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').

Near-death experiences and the physio-kundalini syndrome.

PubMed

Greyson, B

1993-12-01

Near-death experiences (NDEs), transcendental experiences on the threshold of death with profound implications for both patient care and religious belief, have been hypothesized to be related to the awakening of a biological process known in Eastern traditions as kundalini. In a test of this proposed association between kundalini and NDEs, a sample of near-death experiencers acknowledged significantly more symptoms of a physio-kundalini syndrome than did control subjects.

Sudden infant death syndrome caused by poliomyelitis.

PubMed

Dunne, J W; Harper, C G; Hilton, J M

1984-07-01

Most seemingly well infants who die suddenly and unexpectedly have no adequate cause of death found on thorough postmortem examination. Respiratory and enteric viruses are often present, especially in the upper respiratory tract, but the infective process seems, of itself, insufficient to cause death. In the remainder of the cases, a variety of lesions will be discovered, including viral myocarditis, bronchiolitis, and sepsis. We report a case of sudden and unexpected death in a 5-week-old male infant due to acute anterior poliomyelitis. This case illustrates the importance of a thorough postmortem examination, including histologic studies of the brain stem and spinal cord in cases of sudden infant death syndrome.

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,…

Obesity and Metabolic Syndrome Among Adult Survivors of Childhood Leukemia.

PubMed

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

2016-04-01

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

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

PubMed

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

2017-08-23

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

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

PubMed

Gelfand, Amy A

2015-01-01

Previously called "childhood periodic syndromes that are commonly precursors of migraine" in International Headache Classification of Headache Disorders (ICHD)-II, these disorders were renamed "episodic syndromes that may be associated with migraine" in ICHD-III beta. The specific disorders reviewed in this article include: benign paroxysmal torticollis, benign paroxysmal vertigo, abdominal migraine, and cyclical vomiting syndrome, as well as infantile colic, which was recently added under the appendix section in ICHD-III beta. © 2015 American Headache Society.

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

PubMed Central

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

2014-01-01

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

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

PubMed

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

2017-06-01

Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

Metabolic syndrome induced by anticancer treatment in childhood cancer survivors.

PubMed

Chueh, Hee Won; Yoo, Jae Ho

2017-06-01

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

Case Study of Childhood Disintegrative Disorder--Heller's Syndrome.

ERIC Educational Resources Information Center

Bray, Melissa A.; Kehle, Thomas J.; Theodore, Lea A.; Broudy, Matthew S.

2002-01-01

Discusses the case of a 25-year-old male with childhood disintegrative disorder (CDD), or Heller's syndrome, in terms of differential diagnosis, progression of the disorder, and suggestions for home- and school-based interventions. Documents the progressive deterioration of cognitive and social competencies. (Contains 23 references.) (GCP)

Sudden death in Leigh syndrome: an autopsy case.

PubMed

Ventura, Francesco; Rocca, Gabriele; Gentile, Raffaella; De Stefano, Francesco

2012-09-01

The present report describes the sudden death of a 3-year-old female child who had been clinically diagnosed with Leigh syndrome.Leigh syndrome is a heterogeneous progressive neurodegenerative disorder, which is characterized by focal or bilateral lesions in the thalamus, basal ganglia, brainstem, cerebellum, and spinal cord. Affected patients exhibit a variable clinical picture that frequently includes psychomotor retardation or regression, recurrent episodes of vomiting, failure to thrive, and signs of brainstem and basal ganglia dysfunction.The child was found dead in bed. Autopsy described the presence of symmetrical, necrotizing lesions scattered within the basal ganglia, thalamus, diencephalon, brainstem, and spinal-cord gray matter and revealed the presence of gastric contents in the upper and lower airways. We report the results of genetic investigations and describe the histological and immunohistochemical features that confirmed the diagnosis. These findings suggest that Leigh syndrome should be regarded as predisposing children to sudden death, especially by asphyxia secondary to the neurological disorder.

Long QT syndrome and sudden unexpected infant death.

PubMed

Van Niekerk, Chantal; Van Deventer, Barbara Ströh; du Toit-Prinsloo, Lorraine

2017-09-01

Long QT syndrome (LQTS) is an inheritable primary electric disease of the heart characterised by abnormally long QT intervals and a propensity to develop atrial and ventricular tachyarrhythmias. It is caused by an inherited channelopathy responsible for sudden cardiac death in individuals with structurally normal hearts. Long QT syndrome can present early in life, and some studies suggest that it may be associated with up to 20% of sudden unexplained infant death (SUID), particularly when associated with external stressors such as asphyxia, which is commonly seen in many infant death scenes. With an understanding of the genetic defects, it has now been possible to retrospectively analyse samples from infants who have presented to forensic pathology services with a history of unexplained sudden death, which may, in turn, enable the implementation of preventative treatment for siblings previously not known to have pathogenic genetic variations. In this viewpoint article, we will discuss SUID, LQTS and postmortem genetic analysis. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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…

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…

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

PubMed

Lodish, Maya

2015-02-01

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. 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. 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.

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

PubMed

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

2016-09-01

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

Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature.

PubMed

Klingelhoefer, Lisa; Misbahuddin, Anjum; Jawad, Tania; Mellers, John; Jarosz, Jozef; Weeks, Robert; Ray Chaudhuri, Kallol

2014-07-01

Vanishing white matter disease is caused by mutations of the eukaryotic translation initiation factor 2B (EIF2B) and is a prevalent cause of inherited childhood leukoencephalopathy. Infantile and early childhood onset forms are associated with chronic progressive neurological signs, with episodes of rapid, neurological, and poor prognosis, with death in few months or years. In contrast, onset in late childhood and adult onset is rare and is associated with long-term survival because of milder signs and slow progression. We present a patient with a genetically proven vanishing white matter disease, typical brain MRI, presenting with opsoclonus myoclonus in early childhood and a delayed development of adult multifocal dystonia and schizoaffective disorder with continued survival. In addition we have also reviewed the relevant literature based on 42 previous articles summarizing clinical details of 318 individuals with vanishing white matter disease (single case reports to case series). In 283, genetic mutation of EIF2B was confirmed with the onset of vanishing white matter disease reported as antenatal (seven), infantile (eight), early childhood (107), between infantile and early childhood (20), late childhood (25), between early and late childhood (three), adult (68), and between late childhood and adult (21). Various movement disorders have been described with vanishing white matter disease either at presentation (mimicking an opsoclonus myoclonus syndrome) or in adulthood (dystonia and myoclonus) with continuing survival. Relatively preserved cognition is a novel presentation and is reported in this article along with a comprehensive literature review. Copyright © 2014 Elsevier Inc. All rights reserved.

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.

Sudden death syndrome of soybean in Argentina

USDA-ARS?s Scientific Manuscript database

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

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,…

Experience of Sibling Death in Childhood and Risk of Death in Adulthood: A National Cohort Study From Sweden.

PubMed

Rostila, Mikael; Berg, Lisa; Saarela, Jan; Kawachi, Ichiro; Hjern, Anders

2017-06-15

Although there is some evidence of an association between loss of a sibling in adulthood and subsequent mortality, there have been no previous studies in which investigators have examined whether the death of a sibling in childhood is associated with adult mortality using total population data. Data on a national cohort born in Sweden in 1973-1982 (n = 717,723) were prospectively collected from the Cause of Death Register until 2013 (i.e., from the ages of 18 years to 31-40 years). Cox proportional hazards models were used to analyze the association between sibling loss during childhood and death in young adulthood. After adjustment for sociodemographic confounders and parental psychosocial covariates, the hazard ratio for all-cause mortality in bereaved siblings versus nonbereaved siblings was 1.39 (95% confidence interval: 1.14, 1.69). Risks were more pronounced for those who lost a noninfant sibling (i.e., >1 year of age) (hazard ratio = 1.53, 95% confidence interval: 1.18, 1.95) and those who lost a sibling in adolescence (i.e., between the ages of 12 and 18 years) (hazard ratio = 1.71, 95% confidence interval: 1.24, 2.35). Excess mortality risk was found for concordant causes of death (i.e., siblings dying from the same causes) but not for discordant causes. © The Author 2017. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Risky Behaviors of Mothers with Infants on Sudden Infant Death Syndrome in Turkey.

PubMed

Erdoğan, Çiğdem; Turan, Türkan

Sudden infant death syndrome is the most common cause of death during the post-neonatal period. Factors such as sleeping position, bed sharing, pillow use, smoking during pregnancy and the breastfeeding period constitute risk factors for sudden infant death syndrome. This study aims to identify the risky behaviors of mothers with infants that may put their children at risk for sudden infant death syndrome. This is a cross-sectional, descriptive study. Data were collected using a questionnaire that was developed by the researchers. The questionnaire was filled out by 456 mothers who applied to the family health center between October 2014 and January 2015. The greatest risk factor is the infant's sleeping position. A total of 77.9% of the mothers put their babies in bed in a non-supine position; 65.8% used a pillow when they put their babies in bed, 52.9% used a soft mattress, and 28.5% shared their beds with their babies. Prone sleeping was more likely to occur when smoke was present in the home or a pillow was used. Nurses should notify families of the risky behaviors that can cause sudden infant death syndrome and plan appropriate nursing care. Copyright © 2017 Elsevier Inc. All rights reserved.

Features, Treatment, and Outcomes of Macrophage Activation Syndrome in Childhood-Onset Systemic Lupus Erythematosus.

PubMed

Borgia, R Ezequiel; Gerstein, Maya; Levy, Deborah M; Silverman, Earl D; Hiraki, Linda T

2018-04-01

To describe the features and treatment of macrophage activation syndrome (MAS) in a single-center cohort of patients with childhood-onset systemic lupus erythematosus (SLE), and to compare childhood-onset SLE manifestations and outcomes between those with and those without MAS. We included all patients with childhood-onset SLE followed up at The Hospital for Sick Children from 2002 to 2012, and identified those also diagnosed as having MAS. Demographic, clinical, and laboratory features of MAS and SLE, medication use, hospital and pediatric intensive care unit (PICU) admissions, as well as damage indices and mortality data were extracted from the Lupus database. Student's t-tests and Fisher's exact tests were used to compare continuous and categorical variables, respectively. We calculated incidence rate ratios of hospital and PICU admissions comparing patients with and those without MAS, using Poisson models. Kaplan-Meier survival analysis was used to examine the time to disease damage accrual. Of the 403 patients with childhood-onset SLE, 38 (9%) had MAS. The majority (68%) had concomitant MAS and SLE diagnoses. Fever was the most common MAS clinical feature. The frequency of renal and central nervous system disease, hospital admissions, the average daily dose of steroids, and time to disease damage were similar between those with and those without MAS. We observed a higher mortality rate among those with MAS (5%) than those without MAS (0.2%) (P = 0.02). MAS was most likely to develop concomitantly with childhood-onset SLE diagnosis. The majority of the MAS patients were successfully treated with corticosteroids with no MAS relapses. Although the numbers were small, there was a higher risk of death associated with MAS compared to SLE without MAS. © 2018, American College of Rheumatology.

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

PubMed Central

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

2016-01-01

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

Classification of deaths in women with human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth.

PubMed

Brayner, Manuella Coutinho; Alves, Sandra Valongueiro

2017-01-01

To reclassify deaths of women infected with the human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth in the State of Pernambuco, Brazil, from 2000 to 2010. A descriptive exploratory study, developed from the following steps: translation to Portuguese of the item "HIV and aids" of the United Nations document "The WHO application of ICD-10 to deaths during pregnancy, childbirth and the puerperium: DCI MM 2012"; development of a classification algorithm of deaths of women living with the human immunodeficiency virus/acquired immunodeficiency syndrome in pregnancy and childbirth; and reclassification of deaths by a group of experts. Among the 25 reclassified deaths, 12 were due to human immunodeficiency virus/acquired immunodeficiency syndrome, and pregnancy condition was coexisting; 9 were reclassified as indirect maternal death, with O98.7 code, proposed by the World Health Organization; 2 as direct/indirect maternal death; and 2 were considered indeterminate. The reclassification showed a possible pattern of change in maternal mortality, since most of the deaths were attributed to the virus and may lead to a reduction in deaths from maternal causes. The algorithm will subsidize the use of the new classification of maternal death and human immunodeficiency virus/acquired immunodeficiency syndrome.

Causes of Early Childhood Deaths in Urban Dhaka, Bangladesh

PubMed Central

Halder, Amal K.; Gurley, Emily S.; Naheed, Aliya; Saha, Samir K.; Brooks, W. Abdullah; Arifeen, Shams El; Sazzad, Hossain M. S.; Kenah, Eben; Luby, Stephen P.

2009-01-01

Data on causes of early childhood death from low-income urban areas are limited. The nationally representative Bangladesh Demographic and Health Survey 2007 estimates 65 children died per 1,000 live births. We investigated rates and causes of under-five deaths in an urban community near two large pediatric hospitals in Dhaka, Bangladesh and evaluated the impact of different recall periods. We conducted a survey in 2006 for 6971 households and a follow up survey in 2007 among eligible remaining households or replacement households. The initial survey collected information for all children under five years old who died in the previous year; the follow up survey on child deaths in the preceding five years. We compared mortality rates based on 1-year recall to the 4 years preceding the most recent 1 year. The initial survey identified 58 deaths among children <5 years in the preceding year. The follow up survey identified a mean 53 deaths per year in the preceding five years (SD±7.3). Under-five mortality rate was 34 and neonatal mortality was 15 per thousand live births during 2006–2007. The leading cause of under-five death was respiratory infections (22%). The mortality rates among children under 4 years old for the two time periods (most recent 1-year recall and the 4 years preceding the most recent 1 year) were similar (36 versus 32). The child mortality in urban Dhaka was substantially lower than the national rate. Mortality rates were not affected by recall periods between 1 and 5 years. PMID:19997507

Childhood overweight, obesity, and the metabolic syndrome in developing countries.

PubMed

Kelishadi, Roya

2007-01-01

The incidence of chronic disease is escalating much more rapidly in developing countries than in industrialized countries. A potential emerging public health issue may be the increasing incidence of childhood obesity in developing countries and the resulting socioeconomic and public health burden faced by these countries in the near future. In a systematic review carried out through an electronic search of the literature from 1950-2007, the author compared data from surveys on the prevalence of overweight, obesity, and the metabolic syndrome among children living in developing countries. The highest prevalence of childhood overweight was found in Eastern Europe and the Middle East, whereas India and Sri Lanka had the lowest prevalence. The few studies conducted in developing countries showed a considerably high prevalence of the metabolic syndrome among youth. These findings provide alarming data for health professionals and policy-makers about the extent of these problems in developing countries, many of which are still grappling with malnutrition and micronutrient deficiencies. Time trends in childhood obesity and its metabolic consequences, defined by uniform criteria, should be monitored in developing countries in order to obtain useful insights for primordial and primary prevention of the upcoming chronic disease epidemic in such communities.

Parental perceptions of siblings' grieving after a childhood cancer death: a longitudinal study.

PubMed

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 = 75) post-death. Data are analyzed combined and over time. The following themes emerged: (a) expression of grief missing deceased child (verbally, crying), behavioral problems, difficulty understanding the meaning of death (pre-schoolers), and avoiding talking with parents about feelings (adolescents); (b) what helps siblings grief moving on, talking about deceased child and social support; (c) relationship with parents improved for most siblings; and (d) bond with deceased sibling: pretend-play (preschoolers), dreaming, and career choices (adolescents). Over time, themes reflected stability and change.

Death Within 1 Month of Diagnosis in Childhood Cancer: An Analysis of Risk Factors and Scope of the Problem.

PubMed

Green, Adam L; Furutani, Elissa; Ribeiro, Karina Braga; Rodriguez Galindo, Carlos

2017-04-20

Purpose Despite advances in childhood cancer care, some patients die soon after diagnosis. This population is not well described and may be under-reported. Better understanding of risk factors for early death and scope of the problem could lead to prevention of these occurrences and thus better survival rates in childhood cancer. Methods We retrieved data from SEER 13 registries on 36,337 patients age 0 to 19 years diagnosed with cancer between 1992 and 2011. Early death was defined as death within 1 month of diagnosis. Socioeconomic status data for each individual's county of residence were derived from Census 2000. Crude and adjusted odds ratios and corresponding 95% CIs were estimated for the association between early death and demographic, clinical, and socioeconomic factors. Results Percentage of early death in the period was 1.5% (n = 555). Children with acute myeloid leukemia, infant acute lymphoblastic leukemia, hepatoblastoma, and malignant brain tumors had the highest risk of early death. On multivariable analysis, an age younger than 1 year was a strong predictor of early death in all disease groups examined. Black race and Hispanic ethnicity were both risk factors for early death in multiple disease groups. Residence in counties with lower than median average income was associated with a higher risk of early death in hematologic malignancies. Percentages of early death decreased significantly over time, especially in hematologic malignancies. Conclusion Risk factors for early death in childhood cancer include an age younger than 1 year, specific diagnoses, minority race and ethnicity, and disadvantaged socioeconomic status. The population-based disease-specific percentages of early death were uniformly higher than those reported in cooperative clinical trials, suggesting that early death is under-reported in the medical literature. Initiatives to identify those at risk and develop preventive interventions should be prioritized.

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

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

PubMed

Benito Bartolomé, F; Sánchez Fernández-Bernal, C

2001-04-01

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

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

PubMed

Mack, K Y

2001-01-01

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

Sudden and unexpected childhood deaths investigated at the Pretoria Medico-Legal Laboratory, South Africa, 2007 - 2011.

PubMed

Van Deventer, B S; Rossouw, S H; Du Toit-Prinsloo, L

2016-09-06

 Sudden and unexpected death is well known to occur in infants, and although sudden deaths are less frequent after the first birthday, they still account for a significant proportion of childhood deaths. In 2009, 1.9% of the total deaths in the USA were childhood deaths. In South Africa (SA) this proportion was much higher at 11.85%. According to the law, sudden and unexpected deaths are generally investigated as unnatural deaths. Establishing an exact underlying anatomical cause of death will depend on available resources and can be difficult in a substantial proportion of cases.  A retrospective descriptive case audit was conducted at the Pretoria Medico-Legal Laboratory (PMLL), SA, from 1 January 2007 through to 31 December 2011. All children aged 1 - 18 years who died suddenly and unexpectedly were included.  Ninety-eight cases were identified, which constituted nearly 1% of total admissions to the PMLL. The majority of the deaths were of children aged 1 - 5 years, and the male/female ratio was 1.04:1. In the largest proportion of cases (n=28, 28.6%), the medicolegal investigation, including autopsy and ancillary investigations, did not establish an underlying anatomical cause of death. In the cases where a cause of death was established, pneumonia was the most common diagnosis (n=22, 22.4%).  The fact that the cause of the largest proportion of deaths could not be ascertained emphasises the need for consideration of additional investigative techniques, such as molecular/genetic screening, which have provided an underlying cause of death in a significant number of cases in other countries. There is a lack of published research on the causes and incidence of sudden unexpected deaths in children in SA, and further research in this area is needed.

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.

Childhood death rates declined in Sweden from 2000 to 2014 but deaths from external causes were not always investigated.

PubMed

Otterman, Gabriel; Lahne, Klara; Arkema, Elizabeth V; Lucas, Steven; Janson, Staffan; Hellström-Westas, Lena

2018-03-08

Countries that conduct systematic child death reviews report a high proportion of modifiable characteristics among deaths from external causes, and this study examined the trends in Sweden. We analysed individual-level data on external, ill-defined and unknown causes from the Swedish cause of death register from 2000 to 2014, and mortality rates were estimated for children under the age of one and for those aged 1-14 and 15-17 years. Child deaths from all causes were 7914, and 2006 (25%) were from external, ill-defined and unknown causes: 610 (30%) were infants, 692 (34%) were 1-14 and 704 (35%) were 15-17. The annual average was 134 cases (range 99-156) during the study period. Mortality rates from external, ill-defined and unknown causes in children under 18 fell 19%, from 7.4 to 6.0 per 100 000 population. A sizeable number of infant deaths (8.0%) were registered without a death certificate during the study period, but these counts were lower in children aged 1-14 (1.3%) and 15-17 (0.9%). Childhood deaths showed a sustained decline from 2000 to 2014 in Sweden and a quarter were from external, ill-defined or unknown causes. Systematic, interagency death reviews could yield information that could prevent future deaths. ©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Autopsies of sudden infant death syndrome--classification and epidemiology.

PubMed

Hatton, F; Bouvier-Colle, M H; Barois, A; Imbert, M C; Leroyer, A; Bouvier, S; Jougla, E

1995-12-01

An enquiry into sudden infant death syndrome (SIDS) in 1987 furnished us with detailed epidemiological data for 281 cases that underwent a thorough post-mortem examination. This analysis uses these data to evaluate the role the autopsy plays in explaining sudden death. The cases were classified into three diagnostic groups: explained causes of death (group 1), unexplained deaths with anomalies (group 2), and no anomaly (group 3). These 281 cases show the three essential features that characterize SIDS: over-representation of males, increased deaths during the second and third months of life, and increased deaths during winter. The autopsy examination revealed that many of these deaths had a medical explanation. Almost half were assigned to group 1. At the time of autopsy, no precise pathology could be diagnosed for 147 deaths; of these, 140 showed histological anomalies. There were only seven sudden deaths for which no abnormal sign was evident at the autopsy. These results are compared with those of similar studies and discussed in connection with three factors: the initial selection of cases, the nature and degree of the investigations, and the possible interpretations of the symptoms uncovered.

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

PubMed Central

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

2017-01-01

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

Childhood bladder and bowel dysfunction predicts irritable bowel syndrome phenotype in adult interstitial cystitis/bladder pain syndrome patients.

PubMed

Doiron, R Christopher; Kogan, Barry A; Tolls, Victoria; Irvine-Bird, Karen; Nickel, J Curtis

2017-08-01

Many clinicians have suggested that a history of bladder and bowel dysfunction (BBD) in childhood predisposes to the development of interstitial cystitis/bladder pain syndrome (IC/BPS) or irritable bowel syndrome (IBS) in adulthood. We hypothesized that BBD symptoms in childhood would predict the IBS-associated phenotype in adult IC/BPS patients. Consecutive female patients (n=190) with a diagnosis of IC/BPS were administered a modified form of a clinical BBD questionnaire (BBDQ) to capture childhood BBD-like symptoms, as well as Interstitial Cystitis Symptoms Index (ICSI), Interstitial Cystitis Problem Index (ICPI), Pelvic Pain and Urgency/Frequency (PUF) questionnaires and UPOINT categorization. Patients were stratified to IBS-positive or IBS-negative according to clinical assessment of IBS-like symptoms. The 127 patients (67%) identified with IBS-like symptoms recalled significantly higher BBDQ scores than the 63 patients (33%) who were IBS-negative (2.8 vs. 2.3; p=0.05). The IBS-positive patients also reported a higher number of UPOINT domains than their non-IBS counterparts (3.8 vs. 2.9; p=0.0001), while their PUF total scores were significantly higher (13.6 vs. 12.3; p=0.04). IBS-positive patients more often recalled that in childhood they did not have a daily bowel movement (BM) (p=0.04) and had "to push for a BM" (p=0.009). In childhood, they "urinated only once or twice per day" (p=0.03) and recalled "painful urination" more than those without IBS (p=0.03). There were no significant differences between the groups in answers to the other five questions of the BBDQ. Our symptom recollection survey was able to predict the IBS phenotype of IC/BPS based on a childhood BBDQ. Further prospective studies are needed to further evaluate these novel findings.

Controlled trial of azathioprine in treatment of steroid-responsive nephrotic syndrome of childhood.

PubMed

Barratt, T M; Cameron, J S; Chantler, C; Counahan, R; Ogg, C S; Soothill, J F

1977-06-01

A controlled trial of azathioprine treatment of steroid-responsive frequent-relapsing nephrotic syndrome of childhood failed to show a therapeutic effect on the stability of remission after withdrawal of corticosteroid treatment.

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

PubMed

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

2011-07-01

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

Changing patterns of childhood mortality in Wolverhampton

PubMed Central

Moore, A

2005-01-01

Objectives: To review the incidence and characteristics of preventable childhood deaths in an urban population in the UK and to determine whether the excess of preventable deaths seen previously in Asian girls still exists. Design: A retrospective survey of childhood deaths from 1996–2002 classified in terms of preventability and compared with a previous study conducted 20 years earlier from 1976–82. Setting: The city of Wolverhampton in the UK. Main outcome measures: Deaths from all causes in children under the age of 5 years. Results: There has been a reduction in the number of deaths in all age groups and from all causes. The postneonatal mortality rate fell from 6.5/1000 in 1976 to 3.1/1000 live births in 2002 largely because of the fall in the numbers of deaths caused by sudden infant death syndrome (SIDS). Preventable deaths are still associated with low birth weight (p<0.001) and poverty (unemployment and overcrowding in the earlier study (p<0.05) and with the Townsend score in this study (p<0.02)). There were fewer deaths among Asians and no female excess. There was a new category not seen in the previous study, deaths caused by homicide. The death rate for homicide in the first year of life was much higher in Wolverhampton (18.7/100 000) than in England and Wales (4.6/100 000). Conclusions: Low birth weight and adverse socioeconomic conditions remain important factors associated with preventable deaths. There is no longer an increased risk of preventable death in Asian girls. The number of non-accidental deaths is a major cause for concern. PMID:15970609

Hantavirus pulmonary syndrome: prognostic factors for death in reported cases in Brazil.

PubMed

da Rosa Elkhoury, Mauro; da Silva Mendes, Wellington; Waldman, Eliseu Alves; Dias, Juarez Pereira; Carmo, Eduardo Hage; Fernando da Costa Vasconcelos, Pedro

2012-05-01

Hantavirus pulmonary syndrome (HPS) was described for the first time in Brazil in 1993 and has occurred endemically throughout the country. This study analysed clinical and laboratory aspects as well as death-related factors for HPS cases in Brazil from 1993 to 2006. The investigation comprised a descriptive and exploratory study of the history of cases as well as an analytical retrospective cohort survey to identify prognostic factors for death due to HPS. A total of 855 Brazilian HPS cases were assessed. The majority of cases occurred during spring (33.5%) and winter (27.6%), mainly among young male adults working in rural areas. The global case fatality rate was 39.3%. The mean interval between the onset of symptoms and hospitalisation was 4 days and that between hospitalisation and death was 1 day. In the multiple regression analysis, adult respiratory distress syndrome and mechanical respiratory support were associated with risk of death; when these two variables were excluded from the model, dyspnoea and haemoconcentration were associated with a higher risk of death. Copyright © 2012 Royal Society of Tropical Medicine and Hygiene. Published by Elsevier Ltd. All rights reserved.

Childhood obesity affects adult metabolic syndrome and diabetes.

PubMed

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

2015-09-01

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

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

PubMed Central

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

2011-01-01

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

Cardiovascular causes of maternal sudden death. Sudden arrhythmic death syndrome is leading cause in UK.

PubMed

Krexi, Dimitra; Sheppard, Mary N

2017-05-01

This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7 years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

Cardiovascular causes of maternal sudden death. Sudden Arrhythmic Death Syndrome is leading cause in UK.

PubMed

Krexi, Dimitra; Sheppard, Mary N

2017-09-01

This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

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

PubMed

Ventura, F; Portunato, F; Celesti, R

2010-04-01

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

Childhood Age and Associations Between Childhood Metabolic Syndrome and Adult Risk for Metabolic Syndrome, Type 2 Diabetes Mellitus and Carotid Intima Media Thickness: The International Childhood Cardiovascular Cohort Consortium.

PubMed

Koskinen, Juha; Magnussen, Costan G; Sinaiko, Alan; Woo, Jessica; Urbina, Elaine; Jacobs, David R; Steinberger, Julia; Prineas, Ronald; Sabin, Matthew A; Burns, Trudy; Berenson, Gerald; Bazzano, Lydia; Venn, Alison; Viikari, Jorma S A; Hutri-Kähönen, Nina; Raitakari, Olli; Dwyer, Terence; Juonala, Markus

2017-08-16

There is paucity of knowledge concerning the specific age in youth when the associations of metabolic syndrome (MetS) begin to be operative. Thus, we investigated the relation of age to the associations of childhood MetS with adult MetS, type 2 diabetes mellitus and high carotid intima-media thickness. Five thousand eight-hundred three participants were analyzed in 4 cohort studies (Cardiovascular Risk in Young Finns, Bogalusa Heart Study, Princeton Lipid Research Study, Insulin Study). International cutoffs and previously used 75th percentile cutoffs were used for children to define MetS and its components. Mean follow-up period was 22.3 years. Logistic regression was used to calculate risk ratios and 95% confidence intervals. Childhood MetS and overweight were associated with over 2.4-fold risk for adult MetS from the age of 5 years onward. Risk for type 2 diabetes mellitus was increased from the age of 8 (risk ratio, 2.6-4.1; 95% confidence interval, 1.35-6.76 and 1.12-7.24, respectively) onward for the 2 childhood MetS criteria based on international cut-off values and for childhood overweight. Risk for high carotid intima-media thickness was significant at ages 11 to 18 years in relation to childhood MetS or overweight (risk ratio, 2.44-4.22; 95% confidence interval, 1.55-3.55 and 2.55-5.66, respectively). Continuous childhood MetS score was associated with adult MetS from the age of 5, with type 2 diabetes mellitus from the age of 14 and with high carotid intima-media thickness from the age of 11 years onward. Adult MetS was predicted by MetS in childhood beginning at age 5. However, adult type 2 diabetes mellitus and subclinical atherosclerosis were not predicted by childhood data until after age 8. Body mass index measurement alone at the same age points provided similar findings. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

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

Transition of Care from Childhood to Adulthood: Turner Syndrome.

PubMed

Conway, Gerard

2018-01-01

Girls with Turner syndrome (TS) require special consideration during transition from childhood to adult care. During the transition years, treatment for short stature will be completed and sexual development induced in parallel with the peer group. The timing of sexual development may have later repercussions with respect to psychosocial development and partnership status. Late presentation of TS, which is so common, can result in additional difficulties with the transition process. © 2018 S. Karger AG, Basel.

Detection of sudden death syndrome using a multispectral imaging sensor

USDA-ARS?s Scientific Manuscript database

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

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

PubMed

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

2017-10-01

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

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

PubMed

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.

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

USDA-ARS?s Scientific Manuscript database

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

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…

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

PubMed Central

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

2017-01-01

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

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…

Unexpected infant death due to hypoplastic left heart syndrome: a case report.

PubMed

Hayashizaki, Yoshie; Usui, Kiyotaka; Moriya, Takuya; Hashiyada, Masaki; Usui, Akihito; Hosokai, Yoshiyuki; Kawasumi, Yusuke; Saito, Haruo; Funayama, Masato

2011-11-01

A female infant was found unresponsive at home. The mother alleged that she delivered the baby at home 13 days prior to the death. The mother did not have any prenatal examinations during the pregnancy and the infant was not examined by a doctor until death. The autopsy revealed that the cause of death was hypoplastic left heart syndrome (HLHS) and the infant's chest showed bilateral breast enlargement. Forensic pathologists may encounter very rare pathological findings with unexpected infant deaths. Some, like HLHS, are serious congenital heart defects related to the cause of death, and others are unique phenomena unrelated to the cause of death such as breast swelling and discharge called "witch's milk." In this case, we observed both findings. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

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

PubMed

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

2015-10-01

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

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.…

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

PubMed

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

2010-01-07

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

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…

Childhood trauma and metabolic syndrome in men and women.

PubMed

Lee, Chioun; Tsenkova, Vera; Carr, Deborah

2014-03-01

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

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.

Trends in socioeconomic inequalities in risk of sudden infant death syndrome, other causes of infant mortality, and stillbirth in Scotland: population based study.

PubMed

Wood, Angela M; Pasupathy, Dharmintra; Pell, Jill P; Fleming, Michael; Smith, Gordon C S

2012-03-16

To compare changes in inequalities in sudden infant death syndrome with other causes of infant mortality and stillbirth in Scotland, 1985-2008. Retrospective cohort study. Scotland 1985-2008, analysed by four epochs of six years. Singleton births of infants with birth weight >500 g born at 28-43 weeks' gestation. Sudden infant death syndrome, other causes of postneonatal infant death, neonatal death, and stillbirth. Odds ratios expressed as the association across the range of seven categories of Carstairs deprivation score. The association between deprivation and the risk of all cause stillbirth and infant death varied between the four epochs (P=0.04). This was wholly explained by variation in the risk of sudden infant death syndrome (P<0.001 for interaction). Among women living in areas of low deprivation, there was a sharp decline in the rate of sudden infant death syndrome from 1990 to 1993. Among women living in areas of high deprivation, there was a slower decline in sudden infant death syndrome rates between 1992 and 2004. Consequently, the odds ratio for the association between socioeconomic deprivation and sudden infant death syndrome increased from 2.04 (95% confidence interval 1.53 to 2.72) in 1985-90, to 7.52 (4.62 to 12.25) in 1991-6, and 9.50 (5.46 to 16.53) in 1997-2002 but fell to 1.78 (0.87 to 3.65) in 2002-8. The interaction remained significant after adjustment for maternal characteristics. The rate of sudden infant death syndrome declined throughout Scotland in the early 1990s. The decline had a later onset and was slower among women living in areas of high deprivation, probably because of slower uptake of recommended changes in infant sleeping position. The effect was to create a strong independent association between deprivation and sudden infant death syndrome where one did not exist before.

Neuropathological Developments in Sudden Infant Death Syndrome.

PubMed

Bright, Fiona M; Vink, Robert; Byard, Roger W

2018-01-01

A wide variety of neuropathological abnormalities have been investigated in infants who have died of sudden infant death syndrome (SIDS). Issues which detracted from early studies included failure to use uniform definitions of SIDS and lack of appropriately matched control populations. Development of the triple risk model focused attention on the concept of an inherent susceptibility to unexpected death in certain infants, with research demonstrating a role for the neurotransmitter serotonin within the brainstem. However, it now appears that neuropathological abnormalities in SIDS infants are more complex than a simple serotonergic deficiency in certain medullary nuclei but instead could involve failure of an integrated network of neurochemical transmitters in a variety of subcortical locations. The following overview examines recent research developments looking particularly at the potential role of the peptide neurotransmitter substance P and its neurokinin-1 receptor in multiple nuclei within the brainstem, asymmetry and microdysgenesis of the hippocampus, and decreased orexin levels within dorsomedial, perifornical, and lateral levels in the hypothalamus. Whether such research will lead to identifiable biomarker for infants at risk of SIDS is yet to be established. Use of standardized and consistent methods of classifying and categorizing infant deaths will be pivotal in generating reproducible research results.

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

ClinicalTrials.gov

2017-07-10

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

An evaluation of childhood deaths in Turkey due to yellow phosphorus in firecrackers.

PubMed

Yilmaz, Riza; Yilmaz, Eyyüp; Ozdemir, Veli; Can, Muhammet; Pakis, Isil; Piskin, Ibrahim E; Dokgoz, Halis; Ozer, Erdal; Numanoglu, Kemal V

2015-05-01

Yellow phosphorus (YP) is a powerful protoplasmic poison used in the manufacturing of matches, pest poisons, firecrackers, firework cracker, lights for watches, military ammunition, and agriculture fertilizer. YP is extremely flammable and toxic and easily absorbed from the gastrointestinal tract. In this study, we examined childhood deaths from 1997 to 2012 resulting from the ingestion of firecrackers. The patients ranged from 2 to 15 years of age and were admitted to the hospital with a variety of symptoms. Those that presented with nausea, vomiting, and hypotension rapidly deteriorated and entered a coma. An autopsy was performed in all but one of the 16 cases reviewed. Macroscopically, the livers had a yellowish discoloration with petechial bleeding. Histopathologic examination revealed acute toxic hepatitis. In conclusion, these firecrackers are found in corner shops throughout Turkey, may cause death in children with little warning, and should be banned to prevent further deaths. © 2015 American Academy of Forensic Sciences.

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.

The Brainstem and Serotonin in the Sudden Infant Death Syndrome

PubMed Central

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

2012-01-01

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

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

PubMed

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

2017-06-28

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

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…

Trends in socioeconomic inequalities in risk of sudden infant death syndrome, other causes of infant mortality, and stillbirth in Scotland: population based study

PubMed Central

Wood, Angela M; Pasupathy, Dharmintra; Pell, Jill P; Fleming, Michael

2012-01-01

Objectives To compare changes in inequalities in sudden infant death syndrome with other causes of infant mortality and stillbirth in Scotland, 1985-2008. Design Retrospective cohort study. Setting Scotland 1985-2008, analysed by four epochs of six years. Participants Singleton births of infants with birth weight >500 g born at 28-43 weeks’ gestation. Main outcome measures Sudden infant death syndrome, other causes of postneonatal infant death, neonatal death, and stillbirth. Odds ratios expressed as the association across the range of seven categories of Carstairs deprivation score. Results The association between deprivation and the risk of all cause stillbirth and infant death varied between the four epochs (P=0.04). This was wholly explained by variation in the risk of sudden infant death syndrome (P<0.001 for interaction). Among women living in areas of low deprivation, there was a sharp decline in the rate of sudden infant death syndrome from 1990 to 1993. Among women living in areas of high deprivation, there was a slower decline in sudden infant death syndrome rates between 1992 and 2004. Consequently, the odds ratio for the association between socioeconomic deprivation and sudden infant death syndrome increased from 2.04 (95% confidence interval 1.53 to 2.72) in 1985-90, to 7.52 (4.62 to 12.25) in 1991-6, and 9.50 (5.46 to 16.53) in 1997-2002 but fell to 1.78 (0.87 to 3.65) in 2002-8. The interaction remained significant after adjustment for maternal characteristics. Conclusion The rate of sudden infant death syndrome declined throughout Scotland in the early 1990s. The decline had a later onset and was slower among women living in areas of high deprivation, probably because of slower uptake of recommended changes in infant sleeping position. The effect was to create a strong independent association between deprivation and sudden infant death syndrome where one did not exist before. PMID:22427307

The Relationships of Attachment Style and Social Maladjustment to Death Ideation in Depressed Women with a History of Childhood Sexual Abuse

PubMed Central

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

2012-01-01

Objective Women who experience both depression and a history of childhood sexual abuse are at substantially greater risk for suicide compared to those who experience depression alone. Though psychiatric diagnoses, such as Major Depression and Borderline Personality Disorder, are often considered in the assessment and management of suicide risk, understanding how enduring characteristics interact with contextual factors to result in suicide-related thoughts and behaviors may be more useful for identifying specific targets for intervention. Design The current study used cross-sectional survey methodology to examine 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. Results Social maladjustment was associated with greater likelihood of endorsing death ideation. Avoidant and anxious attachment orientations moderated the social maladjustment and death ideation associations in some domains. Specifically, work-related social maladjustment was associated with greater odds of death ideation for those with higher levels of attachment avoidance. Parent-role related maladjustment was associated with greater odds of death ideation for those with lower levels of attachment anxiety. Conclusions Findings demonstrate strong associations between death ideation and acute social maladjustment, and suggest that death ideation may be specific to certain domains of adjustment for anxious and avoidant attachment styles. Implications for the conceptualization and treatment of patients who report death ideation are discussed. PMID:22125120

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

Deaths in childhood from cystic fibrosis: 10-year analysis from two London specialist centres.

PubMed

Urquhart, Donald S; Thia, Lena P; Francis, Jackie; Prasad, S Ammani; Dawson, Charlie; Wallis, Colin; Balfour-Lynn, Ian M

2013-02-01

Death in childhood from cystic fibrosis (CF) is now an uncommon event in the U.K. We wished to assess the circumstances surrounding deaths (and lung transplantation) in the modern era of CF care. A retrospective review was carried out pooling data from two large paediatric specialist CF units in London for the 10-year period 2000-2009 inclusive. There were 11 deaths and eight children who had a lung transplant out of 1022 children cared for in this period. Median age of death was 14.2 years and transplant 13.0 years, with a female preponderance (82% deaths and 75% transplants). Apart from one child (forced expiratory volume in 1 s (FEV1) 69%), lung function indicated severe lung disease (median FEV1 33%, range 12%-69%). Values 5 years prior to death were not predictive (median FEV1 62%, range 32%-96%), and those 1 year prior were similar to the last recorded levels. Almost all (10/11) died in hospital and 5/11 (45%) were ventilated. Respiratory failure was the commonest mode of death (64%). Only four children (36%) were receiving palliative care, and in six cases (55%) care was withdrawn. The number of deaths in children with CF was small but often unpredictable, so active management was continued until late in the majority, reflected by the fact that almost all were in hospital, and more than half were ventilated. If death from respiratory failure is anticipated following a steady decline, palliative care should be instituted well in advance, with attention to appropriate end of life care.

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

PubMed

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

2015-01-01

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

A teenager revisits her father's death during childhood: a study in resilience and healthy mourning.

PubMed

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. Results indicated that Debbie experienced healthy mourning--without depression or other debilitating effects--due to supportive people in her family, her strong self-concept, and her capacity to think through her experiences positively. Evidence of protective factors, notably Debbie's relationship with her mother, contributed to her resilience. The author concludes that childhood bereavement studies and resilience research can be mutually informative and that dialogue between their practitioners should increase.

Dehydration and heat-related death: sweat lodge syndrome.

PubMed

Byard, Roger W; Riches, Karen J

2005-09-01

A 37-year-old Caucasian male died of dehydration and heat exposure following a sweat lodge ceremony in outback Australia. The case demonstrates difficulties that may arise in the determination of the cause of death at autopsy due to nonspecific pathologic findings in hyperthermic deaths. There are also a number of features that characterize this particular "sweat lodge syndrome," including prolonged exposure to elevated temperatures in a relatively uncontrolled environment, failure to ensure adequate hydration, failure to appreciate the significance of loss of consciousness, use of ineffective alternative methods of treatment, and delay in seeking appropriate medical care. Unfortunately, the adoption of rituals and practice from other cultures may not be a completely safe undertaking. Participants in this type of activity must be cognizant of the types of medical problems that may arise. Individuals with significant cardiovascular disease, those who are taking certain medications that predispose to hyperthermia, or those who have had large amounts of alcohol should not enter sweat lodges.

Good News About Childhood Cancer

MedlinePlus

... years, five-year survival rates have increased and death rates have decreased for most childhood cancers. Both improvements ... of U.S. and international trends in incidence and death rates for childhood cancers Studies to better understand the ...

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…

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…

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

USDA-ARS?s Scientific Manuscript database

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

Impact of Acute Coronary Syndrome Complicated by Ventricular Fibrillation on Long-term Incidence of Sudden Cardiac Death.

PubMed

Álvarez-Álvarez, Belén; Bouzas-Cruz, Noelia; Abu-Assi, Emad; Raposeiras-Roubin, Sergio; López-López, Andrea; González Cambeiro, María Cristina; Peña-Gil, Carlos; García-Acuña, José María; González-Juanatey, José Ramón

2015-10-01

There is little information on the effect of acute coronary syndrome complicated by ventricular fibrillation on the long-term incidence of sudden cardiac death. We analyzed this effect in a contemporary cohort of patients with acute coronary syndrome. We studied 5302 consecutive patients with acute coronary syndrome between December 2003 and December 2012. We compared mortality during and after hospitalization according to the presence or absence of ventricular fibrillation. Ventricular fibrillation was observed in 163 (3.1%) patients, and was early onset in 72.4% of these patients. In-hospital mortality was 36.2% in the group with ventricular fibrillation and 4.7% in the group without (p<.001). After a mean follow-up of 4.7 years (standard deviation, 2.6 years), mortality was 30.7% in the ventricular fibrillation group and 24.7% in the other group (P=.23). After adjusting for confounding variables, the presence of ventricular fibrillation was not associated with an increased risk of death in the follow-up period (hazard ratio=1.29; 95% confidence interval, 0.90-1.87). The cause of death was established in 72% of patients. The incidence of sudden death was 12.9% in the ventricular fibrillation group and 11.9% in the other group (P=.71). Cardiovascular-cause mortality was also similar between the 2 groups (35.5% and 34.4%, respectively. Patients with acute coronary syndrome complicated by ventricular fibrillation who survive the in-hospital phase do not appear to be at an increased risk of sudden cardiac death or other cardiovascular-cause death. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

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

ERIC Educational Resources Information Center

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

2017-01-01

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

Practical management of chronic fatigue syndrome or myalgic encephalomyelitis in childhood.

PubMed

Brigden, Amberly; Loades, Maria; Abbott, Anna; Bond-Kendall, Joanne; Crawley, Esther

2017-10-01

Paediatric chronic fatigue syndrome or myalgic encephalomyelitis affects at least 1% of secondary school children in the UK and is very disabling. Treatment is effective but few children get a diagnosis or access treatment. This paper summarises what we currently know about diagnosing and treating this important illness in childhood. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

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. © 2011 Wiley Periodicals, Inc.

Kindler syndrome with severe mucosal involvement in childhood.

PubMed

Krishna, C V; Parmar, N V; Has, C

2014-04-01

Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c.862C>T, p.R288*. The clinical manifestations in patients with KS show significant inter individual variation, even with the same type of mutations and within members of the same family. Our case highlights the role of environmental modifiers in regulating the clinical features of KS. © 2014 British Association of Dermatologists.

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.

The Development of a Clinical Screening Instrument For Tumour Predisposition Syndromes In Childhood Cancer Patients

PubMed Central

Hopman, Saskia M. J.; Merks, Johannes H. M.; de Borgie, Corianne A. J. M.; Aalfs, C. M.; Biesecker, Leslie G.; Cole, Trevor; Eng, Charis; Legius, Eric; Maher, Eamonn R.; van Noesel, Max M.; Verloes, Alain; Viskochil, David H.; Wagner, Anja; Weksberg, Rosanna; Caron, Huib N.; Hennekam, Raoul C. M.

2014-01-01

Background Identification of tumour predisposition syndromes in patients who have cancer in childhood is paramount for optimal care. A screening instrument that can help to identify such patients will facilitate physicians caring for children with cancer. The complete screening instrument should consist of a standardized series of pictures and a screening form for manifestations not visible in the pictures. Here we describe the development of such a screening form based on an international two-stage Delphi process and an initial validation of the complete instrument. Patients and Methods We identified manifestations that may contribute to the diagnosis of a tumour predisposition syndrome through the Winter-Baraitser Dysmorphology Database and the textbook “Gorlin's Syndromes of the Head and Neck”. In a two-round Delphi process, eight international content-experts scored the contribution of each of these manifestations. We performed a clinical validation of the instrument in a selected cohort of ten paediatric cancer patients from another centre. Results In total, 49 manifestations were found to contribute to the diagnosis of a tumour predisposition syndrome and were included in the screening form. The pilot validation study showed that patients suspect for having a tumour predisposition syndrome were recognized. Excellent correlation for indication for referral of a patient between the screening instrument and the reference standard (personal evaluation by an experienced clinical geneticist) was found.). Conclusions The Delphi process performed by international specialists with a function as opinion leaders in their field of expertise has led to a screening form and instrument with which those childhood cancer patients can be identified who may have a tumour predisposition syndrome and thus have an indication to be referred for further genetic analysis. PMID:23855994

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

PubMed

Smith, Jennifer L; Tester, David J; Hall, Allison R; Burgess, Don E; Hsu, Chun-Chun; Claude Elayi, Samy; Anderson, Corey L; January, Craig T; Luo, Jonathan Z; Hartzel, Dustin N; Mirshahi, Uyenlinh L; Murray, Michael F; Mirshahi, Tooraj; Ackerman, Michael J; Delisle, Brian P

2018-05-01

Heterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous KCNH2 variants seemingly associated with sudden infant death syndrome. Genetic testing of 292 sudden infant death syndrome cases identified 9 KCNH2 variants: E90K, R181Q, A190T, G294V, R791W, P967L, R1005W, R1047L, and Q1068R. Previous studies show R181Q-, P967L-, and R1047L-Kv11.1 channels function similar to wild-type Kv11.1 channels, whereas Q1068R-Kv11.1 channels accelerate inactivation gating. We studied the biochemical and biophysical properties for E90K-, G294V-, R791W-, and R1005W-Kv11.1 channels expressed in human embryonic kidney 293 cells; examined the electronic health records of patients who were genotype positive for the sudden infant death syndrome-linked KCNH2 variants; and simulated their functional impact using computational models of the human ventricular action potential. Western blot and voltage-clamping analyses of cells expressing E90K-, G294V-, R791W-, and R1005W-Kv11.1 channels demonstrated these variants express and generate peak Kv11.1 current levels similar to cells expressing wild-type-Kv11.1 channels, but R791W- and R1005W-Kv11.1 channels accelerated deactivation and activation gating, respectively. Electronic health records of patients with the sudden infant death syndrome-linked KCNH2 variants showed that the patients had median heart rate-corrected QT intervals <480 ms and none had been diagnosed with long-QT syndrome or experienced cardiac arrest. Simulating the impact of dysfunctional gating variants predicted that they have little impact on ventricular action potential duration. We conclude that these rare Kv11.1 missense variants are not long-QT syndrome subtype 2-causative variants and therefore do not represent the pathogenic substrate for

High serum serotonin in sudden infant death syndrome.

PubMed

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

2017-07-18

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

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. ...

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

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 ...

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

PubMed

Moreira, Pedro Costa; Santos, Agostinho

2013-01-01

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

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

Sudden infant death syndrome: a cybernetic etiology.

PubMed

ben-Aaron, M

2003-01-01

The brain's processes, by hypothesis, involve information processing by an extraordinarily complex, highly sophisticated, self-organizing cybernetic system embedded in the central nervous system. This cybernetic system generates itself in successive stages. Breathing is, by default, an autonomous function, but breath control is learned. If there is not a smooth transfer of function at the time when a successor system (one that enables autonomous breathing to be overridden by voluntary control) takes over, breathing may cease, without any overt cause being detectable, even with a thorough postmortem examination. If conditions are such that, at that point, the infant's body lacks the strength to resume breathing again under autonomic control, Sudden Infant Death Syndrome may result. The theory explains why infants are at greater risk if they sleep face down.

Clinical aspects of obesity in childhood and adolescence.

PubMed

Kiess, W; Galler, A; Reich, A; Müller, G; Kapellen, T; Deutscher, J; Raile, K; Kratzsch, J

2001-02-01

The level of fatness of a child at which morbidity acutely and/or later in life increases is determined on an acturial basis. Direct measurements of body fat content, e.g. hydrodensitometry, bioimpedance, or DEXA, are useful tools in scientific studies. However, body mass index (BMI) is easy to calculate and is generally accepted now to be used to define obesity in children and adolescents clinically. An increased risk of death from cardiovascular disease in adults has been found in subjects whose BMI had been greater than the 75th percentile as adolescents. Childhood obesity seems to substantially increase the risk of subsequent morbidity whether or not obesity persists into adulthood. The genetic basis of childhood obesity has been elucidated to some extent through the discovery of leptin, the ob gene product, and the increasing knowledge on the role of neuropeptides such as POMC, neuropeptide Y (NPY) and the melanocyte concentrating hormone receptors (for example, MC4R). Environmental/exogenous factors largely contribute to the development of a high degree of body fatness early in life. Twin studies suggest that approximately 50% of the tendency toward obesity is inherited. There are numerous disorders including a number of endocrine disorders (Cushing's syndrome, hypothyroidism, etc.) and genetic syndromes (Prader-Labhard-Willi syndrome, Bardet Biedl syndrome, etc.) that can present with obesity. A simple diagnostic algorithm allows for the differentiation between primary or secondary obesity. Among the most common sequelae of primary childhood obesity are hypertension, dyslipidemia, back pain and psychosocial problems. Therapeutic strategies include psychological and family therapy, lifestyle/behaviour modification and nutrition education. The role of regular exercise and exercise programmes is emphasized. Surgical procedures and drugs used in adult obesity are still not generally recommended in children and adolescents with obesity. As obesity is the most

[Childhood-onset systemic polyarteritis nodosa and systemic lupus erythematosus: an overlap syndrome?

PubMed

Marques, Victor L S; Guariento, Andressa; Simões, Marlise S M; Blay, Gabriela; Lotito, Ana Paola N; Silva, Clovis A

2015-03-04

We described herein a patient who presented an overlap syndrome of childhood-onset systemic polyarteritis nodosa (c-PAN) and childhood-onset systemic lupus erythematosus (c-SLE). A 9-year-old girl presented tender subcutaneous nodules on feet, arterial hypertension, right hemiplegia and dysarthric speech. She was hospitalized due to stroke and left foot drop. Brain computer tomography showed ischemic stroke. Magnetic resonance angiography revealed stenosis in the middle cerebral and internal carotid arteries. Electroneuromyography identified a mononeuropathy of left posterior tibial nerve and she fulfilled the c-PAN validated criteria. She was treated with intravenous methylprednisolone pulse therapy followed by prednisone, that was progressively tapered, six months of intravenous cyclophosphamide and after that she received azathioprine for 19 months. At the age of 14 years and 9 months, she presented malar rash, photosensitivity, edema in lower limbs and arterial hypertension. The proteinuria was 1.7g/day. Antinuclear antibodies (ANA) were 1/1280 (homogeneous nuclear pattern) and anti-dsDNA antibodies were positive. Renal biopsy showed focal proliferative and membranous glomerulonephritis. Therefore, she fulfilled the American College of Rheumatology classification criteria for SLE and she was treated with prednisone, hydroxychloroquine and mycophenolate mofetil. In conclusion, we described herein a possible overlap syndrome of two autoimmune diseases, where c-PAN occurred five years before the c-SLE diagnosis. Copyright © 2015 Elsevier Editora Ltda. All rights reserved.

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…

Features of childhood Sjögren's syndrome in comparison to adult Sjögren's syndrome: considerations in establishing child-specific diagnostic criteria.

PubMed

Yokogawa, Naoto; Lieberman, Scott M; Sherry, David D; Vivino, Frederick B

2016-01-01

To describe the clinical features of childhood Sjögren's syndrome (SS) in comparison to adult SS and to evaluate possible child-specific modifications to existing adult criteria for use in diagnosing childhood SS. We retrospectively identified children (age <18 years) with SS and compared the clinical, laboratory, and histopathological features of these children based on presence or absence of parotitis. We compared these features to adults with SS and evaluated the applicability of existing classification criteria in diagnosing childhood SS. Child-specific modifications to existing criteria were evaluated. Twenty-six children were included in our childhood SS group. Sixteen children had parotitis at or before presentation. Absence of parotitis was associated with greater degree of organ damage based on SS disease damage index. Compared to 413 adult SS patients, childhood SS was more commonly associated with parotitis, positive serologies, neurologic and nephrologic manifestations, and non-specific features (fever, lymphadenopathy) but less commonly associated with dry mouth and dry eyes. Only a minority of these children met previously established criteria for adult SS. Inclusion of child-specific features such as parotitis and the presence of any focal lymphocytic sialadenitis on minor salivary gland biopsy increased the proportion of children meeting these criteria. Childhood SS features may be different than adult SS features necessitating child-specific criteria for better diagnosis of childhood SS, a key step towards better understanding the features, prognosis, and outcomes in this disease.

Sudden Cardiac Death After Non-ST-Segment Elevation Acute Coronary Syndrome.

PubMed

Hess, Paul L; Wojdyla, Daniel M; Al-Khatib, Sana M; Lokhnygina, Yuliya; Wallentin, Lars; Armstrong, Paul W; Roe, Matthew T; Ohman, E Magnus; Harrington, Robert A; Alexander, John H; White, Harvey D; Van de Werf, Frans; Piccini, Jonathan P; Held, Claes; Aylward, Philip E; Moliterno, David J; Mahaffey, Kenneth W; Tricoci, Pierluigi

2016-04-01

In the current therapeutic era, the risk for sudden cardiac death (SCD) after non-ST-segment elevation acute coronary syndrome (NSTE ACS) has not been characterized completely. To determine the cumulative incidence of SCD during long-term follow-up after NSTE ACS, to develop a risk model and risk score for SCD after NSTE ACS, and to assess the association between recurrent events after the initial ACS presentation and the risk for SCD. This pooled cohort analysis merged individual data from 48 286 participants in 4 trials: the Apixaban for Prevention of Acute Ischemic Events 2 (APPRAISE-2), Study of Platelet Inhibition and Patient Outcomes (PLATO), Thrombin Receptor Antagonist for Clinical Event Reduction in Acute Coronary Syndrome (TRACER), and Targeted Platelet Inhibition to Clarify the Optimal Strategy to Medically Manage Acute Coronary Syndromes (TRILOGY ACS) trials. The cumulative incidence of SCD and cardiovascular death was examined according to time after NSTE ACS. Using competing risk and Cox proportional hazards models, clinical factors at baseline and after the index event that were associated with SCD after NSTE ACS were identified. Baseline factors were used to develop a risk model. Data were analyzed from January 2, 2014, to December 11, 2015. Sudden cardiac death. Of the initial 48 286 patients, 37 555 patients were enrolled after NSTE ACS (67.4% men; 32.6% women; median [interquartile range] age, 65 [57-72] years). Among these, 2109 deaths occurred after a median follow-up of 12.1 months. Of 1640 cardiovascular deaths, 513 (31.3%) were SCD. At 6, 18, and 30 months, the cumulative incidence estimates of SCD were 0.79%, 1.65%, and 2.37%, respectively. Reduced left ventricular ejection fraction, older age, diabetes mellitus, lower estimated glomerular filtration rate, higher heart rate, prior myocardial infarction, peripheral artery disease, Asian race, male sex, and high Killip class were significantly associated with SCD. A model developed to

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…

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

PubMed

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

2009-01-30

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

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

USDA-ARS?s Scientific Manuscript database

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...

Death by unnatural causes during childhood and early adulthood in offspring of psychiatric inpatients.

PubMed

Webb, Roger T; Pickles, Andrew R; Appleby, Louis; Mortensen, Preben B; Abel, Kathryn M

2007-03-01

Offspring of psychiatric inpatients are at higher risk of death from all causes, but their cause-specific risks have not been quantified. To investigate cause-specific deaths at 1 to 25 years in offspring of parents previously admitted as psychiatric inpatients. Population-based cohort study. The entire Danish population. All singleton births (N = 1.38 million) from January 1, 1973, to December 31, 1997, with follow-up to January 1, 1999. Linkage to the national psychiatric register identified all previous parental admissions. Deaths from all natural causes and all unnatural causes, specifically, accidents, homicides, suicides, and undetermined causes. The highest observed relative risk (RR) was for homicide in young and older children with affected mothers or fathers. Homicides were between 5 and 10 times more likely to occur in this group, according to child's age and whether the mother or father had been admitted. There was previous parental admission in approximately one third of all child homicides. We found no evidence of increased risk of homicide in exposed young adults, but this group had a 2-fold to 3-fold higher risk of suicide. In almost one fourth of the suicides, there was a history of parental admission. Young adults with 2 previously admitted parents were 6 times more likely to kill themselves than were their peers in the general population. Relative risk of suicide or open-verdict deaths by poisoning were higher than for such deaths occurring by other means. Almost 99% of children studied survived to their mid-20s. However, they were more vulnerable to death from unnatural causes, notably, homicide during childhood and suicide in early adulthood. Further research is needed to establish how parental psychopathology contributes to increased risk of premature death in these offspring.

Seasonal variation of sudden infant death syndrome in Hawaii.

PubMed

Mage, David T

2004-11-01

To test whether the sudden infant death syndrome (SIDS) rate displays the universal winter maximum and summer minimum in Hawaii where there is no appreciable seasonal variation of temperature. The null hypothesis is tested that there is no seasonal variation of necropsied SIDS in Hawaii. The numbers of live births and SIDS cases by month for the years 1979 to 2002 were collected and the monthly SIDS distribution is predicted based on the age at death distribution. The state of Hawaii, located in the midst of the Pacific Ocean, has a semi-tropical climate with temperatures fluctuating diurnally as 25 +/- 5 degrees C throughout the year. Therefore homes are unheated and infants are not excessively swaddled. The Hawaii State Department of Health maintains vital statistics of all infant births and deaths. The results reject the null hypothesis of no seasonal variation of SIDS (p = 0.026). An explanation for the seasonal effect of the winter maximum and summer minimum for Hawaiian SIDS is that it arises from the cycle of the school session and summer vacation periods that represent variable intensity of a possible viral infection vector. SIDS rates in both Hawaii and the United States increase with parity, also indicating a possible role of school age siblings as carriers. The winter peak of the SIDS in Hawaii is support for the hypothesis that a low grade viral infection, insufficient by itself to be a visible cause of death at necropsy, may be implicated as contributing to SIDS in vulnerable infants.

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…

Histopathological spectrum of childhood nephrotic syndrome in Pakistan.

PubMed

Mubarak, Muhammed; Lanewala, Ali; Kazi, Javed Iqbal; Akhter, Fazal; Sher, Atika; Fayyaz, Amir; Bhatti, Sajid

2009-12-01

There is no information in international literature on the pattern of glomerulopathies in children with idiopathic nephrotic syndrome (INS) in Pakistan. We undertook this study to determine the pattern of glomerulopathies based on renal biopsies studied by light (LM), immunofluorescence (IF), and electron microscopy (EM). The study was conducted at Sindh Institute of Urology and Transplantation (SIUT), Karachi over 12 years (1996-2008). All children (syndrome (NS). Our data are in accordance with recent series from around the world with similar biopsy indications. The study defines the true pattern of glomerulopathies in childhood INS for the first time in Pakistan.

Is It Time for a Sudden Infant Death Syndrome (SIDS) Awareness Campaign? Community Stakeholders' Perceptions of SIDS

ERIC Educational Resources Information Center

Gollenberg, Audra; Fendley, Kim

2018-01-01

Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States, and in Virginia. We sought to gauge the perceptions among community-identified stakeholders regarding community resource needs to reduce SIDS. Snowball sampling identified important community stakeholders to be interviewed as key informants. A…

Field evaluation of three sources of genetic resistance to sudden death syndrome of soybean

USDA-ARS?s Scientific Manuscript database

Sudden death syndrome (SDS) of soybean [Glycine max (L.) Merrill] is a disease that causes yield loss in soybean growing regions across the USA and worldwide. While several quantitative trait loci (QTL) for SDS resistance have been mapped, studies to further evaluate these QTL are limited. The objec...

Clinical aspects of obesity in childhood and adolescence--diagnosis, treatment and prevention.

PubMed

Kiess, W; Reich, A; Müller, G; Meyer, K; Galler, A; Bennek, J; Kratzsch, J

2001-05-01

The level of fatness at which morbidity increases is determined on an acturial basis. Direct measurements of body fat content, eg hydrodensitometry, bioimpedance or DEXA, are useful tools in scientific studies. However, body mass index (BMI) is easy to calculate and is frequently used to define obesity clinically. An increased risk of death from cardiovascular disease in adults has been found in subjects whose BMI had been greater than the 75th percentile as adolescents. Childhood obesity seems to increase the risk of subsequent morbidity whether or not obesity persists into adulthood. The genetic basis of childhood obesity has been elucidated to some extent through the discovery of leptin, the ob gene product, and the increasing knowledge on the role of neuropeptides such as POMC, neuropeptide Y (NPY) and the melanocyte concentrating hormone receptors (MC4R). Environmental/exogenous factors contribute to the development of a high degree of body fatness early in life. Twin studies suggest that approximately 50% of the tendency toward obesity is inherited. There are numerous disorders including a number of endocrine disorders (Cushing's syndrome, hypothyroidism, etc) and genetic syndromes (Prader-Labhard-Willi syndrome, Bardet-Biedl syndrome etc) that can present with obesity. A simple diagnostic algorithm allows for the differentiation between primary or secondary obesity. Among the most common sequelae of primary childhood obesity are hypertension, dyslipidemia and psychosocial problems. Therapeutic strategies include psychological and family therapy, lifestyle/behavior modification and nutrition education. The role of regular exercise and exercise programs is emphasized. Surgical procedures and drugs used as treatments for adult obesity are still not recommended for children and adolescents with obesity. As obesity is the most common chronic disorder in the industrialized societies, its impact on individual lives as well as on health economics has to be

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)

Sudden death and paroxysmal autonomic dysfunction in stiff-man syndrome.

PubMed

Mitsumoto, H; Schwartzman, M J; Estes, M L; Chou, S M; La Franchise, E F; De Camilli, P; Solimena, M

1991-04-01

Two women with typical stiff-man syndrome (SMS) developed increasingly frequent attacks of muscle spasms with severe paroxysmal autonomic dysfunctions such as transient hyperpyrexia, diaphoresis, tachypnea, tachycardia, pupillary dilation, and arterial hypertension. Autoantibodies to GABA-ergic neurons were identified in the serum of both patients and in the cerebrospinal fluid of one. Both died suddenly and unexpectedly. General autopsy did not reveal the cause of death. Neuropathological studies revealed perivascular gliosis in the spinal cord and brain stem of one patient and lymphocytic perivascular infiltration in the spinal cord, brain stem, and basal ganglia of the other. The occurrence of a chronic inflammatory reaction in one of the two patients supports the idea that an autoimmune disease against GABA-ergic neurons may be involved in SMS. A review of the literature indicates that functional impairment in SMS is severe and prognosis is unpredictable because of the potential for sudden and unexpected death. Both muscular abnormalities and autonomic dysfunctions may result from autoimmunity directed against GABA-ergic neurons.

Adiposity and Cardiovascular Risk Factor Variables in Childhood Are Associated With Premature Death From Coronary Heart Disease in Adults: The Bogalusa Heart Study.

PubMed

Berenson, Gerald S; Srinivasan, Sathanur R; Xu, Ji Hua; Chen, Wei

2016-11-01

More than 600 deaths of all causes have been documented over the 40-year duration of the Bogalusa Heart Study. Of these, 97 deaths have been related to cardiovascular events, based on obituaries published in local newspapers, death certificates obtained from the State Health Department, information from the coroner and word of mouth by nursing staff from the community. This study was a retrospective longitudinal cohort with several observations of each subject. It consisted of 6 cross-sectional surveys of children aged 5-7 years, conducted between 1973 and 1988, and 4 cross-sectional surveys of previously examined subjects as young adults extending into middle age, conducted between 1988 and 2010. Excluding pulmonary, congenital and noncoronary cardiovascular diseases, 46 deaths (average age at death = 44.7 years, range: 31-55) were considered to have been related to coronary artery disease, that is, myocardial infarction. Cardiovascular risk factor observations, gathered from multiple surveys (average of 4.4 surveys, range: 1-14) since childhood, indicated that body fatness and elevated blood pressure beginning in childhood were more common in subjects who later died of coronary artery disease than in living subjects. The present findings emphasize that sub-clinical cardiovascular disease begins early in life and that early prevention is vital. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

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

PubMed

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

2012-06-10

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

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…

Pearson syndrome in the neonatal period: two case reports and review of the literature.

PubMed

Manea, Elena Maria; Leverger, Guy; Bellmann, Francoise; Stanescu, Popp Alina; Mircea, Adam; Lèbre, Anne-Sophie; Rötig, Agnes; Munnich, Arnold

2009-12-01

Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical presentation of the disease in the neonatal period, which is often overlooked and underdiagnosed.

Trend (1999-2009) in U.S. death rates from myelodysplastic syndromes: utility of multiple causes of death in surveillance.

PubMed

Polednak, Anthony P

2013-10-01

For myelodysplastic syndromes (MDS) (formerly known as preleukemia), a diverse group of myeloid neoplasms usually involving anemia in elderly persons, trends in U.S. death rates apparently have not been reported. Trends in annual age-standardized rates per 100,000 from 1999 to 2009 were examined for MDS using multiple causes vs. underlying cause alone, coded on death certificates for U.S. residents. The death rate (all ages combined) for MDS increased from 1999 to 2009, from 1.62 to 1.84 using underlying cause alone and from 2.89 to 3.27 using multiple causes. Rates using multiple causes were about 80% higher than those based on underlying cause alone. From 2001 to 2004 the rate for MDS using underlying cause alone (but not using multiple causes) declined, accompanied by an increase in the rate for deaths from leukemia as underlying cause with mention of MDS; this trend coincided with the advent of the 2001 World Health Organization's reclassification of certain MDS as leukemia. The MDS rate for age 65+ years increased after 2005, whereas the rate for age 25-64 years was low but declined from 2001 to 2003 and then stabilized. For deaths with MDS coded as other than underlying cause, rates did not decline for deaths from each of the two most common causes (i.e., cardiovascular diseases and leukemia). Evidence for decreases in MDS-related mortality rates was limited; the increase at age 65+ years is consistent with increases in incidence rates reported from cancer registries. Using multiple causes of death vs. only the underlying cause results in substantially higher MDS-related death rates, shows the impact of changes in the classification of myeloid neoplasms and emphasizes the importance of reducing cardiovascular disease mortality in MDS patients. Copyright © 2013 Elsevier Ltd. All rights reserved.

Stress reactivity in childhood functional abdominal pain or irritable bowel syndrome.

PubMed

Gulewitsch, M D; Weimer, K; Enck, P; Schwille-Kiuntke, J; Hautzinger, M; Schlarb, A A

2017-01-01

Frequent abdominal pain (AP) in childhood has been shown to be associated with elevated experience of stress and with deficits in stress coping, but psychophysiological stress reactivity has been studied rarely. We examined whether children with frequent AP show altered reactions of the parasympathetic nervous system and the hypothalamic-pituitary-adrenal (HPA) axis during and following an afternoon laboratory social stress task in comparison to healthy children and children with anxiety disorders. Twenty-four children with frequent AP (18 with functional AP and six with irritable bowel syndrome; M = 9.9 years), and 24 healthy controls underwent stressful free speech and arithmetic tasks. Twelve children with anxiety disorders served as second comparison sample. Groups were compared regarding parasympathetic reaction and saliva cortisol concentration. We found no differences in parasympathetic withdrawal between the groups. Concerning the HPA axis, we detected an attenuated cortisol reactivity in children with AP compared to both other groups. This study provides preliminary evidence that childhood AP is not associated with altered parasympathetic withdrawal during stress. It seems to be related to a down-regulated reactivity of the HPA axis. This pattern was ascertained in comparison to healthy children and also in comparison to children with anxiety disorders. Childhood abdominal pain could be related to down-regulated HPA axis reactivity to stress but not to altered parasympathetic reaction. Children with abdominal pain and children with anxiety disorders exhibit a divergent stress-related HPA axis reaction. © 2016 European Pain Federation - EFIC®.

Metabolic syndrome in long-term survivors of childhood acute leukemia treated without hematopoietic stem cell transplantation: an L.E.A. study.

PubMed

Saultier, Paul; Auquier, Pascal; Bertrand, Yves; Vercasson, Camille; Oudin, Claire; Contet, Audrey; Plantaz, Dominique; Poirée, Marilyne; Ducassou, Stéphane; Kanold, Justyna; Tabone, Marie-Dominique; Dalle, Jean-Hugues; Lutz, Patrick; Gandemer, Virginie; Sirvent, Nicolas; Thouvenin, Sandrine; Berbis, Julie; Chambost, Hervé; Baruchel, André; Leverger, Guy; Michel, Gérard

2016-12-01

Cardiovascular conditions are serious long-term complications of childhood acute leukemia. However, few studies have investigated the risk of metabolic syndrome, a known predictor of cardiovascular disease, in patients treated without hematopoietic stem cell transplantation. We describe the overall and age-specific prevalence, and the risk factors for metabolic syndrome and its components in the L.E.A. (Leucémie de l'Enfant et de l'Adolescent) French cohort of childhood acute leukemia survivors treated without hematopoietic stem cell transplantation. The study included 650 adult patients (mean age at evaluation: 24.2 years; mean follow-up after leukemia diagnosis: 16.0 years). The prevalence of metabolic syndrome was 6.9% (95% CI 5.1-9.2). The age-specific cumulative prevalence at 20, 25, 30 and 35 years of age was 1.3%, 6.1%, 10.8% and 22.4%, respectively. The prevalence of decreased high-density lipoprotein cholesterol, increased triglycerides, increased fasting glucose, increased blood pressure and increased abdominal circumference was 26.8%, 11.7%, 5.8%, 36.7% and 16.7%, respectively. Risk factors significantly associated with metabolic syndrome in the multivariate analysis were male sex (OR 2.64; 95% CI 1.32-5.29), age at last evaluation (OR 1.10; 95% CI 1.04-1.17) and body mass index at diagnosis (OR 1.15; 95% CI 1.01-1.32). The cumulative steroid dose was not a significant risk factor. Irradiated and non-irradiated patients exhibited different patterns of metabolic abnormalities, with more frequent abdominal obesity in irradiated patients and more frequent hypertension in non-irradiated patients. Survivors of childhood acute leukemia are at risk of metabolic syndrome, even when treated without hematopoietic stem cell transplantation or central nervous system irradiation. A preventive approach with regular screening for cardiovascular risk factors is recommended. clinicaltrials.gov identifier:01756599. Copyright© Ferrata Storti Foundation.

Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report.

PubMed

Raza, Farhan; Sultan, Mubashar; Qamar, Khola; Jawad, Ali; Jawa, Ali

2012-10-02

Gitelman syndrome is an inherited autosomal recessive renal salt-wasting disorder. It presents with variable clinical symptoms including muscle weakness and fatigue, and the diagnosis is based on metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. It is usually diagnosed incidentally in early adulthood. There are rare cases of Gitelman syndrome presenting in early childhood; however, to the best of our knowledge it has not previously been associated with delayed puberty. A 17-year-old South Asian man with recurrent episodes of generalized muscle weakness, fatigue and cramps from the age of two years was admitted for further workup. Before the age of 12 years, the episodes had been mild, but they then got progressively worse. Other symptoms include polyuria, polydipsia, nocturia, paresthesia and occasional watery diarrhea. He also had a history of short stature, poor weight gain and delayed developmental landmarks. His family history was unremarkable except for the consanguineous marriage of his parents. An examination revealed a thin and lean man with blood pressure of 95/60mmHg. His height and weight were below the third percentile and his sexual development was at Tanner Stage II. Laboratory work revealed serum sodium of 124mmol/L, potassium 2.4mmol/L, calcium 6.5mmol/L and magnesium of 1.2mg/dL. His testosterone level was low (0.85ng/mL, normal for his age 2.67 to 10.12ng/mL) with normal levels of luteinizing hormone and follicle-stimulating hormone. The sex hormone findings were attributed to delayed puberty. A 24-hour urinary analysis revealed decreased excretion of calcium (25.9mg/24 hours). Based on the findings of hypokalemic metabolic alkalosis without hypertension, severe hypomagnesemia and hypocalciuria, a diagnosis of Gitelman syndrome was made. Treatment was started with oral supplementation of potassium, magnesium and calcium along with spironolactone and liberal salt intake. Diagnosis of Gitelman syndrome is usually made incidentally

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.

Comparison of childhood myelodysplastic syndrome, AML FAB M6 or M7, CCG 2891: report from the Children's Oncology Group.

PubMed

Barnard, Dorothy R; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly; Woods, William G

2007-07-01

Myelodysplastic syndromes (MDS), acute erythroleukemia (FAB M6), and acute megakaryocytic leukemia (FAB M7) have overlapping features. Children without Down syndrome or acute promyelocytic leukemia who were newly diagnosed with primary myelodysplastic syndrome or acute myeloid leukemia (AML) M6 or M7 were compared to children with de novo AML M0-M5. All children were entered on the Children's Cancer Group therapeutic research study CCG 2891. The presentation and outcomes of the 132 children diagnosed with MDS (60 children), AML FAB M6 (19 children), or AML FAB M7 (53 children) were similar. Children with AML FAB M7 were diagnosed at a significantly younger age (P = 0.001). Children with MDS, M6, or M7 had significantly lower white blood cell (WBC) counts (P = 0.001), lower peripheral blast counts (P < 0.001), and an increased frequency of -7/7q- (P = 0.003) at presentation. All three groups had significantly inferior overall survival (OS) (P < 0.001) and event free survival (P < 0.001) compared with the 748 children diagnosed with AML FAB M0-M5 when assessed from entry on study. This poor survival was largely attributable to induction death and failure. However, when assessed from successful completion of induction therapy, the 5-year OS (P = 0.090)(49.1 vs. 56.9%) and disease-free survival (DFS) (P = 0.113)(38.0 vs. 46.3%) therapy were not significantly different from other children with AML. Childhood AML FAB M6 and AML M7 resemble MDS in presentation, poor induction success rates, and outcomes.

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

PubMed

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

2017-01-01

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

Drug-induced life-threatening arrhythmias and sudden cardiac death: A clinical perspective of long QT, short QT and Brugada syndromes.

PubMed

Ramalho, Diogo; Freitas, João

2018-05-01

Sudden cardiac death is a major public health challenge, which can be caused by genetic or acquired structural or electrophysiological abnormalities. These abnormalities include hereditary channelopathies: long QT, short QT and Brugada syndromes. These syndromes are a notable concern, particularly in young people, due to their high propensity for severe ventricular arrhythmias and sudden cardiac death. Current evidence suggests the involvement of an increasing number of drugs in acquired forms of long QT and Brugada syndromes. However, drug-induced short QT syndrome is still a rarely reported condition. Therefore, there has been speculation on its clinical significance, since few fatal arrhythmias and sudden cardiac death cases have been described so far. Drug-induced proarrhythmia is a growing challenge for physicians, regulatory agencies and the pharmaceutical industry. Physicians should weigh the risks of potentially fatal outcomes against the therapeutic benefits, when making decisions about drug prescriptions. Growing concerns about its safety and the need for more accurate predictive models for drug-induced fatal outcomes justify further research in these fields. The aim of this article is to comprehensively and critically review the recently published evidence with regard to drug-induced life-threatening arrhythmias and sudden cardiac death. This article will take into account the provision of data to physicians that are useful in the identification of the culprit drugs, and thus, contribute to the prompt recognition and management of these serious clinical conditions. Copyright © 2018 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

Global Burden of Childhood Tuberculosis.

PubMed

Jenkins, Helen E

2016-01-01

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

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

ClinicalTrials.gov

2017-09-01

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

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

PubMed

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

2011-01-01

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

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

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).…

Interaction between bedding and sleeping position in the sudden infant death syndrome: a population based case-control study.

PubMed Central

Fleming, P J; Gilbert, R; Azaz, Y; Berry, P J; Rudd, P T; Stewart, A; Hall, E

1990-01-01

OBJECTIVE--To determine the relation between sleeping position and quantity of bedding and the risk of sudden unexpected infant death. DESIGN--A study of all infants dying suddenly and unexpectedly and of two controls matched for age and date with each index case. The parents of control infants were interviewed within 72 hours of the index infant's death. Information was collected on bedding, sleeping position, heating, and recent signs of illness for index and control infants. SETTING--A defined geographical area comprising most of the county of Avon and part of Somerset. SUBJECTS--72 Infants who had died suddenly and unexpectedly (of whom 67 had died from the sudden infant death syndrome) and 144 control infants. RESULTS--Compared with the control infants the infants who had died from the sudden infant death syndrome were more likely to have been sleeping prone (relative risk 8.8; 95% confidence interval 7.0 to 11.0; p less than 0.001), to have been more heavily wrapped (relative risk 1.14 per tog above 8 tog; 1.03 to 1.28; p less than 0.05), and to have had the heating on all night (relative risk 2.7; 1.4 to 5.2; p less than 0.01). These differences were less pronounced in the younger infants (less than 70 days) than the older ones. The risk of sudden unexpected death among infants older than 70 days, nursed prone, and with clothing and bedding of total thermal resistance greater than 10 tog was increased by factors of 15.1 (2.6 to 89.6) and 25.2 (3.7 to 169.0) respectively compared with the risk in infants of the same age nursed supine or on their side and under less than 6 tog of bedding. CONCLUSIONS--Overheating and the prone position are independently associated with an increased risk of sudden unexpected infant death, particularly in infants aged more than 70 days. Educating parents about appropriate thermal care and sleeping position of infants may help to reduce the incidence of the sudden infant death syndrome. PMID:2390588

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

PubMed

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

2014-12-01

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

Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.

PubMed

Tanakaya, Kohji; Yamaguchi, Tatsuro; Ishikawa, Hideki; Hinoi, Takao; Furukawa, Yoichi; Hirata, Keiji; Saida, Yoshihisa; Shimokawa, Mototsugu; Arai, Masami; Matsubara, Nagahide; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

2016-04-01

To elucidate the causes of cancer death in Japanese families with Lynch syndrome (LS). The distributions of cancer deaths in 485 individuals from 67 families with LS (35, 30, and two families with MutL homologue 1 (MLH1), MSH2, and MSH6 gene mutations, respectively), obtained from the Registry of the Japanese Society for Cancer of the Colon and Rectum were analyzed. Among 98 cancer deaths of first-degree relatives of unknown mutation status, 53%, 19%, 13% (among females), 7% (among females) and 5% were due to colorectal, gastric, uterine, ovarian, and hepatobiliary cancer, respectively. The proportion of deaths from extra-colonic cancer was significantly higher in families with MSH2 mutation than in those with MLH1 mutation (p=0.003). In addition to colonic and uterine cancer, management and surveillance targeting gastric, ovarian and hepatobiliary cancer are considered important for Japanese families with LS. Extra-colonic cancer in families with MSH2 mutation might require for more intensive surveillance. Copyright© 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

Misclassification of childhood homicide on death certificates.

PubMed Central

Lapidus, G D; Gregorio, D I; Hansen, H

1990-01-01

Suspect classification of homicide deaths of Connecticut residents under 20 years of age was noted for 29 percent of cases examined. Misclassification was attributed to incomplete or erroneous information recorded on the death certificates, rather than errors in the designation of ICD-9 homicide codes. The results have important implications in the interpretation of vital statistics when homicide is listed as the cause of death and underscore the value of record linkage systems. PMID:2297072

Tourette syndrome and other tic disorders in childhood, adolescence and adulthood.

PubMed

Ludolph, Andrea G; Roessner, Veit; Münchau, Alexander; Müller-Vahl, Kirsten

2012-11-01

Tourette syndrome is a combined motor and vocal tic disorder that begins in childhood and takes a chronic course. It arises in about 1% of all children, with highly varying severity. Transient and usually mild tics are seen in as many as 15% of all children in elementary school. The diagnosis is often delayed by several years. We selectively reviewed the pertinent literature, including the guidelines of the European Society for the Study of Tourette Syndrome for the diagnosis and treatment of tic disorders. Tic disorders usually take a benign course, with spontaneous improvement in adolescence in about 90% of patients. Psychoeducation is the basis of treatment in each case and almost always brings marked emotional relief. Specific treatment is needed only for more severe tics and those that cause evident psychosocial impairment. 80-90% of patients with Tourette syndrome have comorbidities (attention deficit-hyperactivity disorder, obsessive-compulsive disorder, depression, anxiety, emotional dysregulation, autoaggression), which often impair their quality of life more than the tics do and therefore become the main target of treatment. There is little evidence for the efficacy of treatment for tics. Small-scale controlled studies with a brief follow-up period have been carried out for some neuroleptic drugs. Behavior therapy should be tried before drug treatment. A further option for very severely affected adults is deep brain stimulation. Because of the low level of the available evidence, no definitive recommendations can be made for the treatment of tics.

Extending Prednisolone Treatment Does Not Reduce Relapses in Childhood Nephrotic Syndrome

PubMed Central

Kist-van Holthe, Joana E.; van Rijswijk, Nienske; de Mos, Nienke I.; Hop, Wim C.J.; Wetzels, Jack F.M.; van der Heijden, Albert J.; Nauta, Jeroen

2012-01-01

Prolonged prednisolone treatment for the initial episode of childhood nephrotic syndrome may reduce relapse rate, but whether this results from the increased duration of treatment or a higher cumulative dose remains unclear. We conducted a randomized, double-blind, placebo-controlled trial in 69 hospitals in The Netherlands. We randomly assigned 150 children (9 months to 17 years) presenting with nephrotic syndrome to either 3 months of prednisolone followed by 3 months of placebo (n=74) or 6 months of prednisolone (n=76), and median follow-up was 47 months. Both groups received equal cumulative doses of prednisolone (approximately 3360 mg/m2). Among the 126 children who started trial medication, relapses occurred in 48 (77%) of 62 patients who received 3 months of prednisolone and 51 (80%) of 64 patients who received 6 months of prednisolone. Frequent relapses, according to international criteria, occurred with similar frequency between groups as well (45% versus 50%). In addition, there were no statistically significant differences between groups with respect to the eventual initiation of prednisolone maintenance and/or other immunosuppressive therapy (50% versus 59%), steroid dependence, or adverse effects. In conclusion, in this trial, extending initial prednisolone treatment from 3 to 6 months without increasing cumulative dose did not benefit clinical outcome in children with nephrotic syndrome. Previous findings indicating that prolonged treatment regimens reduce relapses most likely resulted from increased cumulative dose rather than the treatment duration. PMID:23274956

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

PubMed

Lahrouchi, Najim; Raju, Hariharan; Lodder, Elisabeth M; Papatheodorou, Efstathios; Ware, James S; Papadakis, Michael; Tadros, Rafik; Cole, Della; Skinner, Jonathan R; Crawford, Jackie; Love, Donald R; Pua, Chee J; Soh, Bee Y; Bhalshankar, Jaydutt D; Govind, Risha; Tfelt-Hansen, Jacob; Winkel, Bo G; van der Werf, Christian; Wijeyeratne, Yanushi D; Mellor, Greg; Till, Jan; Cohen, Marta C; Tome-Esteban, Maria; Sharma, Sanjay; Wilde, Arthur A M; Cook, Stuart A; Bezzina, Connie R; Sheppard, Mary N; Behr, Elijah R

2017-05-02

Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. This study investigated the clinical utility and combined yield of post-mortem genetic testing (molecular autopsy) in cases of SADS and comprehensive clinical evaluation of surviving relatives. We evaluated 302 expertly validated SADS cases with suitable DNA (median age: 24 years; 65% males) who underwent next-generation sequencing using an extended panel of 77 primary electrical disorder and cardiomyopathy genes. Pathogenic and likely pathogenic variants were classified using American College of Medical Genetics (ACMG) consensus guidelines. The yield of combined molecular autopsy and clinical evaluation in 82 surviving families was evaluated. A gene-level rare variant association analysis was conducted in SADS cases versus controls. A clinically actionable pathogenic or likely pathogenic variant was identified in 40 of 302 cases (13%). The main etiologies established were catecholaminergic polymorphic ventricular tachycardia and long QT syndrome (17 [6%] and 11 [4%], respectively). Gene-based rare variants association analysis showed enrichment of rare predicted deleterious variants in RYR2 (p = 5 × 10 -5 ). Combining molecular autopsy with clinical evaluation in surviving families increased diagnostic yield from 26% to 39%. Molecular autopsy for electrical disorder and cardiomyopathy genes, using ACMG guidelines for variant classification, identified a modest but realistic yield in SADS. Our data highlighted the predominant role of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome, especially the RYR2 gene, as well as the minimal yield from other genes. Furthermore, we showed the enhanced utility of combined clinical and genetic evaluation. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

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

PubMed

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

2015-11-24

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. 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. 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. © The Author(s) 2015. Published by Oxford University Press on behalf of the Foundation for Evolution, Medicine, and Public Health.

The transition between the phenotypes of Prader-Willi syndrome during infancy and early childhood.

PubMed

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

2010-06-01

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 about the transition between phenotypes. This study investigates the nature of the change in infancy and childhood PWS. Forty-six children (22 females, 24 males; mean age 2 y 9 mo, SD 18.9 mo; range 7 mo-5 y) with genetically confirmed PWS participated. Information was obtained on childhood height and weight, and eating behaviour from case notes and by parental interview. Weight standard deviation scores (SDS) started to exceed height by the end of the first year. Height SDS appeared to fall from near normal at birth until stabilizing below normal around 2 years. Half of the children whose body mass index (BMI) was higher than normal at interview had food interests greater than that of their peers, and the age at which increased age-appropriate eating was first noted was later than the increase of BMI SDS. Obesity may develop before the increased interest in food, suggesting underlying physiological factors independent of appetite control may be important.

Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

PubMed

Ramond, Francis; Duband, Sébastien; Croisille, Pierre; Cavé, Hélène; Teyssier, Georges; Adouard, Véronique; Touraine, Renaud

2017-06-01

Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Family member deaths across adulthood predict Alzheimer's disease risk: The Cache County Study.

PubMed

Norton, Maria C; Fauth, Elizabeth; Clark, Christine J; Hatch, Dan; Greene, Daylee; Pfister, Roxane; Tschanz, JoAnn T; Smith, Ken R

2016-03-01

Parental death during childhood, and offspring and spouse death during adulthood have individually been associated with faster cognitive decline and higher Alzheimer's disease (AD) risk in late life. However, the cumulative effect of childhood and adulthood family deaths on AD risk among different age cohorts has not been studied. To examine these associations, this prospective cohort study uses a population-based sample of 4545 initially non-demented participants (56.7% female; age M = 75.0/SD = 6.9 years) observed at four triennial waves, linked with objective Utah Population Database data on cumulative mother, father, sibling, spouse, and offspring death experienced during childhood and adulthood. Cox regression modeled survival time from baseline interview to AD onset, as a function of family deaths during childhood or adulthood, among different age groups, along with gender and presence of ε4 allele at apolipoprotein E (APOE) polymorphic genetic locus. Age group significantly moderated the relationship between family death and AD; among persons aged 65-69 years at baseline (children of the Great Depression), those exposed to 3-4 deaths and 5+ deaths during adulthood exhibited a doubling of AD risk (adjusted hazard ratio, aHR = 2.25, p = .038, and aHR = 2.72, p = .029), while among persons aged 80 years and older, those exposed to 3-4 deaths during adulthood exhibited lower AD risk (HR = 0.539, p = 0.014). In a combined model of childhood and adulthood deaths, these findings persisted. Results suggest a cohort effect in the link between family member deaths during adulthood and AD risk later in life. Copyright © 2015 John Wiley & Sons, Ltd.

Intellectual development in Noonan syndrome: a longitudinal study.

PubMed

Roelofs, Renée L; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P C; Egger, Jos I M

2016-07-01

Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome. Sixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores. Compared with childhood scores, adult full-scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index. Childhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.

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.

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

PubMed Central

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

2016-01-01

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

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

USDA-ARS?s Scientific Manuscript database

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...

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…

Non-syndromic posterior lenticonus a cause of childhood cataract: evidence for X-linked inheritance.

PubMed

Russell-Eggitt, I M

2000-12-01

When an X-linked pedigree of posterior lenticonus with cataract was identified further evidence for X-linked inheritance of this condition was sought. Forty-three cases of posterior lenticonus were identified from a database of 354 children with cataract. Two children with the X-linked syndromes of Lowe and Nance-Horan and 3 children with Fanconi syndrome have been excluded from further analysis. None of the children was deaf. None of the non-syndromic cases had microcornea. There were 38 cases of non-syndromic posterior lenticonus (approximately 11%). There were 15 children from 13 pedigrees and 23 apparently sporadic cases. Of the 106 cases on the database with unilateral cataract 15 had posterior lenticonus (approximately 14%). Eleven of 13 pedigrees were compatible with X-linked inheritance or autosomal dominant inheritance with variable expression. However, in 2 pedigrees there was father to son transmission. Posterior lenticonus is a common cause of unilateral infantile cataract, but is thought to be a rare cause of bilateral cataracts. This study suggests that posterior lenticonus is responsible for a significant proportion of childhood cataracts (approximately 14% of unilateral and approximately 9% of bilateral cases). Posterior lenticonus is generally thought to occur as a sporadic condition. This study demonstrates that there is a family history of early-onset cataract in a significant number of bilateral cases (approximately 58%).

Children with Usher syndrome: mental and behavioral disorders

PubMed Central

2012-01-01

Background Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders. PMID:22449032

Children with Usher syndrome: mental and behavioral disorders.

PubMed

Dammeyer, Jesper

2012-03-27

Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.

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…

Childhood cognitive development in 22q11.2 deletion syndrome: case-control study.

PubMed

Chawner, Samuel J R A; Doherty, Joanne L; Moss, Hayley; Niarchou, Maria; Walters, James T R; Owen, Michael J; van den Bree, Marianne B M

2017-10-01

Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS ( n = 75, mean age time 1 ( T 1 ) 9.9, time 2 ( T 2 ) 12.5) and control siblings ( n = 33, mean age T 1 10.6, T 2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function for identifying individual children with 22q11.2DS at high risk of developing schizophrenia. © The Royal College of Psychiatrists 2017.

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

PubMed Central

Antzelevitch, Charles

2007-01-01

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

Neuromyelitis optica in pregnancy complicated by posterior reversible encephalopathy syndrome, eclampsia and fetal death.

PubMed

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

2015-03-01

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.

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

The extent and distribution of inequalities in childhood mortality by cause of death according to parental socioeconomic positions: a birth cohort study in South Korea.

PubMed

Kim, Jongoh; Son, Mia; Kawachi, Ichiro; Oh, Juhwan

2009-10-01

It has been shown that childhood mortality is affected by parental socioeconomic positions; in this article, we investigate the extent and distribution of inequalities across major causes of childhood death. We built a retrospective birth cohort using individually linked national birth and death records in South Korea. 1,329,540 children were followed up to exact age eight from 1995 to 1996 and total observed person-years were 10,594,168.18. Causes of death were identified from death records while parental education, occupation and birth characteristics were identified from birth records. Survival analysis was performed according to parental socioeconomic positions. Cox proportional hazard analysis was done according to parental education and occupation with adjustment of birth characteristics such as sex, parental age, gestational age, birth weight, multiple birth, the number of total births, and previous death of children. Cumulative incidence of mortality by age was obtained through a competing-risk method in each cause according to maternal education. From these results, distribution of inequalities across major causes of death was calculated. In total, 7018 deaths occurred during the eight years and mortality rate was 66.24 per 100,000 person-years. External cause was the most common cause of death followed by congenital malformations, nervous system diseases, perinatal diseases, cancer, respiratory, cardiovascular, infectious and gastrointestinal diseases. For all-cause mortality, hazard ratios (HR) were 1.98 (95% CI: 1.83-2.13) for paternal education, 1.90 (1.75-2.07) for maternal education, 1.40 (1.33-1.47) for paternal occupation and 2.33(1.98-2.73) for maternal occupation (between middle school graduation or lower and university or more for education, between manual and non-manual for occupation). Mortality differentials were found in every cause of death. External cause, respiratory, cardiovascular and infectious diseases showed larger HR than all

How Do Families of Children with Down Syndrome Perceive Speech Intelligibility in Turkey?

PubMed Central

Toğram, Bülent

2015-01-01

Childhood verbal apraxia has not been identified or treated sufficiently in children with Down syndrome but recent research has documented that symptoms of childhood verbal apraxia can be found in children with Down syndrome. But, it is not routinely diagnosed in this population. There is neither an assessment tool in Turkish nor any research on childhood verbal apraxia although there is a demand not only for children with Down syndrome but also for normally developing children. The study examined if it was possible to determine oral-motor difficulties and childhood verbal apraxia features in children with Down syndrome through a survey. The survey was a parental report measure. There were 329 surveys received. Results indicated that only 5.6% of children with Down syndrome were diagnosed with apraxia, even though many of the subject children displayed clinical features of childhood verbal apraxia. The most frequently reported symptoms of childhood verbal apraxia in literature were displayed by the children with Down syndrome in the study. Parents could identify childhood verbal apraxia symptoms using parent survey. This finding suggests that the survey can be developed that could serve as a screening tool for a possible childhood verbal apraxia diagnosis in Turkey. PMID:25977925

A Pro-Inflammatory Role for Nuclear Factor Kappa B in Childhood Obstructive Sleep Apnea Syndrome

PubMed Central

Israel, Lee P.; Benharoch, Daniel; Gopas, Jacob; Goldbart, Aviv D.

2013-01-01

Study Objectives: Childhood obstructive sleep apnea syndrome (OSAS) is associated with an elevation of inflammatory markers such as C-reactive protein (CRP) that correlates with specific morbidities and subsides following intervention. In adults, OSAS is associated with activation of the transcription factor nuclear factor kappa B (NF-kB). We explored the mechanisms underlying NF-kB activation, based on the hypothesis that specific NF-kB signaling is activated in children with OSAS. Design: Adenoid and tonsillar tissues from children with OSAS and matched controls were immunostained against NF-kB classical (p65 and p50) and alternative (RelB and p52) pathway subunits, and NF-kB-dependent cytokines: interleukin (IL)- 1α, IL-1β, tumor necrosis factor-α, and IL-8). Serum CRP levels were measured in all subjects. NF-kB induction was evaluated by a luciferase-NF-kB reporter assay in L428 cells constitutively expressing NF-kB and in Jurkat cells with inducible NF-kB expression. p65 translocation to the nucleus, reflecting NF-kB activation, was measured in cells expressing fluorescent NF-kB-p65-GFP (green fluorescent protein). Setting: Sleep research laboratory. Patients or Participants: Twenty-five children with OSAS and 24 without OSAS. Interventions: N/A. Measurements and Results: Higher expression of IL-1α and classical NF-kB subunits p65 and p50 was observed in adenoids and tonsils of children with OSAS. Patient serum induced NF-kB activity, as measured by a luciferase-NF-kB reporter assay and by induction of p65 nuclear translocation in cells permanently transfected with GFP-p65 plasmid. IL-1β showed increased epithelial expression in OSAS tissues. Conclusions: Nuclear factor kappa B is locally and systemically activated in children with obstructive sleep apnea syndrome. This observation may motivate the search for new anti-inflammatory strategies for controlling nuclear factor kappa B activation in obstructive sleep apnea syndrome. Citation: Israel LP

Noninvasive risk stratification for sudden death in asymptomatic patients with Wolff-Parkinson-White syndrome.

PubMed

Novella, John; DeBiasi, Ralph M; Coplan, Neil L; Suri, Ranji; Keller, Seth

2014-01-01

Sudden cardiac death (SCD) as the first clinical manifestation of Wolff-Parkinson-White (WPW) syndrome is a well-documented, although rare occurrence. The incidence of SCD in patients with WPW ranges from 0% to 0.39% annually. Controversy exists regarding risk stratification for patients with preexcitation on surface electrocardiogram (ECG), particularly in those who are asymptomatic. This article focuses on the role of risk stratification using exercise and pharmacologic testing in patients with WPW pattern on ECG.

[Efficacy of highly active antiretroviral therapy for childhood acquired immunodeficiency syndrome].

PubMed

Hao, Jin-Li; Wang, Bao-Jin; Baptiste, Jean

2010-11-01

To investigate the efficacy of highly active antiretroviral therapy (HAART) for acquired immunodeficiency syndrome (AIDS) in children. The clinical data of 38 children (2-15 years old) with AIDS from a region of Rwanda and who had received HAART were retrospectively reviewed. All of 13 children with anemia showed improved anemia symptoms after HAART. The hemoglobin contents returned to normal levels in 12 children with mild or moderate anemia. CD4 T lymphocytes increased by 24%-1 181% in 5 out of 6 cases with severe immunodeficiency after HAART. During the HAART, the weight gain averaged 2.3 kg yearly. The growth and development in 5 out of 8 children with delayed growth restored the levels of normal children of the same age after HAART. HAART can improve the health status in children with AIDS and is effective for childhood AIDS.

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

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

PubMed

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

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

Victims of Chinese famine in early life have increased risk of metabolic syndrome in adulthood.

PubMed

Yu, Caizheng; Wang, Jing; Wang, Fei; Han, Xu; Hu, Hua; Yuan, Jing; Miao, Xiaoping; Yao, Ping; Wei, Sheng; Wang, Youjie; Liang, Yuan; Zhang, Xiaomin; Guo, Huan; Pan, An; Zheng, Dan; Tang, Yuhan; Yang, Handong; Wu, Tangchun; He, Meian

2018-02-05

To investigate the association of exposure to the Chinese famine during early life with metabolic syndrome risk in adults. There were 7,915 participants from Dongfeng-Tongji cohort were included in the present study. Participants were classified as non-exposed group, fetal exposed group, early childhood-, mid childhood-, and late childhood-exposed groups, respectively. Metabolic syndrome was defined according to International Diabetes Foundation criteria (2005). Logistic regression model was used to explore the association between famine exposure in early life and metabolic syndrome risk in adults. The metabolic syndrome prevalence in non-, fetal-, early childhood-, mid childhood-, and late childhood- exposed groups were 25.2%, 26.9%, 30.3%, 32.7%, and 32.7%, respectively. Compared with non-exposed group, participants exposed to famine in the fetal (0.96, 95% CI: 0.77-1.20), early childhood (1.24, 95% CI: 1.01-1.52), mid childhood (1.39, 95% CI: 1.13-1.72), and late childhood (1.33, 95% CI: 1.08-1.63) had higher metabolic syndrome prevalence risk in adults after adjustment for potential confounders (P for trend < 0.0001). In gender-specific analyses, women exposed to famine in early childhood (1.26, 95% CI: 1.02-1.56), mid childhood (1.43, 95% CI: 1.14-1.78), and late childhood (1.47, 95% CI: 1.18-1.84) had higher metabolic syndrome prevalence risk than non-exposed women (P for trend < 0.0001). There was a famine-gender interaction on metabolic syndrome prevalence risk (P for interaction = 0.0001). Results in the present study indicated that exposure to famine in early life increases the risk of metabolic syndrome in adulthood, particularly in women. Copyright © 2018 Elsevier Inc. All rights reserved.

Dying and Death: Helping Children Cope.

ERIC Educational Resources Information Center

Ledezma, Melissa L.

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

Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.

PubMed

Nabbout, R; Andrade, D M; Bahi-Buisson, N; Cross, H; Desquerre, I; Dulac, O; Granata, T; Hirsch, E; Navarro, V; Ouss, L; Pearl, P L; Schmidt, D; Thiele, E; Camfield, P R; Camfield, C S

2017-04-01

This is the second of three papers that summarize the second symposium on Transition in Epilepsies held in Paris in June 2016. This paper addresses the outcome for some particularly challenging childhood-onset epileptic disorders with the goal of recommending the best approach to transition. We have grouped these disorders in five categories with a few examples for each. The first group includes disorders presenting in childhood that may have late- or adult-onset epilepsy (metabolic and mitochondrial disorders). The second group includes disorders with changing problems in adulthood (tuberous sclerosis complex, Rett syndrome, Dravet syndrome, and autism). A third group includes epilepsies that change with age (Childhood Absence Epilepsy, Juvenile Myoclonic Epilepsy, West Syndrome, and Lennox-Gastaut syndrome). A fourth group consists of epilepsies that vary in symptoms and severity depending on the age of onset (autoimmune encephalitis, Rasmussen's syndrome). A fifth group has epilepsy from structural causes that are less likely to evolve in adulthood. Finally we have included a discussion about the risk of later adulthood cerebrovascular disease and dementia following childhood-onset epilepsy. A detailed knowledge of each of these disorders should assist the process of transition to be certain that attention is paid to the most important age-related symptoms and concerns. Copyright © 2016 Elsevier Inc. All rights reserved.

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

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

PubMed

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

2015-01-01

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. 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. 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. 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.

CHILDHOOD PARENTAL LOSS AND ADULT PSYCHOPATHOLOGY: EFFECTS OF LOSS CHARACTERISTICS AND CONTEXTUAL FACTORS*

PubMed Central

TYRKA, AUDREY R.; WIER, LAUREN; PRICE, LAWRENCE H.; ROSS, NICOLE S.; CARPENTER, LINDA L.

2013-01-01

The purpose of this study was to determine whether childhood parental death and childhood parental separation are linked to lifetime depressive and anxiety disorders after controlling for related risk factors. Participants were 105 individuals from the community, including a group with separation/desertion from a parent, a group with childhood parental death, and a matched control group whose parents remained married and living together. Participants completed interviews and questionnaires assessing symptoms of anxiety and depression, family psychiatric history, childhood maltreatment, and childhood parental relationships. Participants with separation/desertion and those with parental death were significantly more likely than the control subjects to report the subsequent onset of symptoms of a depressive or anxiety disorder. These effects were not fully explained by parental relationships or childhood maltreatment. However, in the group with parental separation only, family history of depressive and anxiety disorders accounted for the apparent effect of parental separation. These findings indicate that parental death may be a specific risk factor for depressive and anxiety disorders. For parental separation/desertion, our results highlight the overriding influence of risk factors that commonly co-occur with this form of parental loss. PMID:19069576

Genetic syndromes associated with overgrowth in childhood

PubMed Central

2013-01-01

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. PMID:24904861

Kindler syndrome.

PubMed

Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

2005-01-01

Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

Risk for Death among Children with Pneumonia, Afghanistan.

PubMed

Zabihullah, Rahmani; Dhoubhadel, Bhim G; Rauf, Ferogh A; Shafiq, Sahab A; Suzuki, Motoi; Watanabe, Kiwao; Yoshida, Lay M; Yasunami, Michio; Zabihullah, Salihi; Parry, Christopher M; Mirwais, Rabi; Ariyoshi, Koya

2017-08-01

In Afghanistan, childhood deaths from pneumonia are high. Among 639 children at 1 hospital, the case-fatality rate was 12.1%, and 46.8% of pneumococcal serotypes detected were covered by the 13-valent vaccine. Most deaths occurred within 2 days of hospitalization; newborns and malnourished children were at risk. Vaccination could reduce pneumonia and deaths.

Childhood-Adolescent Obesity in the Cardiorenal Syndrome: Lessons from Animal Models

PubMed Central

Hayden, Melvin R.; Sowers, James R.

2011-01-01

Background/Aims Childhood-adolescent overweight and obesity have grown to pandemic proportions during the past decade. The onset of obesity in younger adults will likely be manifested as earlier onset of myocardial and renal end-organ disease in younger adults. For the first time, it is estimated that the current generation may not live to be as old as their parents. Thus, it is important to develop animal models of childhood obesity to understand fundamental pathological organ changes. Methods In this regard, we utilize transmission electron microscopy evaluation to evaluate early remodeling changes of two adolescent rodent obesity models: the Zucker obese (fa/fa) rat and the db/db mouse models of obesity. We have concentrated on the initial ultrastructural remodeling (obese adipose tissue, skeletal muscle, and islet remodeling) and the associated changes in target end organs (including the myocardium and kidney) in young rodent models of obesity and insulin resistance, collectively manifesting as the cardiorenal metabolic syndrome (CRS). Results Briefly, tissues revealed the following ultrastructural remodeling abnormalities: inflammation, hypertrophy, and early fibrosis in adipose tissue; loss of mitochondria in skeletal muscles, hyperplasia, fibrosis, and depletion of insulin-secretory granules in pancreatic islets; increased intramyocardial lipid accumulation, fibrosis, and mitochondrial deposition in the myocardium, and obesity-related glomerulopathy and tubulopathy in the kidney. Conclusion Based on the current knowledge and ultrastructural observations of organ pathology, we propose mechanisms whereby obesity appears to be the driving force behind the development of the CRS. PMID:22294984

Weight Loss Trajectories and Adverse Childhood Experience among Obese Adolescents with Polycystic Ovary Syndrome.

PubMed

Rofey, Dana L; El Nokali, Nermeen E; Jackson Foster, Lovie J; Seiler, Emily; McCauley, Heather L; Miller, Elizabeth

2018-03-08

To examine the effect of childhood trauma and family history of psychiatric illness on weight loss trajectories of obese, female adolescents with polycystic ovary syndrome (PCOS). Prospective study. PCOS and adolescent medicine outpatient clinics. Participants were, on average, 15.8 years of age, 80% Caucasian (39/49 participants), and had a body mass index of 36.8 ± 8.8. Healthy Bodies, Healthy Minds is an evidence-based one-on-one intervention consisting of 4 weekly sessions, 4 biweekly sessions, and 3 monthly booster sessions. Each session was 45-60 minutes long with 15-30 minutes of physical activity with a lifestyle coach. Paired sample t tests were used to assess group differences in pre- and post-treatment weight between participants reporting childhood trauma and body mass index-matched controls not endorsing trauma. One-way analysis of variance was performed to assess the influence of childhood trauma on weight loss between the 2 groups. Adolescents without a family history of psychiatric illness lost more weight (mean, -1.28 kg; SD, 6.89) than those who had a family history of psychiatric illness (mean, -0.64 kg; SD, 4.7) from baseline to booster session completion (6 months). However, results of independent t tests did not reveal statistically significant group differences in weight loss from baseline to booster session completion (t 21  = 0.51; P = .6). Obese adolescents with PCOS who have experienced childhood trauma can lose weight and acquire its health benefits when enrolled in an intervention addressing weight, mood, and sleep. Family history of psychiatric illness emerged as a potential predictor of lesser weight loss. Copyright © 2018. Published by Elsevier Inc.

The genetics of childhood obesity and interaction with dietary macronutrients.

PubMed

Garver, William S; Newman, Sara B; Gonzales-Pacheco, Diana M; Castillo, Joseph J; Jelinek, David; Heidenreich, Randall A; Orlando, Robert A

2013-05-01

The genes contributing to childhood obesity are categorized into three different types based on distinct genetic and phenotypic characteristics. These types of childhood obesity are represented by rare monogenic forms of syndromic or non-syndromic childhood obesity, and common polygenic childhood obesity. In some cases, genetic susceptibility to these forms of childhood obesity may result from different variations of the same gene. Although the prevalence for rare monogenic forms of childhood obesity has not increased in recent times, the prevalence of common childhood obesity has increased in the United States and developing countries throughout the world during the past few decades. A number of recent genome-wide association studies and mouse model studies have established the identification of susceptibility genes contributing to common childhood obesity. Accumulating evidence suggests that this type of childhood obesity represents a complex metabolic disease resulting from an interaction with environmental factors, including dietary macronutrients. The objective of this article is to provide a review on the origins, mechanisms, and health consequences of obesity susceptibility genes and interaction with dietary macronutrients that predispose to childhood obesity. It is proposed that increased knowledge of these obesity susceptibility genes and interaction with dietary macronutrients will provide valuable insight for individual, family, and community preventative lifestyle intervention, and eventually targeted nutritional and medicinal therapies.

Using birth defects registry data to evaluate infant and childhood mortality associated with birth defects: an alternative to traditional mortality assessment using underlying cause of death statistics.

PubMed

Copeland, Glenn E; Kirby, Russell S

2007-11-01

Although birth defects are a leading cause of death in infancy and early childhood, the proportion of all deaths to children with clinically diagnosed birth defects is not well documented. The study is intended to measure the proportion of all deaths to infants and children under age 10 occurring to children with birth defects and how and why this proportion differs from the proportion of deaths due to an underlying cause of congenital anomalies using standard mortality statistics. A linked file of Michigan livebirths and deaths was combined with data from a comprehensive multisource birth defects registry of Michigan livebirths born during the years 1992 through 2000. The data were analyzed to determine the mortality rate for infants and children with birth defects and for children with no reported birth defect. Mortality risk ratios were calculated. The underlying causes of death for children with birth defects were also categorized and compared to cause- specific mortality rates for the general population. Congenital anomalies were the underlying cause of death for 17.8% of all infant deaths while infants with birth defects were 33.7% of all infant deaths in the study. Almost half of all Michigan deaths to children aged 1 to 2 were within the birth defects registry, though only 15.0% had an underlying cause of death of a congenital anomaly based upon standard mortality statistics. The mortality experience among children with birth defects was significantly higher than other children throughout the first 9 years of life, ranging from 4.6 for 5 year olds to 12.8 for children 1 to 2. Mortality risk ratios examined by cause of death for infants with birth defects were highest for other endocrine (28.1), other CNS (28.1), and heart (21.9) conditions. For children 1 through 9, the highest differential risk was seen for other perinatal conditions (39.0), other endocrine (29.7), other CNS (24.5), and heart (21.4). Childhood mortality analyses that incorporate birth

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

PubMed

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

2005-07-01

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

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

PubMed

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

2017-10-01

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

Early acute myeloblastic leukemia treatment for childhood myelodysplastic syndrome with t(3;5) (NPM/MLF1).

PubMed

Sevilla, Julián; Fernández-Plaza, Sandra; Lassaletta, Alvaro; González-Vicent, Marta; Contra, Trinidad; Madero, Luis

2007-12-01

Myelodysplastic syndromes (MDS) in childhood are rare hematologic diseases. MDS with t(3;5) (NPM/MLF1) is an unusual subtype without a well-defined clinical and prognostic pattern. A poor outcome has been reported, suggesting that hematopoietic transplantation is the only treatment option. Here in we described a 2-year-old child diagnosed with the disease, without a suitable hematopoietic donor, treated early in the disease with chemotherapy. He is alive and well 4 years after the end of treatment. This unusual MDS needs further studies to better understand the disease.

Clinical presentation of Churg-Strauss syndrome in children: A 12-year-old-boy with ANCA-negative Churg-Strauss syndrome.

PubMed

Razenberg, Femke G E M; Heynens, Jan W C M; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C; de Blic, Jacques; Rosias, Philippe P R

2012-01-01

Churg-Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg-Strauss syndrome. The propositus included, 50 cases of childhood Churg-Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg-Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome.

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

PubMed

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

2016-06-01

It is well known that marital status is significantly associated with mortality risk. Little is known, however, regarding whether and how the effects of marital status are moderated by one's own family structure in childhood. The purposes of this study are to examine whether marital status (i.e., family structure in adulthood) and living with both biological parents in childhood (i.e., family structure in childhood) are associated with mortality risk, and whether and how the effects of marital status vary depending on family structure in childhood and gender. We analyze the risk of death in five waves of the General Social Survey (GSS) from 1994 through 2002 after linking the GSS data to death certificate data from the National Death Index through 2008. The findings indicate that being widowed increases the risk of mortality, while living with both parents in childhood lowers it. Interestingly, analysis of the interaction between marital status and family structure in childhood reveals that the disadvantage of widowhood in terms of mortality is significantly stronger for those who lived with both parents in childhood than for those who did not. Subsample analysis by gender shows that the moderating effect of living with both parents is largely equal across men and women, though statistically more robust for men. These findings suggest that living with both parents during childhood may increase vulnerability to marital disruptions due to unwanted life events such as spousal loss. Childhood advantages, ironically, may form more stressful contexts of spousal loss by lowering one's adaptability or immunity to adulthood hardships, especially when the hardships in adulthood are characteristically opposite from the childhood advantages. Copyright © 2016 Elsevier Ltd. All rights reserved.

Is Childhood Abuse or Neglect Associated with Symptom Reports and Physiological Measures in Women with Irritable Bowel Syndrome?

PubMed Central

Heitkemper, Margaret M.; Cain, Kevin C.; Burr, Robert L.; Jun, Sang-Eun; Jarrett, Monica E.

2013-01-01

Purpose Early childhood traumatic experiences (e.g., abuse or neglect) may contribute to sleep disturbances as well as other indicators of arousal found in patients with irritable bowel syndrome (IBS). This study compared women with IBS positive for a history of childhood abuse and/or neglect to IBS women without this history, on daily gastrointestinal (GI), sleep, somatic, and psychological symptom distress, polysomnographic sleep, urine catecholamines and cortisol, and nocturnal heart rate variability (HRV). Methods Adult women with IBS recruited from the community were divided into 21 IBS with abuse/neglect and 19 IBS without abuse/neglect based on responses to the Childhood Trauma Questionnaire (physical, emotional, sexual abuse or neglect). Women were interviewed, maintained a 30-day symptom diary, and slept in a sleep laboratory. Polysomnographic and nocturnal heart rate variability data were obtained. First voided urine samples were assayed for cortisol and catecholamine levels. Results Women with IBS positive for abuse/neglect history were older than women without this history. Among GI symptoms, only heartburn and nausea were significantly higher in women with IBS with abuse/neglect. Sleep, somatic and psychological symptoms were significantly higher in women in the IBS with abuse/neglect group. With the exception of percent time in REM sleep, there were few differences in sleep stage variables and urine hormone levels. Mean heart rate interval and the Ln SDNN values were lower in those who experienced childhood abuse/neglect. Conclusion Women with IBS who self report childhood abuse/neglect are more likely to report disturbed sleep, somatic symptoms, and psychological distress. Women with IBS should be screened for adverse childhood events including abuse/neglect. PMID:21196423

Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.

PubMed

Smith, Miriam J; Beetz, Christian; Williams, Simon G; Bhaskar, Sanjeev S; O'Sullivan, James; Anderson, Beverley; Daly, Sarah B; Urquhart, Jill E; Bholah, Zaynab; Oudit, Deemesh; Cheesman, Edmund; Kelsey, Anna; McCabe, Martin G; Newman, William G; Evans, D Gareth R

2014-12-20

Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but detection rates > 70% have rarely been reported. We aimed to define the causative mutations in individuals with Gorlin syndrome without PTCH1 mutations. We undertook exome sequencing on lymphocyte DNA from four unrelated individuals from families with Gorlin syndrome with no PTCH1 mutations found by Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), or RNA analysis. A germline heterozygous nonsense mutation in SUFU was identified in one of four exomes. Sanger sequencing of SUFU in 23 additional PTCH1-negative Gorlin syndrome families identified a SUFU mutation in a second family. Copy-number analysis of SUFU by MLPA revealed a large heterozygous deletion in a third family. All three SUFU-positive families fulfilled diagnostic criteria for Gorlin syndrome, although none had odontogenic jaw keratocysts. Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma. We demonstrate convincing evidence that SUFU mutations can cause classical Gorlin syndrome. Our study redefines the risk of medulloblastoma in Gorlin syndrome, dependent on the underlying causative gene. Previous reports have found a 5% risk of medulloblastoma in Gorlin syndrome. We found a < 2% risk in PTCH1 mutation-positive individuals, with a risk up to 20× higher in SUFU mutation-positive individuals. Our data suggest childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome. © 2014 by American Society of Clinical Oncology.

The Khmer ‘Weak Heart’ Syndrome: Fear of Death from Palpitations

PubMed Central

Hinton, Devon; Hinton, Susan; Um, Khin; Chea, Audria; Sak, Sophia

2009-01-01

According to the Khmer conception, a person suffering ‘weak heart’ (khsaoy beh daung) has episodes of palpitations on slight provocation (e.g. triggered by orthostasis, anger, a noise, worry, an odor or exercise) and runs the risk of dying of heart arrest during these periods of palpitations; too, the sufferer typically has other symptoms attributed to the purported cardiac dysfunction: fatigue, shortness of breath, and orthostatic dizziness. Many Khmer refugees suffer this cultural syndrome, an anxious–dysphoria ontology, most probably of French colonial provenance. The syndrome demonstrates considerable overlap with those Western illness categories that feature panic attacks, in particular post-traumatic stress disorder (PTSD) and panic disorder. In a psychiatric clinic survey, 60 percent (60/100) of those assessed believed themselves to currently suffer ‘weak heart’; 90 percent (54/60) of those considering themselves to suffer from ‘weak heart’ thought that palpitations (e.g., those resulting from a loud noise or orthostasis) might result in death. The article illustrates the profoundly culturally constructed nature of ‘cardiac sensations,’ located in a specific historical trajectory and episteme; too, the article suggests that trauma may result more in panic disorder than ‘PTSD’ when autonomic arousal symptoms (in the present case, palpitations) are considered potentially life-threatening. PMID:20814562

Childhood moyamoya disease accompanying Leigh syndrome.

PubMed

Cullu, Nesat; Karakas, Ekrem; Karakas, Omer; Deveer, Mehmet; Calik, Mustafa; Boyaci, Fatima Nurefsan

2013-12-01

Moyamoya disease is a cerebrovasculopathy of unknown etiology during the course of which the main and terminal veins of the internal carotid artery undergo progressive vein occlusion. Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders and high lactate levels. Many diseases and syndromes have been defined that are associated with Moyamoya disease. To the best of our knowledge, the association of moyamoya disease with Leigh syndrome has not been defined as yet. In this study, the clinical and imaging results of a 3-year-old male child displaying the association of Moyamoya disease and Leigh syndrome are presented.

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

PubMed

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

2015-09-10

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

Kindler syndrome.

PubMed

Lai-Cheong, Joey E; McGrath, John A

2010-01-01

Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

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…

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,…

The Influence of Religious Awareness Program in Scaling down Death Anxiety among Children Sample in Late Childhood Stage; 9-12 Years Old in Al Shobak Province

ERIC Educational Resources Information Center

Al-Mohtadi, Reham Mohammad; Al-Msubheen, Moonerh Mheel

2017-01-01

This study drives at identifying the influence of religious awareness program in scaling down the death anxiety among sample consisted of (50) students; (30) males and (20) females, at the late childhood stage. The sample distributed randomly into (25) students representing main group and (25) students as experimental group. Religious Awareness…

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

PubMed

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

2017-02-01

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

Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.

PubMed

Fink, Adam Z; Gittler, Julia K; Nakrani, Radhika N; Alis, Jonathan; Blumfield, Einat; Levin, Terry L

Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. We review the imaging findings in childhood diseases associated with dermatologic manifestations. Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura). Familiarity with pertinent findings in childhood diseases presenting with dermatologic manifestations in childhood diseases aids the radiologist in confirming the diagnosis and guiding imaging workup. Copyright © 2017 Elsevier Inc. All rights reserved.

The Episodic Syndromes That Maybe Associated with Migraines.

PubMed

Lebron, Diana; Vasconcellos, Elza

2016-02-01

The "childhood periodic syndromes" have been renamed "the episodic syndromes that maybe associated with migraines". These syndromes were initially considered precursors of migraines that only occurred in childhood; however recent literature suggests that the episodic syndromes can occur in adults with known migraine and does not necessarily present as a precursor. This review article discusses the recent literature regarding the episodic syndromes and potential treatments. These disorders are seen by multiple subspecialists, therefore it is important to recognize and use the same definitions, criteria and nomenclature. A collaborative and multidisciplinary approach is critical to characterize, manage and potentially improve outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

The Child and the Fear of Death

PubMed Central

Mitchell, Nelli L.; Schulman, Karen R.

1981-01-01

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

[Care continuity for patients with Prader-Willi syndrome during transition from childhood to adulthood].

PubMed

Saitoh, Shinji

2010-01-01

Prader-Willi syndrome(PWS) is a complex multisystem genetic disorder, of which characteristic phenotypes include neonatal hypotonia, hyperphagia resulting in obesity, mental retardation, hypogonadism, and behavioral and psychiatric problems. The diagnosis can be obtained as early as during neonatal period thanks to development of genetic testing. Clinical features of PWS will change depending on age, although core phenotypes of hyperphagia, obesity and psychiatric issues stay for lifetime. Therefore, integrated multidisciplinary approach starting from neonatal period is mandatory to ensure optimal management to improve lifelong quality of life. For successful transition from childhood to adulthood, multidisciplinary team need to share clinical information, and should keep the same policy about food, environment and psychiatric issues.

Long-term mortality and causes of death in isolated GHD, ISS, and SGA patients treated with recombinant growth hormone during childhood in Belgium, The Netherlands, and Sweden: preliminary report of 3 countries participating in the EU SAGhE study.

PubMed

Sävendahl, Lars; Maes, Marc; Albertsson-Wikland, Kerstin; Borgström, Birgit; Carel, Jean-Claude; Henrard, Séverine; Speybroeck, Niko; Thomas, Muriel; Zandwijken, Gladys; Hokken-Koelega, Anita

2012-02-01

The long-term mortality in adults treated with recombinant GH during childhood has been poorly investigated. Recently released data from the French part of the European Union Safety and Appropriateness of GH treatments in Europe (EU SAGhE) study have raised concerns on the long-term safety of GH treatment. To report preliminary data on long-term vital status and causes of death in patients with isolated GH deficiency or idiopathic short stature or born small for gestational age treated with GH during childhood, in Belgium, The Netherlands, and Sweden. Data were retrieved from national registries of GH-treated patients and vital status from National Population Registries. Causes of death were retrieved from a National Cause of Death Register (Sweden), Federal and Regional Death Registries (Belgium), or individual patient records (The Netherlands). All patients diagnosed with isolated GH deficiency or idiopathic short stature or born small for gestational age started on recombinant GH during childhood from 1985-1997 and who had attained 18 yr of age by the end of 2010 were included. Vital status was available for approximately 98% of these 2,543 patients, corresponding to 46,556 person-years of observation. Vital status, causes of death, age at death, year of death, duration of GH treatment, and mean GH dose during treatment were assessed. Among 21 deaths identified, 12 were due to accidents, four were suicides, and one patient each died from pneumonia, endocrine dysfunction, primary cardiomyopathy, deficiency of humoral immunity, and coagulation defect. In these cohorts, the majority of deaths (76%) were caused by accidents or suicides. Importantly, none of the patients died from cancer or from a cardiovascular disease.

Animal models for assessment of infection and inflammation: contributions to elucidating the pathophysiology of sudden infant death syndrome.

PubMed

Blood-Siegfried, Jane

2015-01-01

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

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

PubMed Central

Blood-Siegfried, Jane

2015-01-01

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

Levamisole in steroid-sensitive nephrotic syndrome of childhood: the lost paradise?

PubMed

Davin, J C; Merkus, M P

2005-01-01

Among the different drugs used for sparing steroids in steroid-sensitive nephrotic syndrome (SSNS) with frequent relapses and steroid dependency, levamisole is the least toxic and the least expensive. However, it is neither approved for this indication nor widely used in Europe. This may be explained by the difficulty in obtaining levamisole in some countries and the lack of good quality evidence for its effectiveness. Evidence is limited to three clinical trials that all suffered from methodological limitations. Statistical synthesis of these trials showed that levamisole reduces the risk of a relapse during treatment (relative risk 0.60, 95% confidence interval 0.45-0.79). From the available information, no conclusions can be drawn on the steroid-sparing effect, the long-term efficacy, and safety, as well as possible differences in efficacy in different subgroups of SSNS patients. The confirmation of a favorable effect of levamisole on the reduction of the frequency of relapses and on sparing steroids in an adequately powered, double-blind, placebo-controlled, randomized, multi-center clinical trial will promote consensus on the place of levamisole in the treatment of SSNS of childhood. Follow-up should be at least 1 year to evaluate long-term efficacy and side effects. If the results of such a clinical trial confirm the beneficial effects of levamisole in nephrotic syndrome, this may allow registration for this indication and interest companies other than Jansen-Cilag, which only recently has decided to stop its production.

Clinical presentation of Churg–Strauss syndrome in children

PubMed Central

Razenberg, Femke G.E.M.; Heynens, Jan W.C.M.; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C.; de Blic, Jacques; Rosias, Philippe P.R.

2012-01-01

Churg–Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg–Strauss syndrome. The propositus included, 50 cases of childhood Churg–Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg–Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome. PMID:26029598

Deaths: leading causes for 2005.

PubMed

Heron, Melonie; Tejada-Vera, Betzaida

2009-12-23

This report presents final 2005 data on the 10 leading causes of death in the United States by age, race, sex, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2005. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2005, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Cerebrovascular diseases; Chronic lower respiratory diseases; Accidents (unintentional injuries); Diabetes mellitus; Alzheimer's disease; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Septicemia. They accounted for about 77 percent of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2005 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birthweight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Newborn affected by complications of placenta, cord and membranes; Accidents (unintentional injuries); Respiratory distress of newborn; Bacterial sepsis of newborn; Neonatal hemorrhage; and Necrotizing enterocolitis of newborn. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.

Deaths: leading causes for 2007.

PubMed

Heron, Melonie

2011-08-26

This report presents final 2007 data on the 10 leading causes of death in the United States by age, race, sex, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the Division of Vital Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2007. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2007, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Cerebrovascular diseases; Chronic lower respiratory diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Septicemia. They accounted for approximately 76 percent of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2007 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.

Deaths: leading causes for 2003.

PubMed

Heron, Melonie P; Smith, Betty L

2007-03-15

This report presents final 2003 data on the 10 leading causes of death in the United States by age, race, sex, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2003. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. In 2003, the 10 leading causes of death were (in rank order): Diseases of heart; Malignant neoplasms; Cerebrovascular diseases; Chronic lower respiratory diseases; Accidents (unintentional injuries); Diabetes mellitus; Influenza and pneumonia; Alzheimer's disease; Nephritis, nephrotic syndrome and nephrosis; and Septicemia and accounted for about 78 percent of all deaths occurring in the United States. Differences in the ranking are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2003 were (in rank order): Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Newborn affected by complications of placenta, cord and membranes; Accidents (unintentional injuries); Respiratory distress of newborn; Bacterial sepsis of newborn; Neonatal hemorrhage; and Diseases of the circulatory system. Important variation in the leading causes of infant death is noted for the neonatal and postneonatal periods.

Deaths: leading causes for 2004.

PubMed

Heron, Melonie

2007-11-20

This report presents final 2004 data on the 10 leading causes of death in the United States by age, race, sex, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2004. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. In 2004, the 10 leading causes of death were (in rank order) Diseases of heart; Malignant neoplasms; Cerebrovascular diseases; Chronic lower respiratory diseases; Accidents (unintentional injuries); Diabetes mellitus; Alzheimer's disease; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Septicemia and accounted for about 78 percent of all deaths occurring in the United States. Differences in the ranking are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2004 were (in rank order) Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Respiratory distress of newborn; Bacterial sepsis of newborn; Neonatal hemorrhage; and Diseases of the circulatory system. Important variation in the leading causes of infant death is noted for the neonatal and postneonatal periods.

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 ...

Rituximab for childhood-onset, complicated, frequently relapsing nephrotic syndrome or steroid-dependent nephrotic syndrome: a multicentre, double-blind, randomised, placebo-controlled trial.

PubMed

Iijima, Kazumoto; Sako, Mayumi; Nozu, Kandai; Mori, Rintaro; Tuchida, Nao; Kamei, Koichi; Miura, Kenichiro; Aya, Kunihiko; Nakanishi, Koichi; Ohtomo, Yoshiyuki; Takahashi, Shori; Tanaka, Ryojiro; Kaito, Hiroshi; Nakamura, Hidefumi; Ishikura, Kenji; Ito, Shuichi; Ohashi, Yasuo

2014-10-04

Rituximab could be an effective treatment for childhood-onset, complicated, frequently relapsing nephrotic syndrome (FRNS) and steroid-dependent nephrotic syndrome (SDNS). We investigated the efficacy and safety of rituximab in patients with high disease activity. We did a multicentre, double-blind, randomised, placebo-controlled trial at nine centres in Japan. We screened patients aged 2 years or older experiencing a relapse of FRNS or SDNS, which had originally been diagnosed as nephrotic syndrome when aged 1-18 years. Patients with complicated FRNS or SDNS who met all other criteria were eligible for inclusion after remission of the relapse at screening. We used a computer-generated sequence to randomly assign patients (1:1) to receive rituximab (375 mg/m(2)) or placebo once weekly for 4 weeks, with age, institution, treatment history, and the intervals between the previous three relapses as adjustment factors. Patients, guardians, caregivers, physicians, and individuals assessing outcomes were masked to assignments. All patients received standard steroid treatment for the relapse at screening and stopped taking immunosuppressive agents by 169 days after randomisation. Patients were followed up for 1 year. The primary endpoint was the relapse-free period. Safety endpoints were frequency and severity of adverse events. Patients who received their assigned intervention were included in analyses. This trial is registered with the University Hospital Medical Information Network clinical trials registry, number UMIN000001405. Patients were centrally registered between Nov 13, 2008, and May 19, 2010. Of 52 patients who underwent randomisation, 48 received the assigned intervention (24 were given rituximab and 24 placebo). The median relapse-free period was significantly longer in the rituximab group (267 days, 95% CI 223-374) than in the placebo group (101 days, 70-155; hazard ratio: 0·27, 0·14-0·53; p<0·0001). Ten patients (42%) in the rituximab group and six (25

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

ERIC Educational Resources Information Center

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

2004-01-01

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

Professional support requirements and grief interventions for parents bereaved by an unexplained death at different time periods in the grief process.

PubMed

Rudd, Rebecca A; D'Andrea, Livia M

2013-01-01

The purpose of this qualitative phenomenological study examines the support needs and grief interventions professional and bereaved parents believed were helpful during different time periods in the grief process: the first 72 hours, first three to 14 days, and two weeks and beyond. Ten professionals from the following disciplines were interviewed: emergency communications, emergency medical technician, police, fireman, detective, social worker funeral director chaplain, peer support leader, and bereavement organization. Five parents and one grandparent bereaved by Sudden Infant Death Syndrome (SIDS) or Sudden Unexplained Death in Childhood (SUDC) were interviewed. This study identified 13 support need and grief interventions: contact support people, emotional and cognitive regulation, preliminary information on cause of death, time with deceased child, accommodate and advocate, human compassion and support, describe timeline and process, referrals and resources, affordable and easy access to services, communication and follow-up, community experience, professional mental health support, and memorialize. Recommendations are provided on ways to improve services to newly bereaved parents.

Influenza-associated Encephalitis/Encephalopathy Identified by the Australian Childhood Encephalitis Study 2013-2015.

PubMed

Britton, Philip N; Dale, Russell C; Blyth, Christopher C; Macartney, Kristine; Crawford, Nigel W; Marshall, Helen; Clark, Julia E; Elliott, Elizabeth J; Webster, Richard I; Cheng, Allen C; Booy, Robert; Jones, Cheryl A

2017-11-01

Influenza-associated encephalitis/encephalopathy (IAE) is an important cause of acute encephalitis syndrome in children. IAE includes a series of clinicoradiologic syndromes or acute encephalopathy syndromes that have been infrequently reported outside East Asia. We aimed to describe cases of IAE identified by the Australian Childhood Encephalitis study. Children ≤ 14 years of age with suspected encephalitis were prospectively identified in 5 hospitals in Australia. Demographic, clinical, laboratory, imaging, and outcome at discharge data were reviewed by an expert panel and cases were categorized by using predetermined case definitions. We extracted cases associated with laboratory identification of influenza virus for this analysis; among these cases, specific IAE syndromes were identified where clinical and radiologic features were consistent with descriptions in the published literature. We identified 13 cases of IAE during 3 southern hemisphere influenza seasons at 5 tertiary children's hospitals in Australia; 8 children with specific acute encephalopathy syndromes including: acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late diffusion restriction, mild encephalopathy with reversible splenial lesion, and hemiconvulsion-hemiplegia syndrome. Use of influenza-specific antiviral therapy and prior influenza vaccination were infrequent. In contrast, death or significant neurologic morbidity occurred in 7 of the 13 children (54%). The conditions comprising IAE are heterogeneous with varied clinical features, magnetic resonance imaging changes, and outcomes. Overall, outcome of IAE is poor emphasizing the need for optimized prevention, early recognition, and empiric management.

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.

Deaths: Leading Causes for 2012.

PubMed

Heron, Melonie

2015-08-31

This report presents final 2012 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2012," the National Center for Health Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2012. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2012, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). These causes accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2012 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.

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

Quigley, Charmian A; Wan, Xiaohai; Garg, Sipi; Kowal, Karen; Cutler, Gordon B; Ross, Judith L

2014-09-01

The optimal approach to estrogen replacement in girls with Turner syndrome has not been determined. 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. This study was a prospective, randomized, double-blind, placebo-controlled clinical trial. The study was conducted at two US pediatric endocrine centers. Girls with Turner syndrome (n = 149), aged 5.0-12.5 years, were enrolled; data from 123 girls were analyzable for pubertal onset. 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. 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. 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. In addition to previously reported effects on cognitive measures and GH-mediated height gain, childhood estrogen replacement significantly normalized the onset and tempo of puberty. Childhood low

Management of moyamoya syndrome in patients with Noonan syndrome.

PubMed

Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

2016-06-01

A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

Severe peri-ictal respiratory dysfunction is common in Dravet syndrome

PubMed Central

Kim, YuJaung; Bravo, Eduardo; Thirnbeck, Caitlin K.; Smith-Mellecker, Lori A.; Kim, Se Hee; Gehlbach, Brian K.; Laux, Linda C.; Zhou, Xiuqiong; Nordli, Douglas R.

2018-01-01

Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac mechanisms. Here we show that patients with DS commonly have peri-ictal respiratory dysfunction. One patient had severe and prolonged postictal hypoventilation during video EEG monitoring and died later of SUDEP. Mice with an Scn1aR1407X/+ loss-of-function mutation were monitored and died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia. Death could be prevented with mechanical ventilation after seizures were induced by hyperthermia or maximal electroshock. Muscarinic receptor antagonists did not prevent bradycardia or death when given at doses selective for peripheral parasympathetic blockade, whereas apnea, bradycardia, and death were prevented by the same drugs given at doses high enough to cross the blood-brain barrier. When given via intracerebroventricular infusion at a very low dose, a muscarinic receptor antagonist prevented apnea, bradycardia, and death. We conclude that SUDEP in patients with DS can result from primary central apnea, which can cause bradycardia, presumably via a direct effect of hypoxemia on cardiac muscle. PMID:29329111

Association between histological alterations in the thymus and sudden infant death syndrome.

PubMed

Varga, Ivan; Bódi, Ildikó; Mešťanová, Veronika; Kováč, Martin; Klein, Martin

2018-04-01

Sudden infant death syndrome (SIDS) involves the death of an infant during the first year of life and it is among the leading causes of infant mortality worldwide. One hypothesis regarding the pathogenesis of SIDS is that it results from a combination of three independent factors: endogenous vulnerability, a critical time window during postnatal development, and exogenous stressors. This hypothesis is known as the "triple-risk model". In this study, we used an immunohistological approach to compare the cellular microenvironments of thymuses from 19 infants whose sudden death was classified as SIDS and a control group, which consisted of thymuses from age-matched children undergoing surgery for various congenital heart defects. We hypothesized that morphological signs of stress-related thymic involution would be present. Based on our observations, we found evidence that the proliferation and maturation of T-lymphocytes in the thymuses of infants with SIDS were suppressed. We observed enhanced macrophage activity, suggesting an increase in the apoptosis of lymphocytes and decrease in number of thymic dendritic cells and myoid cells. Significant apoptosis of thymic lymphocytes without cell regeneration typically leads to atrophy of the thymus. All cellular events we observed resemble the initial stage of stress-related thymic involution. These results support the "triple-risk model," suggesting that certain exogenous stressors might be involved in the pathogenesis of SIDS. This was probably not recognized during the autopsies of infants who died suddenly. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

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

PubMed

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

2010-12-01

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

Severe childhood obesity: an under-recognised and growing health problem.

PubMed

Bass, Rosara; Eneli, Ihuoma

2015-11-01

Childhood obesity is a serious and urgent public health problem. In the last 10 years, there has been a concerted effort in the USA and globally to develop and implement educational, medical and public health interventions designed to attenuate its growth. The success of these efforts was probably responsible for the plateau in the prevalence rate of childhood obesity noted in the last two years. While the attenuation of the overall prevalence of childhood obesity is promising, data from the same cohort reveal a concerning upward trend in the number of children with severe obesity. The consequences of severe childhood obesity can be devastating. When compared to their moderately obese peers, children with severe obesity are at greater risk for adult obesity, early atherosclerosis, hypertension, type 2 diabetes, metabolic syndrome, fatty liver disease and premature death. The determinants for severe obesity include the same lifestyle, environmental, familial and societal risk factors reported for overweight or obesity. While all these risk factors must be screened for, genetic influences are distinct considerations that may have greater bearing especially with early-onset obesity. Treatments for severe childhood obesity include lifestyle intervention, specialised low-calorie diets and bariatric surgery. Outcomes of these treatments vary, with bariatric surgery clearly the most successful of the three for both short-term and long-term weight loss. Severe obesity in children and adolescents remains a challenging health condition. The enormous medical, emotional and financial burden these children and their families endure signals an urgent need to further investigate and standardise treatment modalities and improve outcomes. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

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)

Deaths: leading causes for 2009.

PubMed

Heron, Melonie

2012-10-26

This report presents final 2009 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the Division of Vital Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2009. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2009, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). These causes accounted for approximately 75% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2009 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.

Deaths: leading causes for 2008.

PubMed

Heron, Melonie

2012-06-06

This report presents final 2008 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the Division of Vital Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2008. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. in 2008, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for approximately 76 percent of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2008 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods.

Deaths: leading causes for 2002.

PubMed

Anderson, Robert N; Smith, Betty L

2005-03-07

This report presents final 2002 data on the 10 leading causes of death in the United States by age, race, sex, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 States and the District of Columbia in 2002. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. In 2002, the 10 leading causes of death were (in rank order) Diseases of heart; Malignant neoplasms; Cerebrovascular diseases; Chronic lower respiratory diseases; Accidents (unintentional injuries); Diabetes mellitus; Influenza and pneumonia; Alzheimer's disease; Nephritis, nephrotic syndrome and nephrosis; and Septicemia and accounted for about 79 percent of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2002 were (in rank order) Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birthweight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Newborn affected by complications of placenta, cord and membranes; Accidents (unintentional injuries); Respiratory distress of newborn; Bacterial sepsis of newborn; Diseases of the circulatory system; and Intrauterine hypoxia and birth asphyxia. Important variation in the leading causes of infant death is noted for the neonatal and postneonatal periods.

Fatal and hospitalised childhood injuries in Fiji (TRIP Project-3).

PubMed

Naisaki, Asilika; Wainiqolo, Iris; Kafoa, Berlin; Kool, Bridget; Taoi, Mabel; McCaig, Eddie; Ameratunga, Shanthi

2013-01-01

Although childhood injury rates in low- and middle-income countries are known to be high, contemporary data on this topic from Pacific Island countries and territories are scant. We describe the epidemiology of childhood injuries resulting in death or hospital admission in Fiji using a population-based registry. A cross-sectional analysis of the Fiji Injury Surveillance in Hospitals system investigated the characteristics associated with childhood injuries (<15 years) in Viti Levu, resulting in death or hospital admission (≥12 h) from October 2005 to September 2006. The 496 children meeting the study eligibility criteria corresponded to annual injury-related hospitalisation and death rates of 265.4 and 15.3 per 100,000, respectively. Most (82%) deaths occurred prior to hospitalisation. The death and hospitalisation rates were highest among the <5- and 5- to 9-year groups, respectively. Males and indigenous Fijian children were at increased risk of injury. The leading causes of injury death were road traffic injury (29%), choking (25%) and drowning (18%). Major causes of hospital admission were falls (48%), burns (13%), road traffic injury (11%) and being hit by a person or object (10%). Fractures and head injuries were the most common types of injury. The findings support the need for a national strategy that builds capacity and mobilises resources to prevent childhood injuries in Fiji. Priority actions should include investment in technical support and research to identify local contextual and social determinants that inform the development and implementation of effective injury prevention interventions as a child health survival strategy. © 2012 The Authors. Journal of Paediatrics and Child Health © 2012 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

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

ERIC Educational Resources Information Center

Duhn, Iris

2016-01-01

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

Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers

PubMed Central

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

2014-01-01

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

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

Two patients with chromosome 22q11.2 deletion presenting with childhood obesity and hyperphagia.

PubMed

Bassett, J K; Chandler, K E; Douzgou, S

2016-08-01

Chromosome 22q11.2 deletion syndrome is a clinically heterogeneous condition of intellectual disability, parathyroid and thyroid hypoplasia, palatal abnormalities, cardiac malformations and psychiatric symptoms. Hyperphagia and childhood obesity is widely reported in Prader-Willi Syndrome (PWS) but there is only one previous report of this presentation in chromosome 22q11.2 deletion syndrome. We describe two further cases of chromosome 22q11.2 deletion syndrome in which hyperphagia and childhood obesity were the presenting features. This may be a manifestation of obsessive behaviour secondary to some of the psychiatric features commonly seen in chromosome 22q11.2 deletion syndrome. Serious complications may result from hyperphagia and childhood obesity therefore early recognition and intervention is crucial. Due to the similar clinical presentation of these two patients to patients with PWS, it is suggested that the hyperphagia seen here should be managed in a similar way to how it is managed in PWS. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Slipping rib syndrome in childhood.

PubMed

Mooney, D P; Shorter, N A

1997-07-01

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

Deaths: Leading Causes for 2015.

PubMed

Heron, Melonie

2017-11-01

Objectives-This report presents final 2015 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2015," the National Center for Health Statistics' annual report of final mortality statistics. Methods-Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2015. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. Results-In 2015, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Accidents (unintentional injuries); Cerebrovascular diseases; Alzheimer's disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2015 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without

Deaths: Leading Causes for 2013.

PubMed

Heron, Melonie

2016-02-16

This report presents final 2013 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2013," the National Center for Health Statistics’ annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2013. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD–10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2013, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Accidents (unintentional injuries); Cerebrovascular diseases; Alzheimer’s disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2013 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Newborn affected by maternal complications of pregnancy; Sudden infant death syndrome; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as

Deaths: Leading Causes for 2011.

PubMed

Heron, Melonie

2015-07-27

This report presents final 2011 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements ‘‘Deaths: Final Data for 2011,’’ the National Center for Health Statistics’ annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2011. Causes of death classified by the International Classification of Diseases, 10th Revision (ICD–10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2011, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer’s disease; Diabetes mellitus; Influenza and pneumonia; Nephritis, nephrotic syndrome and nephrosis; and Intentional self-harm (suicide). They accounted for 74% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2011 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Neonatal hemorrhage. Important variations in the leading causes of infant death are noted for the neonatal and postneonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission

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

USDA-ARS?s Scientific Manuscript database

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 ...

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

Prevalence and characteristics of metabolic syndrome in adults from the French childhood leukemia survivors’ cohort: a comparison with controls from the French population

PubMed Central

Oudin, Claire; Berbis, Julie; Bertrand, Yves; Vercasson, Camille; Thomas, Frédérique; Chastagner, Pascal; Ducassou, Stéphane; Kanold, Justyna; Tabone, Marie-Dominique; Paillard, Catherine; Poirée, Marilyne; Plantaz, Dominique; Dalle, Jean-Hugues; Gandemer, Virginie; Thouvenin, Sandrine; Sirvent, Nicolas; Saultier, Paul; Béliard, Sophie; Leverger, Guy; Baruchel, André; Auquier, Pascal; Pannier, Bruno; Michel, Gérard

2018-01-01

The prevalence of the metabolic syndrome among adults from the French LEA childhood acute leukemia survivors’ cohort was prospectively evaluated considering the type of anti-leukemic treatment received, and compared with that of controls. The metabolic profile of these patients was compared with that of controls. A total of 3203 patients from a French volunteer cohort were age- and sex-matched 3:1 to 1025 leukemia survivors (in both cohorts, mean age: 24.4 years; females: 51%). Metabolic syndrome was defined according to the National Cholesterol Education Program’s Adult Treatment Panel III criteria. Metabolic syndrome was found in 10.3% of patients (mean follow-up duration: 16.3±0.2 years) and 4.5% of controls, (OR=2.49; P<0.001). Patients transplanted with total body irradiation presented the highest risk (OR=6.26; P<0.001); the other treatment groups also showed a higher risk than controls, including patients treated with chemotherapy only. Odd Ratios were 1.68 (P=0.005) after chemotherapy only, 2.32 (P=0.002) after chemotherapy and cranial irradiation, and 2.18 (P=0.057) in patients transplanted without irradiation. Total body irradiation recipients with metabolic syndrome displayed a unique profile compared with controls: smaller waist circumference (91 vs. 99.6 cm; P=0.01), and increased triglyceride levels (3.99 vs. 1.5 mmol/L; P<0.001), fasting glucose levels (6.2 vs. 5.6 mmol/L; P=0.049), and systolic blood pressure (137.9 vs. 132.8 mmHg; P=0.005). By contrast, cranial irradiation recipients with metabolic syndrome had a larger waist circumference (109 vs. 99.6 cm; P=0.007) than controls. Regardless of the anti-leukemic treatment, metabolic syndrome risk was higher among childhood leukemia survivors. Its presentation differed depending on the treatment type, thus suggesting a divergent pathophysiology. This study is registered at clinicaltrials.gov identifier: 01756599. PMID:29351982

A "Wear and Tear" Hypothesis to Explain Sudden Infant Death Syndrome.

PubMed

Elhaik, Eran

2016-01-01

Sudden infant death syndrome (SIDS) is the leading cause of death among USA infants under 1 year of age accounting for ~2,700 deaths per year. Although formally SIDS dates back at least 2,000 years and was even mentioned in the Hebrew Bible (Kings 3:19), its etiology remains unexplained prompting the CDC to initiate a sudden unexpected infant death case registry in 2010. Due to their total dependence, the ability of the infant to allostatically regulate stressors and stress responses shaped by genetic and environmental factors is severely constrained. We propose that SIDS is the result of cumulative painful, stressful, or traumatic exposures that begin in utero and tax neonatal regulatory systems incompatible with allostasis. We also identify several putative biochemical mechanisms involved in SIDS. We argue that the important characteristics of SIDS, namely male predominance (60:40), the significantly different SIDS rate among USA Hispanics (80% lower) compared to whites, 50% of cases occurring between 7.6 and 17.6 weeks after birth with only 10% after 24.7 weeks, and seasonal variation with most cases occurring during winter, are all associated with common environmental stressors, such as neonatal circumcision and seasonal illnesses. We predict that neonatal circumcision is associated with hypersensitivity to pain and decreased heart rate variability, which increase the risk for SIDS. We also predict that neonatal male circumcision will account for the SIDS gender bias and that groups that practice high male circumcision rates, such as USA whites, will have higher SIDS rates compared to groups with lower circumcision rates. SIDS rates will also be higher in USA states where Medicaid covers circumcision and lower among people that do not practice neonatal circumcision and/or cannot afford to pay for circumcision. We last predict that winter-born premature infants who are circumcised will be at higher risk of SIDS compared to infants who experienced fewer

Deaths: leading causes for 2010.

PubMed

Heron, Melonie

2013-12-20

This report presents final 2010 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements the Division of Vital Statistics' annual report of final mortality statistics. Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2010. Causes of death classified by the International Classification of Diseases, Tenth Revision (ICD-10) are ranked according to the number of deaths assigned to rankable causes. Cause-of-death statistics are based on the underlying cause of death. In 2010, the 10 leading causes of death were, in rank order: Diseases of heart; Malignant neoplasms; Chronic lower respiratory diseases; Cerebrovascular diseases; Accidents (unintentional injuries); Alzheimer's disease; Diabetes mellitus; Nephritis, nephrotic syndrome and nephrosis; Influenza and pneumonia; and Intentional self-harm (suicide). These 10 causes accounted for 75% of all deaths occurring in the United States. Differences in the rankings are evident by age, sex, race, and Hispanic origin. Leading causes of infant death for 2010 were, in rank order: Congenital malformations, deformations and chromosomal abnormalities; Disorders related to short gestation and low birth weight, not elsewhere classified; Sudden infant death syndrome; Newborn affected by maternal complications of pregnancy; Accidents (unintentional injuries); Newborn affected by complications of placenta, cord and membranes; Bacterial sepsis of newborn; Respiratory distress of newborn; Diseases of the circulatory system; and Necrotizing enterocolitis of newborn. Important variations in the leading causes of infant death are noted for the neonatal and post-neonatal periods. All material appearing in this report is in the public domain and may be reproduced or copied without permission; citation as to source

Reye Syndrome

MedlinePlus

Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

[Obesity and metabolic syndrome in adolescents].

PubMed

Cárdenas Villarreal, Velia Margarita; Rizo-Baeza, María M; Cortés Castell, Ernesto

2009-03-01

In spite of the lack of a uniform definition for metabolic syndrome in pediatry, recent studies have shown that it develops during childhood and is highly prevalent among children and adolescents who suffer from obesity. In light of the current epidemic of obesity in this age category in western countries, and specifically in Mexico, it becomes essential to know the means to prevent, detect and treat this syndrome. Nurses play an important role in promoting childhood health with regards to metabolic syndrome. To put into practice the strategies which resolve underlying problems related with this syndrome is a priority for the well-being of this age group. These strategies should include the application and management of public policies; the collaboration by health services, social services and schools; but, furthermore, the prevention and the management of this syndrome require a family commitment, while the changes in living habits benefit the entire family. This review article proposes to introduce prevention, diagnostic and treatment strategies which nursing personnel can carry out while dealing with metabolic syndrome in adolescents.

Sudden infant death syndrome (SIDS) and polymorphisms in Monoamine oxidase A gene (MAOA): a revisit.

PubMed

Groß, Maximilian; Bajanowski, Thomas; Vennemann, Mechtild; Poetsch, Micaela

2014-01-01

Literature describes multiple possible links between genetic variations in the neuroadrenergic system and the occurrence of sudden infant death syndrome. The X-chromosomal Monoamine oxidase A (MAOA) is one of the genes with regulatory activity in the noradrenergic and serotonergic neuronal systems and a polymorphism of the promoter which affects the activity of this gene has been proclaimed to contribute significantly to the prevalence of sudden infant death syndrome (SIDS) in three studies from 2009, 2012 and 2013. However, these studies described different significant correlations regarding gender or age of children. Since several studies, suggesting associations between genetic variations and SIDS, were disproved by follow-up analysis, this study was conducted to take a closer look at the MAOA gene and its polymorphisms. The functional MAOA promoter length polymorphism was investigated in 261 SIDS cases and 93 control subjects. Moreover, the allele distribution of 12 coding and non-coding single nucleotide polymorphisms (SNPs) of the MAOA gene was examined in 285 SIDS cases and 93 controls by a minisequencing technique. In contrast to prior studies with fewer individuals, no significant correlations between the occurrence of SIDS and the frequency of allele variants of the promoter polymorphism could be demonstrated, even including the results from the abovementioned previous studies. Regarding the SNPs, three statistically significant associations were observed which had not been described before. This study clearly disproves interactions between MAOA promoter polymorphisms and SIDS, even if variations in single nucleotide polymorphisms of MAOA should be subjected to further analysis to clarify their impact on SIDS.

Stevens-Johnson syndrome in childhood.

PubMed

Blanco, N; Gutiérrez, B; Valls, I; Puertas, D; Martín, C; Rivera, M; Hernández, Á; Torrelo, A

2017-05-01

Stevens-Johnson syndrome and toxic epidermal necrolysis are two serious immune diseases within the context of bullous mucocutaneous syndrome. These have varying degrees of involvement of the skin and usually at least two mucous membranes. Three clinical cases are presented, two of them with significant ophthalmological sequelae, who had received drug treatment as a possible trigger, and another milder clinical case caused by Mycoplasma pneumoniae. The ophthalmologist plays a crucial role in the outcome and eye care of the patient in order to try to avoid the appearance of sequelae and subsequent loss of vision. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

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:…

Insulin Resistance, Metabolic Syndrome, and Polycystic Ovary Syndrome in Obese Youth.

PubMed

Platt, Adrienne M

2015-07-01

School nurses are well aware of the childhood obesity epidemic in the United States, as one in three youth are overweight or obese. Co-morbidities found in overweight or obese adults were not commonly found in youth three decades ago but are now increasingly "normal" as the obesity epidemic continues to evolve. This article is the second of six related articles discussing the co-morbidities of childhood obesity and discusses the complex association between obesity and insulin resistance, metabolic syndrome, and polycystic ovary syndrome. Insulin resistance increases up to 50% during puberty, which may help to explain why youth are more likely to develop co-morbidities as teens. Treatment of these disorders is focused on changing lifestyle habits, as a child cannot change his or her pubertal progression, ethnicity, or family history. School nurses and other personnel can assist youth with insulin resistance, metabolic syndrome, and polycystic ovary syndrome by supporting their efforts to make changes, reinforcing that insulin resistance is not necessarily type 2 diabetes even if the child is taking medication, and intervening with negative peer pressure. © 2015 The Author(s).

Edith Lincoln, an American pioneer of childhood tuberculosis.

PubMed

Donald, Peter R

2013-03-01

Edith Lincoln (1899-1971), one of the most influential American pediatricians to study childhood tuberculosis, managed more than a thousand children from time of tuberculosis infection into adult life. She spoke with authority regarding the prognosis of childhood tuberculosis. Her observations of chemotherapy in children treated with isoniazid led directly to chemoprophylaxis, now of great importance in the management of the human immunodeficiency syndrome.

The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations.

PubMed

Brodwall, Kristoffer; Greve, Gottfried; Leirgul, Elisabeth; Klungsøyr, Kari; Holmstrøm, Henrik; Vollset, Stein Emil; Øyen, Nina

2018-05-01

We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects (CHDs), their associations with extracardiac malformations (ECM) and survival. National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between CHDs and ECM and hazard ratios for death from different combinations of CHDs and ECM. Down syndrome was found in 1672 of 953 450 births (17.6 per 10 000). Of the 1251 live births (13.3 per 10 000), 58% had CHD and 9% ECM. CHDs were associated with oesophageal atresia (p = 0.02) and Hirschsprung's disease (p = 0.03) but with no other malformations. The five-year survival for Down syndrome increased from 91.8% (1994-1999) to 95.8% (2000-2009) (p = 0.006), and overall survival was 92.0% with CHD and 97.4% without. Compared with Down syndrome children without CHD or ECM, the five-year mortality was similar for those with nonsevere CHDs, without or with ECM, but 4-7 times higher in those with severe CHDs without ECM and 13-28 times higher in those with severe CHDs and ECM. Down syndrome childhood survival improved, but mortality remained high with severe CHDs and extracardiac defects. ©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Teaching Students with Childhood Cancer: It's More than Just the Disease

ERIC Educational Resources Information Center

Losinski, Mickey; Ennis, Robin Parks

2018-01-01

Childhood cancers are the second leading cause of death among children. Common childhood cancers include leukemia (34%), brain tumors (23%), and lymphomas (12%; Kaatsch, 2010). Fortunately, survival rates related to these diseases have been increasing (Phillips et al., 2015). There are approximately 388,500 survivors of childhood cancers, with…

Protein metabolism in severe childhood malnutrition

USDA-ARS?s Scientific Manuscript database

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...

[Determination of irreversibility of clinical brain death. Electroencephalography and evoked potentials].

PubMed

Buchner, H; Ferbert, A

2016-02-01

Principally, in the fourth update of the rules for the procedure to finally determine the irreversible cessation of function of the cerebrum, the cerebellum and the brainstem, the importance of an electroencephalogram (EEG), somatosensory evoked potentials (SEP) and brainstem auditory evoked potentials (BAEP) are confirmed. This paper presents the reliability and validity of the electrophysiological diagnosis, discusses the amendments in the fourth version of the guidelines and introduces the practical application, problems and sources of error.An EEG is the best established supplementary diagnostic method for determining the irreversibility of clinical brain death syndrome. It should be noted that residual brain activity can often persist for many hours after the onset of brain death syndrome, particularly in patients with primary brainstem lesions. The derivation and analysis of an EEG requires a high level of expertise to be able to safely distinguish artefacts from primary brain activity. The registration of EEGs to demonstrate the irreversibility of clinical brain death syndrome is extremely time consuming.The BAEPs can only be used to confirm the irreversibility of brain death syndrome in serial examinations or in the rare cases of a sustained wave I or sustained waves I and II. Very often, an investigation cannot be reliably performed because of existing sound conduction disturbances or failure of all potentials even before the onset of clinical brain death syndrome. This explains why BAEPs are only used in exceptional cases.The SEPs of the median nerve can be very reliably derived, are technically simple and with few sources of error. A serial investigation is not required and the time needed for examination is short. For these reasons SEPs are given preference over EEGs and BAEPs for establishing the irreversibility of clinical brain death syndrome.

Nicotine and cotinine in infants dying from sudden infant death syndrome.

PubMed

Bajanowski, T; Brinkmann, B; Mitchell, E A; Vennemann, M M; Leukel, H W; Larsch, K-P; Beike, J

2008-01-01

The aim of this component of the German Study on Sudden Infant Death was to determine (1) nicotine concentrations in hair (NCH), as a marker of long standing exposure to tobacco, (2) cotinine concentrations in pericardial fluid (CCP) and (3) cotinine concentrations in liquor cerebrospinalis (CCL), the latter measures being markers of recent exposure to tobacco in the last few hours of life. The results obtained were compared with data on parental smoking revealed from interviews. In 100 cases of sudden infant death syndrome, material was taken at autopsy to determine NCH. In 41 cases, NCH and CCP, and in 70 cases, NCH and CCL were determined. Infants of mothers who stated having smoked during pregnancy had higher NCH than infants of non-smoking mothers (p = 0.008). Furthermore, there was a weak but statistically significant relationship between NCH's and the daily cigarette consumption of the mother during pregnancy (n = 64, r = 0.24, p = 0.05). In 43% of infants, nicotine could be detected in their hair, although the mothers had said at the interview that they did not smoke during pregnancy. On the other hand, in 33% of infants whose mother stated they had smoked during pregnancy nicotine was not detectable in the infant's hair. CCP's were strongly correlated with CCL's (r = 0.62, p = 0.0027). For this reason, both parameters were treated as equivalent for the detection of tobacco smoke exposure in the last hours before death. The influence of breast-feeding was evaluated by comparison of the nicotine concentrations in breast fed and non-breast-fed infants from smokers and non-smokers. Fivefold higher nicotine concentrations were determined in non-breast-fed infants of parents who smoked as compared to all other groups. It can be concluded that nicotine intake by passive smoking is much more important than by breast-feeding. We conclude that both interview data and biochemical measures should be sought to understand the true exposure to tobacco smoke.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

PubMed

Männikkö, Roope; Wong, Leonie; Tester, David J; Thor, Michael G; Sud, Richa; Kullmann, Dimitri M; Sweeney, Mary G; Leu, Costin; Sisodiya, Sanjay M; FitzPatrick, David R; Evans, Margaret J; Jeffrey, Iona J M; Tfelt-Hansen, Jacob; Cohen, Marta C; Fleming, Peter J; Jaye, Amie; Simpson, Michael A; Ackerman, Michael J; Hanna, Michael G; Behr, Elijah R; Matthews, Emma

2018-04-14

Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome. SCN4A variants have also been found in infants with life-threatening apnoea and laryngospasm. We therefore hypothesised that rare, functionally disruptive SCN4A variants might be over-represented in infants who died from SIDS. We did a case-control study, including two consecutive cohorts that included 278 SIDS cases of European ancestry and 729 ethnically matched controls without a history of cardiovascular, respiratory, or neurological disease. We compared the frequency of rare variants in SCN4A between groups (minor allele frequency <0·00005 in the Exome Aggregation Consortium). We assessed biophysical characterisation of the variant channels using a heterologous expression system. Four (1·4%) of the 278 infants in the SIDS cohort had a rare functionally disruptive SCN4A variant compared with none (0%) of 729 ethnically matched controls (p=0·0057). Rare SCN4A variants that directly alter NaV1.4 function occur in infants who had died from SIDS. These variants are predicted to significantly alter muscle membrane excitability and compromise respiratory and laryngeal function. These findings indicate that dysfunction of muscle sodium channels is a potentially modifiable risk factor in a subset of infant sudden deaths. UK Medical Research Council, the Wellcome Trust, National Institute for Health Research, the British Heart Foundation, Biotronik, Cardiac Risk in the Young, Higher Education Funding Council for England, Dravet Syndrome UK, the Epilepsy Society, the Eunice Kennedy

Beyond childhood: psychiatric comorbidities and social background of adults with Asperger syndrome.

PubMed

Roy, Mandy; Prox-Vagedes, Vanessa; Ohlmeier, Martin D; Dillo, Wolfgang

2015-03-01

Over the past few years, our knowledge about Asperger syndrome (AS) has increased enormously. Although it used to be a syndrome mainly encountered in childhood and adolescent psychiatry, it is now increasingly recognized in adult psychiatry. Nevertheless, little is known about psychiatric comorbidities and life course of adults with AS. The current study aimed to gain an insight into comorbidities and the development of the social situation of adults with AS. We investigated psychiatric comorbidities, psychiatric history, professional background, partnerships, and children in 50 adults with AS (34 men and 16 women) over a broad age range (20-62 years). Seventy percent of adults with AS had at least one psychiatric comorbiditiy. Most frequent comorbidities were depression and anxiety disorders. Obsessive-compulsive disorder and alcohol abuse/dependence were also observed. Many adults had previously been treated with psychopharmacological or psychotherapeutic interventions. Although most adults had a high-level school leaving certificate and had gone on to complete training/university studies, less than half were currently in employment. Fourteen adults were living in a partnership and 10 had children. Adults with AS often have psychiatric comorbidities, indicating lower levels of mental health. Additionally, they seem to have severe limitations concerning professional success, despite having a good school education. Their family situation is also impaired with regard to starting a family. These considerable limitations in the life of adults with AS may help to understand their specific problems, and emphasize the importance of developing specific treatments for improving their mental health and social integration.

Late Mortality Among 5-Year Survivors of Childhood Cancer: A Summary From the Childhood Cancer Survivor Study

PubMed Central

Armstrong, Gregory T.; Liu, Qi; Yasui, Yutaka; Neglia, Joseph P.; Leisenring, Wendy; Robison, Leslie L.; Mertens, Ann C.

2009-01-01

The Childhood Cancer Survivor Study (CCSS) has assembled the largest cohort to date for assessment of late mortality. Vital status and cause of death of all patients eligible for participation in CCSS was determined using the National Death Index and death certificates to characterize the mortality experience of 20,483 survivors, representing 337,334 person-years of observation. A total of 2,821 deaths have occurred as of December 31, 2002. The overall cumulative mortality is 18.1% (95% CI, 17.3 to 18.9) at 30 years from diagnosis. With time, while all-cause mortality rates have been stable, the pattern of late death is changing. Mortality attributable to recurrence or progression of primary disease is decreasing, with increases in rates of mortality attributable to subsequent neoplasms (standardized mortality ratios [SMR], 15.2; 95% CI, 13.9 to 16.6), cardiac death (SMR, 7.0; 95% CI, 5.9 to 8.2), and pulmonary death (SMR, 8.8; 95% CI, 6.8 to 11.2) largely due to treatment-related causes. In addition, the CCSS has identified specific treatment-related risk factors for late mortality. Radiotherapy (relative risk [RR], 2.9; 95% CI, 2.1 to 4.2), alkylating agents (RR, 2.2; 95% CI, 1.6 to 3.0), and epipodophyllotoxins (RR, 2.3; 95% CI, 1.2 to 4.5) increase the risk of death due to subsequent malignancy. Cardiac radiation exposure (RR, 3.3; 95% CI, 2.0 to 5.5) and high dose of anthracycline exposure (RR, 3.1; 95% CI, 1.6 to 5.8) are associated with late cardiac death. By continued longitudinal follow-up of the cohort and expansion of the cohort to include patients diagnosed between 1987 and 1999, the CCSS will remain a primary resource for assessment of late mortality of survivors of childhood cancers. PMID:19332714

Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

PubMed

Fernández-Falgueras, Anna; Sarquella-Brugada, Georgia; Brugada, Josep; Brugada, Ramon; Campuzano, Oscar

2017-01-29

Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia). This review focuses on cardiac channelopathies, which are characterized by lethal arrhythmias in the structurally normal heart, incomplete penetrance, and variable expressivity. Arrhythmias in these diseases result from pathogenic variants in genes encoding cardiac ion channels or associated proteins. Due to a lack of gross structural changes in the heart, channelopathies are often considered as potential causes of death in otherwise unexplained forensic autopsies. The asymptomatic nature of channelopathies is cause for concern in family members who may be carrying genetic risk factors, making the identification of these genetic factors of significant clinical importance.

Frasier syndrome with childhood-onset renal failure.

PubMed

Buzi, F; Mella, P; Pilotta, A; Felappi, B; Camerino, G; Notarangelo, L D

2001-01-01

The Wilms' tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor activities. Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome). SUBJECT/METHOD: A 25-year-old phenotypic female with a 46,XY karyotype presented with amenorrhoea. An ultrasound scan showed streak gonads and a rudimentary uterus. The patient had a history of post-streptococcal glomerulonephrosis, when aged 4 years, which had rapidly progressed to kidney failure, requiring transplantation at age 8. Frasier syndrome was suspected and confirmed by genetic analysis. In fact, direct sequencing of the PCR product of the intron 9 donor splice site revealed a substitution of guanine for adenine in position +5. Besides being one of the few Frasier syndrome cases to be genetically characterized, this case is interesting because of the unusually early-onset renal failure. Copyright 2001 S. Karger AG, Basel

[Importance of breastfeeding in the prevalence of metabolic syndrome and degree of childhood obesity].

PubMed

de Armas, María Guadalupe Guijarro; Megías, Susana Monereo; Modino, Soralla Civantos; Bolaños, Paloma Iglesias; Guardiola, Patricia Díaz; Alvarez, Teresa Montoya

2009-10-01

To evaluate the relationship between breastfeeding and the prevalence of obesity and metabolic syndrome in a group of obese children and adolescents. We performed a retrospective study in obese children and adolescents treated at the Endocrinology and Nutrition Service of the Hospital de Getafe (Madrid). The variables studied were age, sex, height, weight, body mass index (BMI), waist circumference, waist-height ratio, blood pressure, triglycerides, high-density lipoprotein and fasting glucose. Information was also collected on food received in the first months of life. Breastfeeding was defined as feeding with maternal milk for at least 3 months. The SPSS v.15 statistical package was used. A total of 126 patients with obesity were recruited (71 boys and 55 girls) with a mean age of 11.94 +/- 3.12 years. Of these, 117 (92.86%) were morbidly obese (BMI > 97th percentile for age and sex). All patients had a waist circumference > 90th percentile for age and sex. Of the 126 patients evaluated, 36.8% were breastfed for more than 3 months and 63.2% were fed with artificial milk only. Compared with patients fed with artificial milk, those who were breast fed had a lower BMI (31.53 +/- 5.77 vs 32.08 +/- 6.78) and lower waist circumference (95.02 +/- 3.4 vs. 95.69 +/- 3.2 cm), although this difference was not statistically significant. The prevalence of metabolic syndrome in the study population was 19.8%. Within this group, 64% had not been breast fed compared with 36% who had been fed with artificial milk. Breast feeding for at least 3 months was associated with lower levels of obesity, smaller waist circumference and fewer complications related to metabolic syndrome in childhood and adolescence. Sixty-four percent of children with complete metabolic syndrome had received artificial feeding. Further studies are needed to ascertain the impact of breastfeeding on the development of obesity and cardiometabolic risk.

Does Particulate Air Pollution Contribute to Infant Death? A Systematic Review

PubMed Central

Glinianaia, Svetlana V.; Rankin, Judith; Bell, Ruth; Pless-Mulloli, Tanja; Howel, Denise

2004-01-01

There is now substantial evidence that both short- and long-term increases in ambient air pollution are associated with increased mortality and morbidity in adults and children. Children’s health is particularly vulnerable to environmental pollution, and infant mortality is still a major contributor to childhood mortality. In this systematic review we summarize and evaluate the current level of epidemiologic evidence of an association between particulate air pollution and infant mortality. We identified relevant publications using database searches with a comprehensive list of search terms and other established search methods. We included articles in the review according to specified inclusion criteria. Fifteen studies met our inclusion criteria. Evidence of an association between particulate air pollution and infant mortality in general was inconsistent, being reported from locations with largely comparable pollution levels. There was some evidence that the strength of association with particulate matter differed by subgroups of infant mortality. It was more consistent for post-neonatal mortality due to respiratory causes and sudden infant death syndrome. Differential findings for various mortality subgroups within studies suggest a stronger association of particulate air pollution with some causes of infant death. Research is needed to confirm and clarify these links, using the most appropriate methodologies for exposure assessment and control of confounders. PMID:15471726

The Most Prevalent Causes of Deaths, DALYs, and Geriatric Syndromes in Iranian Elderly People Between 1990 and 2010: findings from the Global Burden of Disease study 2010.

PubMed

Namazi Shabestari, Alireza; Saeedi Moghaddam, Sahar; Sharifi, Farshad; Fadayevatan, Reza; Nabavizadeh, Fatemeh; Delavari, Alireza; Jamshidi, Hamid Reza; Naderimagham, Shohreh

2015-08-01

The substantial increase in life expectancy during recent decades has left all countries with a high number of elderly people that have particular health needs. Health policy-makers must be aware of the most prevalent causes of deaths and DALYs in this age group, as well as geriatric syndromes, in order to provide appropriate care and allocate resources in an equitable manner. The Global Burden of Disease study 2010 (GBD 2010), conducted by the institute for Health Metrics and Evaluation team, estimated the worldwide burden of diseases from 1990 to 2010. Its estimations were conducted on the basis of the proportion of deaths, the duration of symptoms and disability weights for sequelae, years lived with disability (YLDs), years of life lost (YLLs), and disability adjusted life years (DALYs) attributable to different diseases. In the present study, we extracted the data regarding the top five most prevalent causes of deaths, DALYs, and geriatric syndromes in the elderly based on the aforementioned GBD 2010, discussed the results using some tables and figures, reviewed the results, described the limitations of GBD 2010, and finally provided some recommendations as potential solutions. According to GBD 2010, the total number of deaths in Iran in 1990 was 321,627, of which 116,100 were in elderly people (those aged 60 years and above), meaning that 36.10% of all deaths occurred in the elderly. Among all diseases in this year, the first to third ranked causes of death were ischemic heart disease (IHD; 29.44%), neoplasms (13.52%), and stroke (7.24%). In comparison, the total number of deaths in Iran increased to 351,814 in 2010, with 213,116 of these occurring in the elderly (60.58% of deaths), but the most prevalent causes of death remained the same as in 1990. The highest 1990 DALYs rates were the result of IHD (21.56%), neoplasms (10.70%), and stroke (4.85%). IHD (22.77%), neoplasms (9.48%), and low back pain (LBP; 5.72%) were the most prevalent causes of DALYs in

Infection and acute respiratory distress syndrome during pregnancy: a case series of preventable maternal deaths from southern India.

PubMed

Vasudeva, Akhila; Bhat, Rajeshwari G; Ramachandran, Amar; Kumar, Pratap

2013-02-01

Acute respiratory distress syndrome (ARDS) is common among women admitted to obstetric intensive care units, and it contributes significantly, both directly and indirectly, to maternal deaths. We present a case series of ARDS in pregnant women caused by non-obstetric causes. The women were treated at a tertiary hospital in southern India. The striking features were delayed referral from the primary care unit and the lack of a primary diagnosis or treatment. Undiagnosed rheumatic heart disease, anemia, and malaria and H1N1 epidemics contributed to these cases of ARDS and maternal death. It is necessary to increase the awareness of evidence-based uniform protocols to tackle common medical complaints during pregnancy. Copyright © 2012 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

Sudden infant death syndrome: no significant expression of heat-shock proteins (HSP27, HSP70).

PubMed

Doberentz, Elke; Führing, Sarah; Madea, Burkhard

2016-03-01

In industrialized countries, sudden infant death is the most common cause of death in young children. Although prone sleeping position is a well-known risk factor, hyperthermia might also be important. Pathognomonic findings of premortem hyperthermia do not exist. During stress, including thermal effects, heat-shock protein (HSP) expression increases. This study investigated hyperthermia as a contributing or pathogenic factor for sudden infant death syndrome (SIDS). Immunohistochemical staining for HSP27 and HSP70 in the kidney, heart, and lung from 120 SIDS cases was examined. HSP70 immunostaining was negative in kidney, heart, and lung tissues in all cases and in tissues from the control group. HSP27 staining was positive in the kidney from one case, and was positive in the lungs (respiratory epithelia in 27% of cases; vascular endothelia in 19% of cases) and was negative in the heart. In the control group HSP27 was positive in 8% of renal tubular tissues and in 29% of renal vascular endothelia. Staining for HSP27 in lung tissues was positive in respiratory epithelia in 8% of cases and for vascular endothelia in 29%, whereas tissues from the heart were positive in only 4%. The hypothesis of hyperthermia being a pathogenic factor for SIDS was not supported by immunohistochemical visualization of HSP70 or HSP27.

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

PubMed

Ilenčíková, D

2012-01-01

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.

Childhood fitness reduces the long-term cardiometabolic risks associated with childhood obesity.

PubMed

Schmidt, M D; Magnussen, C G; Rees, E; Dwyer, T; Venn, A J

2016-07-01

The objective of this study was to examine whether childhood cardiorespiratory fitness attenuates or modifies the long-term cardiometabolic risks associated with childhood obesity. The study consisted of a 20-year follow-up of 1792 adults who participated in the 1985 Australian Schools Health and Fitness Survey when they were 7-15 years of age. Baseline measures included a 1.6-km run to assess cardiorespiratory fitness and waist circumference to assess abdominal adiposity. At follow-up, participants attended study clinics where indicators of Metabolic Syndrome (MetS) (waist circumference, blood pressure, fasting blood glucose and lipids) were measured and cardiorespiratory fitness was reassessed using a submaximal graded exercise test. Both high waist circumference and low cardiorespiratory fitness in childhood were significant independent predictors of MetS in early adulthood. The mutually adjusted relative risk of adult MetS was 3.00 (95% confidence interval: 1.85-4.89) for children in the highest (vs lowest) third of waist circumference and 0.64 (95% confidence interval: 0.43-0.96) for children with high (vs low) cardiorespiratory fitness. No significant interaction between waist circumference and fitness was observed, with higher levels of childhood fitness associated with lower risks of adult MetS among those with either low or high childhood waist circumference values. Participants who had both high waist circumference and low cardiorespiratory fitness in childhood were 8.5 times more likely to have MetS in adulthood than those who had low waist circumference and high cardiorespiratory fitness in childhood. Regardless of childhood obesity status, participants with low childhood fitness who increased their relative fitness by adulthood had a substantially lower prevalence of MetS than those who remained low fit. Childhood waist circumference and cardiorespiratory fitness are both strongly associated with cardiometabolic health in later life. Higher levels of

A Rare Case of Acute Coronary Syndrome in a Patient With Turner Syndrome.

PubMed

Kemaloglu, Tugba; Ozer, Nihat; Fikri Yapici, Mehmet

2016-05-01

In Turner syndrome, cardiovascular complications are the most important causes of early mortality. Congenital cardiovascular abnormalities are found in approximately one third of Turner syndrome patients. Developments in diagnosis and treatment have decreased the rate of mortality related to these abnormalities. In recent years, many papers have mentioned that coronary artery disease developing at early ages in patients with Turner syndrome causes sudden deaths. The patient, a 27-year-old female was admitted to the emergency room with chest pain at rest. She was diagnosed with Turner Syndrome in her teenage years due to amenorrhea. Patients with ECG changes and cardiac enzyme elevations were treated with acute coronary syndrome. The young woman with Turner Syndrome have several risk factors for early Coronary Artery Disease development. In such cases, dramatic results like sudden death or heart attack at an early age may occur in cases of insufficient follow-up and treatment.

Waist-to-Height Ratio: a simple, effective and practical screening tool for childhood obesity and metabolic syndrome.

PubMed

Zhou, Dan; Yang, Min; Yuan, Zhe-Ping; Zhang, Dan-Dan; Liang, Li; Wang, Chun-Lin; Zhang, Shuai; Zhu, Hong-Hong; Lai, Mao-De; Zhu, Yi-Min

2014-10-01

This study aimed to evaluate the diagnostic value of Waist-to-Height Ratio in early detection of obesity and metabolic syndrome in Chinese children and adolescents. A cross-sectional study was conducted in six cities in China in 2010 with 16,914 children and adolescents aged 7-17 years. Participants were randomly divided into the training and testing sets. Diagnostic values were estimated using sensitivity, specificity and areas under receiver operating characteristic curves. The coefficients of variation of Waist-to-Height Ratio among age groups were lower than that of body mass index and waist circumstance. The area under receiver operating characteristic curve of Waist-to-Height Ratio was 0.968 in boys and 0.949 in girls for general obesity evaluation, and 0.983 in boys and 0.984 in girls for central obesity. The optimal cut-offs of Waist-to-Height Ratio were 0.47 in boys and 0.45 in girls in the training set and validated in the testing set. For metabolic syndrome evaluation, the sensitivity and specificity were 0.858 and 0.825 in boys, 0.864 and 0.812 in girls under the suggested cut-offs. Waist-to-Height Ratio was a simple, effective and practical tool for mass screening childhood obesity and metabolic syndrome in China. It will have potential values in public health practice. Copyright © 2014 Elsevier Inc. All rights reserved.

Childhood Bereavement and Lower Stress Resilience in Late Adolescence.

PubMed

Kennedy, Beatrice; Chen, Ruoqing; Valdimarsdóttir, Unnur; Montgomery, Scott; Fang, Fang; Fall, Katja

2018-04-30

Although childhood traumatic experiences are recognized as important determinants for adolescent psychiatric health in general, our objective was to explore the specific influence of childhood bereavement on the stress resilience development trajectory. In this national register-based cohort study, we identified 407,639 men born in Sweden between 1973 and 1983, who underwent compulsory military enlistment examinations in late adolescence, including measures of psychological stress resilience. We defined exposure as loss of a first-degree family member in childhood, and estimated relative risk ratios (RRRs) for reduced (moderate or low), compared with high, stress resilience with 95% confidence intervals (CIs) using multinomial logistic regression. Loss of a parent or sibling in childhood conferred a 49% increased risk of subsequent low stress resilience (RRR, 1.49, 95% CI, 1.41-1.57) and an 8% increased risk of moderate stress resilience (RRR, 1.08, 95% CI, 1.03-1.13) in late adolescence. There was also a graded increase in risk with increasing age at loss; teenagers were at higher risk for low resilience (RRR, 1.64, 95% CI, 1.52-1.77) than children aged 7-12 (RRR, 1.47, 95% CI, 1.34-1.61) and ≤6 years (RRR, 1.16 95% CI, 1.02-1.32). The excess risk was observed for all causes of death, including suicide and unexpected deaths as well as deaths due to other illnesses. The associations remained after exclusion of parents with a history of hospitalization for psychiatric diagnoses. The long-term consequences of childhood bereavement may include lower stress resilience in late adolescence. Copyright © 2018 The Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.

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

PubMed

Sauer, Charles W; Marc-Aurele, Krishelle L

2016-07-28

BACKGROUND This is a case of a neonate with susceptibility to long QT syndrome (LQTS) who presented with a sudden unexpected infant death. Experts continue to debate whether universal electrocardiogram (ECG) screening of all newborns is feasible, practical, and cost-effective. CASE REPORT A 19-day-old neonate was found unresponsive by her mother. ECG showed ventricular fibrillation and a combination of a lidocaine drip plus multiple defibrillations converted the rhythm to normal sinus. Unfortunately, MRI brain imaging showed multiple infarcts and EEG showed burst suppression pattern with frequent seizures; life supportive treatment was stopped and the infant died. Genetic testing revealed two mutations in the KCNE2 gene consistent with susceptibility to LQTS type 6. CONCLUSIONS We believe this case is the first to demonstrate both a precipitating electrocardiographic and genetic cause of death for an infant with LQTS, showing a cause-and-effect relationship between LQTS mutation, ventricular arrhythmia, and death. We wonder whether universal ECG newborn screening to prevent LQTS death could have saved this baby.

Cyclophosphamide and Busulfan Followed by Donor Stem Cell Transplant in Treating Patients With Myelofibrosis, Acute Myeloid Leukemia, or Myelodysplastic Syndrome

ClinicalTrials.gov

2017-12-01

Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Childhood Acute Myeloid Leukemia in Remission; Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Essential Thrombocythemia; Myelodysplastic Syndrome With Isolated Del(5q); Polycythemia Vera; Previously Treated Myelodysplastic Syndromes; Primary Myelofibrosis; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes; Secondary Myelofibrosis; Untreated Adult Acute Myeloid Leukemia; Untreated Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies

Chronic lung disease of prematurity and early childhood wheezing: is foetal inflammatory response syndrome to blame?

PubMed

Dessardo, Nada Sindičić; Dessardo, Sandro; Mustać, Elvira; Banac, Srđan; Petrović, Oleg; Peter, Branimir

2014-09-01

Long-lasting respiratory symptoms have a huge impact on the quality of life in prematurely born children. We aimed to investigate the perinatal and maternal risk factors involved in the development of chronic respiratory morbidity in preterm infants, with an emphasis on the importance of Foetal Inflammatory Response Syndrome (FIRS). Prospective cohort study. Demographic, antenatal, delivery and outcomes data were collected from 262 infants with less than 32 completed weeks of gestational age, over a 10-year period. Presence of chronic lung disease of prematurity and early childhood wheezing. In multivariate logistic regression analysis the presence of FIRS appears to be the most important risk factor for both, chronic lung disease of prematurity (OR 31.05, 95% CI 10.7-87.75, p<0.001) and early childhood wheezing (OR 5.63, 95% CI 2.42-13.05, p=0.01). In the alternative regression model for early childhood wheezing, with chronic lung disease included as a variable, the statistical significance of FIRS completely vanished (OR 1.15, 95% CI 0.39-3.34, p=0.79), whilst chronic lung disease became the most important risk factor (OR 23.45, 95% CI 8.5-63.25, p<0.001). Prenatal and early neonatal events are of utmost importance in the development of chronic respiratory symptoms in children. The influence of FIRS on the development of chronic respiratory symptoms goes far beyond its impact on gestational age and may be related to direct inflammation-mediated lung tissue damage. CLD appears to be an intermittent step on the way from FIRS to ECW. Copyright © 2014 Elsevier Ltd. All rights reserved.

Trends in causes of death among persons with acquired immunodeficiency syndrome in the era of highly active antiretroviral therapy, San Francisco, 1994-1998.

PubMed

Louie, Janice K; Hsu, Ling Chin; Osmond, Dennis H; Katz, Mitchell H; Schwarcz, Sandra K

2002-10-01

To understand recent temporal trends in acquired immunodeficiency syndrome (AIDS) mortality in the era of highly active antiretroviral therapy (HAART), trends in causes of death among persons with AIDS in San Francisco who died between 1994 and 1998 were analyzed. Among 5234 deaths, the mortality rate for human immunodeficiency virus (HIV)-related or AIDS-related deaths declined after 1995 (P<.01), whereas the mortality rate for non-HIV- or non-AIDS-related deaths remained stable. The proportion of deaths of persons with AIDS associated with septicemia, non-AIDS-defining malignancy, chronic liver disease, viral hepatitis, overdose, obstructive lung disease, coronary artery disease, and pancreatitis increased (P<.05). The standardized mortality ratio was high for these causes in both pre- and post-HAART periods, except for pancreatitis, a possible complication of HAART, which demonstrated an increasing standardized mortality ratio trend after 1996. With increasing AIDS survival, prevention of chronic diseases, assessment of long-term toxicity from HAART, and surveillance for additional causes of mortality will become increasingly important.

Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

PubMed

Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

2017-06-01

Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

Sudden infant death syndrome: a crisis for parents and health professionals.

PubMed

Powell, M

1991-09-01

A study of the social impact of Sudden Infant Death Syndrome (SIDS) in 40 families in Ireland (40 mothers: 29 fathers and 78 siblings) revealed a profound influence on family function. Less than half the parents felt an acceptance of the loss at a mean interim of 2.9 years post SIDS. Family dysfunction was manifested by marital problems and prolonged grief reactions. Interpersonal support through family, friends, relatives or neighbours appropriately assisted a third of families. Medical information when provided to parents contributed to a more normal grief process, but lack of postmortem information contributed to pathological or unresolved guilt in a third of parents and anger in nearly half the sample. Health professional and voluntary aftercare at community level was inconsistent in meeting parents' need for information, advice and support. A primary, preventive health care approach, based on a co-ordinated policy of aftercare to SIDS families, at hospital and community level is recommended to facilitate parents' resolution of grief, and counteract the onset of adverse psychosocial effects.

Asperger syndrome related suicidal behavior: two case studies.

PubMed

Kocourkova, Jana; Dudova, Iva; Koutek, Jiri

2013-01-01

Asperger syndrome hinders adaptation to developmental challenges during childhood and adolescence, particularly with regard to interpersonal relationships. Individuals with Asperger syndrome display lack of empathy and limited ability to understand social and emotional exchanges with other people. Individuals with Asperger syndrome are significantly exposed to the risk of suicidal behavior, especially during adolescence. The authors describe cases of suicidal behavior in two adolescent boys with Asperger syndrome.

Childhood Thyroid Cancer Treatment (PDQ®)—Health Professional Version

Cancer.gov

Childhood thyroid cancer usually presents as a thyroid mass with or without painless cervical adenopathy. It may occur as part of a tumor predisposition syndrome such as multiple endocrine neoplasia or DICER1 syndrome. Get detailed information about the risk factors, histopathology, molecular features, presentation, diagnostic evaluation, and treatment of papillary, follicular, and medullary thyroid cancer in this summary for clinicians.

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

ERIC Educational Resources Information Center

Jokela, Markus; Ferrie, Jane; Kivimaki, Mika

2009-01-01

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

Death of family members as an overlooked source of racial disadvantage in the United States

PubMed Central

Olson, Julie Skalamera; Crosnoe, Robert; Liu, Hui; Pudrovska, Tetyana; Donnelly, Rachel

2017-01-01

Long-standing racial differences in US life expectancy suggest that black Americans would be exposed to significantly more family member deaths than white Americans from childhood through adulthood, which, given the health risks posed by grief and bereavement, would add to the disadvantages that they face. We analyze nationally representative US data from the National Longitudinal Study of Youth (n = 7,617) and the Health and Retirement Study (n = 34,757) to estimate racial differences in exposure to the death of family members at different ages, beginning in childhood. Results indicate that blacks are significantly more likely than whites to have experienced the death of a mother, a father, and a sibling from childhood through midlife. From young adulthood through later life, blacks are also more likely than whites to have experienced the death of a child and of a spouse. These results reveal an underappreciated layer of racial inequality in the United States, one that could contribute to the intergenerational transmission of health disadvantage. By calling attention to this heightened vulnerability of black Americans, our findings underscore the need to address the potential impact of more frequent and earlier exposure to family member deaths in the process of cumulative disadvantage. PMID:28115712

Death of family members as an overlooked source of racial disadvantage in the United States.

PubMed

Umberson, Debra; Olson, Julie Skalamera; Crosnoe, Robert; Liu, Hui; Pudrovska, Tetyana; Donnelly, Rachel

2017-01-31

Long-standing racial differences in US life expectancy suggest that black Americans would be exposed to significantly more family member deaths than white Americans from childhood through adulthood, which, given the health risks posed by grief and bereavement, would add to the disadvantages that they face. We analyze nationally representative US data from the National Longitudinal Study of Youth (n = 7,617) and the Health and Retirement Study (n = 34,757) to estimate racial differences in exposure to the death of family members at different ages, beginning in childhood. Results indicate that blacks are significantly more likely than whites to have experienced the death of a mother, a father, and a sibling from childhood through midlife. From young adulthood through later life, blacks are also more likely than whites to have experienced the death of a child and of a spouse. These results reveal an underappreciated layer of racial inequality in the United States, one that could contribute to the intergenerational transmission of health disadvantage. By calling attention to this heightened vulnerability of black Americans, our findings underscore the need to address the potential impact of more frequent and earlier exposure to family member deaths in the process of cumulative disadvantage.

[Norrie syndrome (author's transl)].

PubMed

Schmitz-Valckenberg, P; Scholz, W

1977-10-01

The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

Disease Beyond the Arch: A Systematic Review of Middle Aortic Syndrome in Childhood.

PubMed

Rumman, Rawan K; Nickel, Cheri; Matsuda-Abedini, Mina; Lorenzo, Armando J; Langlois, Valerie; Radhakrishnan, Seetha; Amaral, Joao; Mertens, Luc; Parekh, Rulan S

2015-07-01

Middle aortic syndrome (MAS) is a rare clinical entity in childhood, characterized by a severe narrowing of the distal thoracic and/or abdominal aorta, and associated with significant morbidity and mortality. MAS remains a relatively poorly defined disease. This paper systematically reviews the current knowledge on MAS with respect to etiology, clinical impact, and therapeutic options. A systematic search of 3 databases (Embase, MEDLINE, and Cochrane Central Register of Controlled Trials) yielded 1,252 abstracts that were screened based on eligibility criteria resulting in 184 full-text articles with 630 reported cases of childhood MAS. Data extracted included patient characteristics, clinical presentation, vascular phenotype, management, and outcomes. Most cases of MAS are idiopathic (64%), 15% are associated with Mendelian disorders, and 17% are related to inflammatory diseases. Extra-aortic involvement including renal (70%), superior mesenteric (30%), and celiac (22%) arteries is common, especially among those with associated Mendelian disorders. Inferior mesenteric artery involvement is almost never reported. The majority of cases (72%) undergo endovascular or surgical management with residual hypertension reported in 34% of cases, requiring medication or reintervention. Clinical manifestations and extent of extra-aortic involvement are lacking. MAS presents with significant involvement of visceral arteries with over two thirds of cases having renal artery stenosis, and one third with superior mesenteric artery stenosis. The extent of disease is worse among those with genetic and inflammatory conditions. Further studies are needed to better understand etiology, long-term effectiveness of treatment, and to determine the optimal management of this potentially devastating condition. © American Journal of Hypertension, Ltd 2015. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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. Copyright © 2015 Elsevier Inc. All rights reserved.

Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence.

PubMed

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

2009-12-01

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). Sixty-four high-functioning children with ASD were ascertained at 4-6 years of age from several different regional diagnostic and treatment centers. At 6-8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6-8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization. Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills. Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.

Childhood injuries in Ilesa, South-Western Nigeria: causes, pattern, and outcome.

PubMed

Adegoke, S A; Ademola, A S; Dedeke, I O F; Oyelami, O A

2010-01-01

In Sub-Saharan Africa, infections and undernutrition are the leading causes of childhood death; however injuries are now contributing significantly to childhood morbidity and mortality. To determine the aetiology, morbidity and mortality associated with injuries in children in South-Western Nigeria. This was an observational cross-sectional study of consecutive childhood injury attendances and admissions into the hospital's Children Emergency Room (CHER) over a one-year period. Socio-demographic data as well as the data on the cause, site, and possible risks of injury; parts of the body affected and eventual outcome of the patients were documented. Injury accounted for 382 (10.6%) of the 3,604 attendances, 142 (11.9%) of 1193 admissions and 11 (20.4%) of 54 deaths in CHER. Their ages ranged from six weeks to 15 years, with a mean (SD) of 6.7 (3.9) years, and a male:female ratio of 1.6:1. Road traffic accidents, 130 (34.0%), were the most common cause, followed by falls 119 (31.2%), cuts 44 (11.5%), bits 26 (6.8%), and burns 24 (6.3%). Injuries occurred mostly at home 154 (40.1%), on the road 142 (37.4%), and at school 59 (15.2%). Lack of supervision and/or poor anticipation of potential dangers were the leading risks associated with childhood injuries. Injuries contribute significantly to childhood deaths in South-Western Nigeria. A well-orchestrated public enlightenment programme to improve home, school, and road supervision of children as well as concerted efforts to make these places safer could help ameliorate the situation.

Risks of Death and Severe Disease in Patients With Middle East Respiratory Syndrome Coronavirus, 2012-2015.

PubMed

Rivers, Caitlin M; Majumder, Maimuna S; Lofgren, Eric T

2016-09-15

Middle East respiratory syndrome coronavirus (MERS-CoV) is an emerging pathogen, first recognized in 2012, with a high case fatality risk, no vaccine, and no treatment beyond supportive care. We estimated the relative risks of death and severe disease among MERS-CoV patients in the Middle East between 2012 and 2015 for several risk factors, using Poisson regression with robust variance and a bootstrap-based expectation maximization algorithm to handle extensive missing data. Increased age and underlying comorbidity were risk factors for both death and severe disease, while cases arising in Saudi Arabia were more likely to be severe. Cases occurring later in the emergence of MERS-CoV and among health-care workers were less serious. This study represents an attempt to estimate risk factors for an emerging infectious disease using open data and to address some of the uncertainty surrounding MERS-CoV epidemiology. © The Author 2016. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Early neonatal death: A challenge worldwide.

PubMed

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

2017-06-01

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

Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population

PubMed Central

Huang, Lei; Tang, Shuangbo; Chen, Yili; Zhang, Liyong; Yin, Kun; Wu, Yeda; Zheng, Jinxiang; Wu, Qiuping; Makielski, Jonathan C.

2017-01-01

Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Clinical features of SUNDS survivors suggested that SUNDS is similar to Brugada syndrome (BrS). Leucine-rich repeat containing 10 (LRRC10) gene was a newly identified gene linked to dilated cardiomyopathy, a disease associated with sudden cardiac death. To investigate the prevalence and spectrum of genetic variants of LRRC10 gene in SUNDS and BrS, the coding regions of LRRC10 were genetically screened in 113 sporadic SUNDS victims (from January 2005 to December 2015, 30.7 ± 7.5 years) and ten BrS patients (during January 2010 to December 2014, 38.7 ± 10.3 years) using direct Sanger sequencing. Afterwards, LRRC10 missense variant carriers were screened for a panel of 80 genes known to be associated with inherited cardiac arrhythmia/cardiomyopathy using target-captured next-generation sequencing. In this study, an in silico-predicted malignant LRRC10 mutation p.E129K was detected in one SUNDS victim without pathogenic rare variant in a panel of 80 arrhythmia/cardiomyopathy-related genes. We also provided evidence to show that rare variant p.P69L might contribute to the genetic cause for one SUNDS victim and two BrS family members. This is the first report of genetic screening of LRRC10 in Chinese SUNDS victims and BrS patients. LRRC10 may be a new susceptible gene for SUNDS, and LRRC10 variant was initially and genetically linked to BrS-associated arrhythmia. PMID:28032242

Metabolic syndrome after pediatric liver transplantation.

PubMed

Kosola, Silja; Lampela, Hanna; Makisalo, Heikki; Lohi, Jouko; Arola, Johanna; Jalanko, Hannu; Pakarinen, Mikko

2014-10-01

Half of adult liver transplantation (LT) recipients develop metabolic syndrome, but the prevalence after childhood LT remains unknown. We conducted a national cross-sectional study of all living patients who had undergone LT between 1987 and 2007 at an age less than 18 years. We gathered information on blood pressure, body composition, serum lipids, glucose metabolism, and histological liver fat content. The diagnostic criteria for metabolic syndrome of the American Heart Association and the International Diabetes Federation were used. After a median post-LT follow-up time of 12 years, half of all patients had no components of metabolic syndrome. The prevalence of overweight/obesity was 20%, and the prevalence of hypertension was 24%. Serum triglycerides were high in 9%, and high-density lipoprotein levels were low in 23%. Fasting glucose levels were impaired in 14%, but none had diabetes. Altogether, 9 patients (14%) had metabolic syndrome. Moderate liver steatosis found in protocol liver biopsy samples was associated with the accumulation of metabolic syndrome features (P = 0.01). No significant associations were found between immunosuppressive medications and metabolic syndrome. In conclusion, the prevalence of metabolic syndrome after childhood LT is similar to the prevalence in the general population of the same age. Guidelines for the general population, therefore, seem valid for the prevention and treatment of metabolic syndrome after pediatric LT as well. © 2014 American Association for the Study of Liver Diseases.

[Williams-Beuren syndrome (Williams syndrome). Case report].

PubMed

Miklós, Györgyi; Fekete, György; Haltrich, Irén; Tóth, Miklós; Reismann, Péter

2017-11-01

Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. Orv Hetil. 2017; 158(47): 1883-1888.

A Sibling Death in the Family: Common and Consequential

PubMed Central

Fletcher, Jason; Mailick, Marsha; Song, Jieun

2015-01-01

Although a large literature analyzes the determinants of child mortality and suggests policy and medical interventions aimed at its reduction, there is little existing analysis illuminating the consequences of child mortality for other family members. In particular, there is little evidence exploring the consequences of experiencing the death of a sibling on one’s own development and transition to adulthood. This article examines the prevalence and consequences of experiencing a sibling death during one’s childhood using two U.S. data sets. We show that even in a rich developed country, these experiences are quite common, affecting between 5 % and 8 % of the children with one or more siblings in our two data sets. We then show that these experiences are associated with important reductions in years of schooling as well as a broad range of adult socioeconomic outcomes. Our findings also suggest that sisters are far more affected than brothers and that the cause of death is an important factor in sibling effects. Overall, our findings point to important previously unexamined consequences of child mortality, adding to the societal costs associated with childhood mortality as well as suggesting additional benefits from policy and medical innovations aimed at curbing both such deaths and subsequent effects on family members. PMID:23073753

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

PubMed

Därr, Roland; Nambuba, Joan; Del Rivero, Jaydira; Janssen, Ingo; Merino, Maria; Todorovic, Milena; Balint, Bela; Jochmanova, Ivana; Prchal, Josef T; Lechan, Ronald M; Tischler, Arthur S; Popovic, Vera; Miljic, Dragana; Adams, Karen T; Prall, F Ryan; Ling, Alexander; Golomb, Meredith R; Ferguson, Michael; Nilubol, Naris; Chen, Clara C; Chew, Emily; Taïeb, David; Stratakis, Constantine A; Fojo, Tito; Yang, Chunzhang; Kebebew, Electron; Zhuang, Zhengping; Pacak, Karel

2016-12-01

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8-38) and SOMs at 29 years (range 22-38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [ 18 F]-fluorodihydroxyphenylalanine ([ 18 F]-FDOPA). Therefore, [ 18 F]-FDOPA PET/CT, not [ 68 Ga]-(DOTA)-[Tyr3]-octreotate ([ 68 Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. © 2016 Society for Endocrinology.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

PubMed Central

Foley, A. Reghan; Menezes, Manoj P.; Pandraud, Amelie; Gonzalez, Michael A.; Al-Odaib, Ahmad; Abrams, Alexander J.; Sugano, Kumiko; Yonezawa, Atsushi; Manzur, Adnan Y.; Burns, Joshua; Hughes, Imelda; McCullagh, B. Gary; Jungbluth, Heinz; Lim, Ming J.; Lin, Jean-Pierre; Megarbane, Andre; Urtizberea, J. Andoni; Shah, Ayaz H.; Antony, Jayne; Webster, Richard; Broomfield, Alexander; Ng, Joanne; Mathew, Ann A.; O’Byrne, James J.; Forman, Eva; Scoto, Mariacristina; Prasad, Manish; O’Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Hargreaves, Iain; Land, John M.; Wang, Min X.; Carpenter, Kevin; Horvath, Rita; Straub, Volker; Lek, Monkol; Gold, Wendy; Farrell, Michael O.; Brandner, Sebastian; Phadke, Rahul; Matsubara, Kazuo; McGarvey, Michael L.; Scherer, Steven S.; Baxter, Peter S.; King, Mary D.; Clayton, Peter; Rahman, Shamima; Reilly, Mary M.; Ouvrier, Robert A.; Christodoulou, John; Züchner, Stephan; Muntoni, Francesco

2014-01-01

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin. We identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression, and we report the response to high-dose oral riboflavin therapy in patients with SLC52A2 mutations, including significant and sustained clinical and biochemical improvements in two patients and preliminary clinical response data in 13 patients with associated biochemical improvements in 10 patients. The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

PubMed

Foley, A Reghan; Menezes, Manoj P; Pandraud, Amelie; Gonzalez, Michael A; Al-Odaib, Ahmad; Abrams, Alexander J; Sugano, Kumiko; Yonezawa, Atsushi; Manzur, Adnan Y; Burns, Joshua; Hughes, Imelda; McCullagh, B Gary; Jungbluth, Heinz; Lim, Ming J; Lin, Jean-Pierre; Megarbane, Andre; Urtizberea, J Andoni; Shah, Ayaz H; Antony, Jayne; Webster, Richard; Broomfield, Alexander; Ng, Joanne; Mathew, Ann A; O'Byrne, James J; Forman, Eva; Scoto, Mariacristina; Prasad, Manish; O'Brien, Katherine; Olpin, Simon; Oppenheim, Marcus; Hargreaves, Iain; Land, John M; Wang, Min X; Carpenter, Kevin; Horvath, Rita; Straub, Volker; Lek, Monkol; Gold, Wendy; Farrell, Michael O; Brandner, Sebastian; Phadke, Rahul; Matsubara, Kazuo; McGarvey, Michael L; Scherer, Steven S; Baxter, Peter S; King, Mary D; Clayton, Peter; Rahman, Shamima; Reilly, Mary M; Ouvrier, Robert A; Christodoulou, John; Züchner, Stephan; Muntoni, Francesco; Houlden, Henry

2014-01-01

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive pontobulbar palsy, sensorineural hearing loss and respiratory insufficiency. There has been no treatment for this progressive neurodegenerative disorder, which leads to respiratory failure and usually death during childhood. We recently reported the identification of SLC52A2, encoding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome. We used both exome and Sanger sequencing to identify SLC52A2 mutations in patients presenting with cranial neuropathies and sensorimotor neuropathy with or without respiratory insufficiency. We undertook clinical, neurophysiological and biochemical characterization of patients with mutations in SLC52A2, functionally analysed the most prevalent mutations and initiated a regimen of high-dose oral riboflavin. We identified 18 patients from 13 families with compound heterozygous or homozygous mutations in SLC52A2. Affected individuals share a core phenotype of rapidly progressive axonal sensorimotor neuropathy (manifesting with sensory ataxia, severe weakness of the upper limbs and axial muscles with distinctly preserved strength of the lower limbs), hearing loss, optic atrophy and respiratory insufficiency. We demonstrate that SLC52A2 mutations cause reduced riboflavin uptake and reduced riboflavin transporter protein expression, and we report the response to high-dose oral riboflavin therapy in patients with SLC52A2 mutations, including significant and sustained clinical and biochemical improvements in two patients and preliminary clinical response data in 13 patients with associated biochemical improvements in 10 patients. The clinical and biochemical responses of this SLC52A2-specific cohort suggest that riboflavin supplementation can

Childhood pneumonia - the Drakenstein Child Health Study.

PubMed

Zar, Heather Jessica; Barnett, Whitney; Myer, Landon; Nicol, Mark P

2016-06-15

Advances in immunisation, improvements in socioeconomic status and effective HIV prevention and treatment strategies have reduced the population burden of childhood pneumonia and severe disease. However, pneumonia remains the major single cause of death in children outside the neonatal period, causing approximately 1 million deaths annually, or 15% of an estimated 6.3 million deaths in children aged under 5 years. This burden is disproportionately high in low- and middle-income countries and in Africa, where almost 50% of deaths in children aged  under 5 years occur, despite African children comprising only 25% of live births globally. Pneumonia incidence and severity are highest in the first year of life, especially in the first 6 months.

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

PubMed

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

2015-10-01

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

Treosulfan, Fludarabine Phosphate, and Total-Body Irradiation Before Donor Stem Cell Transplant in Treating Patients With High-Risk Acute Myeloid Leukemia, Myelodysplastic Syndrome, Acute Lymphoblastic Leukemia

ClinicalTrials.gov

2017-04-05

Accelerated Phase Chronic Myelogenous Leukemia; Adult Acute Lymphoblastic Leukemia in Remission; Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); 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 Myelomonocytic Leukemia; de Novo 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; Secondary Myelodysplastic Syndromes; Untreated Adult Acute Lymphoblastic Leukemia; Untreated Childhood Acute Lymphoblastic Leukemia

Death and Its Rituals in Novels on AIDS.

ERIC Educational Resources Information Center

Levy, Joseph J.; Nouss, Alexis

1993-01-01

Reviews novels dealing with the Acquired Immune Deficiency Syndrome (AIDS) epidemic, noting that their perspectives on death can be extracted through content analysis. Concludes that, overall, these novels present weak symbolization about death with rituals that are not highly elaborated and that complex images of the afterlife are not offered.…

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

PubMed

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

2015-03-01

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

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. © 2011 American Academy of Forensic Sciences.

Childhood cancer survival in Switzerland (1976-2013): Time-trends and predictors.

PubMed

Schindler, Matthias; Belle, Fabiën N; Grotzer, Michael A; von der Weid, Nicolas X; Kuehni, Claudia E

2017-01-01

Population-based studies on childhood cancer survival are key to monitor progress against cancer and to detect potential differences between regions and other subgroups in the population. We investigated time trends and factors associated with childhood cancer survival on a national level in Switzerland, from 1976 to 2013. We extracted data from the population-based Swiss Childhood Cancer Registry of 5,776 children (age 0-14 years) diagnosed with cancer from 1985 to 2014 in Switzerland. We calculated age-adjusted 5-year survival, defined the annual reduction in risk of death (ARR), and explored associations of survival with clinical and demographic factors. Overall, 5-year survival improved significantly, from 64% in 1976-1983 to 88% in 2004-2013. ARR over the whole period was 4% for all diagnostic groups, greatest for Hodgkin lymphomas (8%), ependymomas (6%), Burkitt's lymphomas (6%) and germ cell tumours (6%). Children treated in hospitals without specialised paediatric cancer centre for leukaemia (HR 12.9), lymphoma (HR 5.0) and neuroblastoma (HR 3.7) were at higher risk of death. In French-speaking Switzerland, risk of death was lower for lymphoma (HR 0.6), CNS tumours (HR 0.7) and neuroblastoma (HR 0.5). Children with migration background had a higher risk of death from all tumours except bone tumours. Childhood cancer survival significantly improved from 1976 to 2013, but there is room for further improvement. Survival rates varied by type of clinical treatment, language region and nationality. All paediatric cancer patients should be referred to a specialised paediatric cancer centre. Further research is needed to intervene and completely eliminate inequalities in survival. © 2016 UICC.

Bone marrow failure in childhood: central pathology review of a nationwide registry.

PubMed

Ito, Masafumi

2017-01-01

Refractory cytopenia of childhood (RCC) was proposed as a provisional entity in the 2008 WHO classification of myelodysplastic syndromes (MDS). It is defined as a childhood MDS featuring persistent cytopenia without increase blasts in bone marrow (BM) or peripheral blood (PB). Because the majority of RCC cases feature hypocellularity and pancytopenia, it is quite challenging to differentiate RCC from acquired aplastic anemia (AA) and many kinds of inherited bone marrow failure syndromes (IBMFS). Diagnosis of RCC requires BM histology of characteristic features such as isolated erythroid islet with left shift, abnormal localization and micromegakaryocytes. The Japanese Society of Pediatric Hematology/Oncology has opened the central registry review system since 2009 to evaluate childhood cases of bone marrow failure (BMF). It has reviewed cytology and BM pathology of all registered BMF cases, which number more than 1,700. In the evaluation of BMF, BM pathology is important to assess the mechanism of hematopoiesis. Pathological dysplasia should be differentiated from cytological dysplasia. A central review system is important for rare diseases, such as pediatric BMF. Standardization of pathological diagnosis should be established upon consensus findings, descriptions, and diagnostic approaches. In this review, the pathology of pediatric BMF syndromes is summarized.

[The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome)].

PubMed

Iovchuk, N M; Severnyĭ, A A

Based on the analysis of literature and own clinical experience, we discuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented.

Childhood Disintegrative Disorder: Issues for DSM-IV.

ERIC Educational Resources Information Center

Volkmar, Fred R.

1992-01-01

This paper presents evidence regarding the validity of the diagnostic concept of "autistic-like" childhood disintegrative disorder, also known as Heller syndrome or as disintegrative psychosis. Its inclusion in the DSM-IV (Diagnostic and Statistical Manual) is supported, and proposed criteria and narrative description are provided.…

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

PubMed Central

Schneider, Maude; Debbané, Martin; Bassett, Anne S.; Chow, Eva W.C.; Fung, Wai Lun Alan; van den Bree, Marianne B.M.; Owen, Michael; Murphy, Kieran C.; Niarchou, Maria; Kates, Wendy R.; Antshel, Kevin M.; Fremont, Wanda; McDonald-McGinn, Donna M.; Gur, Raquel E.; Zackai, Elaine H.; Vorstman, Jacob; Duijff, Sasja N.; Klaassen, Petra W.J.; Swillen, Ann; Gothelf, Doron; Green, Tamar; Weizman, Abraham; Van Amelsvoort, Therese; Evers, Laurens; Boot, Erik; Shashi, Vandana; Hooper, Stephen R.; Bearden, Carrie E.; Jalbrzikowski, Maria; Armando, Marco; Vicari, Stefano; Murphy, Declan G.; Ousley, Opal; Campbell, Linda E.; Simon, Tony J.; Eliez, Stephan

2014-01-01

Objective Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. Method The 1,402 participants with 22q11.2 deletion syndrome, ages 6–68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. Results Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were overrepresented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. Conclusions To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome. PMID:24577245

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

PubMed Central

Douglas, Jenny; Hanks, Sandra; Temple, I. Karen; Davies, Sally; Murray, Alexandra; Upadhyaya, Meena; Tomkins, Susan; Hughes, Helen E.; Cole, Trevor R. P.; Rahman, Nazneen

2003-01-01

Sotos syndrome is a childhood overgrowth syndrome characterized by a distinctive facial appearance, height and head circumference >97th percentile, advanced bone age, and developmental delay. Weaver syndrome is characterized by the same criteria but has its own distinctive facial gestalt. Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases. We evaluated 75 patients with childhood overgrowth, for intragenic mutations and large deletions of NSD1. The series was phenotypically scored into four groups, prior to the molecular analyses: the phenotype in group 1 (n=37) was typical of Sotos syndrome; the phenotype in group 2 (n=13) was Sotos-like but with some atypical features; patients in group 3 (n=7) had Weaver syndrome, and patients in group 4 (n=18) had an overgrowth condition that was neither Sotos nor Weaver syndrome. We detected three deletions and 32 mutations (13 frameshift, 8 nonsense, 2 splice-site, and 9 missense) that are likely to impair NSD1 functions. The truncating mutations were spread throughout NSD1, but there was evidence of clustering of missense mutations in highly conserved functional domains between exons 13 and 23. There was a strong correlation between presence of an NSD1 alteration and clinical phenotype, in that 28 of 37 (76%) patients in group 1 had NSD1 mutations or deletions, whereas none of the patients in group 4 had abnormalities of NSD1. Three patients with Weaver syndrome had NSD1 mutations, all between amino acids 2142 and 2184. We conclude that intragenic mutations of NSD1 are the major cause of Sotos syndrome and account for some Weaver syndrome cases but rarely occur in other childhood overgrowth phenotypes. PMID:12464997

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. ...

Adverse childhood experiences are associated with irritable bowel syndrome and gastrointestinal symptom severity.

PubMed

Park, S H; Videlock, E J; Shih, W; Presson, A P; Mayer, E A; Chang, L

2016-08-01

Early adverse life events (EALs) are associated with irritable bowel syndrome (IBS). Exposure to EALs as assessed by the Adverse Childhood Experiences (ACE) questionnaire is associated with greater disease prevalence, but ACE has not been studied in gastrointestinal disorders. Study aims were to: (i) Estimate the prevalence of EALs in the IBS patients using the ACE questionnaire; (ii) Determine correlations between ACE and Early Trauma Inventory Self Report-Short Form (ETI-SR) scores to confirm its validity in IBS; and (iii) Correlate ACE scores with IBS symptom severity. A total of 148 IBS (73% women, mean age = 31 years) and 154 HCs (59% women, mean age = 30 years) completed the ACE and ETI-SR between June 2010 and April 2015. These surveys measured EALs before age 18 in the domains of physical, sexual, and emotional abuse, and general trauma. IBS and abdominal pain severity was measured by a 20-point scale (0 = none, 20 = worst symptoms). The ACE score increased the odds of having IBS (odds ratio [OR] = 2.05, 95% confidence interval [CI]: 1.21-3.48, p = 0.008). Household mental illness (p < 0.001), emotional abuse (p = 0.004), and incarcerated household member (p = 0.019) were significant predictors of IBS. Adverse childhood experiences and ETI-SR scores were strongly correlated (r = 0.59, p < 0.001). ACE, but not ETI-SR, modestly correlated with IBS severity (r = 0.17, p = 0.036) and abdominal pain (r = 0.20, p = 0.015). The ACE questionnaire is a useful instrument to measure EALs in IBS based on its use in large studies, its ability to measure prevalence across different EAL domains, and its correlation with symptom severity. © 2016 John Wiley & Sons Ltd.

Child Injury Deaths: Comparing Prevention Information from Two Coding Systems

PubMed Central

Schnitzer, Patricia G.; Ewigman, Bernard G.

2006-01-01

Objectives The International Classification of Disease (ICD) external cause of injury E-codes do not sufficiently identify injury circumstances amenable to prevention. The researchers developed an alternative classification system (B-codes) that incorporates behavioral and environmental factors, for use in childhood injury research, and compare the two coding systems in this paper. Methods All fatal injuries among children less than age five that occurred between January 1, 1992, and December 31, 1994, were classified using both B-codes and E-codes. Results E-codes identified the most common causes of injury death: homicide (24%), fires (21%), motor vehicle incidents (21%), drowning (10%), and suffocation (9%). The B-codes further revealed that homicides (51%) resulted from the child being shaken or struck by another person; many fires deaths (42%) resulted from children playing with matches or lighters; drownings (46%) usually occurred in natural bodies of water; and most suffocation deaths (68%) occurred in unsafe sleeping arrangements. Conclusions B-codes identify additional information with specific relevance for prevention of childhood injuries. PMID:15944169

Childhood Suicide and Myths Surrounding It.

ERIC Educational Resources Information Center

Greene, Dorothea B.

1994-01-01

Dispels five misconceptions surrounding the suicide of children: that children under the age of six do not commit suicide; that suicide in latency years is extremely rare; that psychodynamically and developmentally true depression is not possible in childhood; that child cannot understand finality of death; and that children are cognitively and…

Sudden unexpected infant death: differentiating natural from abusive causes in the emergency department.

PubMed

Bechtel, Kirsten

2012-10-01

Sudden unexpected infant deaths (SUIDs) are deaths in infants younger than 12 months that occur suddenly, unexpectedly, and without obvious cause in the emergency department (ED). Sudden infant death syndrome, the leading cause of SUID in the United States, is much more common, but fatal child abuse and neglect have been sometimes mistaken for sudden infant death syndrome. The distinction between these 2 entities can only be made after a thorough investigation of the scene, interview of caregivers, and a complete forensic autopsy. Development of ED guidelines for the reporting and evaluation of SUID, in collaboration with the local medical examiner and child death review teams, will enable ED practitioners to collect important information in a compassionate manner that will be valuable to the investigating personnel.

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): ...

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

PubMed

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

2013-11-01

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

[Two cases of Costello syndrome].

PubMed

Masuyama, Tatsuo; Matsuo, Muneaki; Kuno, Tateo; Kitsuki, Kyoko; Kan, Yuka; Ishii, Kiyohisa; Ohtani, Yoshinobu

2003-01-01

We report two unrelated cases of Costello syndrome, presenting with poor postnatal growth, mild mental retardation, poor feeding, curly hair, coarse characteristic face, loose skin, hypotonia, and cardiac involvement. Nasal papilloma and acanthosis nigricans were the most characteristic features of this syndrome. Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus.

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…

Learning about Life and Death in Early Childhood

ERIC Educational Resources Information Center

Slaughter, Virginia; Lyons, Michelle

2003-01-01

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

Childhood IQ and deaths up to middle age: The Newcastle Thousand Families Study.

PubMed

Pearce, M S; Deary, I J; Young, A H; Parker, L

2006-11-01

To test the hypothesis that an association exists between childhood IQ (at age 11) and mortality up to middle age. The Newcastle Thousand Families study, a prospectively followed cohort, originally consisted of all 1142 births in the city of Newcastle in May and June 1947. Using data on 717 members of this cohort, we investigated the associations between the results of tests of IQ and English and arithmetic ability at age 11 years and mortality up to the end of 2003 using Cox's proportional hazards models. Childhood IQ was significantly related to mortality in men (hazard ratio 0.57 for a standard deviation change in IQ at age 11; 95% CI 0.37, 0.86; P=0.007), but not in women (hazard ratio 0.79; 95% CI 0.49, 1.27; P=0.33). Adjustment for social class at birth had little effect on the associations. Similar results were seen when using the English and arithmetic scores. These results confirm a recently reported association between individual differences in childhood cognition and mortality up to middle age, independent of childhood socio-economic circumstances. It is possible that the link between IQ and mortality is in part mediated through later life choices. Further research is required to identify the mechanisms by which such an association may occur, and to provide input to health promotion and disease management strategies that may improve health throughout life.

Sociodemographic and psychosocial factors in childhood as predictors of adult mortality.

PubMed Central

Schwartz, J E; Friedman, H S; Tucker, J S; Tomlinson-Keasey, C; Wingard, D L; Criqui, M H

1995-01-01

OBJECTIVES: Childhood sociodemographic, psychosocial, and environmental factors are often assumed to affect adult health and longevity. These relationships were prospectively tested by using the 7-decade Terman Life Cycle Study of Children With High Ability (n = 1285). METHODS: Parental socioeconomic status, childhood health, objective childhood stressors (e.g., death or divorce of parents), and childhood personality were considered as potential predictors in hazard regression analyses of longevity through 1991. RESULTS: Parental divorce during childhood predicted decreased longevity, with sex controlled. Other potential social predictors failed to show significant associations with longevity. Three dimensions of childhood personality--conscientiousness, lack of cheerfulness, and permanency of mood (males only)--predicted increased longevity. The effects of parental divorce and childhood personality were largely independent and did not account for any of the gender difference in mortality. CONCLUSIONS: A small number of childhood factors significantly predicted mortality across the life span in this sample. Further research should focus on how these psychosocial factors influence longevity. PMID:7661231

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…

Churg-Strauss syndrome in childhood: a case report.

PubMed

Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka

2014-10-01

Churg-Strauss syndrome is a rare form of small-vessel vasculitis. In the current report, we describe the case of a 17-year-old Czech girl predominantly characterized by peripheral neuropathy, the presence of cardiac and pulmonary involvement, hypereosinophilia, asthma, and sinusitis that led to the diagnosis of Churg-Strauss syndrome. © The Author(s) 2013.

Alagille Syndrome: A Case Report Highlighting Dysmorphic Facies, Chronic Illness, and Depression

PubMed Central

Winthrop, Zachary A.; Salman, Rabia; Majeed, Salman

2016-01-01

Alagille syndrome is a rare multisystem disorder affecting the liver, heart, vertebrae, eyes, and face. Alagille syndrome shares multiple phenotypic variants of other congenital or chronic childhood illnesses such as DiGeorge syndrome, Down syndrome, spina bifida, type 1 diabetes mellitus, and cystic fibrosis. All of these chronic illnesses have well-established links to psychiatric conditions. There are few community resources for Alagille patients, as it is an extremely rare condition. Despite the overlap with other chronic childhood illnesses, the psychiatric manifestations of Alagille syndrome have not been previously discussed in literature. The current study is a case report of a twelve-year-old female hospitalized in our pediatric psychiatric hospital for suicidal ideation with intent and plan. The patient had major depressive disorder, anxiety, other specified feeding and eating disorder, and attention-deficit/hyperactive disorder. PMID:28018696

Is Overall Mortality the Right Composite Endpoint in Clinical Trials of Acute Respiratory Distress Syndrome?

PubMed

Villar, Jesús; Martínez, Domingo; Mosteiro, Fernando; Ambrós, Alfonso; Añón, José M; Ferrando, Carlos; Soler, Juan A; Montiel, Raquel; Vidal, Anxela; Conesa-Cayuela, Luís A; Blanco, Jesús; Arrojo, Regina; Solano, Rosario; Capilla, Lucía; Del Campo, Rafael; Civantos, Belén; Fernández, María Mar; Aldecoa, César; Parra, Laura; Gutiérrez, Andrea; Martínez-Jiménez, Chanel; González-Martín, Jesús M; Fernández, Rosa L; Kacmarek, Robert M

2018-06-01

Overall mortality in patients with acute respiratory distress syndrome is a composite endpoint because it includes death from multiple causes. In most acute respiratory distress syndrome trials, it is unknown whether reported deaths are due to acute respiratory distress syndrome or the underlying disease, unrelated to the specific intervention tested. We investigated the causes of death after contracting acute respiratory distress syndrome in a large cohort. A secondary analysis from three prospective, multicenter, observational studies. A network of multidisciplinary ICUs. We studied 778 patients with moderate-to-severe acute respiratory distress syndrome treated with lung-protective ventilation. None. We examined death in the ICU from individual causes. Overall ICU mortality was 38.8% (95% CI, 35.4-42.3). Causes of acute respiratory distress syndrome modified the risk of death. Twenty-three percent of deaths occurred from refractory hypoxemia due to nonresolving acute respiratory distress syndrome. Most patients died from causes unrelated to acute respiratory distress syndrome: 48.7% of nonsurvivors died from multisystem organ failure, and cancer or brain injury was involved in 37.1% of deaths. When quantifying the true burden of acute respiratory distress syndrome outcome, we identified 506 patients (65.0%) with one or more exclusion criteria for enrollment into current interventional trials. Overall ICU mortality of the "trial cohort" (21.3%) was markedly lower than the parent cohort (relative risk, 0.55; 95% CI, 0.43-0.70; p < 0.000001). Most deaths in acute respiratory distress syndrome patients are not directly related to lung damage but to extrapulmonary multisystem organ failure. It would be challenging to prove that specific lung-directed therapies have an effect on overall survival.

Childhood obesity and type 2 diabetes in India.

PubMed

Praveen, Pradeep A; Tandon, Nikhil

2016-04-01

India is witnessing an increase in the burden of childhood obesity, especially among the upper socioeconomic strata and in urban areas. Emerging literature suggests a link between childhood obesity and the diabetes epidemic in India. Asian-Indian children and adolescents are increasingly susceptible to a high percentage of body fat and abdominal adiposity. Further, they are exposed to an obesogenic environment, created by rapid urbanization and nutrition transition in India. Obese children have a higher risk of developing abnormalities that are recognized as precursors to diabetes, such as subclinical inflammation, insulin resistance and metabolic syndrome, which often track to adulthood. A review of the literature suggests the need for more longitudinal studies to improve understanding of the long-term consequences of childhood obesity in India. A life-course approach with a combination of population- and risk-based strategies is warranted, to prevent childhood obesity and curtail its consequences in adulthood.

Severe childhood malnutrition.

PubMed

Bhutta, Zulfiqar A; Berkley, James A; Bandsma, Robert H J; Kerac, Marko; Trehan, Indi; Briend, André

2017-09-21

The main forms of childhood malnutrition occur predominantly in children <5 years of age living in low-income and middle-income countries and include stunting, wasting and kwashiorkor, of which severe wasting and kwashiorkor are commonly referred to as severe acute malnutrition. Here, we use the term 'severe malnutrition' to describe these conditions to better reflect the contributions of chronic poverty, poor living conditions with pervasive deficits in sanitation and hygiene, a high prevalence of infectious diseases and environmental insults, food insecurity, poor maternal and fetal nutritional status and suboptimal nutritional intake in infancy and early childhood. Children with severe malnutrition have an increased risk of serious illness and death, primarily from acute infectious diseases. International growth standards are used for the diagnosis of severe malnutrition and provide therapeutic end points. The early detection of severe wasting and kwashiorkor and outpatient therapy for these conditions using ready-to-use therapeutic foods form the cornerstone of modern therapy, and only a small percentage of children require inpatient care. However, the normalization of physiological and metabolic functions in children with malnutrition is challenging, and children remain at high risk of relapse and death. Further research is urgently needed to improve our understanding of the pathophysiology of severe malnutrition, especially the mechanisms causing kwashiorkor, and to develop new interventions for prevention and treatment.

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

ERIC Educational Resources Information Center

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

2013-01-01

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

Higher hdl levels are a preventive factor for metabolic syndrome in obese Turkish children.

PubMed

Özer, Samet; Yılmaz, Resul; Özlem Kazanci, Nafia; Sönmezgöz, Ergün; Karaaslan, Erhan; Altuntaş, Buket; Emre Kuyucu, Yunus

2014-10-03

The definition of childhood metabolic syndrome has not been described clearly. Childhood obesity is increasing gradually, and the incidence of childhood metabolic syndrome is also rising. We aimed to show metabolic syndrome components and preventive factors for metabolic syndrome in obese children Methods: In the present study, 187 obese children and adolescents 5-18 years old were investigated retrospectively. Demographic data, anthropometric measurements, body mass index, blood pressure values, insulin levels, oral glucose tolerance test results, total cholesterol, high density lipoprotein, and triglyceride levels were obtained from hospital records. A body mass index > 95th percentile was considered obese. Insulin resistance was calculated according to the oral glucose tolerance test with 1.75 g/kg glucose maximum 75 g glucose. The insulin sensitivity index and homeostatic model assessment-insulin resistance (HOMA IR) were calculated and compared. Metabolic syndrome was diagnosed according to the modified WHO criteria adapted for metabolic syndrome in children. Abnormal glucose homeostasis was detected in 53% of subjects. Dyslipidaemia was present in 45.7% and hypertension in 16.6% of the patients. Metabolic syndrome was identified in 24.6% of obese children and adolescents. High HOMA-IR values and fasting glucose levels, elevated triglycerides and lower HDL levels were an indication of metabolic syndrome. Obesity and insulin resistance are significant factors for the development of metabolic syndrome in children and adolescents. In obese children higher HDL levels are preventive factor for metabolic syndrome. Preventing obesity and insulin resistance may decrease the prevalence of metabolic syndrome. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

Kindler syndrome.

PubMed

Sharma, Ramesh Chander; Mahajan, Vikram; Sharma, Nand Lal; Sharma, Ashok K

2003-09-01

Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.

Childhood Maltreatment, Public Service System Contact, and Preventable Death in Young Adulthood.

PubMed

Jonson-Reid, Melissa; Drake, Brett; Kohl, Patricia L

2017-02-01

Data from a longitudinal cohort study of low-income children reported for maltreatment matched to similarly poor nonreported children were used to examine intentional and unintentional injury deaths in young adulthood. The goal was to examine the unique contribution of maltreatment history and identify other potential systems for preventive efforts. Maltreatment reports were associated with increased risk of injury-related death per 6-month intervals (hazard ratio [HR] = 1.09, p < .05). Young adults with histories of both status offenses and delinquent offenses were at greater risk for later death (HR = 2.24, p < .05) as were those with histories of emergency room (ER) treatment for intentional injury prior to age 18 years (HR =3.95, p < .05). More than 50% of the deaths were firearm-related; nearly all firearm deaths occurred among Black youth. Implications for prevention within at-risk populations are discussed.

Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).

PubMed

Pardo, Carlos A; Nabbout, Rima; Galanopoulou, Aristea S

2014-04-01

The mechanisms of epileptogenesis in pediatric epileptic syndromes are diverse, and may involve disturbances of neurodevelopmental trajectories, synaptic homeostasis, and cortical connectivity, which may occur during brain development, early infancy, or childhood. Although genetic or structural/metabolic factors are frequently associated with age-specific epileptic syndromes, such as infantile spasms and West syndrome, other syndromes may be determined by the effect of immunopathogenic mechanisms or energy-dependent processes in response to environmental challenges, such as infections or fever in normally-developed children during early or late childhood. Immune-mediated mechanisms have been suggested in selected pediatric epileptic syndromes in which acute and rapidly progressive encephalopathies preceded by fever and/or infections, such as febrile infection-related epilepsy syndrome, or in chronic progressive encephalopathies, such as Rasmussen encephalitis. A definite involvement of adaptive and innate immune mechanisms driven by cytotoxic CD8(+) T lymphocytes and neuroglial responses has been demonstrated in Rasmussen encephalitis, although the triggering factor of these responses remains unknown. Although the beneficial response to steroids and adrenocorticotropic hormone of infantile spasms, or preceding fever or infection in FIRES, may support a potential role of neuroinflammation as pathogenic factor, no definite demonstration of such involvement has been achieved, and genetic or metabolic factors are suspected. A major challenge for the future is discovering pathogenic mechanisms and etiological factors that facilitate the introduction of novel targets for drug intervention aimed at interfering with the disease mechanisms, therefore providing putative disease-modifying treatments in these pediatric epileptic syndromes.

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome

PubMed Central

Därr, Roland; Nambuba, Joan; Del Rivero, Jaydira; Janssen, Ingo; Merino, Maria; Todorovic, Milena; Balint, Bela; Jochmanova, Ivana; Prchal, Josef T.; Lechan, Ronald M.; Tischler, Arthur S.; Popovic, Vera; Miljic, Dragana; Adams, Karen T.; Prall, F. Ryan; Ling, Alexander; Golomb, Meredith R.; Ferguson, Michael; Nilubol, Naris; Chen, Clara C.; Chew, Emily; Taïeb, David; Stratakis, Constantine A.; Fojo, Tito; Yang, Chunzhang; Kebebew, Electron; Zhuang, Zhengping; Pacak, Karel

2016-01-01

The syndrome of paraganglioma (PGL), somatostatinoma (SOM), and early childhood polycythemia in patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A) gene is described in only a few patients worldwide. The present study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings these experiences into perspective with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with secondary polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent, and metastatic in 100%, 100%, and 29% of all cases, and SOMs in 40%, 40%, and 60%, respectively. All PGLs were primarily norepinephrine producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. PMID:27679736

Multispectral Brain Morphometry in Tourette Syndrome Persisting into Adulthood

ERIC Educational Resources Information Center

Draganski, Bogdan; Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

2010-01-01

Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into…

The Landau-Kleffner Syndrome

PubMed Central

Pearl, Phillip L.; Carrazana, Enrique J.; Holmes, Gregory L.

2001-01-01

Landau-Kleffner syndrome (LKS), or acquired epileptiform aphasia, is an epilepsy syndrome involving progressive neuropsychological impairment related to the appearance of paroxysmal electroencephalograph (EEG) activity. LKS appears to share a common pathophysiologic mechanism with continuous spike-wave of sleep (CSWS), acquired epileptic opercular syndrome (AEOS), and even benign childhood epilepsy with centrotemporal spikes (BECTS), with differentiating factors including age of onset, area of primary epileptogenicity, and severity of clinical presentation. This article covers the clinical, diagnostic, therapeutic, and prognostic features of LKS. In a child with autistic spectrum disorder, the presence of a fluctuating clinical course or regression should raise suspicion for the presence of associated epilepsy. PMID:15309183

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…

Insulin resistance syndrome in children.

PubMed

Ten, Svetlana; Maclaren, Noel

2004-06-01

The insulin resistance syndrome (syndrome X, metabolic syndrome) has become the major health problem of our times. Associated obesity, dyslipidemia, atherosclerosis, hypertension, and type 2 diabetes conspire to shorten life spans, while hyperandrogenism with polycystic ovarian syndrome affect the quality of life and fertility of increasing numbers of women. Whereas a growing number of single genetic diseases affecting satiety or energy metabolism have been found to produce the clinical phenotype, strong familial occurrences, especially in racially prone groups such as those from the Indian subcontinent, or individuals of African, Hispanic, and American Indian descents, together with emerging genetic findings, are revealing the polygenetic nature of the syndrome. However, the strong lifestyle factors of excessive carbohydrate and fat consumption and lack of exercise are important keys to the phenotypic expression of the syndrome. The natural history includes small for gestational age birth weight, excessive weight gains during childhood, premature pubarche, an allergic diathesis, acanthosis nigricans, striae compounded by gynecomastia, hypertriglyceridemia, hepatic steatosis, premature atherosclerosis, hypertension, polycystic ovarian syndrome, and focal glomerulonephritis appearing increasingly through adolescence into adulthood. Type 2 diabetes, which develops because of an inherent and/or an acquired failure of an insulin compensatory response, is increasingly seen from early puberty onward, as is atheromatous disease leading to coronary heart disease and stroke. A predisposition to certain cancers and Alzheimer's disease is also now recognized. The looming tragedy from growing numbers of individuals affected by obesity/insulin resistance syndrome requires urgent public health approaches directed at their early identification and intervention during childhood. Such measures include educating the public on the topic, limiting the consumption of sucrose

Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia

ClinicalTrials.gov

2014-10-23

Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome; Acute Myeloid Leukemia/Transient Myeloproliferative Disorder; Adult Acute Myeloid Leukemia in Remission; Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities; Adult Acute Myeloid Leukemia With Del(5q); Adult Acute Myeloid Leukemia With Inv(16)(p13;q22); Adult Acute Myeloid Leukemia With t(15;17)(q22;q12); Adult Acute Myeloid Leukemia With t(16;16)(p13;q22); Adult Acute Myeloid Leukemia With t(8;21)(q22;q22); Childhood Acute Myeloid Leukemia in Remission; Childhood Myelodysplastic Syndromes; de Novo Myelodysplastic Syndromes; Myelodysplastic Syndrome With Isolated Del(5q); Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable; Previously Treated Myelodysplastic Syndromes; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Secondary Acute Myeloid Leukemia; Secondary Myelodysplastic Syndromes

Cardiorenal Syndrome Type 5 in Sepsis: Role of Endotoxin in Cell Death Pathways and Inflammation.

PubMed

Virzì, Grazia Maria; Clementi, Anna; Brocca, Alessandra; de Cal, Massimo; Marcante, Stefano; Ronco, Claudio

2016-01-01

Cardiorenal Syndrome Type 5 (CRS Type 5) is characterized by concomitant cardiac and renal dysfunction in the setting of different systemic disorders, such as sepsis. In this study, we investigated the possible relationship between endotoxin levels, renal cell death and inflammation in septic patients with CRS Type 5. We enrolled 11 patients with CRS Type 5. CRS Type 5 was defined according to the current classification system. AKI was defined by Acute Kidney Injury Network (AKIN) criteria. Acute cardiac dysfunction was documented by echocardiography as acute left and/or right ventricular dysfunction leading to decreased ejection fraction. Endotoxin activity was measured by the Endotoxin Activity Assay (EAA). Plasma from CRS Type 5 patients was incubated with renal tubular cells (RTCs) and cell death levels were evaluated. Plasma cytokines levels were measured as well. Accordingly to EAA levels, patients were divided into two groups: 45.4% of patients had low endotoxin activity level (negative EAA), while 54.5% of patients showed high endotoxin activity (positive EAA). RTCs incubated with plasma from EAA positive patients showed significantly higher apoptosis levels and higher caspase-3 activation compared to cells incubated with plasma from EAA negative patients, and a significant positive correlation was observed between EAA levels and RTC apoptosis levels. Furthermore, IL-6 and IFN-γ levels were significantly higher in CRS Type 5 patients with positive EAA. Our data suggest a possible relationship between endotoxin levels and renal cell death in septic patients with CRS Type 5. Furthermore, this study highlights the presence of renal apoptosis, the immune deregulation and the strong inflammation in CRS Type 5 patients, especially in those with high endotoxin activity. © 2017 S. Karger AG, Basel.

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. Copyright © 2011 Elsevier Inc. All rights reserved.

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

Code of Federal Regulations, 2013 CFR

2013-01-01

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

Death and consciousness--an overview of the mental and cognitive experience of death.

PubMed

Parnia, Sam

2014-11-01

Advances in resuscitation science have indicated that, contrary to perception, death by cardiorespiratory criteria can no longer be considered a specific moment but rather a potentially reversible process that occurs after any severe illness or accident causes the heart, lungs, and brain to stop functioning. The resultant loss of vital signs of life (and life processes) is used to declare a specific time of death by physicians globally. When medical attempts are made to reverse this process, it is commonly referred to as cardiac arrest; however, when these attempts do not succeed or when attempts are not made, it is called death by cardiorespiratory criteria. Thus, biologically speaking, cardiac arrest and death by cardiorespiratory criteria are synonymous. While resuscitation science has provided novel opportunities to reverse death by cardiorespiratory criteria and treat the potentially devastating consequences of the resultant postresuscitation syndrome, it has also inadvertently provided intriguing insights into the likely mental and cognitive experience of death. Recollections reported by millions of people in relation to death, so-called out-of-body experiences (OBEs) or near-death experiences (NDEs), are often-discussed phenomena that are frequently considered hallucinatory or illusory in nature; however, objective studies on these experiences are limited. To date, many consistent themes corresponding to the likely experience of death have emerged, and studies have indicated that the scientifically imprecise terms of NDE and OBE may not be sufficient to describe the actual experience of death. While much remains to be discovered, the recalled experience surrounding death merits a genuine scientific investigation without prejudice. © 2014 New York Academy of Sciences.

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

PubMed

Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

2010-01-01

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family.

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

PubMed Central

Zantour, Baha; Sfar, Mohamed Habib; Younes, Samia; Alaya, Wafa; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saida

2010-01-01

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, metabolic syndrome, unilateral renal aplasia, and hypergonadotropic hypogonadism, and ruled out mitochondrial cytopathy and leucodystrophy. Karyotype study showed a 48XXYY chromosomal type. Renal aplasia and pigmentary retinitis have not been described in 48XXYY patients. They may be related to the chromosomal sex aneuploidy, or caused by other genetic aberrations in light of the high consanguinity rate in the patient's family. PMID:20827436

[Childhood headaches: new concepts and recent advances].

PubMed

Rufo-Campos, M; Rufo-Munoz, M

2018-06-05

This study reports on the latest advances in childhood headaches that have been made in the last few years, with special emphasis on the important new modifications that have been produced with respect to the previous ones, published in the beta version of the third edition of the International Classification of Headache Disorders. These include headaches that have undergone important qualifications, the appearance of new entities and a section which reports the existence of new headaches, but which have still not been considered as new entities. Additionally, other points that are highlighted include the strong relation between childhood headaches and attention deficit hyperactivity disorder, the weak relation between glutamate intake and the appearance of headaches, and the scant usefulness of magnetic resonance imaging of the brain in the diagnosis of these processes. Moreover, the new modification produced in childhood episodic syndromes is highlighted.

The metabolic syndrome in children and adolescents

PubMed Central

Hadjiyannakis, Stasia

2005-01-01

The metabolic syndrome is a constellation of metabolic abnormalities that result in an increased risk for type 2 diabetes mellitus and cardiovascular disease in adults. It emerges when a person’s predisposition for insulin resistance is worsened by increasing central obesity and is largely confined to the overweight population. The United States National Cholesterol Education Program’s Adult Treatment Panel III report proposed a set of criteria for the clinical diagnosis of metabolic syndrome in the adult population. A uniform definition for the paediatric population is lacking. Despite this, several studies have demonstrated that features of the syndrome develop in childhood and that the syndrome is present in up to 30% of obese children (body mass index at or above the 95th percentile). Ninety per cent of obese children meet at least one of the five criteria. The degree of abnormality is related to the body mass index, waist circumference and fasting insulin levels. There appears to be a genetic predisposition to the development of the syndrome and certain ethnic groups are at increased risk. The intrauterine environment also appears to play a role. Insulin resistance should be targeted for treatment through exercise and dietary intervention. The role of pharmacotherapeutic agents remains unclear. A uniform definition of the metabolic syndrome for paediatric patients needs to be created. Early intervention should be instituted because many of the features of the syndrome track from childhood into adulthood. PMID:19657446

Genetics Home Reference: aromatase excess syndrome

MedlinePlus

... Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of ... of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess ...

Childhood Brain Tumor Epidemiology: A Brain Tumor Epidemiology Consortium Review

PubMed Central

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

2014-01-01

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

[A scale for early assessment of risk of death and myocardial infarction during initial hospitalization of patients with acute coronary syndromes (based on data from the RECORD registry)].

PubMed

Érlikh, A D

2010-01-01

Independent predictors of death and death or myocardial infarction (MI) during initial hospitalization of patients with acute coronary syndromes (ACS) were determined using database of Russian independent ACS registry RECORD. These predictors (admission Killip class II, ST-segment elevation 1 mm, systolic blood pressure 100 mm Hg, hemoglobin <110 g/L, age 65 years, history of diabetes) were attributed equal weight (1 point) and combined in a prognostic scale for assessment of risk of inhospital death and death or MI. The scale did not include markers of necrosis, and the most time consuming component was measurement of hemoglobin. Sensitivity and specificity of risk scores for prediction of death were 78.5%. The use of GRACE score in this group of patients gave similar results. These preliminary data require confirmation on larger populations of patients with ACS.

Leigh syndrome: MRI findings in two children.

PubMed

Kartikasalwah, Al; Lh, Ngu

2010-01-01

Leigh syndrome is a progressive neurodegenerative disorder of childhood. The symmetrical necrotic lesions in the basal ganglia and/or brainstem which appear as hyperintense lesions on T2-weighted MRI is characteristic and one of the essential diagnostic criteria. Recognising this MR imaging pattern in a child with neurological problems should prompt the clinician to investigate for Leigh syndrome. We present here two cases of Leigh syndrome due to different biochemical/genetic defects, and discuss the subtle differences in their MR neuroimaging features.

Nonnatural deaths of adolescents and teenagers: Fulton County, Georgia, 1985-2004.

PubMed

Heninger, Michael; Hanzlick, Randy

2008-09-01

Childhood deaths are carefully scrutinized by many different government agencies, fatality review panels, researchers, and other groups. Many such deaths, especially those that involve external causes such as injury and poisoning, are amenable to prevention. Characterizing the causes and circumstances of nonnatural childhood deaths may provide information that is useful for development of prevention strategies and programs. This is a retrospective review of all nonnatural deaths investigated and certified by the Fulton County Medical Examiner involving persons 10 to 19 years of age during the years 1985-2004, inclusive. Cases were identified by searching electronic death investigation files maintained during the study period. Demographic and circumstantial information were tabulated for homicides, suicides, motor-vehicle fatalities, and other accidental deaths, and crude death rates were calculated for each 5-year period during the study. During the 20 year period there were 961 nonnatural deaths among persons 10 to 19 years of age. Most deaths were due to homicide (48%) followed by motor-vehicle fatalities (30%), suicide (12%), and nontraffic accidental fatalities (10%). Black males had the highest death rates among the homicide, suicide, and nontraffic accidental deaths, although the rates for each of these were lower in the most recent 5 year period than the first 5-year period. The number of deaths increased in each category as age increased, and this observation was most marked for homicides and least marked for nontraffic accidental deaths. Firearms were involved in 88% of homicides and 61% of suicides. Most nontraffic accidental deaths were due to water-related accidents, followed by drug and/or alcohol toxicity, fire-related injuries, and accidental firearms injuries. Homicide accounts for almost half of all deaths among persons 10 to 19 years of age. Black males are at particularly high risk for nonnatural death in comparison with other race/sex groups

Occupational Deaths among Healthcare Workers

PubMed Central

Eisenberg, Leon

2005-01-01

Recent experiences with severe acute respiratory syndrome and the US smallpox vaccination program have demonstrated the vulnerability of healthcare workers to occupationally acquired infectious diseases. However, despite acknowledgment of risk, the occupational death rate for healthcare workers is unknown. In contrast, the death rate for other professions with occupational risk, such as police officer or firefighter, has been well defined. With available information from federal sources and calculating the additional number of deaths from infection by using data on prevalence and natural history, we estimate the annual death rate for healthcare workers from occupational events, including infection, is 17–57 per 1 million workers. However, a much more accurate estimate of risk is needed. Such information could inform future interventions, as was seen with the introduction of safer needle products. This information would also heighten public awareness of this often minimized but essential aspect of patient care. PMID:16022771

[Constitutional mismatch repair deficiency syndrome].

PubMed

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Association between a functional polymorphism in the MAOA gene and sudden infant death syndrome.

PubMed

Klintschar, Michael; Heimbold, Christian

2012-03-01

Abnormalities in the serotonergic as well as the noradrenergic neuronal systems are believed to contribute to sudden infant death syndrome (SIDS). The X-chromosomal monoamine oxidase A (MAOA) gene is of importance for both systems and up to now no systematic study on a functional polymorphism in this gene has been performed in a sufficiently large group. We investigated a functional MAOA promoter length polymorphism in 156 white SIDS cases and 260 gender- and age-matched control subjects by using capillary electrophoresis and fluorescence dye labeled primers. The pooled low-expressing alleles *2 and *3 were more frequent in the 99 male SIDS cases than in 161 male control subjects (44.4% vs 25.5%). However, there were no differences in female cases. The frequency of low expression alleles varied significantly with the age at death and were significantly more frequent in children who died between an age of 46 and 154 days than at an older age (54.9% vs 22.6%). Our results indicate a relationship between SIDS and the MAOA genotype in boys via influencing serotonergic and noradrenergic neurons in the brainstem. This locus is the first X-chromosomal locus associated with SIDS. Our results support the theory that abnormalities in the brainstem contribute to a subset of SIDS, at least in boys. Moreover, we argue that not only the serotonergic system but also other neuronal systems, among those the noradrenergic one, are involved.

Clinical characteristics of childhood guillain-barré syndrome.

PubMed

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

2008-07-01

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. 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. 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. 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.

CHILDHOOD PSYCHOPATHOLOGY MEAUSREMENT SCHEDULE: DEVELOPMENT AND STANDARDIZATION*

PubMed Central

Malhotra, Savita; Varma, V. K.; Verma, S. K.; Malhotra, Anil

1988-01-01

SUMMARY Development and standardization of an instrument Childhood Psychopathology Measurement Schedule (CPMS) to assess psychopathology in children is reported. CPMS is standardized on Indian population and is applicable to children of both sexes in the age range of 4-14 years. It measures overall psychopathology in the form of a total scores and also the type of psychopathology in the form of eight factorially derived syndromes which have satisfactory reliability and validity. CPMS is proposed to be used as a screening instrument in population surveys to identify disturbed children as well as a research tool involving measurement of childhood psychopathology and its classification. PMID:21927332

Utility of the exercise electrocardiogram testing in sudden cardiac death risk stratification.

PubMed

Refaat, Marwan M; Hotait, Mostafa; Tseng, Zian H

2014-07-01

Sudden cardiac death (SCD) remains a major public health problem. Current established criteria identifying those at risk of sudden arrhythmic death, and likely to benefit from implantable cardioverter defibrillators (ICDs), are neither sensitive nor specific. Exercise electrocardiogram (ECG) testing was traditionally used for information concerning patients' symptoms, exercise capacity, cardiovascular function, myocardial ischemia detection, and hemodynamic responses during activity in patients with hypertrophic cardiomyopathy. We conducted a systematic review of MEDLINE on the utility of exercise ECG testing in SCD risk stratification. Exercise testing can unmask suspected primary electrical diseases in certain patients (catecholaminergic polymorphic ventricular tachycardia or concealed long QT syndrome) and can be effectively utilized to risk stratify patients at an increased (such as early repolarization syndrome and Brugada syndrome) or decreased risk of SCD, such as the loss of preexcitation on exercise testing in asymptomatic Wolff-Parkinson-White syndrome. Exercise ECG testing helps in SCD risk stratification in patients with and without arrhythmogenic hereditary syndromes. © 2014 Wiley Periodicals, Inc.

mPneumonia: Development of an Innovative mHealth Application for Diagnosing and Treating Childhood Pneumonia and Other Childhood Illnesses in Low-Resource Settings

PubMed Central

Ginsburg, Amy Sarah; Delarosa, Jaclyn; Brunette, Waylon; Levari, Shahar; Sundt, Mitch; Larson, Clarice; Tawiah Agyemang, Charlotte; Newton, Sam; Borriello, Gaetano; Anderson, Richard

2015-01-01

Pneumonia is the leading infectious cause of death in children worldwide. Each year, pneumonia kills an estimated 935,000 children under five years of age, with most of these deaths occurring in developing countries. The current approach for pneumonia diagnosis in low-resource settings—using the World Health Organization Integrated Management of Childhood Illness (IMCI) paper-based protocols and relying on a health care provider’s ability to manually count respiratory rate—has proven inadequate. Furthermore, hypoxemia—a diagnostic indicator of the presence and severity of pneumonia often associated with an increased risk of death—is not assessed because pulse oximetry is frequently not available in low-resource settings. In an effort to address childhood pneumonia mortality and improve frontline health care providers’ ability to diagnose, classify, and manage pneumonia and other childhood illnesses, PATH collaborated with the University of Washington to develop “mPneumonia,” an innovative mobile health application using an Android tablet. mPneumonia integrates a digital version of the IMCI algorithm with a software-based breath counter and a pediatric pulse oximeter. We conducted a design-stage usability field test of mPneumonia in Ghana, with the goal of creating a user-friendly diagnostic and management tool for childhood pneumonia and other childhood illnesses that would improve diagnostic accuracy and facilitate adherence by health care providers to established guidelines in low-resource settings. The results of the field test provided valuable information for understanding the usability and acceptability of mPneumonia among health care providers, and identifying approaches to iterate and improve. This critical feedback helped ascertain the common failure modes related to the user interface design, navigation, and accessibility of mPneumonia and the modifications required to improve user experience and create a tool aimed at decreasing mortality

Obstructive Sleep Apnea in Patients with Congenital Long QT Syndrome: Implications for Increased Risk of Sudden Cardiac Death.

PubMed

Shamsuzzaman, Abu S; Somers, Virend K; Knilans, Timothy K; Ackerman, Michael J; Wang, Yu; Amin, Raouf S

2015-07-01

Congenital long QT syndrome (LQTS) is a familial arrhythmogenic cardiac channelopathy characterized by prolonged ventricular repolarization and increased risk of torsades de pointes-mediated syncope, seizures, and sudden cardiac death (SCD). QT prolongation corrected for heart rate (QTc) is an important diagnostic and prognostic feature in LQTS. Obstructive sleep apnea (OSA) has been increasingly implicated in the pathogenesis of cardiovascular disease, including arrhythmias and SCD. We tested the hypothesis that the presence of concomitant OSA in patients with LQTS is associated with increased QT intervals, both during sleep and while awake. Polysomnography with simultaneous overnight 12-lead electrocardiography (ECG) was recorded in 54 patients with congenital LQTS and 67 control subjects. OSA was diagnosed as apnea-hypopnea index (AHI) ≥ 5 events/h for adults and AHI > 1 event/h for children. RR and QT intervals were measured from the 12-lead surface ECG. QTc was determined by the Bazett formula. Respiratory disturbance index, AHI, and arousal index were significantly increased in patients with LQTS and with OSA compared to those without OSA and control subjects. QTc during different sleep stages and while awake was also significantly increased in patients with LQTS and OSA compared to those without OSA. Severity of OSA in patients with LQTS was directly associated with the degree of QTc. The presence and severity of obstructive sleep apnea (OSA) in patients with congenital long QT syndrome (LQTS) is associated with increased QT prolongation corrected for heart rate, which is an important biomarker of sudden cardiac death (SCD). Treatment of OSA in LQTS patients may reduce QT prolongation, thus reducing the risk of LQT-triggered SCD. © 2015 Associated Professional Sleep Societies, LLC.

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…

75 FR 25862 - Proposed Data Collections Submitted for Public Comment and Recommendations

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-10

... obesity, and even childhood leukemia and sudden infant death syndrome (SIDS). However, the groups that are at higher risk for diabetes, obesity, and poor health overall persistently have the lowest...

75 FR 58394 - Agency Forms Undergoing Paperwork Reduction Act Review

Federal Register 2010, 2011, 2012, 2013, 2014

2010-09-24

... obesity, and even childhood leukemia and sudden infant death syndrome (SIDS). However, the groups that are at higher risk for diabetes, obesity, and poor health overall persistently have the lowest...

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

Death and AIDS: A Review of the Medico-Legal Literature.

ERIC Educational Resources Information Center

Huber, Jeffrey T.

1993-01-01

Notes that diagnosis of Acquired Immune Deficiency Syndrome (AIDS) continues to denote death sentence. Contends that AIDS is unique terminal illness in that no other single disease in history of American legal system has generated more litigation than AIDS. Examines medico-legal issues associated with AIDS-related death: estate planning,…

Progressive liver failure post acute hepatitis A, over a three-month period, resulting in hepatorenal syndrome and death

PubMed Central

Al Saadi, Tareq; Sawaf, Bisher; Alkhatib, Mahmoud; Zakaria, Mhd Ismael; Daaboul, Bisher

2017-01-01

Abstract Hepatitis A is a common viral illness worldwide. It usually results in an acute, self-limiting disease and only rarely leads to fulminant hepatic failure or any other complications. During the period of conflict in Syria, and due to the damages to water infrastructure and poor sanitation, a dramatic increase in hepatitis A virus infection has been documented. Here we report a rare case of a 14-year-old male whose hepatitis A was complicated with hepatorenal syndrome and subacute liver failure. The war condition in Syria impeded transportation of the patient to a nearby country for liver transplantation, contributing to his unfortunate death. PMID:27247182

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

Early parental adjustment and bereavement after childhood cancer death.

PubMed

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

2009-07-01

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: (1) Perception of the Child, describing bereavement and adjustment prior to and after the loss; (2) Perception of Others, including relationships with partners, surviving children, and their social network; and (3) Perception of the World, exploring parents' perceived meanings of the experience in the context of their worldview. Domains are illustrated by quotes. Profiles of parental bereavement emerged.

Air pollution and infant death in southern California, 1989-2000.

PubMed

Ritz, Beate; Wilhelm, Michelle; Zhao, Yingxu

2006-08-01

We evaluated the influence of outdoor air pollution on infant death in the South Coast Air Basin of California, an area characterized by some of the worst air quality in the United States. Linking birth and death certificates for infants who died between 1989 and 2000, we identified all infant deaths, matched 10 living control subjects to each case subject, and assigned the nearest air monitoring station to each birth address. For all subjects, we calculated average carbon monoxide, nitrogen dioxide, ozone, and particulate matter < 10 microm in aerodynamic diameter exposures experienced during the 2-week, 1-month, 2-month, and 6-month periods before a case subject's death. The risk of respiratory death increased from 20% to 36% per 1-ppm increase in average carbon monoxide levels 2 weeks before death in early infancy (age: 28 days to 3 months). We also estimated 7% to 12% risk increases for respiratory deaths per 10-microg/m3 increase in particulate matter < 10 microm in aerodynamic diameter exposure experienced 2 weeks before death for infants 4 to 12 months of age. Risk of respiratory death more than doubled for infants 7 to 12 months of age who were exposed to high average levels of particulates in the previous 6 months. Furthermore, the risk of dying as a result of sudden infant death syndrome increased 15% to 19% per 1-part per hundred million increase in average nitrogen dioxide levels 2 months before death. Low birth weight and preterm infants seemed to be more susceptible to air pollution-related death resulting from these causes; however, we lacked statistical power to confirm this heterogeneity with formal testing. Our results add to the growing body of literature implicating air pollution in infant death from respiratory causes and sudden infant death syndrome and provide additional information for future risk assessment.

[Prevalence of Down syndrome using certificates of live births and fetal deaths in México 2008-2011].

PubMed

Sierra Romero, María Del Carmen; Navarrete Hernández, Eduardo; Canún Serrano, Sonia; Reyes Pablo, Aldelmo E; Valdés Hernández, Javier

Down syndrome (DS) or trisomy 21 is the most common genetic cause of mental retardation with the clinical presentation of a series of well-defined characteristics. Advanced maternal age has been associated with DS. The databases of all the certificates of live births and fetal deaths in Mexico were combined. Codes based on the International Classification of Diseases 10 th Revision (ICD-10) in Chapter XVII "Congenital malformations, deformations and chromosomal abnormalities" were selected. A database of 8,250,375 births during the period 2008-2011 was constructed: 99.2% were live births with 0.8% of fetal deaths and 3,076 cases diagnosed with DS. The importance of this report is to initiate an epidemiological surveillance of newborn cases of DS nationwide and by state using census information systems available in the country since 2008. An increased risk has been observed for having a child with DS since the mother is ≥ 35 years, as has been reported in other studies. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention

PubMed Central

De Paz, Juan F.; Barriuso, Alberto L.

2018-01-01

Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL) play an important role in today’s personalized health-care services. The majority of these systems are intended for the monitoring of patients’ vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home’s environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising. PMID:29498653

A Context-Aware Indoor Air Quality System for Sudden Infant Death Syndrome Prevention.

PubMed

De La Iglesia, Daniel H; De Paz, Juan F; Villarrubia González, Gabriel; Barriuso, Alberto L; Bajo, Javier

2018-03-02

Context-aware monitoring systems designed for e-Health solutions and ambient assisted living (AAL) play an important role in today's personalized health-care services. The majority of these systems are intended for the monitoring of patients' vital signs by means of bio-sensors. At present, there are very few systems that monitor environmental conditions and air quality in the homes of users. A home's environmental conditions can have a significant influence on the state of the health of its residents. Monitoring the environment is the key to preventing possible diseases caused by conditions that do not favor health. This paper presents a context-aware system that monitors air quality to prevent a specific health problem at home. The aim of this system is to reduce the incidence of the Sudden Infant Death Syndrome, which is triggered mainly by environmental factors. In the conducted case study, the system monitored the state of the neonate and the quality of air while it was asleep. The designed proposal is characterized by its low cost and non-intrusive nature. The results are promising.

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. Copyright © 2015 Elsevier Inc. All rights reserved.

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

Diagnostic approach and management strategy of childhood stroke.

PubMed

Salih, Mustafa A; Abdel-Gader, Abdel-Galil M

2006-03-01

Prompt recognition and early intervention, with pertinent management and medication, may reduce subsequent neurologic deficits in stroke, which constitutes a devastating event in children. This is due to the tasking and demanding consequences including death or residual neurological deficits, which may last for many decades, in over 60% of survivors. Evidence-based treatment for children with stroke is still lacking, reflecting scarcity in baseline epidemiological data on pediatric stroke, the multitude of underlying risk factors, and the ethical and practical challenges incurred in conducting clinical trials. Based on the experience we gained from a combined prospective and retrospective study on childhood stroke (covering 10 years and 7 months and involving a cohort of 104 Saudi children), a diagnostic algorithm, which outlines the approach to a child with suspected stroke/cerebrovascular lesion, was designed. This algorithm might also be of use for managing other children with stroke from the Arabian Peninsula and Middle Eastern Region with similar demographic, socioeconomic, and ethnic backgrounds. Underlying risk factors, which need special attention, include thrombophilia and hypercoagulable states and sickle cell disease (SCD), which contrary to previous studies from Saudi Arabia, were found to constitute a common risk factor with severe manifestations. Other risk factors include infections (especially neurobrucellosis), cardiac diseases, and hypernatremic dehydration. Recognition of an identifiable syndrome or inherited metabolic cause may unravel an underlying cerebrovascular disease. This is particularly important in this region, given the large pool of autosomal recessive diseases and the high rate of consanguinity. In the evaluation of a suspected case of stroke, important imaging modalities include cranial CT, MRI (including diffusion-weighted images), magnetic resonance angiography (MRA), magnetic resonance venography (MRV) and conventional

Polycystic Ovary Syndrome in Adolescence

PubMed Central

Buggs, Colleen; Rosenfield, Robert L.

2012-01-01

Polycystic ovary syndrome (PCOS) is a syndrome of variable combinations of menstrual irregularity, hirsutism or acne, and obesity. It can be diagnosed in adolescence and has early childhood antecedents. PCOS is the single most common endocrine cause of anovulatory infertility and a major risk factor for the metabolic syndrome and, in turn, development of type 2 diabetes mellitus (T2DM) in women. Thus, it appears that PCOS increases a woman’s risk of developing cardiovascular disease. Therefore, identifying girls at risk for PCOS and implementing treatment early in the development of PCOS may be an effective means of preventing some of the long-term complications associated with this syndrome. This article reviews the definition, clinical features, diagnosis, and treatment of PCOS. PMID:16085166

Childhood maltreatment in children born of occupation after WWII in Germany and its association with mental disorders.

PubMed

Glaesmer, Heide; Kuwert, Philipp; Braehler, Elmar; Kaiser, Marie

2017-07-01

Children born of war are a common phenomenon of conflict. In the aftermath of World War II, more than 200,000 German occupation children (GOC) were fathered by occupation soldiers and born to local women. GOC often grew up under difficult conditions and showed high prevalence rates of mental disorders even decades later. Experiences of childhood maltreatment and their association with Posttraumatic Stress Disorder (PTSD), depression, and somatization in GOC (N = 146) are investigated and compared with a representative birth-cohort-matched sample (BCMS) from the German general population (N = 920). Outcomes show significantly higher prevalence rates of emotional abuse/neglect, physical, and sexual abuse in GOC compared to BCMS. All five subtypes of childhood maltreatment increase the risk of PTSD and somatoform syndrome; depressive syndromes are associated with emotional abuse/neglect and physical abuse. GOC were at high risk of childhood maltreatment. Findings underline the complex, long-term impact of developmental conditions and childhood maltreatment on mental disorders even decades later.

Unnatural Deaths Among Children and Adolescents in Isfahan Province, Iran: A Forensic Epidemiology Study of Postmortem Data.

PubMed

Holakouie-Naieni, Kourosh; Koehler, Steven A; Karimi, Roya; Mardani, Fardin; Karimi, Jalal

2016-01-01

The issue of child and adolescent injury and violence is often absent from discussions and is largely invisible in public health policies. The purpose of this study was to describe the frequency and pattern of unnatural deaths during childhood and adolescence in Isfahan province in Iran. This retrospective, descriptive study involved unnatural deaths among individuals under the age of 20 years who died from unnatural causes as determined by a forensic autopsy at the Legal Medicine Center of Isfahan. During the study period, 8,010 unnatural deaths occurred, 1,222 of which were individuals under 20 years old. All 1,222 of these unnatural deaths were identified through autopsy. Among the 1,222 cases, 895 (73.2%) were male, and 327 were female (26.8%). Accidental deaths were found to be the most frequent manner of death comprising 1,029 (83.96%) cases, followed by suicide (120, 9.82%), undetermined cause of death (39, 3.19%), and homicide (9, 2.86%) cases. Road traffic accidents were the number 1 cause of death (597, 49%), followed by burns (122, 10%) and hanging (90, 7.4%). Injuries and violence that occur during childhood and adolescence represent a global public health problem, especially in low- and middle-income regions, and require urgent action.

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.

PubMed

Benzinou, Michael; Walley, Andrew; Lobbens, Stephan; Charles, Marie-Aline; Jouret, Béatrice; Fumeron, Frédéric; Balkau, Beverley; Meyre, David; Froguel, Philippe

2006-10-01

Bardet-Biedl syndrome (BBS) is a rare developmental disorder with the cardinal features of abdominal obesity, retinopathy, polydactyly, cognitive impairment, renal and cardiac anomalies, hypertension, and diabetes. BBS is genetically heterogeneous, with nine genes identified to date and evidence for additional loci. In this study, we performed mutation analysis of the coding and conserved regions of BBS1, BBS2, BBS4, and BBS6 in 48 French Caucasian individuals. Among the 36 variants identified, 12 were selected and genotyped in 1,943 French-Caucasian case subjects and 1,299 French-Caucasian nonobese nondiabetic control subjects. Variants in BBS2, BBS4, and BBS6 showed evidence of association with common obesity in an age-dependent manner, the BBS2 single nucleotide polymorphism (SNP) being associated with common adult obesity (P = 0.0005) and the BBS4 and BBS6 SNPs being associated with common early-onset childhood obesity (P = 0.0003) and common adult morbid obesity (0.0003 < P < 0.007). The association of the BBS4 rs7178130 variant was found to be supported by transmission disequilibrium testing (P = 0.006). The BBS6 variants also showed nominal evidence of association with quantitative components of the metabolic syndrome (e.g., dyslipidemia, hyperglycemia), a complication previously described in BBS patients. In summary, our preliminary data suggest that variations at BBS genes are associated with risk of common obesity.

Coronary artery dilatation in toxic shock-like syndrome: the Kawasaki disease shock syndrome.

PubMed

Yim, Deane; Ramsay, James; Kothari, Darshan; Burgner, David

2010-11-01

Kawasaki disease is a common systemic vasculitis of childhood that may result in life-threatening coronary artery abnormalities. Despite an overlap of clinical features with toxic shock syndrome, children with Kawasaki disease generally do not develop shock. We report two cases of older children who presented with a toxic shock-like illness, and were diagnosed with Kawasaki disease when coronary artery abnormalities were found on echocardiography, in keeping with the recently described 'Kawasaki disease shock syndrome'. Clinicians should consider Kawasaki disease in all children presenting with toxic shock and assess for coronary artery damage.

Common and Distinctive Patterns of Cognitive Dysfunction in Children With Benign Epilepsy Syndromes.

PubMed

Cheng, Dazhi; Yan, Xiuxian; Gao, Zhijie; Xu, Keming; Zhou, Xinlin; Chen, Qian

2017-07-01

Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes are the most common forms of benign epilepsy syndromes. Although cognitive dysfunctions occur in children with both childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes, the similarity between their patterns of underlying cognitive impairments is not well understood. To describe these patterns, we examined multiple cognitive functions in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. In this study, 43 children with childhood absence epilepsy, 47 children with benign childhood epilepsy with centrotemporal spikes, and 64 control subjects were recruited; all received a standardized assessment (i.e., computerized test battery) assessing processing speed, spatial skills, calculation, language ability, intelligence, visual attention, and executive function. Groups were compared in these cognitive domains. Simple regression analysis was used to analyze the effects of epilepsy-related clinical variables on cognitive test scores. Compared with control subjects, children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes showed cognitive deficits in intelligence and executive function, but performed normally in language processing. Impairment in visual attention was specific to patients with childhood absence epilepsy, whereas impaired spatial ability was specific to the children with benign childhood epilepsy with centrotemporal spikes. Simple regression analysis showed syndrome-related clinical variables did not affect cognitive functions. This study provides evidence of both common and distinctive cognitive features underlying the relative cognitive difficulties in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. Our data suggest that clinicians should pay particular attention to the specific cognitive deficits in

Surgical repair of supravalvular aortic stenosis in children with williams syndrome: a 30-year experience.

PubMed

Fricke, Tyson A; d'Udekem, Yves; Brizard, Christian P; Wheaton, Gavin; Weintraub, Robert G; Konstantinov, Igor E

2015-04-01

Williams syndrome is an uncommon genetic disorder associated with supravalvular aortic stenosis (SVAS) in childhood. We reviewed outcomes of children with Williams syndrome who underwent repair of SVAS during a 30-year period at a single institution. Between 1982 and 2012, 28 patients with Williams syndrome were operated on for SVAS. Mean age at operation was 5.2 years (range, 3 months to 13 years), and mean weight at operation was 18.6 kg (range, 4.1 to 72.4 kg). Associated cardiac lesions in 11 patients (39.3%) were repaired at the time of the SVAS repair. The most common associated cardiac lesion was main pulmonary artery stenosis (8 of 28 [28%]). A 3-patch repair was performed in 10 patients, a Doty repair in 17, and a McGoon repair in 1 (3.6%). There were no early deaths. Follow-up was 96% complete (27 of 28). Overall mean follow-up was 11.2 years (range, 1 month to 27.3 years). Mean follow-up was 5 years (range, 1 month to 14.3 years) for the 3-patch repair patients and 14.7 years (range, 6 weeks to 27 years) for the Doty repair patients. Of the 17 Doty patients, there were 4 (24%) late deaths, occurring at 6 weeks, 3.5 years, 4 years, and 16 years after the initial operation. There were no late deaths in the 3-patch repair patients. Overall survival was 86% at 5, 10, and 15 years after repair. Survival was 82% at 5, 10 and 15 years for the Doty repair patients. Overall, 6 of 27 patients (22%) patients required late reoperation at a mean of 11.2 years (range, 3.6 to 23 years). No 3-patch repair patients required reoperation. Overall freedom from reoperation was 91% at 5 years and 73% at 10 and 15 years. Freedom from reoperation for the Doty repair patients was 93% at 5 years and 71% at 10 and 15 years. Surgical repair of SVAS in children Williams syndrome has excellent early results. However, significant late mortality and morbidity warrants close follow-up. Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights

The effect of the weekend on the risk of sudden infant death syndrome.

PubMed

Spiers, P S; Guntheroth, W G

1999-11-01

The risk of sudden infant death syndrome (SIDS) is associated strongly with socioeconomic status. However, many infants who live in one socioeconomic environment, with its attendant level of risk of SIDS over the weekend, often are exposed to a different level of risk during the work week (because of day care for the infant). If the association between SIDS and socioeconomic status acts through the quality of supervision of the infant, then there could be an immediate change in the level of risk as the infant moves from home to outside care to home again. In this scenario, infants of economically disadvantaged parents would have a higher risk of SIDS over the weekend than they do during the week. On the other hand, infants of economically advantaged parents would be at lower risk over the weekend. Therefore, the relative risk of SIDS associated with the weekend (risk over the weekend vs risk during the work week) should be found to decrease as the number of years of maternal education (a surrogate for socioeconomic status) increases. Testing this prediction is the objective of the study. Instances of SIDS in the postneonatal period (28-364 days) among the cohort of all infants born in the United States between January 1989 and December 1991 were analyzed. The number 798.0, taken from the International Classification of Diseases, was used to identify 14 996 cases of SIDS. Deaths among hospital patients were distinguished from all other deaths. The latter were divided into four categories: 1) death occurred in the emergency department; 2) the infant was dead on arrival at the emergency department; 3) death occurred at a residence; and 4) death occurred at some other place. Maternal education was divided into four categories: <12, 12, 13 to 15, and >/=16 years. The weekend ratio was defined as the ratio of SIDS cases on Saturday and Sunday (times 5) and Monday through Friday (times 2). The predicted trend in this ratio by maternal education was tested by applying a

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

PubMed Central

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

2017-01-01

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

Sickle cell trait and sudden death--bringing it home.

PubMed Central

Mitchell, Bruce L.

2007-01-01

Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individuals with sickle cell trait. Images Figure 1 Figure 2 PMID:17393956

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…

Importance of updating family cancer history in childhood cancer survivors.

PubMed

Russo, Selena; Warby, Meera; Tucker, Katherine M; Wakefield, Claire E; Cohn, Richard J

2017-10-01

Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

Joint hypermobility syndrome in childhood. A not so benign multisystem disorder?

PubMed

Adib, N; Davies, K; Grahame, R; Woo, P; Murray, K J

2005-06-01

complaint. The average age at onset of symptoms was 6.2 yr and age at diagnosis 9.0 yr, indicating a 2- to 3-yr delay in diagnosis. The major presenting complaint was arthralgia in 74%, abnormal gait in 10%, apparent joint deformity in 10% and back pain in 6%. Mean age at first walking was 15.0 months; 48% were considered "clumsy" and 36% as having poor coordination in early childhood. Twelve per cent had "clicky" hips at birth and 4% actual congenital dislocatable hip. Urinary tract infections were present in 13 and 6% of the female and male cases, respectively. Thirteen and 14%, respectively, had speech and learning difficulties diagnosed. A history of recurrent joint sprains was seen in 20% and actual subluxation/dislocation of joints in 10%. Forty per cent had experienced problems with handwriting tasks, 48% had major limitations of school-based physical education activities, 67% other physical activities and 41% had missed significant periods of schooling because of symptoms. Forty-three per cent described a history of easy bruising. Examination revealed that 94% scored > or =4/9 on the Beighton scale for generalized hypermobility, with knees (92%), elbows (87%), wrists (82%), hand metacarpophalangeal joints (79%), and ankles (75%) being most frequently involved. JHS is poorly recognized in children with a long delay in the time to diagnosis. Although there is a referral bias towards joint symptoms, a surprisingly large proportion is associated with significant neuromuscular and motor development problems. Our patients with JHS also show many overlap features with genetic disorders such as EDS and Marfan syndrome. The delay in diagnosis results in poor control of pain and disruption of normal home life, schooling and physical activities. Knowledge of the diagnosis and simple interventions are likely to be highly effective in reducing the morbidity and cost to the health and social services.

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.

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

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases.

PubMed

Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula

2017-04-01

Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death. In this study, we performed whole-exome sequencing (WES) in 161 European SIDS infants with focus on 192 genes associated with cardiovascular and metabolic diseases. Potentially causative variants were detected in 20% of the SIDS cases. The majority of infants had variants with likely functional effects in genes associated with channelopathies (9%), followed by cardiomyopathies (7%) and metabolic diseases (1%). Although lethal arrhythmia represents the most plausible and likely cause of death, the majority of SIDS cases still remains elusive and might be explained by a multifactorial etiology, triggered by a combination of different genetic and environmental risk factors. As WES is not substantially more expensive than a targeted sequencing approach, it represents an unbiased screening of the exome, which could help to investigate different pathogenic mechanisms within the genetically heterogeneous SIDS cohort. Additionally, re-analysis of the datasets provides the basis to identify new candidate genes in sudden infant death.

The molecular autopsy: an indispensable step following sudden cardiac death in the young?

PubMed Central

Boczek, Nicole J.; Tester, David J.; Ackerman, Michael J.

2013-01-01

Annually thousands of sudden deaths involving young individuals (< 35 years of age) remain unexplained following a complete medicolegal investigation that includes an autopsy. In fact, epidemiological studies have estimated that over half of sudden deaths involving previously healthy young individuals have no morphological abnormalities identifiable at autopsy. Cardiac channelopathies associated with structurally normal hearts such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS), leave no evidence to be found at autopsy, leaving investigators to only speculate that a lethal arrhythmia might lie at the heart of a sudden unexplained death (SUD). In cases of autopsy-negative SUD, continued investigation, through the use of a cardiological and genetic evaluation of first- or second-degree relatives and/or a molecular autopsy, may pinpoint the underlying mechanism attributing to the sudden death and allow for the identification of living family members with the pathogenic substrate that renders them vulnerable to an increased risk for cardiac events, including sudden death. PMID:22993115

Benign paroxysmal vertigo of childhood: A review of the literature

PubMed Central

Batson, Glenna

2004-01-01

Childrens’ complaints of headache and dizziness merit careful evaluation to differentially diagnose a vestibular disorder. Children can manifest with a syndrome mimicking certain classic signs and symptoms of adult vestibular disorders, such as benign paroxysmal positional vertigo, usually associated with aging. Benign paroxysmal vertigo of childhood in which migraine is a key manifestation along with sudden onset of dizziness, is a rare peripheral vestibular disorder in children that is commonly overlooked or misdiagnosed. This review covers the historical development of the diagnosis, evaluation and treatment approaches of benign paroxysmal vertigo of childhood. PMID:19654978

Death following ingestion of MDMA (ecstasy) and moclobemide.

PubMed

Vuori, Erkki; Henry, John A; Ojanperä, Ilkka; Nieminen, Raija; Savolainen, Taru; Wahlsten, Pia; Jäntti, Matti

2003-03-01

Four deaths following the ingestion of moclobemide and MDMA ('ecstasy') are described. The probable cause of death in each case was serotonin syndrome as a result of an interaction between the two drugs. As none of the victims had been prescribed moclobemide it seems that each had taken the drug to enhance the effects of MDMA, with fatal consequences. Warnings are needed against misinformed attempts to potentiate the pharmacological effects of illicit drugs.

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.

The expression of death decoy receptor 3 was increased in the patients with primary Sjögren's syndrome.

PubMed

Liu, Jinlin; Zhao, Zhao; Zou, Yuqiong; Zhang, Mei; Zhou, Yonglie; Li, Yasong; Pang, Zhenzhen; Jin, Weidong

2015-05-01

Previous studies suggested a pathological role for the death decoy receptor 3 (DcR3) in systemic lupus erythematosus (SLE) and rheumatic arthritis (RA). Herein, the expression of DcR3 in primary Sjögren's syndrome (pSS) and the relationship with clinical characteristics were investigated. The serum DcR3 levels of pSS patients and healthy controls were measured by ELISA. Pearson's correlation analysis was used to evaluate the relationship between the DcR3 levels with the clinical characterstics of pSS patients. Additionally, the DcR3 expression in salivary glands of pSS patients was investigated by the immunohistochemistry method. The serum DcR3 expression in pSS patients was significantly higher than healthy controls (p < 0.001), especially in new onset pSS patients (p = 0.036). Moreover, Pearson's correlation analysis show that DcR3 levels were positively correlated with age (p = 0.013), platelet (PLT) (p = 0.002), hemoglobin (Hb) (p = 0.004), Sjögren's syndrome disease damage activity index (SSDAI) score (p = 0.005), Sjögren's syndrome disease damage index (SSDDI) score (p < 0.001) and EULAR Sjögren's syndrome disease activity index (ESSDAI) score (p = 0.010). Furthermore, the DcR3 levels were significantly lower when the pSS patients were treated with the disease-modifying anti-rheumatic drugs. At last, DcR3 expression in salivary glands of pSS patients was significantly higher than healthy controls. The DcR3 expression was significantly elevated in the pSS patients and positively correlated with the clinical characteristics, and it might be an important factor involved in the progression of pSS patients and could be a potential therapeutic target.

Childhood leukemia mortality and farming exposure in South Korea: A national population-based birth cohort study.

PubMed

Cha, Eun Shil; Hwang, Seung-sik; Lee, Won Jin

2014-08-01

The aim of this study was to evaluate the relationship between leukemia mortality and exposure to farming among children in South Korea. A retrospective cohort study of South Korean children was conducted using data collected by the national birth register between 1995 and 2006; these data were then individually linked to death data. A cohort of 6,479,406 children was followed from birth until either their death or until December 31, 2006. For surrogate measures of pesticide exposure, we used residence at birth, paternal occupation, and month of conception from the birth certificate. Farming and pesticide exposure indexes by county were calculated using information derived from the 2000 agricultural census. Poisson regression analyses were used to calculate rate ratios (RRs) of childhood leukemia deaths according to indices of exposure to agricultural pesticides after adjustment for potential confounders. In total 585 leukemia deaths were observed during the study period. Childhood leukemia mortality was significantly elevated in children born in rural areas (RR=1.43, 95%CI 1.09-1.86) compared to those in metropolises, and in counties with both the highest farming index (RR=1.33, 95%CI 1.04-1.69) and pesticide exposure index (RR=1.30, 95%CI 1.02-1.66) compared to those in the reference group. However, exposure-response associations were significant only in relation to the farming index. When the analyses were limited to rural areas, the risk of death from leukemia among boys conceived between spring and fall increased over those conceived in winter. Our results show an increase in mortality from childhood leukemia in rural areas; however, further studies are warranted to investigate the environmental factors contributing to the excess mortality from childhood leukemia in rural areas. Copyright © 2014 Elsevier Ltd. All rights reserved.

SUDEP and other causes of mortality in childhood-onset epilepsy.

PubMed

Sillanpää, Matti; Shinnar, Shlomo

2013-08-01

There are few prospective studies on the causes of mortality in well-characterized cohorts with epilepsy and even fewer that have autopsy data that allow for reliable determination of SUDEP. We report causes of mortality and mortality rates in the Finnish cohort with childhood-onset epilepsy. A population-based cohort of 245 children with epilepsy in 1964 has been prospectively followed for almost 40 years. Seizure outcomes and mortality were assessed. Autopsy data were available in 70% of the cases. Sudden unexpected death in epilepsy (SUDEP) rates were assessed, and SUDEP was confirmed by autopsy. During the follow-up, 60 subjects died. The major risk factor for mortality was lack of terminal remission (p < 0.0001). Remote symptomatic etiology also increased the risk for death (p < 0.0001) but did not remain significant on multivariate analysis after adjusting for effect of remission. Of the deaths, 33/60 (55%) were epilepsy-related including SUDEP in 23/60 (38%) using the Nashef criteria, status epilepticus in 4/60 (7%), and accidental drowning in 6/60 (10%). The nonepilepsy-related deaths occurred primarily in the remote symptomatic group and were often related to the underlying disorder or to medical comorbidities that developed after the onset of the epilepsy. Risk factors for SUDEP on multivariable analysis included lack of 5-year terminal remission and not having a localization-related epilepsy. In cryptogenic/idiopathic cases, SUDEP did not occur in childhood but begins only in adolescence. Childhood-onset epilepsy is associated with a substantial risk of epilepsy-related mortality, primarily SUDEP. In otherwise neurologically normal individuals, the increased SUDEP risk begins in adolescence. The higher mortality rates reported in this cohort are related to duration of follow-up as most of the mortality occurs many years after the onset of the epilepsy. Copyright © 2013 Elsevier Inc. All rights reserved.

Childhood leukemia and traffic air pollution in Taiwan: petrol station density as an indicator.

PubMed

Weng, Hsu-Huei; Tsai, Shang-Shyue; Chiu, Hui-Fen; Wu, Trong-Neng; Yang, Chun-Yuh

2009-01-01

To investigate the relationship between traffic air pollution exposure and development of childhood leukemia (14 yr of age or younger), a matched case-control study was conducted using childhood deaths that occurred in Taiwan from 1996 through 2006. Data on all eligible childhood leukemia deaths were obtained from the Bureau of Vital Statistics of the Taiwan Provincial Department of Health. The control group consisted of children who died from causes other than neoplasms or diseases that were not associated with respiratory complications. The controls were pair matched to the cancer cases by gender, year of birth, and year of death. Each matched control was selected randomly from the set of possible controls for each case. Data on the number of petrol stations in study municipalities were collected from the two major petroleum supply companies, Chinese Petroleum Corporation (CPC) and Formosa Petrochemical Corporation (FPCC). The petrol station density (per square kilometer) (PSD) for study municipalities was used as an indicator of a subject's exposure to benzene and other hydrocarbons present in evaporative losses of petrol or to air emissions from motor vehicles. The subjects were divided into tertiles according to PSD in their residential municipality. The results showed that there was a significant exposure-response relationship between PSD and the risk of leukemia development in young children after controlling for possible confounders. The findings of this study warrant further investigation of the role of traffic air pollution exposure in the etiology of childhood leukemia.

Genetics Home Reference: Sjögren-Larsson syndrome

MedlinePlus

... view the expand/collapse boxes. Description Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood ...

Childhood obesity in America.

PubMed

Van Grouw, Jacqueline M; Volpe, Stella L

2013-10-01

To provide an overview of the current advances in childhood obesity physiology, intervention, and prevention. Structural and functional brain impairments are present in obese adolescents with metabolic syndrome (MetS). Aerobic training for 20 or 40 min per day produced similar affects on metabolic risk factors. Vitamin D supplementation has been shown to improve the metabolic risk factors in obese children; however, obese children require greater doses to treat vitamin D deficiency. A 10-week community-based exergaming weight management program significantly decreased the BMI in obese children. There is surmounting research on MetS and its associated risk factors in obese children. Gaining a comprehensive overview of the factors associated with obesity in children is crucial in developing the most effective intervention strategies. Community-based and family-centered interventions have generated positive results in reducing children's BMI and improving MetS risk factors. In addition to obesity intervention efforts, ongoing prevention initiatives are imperative to reduce the prevalence of childhood obesity.

Understanding Death in Children With Epilepsy.

PubMed

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

2017-05-01

Death in children with epilepsy is profoundly disturbing, with lasting effects on the family, community, and health care providers. The overall risk of death for children with epilepsy is about ten times that of the general population. However, the risk of premature death for children without associated neurological comorbidities is similar to that of the general population, and most deaths are related to the cause of the epilepsy or associated neurological disability, not seizures. The most common cause of seizure-related death in children with epilepsy is sudden unexpected death in epilepsy (SUDEP). SUDEP is relatively uncommon in childhood, but the risk increases if epilepsy persists into adulthood. Although the direct cause of SUDEP remains unknown, most often death follows a generalized convulsive seizure and the risk of SUDEP is strongly related to drug-resistant epilepsy and frequent generalized tonic-clonic seizures. The most effective SUDEP prevention strategy is to reduce the frequency of seizures, although a number of seizure detection devices are under development and in the future may prove to be useful for seizure detection for those at particularly high risk. There are distinct benefits for health care professionals to discuss mortality with the family soon after the diagnosis of epilepsy. An individual approach is appropriate. When a child with epilepsy dies, particularly if the death was unexpected, family grief may be profound. Physicians and other health care professionals have a critical role in supporting families that lose a child to epilepsy. This review will provide health care providers with information needed to discuss the risk of death in children with epilepsy and support families following a loss. Copyright © 2017 Elsevier Inc. All rights reserved.

Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

PubMed

Byard, Roger W

2016-05-01

A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.

[Pathology of crush syndrome].

PubMed

Zimina, L N; Zvedina, M V; Musselius, S G; Vacina, T A

1995-01-01

Clinico-anatomical analysis of surgical material (32 cases) and 86 autopsy cases of myorenal syndrome (crush syndrome) is presented. Clinically in all cases there were symptoms of acute renal (hepatico-renal) failure which was a cause of death during the first 2 weeks. Septic complications were a cause of death at later periods. Grave alterations of traumatic, metabolic and septic origin were found in many organs in all cases. The sources of sepsis were decompressing longitudinal cuts and fasciotomies, shunts, lacerated wounds, catheters. Combined local treatment of wounds with sorbents, antibiotics, proteolytic enzymes, quantum therapy facilitated the destruction of bacteria and loss of their activity, wound purification and thus allowed coping with septic complications.

State of the art in forensic investigation of sudden cardiac death.

PubMed

Oliva, Antonio; Brugada, Ramon; D'Aloja, Ernesto; Boschi, Ilaria; Partemi, Sara; Brugada, Josep; Pascali, Vincenzo L

2011-03-01

The sudden death of a young person is a devastating event for both the family and community. Over the last decade, significant advances have been made in understanding both the clinical and genetic basis of sudden cardiac death. Many of the causes of sudden death are due to genetic heart disorders, which can lead to both structural (eg, hypertrophic cardiomyopathy) and arrhythmogenic abnormalities (eg, familial long QT syndrome, Brugada syndrome). Most commonly, sudden cardiac death can be the first presentation of an underlying heart problem, leaving the family at a loss as to why an otherwise healthy young person has died. Not only is this a tragic event for those involved, but it also presents a great challenge to the forensic pathologist involved in the management of the surviving family members. Evaluation of families requires a multidisciplinary approach, which should include cardiologists, a clinical geneticist, a genetic counselor, and the forensic pathologist directly involved in the sudden death case. This multifaceted cardiac genetic service is crucial in the evaluation and management of the clinical, genetic, psychological, and social complexities observed in families in which there has been a young sudden cardiac death. The present study will address the spectrum of structural substrates of cardiac sudden death with particular emphasis given to the possible role of forensic molecular biology techniques in identifying subtle or even merely functional disorders accounting for electrical instability.

Predictors of intractable childhood epilepsy.

PubMed

Seker Yilmaz, Berna; Okuyaz, Cetin; Komur, Mustafa

2013-01-01

Our study sought to identify early predictive factors of medically intractable childhood epilepsy. A cohort of epileptic children from the city of Mersin was retrospectively investigated. All patients received care from the same Department of Pediatric Neurology. The epileptic cohort was divided into a drug-responsive epilepsy group and an intractable epilepsy group. Intractable epilepsy is defined as continued seizures in children despite adequate therapy with two or more antiepileptic drugs for more than 18 months. Strong univariate association was observed between intractability and several factors: age of onset, high initial seizure frequency, symptomatic etiology, mixed seizure types, previous history of status epilepticus, febrile and neonatal seizures, mental and motor developmental delay, multiple seizures in 1 day, electroencephalogram abnormalities, magnetic resonance imaging findings, and specific epileptic syndromes. Logistic regression analysis revealed that a previous history of epilepticus status, abnormal electroencephalogram results, and multiple seizures in 1 day comprise independent predictors of medically intractable childhood epilepsy. We suggest that medical intractability in childhood epilepsy can be predicted by monitoring these factors. Along with early prediction, alternative therapies may be designed to provide patients better seizure control and quality of life. Copyright © 2013 Elsevier Inc. All rights reserved.

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

Total Marrow and Lymphoid Irradiation and Chemotherapy Before Donor Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Leukemia

ClinicalTrials.gov

2018-03-27

Adult Acute Lymphoblastic Leukemia in Complete Remission; Acute Myeloid Leukemia in Remission; Previously Treated Myelodysplastic Syndrome; Recurrent Adult Acute Lymphoblastic Leukemia; Recurrent Adult Acute Myeloid Leukemia; Recurrent Childhood Acute Lymphoblastic Leukemia; Recurrent Childhood Acute Myeloid Leukemia; Childhood Acute Lymphoblastic Leukemia in Complete Remission

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

PubMed Central

Rapin, Isabelle; Weidenheim, Karen; Lindenbaum, Yelena; Rosenbaum, Pearl; Merchant, Saumil N.; Krishna, Sindu; Dickson, Dennis W.

2009-01-01

Cockayne syndrome and xeroderma pigmentosum–Cockayne syndrome complex are rare autosomal recessive disorders with poorly understood biology. They are characterized by profound postnatal brain and somatic growth failure and by degeneration of multiple tissues resulting in cachexia, dementia, and premature aging. They result in premature death, usually in childhood, exceptionally in adults. This study compares the clinical course and pathology of a man with Cockayne syndrome group A who died at age 31½ years with 15 adequately documented other adults with Cockayne syndrome and 5 with xeroderma pigmentosum–Cockayne syndrome complex. Slowing of head and somatic growth was apparent before age 2 years, mental retardation and slowly progressive spasticity at 4 years, ataxia and hearing loss at 9 years, visual impairment at 14 years, typical Cockayne facies at 17 years, and cachexia and dementia in his twenties, with a retained outgoing personality. He experienced several transient right and left hemipareses and two episodes of status epilepticus following falls. Neuropathology disclosed profound microencephaly, bilateral old subdural hematomas, white-matter atrophy, tigroid leukodystrophy with string vessels, oligodendrocyte proliferation, bizarre reactive astrocytes, multifocal dystrophic calcification that was most marked in the basal ganglia, advanced atherosclerosis, mixed demyelinating and axonal neuropathy, and neurogenic muscular atrophy. Cellular degeneration of the organ of Corti, spiral and vestibular ganglia, and all chambers of the eye was severe. Rarely, and for unexplained reasons, in some patients with Cockayne syndrome the course is slower than usual, resulting in survival into adulthood. The profound dwarfing, failure of brain growth, cachexia, selectivity of tissue degeneration, and poor correlation between genotypes and phenotypes are not understood. Deficient repair of DNA can increase vulnerability to oxidative stress and play a role in the

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

PubMed

Cuskelly, Monica

2016-05-01

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 about the quality of current relationships and of their intention to provide care for their brother/sister with Down syndrome in the future. Only behavior problems in the child with Down syndrome predicted warmth of the current adult relationship. Although adult sibling relationships were reported to be warm, the quality of neither the current nor the past relationship was associated with the reported intention to provide care.