pakistani origin) in Bradford, UK (the vast majority of which were Pakistani) and identifies areas for targeted SIDS intervention. A cross-sectional telephone interview study was conducted involving 2560 families with 2- to 4-month-old singleton infants enrolled in the Born in Bradford cohort study. Outcome measures were prevalence of self-reported practices in infant sleeping environment, sharing sleep surfaces, breast feeding, use of dummy or pacifier, and life style behaviours. We found that, compared with White British infants, Pakistani infants were more likely to: sleep in an adult bed (OR = 8.48 [95% CI 2.92, 24.63]); be positioned on their side for sleep (OR = 4.42 [2.85, 6.86]); have a pillow in their sleep environment (OR = 9.85 [6.39, 15.19]); sleep under a duvet (OR = 3.24 [2.39, 4.40]); be swaddled for sleep (OR = 1.49 [1.13, 1.97]); ever bed-share (OR = 2.13 [1.59, 2.86]); regularly bed-share (OR = 3.57 [2.23, 5.72]); ever been breast-fed (OR = 2.00 [1.58, 2.53]); and breast-fed for 8+ weeks (OR = 1.65 [1.31, 2.07]). Additionally, Pakistani infants were less likely to: sleep in a room alone (OR = 0.05 [0.03, 0.09]); use feet-to-foot position (OR = 0.36 [0.26, 0.50]); sleep with a soft toy (OR = 0.52 [0.40, 0.68]); use an infant sleeping bag (OR = 0.20 [0.16, 0.26]); ever sofa-share (OR = 0.22 [0.15, 0.34]); be receiving solid foods (OR = 0.22 [0.17, 0.30]); or use a dummy at night (OR = 0.40 [0.33, 0.50]). Pakistani infants were also less likely to be exposed to maternal smoking (OR = 0.07 [0.04, 0.12]) and to alcohol consumption by either parent. No difference was found in the prevalence of prone sleeping (OR = 1

  7. Synaptogenesis and Myelination in the Nucleus/Tractus Solitarius: Potential Role in Apnea of Prematurity, Congenital Central Hypoventilation, and Sudden Infant Death Syndrome.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2016-05-01

    Fetuses as early as 15 weeks' gestation exhibit rhythmical respiratory movements shown by real-time ultrasonography. The nucleus/tractus solitarius is the principal brainstem respiratory center; other medullary nuclei also participate. The purpose was to determine temporal maturation of synaptogenesis. Delayed synaptic maturation may explain neurogenic apnea or hypoventilation of prematurity and some cases of sudden infant death syndrome. Sections of medulla oblongata were studied from 30 human fetal and neonatal brains 9 to 41 weeks' gestation. Synaptophysin demonstrated the immunocytochemical sequence of synaptogenesis. Other neuronal markers and myelin stain also were applied. The nucleus/tractus solitarius was similarly studied in fetuses with chromosomopathies, metabolic encephalopathies, and brain malformations. Synapse formation in the nucleus solitarius begins at about 12 weeks' gestation and matures by 15 weeks; myelination initiated at 33 weeks. Synaptogenesis was delayed in 3 fetuses with different conditions, but was not specific for only nucleus solitarius. Delayed synaptogenesis or myelination in the nucleus solitarius may play a role in neonatal hypoventilation, especially in preterm infants and in some sudden infant death syndrome cases. PMID:26661483

  8. 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. PMID:26905825

  9. Causes of Death and Autopsy Findings in a Large Study Cohort of Individuals with Cornelia de Lange Syndrome and Review of the Literature

    PubMed Central

    Schrier, Samantha A.; Sherer, Ilana; Deardorff, Matthew A.; Clark, Dinah; Audette, Lynn; Gillis, Lynette; Kline, Antonie D.; Ernst, Linda; Loomes, Kathy; Krantz, Ian D.; Jackson, Laird G.

    2011-01-01

    To identify causes of death (COD) in propositi with Cornelia de Lange syndrome (CdLS) at various ages, and to develop guidelines to improve management and avoid morbidity and mortality, we retrospectively reviewed a total of 426 propositi with confirmed clinical diagnoses of CdLS in our database who died in a 41-year period between 1966–2007. Of these, 295 had an identifiable COD reported to us. Clinical, laboratory and complete autopsy data were completed on 41, of which 38 were obtainable, an additional 19 had autopsies that only documented the COD, and 45 propositi had surgical, imaging, or terminal event clinical documentation of their COD. Proband ages ranged from fetuses (21 to 40 weeks gestation) to 61 years. A literature review was undertaken to identify all reported causes of death in CdLS individuals. In our cohort of 295 propositi with a known COD, respiratory causes including aspiration/reflux and pneumonias were the most common primary causes (31%), followed by gastrointestinal disease, including obstruction/volvulus (19%). Congenital anomalies accounted for 15% of deaths and included congenital diaphragmatic hernia and congenital heart defects. Acquired cardiac disease accounted for 3% of deaths. Neurological causes and accidents each accounted for 8%, sepsis for 4%, cancer for 2%, renal disease for 1.7%, and other causes, 9% of deaths. We also present 21 representative clinical cases for illustration. This comprehensive review has identified important etiologies contributing to the morbidity and mortality in this population that will provide for an improved understanding of clinical complications, and management for children and adults with CdLS. PMID:22069164

  10. Childhood Nephrotic Syndrome

    MedlinePlus

    ... Griffin Rodgers, Director of the NIDDK Clinical Trials Current research studies and how you can volunteer Community Outreach and Health Fairs Science-based information and tips for planning an outreach effort or community event For Health Care Professionals Patient and provider resources ...

  11. Childhood Nephrotic Syndrome

    MedlinePlus

    ... decrease the loss of albumin in the urine dialysis to artificially filter wastes from the blood if ... chronic_kidney_disease.html What’s the Deal With Dialysis? www.kidshealth.org/kid/feel_better/things/dialysis. ...

  12. Methylation of BDNF in women with bulimic eating syndromes: associations with childhood abuse and borderline personality disorder.

    PubMed

    Thaler, Lea; Gauvin, Lise; Joober, Ridha; Groleau, Patricia; de Guzman, Rosherrie; Ambalavanan, Amirthagowri; Israel, Mimi; Wilson, Samantha; Steiger, Howard

    2014-10-01

    DNA methylation allows for the environmental regulation of gene expression and is believed to link environmental stressors to such mental-illness phenotypes as eating disorders. Numerous studies have shown an association between bulimia nervosa (BN) and variations in brain-derived neurotrophic factor (BDNF). BDNF has also been linked to borderline personality disorder (BPD) and to such traits as reward dependence. We examined the extent to which BDNF methylation corresponded to bulimic or normal-eater status, and also to the presence of comorbid borderline personality disorder (BPD) and childhood abuse. Our sample consisted of 64 women with BN and 32 normal-eater (NE) control women. Participants were assessed for eating-disorder symptoms, comorbid psychopathology, and childhood trauma, and then they were required to provide blood samples for methylation analyses. We observed a significant site×group (BN vs. NE) interaction indicating that women with BN showed increases in methylation at specific regions of the BDNF promoter. Furthermore, examining effects of childhood abuse and BPD, we observed significant site×group interactions such that groups composed of individuals with childhood abuse or BPD had particularly high levels of methylation at selected CpG sites. Our findings suggest that BN, especially when co-occurring with childhood abuse or BPD, is associated with a propensity towards elevated methylation at specific BDNF promoter region sites. These findings imply that hypermethylation of the BDNF gene may be related to eating disorder status, developmental stress exposure, and comorbid psychopathology. PMID:24801751

  13. 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

  14. Validity of the GRACE (Global Registry of Acute Coronary Events) acute coronary syndrome prediction model for six month post‐discharge death in an independent data set

    PubMed Central

    Bradshaw, P J; Ko, D T; Newman, A M; Donovan, L R

    2006-01-01

    Objective To determine the validity of the GRACE (Global Registry of Acute Coronary Events) prediction model for death six months after discharge in all forms of acute coronary syndrome in an independent dataset of a community based cohort of patients with acute myocardial infarction (AMI). Design Independent validation study based on clinical data collected retrospectively for a clinical trial in a community based population and record linkage to administrative databases. Setting Study conducted among patients from the EFFECT (enhanced feedback for effective cardiac treatment) study from Ontario, Canada. Patients Randomly selected men and women hospitalised for AMI between 1999 and 2001. Main outcome measure Discriminatory capacity and calibration of the GRACE prediction model for death within six months of hospital discharge in the contemporaneous EFFECT AMI study population. Results Post‐discharge crude mortality at six months for the EFFECT study patients with AMI was 7.0%. The discriminatory capacity of the GRACE model was good overall (C statistic 0.80) and for patients with ST segment elevation AMI (STEMI) (0.81) and non‐STEMI (0.78). Observed and predicted deaths corresponded well in each stratum of risk at six months, although the risk was underestimated by up to 30% in the higher range of scores among patients with non‐STEMI. Conclusions In an independent validation the GRACE risk model had good discriminatory capacity for predicting post‐discharge death at six months and was generally well calibrated, suggesting that it is suitable for clinical use in general populations. PMID:16387810

  15. The long Q-T syndromes.

    PubMed

    Gordon, N

    1994-01-01

    Loss of consciousness in childhood may be due to cardiovascular causes, and the Long Q-T syndromes can present with seizures. The Romano-Ward syndrome is of autosomal dominant inheritance, and the Jervell and Lange-Nielson syndrome, with associated deafness, of autosomal recessive inheritance. The diagnosis is often delayed, but a careful history can avoid this. The syndromes can appear to be due to an imbalance in the sympathetic nerve to the ventricular myocardium, and precipitating causes such as stress suggest a CNS influence on this. The electrocardiogram can confirm the prolonged Q-T interval, but this is not always present, at least without an exercise test. Treatment with beta-blockers is often successful. If a wrong diagnosis of epilepsy is made a chance may be missed of avoiding sudden death, quite apart from all the medical, and social consequences that can result from such a diagnosis. PMID:8048706

  16. 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)

  17. Controlled trial of disodium cromoglycate in prevention of relapse of steroid-responsive nephrotic syndrome of childhood.

    PubMed Central

    Trompeter, R S; Thomson, P D; Barratt, T M; Soothill, J F

    1978-01-01

    A controlled trial of disodium cromoglycate treatment of steroid-responsive nephrotic syndrome failed to show a therapeutic effect on the tendency to relapse after withdrawal of corticosteroids. PMID:96741

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

    PubMed

    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

  19. 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

  20. 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. PMID:17998565

  1. Rights of Children, 1972. Hearing before the Subcommittee on Children and Youth of the Committee on Labor Welfare, United States Senate, Ninety-Second Congress, Second Session. Part 1: Examination of the Sudden Infant Death Syndrome.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. Senate Committee on Labor and Public Welfare.

    A hearing held to discover the medical cause of Sudden Infant Death Syndrome (SIDS) and ways to prevent it is reported. The hearing sought in particular to: learn about past and present research efforts; explore the prospects for discovering the cause and preventing future occurrences of SIDS; understand the scope of activity within HEW, to inform…

  2. 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,…

  3. Childhood aphasias.

    PubMed

    Martins, I P

    1997-01-01

    The study of acquired childhood aphasia has shown that the aphasic syndromes found in adults are reproducible in children with identical lesion sites and that some brain areas are essential for aphasia recovery. Besides, language deficits and learning difficulties are very common in the long-term follow-up of those children. This suggests that the adult pattern of cerebral organization for speech is established early in life and alternative organizations have a lasting price. Yet in contradiction with this, children with focal lesions sustained pre- or perinatally do not show developmentally the aphasic syndromes observed in older children and adults. One possible explanation is that the areas responsible for learning a function are different from those subserving that function as a more mature stage of development. Concerning specific language impairment in children, there is a growing evidence that such syndromes are genetically determined, but there is still a missing link between this predisposition and the structural/functional defects underlying them. The finding that these children are often impaired in other areas of mental development indicates that there may be a more basic cognitive defect underlying their language disorders. PMID:9059756

  4. Light is essential for degradation of ribulose-1,5-bisphosphate carboxylase-oxygenase large subunit during sudden death syndrome development in soybean.

    PubMed

    Ji, J; Scott, M P; Bhattacharyya, M K

    2006-09-01

    FUSARIUM SOLANI f. sp. GLYCINES (Fsg) has been reported to produce at least two phytotoxins. Cell-free FSG culture filtrates containing phytotoxins have been shown to develop foliar sudden death syndrome (SDS) in soybean. We have investigated the changes in protein profiles of diseased leaves caused by cell-free FSG culture filtrates prepared from FSG isolates. Two-dimensional sodium dodecyl sulfate-polyacrylamide gel electrophoresis (PAGE) was conducted to investigate the protein profiles of diseased and healthy leaves. An approximately 55 kDa protein was found to be absent in diseased leaves. Matrix-assisted laser desorption-ionization time-of-flight mass spectrometric analyses and a database search revealed that the missing protein is the ribulose 1,5-bisphosphate carboxylase/oxygenase (Rubisco) large subunit, which is involved in carbon assimilation and photorespiration. This result was confirmed by Western blot experiments. We have shown that light is essential for disappearance of the Rubisco large subunit initiated by cell-free FSG culture filtrates. The disappearance of the protein is fairly rapid and occurs within 24 h, presumably due to degradation. Cell-free, FSG culture-induced degradation of the Rubisco large subunit was accompanied by accumulation of reactive oxygen species under light conditions. Terminal deoxynucleotidyl transferase-mediated nick end labelling experiments suggested that programmed cell death was initiated in leaves of seedlings fed with cell-free FSG culture filtrates. These results suggest that, in the presence of light, FSG culture filtrates containing phytotoxins cause degradation of the Rubisco large subunit and accumulation of free radicals and, thereby, initiate programmed cell death leading to foliar SDS development in soybean. PMID:16821191

  5. 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…

  6. CHADS2 and CHA2DS2-VASc score to assess risk of stroke and death in patients paced for sick sinus syndrome

    PubMed Central

    Svendsen, Jesper Hastrup; Nielsen, Jens Cosedis; Darkner, Stine; Jensen, Gunnar Vagn Hagemann; Mortensen, Leif Spange; Andersen, Henning Rud

    2013-01-01

    Objective The risk of stroke in patients with atrial fibrillation (AF) can be assessed by use of the CHADS2 and the CHA2DS2-VASc score system. We hypothesised that these risk scores and their individual components could also be applied to patients paced for sick sinus syndrome (SSS) to evaluate risk of stroke and death. Design Prospective cohort study. Settings All Danish pacemaker centres and selected centres in the UK and Canada. Patients Risk factors were recorded prior to pacemaker implantation in 1415 patients with SSS participating in the Danish Multicenter Randomized Trial on Single Lead Atrial Pacing versus Dual Chamber Pacing in Sick Sinus Syndrome (Danpace) trial. Development of stroke was assessed at follow-up visits and by evaluation of patient charts. Mortality was assessed from the civil registration system. Interventions Patients were randomised to AAIR (N=707) or DDDR pacing (N=708). Main outcome measures Stroke and death during follow-up. Results Mean follow-up was 4.3±2.5 years. In the AAIR group 6.9% patients developed stroke versus 6.1% in the DDDR group (NS). There was a significant association between CHADS2 score and the development of stroke (HR 1.41; 95% CI 1.22 to 1.64, p<0.001). CHA2DS2-VASc score was also significantly associated with stroke (HR 1.25; CI 1.12 to 1.40, p<0.001). CHADS2 score (HR 1.46; CI 1.36 to 1.56, p<0.001) and CHA2DS2-VASc score (HR 1.39; CI 1.31 to 1.46, p<0.001) were associated with mortality. Results were still significant after adjusting for AF and anticoagulation therapy. Conclusions CHADS2 and CHA2DS2-VASc score are associated with increased risk of stroke and death in patients paced for SSS irrespective of the presence of AF. PMID:23539553

  7. Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature.

    PubMed

    Sharma, Deepak; Shastri, Sweta; Pandita, Aakash; Sharma, Pradeep

    2016-06-01

    Thrombotic thrombocytopenic purpura (TTP) is a rare disorder in children characterized by microangiopathic hemolytic anemia (MAHA) and thrombocytopenia. The classic Moschcowitz Pentads of TTP include hemolytic anemia, with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decrease renal function and fever. We report a newborn who was diagnosed with congenital TTP. The newborn was admitted at age of 40 h, in our hospital, in view of respiratory distress with impending respiratory failure and red colored urine. On examination, the newborn was febrile, tachypneic, had deep icterus, pallor and no hepatosplenomegaly. Family history was significant with one unexplained neonatal death at age of 24 with symptoms of red colored urine. Examination of peripheral smear was diagnostic with the presence of fragmented RBCS, giant but fewer platelets consistent with a diagnosis of MAHA. The diagnosis of TTP was confirmed with low ADAMTS activity and gene analysis showed c 2203 G > T-p.Glu735X (domain TSP1-2) mutation in exon 18 of ADAMTS 13 gene. The newborn had rapid deterioration, with respiratory distress and refractory shock leading to death. Post-mortem bone marrow done showed marrow hyperplasia. PMID:26365135

  8. Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome.

    PubMed

    Freriks, K; Verhaak, C M; Sas, T C J; Menke, L A; Wit, J M; Otten, B J; de Muinck Keizer-Schrama, S M P F; Smeets, D F C M; Netea-Maier, R T; Hermus, A R M M; Kessels, R P C; Timmers, H J L M

    2015-03-01

    Turner syndrome (TS) is the result of (partial) absence of one X-chromosome. Besides short stature, gonadal dysgenesis and other physical aspects, TS women have typical psychological features. Since psychological effects of androgen exposure in childhood probably are long-lasting, we explored long-term psychological functioning after oxandrolone (Ox) therapy during childhood in adults with TS in terms of neurocognition, quality of life and social-emotional functioning. During the initial study, girls were treated with growth hormone (GH) combined with placebo (Pl), Ox 0.03 mg/kg/day, or Ox 0.06 mg/kg/day from the age of eight, and estrogen from the age of twelve. Sixty-eight women participated in the current double-blinded follow-up study (mean age 24.0 years, mean time since stopping GH/Ox 8.7 years). We found no effects on neurocognition. Concerning quality of life women treated with Ox had higher anxiety levels (STAI 37.4 ± 8.4 vs 31.8 ± 5.0, p=0.002) and higher scores on the depression subscale of the SCL-90-R (25.7 ± 10.7 vs 20.5 ± 4.7, p=0.01). Regarding social-emotional functioning, emotion perception for fearful faces was lower in the Ox-treated patients, without effect on interpersonal behavior. Our exploratory study is the first to suggest that androgen treatment in adolescence possibly has long-term effects on adult quality of life and social-emotional functioning. However, differences are small and clinical implications of our results seem limited. Therefore we would not recommend against the use of Ox in light of psychological consequences. PMID:25562712

  9. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86. ... Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir ...

  10. Childhood Disintegrative Disorder.

    ERIC Educational Resources Information Center

    Malhotra, Savita; Gupta, Nitin

    1999-01-01

    This article reviews what is known about childhood distintegrative disorder (CDD), a clinical syndrome characterized by disintegration of mental functions and regression of acquired language and intellectual functions after a period (usually 3-4 years) of normal development. It reviews the condition's epidemiology, onset and progression,…

  11. 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…

  12. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  13. Childhood obesity.

    PubMed

    Han, Joan C; Lawlor, Debbie A; Kimm, Sue Y S

    2010-05-15

    Worldwide prevalence of childhood obesity has increased greatly during the past three decades. The increasing occurrence in children of disorders such as type 2 diabetes is believed to be a consequence of this obesity epidemic. Much progress has been made in understanding of the genetics and physiology of appetite control and from these advances, elucidation of the causes of some rare obesity syndromes. However, these rare disorders have so far taught us few lessons about prevention or reversal of obesity in most children. Calorie intake and activity recommendations need reassessment and improved quantification at a population level because of sedentary lifestyles of children nowadays. For individual treatment, currently recommended calorie prescriptions might be too conservative in view of evolving insight into the so-called energy gap. Although quality of research into both prevention and treatment has improved, high-quality multicentre trials with long-term follow-up are needed. Meanwhile, prevention and treatment approaches to increase energy expenditure and decrease intake should continue. Recent data suggest that the spiralling increase in childhood obesity prevalence might be abating; increased efforts should be made on all fronts to continue this potentially exciting trend. PMID:20451244

  14. Effects of Low-Dose Estrogen Replacement During Childhood on Pubertal Development and Gonadotropin Concentrations in Patients With Turner Syndrome: Results of a Randomized, Double-Blind, Placebo-Controlled Clinical Trial

    PubMed Central

    Wan, Xiaohai; Garg, Sipi; Kowal, Karen; Cutler, Gordon B.; Ross, Judith L.

    2014-01-01

    Context: The optimal approach to estrogen replacement in girls with Turner syndrome has not been determined. Objective: The aim of the study was to assess the effects of an individualized regimen of low-dose ethinyl estradiol (EE2) during childhood from as early as age 5, followed by a pubertal induction regimen starting after age 12 and escalating to full replacement over 4 years. Design: This study was a prospective, randomized, double-blind, placebo-controlled clinical trial. Setting: The study was conducted at two US pediatric endocrine centers. Subjects: Girls with Turner syndrome (n = 149), aged 5.0–12.5 years, were enrolled; data from 123 girls were analyzable for pubertal onset. Intervention(s): Interventions comprised placebo or recombinant GH injections three times a week, with daily oral placebo or oral EE2 during childhood (25 ng/kg/d, ages 5–8 y; 50 ng/kg/d, ages >8–12 y); after age 12, all patients received escalating EE2 starting at a nominal dosage of 100 ng/kg/d. Placebo/EE2 dosages were reduced by 50% for breast development before age 12 years, vaginal bleeding before age 14 years, or undue advance in bone age. Main Outcome Measures: The main outcome measures for this report were median ages at Tanner breast stage ≥2, median age at menarche, and tempo of puberty (Tanner 2 to menarche). Patterns of gonadotropin secretion and impact of childhood EE2 on gonadotropins also were assessed. Results: Compared with recipients of oral placebo (n = 62), girls who received childhood low-dose EE2 (n = 61) had significantly earlier thelarche (median, 11.6 vs 12.6 y, P < 0.001) and slower tempo of puberty (median, 3.3 vs 2.2 y, P = 0.003); both groups had delayed menarche (median, 15.0 y). Among childhood placebo recipients, girls who had spontaneous breast development before estrogen exposure had significantly lower median FSH values than girls who did not. Conclusions: In addition to previously reported effects on cognitive measures and GH

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

    PubMed Central

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

    2014-01-01

    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. PMID:25267002

  16. Genetics Home Reference: Timothy syndrome

    MedlinePlus

    ... cause irregular heartbeats (arrhythmia), which can lead to sudden death. Many people with Timothy syndrome are also born ... syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does ...

  17. The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome

    PubMed Central

    Zheng, Jinxiang; Zhou, Feng; Su, Terry; Huang, Lei; Wu, Yeda; Yin, Kun; Wu, Qiuping; Tang, Shuangbo; Makielski, Jonathan C.; Cheng, Jianding

    2016-01-01

    Abstract Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified as the first genetic cause of Chinese SUNDS by us. The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease. To test our hypothesis that slight acidosis conditions may contribute to the significant loss of function of mutant cardiac sodium channels underlying SUNDS, the biophysical characterization of SCN5A mutation R1512W was performed under both extracellular and intracellular slight acidosis at pH 7.0. The cDNA of R1512W was created using site-directed mutagenesis methods in the pcDNA3 plasmid vector. The wild type (WT) or mutant cardiac sodium channel R1512W was transiently transfected into HEK293 cells. Macroscopic voltage-gated sodium current (INa) was measured 24 hours after transfection with the whole-cell patch clamp method at room temperature in the HEK293 cells. Under the baseline conditions at pH 7.4, R1512W (−175 ± 15 pA/pF) showed about 30% of reduction in peak INa compared to WT (−254 ± 23 pA/pF, P < 0.05). Under the acidosis condition at pH 7.0, R1512W (−130 ± 17 pA/pF) significantly decreased the peak INa by nearly 50% compared to WT (−243 ± 23 pA/pF, P < 0.005). Compared to baseline condition at pH 7.4, the acidosis at pH 7.0 did not affect the peak INa in WT (P > 0.05) but decreased peak INa in R1512W (P < 0.05). This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested

  18. The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

    PubMed

    Zheng, Jinxiang; Zhou, Feng; Su, Terry; Huang, Lei; Wu, Yeda; Yin, Kun; Wu, Qiuping; Tang, Shuangbo; Makielski, Jonathan C; Cheng, Jianding

    2016-06-01

    Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified as the first genetic cause of Chinese SUNDS by us. The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease. To test our hypothesis that slight acidosis conditions may contribute to the significant loss of function of mutant cardiac sodium channels underlying SUNDS, the biophysical characterization of SCN5A mutation R1512W was performed under both extracellular and intracellular slight acidosis at pH 7.0. The cDNA of R1512W was created using site-directed mutagenesis methods in the pcDNA3 plasmid vector. The wild type (WT) or mutant cardiac sodium channel R1512W was transiently transfected into HEK293 cells. Macroscopic voltage-gated sodium current (INa) was measured 24 hours after transfection with the whole-cell patch clamp method at room temperature in the HEK293 cells. Under the baseline conditions at pH 7.4, R1512W (-175 ± 15 pA/pF) showed about 30% of reduction in peak INa compared to WT (-254 ± 23 pA/pF, P < 0.05). Under the acidosis condition at pH 7.0, R1512W (-130 ± 17 pA/pF) significantly decreased the peak INa by nearly 50% compared to WT (-243 ± 23 pA/pF, P < 0.005). Compared to baseline condition at pH 7.4, the acidosis at pH 7.0 did not affect the peak INa in WT (P > 0.05) but decreased peak INa in R1512W (P < 0.05). This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested that nocturnal sleep

  19. 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. PMID:9464913

  20. 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).…

  1. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

    PubMed

    Ohba, Chihiro; Nabatame, Shin; Iijima, Yoshitaka; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Tanaka, Fumiaki; Ozono, Keiichi; Saitsu, Hirotomo; Matsumoto, Naomichi

    2014-05-01

    Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations. PMID:24621584

  2. Clinicopathologic significance of immunostaining of α-thalassemia/mental retardation syndrome X-linked protein and death domain-associated protein in neuroendocrine tumors.

    PubMed

    Chen, Shi-Fan; Kasajima, Atsuko; Yazdani, Samaneh; Chan, Monica S M; Wang, Lin; He, Yang-Yang; Gao, Hong-Wen; Sasano, Hironobu

    2013-10-01

    α-Thalassemia/mental retardation syndrome X-linked protein (ATRX) and death domain-associated protein (DAXX) genes are tumor suppressors whose mutations have been identified in sporadic pancreatic neuroendocrine tumors as well as in patients with MEN1. However, it is unknown whether ATRX and DAXX alterations are specific for pancreatic neuroendocrine tumor. In addition, the association of ATRX/DAXX protein loss with tumor cell proliferation has not been examined. We, therefore, immunostained ATRX and DAXX in 10 gastric, 15 duodenal, 20 rectal, 70 pancreatic, and 22 pulmonary neuroendocrine tumors with 15 nonneoplastic pancreases and 27 pancreatic adenocarcinomas to elucidate the site-specific roles of ATRX/DAXX abnormalities. At least 1 loss of ATRX and DAXX immunoreactivity was detected in all neuroendocrine tumor cases but not in any of nonneoplastic pancreatic tissues or pancreatic adenocarcinomas. The loss of DAXX protein was correlated with the Ki-67 index (ATRX, P = .904; DAXX, P = .044). The status of DAXX immunoreactivity correlated positively with World Health Organization histologic grade (P = .026). These results suggest that the status of ATRX or DAXX protein loss in neuroendocrine tumor differed among the organs in which these tumors arose, and these proteins may play site-specific roles in the development of these tumors. PMID:23954140

  3. 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.

  4. 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

  5. Phylogenetic relationships of the soybean sudden death syndrome pathogen Fusarium solani f. sp. phaseoli inferred from rDNA sequence data and PCR primers for its identification.

    PubMed

    O'Donnell, K; Gray, L E

    1995-01-01

    Phylogenetic relationships of several species within the Fusarium solani-complex were investigated using characters from the nuclear ribosomal DNA. Genetic variation within 24 isolates, including 5 soybean sudden death syndrome (SDS) strains, was assessed using rDNA sequence data and restriction fragment length polymorphic markers. By these techniques, the causal agent of soybean SDS was identified as F. solani f. sp. phaseoli. In separate cladistic analyses, Plectosphaerella cucumerina and Nectria cinnabarina or F. ventricosum were used for rooting purposes. Monophyly of the F. solani-complex was strongly supported by bootstrap and decay analyses. Parsimony analysis indicates that this complex is composed of a number of phylogenetically distinct species, including Neocosmospora vasinfecta, F. solani f. sp. phaseoli, and biological species designated as MPI, MPV, and MPVI of N. haematococca. The results demonstrate complete congruence between biological and phylogenetic species within the N. haematococca-complex. In addition, DNA sequence data were used to design a PCR primer pair which could specifically amplify DNA from isolates of the SDS pathogen from infected plants. PMID:7579615

  6. Identification of Multiple Phytotoxins Produced by Fusarium virguliforme Including a Phytotoxic Effector (FvNIS1) Associated With Sudden Death Syndrome Foliar Symptoms.

    PubMed

    Chang, Hao-Xun; Domier, Leslie L; Radwan, Osman; Yendrek, Craig R; Hudson, Matthew E; Hartman, Glen L

    2016-02-01

    Sudden death syndrome (SDS) of soybean is caused by a soilborne pathogen, Fusarium virguliforme. Phytotoxins produced by F. virguliforme are translocated from infected roots to leaves, in which they cause SDS foliar symptoms. In this study, additional putative phytotoxins of F. virguliforme were identified, including three secondary metabolites and 11 effectors. While citrinin, fusaric acid, and radicicol induced foliar chlorosis and wilting, Soybean mosaic virus (SMV)-mediated overexpression of F. virguliforme necrosis-inducing secreted protein 1 (FvNIS1) induced SDS foliar symptoms that mimicked the development of foliar symptoms in the field. The expression level of fvnis1 remained steady over time, although foliar symptoms were delayed compared with the expression levels. SMV::FvNIS1 also displayed genotype-specific toxicity to which 75 of 80 soybean cultivars were susceptible. Genome-wide association mapping further identified three single nucleotide polymorphisms at two loci, where three leucine-rich repeat receptor-like protein kinase (LRR-RLK) genes were found. Culture filtrates of fvnis1 knockout mutants displayed a mild reduction in phytotoxicity, indicating that FvNIS1 is one of the phytotoxins responsible for SDS foliar symptoms and may contribute to the quantitative susceptibility of soybean by interacting with the LRR-RLK genes. PMID:26646532

  7. Multigeneic QTL: the laccase encoded within the soybean Rfs2/rhg1 locus inferred to underlie part of the dual resistance to cyst nematode and sudden death syndrome.

    PubMed

    Iqbal, M J; Ahsan, R; Afzal, A J; Jamai, A; Meksem, K; El-Shemy, H A; Lightfoot, D A

    2009-01-01

    Multigeneic QTL present significant problems to analysis. Resistance to soybean (Glycine max (L) Merr.) sudden death syndrome (SDS) caused by Fusarium virguliforme was partly underlain by QRfs2 that was clustered with, or pleiotropic to, the multigeneic rhg1 locus providing resistance to soybean cyst nematode (SCN; Heterodera glycines). A group of five genes were found between the two markers that delimited the Rfs2/rhg1 locus. One of the five genes was predicted to encode an unusual diphenol oxidase (laccase; EC 1.10.3.2). The aim of this study was to characterize this member of the soybean laccase gene-family and explore its involvement in SDS resistance. A genomic clone and a full length cDNA was isolated from resistant cultivar 'Forrest' that were different among susceptible cultivars 'Asgrow 3244' and 'Williams 82' at four residues R/H168, I/M271, R/H330, E/K470. Additional differences were found in six of the seven introns and the promoter region. Transcript abundance (TA) among genotypes that varied for resistance to SDS or SCN did not differ significantly. Therefore the protein activity was inferred to underlie resistance. Protein expressed in yeast pYES2/NTB had weak enzyme activity with common substrates but good activity with root phenolics. The Forrest isoform may underlie both QRfs2 and rhg1. PMID:19193960

  8. Down syndrome and arterial ischemic stroke in childhood: a potential immunologic link with selective IgG4 subclass deficiency.

    PubMed

    Pavone, Piero; Falsaperla, Raffaele; De Silva, Kasun; Taibi, Rosaria; Verrotti, Alberto; Trifiletti, Rosario R; Vitaliti, Giovanna

    2014-07-01

    We report four children with Down Syndrome (DS) without evidence of congenital heart disease who sustained cerebral infarction in the context of an infectious disease. In one child, stroke occurred in the context of acute infection with Mycoplasma pneumonia. In another child, stroke occurred in the context of Streptococcus oralis (viridans subgroup) infection. In two other children, stroke occurred in the context of a bibasilar pneumonia for which an etiologic agent was not found. All patients had evidence of selective IgG4 subclass deficiency. We followed 8 other children with down syndrome with infectious diseases, but without stroke and a control group of healthy children, and measured the value of IgG4 for each group. We found a statistical significant difference of levels of IgG4 subclass deficiency in the group of stroke, in comparison with the other two groups (P values <0.001). We, therefore, suggest an association between IgG4 subclass deficiency and stroke in DS patients. IgG4 subclass deficiency could conceivably play a role in the high frequency of para-infectious related stroke in this population. PMID:24613243

  9. Fatal measles presenting as acute respiratory distress syndrome in an immunocompetent adult

    PubMed Central

    Karanth, Suman S; Marupudi, Krishna Chaitanya; Gupta, Anurag; Rau, Nileshwar Radhakrishna

    2014-01-01

    Fatal measles is known to occur among immunocompromised adults. We report a rare case of an immunocompetent non-pregnant young lady who suffered from fatal acute respiratory distress syndrome due to measles. Physicians must be vigilant to this deadly presentation of measles even in immunocompetent individuals. We emphasise the inadequacies of vaccination programmes in India reflected not only by the existing high measles-related childhood mortalities, but also an emerging rise in deaths among adults. PMID:25139919

  10. Sexual abuse, physical abuse, chronic fatigue, and chronic fatigue syndrome: a community-based study.

    PubMed

    Taylor, R R; Jason, L A

    2001-10-01

    Using a randomly selected community-based sample, this investigation examined whether histories of childhood sexual, physical, and death threat abuse predicted adulthood outcomes of specific medical and psychiatric conditions involving chronic fatigue. This study also tested prior suggestions that most individuals with chronic fatigue syndrome report a past history of interpersonal abuse. Multinomial logistic regression was used to examine the relationship between abuse history and chronic fatigue group outcomes while controlling for the effects of sociodemographics. Compared with healthy controls, childhood sexual abuse was significantly more likely to be associated with outcomes of idiopathic chronic fatigue, chronic fatigue explained by a psychiatric condition, and chronic fatigue explained by a medical condition. None of the abuse history types were significant predictors of chronic fatigue syndrome. A closer examination of individuals in the chronic fatigue syndrome group revealed that significantly fewer individuals with CFS reported abuse as compared with those who did not. The implications of these findings are discussed. PMID:11708672

  11. Child Abuse and Cot Deaths.

    ERIC Educational Resources Information Center

    Newlands, Mary; Emery, John S.

    1991-01-01

    A search was made of confidential health department records in Great Britain for abused children, or children at risk for abuse, with siblings who had died of Sudden Infant Death Syndrome (SIDS). An association was found between child abuse and about 10 percent of deaths of children diagnosed as SIDS. (BRM)

  12. Immunological profiling of tuberculosis-associated immune reconstitution inflammatory syndrome and non-immune reconstitution inflammatory syndrome death in HIV-infected adults with pulmonary tuberculosis starting antiretroviral therapy: a prospective observational cohort study

    PubMed Central

    Ravimohan, Shruthi; Tamuhla, Neo; Steenhoff, Andrew P.; Letlhogile, Rona; Nfanyana, Kebatshabile; Bellamy, Scarlett L.; MacGregor, Rob Roy; Gross, Robert; Weissman, Drew; Bisson, Gregory P.

    2015-01-01

    Summary Background Patients co-infected with advanced HIV and tuberculosis are at risk of tuberculosis-associated immune reconstitution inflammatory syndrome (IRIS) and death soon after initiation of antiretroviral therapy (ART). Tuberculosis-associated IRIS has been associated with quicker recovery of cellular immune responses after ART initiation and early mortality with slower recovery of these responses. We aimed to assess whether patients who have these outcomes have distinct immunological profiles before and after ART initiation. Methods We undertook this prospective cohort study at 22 public clinics and the main public hospital in Gaborone, Botswana, in ART-naive adults (aged ≥21 years) with advanced HIV (CD4 cell counts ≤125 cells per μL) and pulmonary tuberculosis. We obtained data for clinical variables and for levels of 29 plasma biomarkers, quantified by Luminex assay. We classified patients as having tuberculosis-associated IRIS, early mortality, or survival without a diagnosis of tuberculosis-associated IRIS (controls), on the basis of outcomes recorded in the 6 months after ART initiation. We used rank-sum or χ² tests, and logistic regression with odds ratios (OR) and 95% CIs, to assess the association between variables measured before and 4 weeks after ART initiation with death and tuberculosis-associated IRIS, compared with controls. Findings Between Nov 12, 2009, and July 3, 2013, we enrolled 201 participants. 31 (15%) patients left the study before ART initiation, leaving 170 (85%) patients for analysis. Patients with tuberculosis-associated IRIS had reduced pre-ART concentrations of several pro-inflammatory biomarkers, including interleukin (IL)-6 (adjusted OR per 1 log10 increase 0·40 [95% CI 0·18–0·89]). However, patients with early death had increased pre-ART concentrations of inflammatory biomarkers, including monocyte chemoattractant protein-1 (adjusted OR 9·0 [95% CI 1·0–80·0]) and tumour necrosis factor (TNF)-α (7·8 [1

  13. 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 ...

  14. 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

  15. Electrocardiographic screening for hypertrophic cardiomyopathy and long QT syndrome: the drivers of cost-effectiveness for the prevention of sudden cardiac death.

    PubMed

    Anderson, Brett R; McElligott, Sean; Polsky, Daniel; Vetter, Victoria L

    2014-02-01

    It is universally recognized that the prevention of sudden cardiac death (SCD) in youth is an important public health initiative. The best approach remains uncertain. Many European and Asian countries support the use of electrocardiograms (ECGs). In the United States, this is highly controversial. Many debate its cost-effectiveness. We designed a comprehensive economic model of two of the most prevalent causes of SCD identifiable by ECG, hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS), to determine the drivers of uncertainty in the estimate of cost-effectiveness. We compared the cost-effectiveness of screening with history and physical examination (H&P) plus ECG to the current United States standard, H&P alone, for the detection and treatment of HCM and LQTS. We used a Markov model on a theoretical cohort of healthy 12-year-olds over a 70-year time horizon from a societal perspective, employing extensive univariable and probabilistic sensitivity analyses, to determine drivers of costs and effectiveness. The incremental cost-effectiveness of adding ECGs to H&Ps was $41,400/life-year saved. The model was highly sensitive to the effect of identification and treatment of previously undiagnosed individuals with HCM; however, it was insensitive to many variables commonly assumed to be significant, including the costs of ECGs, echocardiograms, and genetic testing, as well as the sensitivity and specificity of ECGs. No LQTS-related parameters were significant. This study suggests that the key to determining the cost-effectiveness of ECG screening in the United States lies in developing a better understanding of disease progression in the previously undiagnosed HCM population. PMID:24005901

  16. 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. PMID:22397408

  17. 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

  18. 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…

  19. Early childhood survivorship in Vietnam.

    PubMed

    Swenson, I E; Thang, N M; San, P B; Nhan, V Q; Man, V D

    1995-06-01

    The effects on early childhood mortality of birth order, age of the mother at the time of the child's birth, mother's education, as well as infant mortality risk in the province, urban/rural residence, the presence of schools and other facilities and health care services, were examined using data from the 1988 Vietnam Demographic and Health Survey and the 1990 Study of Accessibility of Contraceptives in Vietnam. A total of 4137 urban and rural children born between 1983 and 1988 to the 4172 women interviewed in the Demographic and Health Survey were included in the hazard model analysis of maternal and child characteristics. However, since the Accessibility of Contraceptives Study included only rural respondents, the hazard model analysis of community development characteristics and health services effects on early childhood mortality was based on a subsample of 3314 rural children. Rural children in birth orders five and higher had the greatest risk of early childhood death, birth order one an intermediate risk and orders 2-4 the lowest risk of early childhood death. Rural children residing in communes with fewer than 10,000 inhabitants were at significantly greater risk of early childhood death than children from larger communes. Neither age nor education of the mother nor gender of the child, had a significant impact on early childhood survivorship independent of other variables. Risk of infant mortality in the child's province was of borderline significance. PMID:7783281

  20. Sudden Infant Death Syndrome. Joint Hearing before Certain Subcommittees of the Committee on Post Office and Civil Service and the Committee on Energy and Commerce and the Select Committee on Children, Youth, and Families. House of Representatives, Ninety-Ninth Congress, First Session, November 14, 1985.

    ERIC Educational Resources Information Center

    Congress of the U. S., Washington, DC. House Committee on Post Office and Civil Service.

    Testimony in this congressional hearing focused on the sudden infant death syndrome (SIDS), the major cause of death in infants over 1 month of age in the United States. Three panels of witnesses, comprised of concerned parents, academicians, and national and regional officers of service organizations, (1) provide an overview of the research and…

  1. 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

  2. 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…

  3. Sudden Infant Death Syndrome (SIDS)

    MedlinePlus

    ... Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & Hospitals Q& ... What to Say Vaccines: Which Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" ...

  4. Coincidence of different structures of mucosa-associated lymphoid tissue (MALT) in the respiratory tract of children: no indications for enhanced mucosal immunostimulation in sudden infant death syndrome (SIDS)

    PubMed Central

    Debertin, A S; Tschernig, T; Schürmann, A; Bajanowski, T; Brinkmann, B; Pabst, R

    2006-01-01

    Mucosa-associated lymphoid tissue (MALT) is the principal inductive site for mucosal immune responses that are capable of T and B cell responses and antigen-specific responses. In previous independent studies different structures of MALT, e.g. bronchus-, larynx- and nose-associated lymphoid tissue (BALT, LALT, NALT) have been described separately in various frequencies in the human respiratory tract over life spans. Because upper respiratory tract infections are common in infants, dysregulations of mucosal immune responses might be seriously involved in the aetiology of sudden infant death syndrome (SIDS). In the present study the coincidental occurrence of the three different MALT structures in the respiratory tract within the same patients were studied, and cases of SIDS and children who had died from different traumatic and natural causes of death (non-SIDS) were compared. First, the frequency of BALT and LALT in 46 children (35 SIDS, 11 non-SIDS) with or without NALT were examined. A tendency was found of a coincidence of respiratory MALT structures. In 50 additional cases of infant death (30 SIDS, 20 non-SIDS) from the multi-centric German Study on Sudden Infant Death Syndrome (GeSID) where death had occurred in the first year of life, the coincidence was evaluated. A coincidental occurrence of BALT, LALT and NALT or BALT and LALT (each about 30%) was found in both groups, whereby the coincidence in SIDS and the control patients did not differ. Interestingly, the children with coincidental MALT were strikingly older, supporting the hypothesis of respiratory MALT formation via environmental stimulation over time. PMID:16968398

  5. 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…

  6. 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

  7. Investigation of the Fusarium virguliforme fvtox1 mutants revealed that the FvTox1 toxin is involved in foliar sudden death syndrome development in soybean.

    PubMed

    Pudake, Ramesh N; Swaminathan, Sivakumar; Sahu, Binod B; Leandro, Leonor F; Bhattacharyya, Madan K

    2013-08-01

    The soil borne fungus, Fusarium virguliforme, causes sudden death syndrome (SDS) in soybean, which is a serious foliar and root rot disease. The pathogen has never been isolated from the diseased foliar tissues; phytotoxins produced by the pathogen are believed to cause foliar SDS symptoms. One of these toxins, a 13.5-kDa acidic protein named FvTox1, has been hypothesized to interfere with photosynthesis in infected soybean plants and cause foliar SDS. The objective of this study is to determine if FvTox1 is involved in foliar SDS development. We created and studied five independent knockout fvtox1 mutants to study the function of FvTox1. We conducted Agrobacterium tumefaciens-mediated transformation to accomplish homologous recombination of FvTox1 with a hygromycin B resistance gene, hph, to generate the fvtox1 mutants. Approximately 40 hygromycin-resistant transformants were obtained from 10(6) conidial spores of the F. virguliforme Mont-1 isolate when the spores were co-cultivated with the A. tumefaciens EHA105 but not with LBA4044 strain carrying a recombinant binary plasmid, in which the hph gene encoding hygromycin resistance was flanked by 5'- and 3'-end FvTox1 sequences. We observed homologous recombination-mediated integration of hph into the FvTox1 locus among five independent fvtox1 mutants. In stem-cutting assays using cut soybean seedlings fed with cell-free F. virguliforme culture filtrates, the knockout fvtox1 mutants caused chlorophyll losses and foliar SDS symptoms, which were over twofold less than those caused by the virulent F. virguliforme Mont-1 isolate. Similarly, in root inoculation assays, more than a twofold reduction in foliar SDS development and chlorophyll losses was observed among the seedlings infected with the fvtox1 mutants as compared to the seedlings infected with the wild-type Mont-1 isolate. These results suggest that FvTox1 is a major virulence factor involved in foliar SDS development in soybean. It is expected that

  8. Genetic architecture and evolution of the mating type locus in fusaria that cause soybean sudden death syndrome and bean root rot.

    PubMed

    Hughes, Teresa J; O'Donnell, Kerry; Sink, Stacy; Rooney, Alejandro P; Scandiani, María Mercedes; Luque, Alicia; Bhattacharyya, Madan K; Huang, Xiaoqiu

    2014-01-01

    Fusarium tucumaniae is the only known sexually reproducing species among the seven closely related fusaria that cause soybean sudden death syndrome (SDS) or bean root rot (BRR). In a previous study, laboratory mating of F. tucumaniae yielded recombinant ascospore progeny but required two mating-compatible strains, indicating that it is heterothallic. To assess the reproductive mode of the other SDS and BRR fusaria, and their potential for mating, whole-genome sequences of two SDS and one BRR pathogen were analyzed to characterize their mating type (MAT) loci. This bioinformatic approach identified a MAT1-1 idiomorph in F. virguliforme NRRL 22292 and MAT1-2 idiomorphs in F. tucumaniae NRRL 34546 and F. azukicola NRRL 54364. Alignments of the MAT loci were used to design PCR primers within the conserved regions of the flanking genes APN1 and SLA2, which enabled primer walking to obtain nearly complete sequences of the MAT region for six MAT1-1 and five MAT1-2 SDS/BRR fusaria. As expected, sequences of the highly divergent 4.7 kb MAT1-1 and 3.7 kb MAT1-2 idiomorphs were unalignable. However, sequences of the respective idiomorphs and those that flank MAT1-1 and MAT1-2 were highly conserved. In addition to three genes at MAT1-1 (MAT1-1-1, MAT1-1-2, MAT1-1-3) and two at MAT1-2 (MAT1-2-1, MAT1-2-3), the MAT loci of the SDS/BRR fusaria also include a putative gene predicted to encode for a 252 amino acid protein of unknown function. Alignments of the MAT1-1-3 and MAT1-2-1 sequences were used to design a multiplex PCR assay for the MAT loci. This assay was used to screen DNA from 439 SDS/BRR isolates, which revealed that each isolate possessed MAT1-1 or MAT1-2, consistent with heterothallism. Both idiomorphs were represented among isolates of F. azukicola, F. brasiliense, F. phaseoli and F. tucumaniae, whereas isolates of F. virguliforme and F. cuneirostrum were only MAT1-1 and F. crassistipitatum were only MAT1-2. Finally, nucleotide sequence data from the RPB1 and RPB2

  9. Understanding Death.

    ERIC Educational Resources Information Center

    Heath, Charles P.

    1986-01-01

    Bibliotherapy can help children prepare for and understand the death of a loved one. An annotated bibliography lists references with age level information on attitudes toward death and deaths of a father, friend, grandparent, mother, pet, and sibling. (Author/CL)

  10. Genetics Home Reference: Romano-Ward syndrome

    MedlinePlus

    ... lead to fainting (syncope) or cardiac arrest and sudden death. Related Information What does it mean if a ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome GeneReviews (1 ...

  11. 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. PMID:11898482

  12. What is the risk of death or severe harm due to bone cement implantation syndrome among patients undergoing hip hemiarthroplasty for fractured neck of femur? A patient safety surveillance study

    PubMed Central

    Rutter, Paul D; Panesar, Sukhmeet S; Darzi, Ara; Donaldson, Liam J

    2014-01-01

    Objective To estimate the risk of death or severe harm due to bone cement implantation syndrome (BCIS) among patients undergoing hip hemiarthroplasty for fractured neck of femur. Setting Hospitals providing secondary and tertiary care throughout the National Health Service (NHS) in England and Wales. Participants Cases reported to the National Reporting and Learning System (NRLS) in which the reporter clearly describes severe acute patient deterioration associated with cement use in hip hemiarthroplasty for fractured neck of femur (assessed independently by two reviewers). Outcome measures Primary—number of reported deaths, cardiac arrests and periarrests per year. Secondary—timing of deterioration and outcome in relation to cement insertion. Results Between 2005 and 2012, the NRLS received 62 reports that clearly describe death or severe harm associated with the use of cement in hip hemiarthroplasty for fractured neck of femur. There was one such incident for every 2900 hemiarthroplasties for fractured neck of femur during the period. Of the 62 reports, 41 patients died, 14 were resuscitated from cardiac arrest and 7 from periarrest. Most reports (55/62, 89%) describe acute deterioration occurring during or within a few minutes of cement insertion. The vast majority of deaths (33/41, 80%) occurred on the operating table. Conclusions These reports provide narrative evidence from England and Wales that cement use in hip hemiarthroplasty for fractured neck of femur is associated with instances of perioperative death or severe harm consistent with BCIS. In 2009, the National Patient Safety Agency publicised this issue and encouraged the use of mitigation measures. Three-quarters of the deaths in this study have occurred since that alert, suggesting incomplete implementation or effectiveness of those mitigation measures. There is a need for stronger evidence that weighs the risks and benefits of cement in hip hemiarthroplasty for fractured neck of femur. PMID

  13. Unnatural sudden infant death

    PubMed Central

    Meadow, R.

    1999-01-01

    AIM—To identify features to help paediatricians differentiate between natural and unnatural infant deaths.
METHOD—Clinical features of 81 children judged by criminal and family courts to have been killed by their parents were studied. Health and social service records, court documents, and records from meetings with parents, relatives, and social workers were studied.
RESULTS—Initially, 42 children had been certified as dying from sudden infant death syndrome (SIDS), and 29 were given another cause of natural death. In 24 families, more than one child died; 58died before the age of 6 months and most died in the afternoon or evening. Seventy per cent had experienced unexplained illnesses; over half were admitted to hospital within the previous month, and 15 had been discharged within 24 hours of death. The mother, father, or both were responsible for death in 43, five, and two families, respectively. Most homes were disadvantaged—no regular income, receiving income support—and mothers smoked. Half the perpetrators had a history of somatising or factitious disorder. Death was usually by smothering and 43% of children had bruises, petechiae, or blood on the face.
CONCLUSIONS—Although certain features are indicative of unnatural infant death, some are also associated with SIDS. Despite the recent reduction in numbers of infants dying suddenly, inadequacies in the assessment of their deaths exist. Until a thorough postmortem examination is combined with evaluation of the history and circumstances of death by an experienced paediatrician, most cases of covert fatal abuse will go undetected. The term SIDS requires revision or abandonment.

 PMID:10325752

  14. Childhood cancer: A growing problem.

    PubMed Central

    Schmidt, C W

    1998-01-01

    Childhood cancer is the leading cause of disease-related death among children in the United States,and rates are increasing by approximately 1% each year. Unfortunately,the science of epidemiology has not provided definitive answers to the question of why cancer strikes children. PMID:9422708

  15. Cystic fibrosis and beckwith-wiedemann syndrome: a case report.

    PubMed

    Aguiar, Claudia; Correia-Costa, Liane; Eden, Paulo; Guedes-Vaz, Luisa

    2015-03-01

    Cystic fibrosis (CF) is a hereditary disease of exocrine gland function that involves multiple systems but chiefly results in chronic respiratory infections, the major cause of death, pancreatic enzyme deficiency and severe malnutrition, mostly in untreated patients. The association between CF and other inherited diseases or congenital anomalies is rare. We describe for the first time the association of CF and Beckwith-Wiedemann syndrome (BWS). BWS is a genetic disorder commonly characterized by overgrowth. The most common features of BWS include macrosomia, macroglossia, abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia in the newborn period and unusual ear creases or pits. PMID:25584105

  16. Cystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report

    PubMed Central

    Aguiar, Claudia; Correia-Costa, Liane; Eden, Paulo; Guedes-Vaz, Luisa

    2015-01-01

    Cystic fibrosis (CF) is a hereditary disease of exocrine gland function that involves multiple systems but chiefly results in chronic respiratory infections, the major cause of death, pancreatic enzyme deficiency and severe malnutrition, mostly in untreated patients. The association between CF and other inherited diseases or congenital anomalies is rare. We describe for the first time the association of CF and Beckwith-Wiedemann syndrome (BWS). BWS is a genetic disorder commonly characterized by overgrowth. The most common features of BWS include macrosomia, macroglossia, abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia in the newborn period and unusual ear creases or pits. PMID:25584105

  17. Asymptomatic Wolff-Parkinson-White Syndrome Should be Ablated.

    PubMed

    Pappone, Carlo; Santinelli, Vincenzo

    2012-09-01

    Wolff-Parkinson-White syndrome (WPW) is associated with a small but lifetime risk of cardiac arrest and/or sudden cardiac death (SCD). However, the exact risk is not well defined, particularly in asymptomatic persons. Over recent years the authors have collected and reported new follow-up data among a large number of asymptomatic WPW patients, particularly children, intensively followed. These data have significantly contributed to the knowledge and definition of the natural history of WPW from childhood to adulthood. The risk of SCD is higher in asymptomatic children than in adults, and early ablation can be offered only to selected subjects after electrophysiologic testing. PMID:26939947

  18. Preventing Child Suicide: The Elementary School Death Education Puppet Show.

    ERIC Educational Resources Information Center

    Bernhardt, G. R.; Praeger, Susan G.

    1985-01-01

    Looks at a program for death education at the elementary school level in the belief that children's mistaken conceptualizations about and around death can be a contributing cause of childhood suicide. Suggests the use of puppets as a strategy for the introduction of death education. (LLL)

  19. 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

  20. Practicing death.

    PubMed

    Avny, Ohad; Alon, Aya

    2016-07-01

    This narrative describes the struggle of a primary care physician contending with the challenge of remaining committed to his patient's care despite a sense of burnout in relation to an intense period of patient deaths. The story presents two patient deaths and the physician's reflections on how he handled both cases. PMID:26899633

  1. 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

  2. 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…

  3. Neurocutaneous syndromes.

    PubMed

    Klar, Nitasha; Cohen, Bernard; Lin, Doris D M

    2016-01-01

    Neurocutaneous syndromes (or phakomatoses) are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development, hence commonly involving the skin, eye, and central nervous system. These are often inherited conditions and typically present in early childhood or adolescence. Some of the abnormalities and clinical symptoms may, however, be progressive, and there is an increased risk of neoplastic formation in many of the syndromes. As a group, neurocutaneous syndromes are characterized by distinctive cutaneous stigmata and neurologic symptomology, the latter often representing the most devastating and debilitating features of these diseases. Many of these syndromes are markedly heterogeneous in nature as they affect many organ systems. Given the incurable nature of these conditions and the broad spectrum of pathologies they comprise, treatments vary on a case-by-case basis and tend to be palliative rather than curative. With the advances in molecular genetics, however, greater understanding of biologic functions of the gene products and the correlative phenotypic expression is being attained, and this knowledge may guide future therapeutic developments. This chapter focuses on the cutaneous and neurologic pathology with emphasis on neuroimaging of selective neurocutaneous syndromes, including tuberous sclerosis, Sturge-Weber syndrome, Klippel-Trenaunay syndrome, ataxia-telangiectasia, and incontinentia pigmenti. PMID:27432683

  4. Death duties

    PubMed Central

    Myers, Kathryn A.; Eden, David

    2007-01-01

    PROBLEM BEING ADDRESSED Family physicians are often called upon to pronounce and certify the deaths of patients. Inadequate knowledge of the Coroners Act (in the province of Ontario) and of the correct process of certifying death can make physicians uncomfortable when confronted with these tasks. OBJECTIVE OF PROGRAM To educate family physicians about how to perform the administrative tasks required of them when patients die. PROGRAM DESCRIPTION The program included an educational video, a tutorial outlining the process of death certification, and discussion with a regional coroner about key features of the Coroners Act. In small groups, participants worked through cases of patient deaths in which they were asked to determine whether a coroner needed to be involved, to determine the manner of death, and to complete a mock death certificate for each case. CONCLUSION All participants reported a high level of satisfaction with the workshop and thought the main objective of the program had been achieved. Results of a test given 3 months after the workshop showed substantial improvement in participants’ knowledge of the coroner’s role and of the process of death certification. PMID:17872782

  5. Sudden and unexpected death in early life: proceedings of a symposium in honor of Dr. Henry F. Krous.

    PubMed

    Kinney, Hannah C; Rognum, Torleiv O; Nattie, Eugene E; Haddad, Gabriel G; Hyma, Bruce; McEntire, Betty; Paterson, David S; Crandall, Laura; Byard, Roger W

    2012-12-01

    Reported here are the proceedings of a symposium given in honor of Dr. Henry F. Krous upon his retirement as Clinical Professor of Pathology and Pediatrics at the University of California Schools of Medicine, and as Director of the San Diego SIDS/SUDC Research Project. Dr. Krous' distinguished 37-year-career was dedicated to research into sudden unexpected death in infancy and childhood, notably the sudden infant death syndrome (SIDS) and sudden unexplained death in childhood (SUDC). The presentations were given at the International Conference on Stillbirth, SIDS, and infant survival on October 5, 2012, in Baltimore, MD, USA. Eight colleagues of Dr. Krous whose own professional careers were touched by his efforts discussed forensic issues related to SIDS, tissue banking, animal models in SIDS, brainstem studies in SIDS, genetic studies in SIDS, establishment of a SUDC registry, neuropathologic research in SUDC, and potential shared mechanisms underlying sudden and unexpected death in early life. The wide scope of the presentations crossed the disciplines of forensic pathology, pediatric pathology, neuropathology, neuroscience, physiology, genetics, and bereavement, and attest to Dr. Krous' far-reaching influence upon SIDS and SUDC research. PMID:22941540

  6. HELLP syndrome

    MedlinePlus

    ... get worse and be harmful to both the mother and child. Your health care provider may induce labor by ... treatment, a small number of women die. The death rate among babies born to mothers with HELLP syndrome depends on birth weight and ...

  7. Pediatric sensorineural hearing loss, part 2: syndromic and acquired causes.

    PubMed

    Huang, B Y; Zdanski, C; Castillo, M

    2012-03-01

    This article is the second in a 2-part series reviewing neuroimaging in childhood SNHL. Previously, we discussed the clinical work-up of children with hearing impairment, the classification of inner ear malformations, and congenital nonsyndromic causes of hearing loss. Here, we review and illustrate the most common syndromic hereditary and acquired causes of childhood SNHL, with an emphasis on entities that demonstrate inner ear abnormalities on cross-sectional imaging. Syndromes discussed include BOR syndrome, CHARGE syndrome, Pendred syndrome, Waardenburg syndrome, and X-linked hearing loss with stapes gusher. We conclude the article with a review of acquired causes of childhood SNHL, including infections, trauma, and neoplasms. PMID:21596810

  8. 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. ...

  9. 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): ...

  10. Genetics Home Reference: RAPADILINO syndrome

    MedlinePlus

    ... slightly increased risk of developing a type of bone cancer known as osteosarcoma or a blood-related cancer called lymphoma. In individuals with RAPADILINO syndrome , osteosarcoma most often develops during childhood or adolescence, and ...

  11. Clinical Features of Turner Syndrome

    MedlinePlus

    ... growth is attenuated in utero, and statural growth lags during childhood and adolescence, resulting in adult heights ... easily treated with thyroid hormone supplements. Cognitive Function/Educational Issues In general, individuals with Turner syndrome have ...

  12. Neonatal Death

    MedlinePlus

    ... story First Candle Centering Corporation The Compassionate Friends Star Legacy Foundation Last reviewed: November, 2015 Neonatal death ... story First Candle Centering Corporation The Compassionate Friends Star Legacy Foundation Last reviewed: November, 2015 Complications & Loss ...

  13. 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…

  14. 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. ...

  15. Childhood Leukemia

    MedlinePlus

    ... acute types. Symptoms include Infections Fever Loss of appetite Tiredness Easy bruising or bleeding Swollen lymph nodes Night sweats Shortness of breath Pain in the bones or joints Risk factors for childhood leukemia include having a brother ...

  16. [Coexistence of Jarcho-Levin syndrome, syringomyelia and osteoporosis in 15 years old boy].

    PubMed

    Torbus, Onufry; Jachimowicz, Magdalena; Pieta, Marcin; Głowacki, Jan; Karczewska, Krystyna; Skrzelewski, Stanisław

    2002-01-01

    Autosomally inherited Jarcho-Levin syndrome is an illness leading to death usually in the foetal, neonatal or infantile period or in early childhood. The children rarely survive to the age of adolescence. Hardly 130 cases of the syndrome were described up to now. There are two types of the syndrome: milder spondylocostal dysplasia (SCD) and more severe spondylothoracic dysplasia (STD)--the proper Jarcho-Levin syndrome. The authors present a case of coexistence of Jarcho-Levin syndrome with syringomyelia and osteoporosis in a 15 years old boy. His disease manifested itself in developmental anomaly of structure and segmentation of vertebrae, occult cervicothoracic spina bifida and characteristic crablike deformation of thorax. These anomalies led to kyphoscoliosis and considerable shortening of trunk as well as to the growth which increased the proportions of limbs length to the trunk and body height. The syndrome was accompanied by the syringomyelia in C5-Th1 segment and osteoporotic skeleton with significantly decreased bone density (in the L2-4 segment Z = -5.17). According to the best of our knowledge the presented case is the first description of the coexistence of Jarcho-Levin syndrome, syringomyelia and osteoporosis in world literature. The anomaly diagnosed as STD has also the features of SCD. The verification of the classification principles of Jarcho-Levin syndrome may take place in future basing on bigger number of observation and on genetics development. PMID:12715362

  17. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

    PubMed Central

    Bezzina, Connie R.; Barc, Julien; Mizusawa, Yuka; Remme, Carol Ann; Gourraud, Jean-Baptiste; Simonet, Floriane; Verkerk, Arie O.; Schwartz, Peter J.; Crotti, Lia; Dagradi, Federica; Guicheney, Pascale; Fressart, Véronique; Leenhardt, Antoine; Antzelevitch, Charles; Bartkowiak, Susan; Schulze-Bahr, Eric; Zumhagen, Sven; Behr, Elijah R.; Bastiaenen, Rachel; Tfelt-Hansen, Jacob; Olesen, Morten Salling; Kääb, Stefan; Beckmann, Britt M.; Weeke, Peter; Watanabe, Hiroshi; Endo, Naoto; Minamino, Tohru; Horie, Minoru; Ohno, Seiko; Hasegawa, Kanae; Makita, Naomasa; Nogami, Akihiko; Shimizu, Wataru; Aiba, Takeshi; Froguel, Philippe; Balkau, Beverley; Lantieri, Olivier; Torchio, Margherita; Wiese, Cornelia; Weber, David; Wolswinkel, Rianne; Coronel, Ruben; Boukens, Bas J.; Bézieau, Stéphane; Charpentier, Eric; Chatel, Stéphanie; Despres, Aurore; Gros, Françoise; Kyndt, Florence; Lecointe, Simon; Lindenbaum, Pierre; Portero, Vincent; Violleau, Jade; Gessler, Manfred; Tan, Hanno L.; Roden, Dan M.; Christoffels, Vincent M.; Le Marec, Hervé; Wilde, Arthur A; Probst, Vincent; Schott, Jean-Jacques; Dina, Christian; Redon, Richard

    2013-01-01

    Brugada syndrome is a rare cardiac arrhythmia disorder, causally related to SCN5A mutations in around 20% of cases1–3. Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451). Independent replication confirmed both signals (meta-analyses: rs10428132, P = 1.0 × 10−68; rs9388451, P = 5.1 × 10−17) and identified one additional signal in SCN5A (at 3p21; rs11708996, P = 1.0 × 10−14). The cumulative effect of the three loci on disease susceptibility was unexpectedly large (Ptrend = 6.1 × 10−81). The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction4–7 can also influence susceptibility to cardiac arrhythmia. The implication of association with HEY2, supported by new evidence that Hey2 regulates cardiac electrical activity, shows that Brugada syndrome may originate from altered transcriptional programming during cardiac development8. Altogether, our findings indicate that common genetic variation can have a strong impact on the predisposition to rare diseases. PMID:23872634

  18. Genetics Home Reference: Jervell and Lange-Nielsen syndrome

    MedlinePlus

    ... heartbeats increase the risk of fainting (syncope) and sudden death. Related Information What does it mean if a ... list from the University of Kansas Medical Center Sudden Arrhythmia Death Syndromes (SADS) Foundation: Long QT Syndrome GeneReviews (1 ...

  19. Recent developments in the management of common childhood skin infections.

    PubMed

    Oranje, Arnold P; de Waard-van der Spek, Flora B

    2015-06-01

    A literature review and clinical commentary on diagnosis and treatment of common childhood bacterial, fungal and viral skin infections is presented including impetigo, folliculitis, staphylococcal scalded skin syndrome, tinea capitis, warts and molluscum contagiosum. PMID:25936745

  20. Childhood infections in Nigeria: an autopsy study.

    PubMed

    Akang, E E; Ekweozor, C; Pindiga, H U; Onyemenem, T N

    1993-08-01

    Infections are the leading cause of childhood morbidity and mortality in developing countries. Bronchopneumonia, meningitis and gastroenteritis are the commonest fatal infections encountered in Ibadan. Tuberculous lymphadenitis, bronchopneumonia and meningitis are other frequent causes of death. The predominant sequela of measles is respiratory tract infection. Another important cause of childhood mortality is cerebral malaria. In half of the cases of tetanus no obvious portal of entry can be found. It is advocated that the implementation of immunization schedules should be vigorously pursued to curtail childhood mortality resulting from infection. PMID:8345543

  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. PMID:27161368

  2. 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…

  3. Sudden deaths in yearling feedlot cattle.

    PubMed

    Pierson, R E; Jensen, R; Lauerman, L H; Saari, D A; Braddy, P M; McChesney, A E; Horton, D P

    1976-09-01

    A survey of the causes for fatal diseases of yearling feedlot cattle was conducted on more than 407,000 cattle during a 14-month period. Of the 4,260 (1%) cattle that died during this period, 1,358 (32%) were categorized as cases of "sudden death syndrome." Of the 11 most frequent causes of the syndrome, as determined at necropsy, only 4--bloat, pulmonary aneurysms, riding injury, and hemopericardium--were considered as short-course problems and true causes of sudden death. The largest number of cases of sudden death were attributed to pneumonia (113 animals). Consequently, the sudden death syndrome is a misnomer for many long-course diseases and, in some instances, a mask for neglect because, as clinically used, the name frequently includes cattle that have been sick, often with pneumonia, for several days. PMID:956032

  4. A multicenter randomized trial indicates initial prednisolone treatment for childhood nephrotic syndrome for two months is not inferior to six-month treatment

    PubMed Central

    Yoshikawa, Norishige; Nakanishi, Koichi; Sako, Mayumi; Oba, Mari S; Mori, Rintaro; Ota, Erika; Ishikura, Kenji; Hataya, Hiroshi; Honda, Masataka; Ito, Shuichi; Shima, Yuko; Kaito, Hiroshi; Nozu, Kandai; Nakamura, Hidefumi; Igarashi, Takashi; Ohashi, Yasuo; Iijima, Kazumoto

    2015-01-01

    In this multicenter, open-label, randomized controlled trial, we determined whether 2-month prednisolone therapy for steroid-sensitive nephrotic syndrome was inferior or not to 6-month therapy despite significantly less steroid exposure. The primary end point was time from start of initial treatment to start of frequently relapsing nephrotic syndrome. The pre-specified non-inferiority margin was a hazard ratio of 1.3 with one-sided significance of 5%. We randomly assigned 255 children with an initial episode of steroid-sensitive nephrotic syndrome to either 2 - or 6-month treatment of which 246 were eligible for final analysis. The total prednisolone exposure counted both initial and relapse prednisolone treatment administered over 24 months. Median follow-up in months was 36.7 in the 2-month and 38.2 in the 6-month treatment group. Time to frequent relaps was similar in both groups; however, the median was reached only in the 6-month group (799 days). The hazard ratio was 0.86 (90% confidence interval, 0.64–1.16) and met the non-inferior margin. Time to first relapse was also similar in both groups: median day 242 (2-month) and 243 (6-month). Frequency and severity of adverse events were similar in both groups. Most adverse events were transient and occurred during initial or relapse therapy. Thus, 2 months of initial prednisolone therapy for steroid-sensitive nephrotic syndrome, despite less prednisolone exposure, is not inferior to 6 months of initial therapy in terms of time to onset of frequently relapsing nephrotic syndrome. PMID:25054775

  5. Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management.

    PubMed

    Gonzalez Corcia, M Cecilia; de Asmundis, Carlo; Chierchia, Gian-Battista; Brugada, Pedro

    2016-08-01

    Brugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family's specific preferences. PMID:27151277

  6. 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

  7. 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.

  8. 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.…

  9. 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…

  10. Genetics of sudden cardiac death.

    PubMed

    Refaat, Marwan M; Hotait, Mostafa; London, Barry

    2015-07-01

    Sudden cardiac death (SCD) is defined by the World Health Organization (WHO) as death within 1 h of symptom onset (witnessed) or within 24 h of being observed alive and symptom free (unwitnessed). It affects more than 3 million people annually worldwide and affects approximately 1/1000 people each year in the USA. Familial studies of syndromes with Mendelian inheritance, candidate genes analyses, and genome-wide association studies (GWAS) have helped our understanding of the genetics of SCD. We will review the genetics of arrhythmogenic hereditary syndromes with Mendelian inheritance from familial studies with structural heart disease (hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) as well as primary electrical causes (long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome). In addition, we will review the genetics of intermediate phenotypes for SCD such as coronary artery disease and electrocardiographic variables (QT interval, QRS duration, and RR interval). Finally, we will review rare and common variants that are associated with SCD in the general population and were identified from candidate gene analyses and GWAS. Our understanding of the genetics of SCD will improve by the use of next-generation sequencing/whole-exome sequencing as well as whole-genome sequencing which have the potential to discover unsuspected common and rare genetic variants that might be associated with SCD. PMID:26026997

  11. 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. PMID:24182378

  12. Congenital Seminal Vesicle Cyst and Ipsilateral Renal Agenesis (Zinner Syndrome): A Rare Association and Its Evolution from Early Childhood to Adolescence

    PubMed Central

    Kanavaki, Aikaterini; Vidal, Isabelle; Merlini, Laura; Hanquinet, Sylviane

    2015-01-01

    Zinner syndrome, the association of congenital seminal vesicle cyst and ipsilateral renal agenesis, is more often reported in adults or older adolescents. We present a case of a boy, followed up in our hospital since birth for right renal agenesis who at the age of 4 years presented a right paravesical cyst on ultrasound. The cyst was initially considered as an ureterocele. The diagnosis of Zinner syndrome was made later, at the age of 15 years by ultrasound and magnetic resonance imaging; at that moment the cyst had increased in size and had changed in aspect. This malformation should be considered in the differential diagnosis of a pelvic cyst in male patients with renal agenesis. PMID:26788458

  13. Childhood drowning in Malaysia.

    PubMed

    Hss, Amar-Singh; Tan, Pui San; Hashim, Lina

    2014-01-01

    This study aimed to collate data on childhood drowning in Malaysia and review existing drowning prevention measures. This study used secondary data from governmental and non-governmental agencies. All reported fatal drownings from 2000 to 2007 and all reported non-fatal drownings from 2000 to 2008 were included. Data were analysed to provide understanding of the epidemiology of drowning incidents, risk factors and available preventive efforts. On average 286 (range 248-344) children died yearly due to drowning with a death rate of 3.05 per 100,000 annually. An additional average of 207 children drowned but survived annually (1.99 per 100,000). The estimated burden of drowning in children (death and non-death) is 5 per 100,000. There was no reduction in annual drowning fatalities over time. Most drowning took place in east coast regions during the annual monsoon season. It was 3.52 (2.80-4.41) times more common in boys and most prevalent among 10-14 years. Most prevalent sites of all-age drowning were seas and rivers. Limited water safety regulations are currently available in the country. This is the first comprehensive national study in Malaysia on paediatric drowning and highlights the magnitude of the problem. It calls for concerted effort to devise effective national drowning prevention measures. PMID:23651461

  14. 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. PMID:24434909

  15. CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) express early apoptotic markers but avoid programmed cell death by up-regulation of antiapoptotic proteins

    PubMed Central

    Pfannes, Loretta; Chen, Gubin; Shah, Simant; Solomou, Elena E.; Barrett, John; Young, Neal S.

    2007-01-01

    CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) are distinguished from other MDS cells and from normal hematopoietic cells by their pronounced expression of apoptotic markers. Paradoxically, trisomy 8 clones can persist in patients with bone marrow failure and expand following immunosuppression. We previously demonstrated up-regulation of c-myc and CD1 by microarray analysis. Here, we confirmed these findings by real-time polymerase chain reaction (PCR), demonstrated up-regulation of survivin, c-myc, and CD1 protein expression, and documented comparable colony formation by annexin+ trisomy 8− CD34+ and annexin− CD34 cells. There were low levels of DNA degradation in annexin+ trisomy 8 CD34 cells, which were comparable with annexin− CD34 cells. Trisomy 8 cells were resistant to apoptosis induced by gamma irradiation. Knock-down of survivin by siRNA resulted in preferential loss of trisomy 8 cells. These results suggest that trisomy 8 cells undergo incomplete apoptosis and are nonetheless capable of colony formation and growth. PMID:17090657

  16. 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

  17. 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...

  18. Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.

    PubMed

    Protonotarios, Nikos; Tsatsopoulou, Adalena

    2006-01-01

    Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel and Saudi Arabia. A syndrome with the same cutaneous phenotype and predominantly left ventricular involvement has been described in families from India and Ecuador (Carvajal syndrome). Woolly hair appears from birth, palmoplantar keratoderma develop during the first year of life and cardiomyopathy is clinically manifested by adolescence with 100% penetrance. Patients present with syncope, sustained ventricular tachycardia or sudden death. Symptoms of right heart failure appear during the end stages of the disease. In the Carvajal variant the cardiomyopathy is clinically manifested during childhood leading more frequently to heart failure. Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease. Defects in the linking sites of these proteins can interrupt the contiguous chain of cell adhesion, particularly under conditions of increased mechanical stress or stretch, leading to cell death, progressive loss of myocardium and fibro-fatty replacement. Implantation of an automatic cardioverter defibrillator is indicated for prevention of sudden cardiac death. Antiarrhythmic drugs are used for preventing recurrences of episodes of sustained ventricular tachycardia and classical pharmacological treatment for congestive heart failure, while heart transplantation is considered at the end stages. PMID:16722579

  19. Adiponectin in childhood.

    PubMed

    Jeffery, Alison N; Murphy, Michael J; Metcalf, Brad S; Hosking, Joanne; Voss, Linda D; English, Patrick; Sattar, Naveed; Wilkin, Terence J

    2008-01-01

    Adiponectin, a hormone produced and secreted by adipocytes, is present in circulation in high circulating concentrations, suggesting an important physiological role. An indirect regulator of glucose metabolism, adiponectin increases insulin sensitivity, improves glucose tolerance and inhibits inflammation. Plasma adiponectin relates inversely to adiposity and, importantly, reflects the sequelae of accumulation of excess adiposity. The role of adiponectin in adults has been explored in detail. Studies in children are now available and, given the increasing rates of childhood obesity, it is important to establish the role of adiponectin in mediating insulin resistance and cardiovascular disease in this age group. This paper reviews the regulation of adiponectin, its effect on body mass, glucose metabolism and cardiovascular risk in infants, children and adolescents. It demonstrates clear links between adiponectin and features of the metabolic syndrome in obese children and adolescents. However, adiponectin's role as a predictor of metabolic dysfunction in healthy, normal-weight youngsters is less clear. PMID:19086185

  20. 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

  1. Childhood obesity.

    PubMed

    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

  2. [Childhood hypertension].

    PubMed

    Takemura, Tsukasa

    2015-11-01

    For accurate diagnosis of childhood hypertension, selection of appropriate manchette size according to the child age and the circumstantial size of upper limb is essentially important. In addition, except for the emergency case of hypertension, repeated measurement of blood pressure would be desirable in several weeks interval. Recently, childhood hypertension might be closely related to the abnormality of maternal gestational period caused by the strict diet and the maternal smoking. Developmental Origins of Health and Disease(DOHaD) theory is now highlighted in the pathogenesis of adulthood hypertension. To prevent hypertension of small-for-date baby in later phase of life, maternal education for child nursing should be conducted. In children, secondary hypertension caused by renal, endocrinologic, or malignant disease is predominant rather than idiopathic hypertension. PMID:26619664

  3. Combined dyslipidemia in childhood.

    PubMed

    Kavey, Rae-Ellen W

    2015-01-01

    Combined dyslipidemia (CD) is now the predominant dyslipidemic pattern in childhood, characterized by moderate-to-severe elevation in triglycerides and non-high-density lipoprotein cholesterol (non-HDL-C), minimal elevation in low-density lipoprotein cholesterol (LDL-C), and reduced HDL-C. Nuclear magnetic resonance spectroscopy shows that the CD pattern is represented at the lipid subpopulation level as an increase in small, dense LDL and in overall LDL particle number plus a reduction in total HDL-C and large HDL particles, a highly atherogenic pattern. In youth, CD occurs almost exclusively with obesity and is highly prevalent, seen in more than 40% of obese adolescents. CD in childhood predicts pathologic evidence of atherosclerosis and vascular dysfunction in adolescence and young adulthood, and early clinical cardiovascular events in adult life. There is a tight connection between CD, visceral adiposity, insulin resistance, nonalcoholic fatty liver disease, and the metabolic syndrome, suggesting an integrated pathophysiological response to excessive weight gain. Weight loss, changes in dietary composition, and increases in physical activity have all been shown to improve CD significantly in children and adolescents in short-term studies. Most importantly, even small amounts of weight loss are associated with significant decreases in triglyceride levels and increases in HDL-C levels with improvement in lipid subpopulations. Diet change focused on limitation of simple carbohydrate intake with specific elimination of all sugar-sweetened beverages is very effective. Evidence-based recommendations for initiating diet and activity change are provided. Rarely, drug therapy is needed, and the evidence for drug treatment of CD in childhood is reviewed. PMID:26343211

  4. The child and the fear of death.

    PubMed

    Mitchell, N L; Schulman, K R

    1981-10-01

    The central hypothesis of this paper is that the innate fear of death in the human being is universal and that the child, least of all, is immune to death fear and its symbolic representation. This cuts across all ages and developmental levels. This paper is not concerned with the empirical knowledge of death, an area that has been extensively explored by others such as Nagy (1948), Piaget (1929), and Anthony (1940).Examination of the child and his relationship to death is important in order to reach the truth and understand the human meaning of the fear of death.The child's conception of himself and his relationship to the world is an ironic paradox. On one hand, he feels endowed with magical feelings of omnipotence. This feeling is the main defense against the fear of death. On the other hand, his wishes, both benevolent and malevolent, have power independent of him to influence events. The concept of chance is alien, and the differentiation between objective and wishful causation is obscured. Thus, the way in which the child perceives his world makes the terror of death more formidable.SEVERAL CONCLUSIONS ARE REACHED IN THIS PAPER: (1) that even in childhood, loss, endings, separations, and death are core concerns of the individual; (2) that fear of death in children is intensified by the absence of the intellectual equipment and the absence of the necessary defense mechanisms essential for comprehending the experience of loss; and (3) that repression of the fear of death is an evolutionary process which has its origin in childhood. PMID:7310912

  5. Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth

    PubMed Central

    Koch, Sylvia; Garcia Gonzalez, Omar; Assfalg, Robin; Schelling, Adrian; Schäfer, Patrick; Scharffetter-Kochanek, Karin; Iben, Sebastian

    2014-01-01

    Mutations in the Cockayne syndrome A (CSA) protein account for 20% of Cockayne syndrome (CS) cases, a childhood disorder of premature aging and early death. Hitherto, CSA has exclusively been described as DNA repair factor of the transcription-coupled branch of nucleotide excision repair. Here we show a novel function of CSA as transcription factor of RNA polymerase I in the nucleolus. Knockdown of CSA reduces pre-rRNA synthesis by RNA polymerase I. CSA associates with RNA polymerase I and the active fraction of the rDNA and stimulates re-initiation of rDNA transcription by recruiting the Cockayne syndrome proteins TFIIH and CSB. Moreover, compared with CSA deficient parental CS cells, CSA transfected CS cells reveal significantly more rRNA with induced growth and enhanced global translation. A previously unknown global dysregulation of ribosomal biogenesis most likely contributes to the reduced growth and premature aging of CS patients. PMID:24781187

  6. 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

  7. [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. PMID:27349085

  8. 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. PMID:24904116

  9. Mother-infant cosleeping, breastfeeding and sudden infant death syndrome: what biological anthropology has discovered about normal infant sleep and pediatric sleep medicine.

    PubMed

    McKenna, James J; Ball, Helen L; Gettler, Lee T

    2007-01-01

    Twenty years ago a new area of inquiry was launched when anthropologists proposed that an evolutionary perspective on infancy could contribute to our understanding of unexplained infant deaths. Here we review two decades of research examining parent-infant sleep practices and the variability of maternal and infant sleep physiology and behavior in social and solitary sleeping environments. The results challenge clinical wisdom regarding "normal" infant sleep, and over the past two decades the perspective of evolutionary pediatrics has challenged the supremacy of pediatric sleep medicine in defining what are appropriate sleep environments and behaviors for healthy human infants. In this review, we employ a biocultural approach that integrates diverse lines of evidence in order to illustrate the limitations of pediatric sleep medicine in adopting a view of infants that prioritizes recent western social values over the human infant's biological heritage. We review what is known regarding infant sleeping arrangements among nonhuman primates and briefly explore the possible paleoecological context within which early human sleep patterns and parent-infant sleeping arrangements might have evolved. The first challenges made by anthropologists to the pediatric and SIDS research communities are traced, and two decades of studies into the behavior and physiology of mothers and infants sleeping together are presented up to the present. Laboratory, hospital and home studies are used to assess the biological functions of shared mother-infant sleep, especially with regard to breastfeeding promotion and SIDS reduction. Finally, we encourage other anthropologists to participate in pediatric sleep research using the unique skills and insights anthropological data provide. By employing comparative, evolutionary and cross-cultural perspectives an anthropological approach stimulates new research insights that influence the traditional medical paradigm and help to make it more inclusive

  10. Genetics Home Reference: ring chromosome 14 syndrome

    MedlinePlus

    ... characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many ... to the signs and symptoms of this disorder. Epilepsy is a common feature of ring chromosome syndromes, ...

  11. Genetics Home Reference: Peutz-Jeghers syndrome

    MedlinePlus

    ... multiple polyps in the stomach and intestines during childhood or adolescence. Polyps can cause health problems such as recurrent bowel obstructions, chronic bleeding, and abdominal pain. People with Peutz-Jeghers syndrome have a high ...

  12. Childhood traumas: an outline and overview.

    PubMed

    Terr, L C

    1991-01-01

    Childhood psychic trauma appears to be a crucial etiological factor in the development of a number of serious disorders both in childhood and in adulthood. Like childhood rheumatic fever, psychic trauma sets a number of different problems into motion, any of which may lead to a definable mental condition. The author suggests four characteristics related to childhood trauma that appear to last for long periods of life, no matter what diagnosis the patient eventually receives. These are visualized or otherwise repeatedly perceived memories of the traumatic event, repetitive behaviors, trauma-specific fears, and changed attitudes about people, life, and the future. She divides childhood trauma into two basic types and defines the findings that can be used to characterize each of these types. Type I trauma includes full, detailed memories, "omens," and misperceptions. Type II trauma includes denial and numbing, self-hypnosis and dissociation, and rage. Crossover conditions often occur after sudden, shocking deaths or accidents that leave children handicapped. In these instances, characteristics of both type I and type II childhood traumas exist side by side. There may be considerable sadness. Each finding of childhood trauma discussed by the author is illustrated with one or two case examples. PMID:1824611

  13. 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…

  14. 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

  15. 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.…

  16. 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…

  17. 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

  18. Brugada Syndrome

    PubMed Central

    ANTZELEVITCH, CHARLES

    2007-01-01

    First introduced as a new clinical entity in 1992, the Brugada syndrome is associated with a relatively high risk of sudden death in young adults, and occasionally in children and infants. Recent years have witnessed a striking proliferation of papers dealing with the clinical and basic aspects of the disease. Characterized by a coved-type ST-segment elevation in the right precordial leads of the electrocardiogram (ECG), the Brugada syndrome has a genetic basis that thus far has been linked only to mutations in SCN5A, the gene that encodes the α-subunit of the sodium channel. The Brugada ECG is often concealed, but can be unmasked or modulated by a number of drugs and pathophysiological states including sodium channel blockers, a febrile state, vagotonic agents, tricyclic antidepressants, as well as cocaine and propranolol intoxication. Average age at the time of initial diagnosis or sudden death is 40 ± 22, with the youngest patient diagnosed at 2 days of age and the oldest at 84 years. This review provides an overview of the clinical, genetic, molecular, and cellular aspects of the Brugada syndrome, incorporating the results of two recent consensus conferences. Controversies with regard to risk stratification and newly proposed pharmacologic strategies are discussed. PMID:17038146

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

    PubMed

    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

  20. 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

  1. 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. PMID:27182706

  2. 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

  3. Genetics of Bladder Malignant Tumors in Childhood.

    PubMed

    Zangari, Andrea; Zaini, Johan; Gulìa, Caterina

    2016-02-01

    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

  4. 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

  5. An Evaluation of Acylated Ghrelin and Obestatin Levels in Childhood Obesity and Their Association with Insulin Resistance, Metabolic Syndrome, and Oxidative Stress

    PubMed Central

    Razzaghy-Azar, Maryam; Nourbakhsh, Mitra; Pourmoteabed, Abdolreza; Nourbakhsh, Mona; Ilbeigi, Davod; Khosravi, Mohsen

    2016-01-01

    Background: Ghrelin is a 28-amino acid peptide with an orexigenic property, which is predominantly produced by the stomach. Acylated ghrelin is the active form of this hormone. Obestatin is a 23-amino acid peptide which is produced by post-translational modification of a protein precursor that also produces ghrelin. Obestatin has the opposite effect of ghrelin on food intake. The aim of this study was to evaluate acylated ghrelin and obestatin levels and their ratio in obese and normal-weight children and adolescents, and their association with metabolic syndrome (MetS) parameters. Methods: Serum acyl-ghrelin, obestatin, leptin, insulin, fasting plasma glucose (FPG), lipid profile, and malondialdehyde (MDA) were evaluated in 73 children and adolescents (42 obese and 31 control). Insulin resistance was calculated by a homeostasis model assessment of insulin resistance (HOMA-IR). MetS was determined according to IDF criteria. Results: Acyl-ghrelin levels were significantly lower in obese subjects compared to the control group and lower in obese children with MetS compared to obese subjects without MetS. Obestatin was significantly higher in obese subjects compared to that of the control, but it did not differ significantly among those with or without MetS. Acyl-ghrelin to obestatin ratio was significantly lower in obese subjects compared to that in normal subjects. Acyl-ghrelin showed significant negative and obestatin showed significant positive correlations with body mass index (BMI), BMI Z-score, leptin, insulin, and HOMA-IR. Acyl-ghrelin had a significant negative correlation with MDA as an index of oxidative stress. Conclusion: Ghrelin is decreased and obestatin is elevated in obesity. Both of these hormones are associated with insulin resistance, and ghrelin is associated with oxidative stress. The balance between ghrelin and obestatin seems to be disturbed in obesity. PMID:27348010

  6. 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. PMID:23488683

  7. The Relationship Between Serum Adiponectin, Tumor Necrosis Factor−Alpha, Leptin Levels and Insulin Sensitivity in Childhood and Adolescent Obesity: Adiponectin is a Marker of Metabolic Syndrome

    PubMed Central

    Gönç, E. Nazlı; Özön, Z. Alev; Şen, Yaşar; Kandemir, Nurgün

    2009-01-01

    Objective: This study aimed (a) to investigate the relationship between the degree of obesity and serum adiponectin, tumor necrosis factor (TNF)−α, leptin, insulin levels and the lipid profile; (b) to clarify the relationship between insulin resistance/glucose tolerance and adipocytokine levels; and (c) to investigate the value of adipocytokine levels as a marker of metabolic syndrome (MS). Methods: We studied 151 obese children and adolescents (86 boys and 65 girls; mean age was 12.3±2.4 years). We defined obesity as a body−mass index (BMI) z−score more than 2 SD above the mean for age and sex. The control group consisted of 100 children (48 boys, 52 girls, mean age 12.4±2.5 years). Fasting glucose, insulin levels and lipid profiles were measured in all cases and controls after a 12−hour fast. Adiponectin, TNF−α, and leptin levels were measured in the subjects who participated in the adipocytokine branch of the study. An oral glucose tolerance test (OGTT) was also performed in all obese patients. Obese patients were grouped into three subgroups according to their glucose tolerance and insulin sensitivity assessment, and also according to whether they were grouped as MS or not. Results: Serum levels of total cholesterol, LDL and VLDL cholesterol, log triglyceride, insulin, leptin and TNF−α were higher, whereas HDL and square root adiponectin levels were lower in the obese group when compared with controls. Multiple regression analysis among BMI−z score, LDL, triglyceride, HOMA−IR, leptin and TNF−α as determinants of adiponectin revealed that BMI−z score was the only determinant for adiponectin (r:−0.45, p<0.0001). Adiponectin levels in hyperinsulinemic and impaired glucose tolerance groups (IGT) tended to be lower than in normoinsulinemic obese children, however, the difference was not significant. There was a weak negative correlation between adiponectin levels and increasing severity of insulin resistance (r=−0.23, p=0.005) in the

  8. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  9. [Postmortem genetic testing in sudden cardiac death due to ion channelopathies].

    PubMed

    Guan, Da-wei; Zhao, Rui

    2010-04-01

    Sudden cardiac death accounts for majority of deaths in human. Evident cardiac lesions that may explain the cause of death can be detected in comprehensive postmortem investigation in most sudden cardiac death. However, no cardiac morphological abnormality is found in a considerable number of cases although the death is highly suspected from cardiac anomaly. With the advances in the modern molecular biology techniques, it has been discovered that many of these sudden deaths are caused by congenital ion channelopathies in myocardial cell, i.e., Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome, etc. This article presents the molecular genetics, electrocardiographic abnormalities, clinical manifestations, and mechanisms leading to sudden cardiac death with emphasis on the role of postmortem genetic testing in certification of cause of death. It may provide helpful information in investigating sudden cardiac death due to ion channelopathies in medico-legal practice. PMID:20653139

  10. 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)

  11. 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. PMID:23054426

  12. How Are Childhood Cancers Found?

    MedlinePlus

    ... Topic How are childhood cancers treated? How are childhood cancers found? Screening for childhood cancers Screening is testing for a disease such ... in people who don’t have any symptoms. Childhood cancers are rare, and there are no widely ...

  13. 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

    2016-08-08

    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

  14. Maternal and birth characteristics in relation to childhood leukaemia.

    PubMed

    Podvin, Danise; Kuehn, Carrie M; Mueller, Beth A; Williams, Michelle

    2006-07-01

    Our objective was to investigate the association of childhood leukaemia with selected maternal and birth characteristics by conducting a population-based case-control study using linked cancer registry and birth certificate records for Washington State. We compared maternal and infant characteristics of 595 Washington-born residents <20 years old with leukaemia diagnosed during 1981-2003, and 5,950 control children, using stratified analysis and logistic regression. Maternal age 35+ years (odds ratio [OR] 1.5; 95% confidence interval [CI] 1.1, 2.0), infant birthweight 4,000+ g (OR 1.4; 95% CI 1.1, 1.8), neonatal jaundice (OR 1.5; 95% CI 1.1, 2.1), and Down's syndrome (OR 31.3; 95% CI 6.4, 153.4) were associated with an increased risk of leukaemia. Among women with 2+ pregnancies, having at least two prior early (<20 weeks' gestation) fetal deaths was also associated with an increased risk (OR 1.5; 95% CI 0.97, 2.1). Maternal unmarried status (OR 0.7; 95% CI 0.6, 0.9) and African American race (OR 0.5; 95% CI 0.3, 0.9) were associated with a decreased risk. These results were more marked for acute lymphocytic leukaemia (ALL) than for acute myeloid leukaemia (AML), and for leukaemia diagnosed <5 years of age. These results may provide clues to the aetiology of childhood leukaemia. Genetic epidemiological studies are needed to expand our knowledge of inherent and possibly prenatal influences on the occurrence of this disease. PMID:16879503

  15. [Retinal haemorrhages in non-accidental head injury in childhood].

    PubMed

    Oberacher-Velten, I M; Helbig, H

    2014-09-01

    Retinal haemorrhages are one of the three cardinal manifestations of the "shaken baby syndrome" or "non-accidental head injury" in childhood. The role of an ophthalmologist in suspected non-accidental head injury has not only medical but also legal aspects and has been discussed controversially in the literature. The differential diagnosis and the specificity of retinal haemorrhages in childhood for an abusive head trauma will be pointed out in this paper. PMID:25181505

  16. Childhood disintegrative disorder: a case report.

    PubMed

    Tapanadechopone, Pairath

    2015-03-01

    Childhood Disintegrative Disorder (CDD), a clinical syndrome distinctfrom childhood autism, is a rare unremittingly pervasive developmental disorder resultingfrom disintegration ofmentalfunctions and progressive neurological abnormality. This rare condition is characterized by regression or loss ofpreviously acquired language and social skills after a period of at least 2 years of normal development. This report presenting a case of a 10-year-old boy who presented with normal development until 3-4 years of age followed by gradually developmental deterioration in previously acquired social skills, language and intellectual functions with aberrant behaviors suggestive of childhood disintegrative disorder This case is reported as a very rare case and there is no previous official report in Thailand. PMID:26211118

  17. [Donohue syndrome or leprechaunism].

    PubMed

    Planchenault, D; Martin-Coignard, D; Rugemintwaza, D; Bah, A-G; Cosson, L; Labarthe, F; Chantepie, A; Saliba, E

    2014-02-01

    Donohue syndrome or leprechaunism is a severe congenital insulin-resistance syndrome. It is characterized by intra-uterine and neonatal growth retardation, typical dysmorphic features, and metabolic abnormalities with hyperinsulinism and hyperandrogenism. Problems in energy metabolism and loss of glucose homeostasis are responsible for early death in the first year of life. We describe a case with a novel homozygote mutation in the insulin receptor gene. This patient had hypertrophic cardiomyopathy with heart failure and bronchial compression leading to clinical deterioration over 5 days and subsequently death. A treatment with recombinant IGF-1 was tried without efficacy. PMID:24388461

  18. Childhood medulloblastoma.

    PubMed

    Massimino, Maura; Biassoni, Veronica; Gandola, Lorenza; Garrè, Maria Luisa; Gatta, Gemma; Giangaspero, Felice; Poggi, Geraldina; Rutkowski, Stefan

    2016-09-01

    Medulloblastoma accounts for 15-20% of childhood nervous system tumours. The risk of dying was reduced by 30% in the last twenty years. Patients are divided in risk strata according to post-surgical disease, dissemination, histology and some molecular features such as WNT subgroup and MYC status. Sixty to 70% of patients older than 3 years are assigned to the average-risk group. High-risk patients include those with disseminated and/or residual disease, large cell and/or anaplastic histotypes, MYC genes amplification. Current and currently planned clinical trials will: (1) evaluate the feasibility of reducing both the dose of craniospinal irradiation and the volume of the posterior fossa radiotherapy (RT) for those patients at low biologic risk, commonly identified as those having a medulloblastoma of the WNT subgroup; (2) determine whether intensification of chemotherapy (CT) or irradiation can improve outcome in patients with high-risk disease; (3) find target therapies allowing tailored therapies especially for relapsing patients and those with higher biological risk. PMID:27375228

  19. [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. PMID:24932504

  20. Childhood craniopharyngioma.

    PubMed

    Müller, Hermann L

    2013-03-01

    Craniopharyngiomas (CP) are partly cystic embryogenic malformations of the sellar and parasellar region. With an overall incidence of 0.5-2.0 new cases/million population/year, approximately 30-50 % of all cases represent childhood CP. Typical manifestations at diagnosis are headache, visual impairment, polyuria/polydypsia, growth retardation, puberty development disturbances, and significant weight gain. Therapy of choice in children with favorable tumor localization is complete resection with the intention to maintain optic nerve and hypothalamic-pituitary functions. In children with unfavorable tumor localization (hypothalamic involvement), a limited resection followed by local irradiation is recommended. Although overall surgical survival rates are high (92 %), recurrence after complete resection and progression after incomplete resection are typical post-surgical events. Particularly troublesome for the pediatric patient are the disturbances to their pubescent development and overall growth. Accordingly, the appropriate time point of irradiation after incomplete resection is under investigation in a randomized multinational trial (KRANIOPHARYNGEOM 2007). Quality of life is substantially reduced in approximately 50 % of long-term survivors due to sequelae, notably morbid hypothalamic obesity. CP should be recognized as a chronic disease requiring constant monitoring of the early life as well as post-pubescent consequences and appropriate medical resources for treatment in order to provide optimal quality of survival for patients. PMID:22678820

  1. Psychosocial development and corrective shoewear use in childhood.

    PubMed

    Driano, A N; Staheli, L; Staheli, L T

    1998-01-01

    To assess the short- and long-term psychosocial effects of wearing modified shoes during childhood, we compared measures of self-esteem and self-image of 46 adults who wore shoe modifications during childhood with 92 adult controls. The treated cases characterized their remembrance of the experience through a subjective report questionnaire. Those who wore shoe modifications during childhood showed lower self-esteem than controls (p < 0.05). In addition, the treated recalled a decrease in their self-image (41%), the experience as negative (57%), being teased about their footwear (47%), and having their activities limited (41%). These findings show that wearing shoe modifications during childhood, in addition to being ineffective and unnecessary as demonstrated in prior studies, is a negative experience in childhood and is associated with lower self-esteem in adult life. Such data suggest that children who wore modified footwear may fall into the spectrum of the vulnerable child syndrome. PMID:9600561

  2. [Acute coronary syndromes: epidemiology].

    PubMed

    Ozkan, Alev Arat

    2013-04-01

    Coronary heart disease is the main cause of death in the world as well as in Turkey. It's not only a health issue but also a social problem with a high economic burden and negative impact on quality of life. The majority of deaths are attributable to acute coronary syndromes (ACS) and their complications.This review summarizes some important facts regarding ACS epidemiology in the world and in Turkey. PMID:27323430

  3. Tooth decay - early childhood

    MedlinePlus

    Bottle mouth; Bottle carries; Baby bottle tooth decay; Early childhood caries (ECC) ... chap 304. Ribeiro NM, Ribeiro MA. Breastfeeding and early childhood caries: a critical review. J Pediatr (Rio J) . ...

  4. Stages of Childhood Rhabdomyosarcoma

    MedlinePlus

    ... risk rhabdomyosarcoma. The following risk groups are used: Low-risk childhood rhabdomyosarcoma Low-risk childhood rhabdomyosarcoma is ... therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to ...

  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. Childhood Interstitial Lung Disease

    MedlinePlus

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

  7. What Is Childhood Leukemia?

    MedlinePlus

    ... key statistics for 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 ...

  8. Childhood Brain Tumors

    MedlinePlus

    ... They are among the most common types of childhood cancers. Some are benign tumors, which aren't ... can still be serious. Malignant tumors are cancerous. Childhood brain and spinal cord tumors can cause headaches ...

  9. Apoptotic Cell Death in Neuroblastoma

    PubMed Central

    Li, Yuanyuan; Nakagawara, Akira

    2013-01-01

    Neuroblastoma (NB) is one of the most common malignant solid tumors in childhood, which derives from the sympathoadrenal lineage of the neural crest and exhibits extremely heterogeneous biological and clinical behaviors. The infant patients frequently undergo spontaneous regression even with metastatic disease, whereas the patients of more than one year of age who suffer from disseminated disease have a poor outcome despite intensive multimodal treatment. Spontaneous regression in favorable NBs has been proposed to be triggered by nerve growth factor (NGF) deficiency in the tumor with NGF dependency for survival, while aggressive NBs have defective apoptotic machinery which enables the tumor cells to evade apoptosis and confers the resistance to treatment. This paper reviews the molecules and pathways that have been recently identified to be involved in apoptotic cell death in NB and discusses their potential prospects for developing more effective therapeutic strategies against aggressive NB. PMID:24709709

  10. Wolff-Parkinson-White syndrome.

    PubMed

    Morscher, J H

    1992-02-01

    Wolff-Parkinson-White (WPW) syndrome is a cardiac conduction disorder that presents with potentially life-threatening consequences. Wolff-Parkinson-White syndrome-induced dysrhythmias account for 20% of all supraventricular tachycardias that occur in the general population. Clinical presentations range from no symptoms to a sudden cardiac arrest. The risk of sudden death is always present with WPW syndrome, and it is the motivating force in the evaluation and treatment of this syndrome. Current diagnostic modalities are accurate in identifying patients with WPW syndrome, but lack the sensitivity to predict sudden cardiac death. This article reviews the history of WPW syndrome, as well as its general characteristics, diagnostic criteria, treatment modalities, and nursing implications. PMID:1554559

  11. The concentration camp syndrome.

    PubMed

    Bower, H

    1994-09-01

    A psychiatric syndrome following overwhelming stress after an interval of more than thirty years is described in holocaust survivors who had claimed compensation for persecution between 1939 and 1945. Five nuclear symptom complexes emerge: depressive reactions; anxiety states; somatic complaints; subjective intellectual impairment; and contact abnormalities. Subjects who had experienced persecution during their childhood exhibited contact abnormalities of an aggressive type three times as often as survivors who had suffered an identical trauma as adults. PMID:7893231

  12. 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…

  13. Childhood obesity: public-health crisis, common sense cure.

    PubMed

    Ebbeling, Cara B; Pawlak, Dorota B; Ludwig, David S

    2002-08-10

    During the past two decades, the prevalence of obesity in children has risen greatly worldwide. Obesity in childhood causes a wide range of serious complications, and increases the risk of premature illness and death later in life, raising public-health concerns. Results of research have provided new insights into the physiological basis of bodyweight regulation. However, treatment for childhood obesity remains largely ineffective. In view of its rapid development in genetically stable populations, the childhood obesity epidemic can be primarily attributed to adverse environmental factors for which straightforward, if politically difficult, solutions exist. PMID:12241736

  14. Childhood family disruption and adult height: is there a mediating role of puberty?

    PubMed Central

    Sheppard, Paula; Garcia, Justin R.; Sear, Rebecca

    2015-01-01

    Background and objectives: Childhood family background is known to be associated with child growth and development, including the onset of puberty, but less is known about the influence of childhood family disruption on outcomes in later life. Given the associations between early family disruption and childhood development, we predicted that there may be long-term health-relevant consequences of childhood disruption. Methodology: Using data from a large US interview sample (n = 16 207), we test if death or divorce of parents, at different childhood periods, was associated with adult stature, and whether age at puberty mediated this relationship, for men and women. Results: Men: parental death and divorce during early childhood was associated with shorter adult height, and later puberty. Later puberty was associated with shorter adult height. Path analyses demonstrated that the relationship between parental divorce and height was completely mediated by age at puberty; although parental death was only partially mediated by age at puberty. Women: the father’s death during early childhood was associated with earlier puberty, which was in turn associated with shorter adult stature. The relationship between paternal death and height is entirely mediated by age at puberty; no evidence of a direct relationship between childhood family disruption and adult height. Conclusions: Early childhood familial disruption is associated with shorter height for men, and is partially mediated by later puberty. For women, the relationship between father’s death, and height was completely mediated by earlier puberty. These findings indicate that disruption during childhood can have long-reaching health repercussions, particularly for boys. PMID:26609061

  15. The Declaration of Sydney on human death.

    PubMed

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

    2007-12-01

    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

  16. 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

  17. Social experiences in childhood and adult psychiatric morbidity: a multiple regression analysis.

    PubMed

    Tennant, C; Bebbington, P; Hurry, J

    1982-05-01

    The effect of childhood experiences on adult psychiatric morbidity was examined in a community psychiatric survey. The Present State Examination was used to assess psychiatric morbidity. Childhood experiences assessed included childhood demographic factors and 'loss and deprivation' variables. The latter group comprised maternal and paternal deaths and separations and other disruptions in parental care 'Loss and deprivation' in combination accounted for between 4.5 and 5.5% of the variance in adult psychiatric morbidity. PMID:7100355

  18. Household furniture tip-over deaths of young children.

    PubMed

    Wolf, Barbara C; Harding, Brett E

    2011-07-01

    The potential for the injury or death of a child resulting from the tip-over of a piece of household furniture or a domestic appliance has not been previously well recognized. We reviewed nine accidental deaths of young children that resulted from avoidable residential hazards and/or lapses in supervision of the children by their caregivers. The offending household items included televisions, bedroom dressers, a kitchen stove, and a lounge chair. The causes of death were mechanical asphyxia, blunt trauma, and combined blunt head trauma and asphyxia. All of the deaths could have been prevented by appropriate anchoring of the piece of furniture and/or closer supervision of the child. A thorough multidisciplinary investigation is essential in establishing the cause and manner of death in such cases and in identifying risk factors that may aid in the prevention of future childhood deaths. PMID:21480892

  19. 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. PMID:26934824

  20. 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…