Farag, Tamer H.; Koplan, Jeffrey P.; Breiman, Robert F.; Madhi, Shabir A.; Heaton, Penny M.; Mundel, Trevor; Ordi, Jaume; Bassat, Quique; Menendez, Clara; Dowell, Scott F.
Abstract. Little is known about the specific causes of neonatal and under-five childhood death in high-mortality geographic regions due to a lack of primary data and dependence on inaccurate tools, such as verbal autopsy. To meet the ambitious new Sustainable Development Goal 3.2 to eliminate preventable child mortality in every country, better approaches are needed to precisely determine specific causes of death so that prevention and treatment interventions can be strengthened and focused. Minimally invasive tissue sampling (MITS) is a technique that uses needle-based postmortem sampling, followed by advanced histopathology and microbiology to definitely determine cause of death. The Bill & Melinda Gates Foundation is supporting a new surveillance system called the Child Health and Mortality Prevention Surveillance network, which will determine cause of death using MITS in combination with other information, and yield cause-specific population-based mortality rates, eventually in up to 12–15 sites in sub-Saharan Africa and south Asia. However, the Gates Foundation funding alone is not enough. We call on governments, other funders, and international stakeholders to expand the use of pathology-based cause of death determination to provide the information needed to end preventable childhood mortality. PMID:28719334
Farag, Tamer H; Koplan, Jeffrey P; Breiman, Robert F; Madhi, Shabir A; Heaton, Penny M; Mundel, Trevor; Ordi, Jaume; Bassat, Quique; Menendez, Clara; Dowell, Scott F
Little is known about the specific causes of neonatal and under-five childhood death in high-mortality geographic regions due to a lack of primary data and dependence on inaccurate tools, such as verbal autopsy. To meet the ambitious new Sustainable Development Goal 3.2 to eliminate preventable child mortality in every country, better approaches are needed to precisely determine specific causes of death so that prevention and treatment interventions can be strengthened and focused. Minimally invasive tissue sampling (MITS) is a technique that uses needle-based postmortem sampling, followed by advanced histopathology and microbiology to definitely determine cause of death. The Bill & Melinda Gates Foundation is supporting a new surveillance system called the Child Health and Mortality Prevention Surveillance network, which will determine cause of death using MITS in combination with other information, and yield cause-specific population-based mortality rates, eventually in up to 12-15 sites in sub-Saharan Africa and south Asia. However, the Gates Foundation funding alone is not enough. We call on governments, other funders, and international stakeholders to expand the use of pathology-based cause of death determination to provide the information needed to end preventable childhood mortality.
Barnett, Henry L.; And Others
There is a growing body of evidence that Sudden Infant Death Syndrome (SIDS) victims are not completely normal and healthy, as was once believed. A variety of new information from several disciplines strongly suggests that the infant who dies suddenly and unexpectedly may do so because of subtle developmental, neurologic, cardiorespiratory, and…
Secrest, A M; Becker, D J; Kelsey, S F; Laporte, R E; Orchard, T J
Type 1 diabetes mellitus increases the risk for sudden unexplained death, generating concern that diabetes processes and/or treatments underlie these deaths. Young (< 50 years) and otherwise healthy patients who are found dead in bed have been classified as experiencing 'dead-in-bed' syndrome. We thus identified all unwitnessed deaths in two related registries (the Children's Hospital of Pittsburgh and Allegheny County) yielding 1319 persons with childhood-onset (age < 18 years) Type 1 diabetes diagnosed between 1965 and 1979. Cause of death was determined by a Mortality Classification Committee (MCC) of at least two physician epidemiologists, based on the death certificate and additional records surrounding the death. Of the 329 participants who had died, the Mortality Classification Committee has so far reviewed and assigned a final cause of death to 255 (78%). Nineteen (8%) of these were sudden unexplained deaths (13 male) and seven met dead-in-bed criteria. The Mortality Classification Committee adjudicated cause of death in the seven dead-in-bed persons as: diabetic coma (n =4), unknown (n=2) and cardiomyopathy (n=1, found on autopsy). The three dead-in-bed individuals who participated in a clinical study had higher HbA(1c) , lower BMI and higher daily insulin dose compared with both those dying from other causes and those surviving. Sudden unexplained death in Type 1 diabetes seems to be increased 10-fold and associated with male sex, while dead-in-bed individuals have a high HbA(1c) and insulin dose and low BMI. Although sample size is too small for definitive conclusions, these results suggest specific sex and metabolic factors predispose to sudden unexplained death and dead-in-bed death. © 2011 The Authors. Diabetic Medicine © 2011 Diabetes UK.
Secrest, A. M.; Becker, D. J.; Kelsey, S. F.; LaPorte, R. E.; Orchard, T. J.
Aims Type 1 diabetes mellitus increases the risk for sudden unexplained death (SUD), generating concern that diabetes processes and/or treatments underlie these deaths. Young (<50 yrs) and otherwise healthy patients who are found dead in bed have been classified as experiencing “dead in bed” (DIB) syndrome. Methods We thus identified all un-witnessed deaths in two related registries (Children’s Hospital of Pittsburgh and Allegheny County) yielding 1,319 persons with childhood-onset (age<18 yrs) Type 1 DM diagnosed between 1965 and 1979. Cause of death was determined by a mortality classification committee (MCC) of at least 2 physician epidemiologists, based on the death certificate and additional records surrounding the death. Results Of the 329 participants who had died, the MCC has so far reviewed and assigned a final cause of death to 255 (78%). Nineteen (8%) of these were SUDs (13 male), and 7 met DIB criteria. The MCC adjudicated cause of death in the 7 DIB persons as: diabetic coma (n=4), unknown (n=2), and cardiomyopathy (n=1, found on autopsy). The 3 DIB individuals who participated in a clinical study had higher HbA1c, lower BMI, and higher daily insulin dose compared to both those dying from other causes and those surviving. Conclusions SUD in Type 1 DM seems to be increased 10-fold and associated with male sex, while DIB individuals have a high HbA1c and insulin dose, and low BMI. Though sample size is too small for definitive conclusions, these results suggest specific sex and metabolic factors predispose to SUD and DIB. PMID:21309837
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 ...
Kinney, Hannah C.; Willinger, Marian
In March 2015, the Eunice Kennedy Shriver National Institute of Child Health and Human Development held a workshop entitled “Sudden Unexpected Death in Fetal Life Through Early Childhood: New Opportunities.” Its objective was to advance efforts to understand and ultimately prevent sudden deaths in early life, by considering their pathogenesis as a potential continuum with some commonalities in biological origins or pathways. A second objective of this meeting was to highlight current issues surrounding the classification of sudden infant death syndrome (SIDS), and the implications of variations in the use of the term “SIDS” in forensic practice, and pediatric care and research. The proceedings reflected the most current knowledge and understanding of the origins and biology of vulnerability to sudden unexpected death, and its environmental triggers. Participants were encouraged to consider the application of new technologies and “omics” approaches to accelerate research. The major advances in delineating the intrinsic vulnerabilities to sudden death in early life have come from epidemiologic, neural, cardiac, metabolic, genetic, and physiologic research, with some commonalities among cases of unexplained stillbirth, SIDS, and sudden unexplained death in childhood observed. It was emphasized that investigations of sudden unexpected death are inconsistent, varying by jurisdiction, as are the education, certification practices, and experience of death certifiers. In addition, there is no practical consensus on the use of “SIDS” as a determination in cause of death. Major clinical, forensic, and scientific areas are identified for future research. PMID:27230764
Texas Child Care, 2000
Presents risk factors and prevention measures related to Sudden Infant Death Syndrome. Offers infant sleep recommendations and five discussion questions to test knowledge of Sudden Infant Death Syndrome. (DLH)
... this? Submit What's this? Submit Button Sudden Infant Death Syndrome (SIDS) Recommend on Facebook Tweet Share Compartir ... an international network of vaccine safety experts. SIDS deaths declined due to recommendations to put infants on ...
Reviews literature on reactions of parents and siblings to Sudden Infant Death Syndrome (SIDS). The prospects for prolonged, adverse reactions are considered, and professional concerns regarding abnormal adaptation are noted. (Author/DB)
Dunne, J W; Harper, C G; Hilton, J M
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.
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…
Friend, Karen B.; Goodwin, Matthew S.; Lipsitt, Lewis P.
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,…
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...
Lapidus, G D; Gregorio, D I; Hansen, H
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
Clark, James E; Davidson, Sean L; Maclachlan, Laura; Newton, Julia L; Watson, Stuart
Background: Previous studies have consistently shown increased rates of childhood adversity in chronic fatigue syndrome (CFS). However, such aetiopathogenic studies of CFS are potentially confounded by co-morbidity and misdiagnosis particularly with depression. Purpose: We examined the relationship between rates of childhood adversity using two complimentary approaches (1) a sample of CFS patients who had no lifetime history of depression and (2) a modelling approach. Methods: Childhood trauma questionnaire (CTQ) administered to a sample of 52 participants with chronic fatigue syndrome and 19 controls who did not meet criteria for a psychiatric disorder (confirmed using the Structured Clinical Interview for DSM-IV). Subsequently, Mediation Analysis (Baye's Rules) was used to establish the risk childhood adversity poses for CFS with and without depression. Results: In a cohort of CFS patients with depression comprehensively excluded, CTQ scores were markedly lower than in all previous studies and, in contrast to these previous studies, not increased compared with healthy controls. Post-hoc analysis showed that CTQ scores correlated with the number of depressive symptoms during the lifetime worst period of low mood. The probability of developing CFS given a history of childhood trauma is 4%, a two-fold increased risk compared to the general population. However, much of this risk is mediated by the concomitant development of major depression. Conclusions: The data suggests that previous studies showing a relationship between childhood adversity and CFS may be attributable to the confounding effects of co-morbid or misdiagnosed depressive disorder. Abbreviations: CFS: Chronic fatigue syndrome; CTQ: Childhood trauma questionnaire; MDD: Major depressive disorder; CA: Childhood adversity; P : Probability.
Williams, Jo; Scott, Fiona; Stott, Carol; Allison, Carrie; Bolton, Patrick; Baron-Cohen, Simon; Brayne, Carol
The Childhood Asperger Syndrome Test (CAST) is a parental questionnaire to screen for autism spectrum conditions. In this validation study, the CAST was distributed to 1925 children aged 5-11 in mainstream Cambridgeshire schools. A sample of participants received a full diagnostic assessment, conducted blind to screen status. The sensitivity of…
Ruiz, Cynthia; Gener, Blanca; Garaizar, Carmen; Prats, José M
Episodic spontaneous hypothermia is an infrequent disorder, with unknown pathogenic mechanisms. A systemic cause or underlying brain lesion has not been found for the disease. We report four new patients, 3-9 years old, with episodic hypothermia lower than 35 degrees C, marked facial pallor, and absent shivering. The episodes could last a few hours or four days, and recurred once a week or every 2-3 months. Two patients also demonstrated bradycardia, mild hypertension, and somnolence during the events; in one of them, profuse sweating was also a feature, and all four presented with either headache, a periodic childhood syndrome, or both (recurrent abdominal pain, cyclic vomiting, or vertigo). Three patients reported a family history of migraine. Neurologic examination, endocrine function, and imaging studies were normal. Migraine prophylactic therapy was of moderate efficacy. Spontaneous resolution was observed in one patient. The clinical characteristics of the syndrome allow for its inclusion as a childhood periodic syndrome related to migraine.
Mooney, D P; Shorter, N A
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.
Magotteaux, S; Bulk, S; Farhat, N; Sakalihasan, N; Defraigne, J-O; Seghaye, M-Ch
The Marfan syndrome is a systemic connective tissue disorder with autosomal dominant inheritance. A mutation of the fibrillin-1 gene, a glycoprotein which is the main constituent of the extracellular matrix, is the cause of the disease. The cardinal features involve the skeletal, ocular and cardiovascular systems. The expression of the Marfan syndrome varies from the severe neonatal presentation to the classical manifestations of the child and young adult, but also comprises isolated features. In children, phenotypical manifestations are age dependent. For these reasons, the diagnosis of Marfan syndrome might be lately revealed by its cardiovascular complications. We report the case of 2 siblings: it illustrates the phenotypic variability that might be observed in a same family, the phenotype evolution with age and the diagnosis challenge in childhood.
Bright, Fiona M; Vink, Robert; Byard, Roger W
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.
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.
Miodrag, Nancy; Silverberg, Sophie E.; Urbano, Richard C.; Hodapp, Robert M.
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…
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.
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
Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko
Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24%) and non-Lynch syndrome families (179/94,302; 0.19%; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95% CI 107-206) per million population per year in Lynch syndrome families and 115 (95% CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families.
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.
Ross, Colin A.
Irritable bowel syndrome is characterized by chronic gastrointestinal symptoms without a demonstrable physical cause. In a subgroup of patients, irritable bowel syndrome may be part of a cluster of psychosomatic symptoms related to childhood sexual abuse. To investigate this possibility, the Dissociative Disorders Interview Schedule (DDIS), the…
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.
Nachtkamp, Kathrin; Stark, Romina; Strupp, Corinna; Kündgen, Andrea; Giagounidis, Aristoteles; Aul, Carlo; Hildebrandt, Barbara; Haas, Rainer; Gattermann, Norbert; Germing, Ulrich
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.
D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George
The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.
Plaza, Anna; Torres, Anna; Ascaso, Carlos; Navarro, Purificación; Gelabert, Estel; Imaz, Maria Luisa; Martín-Santos, Rocío; Valdés, Manuel; García-Esteve, Lluïsa
This study aims to examine the prevalence and characteristics of physical, emotional and sexual childhood abuse. It also examines whether other non-abuse types of childhood adversities related to maladaptive family functioning and separations during childhood can be used as markers for the presence of childhood abuse. Participants (N = 237) were women at 2-3 days after delivery that completed the Spanish-validated version of the Early Trauma Inventory Self Report (ETI-SR; Bremner, Bolus, & Mayer, 2007; Plaza et al., 2011), designed to assess the presence of childhood adversities. Results show that 29% of the women had experienced some type of childhood abuse, and 10% more than one type. Logistic regression analyses indicate that childhood parental death is a risk marker for childhood emotional abuse (OR: 3.77; 95% CI: 1.327-10.755; p <.013), childhood parental substance abuse is a risk marker for childhood sexual (OR: 3.72; 95% CI: 1.480-9.303; p < .005) and physical abuse (OR: 2.610; 95% CI: 1.000-6.812; p < .05) and that childhood family mental illness is a risk marker for childhood emotional (OR: 2.95; 95% CI: 1.175-7.441; p < .021) and sexual abuse (OR: 2.55; 95% CI: 1.168-5.580; p < .019). The high prevalence of childhood abuse indicates a need for assessment during the perinatal period. Screening for childhood family mental illness, parental substance abuse, and parental death - all identified risk factors for reporting childhood abuse - can help to identify women that should be assessed specifically regarding abuse.
Chueh, Hee Won; Yoo, Jae Ho
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.
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...
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…
Hatton, F; Bouvier-Colle, M H; Barois, A; Imbert, M C; Leroyer, A; Bouvier, S; Jougla, E
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.
Ventura, Francesco; Rocca, Gabriele; Gentile, Raffaella; De Stefano, Francesco
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.
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
... Facebook Twitter Home Health Conditions SIDDT Sudden infant death with dysgenesis of the testes syndrome Printable PDF ... view the expand/collapse boxes. Description Sudden infant death with dysgenesis of the testes syndrome ( SIDDT ) is ...
Barrera, Maru; Alam, Rifat; D'Agostino, Norma Mammone; Nicholas, David B.; Schneiderman, Gerald
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,…
Bray, Melissa A.; Kehle, Thomas J.; Theodore, Lea A.; Broudy, Matthew S.
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)
Kinney, Hannah C.; Richerson, George B.; Dymecki, Susan M.; Darnall, Robert A.; Nattie, Eugene E.
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
Gibson, Todd M; Ehrhardt, Matthew J; Ness, Kirsten K
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.
Gelfand, Amy A
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.
Otterman, Gabriel; Lahne, Klara; Arkema, Elizabeth V; Lucas, Steven; Janson, Staffan; Hellström-Westas, Lena
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.
Krexi, Dimitra; Sheppard, Mary N
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.
Krexi, Dimitra; Sheppard, Mary N
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.
Sturner, W. Q.; Lynch, H. J.; Deng, M. H.; Gleason, R. E.; Wurtman, R. J.
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.
Cullu, Nesat; Karakas, Ekrem; Karakas, Omer; Deveer, Mehmet; Calik, Mustafa; Boyaci, Fatima Nurefsan
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.
Klingelhoefer, Lisa; Misbahuddin, Anjum; Jawad, Tania; Mellers, John; Jarosz, Jozef; Weeks, Robert; Ray Chaudhuri, Kallol
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.
Barrera, Maru; O'connor, Kathleen; D'Agostino, Norma Mammone; Spencer, Lynlee; Nicholas, David; Jovcevska, Vesna; Tallet, Susan; Schneiderman, Gerald
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:…
Van Niekerk, Chantal; Van Deventer, Barbara Ströh; du Toit-Prinsloo, Lorraine
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.
Cain, Nicole; Irving, Claire; Webber, Steven; Beerman, Lee; Arora, Gaurav
Wolff-Parkinson-White (WPW) syndrome carries a risk for symptomatic arrhythmias and sudden death. The aim of this study was to examine the natural history of patients with Wolff-Parkinson-White syndrome diagnosed in childhood followed longitudinally at a single institution. The study population consisted of 446 patients. The median age of diagnosis was 7 years, and 61% were male. Associated heart disease was present in 40 patients (9%). Modes of presentation included supraventricular tachycardia (38%), palpitations (22%), chest pain (5%), syncope (4%), atrial fibrillation (0.4%), sudden death (0.2%), and incidental findings (26%); data were unavailable in 4%. During the study period, a total of 243 patients (54%) had supraventricular tachycardia, and 7 patients (1.6%) had atrial fibrillation. Of patients who presented at ≤3 months of age, 35% had resolution of manifest preexcitation compared with 5.8% who presented at >3 months of age (p <0.0001). There were 6 sudden deaths (1.3%), with an incidence of 2.8 per 1,000 patient-years. Two of these patients had structurally normal hearts (incidence 1.1 per 1,000 patient-years). Four of these patients had associated heart disease (incidence 27 per 1,000 patient-years) (p <0.01). In conclusion, in a large population of patients with Wolff-Parkinson-White syndrome diagnosed in childhood, 64% had symptoms at presentation, and an additional 20% developed symptoms during follow-up. There were 6 sudden deaths (1.3%), with an overall incidence of 1.1 per 1,000 patient-years in patients with structurally normal hearts and 27 per 1,000 patient-years in patients with associated heart disease. Copyright © 2013 Elsevier Inc. All rights reserved.
Garralda, M. Elena; Chalder, Trudie
RBackground: Chronic fatigue syndrome (CFS) is being increasingly recognized in children and adolescents. Yet comparatively little attention has been given in the literature to management. Methods: Description of the main features of the disorder, precipitating and maintaining factors and diagnostic assessment. Outline of different views on the…
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.
Blanco, N; Gutiérrez, B; Valls, I; Puertas, D; Martín, C; Rivera, M; Hernández, Á; Torrelo, A
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.
Barrera, Maru; O'Connor, Kathleen; D'Agostino, Norma Mammone; Spencer, Lynlee; Nicholas, David; Jovcevska, Vesna; Tallet, Susan; Schneiderman, Gerald
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.
Slaughter, Virginia; Lyons, Michelle
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.…
Murphy, Patricia Ann
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…
Byard, Roger W; Riches, Karen J
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.
Hurd, Russell C.
"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.…
Tebeka, Sarah; Hoertel, Nicolas; Dubertret, Caroline; Le Strat, Yann
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.
Mage, David T
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.
Gupta, Nidhi; Shah, Priyali; Nayyar, Sugandha; Misra, Anoop
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').
Barrera, Maru; Alam, Rifat; D'Agostino, Norma Mammone; Nicholas, David B; Schneiderman, Gerald
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.
Li, Jiong; Vestergaard, Mogens; Cnattingius, Sven; Gissler, Mika; Bech, Bodil Hammer; Obel, Carsten; Olsen, Jørn
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
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.
Lee, Chioun; Tsenkova, Vera; Carr, Deborah
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.
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
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.
Rostila, Mikael; Berg, Lisa; Saarela, Jan; Kawachi, Ichiro; Hjern, Anders
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: email@example.com.
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
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.
Sturner, W. Q.; Lynch, H. J.; Deng, M. H.; Gleason, R. E.; Wurtman, R. J.
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.
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
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.
Borgia, R Ezequiel; Gerstein, Maya; Levy, Deborah M; Silverman, Earl D; Hiraki, Linda T
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.
Salim, Mubadda A.; Alpert, Bruce S.
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…
Friedmann, Isabel; Dahdouh, Elias M; Kugler, Perlyne; Mimran, Gracia; Balayla, Jacques
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.
Norton, Maria C; Hatch, Daniel J; Munger, Ronald G; Smith, Ken R
Biological and epidemiological evidence has linked early-life psychosocial stress with late-life health, with inflammation as a potential mechanism. We report here the association between familial death in childhood and adulthood and increased levels of high-sensitivity C-reactive protein (CRP), a marker of systemic inflammation. The Cache County Memory Study is a prospective study of persons initially aged 65 and older in 1995. In 2002, there were 1,955 persons in the study with data on CRP (42.3 percent male, mean [SD] age = 81.2 [5.8] years), linked with objective data on family member deaths. Using logistic regression, high (> 10 mg/L) versus low (≤ 10 mg/L) CRP was regressed on cumulative parental, sibling, spouse, and offspring deaths during childhood and during early adulthood, adjusted for family size in each period (percentage family depletion; PFD). Findings revealed PFD during childhood to be significantly associated with CRP (OR = 1.02, 95% CI [1.01, 1.04]). Individuals with two or more family deaths were 79 percent more likely to have elevated CRP than those with zero family deaths (OR = 1.79, 95% CI [1.07, 2.99]). Early adulthood PFD was not related to CRP. This study demonstrates a link between significant psychosocial stress in early life and immune-inflammatory functioning in late life, and suggests a mechanism explaining the link between early-life adversity and late-life health.
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
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.
Byington, Teresa; Martin, Sally; Reilly, Jackie; Weigel, Dan
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…
Yilmaz, Riza; Yilmaz, Eyyüp; Ozdemir, Veli; Can, Muhammet; Pakis, Isil; Piskin, Ibrahim E; Dokgoz, Halis; Ozer, Erdal; Numanoglu, Kemal V
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.
Urquhart, Donald S; Thia, Lena P; Francis, Jackie; Prasad, S Ammani; Dawson, Charlie; Wallis, Colin; Balfour-Lynn, Ian M
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.
Baqui, A H; Black, R E; Arifeen, S E; Hill, K; Mitra, S N; al Sabir, A
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.
Mack, K Y
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.
Krishna, C V; Parmar, N V; Has, C
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.
Hurd, Russell C
"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.
Barratt, T M; Cameron, J S; Chantler, C; Counahan, R; Ogg, C S; Soothill, J F
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.
Mubarak, Muhammed; Lanewala, Ali; Kazi, Javed Iqbal; Akhter, Fazal; Sher, Atika; Fayyaz, Amir; Bhatti, Sajid
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 (
Webb, Roger T; Pickles, Andrew R; Appleby, Louis; Mortensen, Preben B; Abel, Kathryn M
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.
Trepka, Mary Jo; Maddox, Lorene M.; Lieb, Spencer; Niyonsenga, Theophile
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
Trepka, Mary Jo; Maddox, Lorene M; Lieb, Spencer; Niyonsenga, Theophile
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.
Green, Adam L; Furutani, Elissa; Ribeiro, Karina Braga; Rodriguez Galindo, Carlos
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.
Weeks, Robert J.; Ludgate, Jackie L.; LeMée, Gwenn; Morison, Ian M.
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
Tester, David J; Wong, Leonie C H; Chanana, Pritha; Jaye, Amie; Evans, Jared M; FitzPatrick, David R; Evans, Margaret J; Fleming, Peter; Jeffrey, Iona; Cohen, Marta C; Tfelt-Hansen, Jacob; Simpson, Michael A; Behr, Elijah R; Ackerman, Michael J
Sudden infant death syndrome (SIDS) is a leading cause of postneonatal mortality. Genetic heart diseases (GHDs) underlie some cases of SIDS. This study aimed to determine the spectrum and prevalence of GHD-associated mutations as a potential monogenic basis for SIDS. A cohort of 419 unrelated SIDS cases (257 male; average age 2.7 ± 1.9 months) underwent whole exome sequencing and a targeted analysis of 90 GHD-susceptibility genes. The yield of "potentially informative," ultra-rare variants (minor allele frequency <0.00005) in GHD-associated genes was assessed. Overall, 53 of 419 (12.6%) SIDS cases had ≥1 "potentially informative," GHD-associated variant. The yield was 14.9% (21 of 141) for mixed-European ancestry cases and 11.5% (32 of 278) for European ancestry SIDS cases. Infants older than 4 months were more likely to host a "potentially informative" GHD-associated variant. There was significant overrepresentation of ultra-rare nonsynonymous variants in European SIDS cases (18 of 278 [6.5%]) versus European control subjects (30 of 973 [3.1%]; p = 0.013) when combining all 4 major cardiac channelopathy genes (KCNQ1, KCNH2, SCN5A, and RYR2). According to the American College of Medical Genetics guidelines, only 18 of 419 (4.3%) SIDS cases hosted a "pathogenic" or "likely pathogenic" variant. Less than 15% of more than 400 SIDS cases had a "potentially informative" variant in a GHD-susceptibility gene, predominantly in the 4- to 12-month age group. Only 4.3% of cases possessed immediately clinically actionable variants. Consistent with previous studies, ultra-rare, nonsynonymous variants within the major cardiac channelopathy-associated genes were overrepresented in SIDS cases in infants of European ethnicity. These findings have major implications for the investigation of SIDS cases and families. Copyright © 2018 American College of Cardiology Foundation. All rights reserved.
Weng, Hsu-Huei; Tsai, Shang-Shyue; Wu, Trong-Neng; Sung, Fung-Chang; Yang, Chun-Yuh
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.
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
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
Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James
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.
Van Deventer, B S; Rossouw, S H; Du Toit-Prinsloo, L
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.
Ventura, F; Portunato, F; Celesti, R
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.
Butler, Merlin G.; Manzardo, Ann M.; Heinemann, Janalee; Loker, Carolyn; Loker, James
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
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
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: • 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
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
Hayashizaki, Yoshie; Usui, Kiyotaka; Moriya, Takuya; Hashiyada, Masaki; Usui, Akihito; Hosokai, Yoshiyuki; Kawasumi, Yusuke; Saito, Haruo; Funayama, Masato
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.
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.
Sáez-Francàs, Naia; Calvo, Natalia; Alegre, José; Castro-Marrero, Jesús; Ramírez, Nicolás; Hernández-Vara, Jorge; Casas, Miguel
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.
Ferguson, Angus H.
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
Kelmanson, Igor A.
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…
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 ...
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...
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...
Kelmanson, Igor A.
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…
Butler, Jill V.; Whittington, Joyce E.; Holland, Anthony J.; McAllister, Catherine J.; Goldstone, Anthony P
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…
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...
Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H.
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…
Allison, Carrie; Williams, Jo; Scott, Fiona; Stott, Carol; Bolton, Patrick; Baron-Cohen, Simon; Brayne, Carol
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…
Young, Walter C.; And Others
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…
San Sebastian, Miguel; Ivarsson, Anneli; Weinehall, Lars; Gustafsson, Per E.
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
Buhring, M.; Spies, H. F.
Sympathetic activity under cold stress is investigated. Predominantly vagal cardio-depressive reflexes are discussed besides currently known mechanisms of sudden death after water immersion. Pronounced circulatory centralization in diving animals as well as following exposure in cold water indicates additional sympathetic activity. In cold water baths of 15 C, measurements indicate an increase in plasma catecholamine levels by more than 300 percent. This may lead to cardiac arrhythmias by the following mechanisms: cold water essentially induces sinus bradycardia; brady-and tachycardiarrhythmias may supervene as secondary complications; sinusbradycardia may be enhanced by sympathetic hypertonus. Furthermore, ectopic dysrhythmias are liable to be induced by the strictly sympathetic innervation of the ventricle. Myocardial ischemia following a rise in peripheral blood pressure constitutes another arrhythmogenic factor. Some of these reactions are enhanced by alcohol intoxication.
Hossain, Mosharaf; Mani, Kulanthayan K C; Sidik, Sherina Mohd; Hayati, K S; Rahman, A K M Fazlur
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
Benito Bartolomé, F; Sánchez Fernández-Bernal, C
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.
Wilkinson, Lee A.
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…
Albahri, Ziad; Minxová, Lenka; Lukeš, Antonín; Mawiri, Abdul Al; Štefáčková, Šárka
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.
Doiron, R Christopher; Kogan, Barry A; Tolls, Victoria; Irvine-Bird, Karen; Nickel, J Curtis
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.
De Venter, Maud; Illegems, Jela; Van Royen, Rita; Moorkens, Greta; Sabbe, Bernard G C; Van Den Eede, Filip
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.
White, James H.; Rust, John B.
The article presents a case history of a child displaying symptoms of schizophrenia, seizures, and retardation without neurological abnormalities, which were eventually diagnosed as being due to Davidoff-Dyke-Masson syndrome, a condition involving gross anatomical brain pathology. (DLS)
da Rosa Elkhoury, Mauro; da Silva Mendes, Wellington; Waldman, Eliseu Alves; Dias, Juarez Pereira; Carmo, Eduardo Hage; Fernando da Costa Vasconcelos, Pedro
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.
Jokela, Markus; Ferrie, Jane; Kivimaki, Mika
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…
Brayner, Manuella Coutinho; Alves, Sandra Valongueiro
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.
Novella, John; DeBiasi, Ralph M; Coplan, Neil L; Suri, Ranji; Keller, Seth
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.
Tu, Emily; Twigg, Stephen M; Semsarian, Christopher
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.
Márquez, Manlio F; Cruz-Robles, David; Ines-Real, Selene; Vargas-Alarcón, Gilberto; Cárdenas, Manuel
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.
Buzi, F; Mella, P; Pilotta, A; Felappi, B; Camerino, G; Notarangelo, L D
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
Gunn, Pat; Cuskelly, Monica
Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…
Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim
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
Koul, Roshan; Al-Futaisi, Amna; Chacko, Alexander; Fazalullah, Mohammed; Nabhani, Susan Al; Al-Awaidy, Salah; Al-Busaidy, Suleiman; Al-Mahrooqi, Salim
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.
Irritable bowel syndrome (IBS) affects a large number of children throughout the world. The symptom expression of IBS is heterogeneous, and several factors which may be interrelated within the IBS biopsychosocial model play a role. These factors include visceral hyperalgesia, intestinal permeability...
Brigden, Amberly; Loades, Maria; Abbott, Anna; Bond-Kendall, Joanne; Crawley, Esther
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.
Faienza, Maria Felicia; Wang, David Q H; Frühbeck, Gema; Garruti, Gabriella; Portincasa, Piero
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.
Hamsho, N.; Antshel, K. M.; Eckert, T. L.; Kates, W. R.
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…
Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette
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…
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
Moreira, Pedro Costa; Santos, Agostinho
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.
Calvin, Catherine M; Batty, G David; Der, Geoff; Brett, Caroline E; Taylor, Adele; Pattie, Alison; Čukić, Iva; Deary, Ian J
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
Batty, G David; Der, Geoff; Brett, Caroline E; Taylor, Adele; Pattie, Alison; Čukić, Iva
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
Agirbasli, Mehmet; Tanrikulu, Azra M; Berenson, Gerald S
Childhood and adolescence are particularly vulnerable periods of life to the effects of cardiometabolic risk and later development of atherosclerosis, hypertension, and diabetes mellitus. Developing countries with limited resources suffer most heavily from the consequences of cardiometabolic risk in children and its future implications to the global health burden. A better understanding of mechanisms leading to cardiometabolic risk in early life may lead to more effective prevention and intervention strategies to reduce metabolic stress in children and later disease. Longitudinal "tracking" studies of cardiometabolic risk in children provide a tremendous global resource to direct prevention strategies for cardiovascular disease. In this review, we will summarize the pathophysiology, existing definitions for cardiometabolic risk components in children. Screening and identifying children and adolescents of high cardiometabolic risk and encouraging them and their families through healthy lifestyle changes should be implemented to as a global public health strategy. © 2015 John Wiley & Sons Ltd.
Gollenberg, Audra; Fendley, Kim
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…
Kłys, Małgorzata; Kowalski, Piotr; Rojek, Sebastian; Gross, Adam
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.
Giudici, Valentina; Spanaki, Adriani; Hendry, Jennifer; Mead-Regan, Sarah; Field, Ella; Zuccotti, Gian Vincenzo; Abrams, Dominic; Lowe, Martin; Kaski, Juan Pablo
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.
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.
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
Barnard, Dorothy R; Alonzo, Todd A; Gerbing, Robert B; Lange, Beverly; Woods, William G
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.
Kumar, Jitendra; Gulati, Sanjeev; Sharma, Ajay Prakash; Sharma, Raj Kumar; Gupta, Ramesh Kumar
Nephrotic syndrome in children is a clinical manifestation of different histopathological subtypes. There is a paucity of recent large studies dealing with the histopathological spectrum from developing countries. A prospective study was performed from January 1990 to December 2000 at our center, involving 600 children (with age of onset up to 16 years) with idiopathic nephrotic syndrome (INS). The objectives were: (1) to study the histopathological distribution of different subtypes of INS and (2) to compare the clinical and biochemical parameters at the time of diagnosis of minimal change disease (MCD) with non-MCD subtypes. For the purpose of this study we analyzed only those children with INS who underwent biopsies. The study group included 290 children in which adequate biopsy reports were available. There were 213 males and 77 females. Mean age at onset of INS was 7.9+5.1 years. Facial edema was found in 286 (98.6%), microhematuria in 120 (41.3%), gross hematuria in 7 (2.5%), and hypertension in 77(26.8%) patients. All patients of the study group were seronegative for HBsAg and HIV. Focal and segmental glomerulosclerosis (FSGS) was the most common histopathological subtype, occurring in 110 of 290 children (38%). Other subtypes included MCD in 95 children (32%), membranoproliferative glomerulonephritis (MPGN) in 44 children (15%), mesangioproliferative glomerulonephritis in 33 children (11%), membranous glomerulonephritis in 5 children (2%), and diffuse mesangial sclerosis in 3 children (1%). In children under 8 years of age, MCD was the most common entity, whereas FSGS predominated in children with age at onset greater than 8 years. The age at onset of nephrotic syndrome was significantly higher in the non-MCD group than the MCD group. The incidence of hypertension, microhematuria, and gross hematuria was significantly lower in the MCD group. MCD remains the most common histopathological subtype in Indian children with INS and onset under 8 years of age. The
Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha
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.
Igel, Catherine; Garretto, Diana; Robbins, Matthew S; Swerdlow, Michael; Judge, Nancy; Dayal, Ashlesha
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
Jonson-Reid, Melissa; Drake, Brett; Kohl, Patricia L
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.
Shanbag, Preeti; Amirtharaj, Cynthia; Pathak, Ashish
This is a retrospective analysis of 25 children with severe Guillain-Barre syndrome admitted to our PICU. All children were treated with intravenous immunoglobulins (IVIG) in a dose of 2 g/kg body weight over 2-5 days in addition to supportive and respiratory care. Seventeen children were elective admissions to the PICU whereas 8 children were transferred from other hospitals in a critical condition. Five of 8 of the late referrals died as compared to none of the elective admissions. All 8 of the late referrals required mechanical ventilation as against 3 of the 17 elective admissions. Mean duration of PICU stay in the late referrals was 27 days as compared to 15 days in the elective admissions. The authors concur with previously published reports, that early use of IVIG could reduce the mortality and the need for intubation and mechanical ventilation.
Pervanidou, Panagiota; Chrousos, George P
Chronic distress contributes to the development of obesity and comorbid states. Stress is the disturbance of the complex dynamic equilibrium that all organisms must maintain, and is associated with activation of the Stress system comprising of the hypothalamic-pituitary-adrenal axis and the arousal/sympathetic nervous systems. The stress system functions in a baseline circadian fashion and interacts with other systems of the organism to regulate a variety of behavioral, endocrine, metabolic, immune and cardiovascular functions. The experience of perceived or real uncontrollable intense and/or chronic stress (distress) may lead to several psychopathologic conditions, including anxiety, depressive and psychosomatic disorders, substance abuse, obesity and the metabolic syndrome, and osteoporosis, as well as impaired reproductive and immune functions. Developing children and adolescents are particularly vulnerable to the effects of chronic stress. Both behavioral and biological pathways are involved in the connection between chronic stress and obesity in adults and children. Emotional "comfort" eating, lack of sleep, impulsive behaviours and selection of specific foods often characterize stressed individuals. In addition to specific behaviours, dysregulation of the stress system through increased secretion of cortisol and catecholamines, especially in the evening hours, and in concert with concurrently elevated insulin concentrations, leads to development of central obesity, insulin resistance and the metabolic syndrome. In children, chronic alterations in cortisol secretion may have additional effects on cognitive and emotional development, timing of puberty and final stature. Obese children and adolescents are frequently entangled in a vicious cycle between distress, impairing self-image and distorted self-image, maintaining and worsening distress.
Pearce, M S; Deary, I J; Young, A H; Parker, L
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.
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
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.
Ramond, Francis; Duband, Sébastien; Croisille, Pierre; Cavé, Hélène; Teyssier, Georges; Adouard, Véronique; Touraine, Renaud
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.
Gunnes, Maria W; Lie, Rolv T; Bjørge, Tone; Ghaderi, Sara; Syse, Astri; Ruud, Ellen; Wesenberg, Finn; Moster, Dag
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.
GUNGOR, Serdal; KILIC, Betul; TABEL, Yilmaz; SELIMOGLU, Ayse; OZGEN, Unsal; YILMAZ, Sezai
Objective Posterior reversible encephalopathy syndrome (PRES) is characterized by typical radiologic findings in the posterior regions of the cerebral hemispheres and cerebellum. The symptoms include headache, nausea, vomiting, visual disturbances, focal neurologic deficits, and seizures. The aim of this study is to evaluate the clinical and radiological features of PRES in children and to emphasize the recognition of atypical features. Materials & Methods We retrospectively examined 23 children with PRES from Mar 2010-Apr 2015 in Inonu University Turgut Ozal Medical Center in Turkey. We compared the clinical features and cranial MRI findings between underlying diseases of PRES. Results The most common precipitating factors were hypertension (78.2%) and medications, namely immunosuppressive and antineoplastic agents (60.8%). Manifestations included mental changes (100%), seizures (95.6%), headache (60.8%), and visual disturbances (21.7%) of mean 3.6 (range 1-10) days' duration. Cranial magnetic resonance imaging (MRI) showed bilateral occipital lesions in all patients, associated in 82.6% with less typical distribution of lesions in frontal, temporal or parietal lobes, cerebellum, corpus callosum, basal ganglia, thalamus, and brain stem. Frontal involvement was predominant, observed in 56.5% of patients. Clinical recovery was followed by radiologic resolution in all patients. Conclusion PRES is often unsuspected by the clinician, thus radiologists may be the first to suggest this diagnosis on an MRI obtained for seizures or encephalopathy. Atypical MRI finding is seen quite often. Rapid diagnosis and treatment are required to avoid a devastating outcome. PMID:29379559
Low Kapalu, C M; Gartstein, M A
Fragile X syndrome (FXS) is an x-linked genetic disorder that represents the most common hereditary cause of Intellectual Disability (ID). Very specific behavioural features (e.g. attention deficit hyperactivity disorder and stereotyped behaviour) are associated with FXS in adolescents and adults, yet research on temperament and behavioural characteristics in young children with FXS has been more limited and less conclusive. This study investigated temperament differences in young boys (3-7 years old) with FXS (N = 26) recruited from a national FXS centre and controls (N = 26) matched on age, gender and race. Compared with controls, boys with FXS exhibited less overall surgency/extraversion and effortful control. Boys with FXS also displayed significantly greater activity and shyness and less attentional focusing, inhibitory control, soothability and high intensity pleasure (tendency to enjoy intense/complex activities), relative to comparison children. A significant interaction between age and diagnosis (FXS or control) was observed for negative affectivity only. Attention difficulties commonly found in adolescents and adults with FXS appear to also be characteristic of young boys with FXS, as reflected by lower effortful control. Age-related findings concerning negative affectivity may be particularly significant, leading to improved intervention/preventative efforts. © 2016 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
Generalized edema is a major presenting clinical feature of children with nephrotic syndrome (NS) exemplified by such primary conditions as minimal change disease (MCD). In these children with classical NS and marked proteinuria and hypoalbuminemia, the ensuing tendency to hypovolemia triggers compensatory physiological mechanisms, which enhance renal sodium (Na+) and water retention; this is known as the “underfill hypothesis.” Edema can also occur in secondary forms of NS and several other glomerulonephritides, in which the degree of proteinuria and hypoalbuminemia, are variable. In contrast to MCD, in these latter conditions, the predominant mechanism of edema formation is “primary” or “pathophysiological,” Na+ and water retention; this is known as the “overfill hypothesis.” A major clinical challenge in children with these disorders is to distinguish the predominant mechanism of edema formation, identify other potential contributing factors, and prevent the deleterious effects of diuretic regimens in those with unsuspected reduced effective circulatory volume (i.e., underfill). This article reviews the Starling forces that become altered in NS so as to tip the balance of fluid movement in favor of edema formation. An understanding of these pathomechanisms then serves to formulate a more rational approach to prevention, evaluation, and management of such edema. PMID:26793696
Shah, Ashok; Gera, Kamal; Panjabi, Chandramani
Allergic bronchopulmonary aspergillosis (ABPA) is infrequently documented in children with asthma. Although collapse is not uncommon, middle lobe syndrome (MLS) as a presentation of ABPA is rather a rarity. A 9-year-old female child with asthma presented with increase in intensity of symptoms along with a right midzone patchy consolidation on a chest radiograph. In addition, an ill-defined opacity abutting the right cardiac border with loss of cardiac silhouette was noted. A right lateral view confirmed a MLS, which was further corroborated by high resolution computed tomography. Central bronchiectasis was also observed, which prompted a work-up for ABPA. The child met 7/8 major diagnostic criteria for ABPA. She was then initiated on oral prednisolone that resulted in a marked clinical improvement within a fortnight. Radiological clearance occurred at 3 months with inflation of the middle lobe. ABPA presenting with MLS in a child is yet to be reported. A high index of suspicion is required to establish the diagnosis of ABPA in a child presenting with MLS. This would obviate the invasive investigations usually done to ascertain the cause of MLS.
Lee, Jin Sook; Kim, Hunmin; Lim, Byung Chan; Hwang, Hee; Choi, Jieun; Kim, Ki Joong; Hwang, Yong Seung; Chae, Jong Hee
Few studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and genetic features of patients with LS, and identify prognostic indicators of the disease progression and neurological outcome. Thirty-nine patients who had been diagnosed with LS at the Seoul National University Children's Hospital were included. Their medical records, neuroimaging findings, and histological/biochemical findings of skeletal muscle specimens were reviewed. Targeted sequencing of mitochondrial DNA was performed based on mitochondrial respiratory chain (MRC) enzyme defects. Isolated complex I deficiency was the most frequently observed MRC defect (in 42% of 38 investigated patients). Mitochondrial DNA mutations were identified in 11 patients, of which 81.8% were MT-ND genes. The clinical outcome varied widely, from independent daily activity to severe disability. Poor functional outcomes and neurological deterioration were significantly associated with early onset (before an age of 1 year) and the presence of other lesions additional to basal ganglia involvement in the initial neuroimaging. The neurological severity and outcome of LS may vary widely and be better than those predicted based on previous studies. We suggest that age at onset and initial neuroimaging findings are prognostic indicators in LS.
Generalized edema is a major presenting clinical feature of children with nephrotic syndrome (NS) exemplified by such primary conditions as minimal change disease (MCD). In these children with classical NS and marked proteinuria and hypoalbuminemia, the ensuing tendency to hypovolemia triggers compensatory physiological mechanisms, which enhance renal sodium (Na(+)) and water retention; this is known as the "underfill hypothesis." Edema can also occur in secondary forms of NS and several other glomerulonephritides, in which the degree of proteinuria and hypoalbuminemia, are variable. In contrast to MCD, in these latter conditions, the predominant mechanism of edema formation is "primary" or "pathophysiological," Na(+) and water retention; this is known as the "overfill hypothesis." A major clinical challenge in children with these disorders is to distinguish the predominant mechanism of edema formation, identify other potential contributing factors, and prevent the deleterious effects of diuretic regimens in those with unsuspected reduced effective circulatory volume (i.e., underfill). This article reviews the Starling forces that become altered in NS so as to tip the balance of fluid movement in favor of edema formation. An understanding of these pathomechanisms then serves to formulate a more rational approach to prevention, evaluation, and management of such edema.
Haig, David; Wharton, Robert
The kinship theory of genomic imprinting predicts that imprinted genes have effects on asymmetric kin (relatives with different degrees of matrilineal and patrilineal relatedness). The most important interaction with such a relative is a child's interaction with its mother. Therefore, the study of imprinted genes and their phenotypic effects promises to provide insights into the evolution of mother-child relations. Prader-Willi syndrome (PWS) is caused by the absence of expression of genes at 15q11-q13 that are normally expressed only when paternally derived. The kinship theory predicts that children with PWS will fail to express behaviors that have increased mothers' costs of child-rearing. Our analysis focuses on aspects of the PWS phenotype that affect appetite and feeding. Immediately after birth, children with PWS have little appetite and are usually unable to suckle, but at some stage (usually within the first 2 years) they develop a voracious appetite and an obsession with food. We conjecture that this change in appetite reflects evolutionary forces associated with weaning. Immediately after birth, when a child is completely dependent on the breast, poor appetite reduced maternal costs. However, once a child was able to consume supplemental foods, maternal costs would have been reduced by children with increased, nonfastidious appetites. Copyright 2003 Wiley-Liss, Inc.
Smith, Phillip N; Gamble, Stephanie A; Cort, Natalie A; Ward, Erin A; Conwell, Yeates; Talbot, Nancy L
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.
Shah, Minesh P; Tate, Jacqueline E; Mwenda, Jason M; Steele, A Duncan; Parashar, Umesh D
Rotavirus is the leading cause of hospitalizations and deaths from diarrhea. 33 African countries had introduced rotavirus vaccines by 2016. We estimate reductions in rotavirus hospitalizations and deaths for countries using rotavirus vaccination in national immunization programs and the potential of vaccine introduction across the continent. Areas covered: Regional rotavirus burden data were reviewed to calculate hospitalization rates, and applied to under-5 population to estimate baseline hospitalizations. Rotavirus mortality was based on 2013 WHO estimates. Regional pre-licensure vaccine efficacy and post-introduction vaccine effectiveness studies were used to estimate summary effectiveness, and vaccine coverage was applied to calculate prevented hospitalizations and deaths. Uncertainties around input parameters were propagated using boot-strapping simulations. In 29 African countries that introduced rotavirus vaccination prior to end 2014, 134,714 (IQR 112,321-154,654) hospitalizations and 20,986 (IQR 18,924-22,822) deaths were prevented in 2016. If all African countries had introduced rotavirus vaccines at benchmark immunization coverage, 273,619 (47%) (IQR 227,260-318,102) hospitalizations and 47,741 (39%) (IQR 42,822-52,462) deaths would have been prevented. Expert commentary: Rotavirus vaccination has substantially reduced hospitalizations and deaths in Africa; further reductions are anticipated as additional countries implement vaccination. These estimates bolster wider introduction and continued support of rotavirus vaccination programs.
Rice, A. L.; Sacco, L.; Hyder, A.; Black, R. E.
INTRODUCTION: Recent estimates suggest that malnutrition (measured as poor anthropometric status) is associated with about 50% of all deaths among children. Although the association between malnutrition and all-cause mortality is well documented, the malnutrition-related risk of death associated with specific diseases is less well described. We reviewed published literature to examine the evidence for a relation between malnutrition and child mortality from diarrhoea, acute respiratory illness, malaria and measles, conditions that account for over 50% of deaths in children worldwide. METHODS: MEDLINE was searched for suitable review articles and original reports of community-based and hospital-based studies. Findings from cohort studies and case-control studies were reviewed and summarized. RESULTS: The strongest and most consistent relation between malnutrition and an increased risk of death was observed for diarrhoea and acute respiratory infection. The evidence, although limited, also suggests a potentially increased risk for death from malaria. A less consistent association was observed between nutritional status and death from measles. Although some hospital-based studies and case-control studies reported an increased risk of mortality from measles, few community-based studies reported any association. DISCUSSION: The risk of malnutrition-related mortality seems to vary for different diseases. These findings have important implications for the evaluation of nutritional intervention programmes and child survival programmes being implemented in settings with different disease profiles. PMID:11100616
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.
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
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.
Anagnostou, Katherine; Harrison, Brian; Iles, Richard; Nasser, Shuaib
Confidential enquiries into asthma deaths can identify inadequacies in medical management and factors which contribute to patients' death. To identify risk factors for paediatric asthma deaths over a 6-year period. Observational case-series study of paediatric asthma deaths between 2001-2006 in the UK Eastern Region. Hospital, primary care and post-mortem data were obtained for every child (≤17 yrs) with asthma recorded on the death certificate, and a detailed questionnaire was completed. Information was obtained on asthma severity, medications, hospital admissions, GP and hospital follow-up, adherence, psychosocial / behavioural factors, allergies, details of the terminal attack and precipitating factors. 20 children (10 male; 8-17 yrs; median: 11.5 yrs) died of asthma between 2001-2006. 9/20 had mild to moderate asthma (BTS/ SIGN criteria), 10/20 had severe asthma and 1 child was not known to have asthma. 13/20 were clinically atopic. Only 3 had undergone allergy assessment. 10/20 died between June and August. 12/20 children had adverse psychosocial and behavioural factors. 7/20 children were on non-combination long-acting β2-agonist (LABA) treatment without inhaled corticosteroids (ICS). Almost half the deaths occurred in children with mild/moderate asthma. We recommend that allergic factors and seasonal allergy should be identified early, non-combination LABAs avoided, and speculate that overuse of short-acting β2-agonists (SABAs) may indicate non-adherence with ICS. Asthma deaths in children can be avoided if risk factors are identified early.
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
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.
Banh, Tonny H M; Hussain-Shamsy, Neesha; Patel, Viral; Vasilevska-Ristovska, Jovanka; Borges, Karlota; Sibbald, Cathryn; Lipszyc, Deborah; Brooke, Josefina; Geary, Denis; Langlois, Valerie; Reddon, Michele; Pearl, Rachel; Levin, Leo; Piekut, Monica; Licht, Christoph P B; Radhakrishnan, Seetha; Aitken-Menezes, Kimberly; Harvey, Elizabeth; Hebert, Diane; Piscione, Tino D; Parekh, Rulan S
Ethnic differences in outcomes among children with nephrotic syndrome are unknown. We conducted a longitudinal study at a single regional pediatric center comparing ethnic differences in incidence from 2001 to 2011 census data and longitudinal outcomes, including relapse rates, time to first relapse, frequently relapsing disease, and use of cyclophosphamide. Among 711 children, 24% were European, 33% were South Asian, 10% were East/Southeast Asian, and 33% were of other origins. Over 10 years, the overall incidence increased from 1.99/100,000 to 4.71/100,000 among children ages 1-18 years old. In 2011, South Asians had a higher incidence rate ratio of 6.61 (95% confidence interval, 3.16 to 15.1) compared with Europeans. East/Southeast Asians had a similar incidence rate ratio (0.76; 95% confidence interval, 0.13 to 2.94) to Europeans. We determined outcomes in 455 children from the three largest ethnic groups with steroid-sensitive disease over a median of 4 years. South Asian and East/Southeast Asian children had significantly lower odds of frequently relapsing disease at 12 months (South Asian: adjusted odds ratio; 0.55; 95% confidence interval, 0.39 to 0.77; East/Southeast Asian: adjusted odds ratio; 0.42; 95% confidence interval, 0.34 to 0.51), fewer subsequent relapses (South Asian: adjusted odds ratio; 0.64; 95% confidence interval, 0.50 to 0.81; East/Southeast Asian: adjusted odds ratio; 0.47; 95% confidence interval, 0.24 to 0.91), lower risk of a first relapse (South Asian: adjusted hazard ratio, 0.74; 95% confidence interval, 0.67 to 0.83; East/Southeast Asian: adjusted hazard ratio, 0.65; 95% CI, 0.63 to 0.68), and lower use of cyclophosphamide (South Asian: adjusted hazard ratio, 0.82; 95% confidence interval, 0.53 to 1.28; East/Southeast Asian: adjusted hazard ratio, 0.54; 95% confidence interval, 0.41 to 0.71) compared with European children. Despite the higher incidence among South Asians, South and East/Southeast Asian children have significantly
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.
Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho
Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death.
Guimarães, Susana; Lopes, José Manuel; Oliveira, José Bessa; Santos, Agostinho
Unexpected child death investigation is a difficult area of forensic practice in view of the wide range of possible genetic, congenital, and acquired natural and nonnatural causes. Idiopathic infantile arterial calcification (IIAC) is a rare autosomic recessive disease usually diagnosed postmortem. Inactivating mutations of the ENPP1 gene were described in 80% of the cases with IIAC. We report a case of a 5-year-old girl submitted to a forensic autopsy due to sudden death and possible medical negligence/parents child abuse. Major alterations found (intimal proliferation and deposition of calcium hydroxyapatite around the internal elastic lamina and media of arteries; acute myocardial infarct, stenotic and calcified coronary artery; perivascular and interstitial myocardial fibrosis; and subendocardial fibroelastosis) were diagnostic of IIAC. We reviewed IIAC cases published in the English literature and highlight the importance of adequate autopsy evaluation in cases of sudden child death. PMID:21151691
Doberentz, Elke; Führing, Sarah; Madea, Burkhard
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.
Varga, Ivan; Bódi, Ildikó; Mešťanová, Veronika; Kováč, Martin; Klein, Martin
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.
Kawase, Koya; Azuma, Eiichi; Ohshita, Hironori; Tanaka, Tatsushi; Hanada, Yu; Sasaki, Tomoaki; Sugimoto, Mari; Togawa, Takao; Kouwaki, Masanori; Ito, Tsuyoshi; Hirayama, Masahiro; Koyama, Norihisa
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.
Russell-Eggitt, I M
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%).
White, Helene Raskin; Widom, Cathy Spatz
This study compared mortality data and causes of death in a sample of 908 abused and/or neglected individuals and 667 matched controls followed for 25 years into young adulthood. The study found no significant differences in rates of mortality for the two groups and victims of child abuse and neglect were not more likely to experience a violent…
Smith, Phillip N.; Gamble, Stephanie A.; Cort, Natalie A.; Ward, Erin A.; Conwell, Yeates; Talbot, Nancy L.
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
Marques, Victor L S; Guariento, Andressa; Simões, Marlise S M; Blay, Gabriela; Lotito, Ana Paola N; Silva, Clovis A
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.
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
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
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)
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
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.
Butler, Jill V; Whittington, Joyce E; Holland, Anthony J; McAllister, Catherine J; Goldstone, Anthony P
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.
Gulewitsch, M D; Weimer, K; Enck, P; Schwille-Kiuntke, J; Hautzinger, M; Schlarb, A A
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®.
Al-Mohtadi, Reham Mohammad; Al-Msubheen, Moonerh Mheel
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…
Gaw, Albert C.; Lee, Byron; Gervacio-Domingo, Giselle; Antzelevitch, Charles; Divinagracia, Romeo; Jocano, Felipe
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
Doumlele, Kyra; Friedman, Daniel; Buchhalter, Jeffrey; Donner, Elizabeth J; Louik, Jay; Devinsky, Orrin
Children with benign epilepsy with centrotemporal spikes (BECTS) have traditionally been considered to have a uniformly good prognosis. However, benign may be a misnomer because BECTS is linked to cognitive deficits, a more severe phenotype with intractable seizures, and the potential for sudden unexpected death in epilepsy (SUDEP). To determine if cases of BECTS are present in the North American SUDEP Registry (NASR). The NASR is a clinical and biospecimen repository established in 2011 to promote SUDEP research. The NASR database, which includes medical records, results of electroencephalographic tests, and interviews with family members of patients with epilepsy who died suddenly without other identifiable causes of death, was queried from June 3, 2011, to June 3, 2016, for cases of BECTS. The patients with epilepsy had died suddenly without other identifiable causes of death (eg, drowning, trauma, exposure to toxic substances, or suicide); SUDEP classification was determined by the consensus of 2 epileptologists. Cases of SUDEP among children who received a diagnosis of BECTS among patients reported in the NASR. Three boys (median age at death, 12 years; range, 9-13 years) who received a diagnosis of BECTS by their pediatric epileptologist or neurologists were identified among 189 cases reported in the NASR. The median age of epilepsy onset was 5 years (range, 3-11 years), and the median duration of epilepsy was 4 years (range, 1-10 years). Two deaths were definite SUDEP, and 1 was probable SUDEP. Independent review of clinical and electroencephalographic data supported the diagnosis of BECTS in all 3 patients. None of the patients was prescribed antiseizure drugs, either owing to physician recommendation or mutual decision by the physician and parents. All 3 patients were found dead in circumstances typical of SUDEP. The 3 patients spanned the spectrum of BECTS severity: 1 had only a few seizures, 1 had more than 30 focal motor seizures, and 1 had 4 witnessed
Mentec, Margaux; Flahault, Cécile
Although children's psychological adaptation to parental cancer is a wide field for psycho-oncological research, few empirical studies target children bereavement specifically following parental cancer. In this paper, our purpose is to make a state of art about literature concerning parental death. Literature dealing with grief concerns psychopathological consequences of parental loss and most recently post-traumatic growth. Although references about support programs have emerged, few of these programs have been scientifically evaluated. This review underlines that more studies are needed with prospective quantitative and qualitative studies, in order to describe more precisely children bereavement process and long term effects of bereavement. Psychological support for other family members and evaluation of support programs seem to be critical to improve children adaptation to parental death. Copyright © 2015 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.
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.
Rofey, Dana L; El Nokali, Nermeen E; Jackson Foster, Lovie J; Seiler, Emily; McCauley, Heather L; Miller, Elizabeth
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.
Groß, Maximilian; Bajanowski, Thomas; Vennemann, Mechtild; Poetsch, Micaela
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.
Polednak, Anthony P
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.
Hu, Zhaoyang; Kant, Ritu; Anand, Marie; King, Elizabeth C.; Krogh-Madsen, Trine; Christini, David J.; Abbott, Geoffrey W.
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
Hinton, Devon; Hinton, Susan; Um, Khin; Chea, Audria; Sak, Sophia
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
Raza, Farhan; Sultan, Mubashar; Qamar, Khola; Jawad, Ali; Jawa, Ali
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
Mitsumoto, H; Schwartzman, M J; Estes, M L; Chou, S M; La Franchise, E F; De Camilli, P; Solimena, M
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.
Klintschar, Michael; Heimbold, Christian
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.
Ludolph, Andrea G; Roessner, Veit; Münchau, Alexander; Müller-Vahl, Kirsten
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.
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
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
Yokogawa, Naoto; Lieberman, Scott M; Sherry, David D; Vivino, Frederick B
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.
Virzì, Grazia Maria; Clementi, Anna; Brocca, Alessandra; de Cal, Massimo; Marcante, Stefano; Ronco, Claudio
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.
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...
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
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.
de Armas, María Guadalupe Guijarro; Megías, Susana Monereo; Modino, Soralla Civantos; Bolaños, Paloma Iglesias; Guardiola, Patricia Díaz; Alvarez, Teresa Montoya
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.
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
Israel, Lee P.; Benharoch, Daniel; Gopas, Jacob; Goldbart, Aviv D.
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
Hao, Jin-Li; Wang, Bao-Jin; Baptiste, Jean
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.
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.
Dessardo, Nada Sindičić; Dessardo, Sandro; Mustać, Elvira; Banac, Srđan; Petrović, Oleg; Peter, Branimir
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.
Hayden, Melvin R.; Sowers, James R.
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
Arslan, M N; Kertmen, Ç; Esen Melez, I; Melez, D O
Traumatic asphyxia is a rare clinical syndrome usually caused by sudden and severe thoracic and/or thoracoabdominal compression. It presents with craniofacial cyanosis, petechiae, and subconjunctival haemorrhages. The present study employed a postmortem retrospective methodology to analyse autopsy findings and accompanying injuries in cases of death due to traumatic asphyxia. Four years of case files from a morgue department at a forensic medicine institute were searched and 53 cases of lethal traumatic asphyxia were found. These cases were then classified into groups and compared using the Injury Severity Score (ISS) and New Injury Severity Score (NISS) indices to measure trauma. The individuals had died due to occupational (n = 28; 52.8%), farm (n = 10; 18.9%), traffic (n = 9; 17.0%) or household (n = 6; 11.3%) accidents. At the external examination, conjunctival petechiae (60.4%) and petechiae on the face/neck (52.8%); at the autopsy, subpleural petechiae (58.5%) and petrous ridge hemorrgahe (without skull base fracture) (56.6%) were the most common findings. A finding of petrous ridge hemorrgahe was very common in the cases without any accompanying injuries (Group A in which mean Injury Severity Score was 0.83 ± 0.98). Traumatic asphyxia is usually suspected from the given circumstances before an autosopy is performed. In cases without hospitalisation, any of the following signs may lead the physician to diagnose traumatic asphyxia as the cause of death: petechiae on the upper parts of the body and conjunctiva, petechiae on serous membranes (including subpleural regions), signs of petrous ridge haemorrhage without skull base fracture. Copyright © 2018 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.
Yahyaoui, Raquel; Espinosa, María Gracia; Gómez, Celia; Dayaldasani, Anita; Rueda, Inmaculada; Roldán, Ana; Ugarte, Magdalena; Lastra, Gonzalo; Pérez, Vidal
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 Â© 2011 Elsevier Inc. All rights reserved.
Walsh, Paul; Vieth, Teri; Rodriguez, Carolina; Lona, Nicole; Molina, Rogelio; Habebo, Emnet; Caldera, Enrique; Garcia, Cynthia; Veazey, Gregory
Background. Pacifier use decreases the risk of sudden infant death syndrome (SIDS). An emergency department (ED) visit may provide an opportunistic 'teachable moment' for parents. Objectives. To test the hypotheses (1) that caregivers were less familiar with the role of pacifiers in sudden infant death (SIDS) prevention than other recommendations, and (2) that an ED educational intervention would increase pacifier use in infants younger than six months, and (3) that otitis media would not occur more frequently in pacifier users. Methods. We did an intervention-group-only longitudinal study in a county hospital ED. We measured pacifier use infants and baseline knowledge of SIDs prevention recommendations in caregivers. We followed up three months later to determine pacifier use, and 12 months later to determine episodes of otitis media. Results. We analyzed data for 780 infants. Parents knew of advice against co-sleeping in 469/780 (60%), smoking in 660/776 (85%), and prone sleeping in 613/780 (79%). Only 268/777 (35%) knew the recommendation to offer a pacifier at bedtime. At enrollment 449/780 (58%) did not use a pacifier. Of 210/338 infants aged less than 6 months followed up 41/112 (37%) non-users had started using a pacifier at bedtime (NNT 3). Over the same period, 37/98 (38%) users had discontinued their pacifier. Otitis media did not differ between users and non-users at 12 months. Conclusion. Caregiver knowledge of the role of pacifiers in SIDS prevention was less than for other recommendations. Our educational intervention appeared to increase pacifier use. Pacifier use was not associated with increased otitis media.
Wood, Angela M; Pasupathy, Dharmintra; Pell, Jill P; Fleming, Michael; Smith, Gordon C S
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.
Davin, J C; Merkus, M P
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.
Bajanowski, T; Brinkmann, B; Mitchell, E A; Vennemann, M M; Leukel, H W; Larsch, K-P; Beike, J
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.
Berenson, Gerald S; Srinivasan, Sathanur R; Xu, Ji Hua; Chen, Wei
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.
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.
Liu, Yun; Scirica, Benjamin M; Stultz, Collin M; Guttag, John V
Frequency domain measures of heart rate variability (HRV) are associated with adverse events after a myocardial infarction. However, patterns in the traditional frequency domain (measured in Hz, or cycles per second) may capture different cardiac phenomena at different heart rates. An alternative is to consider frequency with respect to heartbeats, or beatquency. We compared the use of frequency and beatquency domains to predict patient risk after an acute coronary syndrome. We then determined whether machine learning could further improve the predictive performance. We first evaluated the use of pre-defined frequency and beatquency bands in a clinical trial dataset (N = 2302) for the HRV risk measure LF/HF (the ratio of low frequency to high frequency power). Relative to frequency, beatquency improved the ability of LF/HF to predict cardiovascular death within one year (Area Under the Curve, or AUC, of 0.730 vs. 0.704, p < 0.001). Next, we used machine learning to learn frequency and beatquency bands with optimal predictive power, which further improved the AUC for beatquency to 0.753 (p < 0.001), but not for frequency. Results in additional validation datasets (N = 2255 and N = 765) were similar. Our results suggest that beatquency and machine learning provide valuable tools in physiological studies of HRV.
De Paz, Juan F.; Barriuso, Alberto L.
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
Studer, Jacqueline; Bartsch, Christine; Haas, Cordula
Failure in the regulation of homeostatic water balance in the brain is associated with severe cerebral edema and increased brain weights and may also play an important role in the pathogenesis of sudden infant death syndrome (SIDS). We genotyped three single-nucleotide polymorphisms in the aquaporin-4 water channel-encoding gene (AQP4), which were previously shown to be associated with (i) SIDS in Norwegian infants (rs2075575), (ii) severe brain edema (rs9951307), and (iii) increased brain water permeability (rs3906956). We also determined whether the brain/body weight ratio is increased in SIDS infants compared with sex- and age-matched controls. Genotyping of the three AQP4 single-nucleotide polymorphisms was performed in 160 Caucasian SIDS infants and 181 healthy Swiss adults using a single-base extension method. Brain and body weights were measured during autopsy in 157 SIDS and 59 non-SIDS infants. No differences were detected in the allelic frequencies of the three AQP4 single-nucleotide polymorphisms between SIDS and adult controls. The brain/body weight ratio was similarly distributed in SIDS and non-SIDS infants. Variations in the AQP4 gene seem of limited significance as predisposing factors in Caucasian SIDS infants. Increased brain weights may only become evident in conjunction with environmental or other genetic risk factors.
Bergman, Nils J
AIM To identify a hypothesis on: Supine sleep, sudden infant death syndrome (SIDS) reduction and association with increasing autism incidence. METHODS Literature was searched for autism spectrum disorder incidence time trends, with correlation of change-points matching supine sleep campaigns. A mechanistic model expanding the hypothesis was constructed based on further review of epidemiological and other literature on autism. RESULTS In five countries (Denmark, United Kingdom, Australia, Israel, United States) with published time trends of autism, change-points coinciding with supine sleep campaigns were identified. The model proposes that supine sleep does not directly cause autism, but increases the likelihood of expression of a subset of autistic criteria in individuals with genetic susceptibility, thereby specifically increasing the incidence of autism without intellectual disability. CONCLUSION Supine sleep is likely a physiological stressor, that does reduce SIDS, but at the cost of impact on emotional and social development in the population, a portion of which will be susceptible to, and consequently express autism. A re-evaluation of all benefits and harms of supine sleep is warranted. If the SIDS mechanism proposed and autism model presented can be verified, the research agenda may be better directed, in order to further decrease SIDS, and reduce autism incidence. PMID:27610351
Yang, S; Li, X; Chen, C; Kyveryga, P; Yang, X B
Moderate resolution imaging spectroradiometer (MODIS) satellite imagery from 2004 to 2013 were used to assess the field-specific risks of soybean sudden death syndrome (SDS) caused by Fusarium virguliforme in Iowa. Fields with a high frequency of significant decrease (>10%) of the normalized difference vegetation index (NDVI) observed in late July to middle August on historical imagery were hypothetically considered as high SDS risk. These high-risk fields had higher slopes and shorter distances to flowlines, e.g., creeks and drainages, particularly in the Des Moines lobe. Field data in 2014 showed a significantly higher SDS level in the high-risk fields than fields selected without considering NDVI information. On average, low-risk fields had 10 times lower F. virguliforme soil density, determined by quantitative polymerase chain reaction, compared with other surveyed fields. Ordinal logistic regression identified positive correlations between SDS and slope, June NDVI, and May maximum temperature, but high June maximum temperature hindered SDS. A modeled SDS risk map showed a clear trend of potential disease occurrences across Iowa. Landsat imagery was analyzed similarly, to discuss the ability to utilize higher spatial resolution data. The results demonstrated the great potential of both MODIS and Landsat imagery for SDS field-specific risk assessment.
De La Iglesia, Daniel H; De Paz, Juan F; Villarrubia González, Gabriel; Barriuso, Alberto L; Bajo, Javier
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.
Charland-Verville, Vanessa; Lugo, Zulay; Jourdan, Jean-Pierre; Donneau, Anne-Françoise; Laureys, Steven
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.
Alm, B; Wennergren, G; Norvenius, S; Skjaerven, R; Lagercrantz, H; Helweg-Larsen, K; Irgens, L
Aims: To assess the effects of breast feeding habits on sudden infant death syndrome (SIDS). Methods: The analyses are based on data from the Nordic Epidemiological SIDS Study, a case–control study in which parents of SIDS victims in the Scandinavian countries between 1 September 1992 and 31 August 1995 were invited to participate, each with parents of four matched controls. The odds ratios presented were computed by conditional logistic regression analysis. Results: After adjustment for smoking during pregnancy, paternal employment, sleeping position, and age of the infant, the adjusted odds ratio (95% CI) was 5.1 (2.3 to 11.2) if the infant was exclusively breast fed for less than four weeks, 3.7 (1.6 to 8.4) for 4–7 weeks, 1.6 (0.7 to 3.6) for 8–11 weeks, and 2.8 (1.2 to 6.8) for 12–15 weeks, with exclusive breast feeding over 16 weeks as the reference. Mixed feeding in the first week post partum did not increase the risk. Conclusions: The study is supportive of a weak relation between breast feeding and SIDS reduction. PMID:12023166
Spiers, P S; Guntheroth, W G
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
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.
Copeland, Glenn E; Kirby, Russell S
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
Kazi, S; Shultz, J; Afzal, J; Johnson, J; Njiti, V N; Lightfoot, D A
Soybean [Glycine max (L.) Merr.] cultivars show differences in their resistance to both the leaf scorch and root rot of sudden death syndrome (SDS). The syndrome is caused by root colonization by Fusarium virguliforme (ex. F. solani f. sp. glycines). Root susceptibility combined with reduced leaf scorch resistance has been associated with resistance to Heterodera glycines HG Type 188.8.131.52 (race 14) of the soybean cyst nematode (SCN). In contrast, the rhg1 locus underlying resistance to Hg Type 0 was found clustered with three loci for resistance to SDS leaf scorch and one for root infection. The aims of this study were to compare the inheritance of resistance to leaf scorch and root infection in a population that segregated for resistance to SCN and to identify the underlying quantitative trait loci (QTL). "Hartwig", a cultivar partially resistant to SDS leaf scorch, F. virguliforme root infection and SCN HG Type 184.108.40.206 was crossed with the partially susceptible cultivar "Flyer". Ninety-two F5-derived recombinant inbred lines and 144 markers were used for map development. Four QTL found in earlier studies were confirmed. One contributed resistance to leaf scorch on linkage group (LG) C2 (Satt277; P = 0.004, R2 = 15%). Two on LG G underlay root infection at R8 (Satt038; P = 0.0001 R2 = 28.1%; Satt115; P = 0.003, R2 = 12.9%). The marker Satt038 was linked to rhg1 underlying resistance to SCN Hg Type 0. The fourth QTL was on LG D2 underlying resistance to root infection at R6 (Satt574; P = 0.001, R2 = 10%). That QTL was in an interval previously associated with resistance to both SDS leaf scorch and SCN Hg Type 220.127.116.11. The QTL showed repulsion linkage with resistance to SCN that may explain the relative susceptibility to SDS of some SCN resistant cultivars. One additional QTL was discovered on LG G underlying resistance to SDS leaf scorch measured by disease index (Satt130; P = 0.003, R2 = 13%). The loci and markers will provide tagged alleles with which to improve
Park, S H; Videlock, E J; Shih, W; Presson, A P; Mayer, E A; Chang, L
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.
Rumman, Rawan K; Nickel, Cheri; Matsuda-Abedini, Mina; Lorenzo, Armando J; Langlois, Valerie; Radhakrishnan, Seetha; Amaral, Joao; Mertens, Luc; Parekh, Rulan S
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: firstname.lastname@example.org.
Bauça, Josep Miquel; Yañez, Aina; Fueyo, Laura; de la Peña, Mónica; Pierola, Javier; Sánchez-de-la-Torre, Alicia; Mediano, Olga; Cabriada-Nuño, Valentín; Masdeu, María José; Teran-Santos, Joaquin; Duran-Cantolla, Joaquin; Masa, Juan Fernando; Abad, Jorge; Sanchez-de-la-Torre, Manuel; Barbé, Ferran; Barceló, Antònia
Nucleosomes and cell-free double-stranded DNA (dsDNA) have been suggested as promising biomarkers in cell death-related diseases, such as acute coronary syndrome (ACS). Currently, the impact of obstructive sleep apnea (OSA) in patients with ACS is unclear. Our aim was to evaluate the relationship between OSA, dsDNA, and nucleosomes and to assess their potential implication in the development of ACS. Up to 549 patients were included in the study and divided into four groups (145 ACS; 290 ACS + OSA; 62 OSA; 52 controls). All patients underwent a sleep study, and serum concentrations of dsDNA and nucleosomes were measured. Nucleosome and dsDNA levels were higher in patients with OSA than in controls (nucleosomes: 1.47 ± 0.88 arbitary units [AU] vs. 1.00 ± 0.33 AU; p < .001, dsDNA: 315.6 ± 78.0 ng/mL vs. 282.6 ± 55.4 ng/mL; p = .007). In addition, both biomarker levels were higher in patients with ACS than in non-ACS, independently of the presence of OSA. Both nucleosomes and dsDNA are increased in patients with OSA and might be related with the high cardiovascular risk seen in these patients. The extensive cell lysis during a myocardial infarction seems to be the major contributor to the high biomarker levels, and OSA does not seem to be implicated in such elevation when this acute event occurs. NCT01335087 (clinicaltrials.gov). © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail email@example.com.
Sherburn, R E; Jenkins, R O
To investigate aerial release of bacteria from used cot mattresses and to assess factors that may influence this process. Movement on used mattresses, simulating that of an infant's head, significantly enhanced aerial release of naturally acquired bacteria from the polyurethane foams (total count data, P = 0.008; Staphylococcus aureus, P = 0.004) or from polyvinyl chloride covers (total count data, P = 0.001). Aerial release of naturally acquired bacteria from used cot mattresses showed high variability and was poorly correlated (R2 < or = 0.294) with bacterial cell density within the materials. In experiments involving inoculation of S. aureus and Escherichia coli onto the polyurethane of unused cot mattresses, aerial release of the species correlated well (R2 > or = 0.950) with inoculation density when simulated infant head movement was applied. Aerial release of these bacterial species from the material decreased with increase in width or aqueous content of the material, and was lower from polyurethane foam of a used cot mattress. Simulated infant movement and mattress related factors influence aerial release of bacteria from cot mattress materials. With simulated infant movement on cot mattress polyurethane foam, levels of airborne bacteria above the material are proportional to bacterial population levels inoculated onto the material. Cot mattresses harbouring relatively high levels of naturally acquired toxigenic bacteria, such as S. aureus, could pose a relatively high risk of infection to the infant's respiratory tract through increased aerial contamination. This has impact in the context of recent findings on cot mattress related risk factors for sudden infant death syndrome.
Müller-Nordhorn, Jacqueline; Hettler-Chen, Chih-Mei; Keil, Thomas; Muckelbauer, Rebecca
Sudden infant death syndrome (SIDS) continues to be one of the main causes of infant mortality in the United States. The objective of this study was to analyse the association between diphtheria-tetanus-pertussis (DTP) immunisation and SIDS over time. The Centers for Disease Control and Prevention provided the number of cases of SIDS and live births per year (1968-2009), allowing the calculation of SIDS mortality rates. Immunisation coverage was based on (1) the United States Immunization Survey (1968-1985), (2) the National Health Interview Survey (1991-1993), and (3) the National Immunization Survey (1994-2009). We used sleep position data from the National Infant Sleep Position Survey. To determine the time points at which significant changes occurred and to estimate the annual percentage change in mortality rates, we performed joinpoint regression analyses. We fitted a Poisson regression model to determine the association between SIDS mortality rates and DTP immunisation coverage (1975-2009). SIDS mortality rates increased significantly from 1968 to 1971 (+27% annually), from 1971 to 1974 (+47%), and from 1974 to 1979 (+3%). They decreased from 1979 to 1991 (-1%) and from 1991 to 2001 (-8%). After 2001, mortality rates remained constant. DTP immunisation coverage was inversely associated with SIDS mortality rates. We observed an incidence rate ratio of 0.92 (95% confidence interval: 0.87 to 0.97) per 10% increase in DTP immunisation coverage after adjusting for infant sleep position. Increased DTP immunisation coverage is associated with decreased SIDS mortality. Current recommendations on timely DTP immunisation should be emphasised to prevent not only specific infectious diseases but also potentially SIDS.
Bravo, Karina; Eugenín, Jaime L; Llona, Isabel
High serotonin levels during pregnancy affect central nervous system development. Whether a commonly used antidepressant such as fluoxetine (a selective serotonin reuptake inhibitor) taken during pregnancy may adversely affect respiratory control in offspring has not been determined. The objective was to determine the effect of prenatal-perinatal fluoxetine exposure on the respiratory neural network in offspring, particularly on central chemoreception. Osmotic minipumps implanted into CF-1 mice on Days 5-7 of pregnancy delivered 7 milligrams per kilogram per day of fluoxetine, achieving plasma levels within the range found in patients. Ventilation was assessed in offspring at postnatal Days 0-40 using head-out body plethysmography. Neuronal activation was evaluated in the raphe nuclei and in the nucleus tractus solitarius by c-Fos immunohistochemistry during normoxic eucapnia and hypercapnia (10% CO2). Respiratory responses to acidosis were evaluated in brainstem slices. Prenatal-perinatal fluoxetine did not affect litter size, birth weight, or the postnatal growth curve. Ventilation under eucapnic normoxic conditions was similar to that of control offspring. Fluoxetine exposure reduced ventilatory responses to hypercapnia at P8-P40 (P < 0.001) but not at P0-P5. At P8, it reduced hypercapnia-induced neuronal activation in raphe nuclei (P < 0.05) and nucleus tractus solitarius (P < 0.01) and the acidosis-induced increase in the respiratory frequency in brainstem slices (P < 0.05). Fluoxetine applied acutely on control slices did not modify their respiratory response to acidosis. We concluded that prenatal-perinatal fluoxetine treatment impairs central respiratory chemoreception during postnatal life. These results are relevant in understanding the pathogenesis of respiratory failures, such as sudden infant death syndrome, associated with brainstem serotonin abnormalities and the failure of respiratory chemoreflexes.
Richards, Marcus; Black, Stephanie; Mishra, Gita; Gale, Catharine R.; Deary, Ian J.; Batty, David G.
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…
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
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.
Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H
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.
Roy, Mandy; Prox-Vagedes, Vanessa; Ohlmeier, Martin D; Dillo, Wolfgang
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.
Fleming, P J; Gilbert, R; Azaz, Y; Berry, P J; Rudd, P T; Stewart, A; Hall, E
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
Mizuno, Kei; Tanaka, Masaaki; Tanabe, Hiroki C; Joudoi, Takako; Kawatani, Junko; Shigihara, Yoshihito; Tomoda, Akemi; Miike, Teruhisa; Imai-Matsumura, Kyoko; Sadato, Norihiro; Watanabe, Yasuyoshi
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.
Mizuno, Kei; Tanaka, Masaaki; Tanabe, Hiroki C.; Joudoi, Takako; Kawatani, Junko; Shigihara, Yoshihito; Tomoda, Akemi; Miike, Teruhisa; Imai-Matsumura, Kyoko; Sadato, Norihiro; Watanabe, Yasuyoshi
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
Lagrue, E; Abert, B; Nadal, L; Tabone, L; Bodard, S; Medja, F; Lombes, A; Chalon, S; Castelnau, P
The basal ganglia, which are interconnected in the striato-nigral dopaminergic network, are affected in several childhood diseases including Leigh syndrome (LS). LS is the most common mitochondrial disorder affecting children and usually arise from inhibition of the respiratory chain. This vulnerability is attributed to a particular susceptibility to energetic stress, with mitochondrial inhibition as a common pathogenic pathway. In this study we developed a LS model for neuroprotection trials in mice by using the complex I inhibitor MPTP. We first verified that MPTP significantly inhibits the mitochondrial complex I in the brain (p = 0.018). This model also reproduced the biochemical and pathological features of LS: MPTP increased plasmatic lactate levels (p = 0.023) and triggered basal ganglia degeneration, as evaluated through dopamine transporter (DAT) autoradiography, tyrosine hydroxylase (TH) immunohistochemistry, and dopamine dosage. Striatal DAT levels were markedly decreased after MPTP treatment (p = 0.003). TH immunoreactivity was reduced in the striatum and substantia nigra (p = 0.005), and striatal dopamine was significantly reduced (p < 0.01). Taken together, these results confirm that acute MPTP intoxication in young mice provides a reproducible pharmacological paradigm of LS, thus opening new avenues for neuroprotection research.
Heitkemper, Margaret M.; Cain, Kevin C.; Burr, Robert L.; Jun, Sang-Eun; Jarrett, Monica E.
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
Kim, Jongoh; Son, Mia; Kawachi, Ichiro; Oh, Juhwan
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
Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances
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.
Adib, N; Davies, K; Grahame, R; Woo, P; Murray, K J
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.
Shin, Jaeseung; Kwon, Donghyok; Youn, Seung-Ki; Park, Ji-Hyuk
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.
Vasudeva, Akhila; Bhat, Rajeshwari G; Ramachandran, Amar; Kumar, Pratap
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.
Al Saadi, Tareq; Sawaf, Bisher; Alkhatib, Mahmoud; Zakaria, Mhd Ismael; Daaboul, Bisher
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
Sauer, Charles W; Marc-Aurele, Krishelle L
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.
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.
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
Wood, Angela M; Pasupathy, Dharmintra; Pell, Jill P; Fleming, Michael
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
Sevilla, Julián; Fernández-Plaza, Sandra; Lassaletta, Alvaro; González-Vicent, Marta; Contra, Trinidad; Madero, Luis
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.
Zheng, Jinxiang; Huang, Erwen; Tang, Shuangbo; Wu, Qiuping; Huang, Lei; Zhang, Dongchuan; Quan, Li; Liu, Chao; Cheng, Jianding
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
... 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 ...
Wagner, Kayla E.; Kates, Wendy R.; Fremont, Wanda; Antshel, Kevin M.
The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were…
Williams, Monica M; Kemp, Blakelee R; Ferraro, Kenneth F; Mustillo, Sarah A
Although previous research reveals the detrimental effects of early misfortune on the development of chronic diseases in later life, few studies have investigated its effects on remaining disease free. This study draws on cumulative inequality theory to investigate whether experiencing childhood misfortune reduces the likelihood of remaining disease free over time. This study utilizes five waves of data from the Health and Retirement Study to test whether five domains of childhood misfortune predict being disease free at baseline (2004) and developing disease over time (2004-2012). Respondents reporting risky parental behaviors during childhood were less likely to be disease free at baseline and had an increased risk of disease onset over time, the latter driven by having a guardian who smoked in combination with more pack-years smoked in adulthood. Furthermore, we find that adult resources, i.e. wealth, help to mitigate the noxious effects of other misfortunes, notably poor socioeconomic conditions. Consistent with cumulative inequality theory, these findings reveal that experiencing multiple types of misfortune during childhood decreases the likelihood of remaining disease free in later life, but engaging in health behaviors, such as physical activity, can help to ameliorate some of the noxious effects of early misfortune.
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
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.
Walshe, Criona M; Cooper, James D; Kossmann, Thomas; Hayes, Ivan; Iles, Linda
A 19-year-old woman with multiple fractures and mild brain injury developed severe cerebral fat embolism syndrome after "damage control" orthopaedic surgery. Acetazolamide therapy to manage ocular trauma, in association with hyperchloraemia, caused a profound metabolic acidosis with appropriate compensatory hypocapnia. During ventilator weaning, unexpected brainstem coning followed increased sedation and brief normalisation of arterial carbon dioxide concentration. Autopsy found severe cerebral fat embolism and brain oedema. In patients with multiple trauma, cerebral fat embolism syndrome is difficult to diagnose, and may be more common after delayed fixation of long-bone fractures. Acetazolamide should be used with caution, as sudden restoration of normocapnia during compensated metabolic acidosis in patients with raised intracranial pressure may precipitate coning.
Fowler, Aja J; Evans, Patricia W; Etchegaray, Jason M; Ottenbacher, Allison; Arnold, Cody
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.
Huang, Lei; Tang, Shuangbo; Chen, Yili; Zhang, Liyong; Yin, Kun; Wu, Yeda; Zheng, Jinxiang; Wu, Qiuping; Makielski, Jonathan C.
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
Shamsuzzaman, Abu S; Somers, Virend K; Knilans, Timothy K; Ackerman, Michael J; Wang, Yu; Amin, Raouf S
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.
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
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.
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
Nguyen, Nhung T T; Schindler, Christian; Lien, Nguyen T B; Probst-Hensch, Nicole; Lan, Vu T H; Künzli, Nino; Perez, Laura
Objective To describe hospital admission and emergency visit rates and potential risk factors of prolonged hospitalisation and death among children in Hanoi. Study design A retrospective study reviewed 212 216 hospitalisation records of children (aged 0–17) who attended the Vietnam National Children's Hospital in Hanoi between 2007 and 2014. Four indicators were analysed and reported: (1) rate of emergency hospital visits, (2) rate of hospitalisation, (3) length of hospital stay and (4) number of deaths. The risk of prolonged hospitalisation was investigated using Cox proportion hazard, and the risk of death was investigated through logistic regressions. Results During 2007–2014, the average annual rate of emergency visits was 2.2 per 1000 children and the rate of hospital admissions was 13.8 per 1000 children. The annual rates for infants increased significantly by 3.9 per 1000 children during 2012–2014 for emergency visits and 25.1 per 1000 children during 2009–2014 for hospital admissions. Digestive diseases (32.0%) and injuries (30.2%) were common causes of emergency visits, whereas respiratory diseases (37.7%) and bacterial and parasitic infections (19.8%) accounted for most hospital admissions. Patients with mental and behavioural disorders remained in the hospital the longest (median=12 days). Morbidities related to the perinatal period dominated mortality causes (32.5% of deaths among those admitted to the hospital. Among the respiratory diseases, pneumonia was the leading cause of both prolonged hospitalisation and death. Conclusions Preventable health problems, such as common bacterial infections and respiratory diseases, were the primary causes of hospital admissions in Vietnam. PMID:28760788
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.
Rivers, Caitlin M; Majumder, Maimuna S; Lofgren, Eric T
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: firstname.lastname@example.org.
Y-Hassan, Shams; Feldt, Kari; Stålberg, Marcus
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.
Érlikh, A D
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.
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…
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 ...
... 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. ...
Abbott, David H; Bacha, Fida
PCOS is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman’s lifetime risk of type 2 DM. It is heritable and intensely familial. Progress towards a cure has been delayed by absence of an etiology. Evidence is mounting, however, for in utero T excess, together with gestational hyperglycemia, contributing to either early differentiation of PCOS or phenotypic amplification of its genotypes. Abnormal endocrine, ovarian and hyperinsulinemia traits are detectable as early as 2-months of age in daughters of women with PCOS, with adiposity enhancement of hyperinsulinemia during childhood potentially contributing to hyperandrogenism and LH excess by adolescence. These findings encourage increasing clinical focus on early childhood markers for adiposity and hyperinsulinemia accompanying ovarian and adrenal endocrine abnormalities that precede a diagnosable PCOS phenotype. They raise the possibility for lifestyle or therapeutic intervention prior to and during pregnancy or during childhood and adolescence alleviating the manifestations of a familial genetic predisposition to PCOS. PMID:23809624
Buckland, Amy; Phillips, Marianne B.; Cole, Catherine H.; Gottardo, Nicholas G.
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
Liu, Jinlin; Zhao, Zhao; Zou, Yuqiong; Zhang, Mei; Zhou, Yonglie; Li, Yasong; Pang, Zhenzhen; Jin, Weidong
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.
Manganaro, Sheryl; Loddenkemper, Tobias; Rotenberg, Alexander
Antiepileptic drug (AED) chronotherapy involves the delivery of a greater AED dose at the time of greatest seizure susceptibility usually associated with predictable seizure peaks. Although research has proven AED chronotherapy, commonly known as differential dosing, to be safe, well tolerated, and highly effective in managing cyclic seizure patterns in selected childhood epilepsies, conventional, equally divided AED dosing remains the standard of care. Differential dosing is more often applied in the emergency management of acute seizure clustering resulting from drug resistance—a harmful epilepsy-related consequence that affects 30% of children. Moreover, drug resistance is a major risk factor in status epilepticus and sudden, unexpected death in epilepsy. Although these facts should promote the wider use of differential dosing in selected cases, a credible hypothesis is needed that defines the differential dosing strategy and application in cyclic epilepsy and for the greater purpose of preventing harmful outcomes. PMID:29308021
Botash, A S; Fuller, P G; Blatt, S D; Church, C C; Weinberger, H L
A review of recent literature helps to clarify normal variations in the physical examination of children who are thought to have been sexually abused. In many instances, no abnormal physical findings are discovered. Clinicians must continue to pay careful attention to the history and work with other professionals to implement appropriate management, despite the lack of physical findings. Guidelines for evaluating sudden and unexpected infant deaths are reviewed. The current recommendations of the American Academy of Pediatrics for infant sleep positions are discussed in light of epidemiologic studies in the United States and other countries. Attention-deficit hyperactivity disorder appears to respond best to a combination of stimulant medication, parent training in coping with behavior of affected children, and social skill training for the affected children themselves. A review of recent research failed to reach consistent correlations between resistance to thyroid hormone and attention-deficit hyperactivity disorder.
Early childhood education is a profession which requires the professional staff to spend considerable time in intense involvement with other people. The pressure from the demands this profession has can create a sense of physical and emotional exhaustion that often leads to burnout. Thus, previous research has linked perceptions of the work…
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
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
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
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
Benzinou, Michael; Walley, Andrew; Lobbens, Stephan; Charles, Marie-Aline; Jouret, Béatrice; Fumeron, Frédéric; Balkau, Beverley; Meyre, David; Froguel, Philippe
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.
Gollenberg, Audra; Fendley, Kim
Sudden infant death syndrome (SIDS) remains a leading cause of infant death in the United States and in Virginia, the SIDS rate is higher than the national average. We sought to gauge the perceptions among community-identified stakeholders as to community resource needs to reduce SIDS. We used snowball sampling to identify important community stakeholders to be interviewed as key informants. A semi-structured interview lasting 45 min-2 hours was delivered to determine resource needs to reduce SIDS, and whether high-risk community members were aware of SIDS risk factors among stakeholders representing a variety of disciplines. Interviews were conducted in two geographic areas with higher than average rates of infant mortality, an urban district, Winchester City, VA and a rural district, Page County, VA. A total of 74 interviews were completed with stakeholders in healthcare, health departments, social services, law enforcement, education/childcare, faith-based institutions, non-profit agencies and non-affiliated community members. The majority of respondents perceive that high-risk community members are not aware of factors that can lead to SIDS (50%). Participants suggested that more "education" is needed to further reduce the rates of SIDS in their communities (73%). Respondents detailed that more pervasive, strategic, and multi-channeled education is necessary to reduce cases of SIDS. Community leaders perceive that high-risk community members are not fully aware of risk factors that can lead to SIDS. Maternal/child health stakeholders in these Virginia locales suggested more community-based education as a potential solution to SIDS.
Pease, Anna S; Blair, Peter S; Ingram, Jenny; Fleming, Peter J
To investigate mothers' knowledge of reducing the risks for sudden infant death syndrome (SIDS) and attitudes towards safer sleep practices. A cross-sectional survey was carried out in deprived areas of Bristol, UK. Recruitment took place in 2014 at local health visitor-led baby clinics. Of 432 mothers approached, 400 (93%) completed the face-to-face survey. Participants with infants at 'higher' risk of SIDS (using an algorithm based on a previous observational study) were compared with those at 'lower' risk. The survey asked participants to recall three SIDS risk reduction strategies (unprompted), and scored responses to 14 SIDS risk-related infant sleep scenarios (prompted). Overall, 48/400 (12%) mothers were classified as higher risk. Mothers in the higher risk group were less likely to breast feed (multivariate OR=3.59(95% CI 1.46 to 8.86)), less likely to be able to cite two or more unprompted correct SIDS risk reduction strategies (multivariate OR=2.05(95% CI 1.02 to 4.13)) and scored lower on prompted safer sleep scenarios overall.Notably, only 206/400 (52%) of all mothers surveyed (33% in the higher risk group) from these deprived areas in Bristol identified infant sleep position as a risk reduction strategy for SIDS, despite 25 years of campaigns. Mothers in the higher risk group were disadvantaged when it came to some aspects of knowledge of SIDS risk reduction and attitudes to safer sleep. The initial 'Back-to Sleep' message that dramatically reduced these deaths a generation ago needs more effective promotion for today's generation of mothers. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Häuser, Winfried; Hoffmann, Eva-Maria; Wolfe, Frederick; Worthing, Angus B; Stahl, Neil; Rothenberg, Russell; Walitt, Brian
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.
Stheneur, Chantal; Tubach, Florence; Jouneaux, Marlène; Roy, Carine; Benoist, Gregoire; Chevallier, Bertrand; Boileau, Catherine; Jondeau, Guillaume
Because diagnosis of Marfan syndrome is difficult during infancy, we used a large cohort of children to describe the evolution of the Marfan syndrome phenotype with age. Two hundred and fifty-nine children carrying an FBN1 gene mutation and fulfilling Ghent criteria were compared with 474 non-Marfan syndrome children. Prevalence of skeletal features changed with aging: prevalence of pectus deformity increased from 43% at 0-6 years to 62% at 15-17 years, wrist signs increased from 28 to 67%, and scoliosis increased from 16 to 59%. Hypermobility decreased from 67 to 47% and pes planus decreased from 73 to 65%. Striae increased from 2 to 84%. Prevalence of ectopia lentis remained stable, varying from 66 to 72%, similar to aortic root dilatation (varying from 75 to 80%). Aortic root dilatation remained stable during follow-up in this population receiving β-blocker therapy. When comparing Marfan syndrome children with non-Marfan syndrome children, height appeared to be a simple and discriminant criterion when it was >3.3 SD above the mean. Ectopia lentis and aortic dilatation were both similarly discriminating. Ectopia lentis and aortic dilatation are the best-discriminating features, but height remains a simple discriminating variable for general practitioners when >3.3 SD above the mean. Mean aortic dilatation remains stable in infancy when children receive a β-blocker.
Barzegar, Mohammad; Dastgiri, Saeed; Karegarmaher, Mohammad H; Varshochiani, Ali
This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit. The mean age (standard deviation) of subjects was 5.4 (3.6) years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9-2.6). The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10). The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region.
Barzegar, Mohammad; Dastgiri, Saeed; Karegarmaher, Mohammad H; Varshochiani, Ali
Background and aims This study was carried out to investigate the incidence, annual time trend and some epidemiological and clinical features of Guillain-Barre syndrome in children in the north west of Iran. Materials and methods In this population-based cross sectional research, epidemiological and clinical features of 143 cases with Guillain-Barre syndrome between 2001 and 2006 were studied. The setting of the study was Tabriz Children Medical Centre, the major University-Hospital located in Tabriz city of the East Azarbaijan province covering whole region. Data collected included age, gender, chronological information, preceding events, functional grade of motor deficit. Results The mean age (standard deviation) of subjects was 5.4 (3.6) years. The male/female ratio was 1.3. The average annual incidence rate was 2.27 per 100 000 population of 15 years children (CI95%: 1.9–2.6). The majority of cases occurred in March, July and November and the highest proportion of the syndrome was observed in winter (29 percent, P > 0.10). Conclusion The results indicated that an unexpected high incidence of Guillain-Barre syndrome has occurred in 2003 in the region. We concluded that a monitoring and surveillance system for Guillain-Barre syndrome is essential to set up in this region. PMID:17683586
Yilmaz, Sezgin; Yavuz, Mustafa; Çetinkurşun, Salih
Mirizzi syndrome is the compressive blockage of the cystic or choledochal duct caused by a biliary stone occupying the cystic canal or Hartmann's pouch. This occurrence is rare and, in English literature, three cases defined in children have been observed. In order to draw attention to this rare occurrence, we preferred a 14-year-old male patient with Mirizzi syndrome. In this case, ERCP was performed preoperatively and the diagnosis was carried out with the help of clear visualisation and identification of the tissue structures as well as the stent placed in bile duct; so we protected the patient from the possible iatrogenic injury occurring during surgery. PMID:27843664
Paterson, David S; Rivera, Keith D; Broadbelt, Kevin G; Trachtenberg, Felicia L; Belliveau, Richard A; Holm, Ingrid A; Haas, Elisabeth A; Stanley, Christina; Krous, Henry F; Kinney, Hannah C; Markianos, Kyriacos
Dysfunction of medullary serotonin (5-HT)-mediated respiratory and autonomic function is postulated to underlie the pathogenesis of the majority of sudden infant death syndrome (SIDS) cases. Several studies have reported an increased frequency of the LL genotype and L allele of the 5-HT transporter (5-HTT) gene promoter polymorphism (5-HTTLPR), which is associated with increased transcriptional activity and 5-HT transport in vitro, in SIDS cases compared with controls. These findings raise the possibility that this polymorphism contributes to or exacerbates existing medullary 5-HT dysfunction in SIDS. In this study, we tested the hypothesis that the frequency of LL genotype and L allele are higher in 179 SIDS cases compared with 139 controls of multiple ethnicities in the San Diego SIDS Dataset. We observed no significant association of genotype or allele with SIDS cases either in the total cohort or on stratification for ethnicity. These observations do not support previous findings that the L allele and/or LL genotype of the 5-HTTLPR are associated with SIDS.
Rognum, Ingvar J.; Tran, Hoa; Haas, Elisabeth A.; Hyland, Keith; Paterson, David S.; Haynes, Robin L.; Broadbelt, Kevin G.; Harty, Brian J.; Mena, Othon; Krous, Henry F.; Kinney, Hannah C.
Clinical biomarkers are urgently needed in the sudden infant death syndrome (SIDS) to identify living infants at risk because it because it occurs without occurs without clinical warning. Previously, we reported multiple serotonergic (5-HT) abnormalities in nuclei of the medulla oblongata that help mediate protective responses to homeostatic stressors. Here we test the hypothesis that 5-HT-related measures are abnormal in the cerebrospinal fluid (CSF) of SIDS infants compared to autopsy controls, as a first step towards their assessment as diagnostic biomarkers of medullary pathology. Levels of CSF 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA), the degradative products of 5-HT and dopamine, respectively, were measured by high performance liquid chromatography in 57 SIDS and 29 non-SIDS autopsy cases. Tryptophan (Trp) and tyrosine (Tyr), the substrates of 5-HT and dopamine, respectively, were also measured. There were no significant differences in 5-HIAA, Trp, HVA, or Tyr levels between the SIDS and non-SIDS groups. These data preclude use of 5-HIAA, HVA, Trp or Tyr measurements as CSF biomarkers of 5-HT medullary pathology in infants at risk. They provide, however, important information about monoaminergic measurements in human CSF at autopsy and their developmental profile in infancy that is applicable to multiple pediatric disorders beyond SIDS. PMID:24423636
Paterson, David S.; Rivera, Keith D.; Broadbelt, Kevin G.; Trachtenberg, Felicia L.; Belliveau, Richard A.; Holm, Ingrid A.; Haas, Elisabeth A.; Stanley, Christina; Krous, Henry F.; Kinney, Hannah C.; Markianos, Kyriacos
Dysfunction of medullary serotonin (5-HT)-mediated respiratory and autonomic function is postulated to underlie the pathogenesis of the majority of sudden infant death syndrome (SIDS) cases. Several studies have reported an increased frequency of the LL genotype and L allele of the 5-HT transporter (5-HTT) gene promoter polymorphism (5-HTTLPR), which is associated with increased transcriptional activity and 5-HT transport in vitro, in SIDS cases compared with controls. These findings raise the possibility that this polymorphism contributes to or exacerbates existing medullary 5-HT dysfunction in SIDS. In this study, we tested the hypothesis that the frequency of LL genotype and L allele are higher in 179 SIDS cases compared with 139 controls of multiple ethnicities in the San Diego SIDS Dataset. We observed no significant association of genotype or allele with SIDS cases either in the total cohort or on stratification for ethnicity. These observations do not support previous findings that the L allele and/or LL genotype of the 5-HTTLPR are associated with SIDS. PMID:20661167
Tehrani, F T
A mathematical model of the neonatal respiratory system has been modified and used to examine the system under various physiological conditions at different stages of maturity. The respiratory responses in hypoxia, periodic breathing and following a sign have been analyzed. The effects of different respiratory parameters on the stability of the system for normal and premature infants have been investigated. The causes of periodic breathing, apnea spells and sudden infant death syndrome for full-term and premature infants have been studied, and the results compared with the available experimental findings. The response of the infant respiratory system has been found to be highly sensitive to several parameters of the system, as indicated by the results of this study. These significant parameters are sensitivity factor of central receptors to carbon dioxide, sensitivity factor of arterial receptors to carbon dioxide, sensitivity factor of arterial receptors to oxygen, functional residual capacity of the lungs, the alveolar-arterial oxygen difference and the lungs shunt ratio. It has been shown that different parts of the respiratory controller have antagonistic effects on hypoxic periodic breathing and apnea of infancy.
Blair, R; Jacob, J P; Gardiner, E E
Three experiments were conducted to compare the incidence of Sudden Death Syndrome (SDS) in male Peterson by Arbor Acre broiler chickens fed diets with either corn or wheat as the grain type and meat meal or soybean meal as the main protein source. In the first two experiments, the broilers were raised in floor pens to 6 wk of age, and in the third experiment they were raised in battery-brooder cages to 4 wk of age. In both floor pen studies, total mortality and the incidence of SDS were significantly higher for wheat-fed birds, while SDS as a percentage of total mortality was not affected by cereal type. In the brooder study, neither total mortality nor mortality from SDS was significantly affected by cereal type. In the floor pen studies, the incidence of SDS as a percentage of the birds housed, was reduced by the inclusion of meat meal in the diet. In the brooder study, total mortality and the incidence of SDS were not affected by protein source, but SDS as a percentage of total mortality was reduced with the inclusion of meat meal in the diet.
Barrett, Karlene T; Rodikova, Ekaterina; Weese-Mayer, Debra E; Rand, Casey M; Marazita, Mary L; Cooper, Margaret E; Berry-Kravis, Elizabeth M; Bech-Hansen, N Torben; Wilson, Richard J A
Stress peptide, pituitary adenylate cyclase-activating polypeptide (PACAP), has been implicated in sudden infant death syndrome (SIDS). The aim of this exploratory study was to determine whether variants in the gene encoding the PACAP-specific receptor, PAC1, are associated with SIDS in Caucasian and African American infants. Polymerase chain reaction and Sanger DNA sequencing was used to compare variants in the 5'-untranslated region, exons and intron-exon boundaries of the PAC1 gene in 96 SIDS cases and 96 race- and gender-matched controls. The intron 3 variant, A/G: rs758995 (variant 'h'), and the intron 6 variant, C/T: rs10081254 (variant 'n'), were significantly associated with SIDS in Caucasians and African Americans, respectively (p < 0.05). Also associated with SIDS were interactions between the variants rs2302475 (variant 'i') in PAC1 and rs8192597 and rs2856966 in PACAP among Caucasians (p < 0.02) and rs2267734 (variant 'q') in PAC1 and rs1893154 in PACAP among African Americans (p < 0.01). However, none of these differences survived post hoc analysis. Overall, this study does not support a strong association between variants in the PAC1 gene and SIDS; however, a number of potential associations between race-specific variants and SIDS were identified that warrant targeted investigations in future studies. ©2013 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
Wang, Bing; Swaminathan, Sivakumar; Bhattacharyya, Madan K.
Soybean is one of the most important crops grown across the globe. In the United States, approximately 15% of the soybean yield is suppressed due to various pathogen and pests attack. Sudden death syndrome (SDS) is an emerging fungal disease caused by Fusarium virguliforme. Although growing SDS resistant soybean cultivars has been the main method of controlling this disease, SDS resistance is partial and controlled by a large number of quantitative trait loci (QTL). A proteinacious toxin, FvTox1, produced by the pathogen, causes foliar SDS. Earlier, we demonstrated that expression of an anti-FvTox1 single chain variable fragment antibody resulted in reduced foliar SDS development in transgenic soybean plants. Here, we investigated if synthetic FvTox1-interacting peptides, displayed on M13 phage particles, can be identified for enhancing foliar SDS resistance in soybean. We screened three phage-display peptide libraries and discovered four classes of M13 phage clones displaying FvTox1-interacting peptides. In vitro pull-down assays and in vivo interaction assays in yeast were conducted to confirm the interaction of FvTox1 with these four synthetic peptides and their fusion-combinations. One of these peptides was able to partially neutralize the toxic effect of FvTox1 in vitro. Possible application of the synthetic peptides in engineering SDS resistance soybean cultivars is discussed. PMID:26709700
Byard, Roger W; Lee, Vivian
The use of different definitions of sudden infant death syndrome (SIDS) may make comparison of data among studies difficult. Fifty randomly selected papers dealing with SIDS that were published between 2010 and 2011 in peer-reviewed journals were reviewed to determine whether one of three internationally accepted definitions of SIDS had been either written in the text or referenced. A significant improvement in the use of definitions has occurred since 2005, with the percentage of papers either quoting or referencing a standard definition increasing by 26%, from 42 to 68%. The 1989 NICHD definition remained the most commonly used definition (35.1%) followed by the 2004 San Diego definition (26.3%). Although the percentage of papers where either no definition was provided or where an idiosyncratic or mis-cited definition was used fell 26%, from 58 to 32%, nearly one in three papers published on SIDS in peer-reviewed journals that were included in this study still did not cite a standard definition. Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.
Patterson, T.; Rapsey, C. M.; Glue, P.
Background: There is conjecture regarding the profile of cognitive development over time in children with Down syndrome (DS). Characterising this profile would be valuable for the planning and assessment of intervention studies. Method: A systematic search of the literature from 1990 to the present was conducted to identify longitudinal data on…
Panayiotopoulos, Chrysostomos P.; Michael, Michael; Sanders, Sue; Valeta, Thalia; Koutroumanidis, Michael
A big advance in epileptology has been the recognition of syndromes with distinct aetiology, clinical and EEG features, treatment and prognosis. A prime and common example of this is rolandic epilepsy that is well known by the general paediatricians for over 50 years, thus allowing a precise diagnosis that predicts an excellent prognosis. However,…
Wright, A J; Lall, A; Gransden, W R; Joyce, M R; Rowsell, A; Clark, G
A 10-year-old boy presenting with steroid resistant nephrotic syndrome developed Fournier gangrene of the scrotum. Antimicrobial drug therapy, intravenous albumin, excision of necrotic scrotum and left orchidectomy followed by skin grafting 3 weeks later led to an excellent cosmetic and medical result. Six months later he remains nephrotic on diuretic and angiotensin converting enzyme inhibitor medication.
Bache, Manon; Dheu, Céline; Doray, Bérénice; Fothergill, Hélène; Soskin, Sylvie; Paris, Françoise; Sultan, Charles; Fischbach, Michel
The diagnosis of Frasier syndrome is based on the association of male pseudohermaphroditism (as a result of gonadal dysgenesis), with steroid-resistant nephrotic syndrome due to focal and segmental glomerular sclerosis (FSGS), which progresses to end-stage renal failure (ESRF) during adolescence or adulthood. Frasier syndrome results from mutations in the Wilms' tumour suppressor gene WT1, which is responsible for alterations in male genital development and podocyte dysfunction. We describe the case of a 7-year-old girl who was referred to the paediatric emergency department with ESRF. Haemodialysis was started immediately because of severe hypertension and hyperkalaemia. In view of the fact that our patient had a past medical history of pseudohermaphroditism, we suspected that the acute presentation in ESRF may be related to a new diagnosis of Frasier syndrome. Our hypothesis was confirmed on examination of the medical records. There had been no medical follow-up for several years and, in particular, no renal imaging or functional assessment had ever been performed. This lack of surveillance explains why our patient presented with ESRF much earlier in this disease than expected and subsequently had to undergo kidney transplantation at a very young age.
Walter, Abbe L.; Carter, Alice S.
Gilles de la Tourette's Syndrome (GTS) is considered a neuropsychiatric condition characterized by multiple motor and vocal tics. With some cases, a variety of neurocognitive, social, and emotional difficulties are present. Describes core features of GTS and highlights how symptoms and their features may interfere with school functioning. School…
Polycystic ovary syndrome (PCOS) is a prevalent hyperandrogenic infertility and cardiometabolic disorder that increases a woman's lifetime risk of type 2 diabetes mellitus. It is heritable and intensely familial. Progress toward a cure has been delayed by absence of an etiology. Evidence is mounting...
Rangel, Luiza; Garralda, M. Elena; Jeffs, Jim; Rose, Gillian
Objective: To compare family health and characteristics in children with chronic fatigue syndrome (CFS), in juvenile rheumatoid arthritis (JRA), and emotional disorders. Method: Parents of 28 children and adolescents aged 11 to 18 years with CFS, 30 with JRA, and 27 with emotional disorders (i.e., anxiety and/or depressive disorders) were…
Dimitropoulos, A.; Blackford, J.; Walden, T.; Thompson, T.
Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia and food preoccupations. Researchers indicate that individuals with PWS, including young children, exhibit food and non-food-related compulsions. Normative rituals are also often present among typically developing preschoolers. However, it is unclear how these behaviors…
Mohapatra, Sonali; Bansal, Deepak; Bhalla, A K; Verma Attri, Savita; Sachdeva, Naresh; Trehan, Amita; Marwaha, R K
Data on metabolic syndrome (MS) in survivors of childhood acute lymphoblastic leukemia (ALL) from developing countries are lacking. The purpose of this single-center, uncontrolled, observational study was to assess the frequency of MS in our survivors. The survivors of ALL ≤15 years at diagnosis, who had completed therapy ≥2 years earlier, were enrolled. Anthropometric measurements (weight, height, waist circumference), biochemistry (glucose, insulin, triglycerides, high-density lipoprotein [HDL], thyroid function tests, C-reactive protein [CRP], magnesium), measurement of blood pressure, and Tanner staging were performed. MS was defined by International Diabetes Federation (IDF) and the National Cholesterol Education Program Third Adult Treatment Panel guidelines (NCEP ATP III) criteria, modified by Cook et al. (Arch Pediatr Adolesc Med. 2003;157:821-827) and Ford et al. (Diabetes Care. 2005;28:878-881). The median age of 76 survivors was 11.9 years (interquartile range [IQR]: 9.6-13.5). Twenty-four (32%) survivors were obese or overweight. The prevalence of insulin resistance (17%), hypertension (7%), hypertriglyceridemia (20%), and low HDL (37%) was comparable to the prevalence in children/adolescents in historical population-based studies from India. The prevalence of MS ranged from 1.3% to 5.2%, as per different defining criteria. Cranial radiotherapy, age at diagnosis, sex, or socioeconomic status were not risk factors for MS. The prevalence of MS in survivors of childhood ALL, at a median duration of 3 years from completion of chemotherapy, was comparable to the reference population. The prevalence of being obese or overweight was, however, greater than historical controls.
Bui, Dinh S; Burgess, John A; Lowe, Adrian J; Perret, Jennifer L; Lodge, Caroline J; Bui, Minh; Morrison, Stephen; Thompson, Bruce R; Thomas, Paul S; Giles, Graham G; Garcia-Aymerich, Judith; Jarvis, Debbie; Abramson, Michael J; Walters, E Haydn; Matheson, Melanie C; Dharmage, Shyamali C
The burden of chronic obstructive pulmonary disease (COPD) is increasing, yet there are limited data on early life risk factors. To investigate the role of childhood lung function in adult COPD phenotypes. Prebronchodilator spirometry was performed for a cohort of 7-year-old Tasmanian children (n = 8,583) in 1968 who were resurveyed at 45 years, and a selected subsample (n = 1,389) underwent prebronchodilator and post-bronchodilator spirometry. For this analysis, COPD was spirometrically defined as a post-bronchodilator FEV 1 /FVC less than the lower limit of normal. Asthma-COPD overlap syndrome (ACOS) was defined as the coexistence of both COPD and current asthma. Associations between childhood lung function and asthma/COPD/ACOS were examined using multinomial regression. At 45 years, 959 participants had neither current asthma nor COPD (unaffected), 269 had current asthma alone, 59 had COPD alone, and 68 had ACOS. The reweighted prevalence of asthma alone was 13.5%, COPD alone 4.1%, and ACOS 2.9%. The lowest quartile of FEV 1 at 7 years was associated with ACOS (odds ratio, 2.93; 95% confidence interval, 1.32-6.52), but not COPD or asthma alone. The lowest quartile of FEV 1 /FVC ratio at 7 years was associated with ACOS (odds ratio, 16.3; 95% confidence interval, 4.7-55.9) and COPD (odds ratio, 5.76; 95% confidence interval, 1.9-17.4), but not asthma alone. Being in the lowest quartile for lung function at age 7 may have long-term consequences for the development of COPD and ACOS by middle age. Screening of lung function in school age children may identify a high-risk group that could be targeted for intervention. Further research is needed to understand possible modifiers of these associations and develop interventions for children with impaired lung function.
Polen, E; Weintraub, M; Stoffer, C; Jaffe, D H; Burger, A; Revel-Vilk, S
Although the use of central venous catheters (CVCs) has greatly improved the quality of care of children with cancer, these catheters increase the risk of deep vein thrombosis (DVT) and the potential long-term complication of post-thrombotic syndrome (PTS). We aimed to study PTS post-CVC removal using physical, functional and health related quality of life (HRQoL) domains in childhood cancer and bone marrow transplantation (BMT) survivors. We conducted a prospective study in a cohort of childhood cancer and BMT survivors post-CVC use. Participants were evaluated for PTS with the Modified Villalta Score (MVS) and the Manco-Johnson Instrument (MJI). HRQoL was assessed using the PedsQL™ questionnaire. A total of 158 children were enrolled at a median of 41 (4-149) months from CVC removal. Signs and symptoms of PTS were present in 34% (95% confidence interval [CI] 27-43%) (MVS criteria) and 30.5% (95% CI 23.1-37.8%) (MJI criteria). Diagnosis of PTS was associated with history of CVC occlusion, history of CVC-related DVT and the use of ≥2 CVCs. The presence of signs and symptoms of PTS was a predictor for low HRQoL tested by the PedsQL™ Total Scale scores and Physical Health Summary scores. PTS post-CVC removal in pediatric cancer survivors is not a rare event. The association between PTS and the history of CVC occlusion confirms earlier findings, and suggests that CVC occlusion may indicate asymptomatic DVT. PTS is also associated with lower HRQoL scores highlighting the need to study preventive measures, especially for high risk groups. Pediatr Blood Cancer 2015;62:285-290. © 2014 Wiley Periodicals, Inc. © 2014 Wiley Periodicals, Inc.
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
Ramalho, Diogo; Freitas, João
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.
Lada, Christina; Skiadas, Konstantinos; Theodorou, Virginia; Loli, Nomiki; Covanis, Athanasios
To determine prevalence, clinical, EEG features, and prognosis of Panayiotopoulos syndrome and to examine the proposition that clinical manifestations are more important than EEG findings. We analyzed retrospectively the clinical and EEG records of 1,340 children with one or more focal seizures seen in the last 18 years, supplemented with a prospective study from 1998. Panayiotopoulos syndrome was defined by clinical criteria, mainly ictal emesis, irrespective of EEG findings. We analyzed 43 of 90 patients with Panayiotopoulos syndrome who were seizure free >2 years. Girls predominated. Mean age at first seizure was 5 years. Seizures consisted mainly of autonomic manifestations; ictal emesis was often the first symptom, culminating in vomiting in 86%. Of nonautonomic manifestations, lateral eye deviation was the most common; visual symptoms were exceptional. Impairment of consciousness ensued in all seizures, half of which ended with hemi or generalized convulsions. Nearly 46.5% of cases had at least one seizure >30 min, constituting autonomic status epilepticus. Seizures during sleep (84%) were more common than those in wakefulness. EEG showed occipital spikes in 29 patients. Of the other 14 cases, five had extraoccipital abnormalities or brief generalized discharges, and nine had normal awake and sleep EEG. Prognosis was excellent. All 43 children have been free of seizures for > or =2 years, 53% having a single seizure, and 47%, an average two to three seizures. Panayiotopoulos syndrome is common and needs wider recognition. EEG shows occipital or extraoccipital abnormalities, is normal in one third of patients, and does not determine clinical manifestations or prognosis, which is excellent despite the high prevalence of lengthy seizures.
Neubauer, Jacqueline; Lecca, Maria Rita; Russo, Giancarlo; Bartsch, Christine; Medeiros-Domingo, Argelia; Berger, Wolfgang; Haas, Cordula
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.
Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances
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…
Swaminathan, Sivakumar; Abeysekara, Nilwala S; Knight, Joshua M; Liu, Min; Dong, Jia; Hudson, Matthew E; Bhattacharyya, Madan K; Cianzio, Silvia R
Novel QTL conferring resistance to both the SDS and SCN was detected in two RIL populations. Dual resistant RILs could be used in breeding programs for developing resistant soybean cultivars. Soybean cultivars, susceptible to the fungus Fusarium virguliforme, which causes sudden death syndrome (SDS), and to the soybean cyst nematode (SCN) (Heterodera glycines), suffer yield losses valued over a billion dollars annually. Both pathogens may occur in the same production fields. Planting of cultivars genetically resistant to both pathogens is considered one of the most effective means to control the two pathogens. The objective of the study was to map quantitative trait loci (QTL) underlying SDS and SCN resistances. Two recombinant inbred line (RIL) populations were developed by crossing 'A95-684043', a high-yielding maturity group (MG) II line resistant to SCN, with 'LS94-3207' and 'LS98-0582' of MG IV, resistant to both F. virguliforme and SCN. Two hundred F 7 derived recombinant inbred lines from each population AX19286 (A95-684043 × LS94-3207) and AX19287 (A95-684043 × LS98-0582) were screened for resistance to each pathogen under greenhouse conditions. Five hundred and eighty and 371 SNP markers were used for mapping resistance QTL in each population. In AX19286, one novel SCN resistance QTL was mapped to chromosome 8. In AX19287, one novel SDS resistance QTL was mapped to chromosome 17 and one novel SCN resistance QTL was mapped to chromosome 11. Previously identified additional SDS and SCN resistance QTL were also detected in the study. Lines possessing superior resistance to both pathogens were also identified and could be used as germplasm sources for breeding SDS- and SCN-resistant soybean cultivars.
Litchfield, Ian J; Ayres, Jon G; Jaakkola, Jouni J K; Mohammed, Nuredin I
Air pollution has been associated with increased mortality and morbidity in several studies with indications that its effect could be more severe in children. This study examined the relationship between short-term variations in criteria air pollutants and occurrence of sudden infant death syndrome (SIDS). We used a case-crossover study design which is widely applied in air pollution studies and particularly useful for estimating the risk of a rare acute outcome associated with short-term exposure. The study used data from the West Midlands region in the UK. We obtained daily time series data on SIDS mortality (ICD-9: 798.0 or ICD-10: R95) for the period 1996-2006 with a total of 211 SIDS events. Daily counts of SIDS events. For an IQR increase in previous day pollutant concentration, the percentage increases (95% CI) in SIDS were 16 (6 to 27) for PM 10 , 1 (-7 to 10) for SO 2 , 5 (-4 to 14) for CO, -17 (-27 to -6) for O 3 , 16 (2 to 31) for NO 2 and 2 (-3 to 8) for NO after controlling for average temperature and national holidays. PM 10 and NO 2 showed relatively consistent association which persisted across different lag structures and after adjusting for copollutants. The results indicated ambient air pollutants, particularly PM 10 and NO 2 , may show an association with increased SIDS mortality. Thus, future studies are recommended to understand possible mechanistic explanations on the role of air pollution on SIDS incidence and the ways in which we might reduce pollution exposure among infants. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Ayres, Jon G; Mohammed, Nuredin I
Objectives Air pollution has been associated with increased mortality and morbidity in several studies with indications that its effect could be more severe in children. This study examined the relationship between short-term variations in criteria air pollutants and occurrence of sudden infant death syndrome (SIDS). Design We used a case-crossover study design which is widely applied in air pollution studies and particularly useful for estimating the risk of a rare acute outcome associated with short-term exposure. Setting The study used data from the West Midlands region in the UK. Participants We obtained daily time series data on SIDS mortality (ICD-9: 798.0 or ICD-10: R95) for the period 1996–2006 with a total of 211 SIDS events. Primary outcome measures Daily counts of SIDS events. Results For an IQR increase in previous day pollutant concentration, the percentage increases (95% CI) in SIDS were 16 (6 to 27) for PM10, 1 (−7 to 10) for SO2, 5 (−4 to 14) for CO, −17 (−27 to –6) for O3, 16 (2 to 31) for NO2 and 2 (−3 to 8) for NO after controlling for average temperature and national holidays. PM10 and NO2 showed relatively consistent association which persisted across different lag structures and after adjusting for copollutants. Conclusions The results indicated ambient air pollutants, particularly PM10 and NO2, may show an association with increased SIDS mortality. Thus, future studies are recommended to understand possible mechanistic explanations on the role of air pollution on SIDS incidence and the ways in which we might reduce pollution exposure among infants. PMID:29654005
Westphal, Andreas; Li, Chunge; Xing, Lijuan; McKay, Alan; Malvick, Dean
Background Sudden death syndrome (SDS) of soybean caused by Fusarium virguliforme spreads and reduces soybean yields through the North Central region of the U.S. The fungal pathogen and Heterodera glycines are difficult to manage. Methodology/Principal Findings The objective was to determine the contributions of H. glycines and F. virguliforme to SDS severity and effects on soybean yield. To quantify DNA of F. virguliforme in soybean roots and soil, a specific real time qPCR assay was developed. The assay was used on materials from soybean field microplots that contained in a four-factor factorial-design: (i) untreated or methyl bromide-fumigated; (ii) non-infested or infested with F. virguliforme; (iii) non-infested or infested with H. glycines; (iv) natural precipitation or additional weekly watering. In years 2 and 3 of the trial, soil and watering treatments were maintained. Roots of soybean ‘Williams 82’ were collected for necrosis ratings at the full seed growth stage R6. Foliar symptoms of SDS (area under the disease progress curve, AUDPC), root necrosis, and seed yield parameters were related to population densities of H. glycines and the relative DNA concentrations of F. virguliforme in the roots and soil. The specific and sensitive real time qPCR was used. Data from microplots were introduced into models of AUDPC, root necrosis, and seed yield parameters with the frequency of H. glycines and F. virguliforme, and among each other. The models confirmed the close interrelationship of H. glycines with the development of SDS, and allowed for predictions of disease risk based on populations of these two pathogens in soil. Conclusions/Significance The results modeled the synergistic interaction between H. glycines and F. virguliforme quantitatively in previously infested field plots and explained previous findings of their interaction. Under these conditions, F. virguliforme was mildly aggressive and depended on infection of H. glycines to cause highly
Uzunova, Genoveva; Hollander, Eric; Shepherd, Jason
Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS.
Uzunova, Genoveva; Hollander, Eric; Shepherd, Jason
Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are relatively common childhood neurodevelopmental disorders with increasing incidence in recent years. They are currently accepted as disorders of the synapse with alterations in different forms of synaptic communication and neuronal network connectivity. The major excitatory neurotransmitter system in brain, the glutamatergic system, is implicated in learning and memory, synaptic plasticity, neuronal development. While much attention is attributed to the role of metabotropic glutamate receptors in ASD and FXS, studies indicate that the ionotropic glutamate receptors (iGluRs) and their regulatory proteins are also altered in several brain regions. Role of iGluRs in the neurobiology of ASD and FXS is supported by a weight of evidence that ranges from human genetics to in vitro cultured neurons. In this review we will discuss clinical, molecular, cellular and functional changes in NMDA, AMPA and kainate receptors and the synaptic proteins that regulate them in the context of ASD and FXS. We will also discuss the significance for the development of translational biomarkers and treatments for the core symptoms of ASD and FXS. PMID:24533017
Gulewitsch, Marco Daniel; Müller, Judith; Hautzinger, Martin; Schlarb, Angelika Anita
Functional abdominal pain and irritable bowel syndrome are two prevalent disorders in childhood which are associated with recurrent or chronic abdominal pain, disabilities in daily functioning, and reduced quality of life. This study aimed to evaluate a brief hypnotherapeutic-behavioral intervention program in a prospective randomized controlled design. Thirty-eight children, 6 to 12 years of age, and their parents were randomly assigned to a standardized hypnotherapeutic-behavioral treatment (n = 20) or to a waiting list condition (n = 18). Both groups were reassessed 3 months after beginning. Primary outcome variables were child-completed pain measures and pain-related disability. Secondary outcome variables were parent-completed measures of their children's pain and pain-related disability. Health-related quality of life from both perspectives also served as a secondary outcome. In the treatment group, 11 of 20 children (55.0%) showed clinical remission (>80% improvement), whereas only one child (5.6%) in the waiting list condition was classified as responder. Children in the treatment group reported a significantly greater reduction of pain scores and pain-related disability than children of the waiting list condition. Parental ratings also showed a greater reduction of children's abdominal pain and pain-related disability. Health-related quality of life did not increase significantly. Hypnotherapeutic and behavioral interventions are effective in treating children with long-standing AP. Treatment success of this brief program should be further evaluated against active interventions with a longer follow-up.
Dauger, S; Le Bourgeois, F; Guichoux, J; Brissaud, O
Acute respiratory distress syndrome (ARDS) is a rapidly progressive hypoxemic respiratory insufficiency induced by alveolar filling mainly caused by alveolocapillary wall disruption, following direct or indirect pulmonary injury. Much less frequent in children than in adults, pediatric intensivists had long applied adult guidelines to their daily practice. In 2015, experts from the Pediatric Acute Lung Injury Consensus Conference (PALICC) published the first international guidelines specifically dedicated to pediatric ARDS. After a short summary of the history of the ARDS definition since its first report in 1967, we describe the main diagnostic and therapeutic guidelines for PALICC. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
Namazi Shabestari, Alireza; Saeedi Moghaddam, Sahar; Sharifi, Farshad; Fadayevatan, Reza; Nabavizadeh, Fatemeh; Delavari, Alireza; Jamshidi, Hamid Reza; Naderimagham, Shohreh
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
Lopez-Esteban, Pilar; Gallego, Isabel; Gil-Ferrer, Victoria
INTRODUCTION. The Guillan-Barre syndrome is the most frequent case of acute flacid paralysis in children. The diagnostic criteria differ according to the demyelinating or axonal variant and the prevalence by geographical area. The electro-myographic study permits identifying variants, evaluating the prognosis and predicting the evolution, is in addition an objective tool for the monitoring. AIM. To describe the electromyographic characteristics of the Guillain-Barre syndrome evaluated in hospital and its classification by physiopathological pattern. PATIENTS AND METHODS. All the cases diagnosed between 2005 and 2012 are included. Studies of motor and sensitive nervous conduction and F waves in 14 girls and 11 boys between 1 and 13 years of age. RESULTS. 19 cases of acute inflammatory demyelinating polyneuropathy (AIDP) and five of acute motor axonal neuropathy (AMAN) were diagnosed. The electromyogram was performed between 1 and 30 days after the beginning of symptoms. In AIDP cases, multifocal demyelination, four of them with the preserved sural and 13 with alteration and absence of F wave were objectified. In the cases of AMAN, four had low amplitude potential and in one of them they were not evoked. CONCLUSIONS. The demyelinating form of the illness is the most frequent although the high number of AMAN cases stands out, probably related to the population object of study. The evolution was favorable in three cases of motor axonal neuropathy and in 15 accute demyelinating polyneuropathy. In four cases the symptoms became chronic; three of them with persistent demyelination a similar occurrence in other studies with children.
... Although health care professionals don't know what causes SIDS, they do know ways to reduce the risk. These include Placing your baby on his or her back to sleep, even for short naps. "Tummy time" is for ...
Juonala, Markus; Singh, Gurmeet R; Davison, Belinda; van Schilfgaarde, Katherine; Skilton, Michael R; Sabin, Matthew A; Cheung, Michael; Sayers, Susan; Burgner, David P
We evaluated whether atherosclerotic changes associated with MetS in Australian Aboriginals are reversible in childhood. In addition, we investigated whether heightened inflammation is mediating the adverse effects of MetS. The study cohort comprised of 351 children from the Aboriginal Birth Cohort Study (a longitudinal study based in the Northern Territory of Australia) aged 9-13 years at baseline examination who were followed up 6 years later. MetS was defined by at least three of the following parameters within the extreme sex- and age-specific quartile: highest quartile for waist circumference, blood pressure, triglycerides, and glucose, and lowest quartile for HDL-cholesterol. Carotid intima-media thickness (IMT) and C-reactive protein (CRP) were assessed at follow-up. Individuals with MetS at baseline or follow-up had increased carotid IMT at follow-up (mean ± SEM 539 ± 3 vs. 561 ± 8 μm, P=0.007; and 537 ± 3 vs. 567 ± 8 μm, P<0.0001 respectively). In combined analyses from baseline and follow-up studies, those individuals with MetS only at baseline had partially improved vascular status; their IMT was not significantly increased compared to those without MetS at both time-points (534 ± 3 vs. 550 ± 10 μm, P=0.09). At the follow-up examination, MetS status was associated with increased IMT levels only among individuals with CRP levels above the median (≥ 2.1mg/l) (536 ± 5 vs. 573 ± 9 μm, P<0.0001, P for interaction 0.01). MetS in childhood is associated with subclinical atherosclerosis in an Australian Aboriginal population and the effects appear to be mediated by increased inflammation. The extent of atherosclerosis was partially reduced if metabolic status improved during the follow-up. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Louie, Janice K; Hsu, Ling Chin; Osmond, Dennis H; Katz, Mitchell H; Schwarcz, Sandra K
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.
Gregorio, G V; Portmann, B; Karani, J; Harrison, P; Donaldson, P T; Vergani, D; Mieli-Vergani, G
To investigate whether sclerosing cholangitis with an autoimmune serology characteristic of autoimmune hepatitis (AIH) and AIH are distinct entities, we studied 55 consecutive children with clinical and/or biochemical evidence of liver disease and circulating antinuclear (ANA), anti-smooth muscle (SMA), and/or liver-kidney-microsomal type 1 (LKM1) autoantibodies. They underwent liver biopsy, direct cholangiography, sigmoidoscopy, and rectal biopsy at presentation. Twenty-eight were diagnosed as AIH in the absence and 27 autoimmune sclerosing cholangitis (ASC) in the presence of radiological features of cholangiopathy. Twenty-six ASC and 20 AIH had ANA and/or SMA; 1 ASC and 8 AIH LKM1 autoantibody. Similarities between the 2 conditions included most clinical and biochemical parameters and a lower frequency of HLA DR4. Inflammatory bowel disease and histological biliary changes were more common in ASC; coagulopathy, hypoalbuminemia, lymphocytic periportal hepatitis, and HLA DR3 were more common in AIH. Histological biliary changes were observed in 65% of ASC and 31% of AIH patients. Eighty-nine percent responded to immunosuppression. Follow-up liver biopsies from 17 ASC and 18 AIH patients had similarly reduced inflammatory activity and no progression to cirrhosis. Sixteen follow-up cholangiograms from AIH patients and 9 from ASC patients were unchanged, while 8 ASC patients showed a progressive cholangiopathy. One child with AIH and ulcerative colitis developed sclerosing cholangitis 8 years after presentation. At 2 to 16 years (median, 7 years) from presentation, all patients are alive, including 4 ASC patients who underwent liver transplantation. In conclusion, ASC and AIH are similarly prevalent in childhood; cholangiography is often needed to distinguish between these 2 entities, which are likely to lie within the same disease process.
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
Howard, Rick; Huband, Nick; Duggan, Conor
This study tested the hypothesis that adult antisocial syndrome co-concurrent with borderline personality disorder (AAS + BPD) would be associated with greater conduct disorder (CD) severity than AAS alone. Sixty-nine personality disordered individuals exhibited a sufficient number of adult antisocial traits to meet DSM-IV criterion A for antisocial personality disorder (AsPD). These were subdivided into those who did (AAS + BPD) or did not (AAS alone) meet DSM-IV criteria for a BPD diagnosis. We then compared the 2 groups on CD symptoms and historical, clinical, and self-report measures. The mean number of CD criteria met and the total number of individual CD symptoms were significantly greater in the AAS + BPD group compared with the AAS alone group. The former also were more likely to be female, to have self-harmed, to show greater personality disorder comorbidity, and to self-report greater anger. The functional link between CD and adult antisocial symptoms appears to be mediated, or at least moderated, by co-occurring borderline pathology.
Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Pananá, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L; Perez-Vera, P; Alvarado-Ibarra, M; Salamanca-Gómez, F; Fajardo-Gutierrez, A; Mejía-Aranguré, J M
For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children < or = 6 and >6 years old. Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43-1.61), 1.70 (0.82-3.52); and 3.57 (1.59-8.05), respectively. A similar result was obtained when only ALL was analysed. We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL.
Flores-Lujano, J; Perez-Saldivar, M L; Fuentes-Pananá, E M; Gorodezky, C; Bernaldez-Rios, R; Del Campo-Martinez, M A; Martinez-Avalos, A; Medina-Sanson, A; Paredes-Aguilera, R; De Diego-Flores Chapa, J; Bolea-Murga, V; Rodriguez-Zepeda, M C; Rivera-Luna, R; Palomo-Colli, M A; Romero-Guzman, L; Perez-Vera, P; Alvarado-Ibarra, M; Salamanca-Gómez, F; Fajardo-Gutierrez, A; Mejía-Aranguré, J M
Background: For a child to develop acute leukaemia (AL), environmental exposure may not be sufficient: interaction with a susceptibility factor to the disease, such as Down syndrome (DS), may also be necessary. We assessed whether breastfeeding and early infection were associated with the risk of developing AL in children with DS. Methods: Children with DS in Mexico City, and either with or without AL, were the cases (N=57) and controls (N=218), respectively. Population was divided in children with AL and with acute lymphoblastic leukaemia (ALL) and also in children ⩽6 and >6 years old. Results: Breastfeeding and early infections showed moderate (but not significant) association for AL, whereas hospitalisation by infection during the first year of life increased the risk: odds ratios (confidence interval 95%) were 0.84 (0.43–1.61), 1.70 (0.82–3.52); and 3.57 (1.59–8.05), respectively. A similar result was obtained when only ALL was analysed. Conclusion: We found that breastfeeding was a protective factor for developing AL and ALL, and during the first year of life, infections requiring hospitalisation were related to a risk for developing the disease in those children with DS >6 years of age. These data do not support the Greaves's hypothesis of early infection being protective for developing ALL. PMID:19707206
Dimitropoulos, A; Blackford, J; Walden, T; Thompson, T
Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia and food preoccupations. Researchers indicate that individuals with PWS, including young children, exhibit food and non-food-related compulsions. Normative rituals are also often present among typically developing preschoolers. However, it is unclear how these behaviors affect the child. Although preschoolers with PWS exhibit more types of rituals than other populations, it is uncertain if the severity of these behaviors differs from the rituals experienced during normative development. Thus, the purpose of this research was to determine whether the ritualistic behaviors exhibited by preschoolers with PWS differ in severity from those exhibited during normative development. We also sought to identify whether non-food ritualistic behavior was related to the hyperphagia in PWS. Parents of 68 children with PWS, 86 typically developing children, and 57 children with developmental delays completed questionnaires on rituals and eating behavior. Children with PWS exhibited more severe ritualistic behavior than typically developing children but not other children with developmental delays. However, the severity of non-food-related rituals was related to the severity of eating behavior in PWS. We hypothesize that this link between hyperphagia and non-food-related compulsivity may share a common underlying neurobiological mechanism.
Kureshi, Suraiya A; Gallagher, Paul R; McDonough, Joseph M; Cornaglia, Mary Anne; Maggs, Jill; Samuel, John; Traylor, Joel; Marcus, Carole L
Alternative therapies for childhood obstructive sleep apnea syndrome (OSAS) are needed as OSAS may persist despite adenotonsillectomy, and continuous positive airway pressure (CPAP) adherence is low. Nasal expiratory positive airway pressure (NEPAP) devices have not been studied in children. We hypothesized that NEPAP would result in polysomnographic improvement. Further, we aimed to determine NEPAP adherence, effects on sleepiness, behavior, and quality of life. A randomized, double-blind, placebo-controlled, crossover pilot study was performed. CPAP candidates, 8-16 years old, underwent NEPAP and placebo polysomnograms. Subjects with ≥ 50% reduction in the apnea hypopnea index (AHI) from placebo to NEPAP night or AHI < 5/h on NEPAP night wore NEPAP at home for 30 days. Adherence was assessed by daily phone calls/emails and collecting used devices. Fourteen subjects (age 13.4 ± 1.9 years, BMI z-scores 2.2 ± 1 [mean ± SD]) were studied. There was significant improvement in the obstructive apnea index with NEPAP vs. placebo: 0.6 (0-21.1)/h vs. 4.2 (0-41.9)/h (median [range], p = 0.010) and trends for improvement in other polysomnographic parameters. However, responses were variable, with 3 subjects not improving and 2 worsening. Older children and those with less hypercapnia had a better response. Eight subjects were sent home with devices; one was lost to follow-up, and adherence in the remainder was 83% of nights; these subjects had a significant improvement in sleepiness and quality of life. NEPAP devices are a potential alternative therapy for OSAS in a small subset of children. Due to variability in individual responses, efficacy of NEPAP should be evaluated with polysomnography. www.clinicaltrials.gov, identifier: NCT01768065.
Gendelman, Samantha; Zeft, Andrew; Spalding, Steven J
To date only 38 cases of childhood-onset eosinophilic granulomatosis with polyangiitis (cEGPA; formerly Churg-Strauss syndrome) have been reported. Additional patients with cEGPA could enhance the understanding of this rare and life-threatening condition. Our objectives were (1) to determine the frequency of specific organ system involvement; (2) to examine initial therapeutic regimen; and (3) to document disease and therapy-related morbidity in a contemporary cohort of patients with cEGPA. Retrospective review of patients evaluated at the Cleveland Clinic between 2003 and 2011 who met either American College of Rheumatology or Lanham criteria for EGPA and whose age was < 18 years at symptom onset. Nine patients (8 female; 7 white) were identified. Median age at onset of rhinitis/asthma symptom was 13 years and median age at diagnosis of cEGPA was 15 years. All patients demonstrated eosinophilia, upper airway disease (allergic rhinitis, chronic sinusitis, and/or nasal polyps), and pulmonary involvement. Other frequently involved organ systems included musculoskeletal (67%), gastrointestinal (67%), cutaneous (67%), neurologic (56%), and cardiac (44%). Antineutrophil cytoplasmic antibody (ANCA) serologies were negative in all patients. The medications used most frequently for initial therapy included oral (44%) or intravenous corticosteroids (56%) and azathioprine (67%). Disease or therapeutic complications occurred in half of the cohort and included heart failure, stroke, and sequela from longterm, high-dose steroids. Eosinophilia, in combination with upper airway, pulmonary, musculoskeletal, neurologic, and cardiac manifestations, is frequently observed in cEGPA. ANCA titers are often negative. Steroids are the mainstay of initial therapy but steroid-related side effects occur regularly.
Samango-Sprouse, Carole; Lawson, Patrick; Sprouse, Courtney; Stapleton, Emily; Sadeghin, Teresa; Gropman, Andrea
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6-year-old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI-III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicated severe visual motor deficits: VMI = 51; Visual Perception = 48; Motor Coordination < 45. On the Receptive One Word Picture Vocabulary Test-R (ROWPVT-R), she had standard scores of 96 and 99 in contrast to an Expressive One Word Picture Vocabulary-R (EOWPVT-R) standard scores of 73 and 82, revealing a discrepancy in vocabulary domains on both evaluations. Preschool Language Scale-4 (PLS-4) on PQ's first evaluation reveals a significant difference between auditory comprehension and expressive communication with standard scores of 78 and 57, respectively, further supporting the presence of CAS. This patient's near normal intelligence expands the phenotypic profile as well as the prognosis associated with KS. The identification of CAS in this patient provides a novel explanation for the previously reported speech delay and expressive language disorder. Further research is warranted on the impact of CAS on intelligence and behavioral outcome in KS. Therapeutic and prognostic implications are discussed. © 2016 Wiley Periodicals, Inc.
Revel-Vilk, Shoshana; Menahem, Motti; Stoffer, Chanie; Weintraub, Michael
A potential long-term complication of central venous catheter (CVC)-related deep vein thrombosis (DVT), both symptomatic and asymptomatic, is development of post-thrombotic syndrome (PTS) characterized by persistent pain, swelling, and skin changes. Signs and symptoms of PTS were reported after CVC removal. The aim of this study was to assess the risk factors for development of PTS in childhood cancer survivors. Children followed at the after cancer follow-up clinic were enrolled. The patients were screened for PTS using Kuhle's PTS pediatric score. Patient's records were retrospectively reviewed for clinical and CVC-related data. Fifty-one children were enrolled at a median of 2.3 (range 0.33-7.5) years after removal of their CVC. The median age of the children the time of treatment was 6.5 (range 0.25-18) years. Mild PTS was present in 20 children (39%, 95% CI 26-54%). Pain symptoms were reported in five children (9.5%, 95% CI 3.3-21.4%). Higher rate of PTS was found in children with history of CVC occlusion. The odd ratio (95% CI) for PTS in children with history of occlusion was 3.7 (95% CI 1.1-12.5%) (P = 0.029). The occurrence of PTS was not associated with age at the time of treatment, time from CVC removal, duration of CVC, and history of infection. Screening cancer survivors for PTS after CVC removal should be integrated to the after cancer follow-up clinic. Obstruction of CVC may indicate for asymptomatic DVT. Whether thromboprophylaxis and/or prevention of CVC occlusion can decrease the rate of PTS needs to be studied.
Grazioli, I; Melzi, G; Balsamo, V; Castellucci, G; Castro, M; Catassi, C; Rätsch, J M; Scotta, S
Irritable bowel syndrome (IBS) is recognized to be a common cause of chronic diarrhea without failure to thrive in childhood. Several studies stressed the role of food intolerance as a major factor in the pathogenesis of IBS. The aim of this multicenter study was to investigate the offending role of food in IBS and to compare the therapeutic role of oral sodium cromoglycate versus elimination diet. 153 patients (mean age 4 years) with diarrhea (> 3 stools per day for four days in a week) and abdominal pain for about 10 months were enrolled in this trial. About half of the patients had a family history positive for atopy and 70% of the cases complained of intestinal symptoms after food ingestion. In 17% of the patients Skin Prick test (SPT) resulted positive to at least one food allergen and 87% of positive reactions to SPT was provoked by common foodstuffs. 87% of patients treated with elimination diet (rice, lamb, turkey, lettuce, carrots, sweet potatoes, pears, oil, tea, salt, mineral water, brown sugar) and 97% of patients treated with SCG (mean 63 mg/kg/day) for one month showed a significant improvement of intestinal symptoms. An elimination diet for several weeks can produce, beside a bad compliance (23% of patients admitted to our study didn't strictly follow diet regimen) also a nutritional deprivation. The results of this trial suggest that it's correct to investigate the role of food in children with diarrhea not due to organic diseases and diagnosed such as IBS and to use oral SCG to obtain the improvement of these symptoms.
Martino, F; Pannarale, G; Puddu, P E; Colantoni, C; Zanoni, C; Martino, E; Torromeo, C; Paravati, V; Perla, F M; Barillà, F
To investigate whether a group of Italian children and adolescents who were diagnosed to have metabolic syndrome (MS) according to a new ethnic age and gender specific definition had, in comparison with a control group, other signs and metabolic risk factors which are commonly associated with MS. The cross-sectional study population included 300 subjects (51% boys, age range 6-14 years), who were divided into 2 groups according to the presence of MS, diagnosed on the basis of 3/5 factors derived from the age and gender specific quantile distribution of MS components in a large regional Italian population survey (Calabrian Sierras Community Study, CSCS). In all subjects the following data were collected: anthropometric measures, blood pressure, liver function, C-reactive protein (hsCRP), uric acid blood levels, lipid and glucose profile. Triglycerides/HDL-cholesterol (TG/HDL-C) ratio was calculated. There were 38 subjects (13%) with MS, who had higher indices of growth and fat distribution and higher blood levels of uric acid, alanine aminotransferase and gamma-glutamyltransferase. TG/HDL ratio was higher (median 3.11 vs. 1.14, p = 0.00001) in MS subjects who had lower apolipoprotein A and higher apolipoprotein B and non-HDL-C levels. hsCRP was not different between groups. Our ethnic age and gender specific definition of MS in Italian children and adolescents was able to identify in a youth group different cardiometabolic risk factors related to insulin resistance, endothelial damage and nonalcoholic fatty liver disease, which are commonly associated with MS diagnosis.
Sibley, Matthew; Roshan, Abishek; Alshami, Alanoud; Catapang, Marisa; Jöbsis, Jasper J; Kwok, Trevor; Polderman, Nonnie; Sibley, Jennifer; Matsell, Douglas G; Mammen, Cherry
Historically, children with nephrotic syndrome (NS) across British Columbia (BC), Canada have been cared for without formal standardization of induction prednisone dosing. We hypothesized that local historical practice variation in induction dosing was wide and that children treated with lower doses had worse relapsing outcomes. This retrospective cohort study included 92 NS patients from BC Children's Hospital (1990-2010). We excluded secondary causes of NS, age < 1 year at diagnosis, steroid resistance, and incomplete induction due to early relapse. We explored cumulative induction dose and defined dosing quartiles. Relapsing outcomes above and below each quartile threshold were compared including total relapses in 2 years, time to first relapse, and proportions developing frequently relapsing NS (FRNS) or starting a steroid-sparing agent (SSA). Cumulative prednisone was widely distributed with approximated median, 1st, and 3rd quartile doses of 2500, 2000, and 3000 mg/m 2 respectively. Doses ≤ 2000 mg/m 2 showed significantly higher relapses (4.2 vs 2.7), shorter time to first relapse (61 vs 175 days), and higher SSA use (36 vs 14%) compared to higher doses. Doses ≤ 2500 mg/m 2 also showed significantly more relapses (3.9 vs 2.2), quicker first relapse (79 vs 208 days), and higher FRNS (37 vs 17%) and SSA use (28 vs 11%). Relapsing outcomes lacked statistical difference in ≤ 3000 vs > 3000 mg/m 2 doses. Results strongly justify our development of a standardized, province-wide NS clinical pathway to reduce practice variation and minimize under-treatment. The lowest induction prednisone dosing threshold to minimize future relapsing risks is likely between 2000 and 2500 mg/m 2 . Further prospective studies are warranted.
Frøen, J F; Akre, H; Stray-Pedersen, B; Saugstad, O D
Maternal cigarette smoking is established as a major dose-dependent risk factor for sudden infant death syndrome (SIDS). Both prenatal and postnatal exposures to constituents of tobacco smoke are associated with SIDS, but no mechanism of death attributable to nicotine has been found. Breastfeeding gives a substantial increase in absorbed nicotine compared with only environmental tobacco smoke when the mother smokes, because the milk:plasma concentration ratio of nicotine is 2.9 in smoking mothers. Furthermore, many SIDS victims have a slight infection and a triggered immune system before their death, thus experiencing a release of cytokines like interleukin-1beta (IL-1beta) that may depress respiration. Because apneas in infancy are associated with SIDS, we have tested the hypothesis that postnatal exposure to tobacco constituents and infections might adversely affect an infant's ability to cope with an apneic episode. This is performed by investigating the acute effects of nicotine and IL-1beta on apnea by laryngeal reflex stimulation and on the subsequent autoresuscitation. Thirty 1-week-old piglets (+/-1 day) were sedated with azaperone. A tracheal and an arterial catheter were inserted during a short halothane anesthesia. The piglets were allowed a 30-minute stabilization period before baseline values were recorded and they were randomized to 4 pretreatment groups (avoiding siblings in the same group): 1) immediate infusion of 10 pmol IL-1beta intravenously/kg (IL-1beta group; n = 8); 2) slow infusion of 5 microg nicotine intravenously/kg 5 minutes later (NIC group; n = 8); 3) both IL-1beta and NIC combined (NIC + IL-1beta group; n = 6); or 4) placebo by infusion of 1 ml .9% NaCl (CTR group; n = 8). Fifteen minutes later, apnea was induced by insufflation of .1 ml of acidified saline (pH = 2) in the subglottic space 5 times with 5-minute intervals, and variables of respiration, heart rate, blood pressure, and blood gases were recorded. Stimulation of the
Sudden Cardiac Death in Women With Suspected Ischemic Heart Disease, Preserved Ejection Fraction, and No Obstructive Coronary Artery Disease: A Report From the Women's Ischemia Syndrome Evaluation Study.
Mehta, Puja K; Johnson, B Delia; Kenkre, Tanya S; Eteiba, Wafia; Sharaf, Barry; Pepine, Carl J; Reis, Steven E; Rogers, William J; Kelsey, Sheryl F; Thompson, Diane V; Bittner, Vera; Sopko, George; Shaw, Leslee J; Bairey Merz, C Noel
Sudden cardiac death (SCD) is often the first presentation of ischemic heart disease; however, there is limited information on SCD among women with and without obstructive coronary artery disease (CAD). We evaluated SCD incidence in the WISE (Women's Ischemia Syndrome Evaluation) study. Overall, 904 women with suspected ischemic heart disease with preserved ejection fraction and core laboratory coronary angiography were followed for outcomes. In case of death, a death certificate and/or a physician or family narrative of the circumstances of death was obtained. A clinical events committee rated all deaths as cardiovascular or noncardiovascular and as SCD or non-SCD. In total, 96 women (11%) died over a median of 6 years (maximum: 8 years). Among 65 cardiovascular deaths, 42% were SCD. Mortality per 1000 person-hours increased linearly with CAD severity (no CAD: 5.8; minimal: 15.9; obstructive: 38.6; P <0.0001). However, the proportion of SCD was similar across CAD severity: 40%, 58%, and 38% for no, minimal, and obstructive CAD subgroups, respectively ( P value not significant). In addition to traditional risk factors (age, diabetes mellitus, smoking), a history of depression ( P =0.018) and longer corrected QT interval ( P =0.023) were independent SCD predictors in the entire cohort. Corrected QT interval was an independent predictor of SCD in women without obstructive CAD ( P =0.033). SCD contributes substantially to mortality in women with and without obstructive CAD. Corrected QT interval is the single independent SCD risk factor in women without obstructive CAD. In addition to management of traditional risk factors, these data indicate that further investigation should address mechanistic understanding and interventions targeting depression and corrected QT interval in women. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
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
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
Maggiore, G; Riva, S; Sciveres, M
Autoimmune liver diseases in childhood includes Autoimmune Hepatitis (AIH) and Primary (Autoimmune) Sclerosing Cholangitis (P(A)SC). Both diseases are characterized by a chronic, immune-mediated liver inflammation involving mainly hepatocytes in AIH and bile ducts in PSC. Both diseases, if untreated, lead to liver cirrhosis. AIH could be classified, according to the autoantibodies pattern, into two subtypes: AIH type 1 presents at any age as a chronic liver disease with recurrent flares occasionally leading to liver cirrhosis and liver failure. Characterizing autoantibodies are anti-nuclear (ANA) and anti-smooth muscle (SMA), usually at high titer (>1:100). These autoantibodies are not specific and probably do not play a pathogenic role. AIH type 2 shows a peak of incidence in younger children, however with a fluctuating course. The onset is often as an acute liver failure. Anti-liver kidney microsome autoantibodies type 1 (LKM1) and/or anti-liver cytosol autoantibody (LC1) are typically found in AIH type 2 and these autoantibodies are accounted to have a potential pathogenic role. Diagnosis of AIH is supported by the histological finding of interface hepatitis with massive portal infiltration of mononuclear cells and plasmocytes. Inflammatory bile duct lesions are not unusual and may suggest features of ''overlap'' with P(A)SC. A diagnostic scoring system has been developed mainly for scientific purposes, but his diagnostic role in pediatric age is debated. Conventional treatment with steroids and azathioprine is the milestone of therapy and it is proved effective. Treatment withdrawal however should be attempted only after several years. Cyclosporin A is the alternative drug currently used for AIH and it is effective as steroids. P(A)SC exhibit a peak of incidence in the older child, typically in pre-pubertal age with a slight predominance of male gender. Small bile ducts are always concerned and the histological picture shows either acute cholangitis (bile duct
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
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
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, ...
Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P
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.
Monzani, Alice; Rapa, Anna; Fuiano, Nicola; Diddi, Giuliana; Prodam, Flavia; Bellone, Simonetta; Bona, Gianni
We aimed to identify potential correlates or risk factors for metabolic syndrome (MetS) in a cohort of schoolchildren. We quantified the prevalence of MetS, analysed the clustering of MetS components and described the distribution of metabolic parameters not included in MetS definition. Population-based, cross-sectional study. A total of 489 children (6·7-13 years) representing the 92·6% of the whole school population between the 1st year of primary school and the 2nd year of junior high school living in a centre of southern Italy. Weight, height, waist circumference, blood pressure (BP), laboratory parameters (indexes of glucose metabolism, lipid profile and uric acid), anamnestic and parental information, lifestyle and dietary habits were collected. Dietary habits data were available only for 353 children. MetS prevalence was 9·8%. Of 48 children with MetS, 38 (79·2%) were simultaneously positive for abdominal obesity and elevated BP. In children with MetS, the prevalence of insulin resistance, high insulin, high non-HDL(high-density lipoprotein) cholesterol and high uric acid was higher than in children without MetS. In 6·7-10-year-old children, only the presence of parental history of obesity [odds ratio (OR) = 4·3, 95% CI = 1·8-10·2] was higher in those with MetS than in those without. In 10·1-13-year-old children, the presence of parental history of obesity, the habits of no walking/cycling to school, long screen time and no breakfast consumption were higher in children with MetS than in those without, but only parental history of obesity (adjusted OR = 3·8, 95% CI = 1·7-8·4) remained significantly related to MetS in multivariate logistic regression. Parental obesity was strictly associated with MetS in all children and should be considered in clinical practice. In older children, wrong lifestyle and dietary habits were related to parental obesity. © 2013 John Wiley & Sons Ltd.
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
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.
Ball, Helen L; Moya, Eduardo; Fairley, Lesley; Westman, Janette; Oddie, Sam; Wright, John
In the UK, infants of South Asian parents have a lower rate of sudden infant death syndrome (SIDS) than White British infants. Infant care and life style behaviours are strongly associated with SIDS risk. This paper describes and explores variability in infant care between White British and South Asian families (of Bangladeshi, Indian or Pakistani origin) in Bradford, UK (the vast majority of which were Pakistani) and identifies areas for targeted SIDS intervention. A cross-sectional telephone interview study was conducted involving 2560 families with 2- to 4-month-old singleton infants enrolled in the Born in Bradford cohort study. Outcome measures were prevalence of self-reported practices in infant sleeping environment, sharing sleep surfaces, breast feeding, use of dummy or pacifier, and life style behaviours. We found that, compared with White British infants, Pakistani infants were more likely to: sleep in an adult bed (OR = 8.48 [95% CI 2.92, 24.63]); be positioned on their side for sleep (OR = 4.42 [2.85, 6.86]); have a pillow in their sleep environment (OR = 9.85 [6.39, 15.19]); sleep under a duvet (OR = 3.24 [2.39, 4.40]); be swaddled for sleep (OR = 1.49 [1.13, 1.97]); ever bed-share (OR = 2.13 [1.59, 2.86]); regularly bed-share (OR = 3.57 [2.23, 5.72]); ever been breast-fed (OR = 2.00 [1.58, 2.53]); and breast-fed for 8+ weeks (OR = 1.65 [1.31, 2.07]). Additionally, Pakistani infants were less likely to: sleep in a room alone (OR = 0.05 [0.03, 0.09]); use feet-to-foot position (OR = 0.36 [0.26, 0.50]); sleep with a soft toy (OR = 0.52 [0.40, 0.68]); use an infant sleeping bag (OR = 0.20 [0.16, 0.26]); ever sofa-share (OR = 0.22 [0.15, 0.34]); be receiving solid foods (OR = 0.22 [0.17, 0.30]); or use a dummy at night (OR = 0.40 [0.33, 0.50]). Pakistani infants were also less likely to be exposed to maternal smoking (OR = 0.07 [0.04, 0.12]) and to alcohol consumption by either parent. No difference was found in the prevalence of prone sleeping (OR = 1
Manea, Elena Maria; Leverger, Guy; Bellmann, Francoise; Stanescu, Popp Alina; Mircea, Adam; Lèbre, Anne-Sophie; Rötig, Agnes; Munnich, Arnold
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.
Ng, Yi Shiau; Grady, John P; Lax, Nichola Z; Bourke, John P; Alston, Charlotte L; Hardy, Steven A; Falkous, Gavin; Schaefer, Andrew G; Radunovic, Aleksandar; Mohiddin, Saidi A; Ralph, Matilda; Alhakim, Ali; Taylor, Robert W; McFarland, Robert; Turnbull, Douglass M; Gorman, Gráinne S
To provide insight into the mechanism of sudden adult death syndrome (SADS) and to give new clinical guidelines for the cardiac management of patients with the most common mitochondrial DNA mutation, m.3243A>G. These studies were initiated after two young, asymptomatic adults harbouring the m.3243A>G mutation died suddenly and unexpectedly. The m.3243A>G mutation is present in ∼1 in 400 of the population, although the recognized incidence of mitochondrial DNA (mtDNA) disease is ∼1 in 5000. Pathological studies including histochemistry and molecular genetic analyses performed on various post-mortem samples including cardiac tissues (atrium and ventricles) showed marked respiratory chain deficiency and high levels of the m.3243A>G mutation. Systematic review of cause of death in our m.3243A>G patient cohort showed the person-time incidence rate of sudden adult death is 2.4 per 1000 person-years. A further six cases of sudden death among extended family members have been identified from interrogation of family pedigrees. Our findings suggest that SADS is an important cause of death in patients with m.3243A>G and likely to be due to widespread respiratory chain deficiency in cardiac muscle. The involvement of asymptomatic relatives highlights the importance of family tracing in patients with m.3243A>G and the need for specific cardiac arrhythmia surveillance in the management of this common genetic disease. In addition, these findings have prompted the derivation of cardiac guidelines specific to patients with m.3243A>G-related mitochondrial disease. Finally, due to the prevalence of this mtDNA point mutation, we recommend inclusion of testing for m.3243A>G mutations in the genetic autopsy of all unexplained cases of SADS. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.
Collin, Simon M; Norris, Tom; Gringras, Paul; Blair, Peter S; Tilling, Kate; Crawley, Esther
Sleep abnormalities are characteristic of chronic fatigue syndrome (CFS, also known as 'ME'), however it is unknown whether sleep might be a causal risk factor for CFS/ME. We analysed data from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort. We describe sleep patterns of children aged 6 months to 11 years, who were subsequently classified as having (or not having) 'chronic disabling fatigue' (CDF, a proxy for CFS/ME) between the ages 13 and 18 years, and we investigated the associations of sleep duration at age nine years with CDF at age 13 years, as well as sleep duration at age 11 years with CDF at age 16 years. Children who had CDF during adolescence had shorter night-time sleep duration from 6 months to 11 years of age, and there was strong evidence that difficulties in going to sleep were more common in children who subsequently developed CDF. The odds of CDF at age 13 years were 39% lower (odds ratio (OR) = 0.61, 95% CI = 0.43, 0.88) for each additional hour of night-time sleep at age nine years, and the odds of CDF at age 16 years were 51% lower (OR = 0.49, 95% CI = 0.34, 0.70) for each additional hour of night-time sleep at age 11 years. Mean night-time sleep duration at age nine years was 13.9 (95% CI = 3.75, 24.0) minutes shorter among children who developed CDF at age 13 years, and sleep duration at age 11 years was 18.7 (95% CI = 9.08, 28.4) minutes shorter among children who developed CDF at age 16 (compared with children who did not develop CDF at 13 and 16 years, respectively). Children who develop chronic disabling fatigue in adolescence have shorter night-time sleep duration throughout early childhood, suggesting that sleep abnormalities may have a causal role in CFS/ME or that sleep abnormalities and CFS/ME are associated with a common pathophysiological cause. Copyright © 2018 The Author(s). Published by Elsevier B.V. All rights reserved.
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
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
Nabhani, Schafiq; Hönscheid, Andrea; Oommen, Prasad T; Fleckenstein, Bernhard; Schaper, Jörg; Kuhlen, Michaela; Laws, Hans-Jürgen; Borkhardt, Arndt; Fischer, Ute
We report a novel type of mutation in the death ligand FasL that was associated with a severe phenotype of the autoimmune lymphoproliferative syndrome in two patients. A frameshift mutation in the intracellular domain led to complete loss of FasL expression. Cell death signaling via its receptor and reverse signaling via its intracellular domain were completely abrogated. In vitro lymphocyte proliferation induced by weak T cell receptor stimulation could be blocked and cell death was induced by engagement of FasL in T cells derived from healthy individuals and a heterozygous carrier, but not in FasL-deficient patient derived cells. Expression of genes implicated in lymphocyte proliferation and activation (CCND1, NFATc1, NF-κB1) was increased in FasL-deficient T cells and could not be downregulated by FasL engagement as in healthy cells. Our data thus suggest, that deficiency in FasL reverse signaling may contribute to the clinical lymphoproliferative phenotype of ALPS. Copyright © 2014 Elsevier Inc. All rights reserved.
SPARC ectopic overexpression inhibits growth and promotes programmed cell death in acute myeloid leukemia transformed from myelodysplastic syndrome cells, alone and in combination with Ara-C treatment.
Nian, Qing; Chi, Jianxiang; Xiao, Qing; Wei, Chunmei; Costeas, Paul; Yang, Zesong; Liu, Lin; Wang, Li
Secreted protein acidic and rich in cysteine (SPARC) has a complex and pleiotropic biological role in cell life during disease. The role of SPARC in myelodysplastic syndrome (MDS) is not yet fully understood. In the present study, we investigated the role of SPARC protein overproduction in the proliferation and apoptosis of SKM-1 cells, an acute myeloid leukemia cell line transformed from MDS. SKM-1 cells were infected with the pGC-GV-SPARC vector. The cells were then assessed for proliferation and cell death following treatment with low-dose cytosine arabinoside (Ara‑C). The microarray analysis results revealed that samples from SPARC‑overexpressed cells compared to SPARC protein, in SKM-1 cells led to proliferation inhibition and promoted programmed cell death and these effects were greater when treated with Ara-C. The mRNA and protein expression levels of SPARC were detected by SPARC overexpression in cells treated with Ara-C resulting in a significant upregulation of the mixed lineage kinase domain-like (MLKL) gene expression and five other genes. The results showed that the necrotic signaling pathway may play a role when the two conditions were combined via the upregulation of the MLKL protein. MLKL upregulation in SPARC overexpressed cells treated with Ara-C, indicates necrosis as a possible cell death process for the SKM-1 cells under these stringent conditions.
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
Tong, Elisa K; England, Lucinda; Glantz, Stanton A
Prenatal and postnatal exposure to tobacco smoke adversely affects maternal and child health. Secondhand smoke (SHS) has been linked causally with sudden infant death syndrome (SIDS) in major health reports. In 1992, the US Environmental Protection Agency (EPA) first noted an association between SHS and SIDS, and both prenatal exposure and postnatal SHS exposure were listed as independent risk factors for SIDS in a 1997 California EPA report (republished in 1999 by the National Cancer Institute) and a 2004 US Surgeon General report. The tobacco industry has used scientific consultants to attack the evidence that SHS causes disease, most often lung cancer. Little is known about the industry's strategies to contest the evidence on maternal and child health. In 2001, a review was published on SIDS that acknowledged funding from the Philip Morris (PM) tobacco company. Tobacco industry documents related to this review were examined to identify the company's influence on the content and conclusions of this review. Tobacco industry documents include 40 million pages of internal memos and reports made available to the public as a result of litigation settlements against the tobacco industry in the United States. Between November 2003 and January 2004, we searched tobacco industry document Internet sites from the University of California Legacy Tobacco Documents Library and the Tobacco Documents Online website. Key terms included "SIDS" and names of key persons. Two authors conducted independent searches with similar key terms, reviewed the documents, and agreed on relevancy through consensus. Thirty documents were identified as relevant. Two drafts (an early version and a final version) of an industry-funded review article on SIDS were identified, and 2 authors independently compared these drafts with the final publication. Formal comments by PM executives made in response to the first draft were also reviewed. We used Science Citation Index in July 2004 to determine
Lai-Cheong, Joey E; McGrath, John A
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.
Lavezzi, Anna Maria; Mecchia, Donatella; Matturri, Luigi
The area postrema is a densely vascularized small protuberance at the inferoposterior limit of the fourth ventricle, outside of the blood-brain barrier. This structure, besides to induce emetic reflex in the presence of noxious chemical stimulation, has a multifunctional integrative capacity to send major and minor efferents to a variety of brain centers particularly involved in autonomic control of the cardiovascular and respiratory activities. In this study we aimed to focus on the area postrema, which is so far little studied in humans, in a large sample of subjects aged from 25 gestational weeks to 10 postnatal months, who died of unknown (sudden unexplained perinatal and infant deaths) and known causes (controls). Besides we investigated a possible link between alterations of this structure, sudden unexplained fetal and infant deaths and maternal smoking. By the application of morphological and immunohistochemical methods, we observed a significantly high incidence of alterations of the area postrema in fetal and infant victims of sudden death as compared with age-matched controls. These pathological findings, including hypoplasia, lack of vascularization, cystic formations and reactive gliosis, were related to maternal smoking. We hypothesize that components from maternal cigarette smoke, particularly in pregnancy, could affect neurons of the area postrema connected with specific nervous centers involved in the control of vital functions. In conclusion, we suggest that the area postrema should be in depth examined particularly in victims of sudden fetal or infant death with smoker mothers. Copyright © 2011 Elsevier B.V. All rights reserved.
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Andersson, Hedvig Bille; Pedersen, Frants; Engstrøm, Thomas; Helqvist, Steffen; Jensen, Morten Kvistholm; Jørgensen, Erik; Kelbæk, Henning; Räder, Sune Bernd Emil Werner; Saunamäki, Kari; Bates, Eric; Grande, Peer; Holmvang, Lene; Clemmensen, Peter
We aimed to study survival and causes of death in patients with ST-elevation acute coronary syndrome (STE-ACS) with and without obstructive coronary artery disease (CAD). We included 4793 consecutive patients with STE-ACS triaged for acute coronary angiography at a large cardiac invasive centre (2009-2014). Of these, 88% had obstructive CAD (stenosis ≥50%), 6% had non-obstructive CAD (stenosis 1-49%), and 5% had normal coronary arteries. Patients without obstructive CAD were younger and more often female with fewer cardiovascular risk factors. Median follow-up time was 2.6 years. Compared with patients with obstructive CAD, the short-term hazard of death (≤30 days) was lower in both patients with non-obstructive CAD [hazard ratio (HR) 0.49, 95% confidence interval (CI) 0.27-0.89, P = 0.018] and normal coronary arteries (HR 0.31, 95% CI 0.11-0.83, P = 0.021). In contrast, the long-term hazard of death (>30 days) was similar in patients with non-obstructive CAD (HR 1.15, 95% CI 0.77-1.72, P = 0.487) and higher in patients with normal coronary arteries (HR 2.44, 95% CI 1.58-3.76, P < 0.001), regardless of troponin levels. Causes of death were cardiovascular in 70% of patients with obstructive CAD, 38% with non-obstructive CAD, and 32% with normal coronary arteries. Finally, patients without obstructive CAD had lower survival compared with an age and sex matched general population. STE-ACS patients without obstructive CAD had a long-term risk of death similar to or higher than patients with obstructive CAD. Causes of death were less often cardiovascular. This suggests that STE-ACS patients without obstructive CAD warrant medical attention and close follow-up. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: email@example.com.
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Barigye, Robert; Schamber, Ev; Newell, Teresa K; Dyer, Neil W
Routine postmortem examination and histologic evaluation of tissue sections demonstrated hepatic lipidosis (HL) in 2 adult captive porcupines with a history of sudden death. The male porcupine had a markedly enlarged pale liver that microscopically showed large unilocular vacuoles within hepatocellular cytoplasm. The periparturient female had similar but less marked hepatic lesions and an incidental pulmonary mycosis. These findings suggest HL as an important differential of spontaneous death in captive porcupines. It is hypothesized that in addition to the widely documented causes, HL in captive porcupines may be specifically associated with nutritional imbalances caused by the feeding of unsuitable commercial diets. The possible association of the condition with dietary and other factors in captive porcupines needs to be thoroughly investigated.
Gerards, Mike; Kamps, Rick; van Oevelen, Jo; Boesten, Iris; Jongen, Eveline; de Koning, Bart; Scholte, Hans R; de Angst, Isabel; Schoonderwoerd, Kees; Sefiani, Abdelaziz; Ratbi, Ilham; Coppieters, Wouter; Karim, Latifa; de Coo, René; van den Bosch, Bianca; Smeets, Hubert
Leigh syndrome is an early onset, often fatal progressive neurodegenerative disorder caused by mutations in the mitochondrial or nuclear DNA. Until now, mutations in more than 35 genes have been reported to cause Leigh syndrome, indicating an extreme genetic heterogeneity for this disorder, but still only explaining part of the cases. The possibility of whole exome sequencing enables not only mutation detection in known candidate genes, but also the identification of new genes associated with Leigh syndrome in small families and isolated cases. Exome sequencing was combined with homozygosity mapping to identify the genetic defect in a Moroccan family with fatal Leigh syndrome in early childhood and specific magnetic resonance imaging abnormalities in the brain. We detected a homozygous nonsense mutation (c.20C>A; p.Ser7Ter) in the thiamine transporter SLC19A3. In vivo overexpression of wild-type SLC19A3 showed an increased thiamine uptake, whereas overexpression of mutant SLC19A3 did not, confirming that the mutation results in an absent or non-functional protein. Seventeen additional patients with Leigh syndrome were screened for mutations in SLC19A3 using conventional Sanger sequencing. Two unrelated patients, both from Moroccan origin and one from consanguineous parents, were homozygous for the same p.Ser7Ter mutation. One of these patients showed the same MRI abnormalities as the patients from the first family. Strikingly, patients receiving thiamine had an improved life-expectancy. One patient in the third family deteriorated upon interruption of the thiamine treatment and recovered after reinitiating. Although unrelated, all patients came from the province Al Hoceima in Northern Morocco. Based on the recombination events the mutation was estimated to have occurred 1250-1750 years ago. Our data shows that SLC19A3 is a new candidate for mutation screening in patients with Leigh syndrome, who might benefit from high doses of thiamine and/or biotin. Especially
Sergeev, Valentine; Perry, Frances; Roston, Thomas M; Sanatani, Shubhayan; Tibbits, Glen F; Claydon, Thomas W
Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2. Functional characterization was undertaken due to the variable phenotype in carriers, the discrepancy with published cases, and the importance of identifying a cause for recurrent deaths in a single family. Studies of the mutated ion channel in in vitro heterologous expression systems revealed that the mutation has no detectable impact on membrane surface expression, biophysical gating properties such as activation, deactivation and inactivation, or the amplitude of the protective current conducted by hERG channels during early repolarization. These observations suggest that the p.Pro963Thr mutation is not a monogenic disease-causing LQTS mutation despite evidence of co-segregation in two siblings affected by SIDS. Our findings demonstrate some of the potential pitfalls in post-mortem molecular testing and the importance of functional testing of gene variants in determining disease-causation, especially where the impacts of cascade screening can affect multiple generations. Copyright © 2017 Elsevier B.V. All rights reserved.
Busardò, Francesco Paolo; Portelli, Francesca; Montana, Angelo; Rotolo, Maria Concetta; Pichini, Simona; Maresi, Emiliano
We here report a case involving a 21-year-old female, found dead in a central square of a city in the south of Italy. Initial evidences and circumstances were suggestive of a death associated with a sexual assault. Two peripheral blood and two vitreous humor samples were collected for the purpose of gamma-hydroxybutyric acid (GHB) testing from the dead body at two different post-mortem intervals (PMIs): approximately 2 (t 0 ) and 36 (t 1 ) hours. The obtained results showed that, between t 0 and t 1, there was an increase of GHB concentrations in peripheral blood and vitreous humor of 66.3% and 8.1%, respectively. This case was the first evidence of GHB post mortem production in a dead body and not in vitro, showing that vitreous humor is less affected than peripheral blood in GHB post-mortem production. The value detected at t 1 in peripheral blood (53.4µg/mL) exceeded the proposed cut-off and if interpreted alone would have led to erroneous conclusions. This was not the case of vitreous humor GHB, whose post-mortem increase was minimal and it allowed to exclude a GHB exposure. Only after a broad forensic investigation including a complete autopsy, serological, histological, toxicological and haematology analyses, a diagnosis of idiopathic hypereosinophilic syndrome, a myeloproliferative disorder characterized by persistent eosinophilia associated with damage to multiple organs, was made and the cause of death was due to a pulmonary eosinophilic vasculitis responsible for an acute respiratory failure. Copyright © 2017 Elsevier B.V. All rights reserved.
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
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
There has been a major decrease in the incidence of sudden infant death syndrome (SIDS) since the American Academy of Pediatrics (AAP) released its recommendation in 1992 that infants be placed down for sleep in a nonprone position. Although the SIDS rate continues to fall, some of the recent decrease of the last several years may be a result of coding shifts to other causes of unexpected infant deaths. Since the AAP published its last statement on SIDS in 2000, several issues have become relevant, including the significant risk of side sleeping position; the AAP no longer recognizes side sleeping as a reasonable alternative to fully supine sleeping. The AAP also stresses the need to avoid redundant soft bedding and soft objects in the infant's sleeping environment, the hazards of adults sleeping with an infant in the same bed, the SIDS risk reduction associated with having infants sleep in the same room as adults and with using pacifiers at the time of sleep, the importance of educating secondary caregivers and neonatology practitioners on the importance of "back to sleep," and strategies to reduce the incidence of positional plagiocephaly associated with supine positioning. This statement reviews the evidence associated with these and other SIDS-related issues and proposes new recommendations for further reducing SIDS risk.
Huang, J; Waters, K A; Machaalani, R
Pituitary adenylate cyclase activating polypeptide (PACAP) and its complementary receptor, PAC1, are crucial in central respiratory control. PACAP Knockout (KO) mice exhibit a SIDS-like phenotype, with an inability to overcome noxious insults, compression of baseline ventilation, and death in the early post-neonatal period. PAC1 KO demonstrate similar attributes to PACAP-null mice, but with the addition of increased pulmonary artery pressure, consequently leading to heart failure and death. This study establishes a detailed interpretation of the neuroanatomical distribution and localization of both PACAP and PAC1 in the human infant brainstem and hippocampus, to determine whether any changes in expression are evident in infants who died of Sudden Infant Death Syndrome (SIDS) and any relationships to risk factors of SIDS including smoke exposure and sleep related parameters. Immunohistochemistry for PACAP and PAC1 was performed on formalin fixed and paraffin embedded human infant brain tissue of SIDS (n=32) and non-SIDS (n=12). The highest expression of PACAP was found in the hypoglossal (XII) of the brainstem medulla and lowest expression in the subiculum of the hippocampus. Highest expression of PAC1 was also found in XII of the medulla and lowest in the midbrain dorsal raphe (MBDR) and inferior colliculus. SIDS compared to non-SIDS had higher PACAP in the MBDR (p<0.05) and lower PAC1 in the medulla arcuate nucleus (p<0.001). Correlations were found between PACAP and PAC1 with the risk factors of smoke exposure, bed sharing, upper respiratory tract infection (URTI) and seasonal temperatures. The findings of this study show for the first time that some abnormalities of the PACAP system are evident in the SIDS brain and could contribute to the mechanisms of infants succumbing to SIDS. Copyright © 2017 Elsevier Inc. All rights reserved.
Chen, Ying-Hsin; Liu, Jui-Ming; Hsu, Ren-Jun; Hu, Sheng-Chuan; Harn, Horng-Jyh; Chen, Shee-Ping; Jeng, Jing-Ren; Wu, Chieh-Lin; Ho, Jar-Yi; Yu, Cheng-Ping
Angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphisms have been associated with acute coronary syndrome (ACS); however, several controversial results have also been found in different studied populations. This hospital-based, emergency room, case-control study in Taiwan retrospectively investigated 111 ACS patients, and 195 non-coronary subjects as a control group, to study the effects of ACE I/D polymorphism in the most urgent ACS patients. ACE I/D polymorphisms were determined by polymerase chain reaction-based assays and their associations with ACS risk, severity, and sudden cardiac death were determined. The ACE DD genotype was associated with ACS incidence. The DD genotype was associated with a significant 4-fold higher risk of ACS in multivariate analysis (odds ratio (OR) = 4.295; 95% confidence interval (CI): 1.436-12.851, p = 0.009), and a 3.35-fold higher risk of acute myocardial infarction. DD genotype carriers also had more than 3-fold higher risks of stenosis in all the three coronary arteries, left anterior descending artery infarction, and anterior wall infarction. In addition, the DD genotype was also associated with a higher risk of sudden cardiac death (OR = 6.484, 95% CI: 1.036-40.598, p = 0.046). This study demonstrated that the ACE DD genotype is an independent risk factor for ACS, and in particular, for acute myocardial infarction. In addition, the ACE DD genotype is also associated with greater ACS severity and a higher risk of sudden cardiac death. ACE genotyping is recommended for patients with a history of ACS, and more intensive preventive care is suggested for patients with the DD genotype.
Stark, Veronika C.; Arndt, Florian; Harring, Gesa; von Kodolitsch, Yskert; Kozlik-Feldmann, Rainer; Mueller, Goetz C.; Steiner, Kristoffer J.; Mir, Thomas S.
Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in childhood. Hence we now evaluate the predictive performance of Kid-SMS in a new cohort of children. We prospectively investigated 106 patients who were suspected of having MFS. At baseline, children were examined according to Kid-SMS. At baseline and follow-up visit, diagnosis of MFS was established or rejected using standard current diagnostic criteria according to the revised Ghent Criteria (Ghent-2). At baseline 43 patients were identified with a risk of MFS according to Kid-SMS whereas 21 patients had Ghent-2 diagnosis of MFS. Sensitivity was 100%, specificity 77%, negative predictive value 100% and Likelihood ratio of Kid-SMS 4.3. During follow-up period, three other patients with a stratified risk for MFS were diagnosed according to Ghent-2. We confirm very good predictive performance of Kid-SMS with excellent sensitivity and negative predictive value but restricted specificity. Kid-SMS avoids stigmatization due to diagnosis of MFS and thus restriction to quality of life. Especially outpatient pediatricians and pediatric cardiologists can use it for primary assessment. PMID:28943606
Stark, Veronika C; Arndt, Florian; Harring, Gesa; von Kodolitsch, Yskert; Kozlik-Feldmann, Rainer; Mueller, Goetz C; Steiner, Kristoffer J; Mir, Thomas S
Due to age dependent organ manifestation, diagnosis of Marfan syndrome (MFS) is a challenge, especially in childhood. It is important to identify children at risk of MFS as soon as possible to direct those to appropriate treatment but also to avoid stigmatization due to false diagnosis. We published the Kid-Short Marfan Score (Kid-SMS) in 2012 to stratify the pre-test probability of MFS in childhood. Hence we now evaluate the predictive performance of Kid-SMS in a new cohort of children. We prospectively investigated 106 patients who were suspected of having MFS. At baseline, children were examined according to Kid-SMS. At baseline and follow-up visit, diagnosis of MFS was established or rejected using standard current diagnostic criteria according to the revised Ghent Criteria (Ghent-2). At baseline 43 patients were identified with a risk of MFS according to Kid-SMS whereas 21 patients had Ghent-2 diagnosis of MFS. Sensitivity was 100%, specificity 77%, negative predictive value 100% and Likelihood ratio of Kid-SMS 4.3. During follow-up period, three other patients with a stratified risk for MFS were diagnosed according to Ghent-2. We confirm very good predictive performance of Kid-SMS with excellent sensitivity and negative predictive value but restricted specificity. Kid-SMS avoids stigmatization due to diagnosis of MFS and thus restriction to quality of life. Especially outpatient pediatricians and pediatric cardiologists can use it for primary assessment.
Mayes, Susan Dickerson; Calhoun, Susan L.; Murray, Michael J.; Morrow, Jill D.; Yurich, Kirsten K. L.; Cothren, Shiyoko; Purichia, Heather; Mahr, Fauzia; Bouder, James N.; Petersen, Christopher
The authors of the "Childhood Autism Rating Scale" (CARS) state in the manual that the best cutoff score for distinguishing low functioning autism (LFA) from intellectual disability is 30 for children and 28 for adolescents and adults. This study determined that a cutoff score of 25.5 was most accurate in differentiating between high functioning…
Thaler, Lea; Gauvin, Lise; Joober, Ridha; Groleau, Patricia; de Guzman, Rosherrie; Ambalavanan, Amirthagowri; Israel, Mimi; Wilson, Samantha; Steiger, Howard
DNA methylation allows for the environmental regulation of gene expression and is believed to link environmental stressors to such mental-illness phenotypes as eating disorders. Numerous studies have shown an association between bulimia nervosa (BN) and variations in brain-derived neurotrophic factor (BDNF). BDNF has also been linked to borderline personality disorder (BPD) and to such traits as reward dependence. We examined the extent to which BDNF methylation corresponded to bulimic or normal-eater status, and also to the presence of comorbid borderline personality disorder (BPD) and childhood abuse. Our sample consisted of 64 women with BN and 32 normal-eater (NE) control women. Participants were assessed for eating-disorder symptoms, comorbid psychopathology, and childhood trauma, and then they were required to provide blood samples for methylation analyses. We observed a significant site×group (BN vs. NE) interaction indicating that women with BN showed increases in methylation at specific regions of the BDNF promoter. Furthermore, examining effects of childhood abuse and BPD, we observed significant site×group interactions such that groups composed of individuals with childhood abuse or BPD had particularly high levels of methylation at selected CpG sites. Our findings suggest that BN, especially when co-occurring with childhood abuse or BPD, is associated with a propensity towards elevated methylation at specific BDNF promoter region sites. These findings imply that hypermethylation of the BDNF gene may be related to eating disorder status, developmental stress exposure, and comorbid psychopathology. Copyright © 2014 Elsevier Inc. All rights reserved.
Ross, Judith L.; Zeger, Martha P. D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.
Objective: The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype [Klinefelter syndrome, (KS)], who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods: Neuropsychological evaluation of general cognitive…
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.
Sävendahl, Lars; Maes, Marc; Albertsson-Wikland, Kerstin; Borgström, Birgit; Carel, Jean-Claude; Henrard, Séverine; Speybroeck, Niko; Thomas, Muriel; Zandwijken, Gladys; Hokken-Koelega, Anita
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.
Xue, Yuan; Schoser, Benedikt; Rao, Aliz R; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F; Schapacher-Tilp, Gudrun; Windpassinger, Christian; Wilcox, William R
Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family. The main features are pugilistic facies, skeletal deformities, and muscular hypertrophy despite a lack of exercise and cardiac ventricular hypertrophy leading to premature death. An ≈19 Mb critical region on X chromosome was identified through identity-by-descent analysis of 3 affected males. Exome sequencing was conducted on one affected male to identify the disease-causing gene and variant. A splice site variant (c.502-2A>G) in the FHL1 gene was highly suspicious among other candidate genes and variants. FHL1A is the predominant isoform of FHL1 in cardiac and skeletal muscle. Sequencing cDNA showed the splice site variant led to skipping of exons 6 of the FHL1A isoform, equivalent to the FHL1C isoform. Targeted analysis showed that this splice site variant cosegregated with disease in the family. Western blot and immunohistochemical analysis of muscle from the proband showed a significant decrease in protein expression of FHL1A. Real-time polymerase chain reaction analysis of different isoforms of FHL1 demonstrated that the FHL1C is markedly increased. Mutations in the FHL1 gene have been reported in disorders with skeletal and cardiac myopathy but none has the skeletal or facial phenotype seen in patients with Uruguay syndrome. Our data suggest that a novel FHL1 splice site variant results in the absence of FHL1A and the abundance of FHL1C, which may contribute to the complex and severe phenotype. Mutation screening of the FHL1 gene should be considered for patients with uncharacterized myopathies and cardiomyopathies. © 2016 American Heart Association, Inc.
Zhang, Liyong; Tester, David J.; Lang, Di; Chen, Yili; Zheng, Jinxiang; Gao, Rui; Corliss, Robert F.; Tang, Shuangbo; Kyle, John W.; Liu, Chao; Ackerman, Michael J.; Makielski, Jonathan C.; Cheng, Jianding
Objective To look for previously unrecognized cardiac structural abnormalities and address the genetic cause for sudden unexplained nocturnal death syndrome (SUNDS). Methods and Results 148 SUNDS victims and 444 controls (matched 1:3 on gender, race, and age of death within 1 year) were collected from Sun Yat-sen University from January 1, 1998 to December 31, 2014 to search morphological changes. Additional 17 Brugada syndrome (BrS) patients collected from January 1, 2006 to December 31, 2014 served as a comparative disease cohort. The Target Captured Next Generation sequencing for 80 genes associated with arrhythmia/cardiomyopathy were performed in 44 SUNDS victims and 17 BrS patients to characterize the molecular spectrum. SUNDS had slight but statistically significantly increased heart weight and valve circumference compared to controls. 12/44 SUNDS victims (SCN5A, SCN1B, CACNB2, CACNA1C, AKAP9, KCNQ1, KCNH2, KCNJ5, GATA4, NUP155, ABCC9) and 6/17 BrS patients (SCN5A, CACNA1C, P>.05) carried rare variants in primary arrhythmia-susceptibility genes. Only 2/44 SUNDS cases compared to 5/17 BrS patients hosted a rare variant in the most common BrS causing gene, SCN5A (P=.01). Using the strict American College of Medical Genetics guideline-based definition, only 2/44 (KCNQ1) SUNDS and 3/17 (SCN5A) BrS patients hosted a “(likely) pathogenic” variant. The 14/44 SUNDS cases with cardiomyopathy-related variants had a subtle but significantly decreased circumference of cardiac valves, and tended to die on average 5–6 years younger compared to the remaining 30 cases (P=.02). Conclusions We present the first comprehensive autopsy evidence that SUNDS victims may have concealed cardiac morphological changes. SUNDS and BrS may result from different molecular pathological underpinnings. The distinct association between cardiomyopathy-related rare variants and SUNDS warrants further investigation. PMID:27707468
Bulosan, Marievic; Pauley, Kaleb; Yo, Kyumee; Chan, Edward K.; Katz, Joseph; Peck, Ammon B.; Cha, Seunghee
To date, little is known why exocrine glands are subject to immune cell infiltrations in Sjögren’s syndrome (SjS). Studies with SjS-prone-C57BL/6.NOD-Aec1Aec2 mice showed altered glandular homeostasis in the submandibular glands (SMX) at 8 weeks prior to disease onset and suggested potential involvement of inflammatory caspases (caspases-11 and -1). To determine if inflammatory caspases are critical for the increased epithelial cell death prior to SjS-like disease, we investigated molecular events involving caspase-11/caspase-1 axis. Our results revealed concurrent up-regulation of caspase-11 in macrophages, STAT-1 activity, caspase-1 activity, and apoptotic epithelial cells in the SMX of C57BL/6.NOD-Aec1Aec2 at 8 weeks. Caspase-1, a critical factor for IL-1β and IL-18 secretion, resulted in elevated level of IL-18 in saliva. Interestingly, TUNEL-positive cells in the SMX of C57BL/6.NOD-Aec1Aec2 were not co-localized with caspase-11, indicating that caspase-11 functions in a non-cell autonomous manner. Increased apoptosis of a human salivary gland (HSG) cell line occurred only in the presence of LPS-and IFN-γ-stimulated human monocytic THP-1 cells, which was reversed when caspase-1 in THP-1 cells was targeted by siRNA. Taken together, our study discovered that inflammatory caspases are essential in promoting pro-inflammatory microenvironment and influencing increased epithelial cell death in the target tissues of SjS before disease onset. PMID:18936772
Islam, Mohammed Saiful; Sharif, Ahmad Raihan; Sazzad, Hossain M S; Khan, A K M Dawlat; Hasan, Murshid; Akter, Shirina; Rahman, Mahmudur; Luby, Stephen P; Heffelfinger, James D; Gurley, Emily S
Recurrent outbreaks of acute encephalitis syndrome (AES) among children in lychee growing areas in Asia highlight the need to better understand the etiology and the context. We conducted a mixed-methods study to identify risk factors for disease, and behaviors and practices around lychee cultivation in an AES outbreak community in northern Bangladesh in 2012. The outbreak affected 14 children; 13 died. The major symptoms included unconsciousness, convulsion, excessive sweating, and frothy discharge. The median time from illness onset to unconsciousness was 2.5 hours. The outbreak corresponded with lychee harvesting season. Multiple pesticides including some banned in Bangladesh were frequently used in the orchards. Visiting a lychee orchard within 24 hours before onset (age-adjusted odds ratio [aOR] = 11.6 [1.02-109.8]) and 3 days (aOR = 7.2 [1.4-37.6]), and family members working in a lychee orchard (aOR = 7.2 [1.7-29.4]) and visiting any garden while pesticides were being applied (aOR = 4.9 [1.0-19.4]) in 3 days preceding illness onset were associated with illness in nearby village analysis. In neighborhood analysis, visiting an orchard that used pesticides (aOR = 8.4 [1.4-49.9]) within 3 days preceding illness onset was associated with illness. Eating lychees was not associated with illness in the case-control study. The outbreak was linked to lychee orchard exposures where agrochemicals were routinely used, but not to consumption of lychees. Lack of acute specimens was a major limitation. Future studies should target collection of environmental and food samples, acute specimens, and rigorous assessment of community use of pesticides to determine etiology.
Islam, Mohammed Saiful; Sharif, Ahmad Raihan; Sazzad, Hossain M. S.; Khan, A. K. M. Dawlat; Hasan, Murshid; Akter, Shirina; Rahman, Mahmudur; Luby, Stephen P.; Heffelfinger, James D.; Gurley, Emily S.
Abstract. Recurrent outbreaks of acute encephalitis syndrome (AES) among children in lychee growing areas in Asia highlight the need to better understand the etiology and the context. We conducted a mixed-methods study to identify risk factors for disease, and behaviors and practices around lychee cultivation in an AES outbreak community in northern Bangladesh in 2012. The outbreak affected 14 children; 13 died. The major symptoms included unconsciousness, convulsion, excessive sweating, and frothy discharge. The median time from illness onset to unconsciousness was 2.5 hours. The outbreak corresponded with lychee harvesting season. Multiple pesticides including some banned in Bangladesh were frequently used in the orchards. Visiting a lychee orchard within 24 hours before onset (age-adjusted odds ratio [aOR] = 11.6 [1.02–109.8]) and 3 days (aOR = 7.2 [1.4–37.6]), and family members working in a lychee orchard (aOR = 7.2 [1.7–29.4]) and visiting any garden while pesticides were being applied (aOR = 4.9 [1.0–19.4]) in 3 days preceding illness onset were associated with illness in nearby village analysis. In neighborhood analysis, visiting an orchard that used pesticides (aOR = 8.4 [1.4–49.9]) within 3 days preceding illness onset was associated with illness. Eating lychees was not associated with illness in the case–control study. The outbreak was linked to lychee orchard exposures where agrochemicals were routinely used, but not to consumption of lychees. Lack of acute specimens was a major limitation. Future studies should target collection of environmental and food samples, acute specimens, and rigorous assessment of community use of pesticides to determine etiology. PMID:28749763
Scott, B R; Lyzlov, A F; Osovets, S V
; and (6) the expected cases of death via the hematopoietic syndrome mode for Mayak workers chronically exposed during work shifts at Site A to gamma rays and neutrons can be predicted using ln(2)B M[D]; where B (pronounced "beh") is the number of workers at risk (criticality accident victims excluded); and M[D] is the average (mean) value of D (averaged over the worker population at risk, for Site A, for the time period considered). These results can be used to facilitate a Phase II study of deterministic radiation effects among Mayak workers chronically exposed to gamma rays and neutrons.
Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.
Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…
Adults with irritable bowel syndrome (IBS) frequently identify foods as exacerbating their gastrointestinal symptoms. In children with IBS, the prevalence of perceived food intolerances and their impact are unknown. Our aim was to determine the prevalence of self-perceived food intolerances and the ...
Sabin, M A; Hunt, L P; Ford, A L; Werther, G A; Crowne, E C; Shield, J P H
To investigate whether changes in glucose concentrations during an OGTT in obese children reflect the presence of peripheral insulin resistance and/or cardiovascular risk factors more closely than single measurements of fasting plasma glucose (FPG). One hundred and twenty-two obese children attending our Paediatric Obesity Service underwent formal OGTTs, following the measurement of blood pressure and fasting levels of insulin, glucose and lipid profiles in the majority. Fasting insulin was used as a surrogate measure of insulin sensitivity. Three different child-specific definitions for metabolic syndrome were used to identify clustering of cardiovascular risk factors in 65 of these children. In the whole group, 10.7% had IGT but changes in glucose during the OGTT were not influenced by age, sex, pubertal status or raw (or age- and sex-adjusted) body mass index (BMI). During the OGTT, FPG, glucose at 60 min and area under the glucose curve correlated highly with fasting insulin. Children with metabolic syndrome (defined using any of three definitions) had comparable FPG levels to those without metabolic syndrome, but they demonstrated significantly elevated glucose levels at 60 min. On sub-group analysis, obese children with normal carbohydrate metabolism were significantly more likely to have a 1 h glucose level > or = 7.8 mmol/l if they had metabolic syndrome (P = 0.026). These data suggest that an elevated 1 h post-load glucose measurement is seen in obese children who have a coexistent clustering of cardiovascular risk factors.
Anderson, J; Akond, M; Kassem, M A; Meksem, K; Kantartzi, S K
The best way to protect yield loss of soybean [Glycine max (L.) Merr.] due to sudden death syndrome (SDS), caused by Fusarium virguliforme (Aoki, O'Donnel, Homma & Lattanzi), is the development and use of resistant lines. Mapping quantitative trait loci (QTL) linked to SDS help developing resistant soybean germplasm through molecular marker-assisted selection strategy. QTL for SDS presented herein are from a high-density SNP-based genetic linkage map of MD 96-5722 (a.k.a 'Monocacy') by 'Spencer' recombinant inbred line using SoySNP6K Illumina Infinium BeadChip genotyping array. Ninety-four F 5:7 lines were evaluated for 2 years (2010 and 2011) at two locations (Carbondale and Valmeyer) in southern Illinois, USA to identify QTL controlling SDS resistance using disease index (DX). Composite interval mapping identified 19 SDS controlling QTL which were mapped on 11 separate linkage group (LG) or chromosomes (Chr) out of 20 LG or Chr of soybean genome. Many of these significant QTL identified in one environment/year were confirmed in another year or environment, which suggests a common genetic effects and modes of the pathogen. These new QTL are useful sources for SDS resistance studies in soybean breeding, complementing previously reported loci.
Broadbelt, Kevin G; Barger, Melissa A; Paterson, David S; Holm, Ingrid A; Haas, Elisabeth A; Krous, Henry F; Kinney, Hannah C; Markianos, Kyriacos; Beggs, Alan H
An important subset of the sudden infant death syndrome (SIDS) is associated with multiple serotonergic (5-HT) abnormalities in regions of the medulla oblongata. The mouse ortholog of the fifth Ewing variant gene (FEV) is critical for 5-HT neuronal development. A putatively rare intronic variant [IVS2-191_190insA, here referred to as c.128-(191_192)dupA] has been reported as a SIDS-associated mutation in an African-American population. We tested this association in an independent dataset: 137 autopsied cases (78 SIDS, 59 controls) and an additional 296 control DNA samples from Coriell Cell Repositories. In addition to the c.128-(191_192)dupA variant, we observed an associated single-base deletion [c.128-(301-306)delG] in a subset of the samples. Neither of the two FEV variants showed significant association with SIDS in either the African-American subgroup or the overall cohort. Although we found a significant association of c.128-(191_192)dupA with SIDS when San Diego Hispanic SIDS cases were compared with San Diego Hispanic controls plus Mexican controls (p = 0.04), this became nonsignificant after multiple testing correction. Among Coriell controls, 33 of 99 (33%) African-American and 0 of 197 (0%) of the remaining controls carry the polymorphism (c.128-(191_192)dupA). The polymorphism seems to be a common, likely nonpathogenic, variant in the African-American population.
Hook, E B
Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over.
Hook, E B
Trisomy 13 (Patau syndrome) is rare in newborns. Data on rates in 167,774 live births from 17 separate studies are reviewed, and the following pooled rates found for: (1) 47,trisomy 13, 8.3 X 10(-5) (1/12,000); and (2) 46, (D/13 Robertsonian translocations), 4.2 X 10(-5) (1/24,000)--mutants, 1.2 X 10(-5) (1/80,000) to 1.8 X 10(-5) (1/56,000); and familial cases, 2.4 X 10(-5) (1/42,000) to 3.0 X 10(-5) (1/33,000). The rate of trisomy 13 (47, + 13) in liveborns (ignoring possible biases in studies and heterogeneity in rates) is, with 95% confidence, between 4.6 X 10(-5) (1/21,700) and 14.0 X 10(-5) (1/7,000), with the most likely figure close to 8 X 10(-5) (1/12,000). Numbers are insufficient to construct a comparably narrow confidence interval for translocation cases. The rates of 47, + 13 may be estimated in (1) spontaneous abortuses, about 0.8%--1.0% (100-fold greater than in liveborns); (2) early neonatal deaths, about 0.4% (50-fold greater than in liveborns); and (3) amniocentesis, higher than in liveborns, at least for mothers 40 years and over. PMID:7446526
Zhang, Yi-Jun; Yang, Jian-Hua; Shi, Qiao-Su; Zheng, Ling-Ling; Liu, Jun; Zhou, Hui; Zhang, Hui; Qu, Liang-Hu
Imprinted small nucleolar RNAs (snoRNAs) are only found in eutherian genomes and closely related to brain functions. A complex human neurological disease, Prader-Willi syndrome (PWS), is primarily attributed to the deletion of imprinted snoRNAs in chromosome 15q11-q13. Here we investigated the snoRNA repertoires in the PWS locus of 12 mammalian genomes and their evolution processes. A total of 613 imprinted snoRNAs were identified in the PWS homologous loci and the gene number was highly variable across lineages, with a peak in Euarchontoglires. Lineage-specific gene gain and loss events account for most extant genes of the HBII-52 (SNORD115) and the HBII-85 (SNORD116) gene family, and remarkable high gene-birth rates were observed in the primates and the rodents. Meanwhile, rapid sequence substitution occurred only in imprinted snoRNA genes, rather than their flanking sequences or the protein-coding genes located in the same imprinted locus. Strong selective constraints on the functional elements of these imprinted snoRNAs further suggest that they are subjected to birth-and-death evolution. Our data suggest that the regulatory role of HBII-52 on 5-HT2CR pre-mRNA might originate in the Euarchontoglires through adaptive process. We propose that the rapid evolution of PWS-related imprinted snoRNAs has contributed to the neural development of Euarchontoglires. PMID:24945811
Miles, Lizzy; Corr, Charles A
This article explains the meaning of the phrase Death Cafe and describes what typically occurs at a Death Cafe gathering. The article traces the history of the Death Cafe movement, explores some reasons why people take part in a Death Cafe gathering, and gives examples of what individuals think they might derive from their participation. In addition, this article notes similarities between the Death Cafe movement and three other developments in the field of death, dying, and bereavement. Finally, this article identifies two provisional lessons that can be drawn from Death Cafe gatherings and the Death Cafe movement itself.
Pelcastre-Villafuerte, Blanca; Riquer-Fernández, Florinda; de León-Reyes, Verónica; Reyes-Morales, Hortensia; Gutiérrez-Trujillo, Gonzalo; Bronfman, Mario
To describe and compare household dynamics in terms of structure, beliefs and nutrition-related behavior in the homes of malnourished and well-nourished children less than five years of age. The authors carried out a qualitative ethnographic study using participant observation, and in depth interviews. Interviews were conducted with the child's caretaker or key informants, prior oral informed consent. Child care and childhood feeding practices at home and in the community were the focus of observations. The study included two periods of field work conducted in 2001, in three rural municipalities from the Río Balsas region, in Guerrero state, Mexico. The study's ethical and methodological aspects were approved by the National Research Commission of the Mexican Institute of Social Security. Households were differentially characterized by number of members, composition, type of relationship, source of income, and interactions among household members and with the community. Monoparental structures, in an early stage of the household cycle, give rise to conditions that render the child prone to malnutrition. Extended family structure represented more favorable household dynamics.
Malhotra, Savita; Gupta, Nitin
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,…
Muldoon, Meghan; Ousley, Opal Y; Kobrynski, Lisa J; Patel, Sheena; Oster, Matthew E; Fernandez-Carriba, Samuel; Cubells, Joseph F; Coleman, Karlene; Pearce, Bradley D
22q11 deletion syndrome (22qDS), also known as DiGeorge syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months, whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p < 0.05), Speech (p < 0.01), and Symbolic domains (p < 0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes.
Muldoon, Meghan; Ousley, Opal Y.; Kobrynski, Lisa J.; Patel, Sheena; Oster, Matthew E.; Fernandez-Carriba, Samuel; Cubells, Joseph F.; Coleman, Karlene; Pearce, Bradley D.
22q11 deletion syndrome (22qDS), also known as DiGeorge Syndrome, is a copy number variant disorder that has a diverse clinical presentation including hypocalcaemia, learning disabilities, and psychiatric disorders. Many patients with 22q11DS present with signs that overlap with autism spectrum disorder (ASD) yet the possible physiological mechanisms that link 22q11DS with ASD are unknown. We hypothesized that early childhood hypocalcemia influences the neurobehavioral phenotype of 22q11DS. Drawing on a longitudinal cohort of 22q11DS patients, we abstracted albumin-adjusted serum calcium levels from 151 participants ranging in age from newborn to 19.5 years (mean 2.5 years). We then examined a subset of 20 infants and toddlers from this group for the association between the lowest calcium level on record and scores on the Communication and Symbolic Behavior Scales-Developmental Profile Infant-Toddler Checklist (CSBS-DP ITC). The mean (SD) age at calcium testing was 6.2 (8.5) months whereas the mean (SD) age at the CSBS-DP ITC assessment was 14.7 (3.8) months. Lower calcium was associated with significantly greater impairment in the CSBS-DP ITC Social (p<0.05), Speech (p<0.01), and Symbolic domains (p<0.05), in regression models adjusted for sex, age at blood draw, and age at the psychological assessment. Nevertheless, these findings are limited by the small sample size of children with combined data on calcium and CSBS-DP ITC, and hence will require replication in a larger cohort with longitudinal assessments. Considering the role of calcium regulation in neurodevelopment and neuroplasticity, low calcium during early brain development could be a risk factor for adverse neurobehavioral outcomes. PMID:25267002
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.
Quigley, Charmian A; Wan, Xiaohai; Garg, Sipi; Kowal, Karen; Cutler, Gordon B; Ross, Judith L
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
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).…
Ross, Judith L; Kowal, Karen; Quigley, Charmian A; Blum, Werner F; Cutler, Gordon B; Crowe, Brenda; Hovanes, Karine; Elder, Frederick F; Zinn, Andrew R
To evaluate the growth disorder and phenotype in prepubertal children with Leri-Weill dyschondrosteosis (LWD), a dominantly inherited skeletal dysplasia, and to compare the findings from girls with Turner syndrome (TS). We studied the auxologic and phenotypic characteristics in 34 prepubertal LWD subjects (ages 1 to 10 years; 20 girls, 14 boys) with confirmed short stature homeobox-containing gene (SHOX) abnormalities. For comparative purposes, we evaluated similar physical and growth parameters in 76 girls with TS (ages 1 to 19 years) and 24 girls with LWD (ages 1 to 15 years) by using data collected from the postmarketing observational study, GeNeSIS. In the clinic sample LWD subjects, height standard deviation score ranged from -5.5 to +0.1 (-2.3 +/- 1.3, girls and -1.8 +/- 0.6, boys). Wrist changes related to Madelung deformity were present in 18 of 34 (53%) LWD subjects. In comparing the LWD and TS populations in the GeNeSIS sample, Madelung deformity, increased carrying angle, and scoliosis were more prevalent in the LWD population, whereas high arched palate was similarly prevalent in the two populations. Short stature is common in both LWD (girls and boys) and TS (girls). Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing.
Hunt, Nicholas J; Waters, Karen A; Machaalani, Rita
We previously demonstrated that sudden infant death syndrome (SIDS) infants have decreased orexin immunoreactivity within the hypothalamus and pons compared to non-SIDS infants. In this study, we examined multiple mechanisms that may promote loss of orexin expression including programmed cell death, impaired maturation/structural stability, neuroinflammation and impaired unfolding protein response (UPR). Immunofluorescent and immunohistochemical staining for a number of markers was performed in the tuberal hypothalamus and pons of infants (1-10 months) who died from SIDS (n = 27) compared to age- and sex-matched non-SIDS infants (n = 19). The markers included orexin A (OxA), dynorphin (Dyn), cleaved caspase 3 (CC3), cleaved caspase 9 (CC9), glial fibrillary acid protein (GFAP), tubulin beta chain 3 (TUBB3), myelin basic protein (MBP), interleukin 1β (IL-1β), terminal deoxynucleotidyl transferase dUTP nick-end labelling (TUNEL), c-fos and the UPR activation markers: phosphorylated protein kinase RNA-like endoplasmic reticulum kinase (pPERK), and activating transcription factor 4 (ATF4). It was hypothesised that pPERK and ATF4 would be upregulated in Ox neurons in SIDS compared to non-SIDS. Within the hypothalamus, OxA and Dyn co-localised with a 20 % decrease in expression in SIDS infants (P = 0.001). pPERK and ATF4 expression in OxA neurons were increased by 35 % (P = 0.001) and 15 % (P = 0.001) respectively, with linear relationships between the decreased OxA/Dyn expression and the percentages of co-localised pPERK/OxA and ATF4/OxA evident (P = 0.01, P = 0.01). No differences in co-localisation with CC9, CC3, TUNEL or c-fos, nor expression of MBP, TUBB3, IL-1β and GFAP, were observed in the hypothalamus. In the pons, there were 40 % and 20 % increases in pPERK expression in the locus coeruleus (P = 0.001) and dorsal raphe (P = 0.022) respectively; ATF4 expression was not changed. The findings that decreased orexin levels in SIDS infants
Bright, Fiona M; Vink, Robert; Byard, Roger W; Duncan, Jhodie R; Krous, Henry F; Paterson, David S
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia. Abnormalities in SP neurotransmission may therefore result in autonomic dysfunction during sleep and contribute to SIDS deaths. [125I] Bolton Hunter SP autoradiography was used to map the distribution and density of the SP, NK1R to 13 specific nuclei intimately related to cardiorespiratory function and autonomic control in the human infant medulla of 55 SIDS and 21 control (non-SIDS) infants. Compared to controls, SIDS cases exhibited a differential, abnormal developmental profile of the SP/NK1R system in the medulla. Furthermore the study revealed significantly decreased NK1R binding within key medullary nuclei in SIDS cases, principally in the nucleus tractus solitarii (NTS) and all three subdivisions of the inferior portion of the olivo-cerebellar complex; the principal inferior olivary complex (PIO), medial accessory olive (MAO) and dorsal accessory olive (DAO). Altered NK1R binding was significantly influenced by prematurity and male sex, which may explain the increased risk of SIDS in premature and male infants. Abnormal NK1R binding in these medullary nuclei may contribute to the defective interaction of critical medullary mechanisms with cerebellar sites, resulting in an inability of a SIDS infant to illicit appropriate respiratory and
Vink, Robert; Byard, Roger W.; Duncan, Jhodie R.; Krous, Henry F.; Paterson, David S.
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia. Abnormalities in SP neurotransmission may therefore result in autonomic dysfunction during sleep and contribute to SIDS deaths. [125I] Bolton Hunter SP autoradiography was used to map the distribution and density of the SP, NK1R to 13 specific nuclei intimately related to cardiorespiratory function and autonomic control in the human infant medulla of 55 SIDS and 21 control (non-SIDS) infants. Compared to controls, SIDS cases exhibited a differential, abnormal developmental profile of the SP/NK1R system in the medulla. Furthermore the study revealed significantly decreased NK1R binding within key medullary nuclei in SIDS cases, principally in the nucleus tractus solitarii (NTS) and all three subdivisions of the inferior portion of the olivo-cerebellar complex; the principal inferior olivary complex (PIO), medial accessory olive (MAO) and dorsal accessory olive (DAO). Altered NK1R binding was significantly influenced by prematurity and male sex, which may explain the increased risk of SIDS in premature and male infants. Abnormal NK1R binding in these medullary nuclei may contribute to the defective interaction of critical medullary mechanisms with cerebellar sites, resulting in an inability of a SIDS infant to illicit appropriate respiratory and
Newlands, Mary; Emery, John S.
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)
Saadi, A T; Blackwell, C C; Essery, S D; Raza, M W; el Ahmer, O R; MacKenzie, D A; James, V S; Weir, D M; Ogilvie, M M; Elton, R A; Busuttil, A; Keeling, J W
Asymptomatic infection due to Bordetella pertussis has been suggested to be one cause of sudden infant death syndrome (SIDS). We examined developmental and environmental factors previously found to affect binding of another toxigenic species, Staphylococcus aureus, to human epithelial cells: expression of the Lewis(a) antigen; infection with respiratory syncytial virus (RSV); exposure to cigarette smoke; and the inhibitory effect of breast milk on bacterial binding. Binding of two strains of B. pertussis (8002 and 250825) to buccal epithelial cells was significantly reduced by treating the cells with monoclonal antibodies to Lewis(a) (P < 0.05) and Lewis(x) (P < 0.01) antigens. Both strains bound in significantly greater numbers to cells from smokers compared with cells from non-smokers (P < 0.05). HEp-2 cells infected with RSV subtypes A or B had higher binding indices for both 8002 (P < 0.001) and 250825 (P < 0.01). On RSV-infected cells, there was significantly enhanced binding of monoclonal antibodies to Lewis(x) (P < 0.05), CD14 (P < 0.001) and CD18 (P < 0.01); and pre-treatment of cells with anti-CD14 or CD18 also significantly reduced binding of both strains of B. pertussis. Pre-treatment of the bacteria with human milk significantly reduced their binding to epithelial cells. The results are discussed in relation to our three-year survey of bacterial carriage among 253 healthy infants, their mothers and local SIDS cases between 1993-1995 and in relation to the change to an earlier immunisation schedule for infants and the recent decline in SIDS in Britain.
Ramirez, Sanja; Allen, Travis; Villagracia, Lindsay; Chae, Yooree; Ramirez, Jan M; Rubens, Daniel D
Infants that succumb to Sudden Infant Death Syndrome (SIDS) have been identified with inner ear dysfunction (IED) at birth and on autopsy. We previously investigated whether IED could play a mechanistic role in SIDS. We discovered that animals with IED displayed significant suppression of movement arousal to a hypoxic-hypercarbic gas mixture under light anesthesia. In the current study we investigated the role of each gas in triggering movements and the response to hypercarbia during natural sleep without anesthesia. Seventeen-day-old CD-1 mice received intra-tympanic gentamicin (IT-Gent) injections to precipitate IED. The movement response to hypercarbia, hypoxia and hypoxia-hypercarbia was compared to controls under light anesthesia. Hypercarbia did not stimulate vigorous movements in any animals under either sleep condition. Hypoxia triggered vigorous movements in controls (p<0.05) and a decreased response in IT-Gent animals under light anesthesia. This contrasted with combined hypoxia-hypercarbia, in which IT-Gent animals displaced significantly suppressed movements compared to controls (p<0.05). Our findings portray that a degree of intact inner ear function is necessary for instigating the movement response. Additionally, hypoxia is the trigger for the movement response while carbon dioxide (CO 2 ) suppresses it. The finding that carbon dioxide did not stimulate movement during natural sleep is an important finding. This contrasts with other studies that have identified hypercarbia as an arousal stimulus with EEG. Further studies are warranted to evaluate the precise role of the inner ear in the movement response and potential association with SIDS. The early detection of IED in SIDS predisposed cases could be invaluable. Copyright © 2016 IBRO. Published by Elsevier Ltd. All rights reserved.
Komazawa, Osuke; Kaneko, Satoshi; K’Opiyo, James; Kiche, Ibrahim; Wanyua, Sheru; Shimada, Masaaki; Karama, Mohamed
Background Increasing the distribution and use of insecticide-treated nets (ITNs) in Sub-Saharan Africa has made controlling malaria with ITNs more practical. We evaluated community effects induced by ITNs, specifically long-lasting insecticidal nets (LLINs), under ordinary conditions in an endemic malaria area of Western Kenya. Methods Using the database from Mbita Health and Demographic Surveillance System (HDSS), children younger than 5 years old were assessed over four survey periods. We analyzed the effect of bed net usage, LLIN density and population density of young people around a child on all-cause child mortality (ACCM) rates using Cox PH models. Results During the study, 14,554 children were followed and 250 deaths were recorded. The adjusted hazard ratios (HRs) for LLIN usage compared with no net usage were not significant among the models: 1.08 (95%CI 0.76–1.52), 1.19 (95%CI 0.69–2.08) and 0.92 (95%CI 0.42–2.02) for LLIN users, untreated net users, and any net users, respectively. A significant increasing linear trend in risk across LLIN density quartiles (HR = 1.25; 95%CI 1.03–1.51) and a decreasing linear trend in risk across young population density quartiles among non-net user children (HR = 0.77; 95%CI 0.63–0.94) were observed. Conclusions Although our data showed that current LLIN coverage level (about 35%) could induce a community effect to protect children sleeping without bed nets even in a malaria-endemic area, it appears that a better system is needed to monitor the current malaria situation globally in order to optimize malaria control programs with limited resources. PMID:23185378
Landes, Scott D
Utilizing a particular case study of a woman attempting to come to terms with her death, this article explores the difficult metaphors of death present within the Christian tradition. Tracing a Christian understanding of death back to the work of Augustine, the case study is utilized to highlight the difficulties presented by past and present theology embracing ideas of punishment within death. Following the trajectory of the case study, alternative understandings of death present in recent Christian theology and within Native American spirituality are presented in an attempt to find room for a fuller meaning of death post-reconciliation, but premortem.
Chan, Winnie Ky; Chang, Kai On; Lau, Wing Hung
We report a 16-year-old girl who was diagnosed with acute leukaemia and a marked leucocytosis >200 × 10 9 /L. She presented with marked hypophosphatemia, hypokalemia, acute renal failure and acute respiratory failure. These electrolytes disturbances may indicate rapid tumour genesis. These ominous findings required urgent treatment to halt the crises of rapid leukemic cell proliferation. Mark hypophosphatemia and hypokalemia may be presenting electrolyte abnormalities in a patient with acute leukaemia, and these may be indicators of aggressive tumour genesis. What is known: • Mild electrolyte disturbances are common in oncology patients • Tumour lysis syndrome is well recognized by paediatriaticians What is new: • Life-threatening hypophosphatemia is an uncommon presentation • These electrolytes disorders may indicate an aggressive tumour genesis process even at presentation and require urgent treatment.
Ross, Judith L.; Zeger, Martha P.D.; Kushner, Harvey; Zinn, Andrew R.; Roeltgen, David P.
Objective The goal of this study was to contrast the cognitive phenotypes in boys with 47,XYY (XYY) karyotype and boys with 47,XXY karyotype (Klinefelter syndrome, KS), who share an extra copy of the X-Y pseudoautosomal region but differ in their dosage of strictly sex-linked genes. Methods Neuropsychological evaluation of general cognitive ability, language, memory, attention, visual-spatial abilities, visual-motor skills, and motor function. Results Study cohort: 21 boys with 47,XYY and 93 boys with 47,XXY (KS), ages 4-17 years, and 36 age-matched control boys. Both the XYY and KS groups performed less well, on average, than the controls on tests of general cognitive ability, achievement, language, verbal memory, some aspects of attention and executive function, and motor function. The boys with XYY on average had more severe and pervasive language impairment, at both simple and complex levels, and the boys with KS on average had greater motor impairment in gross motor function and coordination, especially in running speed and agility. Conclusions The results from these large XYY and KS cohorts have important neurocognitive and educational implications. From the neurocognitive standpoint, the presenting findings afford an opportunity to gain insights into brain development in boys with XYY and those with KS. From the educational standpoint, it is critical that boys with XYY or KS receive appropriate educational interventions that target their specific learning challenges. These findings also provide important information for counseling clinicians and families about these disorders. PMID:20014371
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Grazel, Regina; Phalen, Ann Gibbons; Polomano, Rosemary C
There is a direct relationship between nonsupine sleeping and sudden infant death syndrome (SIDS). Premature infants are at greater risk for SIDS and are often cared for in nonsupine positions during the course of hospitalization. Healthy premature infants should be placed supine for sleep before discharge from the neonatal intensive care unit (NICU), and parents receive specific instruction about infant sleep position and other risk factors for SIDS. Most published literature addressing nursing practices for SIDS reduction reflects practices with the healthy newborn population. To examine and describe NICU nurses' knowledge of SIDS risk-reduction measures, modeling of safe infant sleep interventions prior to discharge, and inclusion of SIDS risk reduction in parent education. Convenience sample of nurses practicing in level II and III NICUs located in 2 Middle Atlantic States. A prospective survey design was used for the study. The 14-item questionnaire was developed by a team of neonatal clinical experts and distributed via site coordinators to nurses in 19 NICUs. A total of 1080 surveys were distributed and 430 (40%) NICU nurses completed the survey. The majority of nurses (85%) identified the American Academy of Pediatrics SIDS risk-reduction strategies for safe sleep. The investigators found that age, years of nursing and neonatal nursing experience, and educational preparation did not significantly contribute to the practice of "supine-only" position for sleep for infants in NICUs. The study revealed that nurses frequently position healthy preterm infants supine for sleep when weaned to an open crib (50%). Others wait one to a few days before discharge (15%) and some never position supine for sleep (6%). Stuffed toys are removed from cribs 90.5% of the time. For term infants without major medical complications, 45.5% of surveyed nurses continued to use positioning aids/rolls in infants' cribs. The most common reasons nurses cited to position preterm infants
Cheng, Jianding; Kyle, John W; Lang, Di; Wiedmeyer, Brandi; Guo, Jian; Yin, Kun; Huang, Lei; Vaidyanathan, Ravi; Su, Terry; Makielski, Jonathan C
We have identified the cardiomyopathy-susceptibility gene vinculin ( VCL ) mutation M94I may account for a sudden unexplained nocturnal death syndrome (SUNDS) case. We addressed whether VCL common variant D841H is associated with SUNDS. In 8 of 120 SUNDS cases, we detected an East Asian common VCL variant p.Asp841His (D841H). Comparing the H841 allele frequency of the general population in the local database (15 of 1818) with SUNDS victims (10 of 240) gives an odds ratio for SUNDS of 5.226 (95% CI, 2.321, 11.769). The VCL-D841H variant was engineered and either coexpressed with cardiac sodium channel (SCN5A) in HEK293 cells or overexpressed in human induced pluripotent stem-cell-derived cardiomyocytes to examine its effects on sodium channel function using the whole-cell patch-clamp method. In HEK293 cells, under physiological pH conditions (pH 7.4), D841H caused a 29% decrease in peak I N a amplitude compared to wild type (WT), whereas under acidotic conditions (pH 7.0), D841H decreased further to 43% along with significant negative shift in inactivation compared to WT at pH 7.4. In induced pluripotent stem-cell-derived cardiomyocytes, similar effects of D841H on I N a were observed. VCL colocalized with SCN5A at the intercalated disk in human cardiomyocytes. VCL was also confirmed to directly interact with SCN5A, and VCL-D841H did not disrupt the association of VCL and SCN5A. A VCL common variant was genetically and biophysically associated with Chinese SUNDS. The aggravation of loss of function of SCN5A caused by VCL-D841H under acidosis supports that nocturnal sleep respiratory disorders with acidosis may play a key role in the pathogenesis of SUNDS. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.
Anderson, Robert N; Smith, Betty L
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.
Heron, Melonie P; Smith, Betty L
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.
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.
Chen, Fangfang; Shan, Xiaoyi; Cheng, Hong; Hou, Dongqing; Zhao, Xiaoyuan; Wang, Tianyou; Zhao, Di
Data about metabolic syndrome (MetS) in children is limited in China. We aimed to assess the prevalence of MetS related components, and their association with obesity. Data were collected as part of a representative study on MetS among 19593 children, aged 6–18 years old in Beijing. General obesity was assessed by body mass index (BMI) and central obesity by waist circumference. Finger capillary blood tests were used to assess triglyceride (TG), total cholesterol (TC) and impaired fasting glucose (IFG). Vein blood samples were collected from a subsample of 3814 children aged 10–18 years to classify MetS. MetS was defined according to the International Diabetes Federation 2007 definition. The associations between MetS related components and the degree and type of obesity were tested using logistic regression models. The prevalence of overweight, obesity, high blood pressure, elevated TG, TC and IFG were13.6%, 5.8%, 8.5%, 8.8%, 1.2% and 2.5%, respectively. Compared with normal weight children, overweight and obese children were more likely to have other MetS related components. In the subsample of 3814 children aged 10–18 years, the prevalence of MetS was much higher in obese subjects than in their normal weight counterparts (27.6% vs. 0.2%). Children with both general and central obesity had the highest prevalence of MetS. Compared with normal weight children, overweight and obese children were more likely to have MetS (overweight: OR = 67.33, 95%CI = 21.32–212.61; obesity: OR = 249.99, 95% CI = 79.51–785.98). Prevalence of MetS related components has reached high level among Beijing children who were overweight or obese. The association between metabolic disorders and obesity was strong. PMID:23082159
Sakurai, Takeshi; Ramoz, Nicolas; Barreto, Marta; Gazdoiu, Mihaela; Takahashi, Nagahide; Gertner, Michael; Dorr, Nathan; Gama Sosa, Miguel A; De Gasperi, Rita; Perez, Gissel; Schmeidler, James; Mitropoulou, Vivian; Le, H Carl; Lupu, Mihaela; Hof, Patrick R; Elder, Gregory A; Buxbaum, Joseph D
SLC25A12, a susceptibility gene for autism spectrum disorders that is mutated in a neurodevelopmental syndrome, encodes a mitochondrial aspartate-glutamate carrier (aspartate-glutamate carrier isoform 1 [AGC1]). AGC1 is an important component of the malate/aspartate shuttle, a crucial system supporting oxidative phosphorylation and adenosine triphosphate production. We characterized mice with a disruption of the Slc25a12 gene, followed by confirmatory in vitro studies. Slc25a12-knockout mice, which showed no AGC1 by immunoblotting, were born normally but displayed delayed development and died around 3 weeks after birth. In postnatal day 13 to 14 knockout brains, the brains were smaller with no obvious alteration in gross structure. However, we found a reduction in myelin basic protein (MBP)-positive fibers, consistent with a previous report. Furthermore, the neocortex of knockout mice contained abnormal neurofilamentous accumulations in neurons, suggesting defective axonal transport and/or neurodegeneration. Slice cultures prepared from knockout mice also showed a myelination defect, and reduction of Slc25a12 in rat primary oligodendrocytes led to a cell-autonomous reduction in MBP expression. Myelin deficits in slice cultures from knockout mice could be reversed by administration of pyruvate, indicating that reduction in AGC1 activity leads to reduced production of aspartate/N-acetylaspartate and/or alterations in the dihydronicotinamide adenine dinucleotide/nicotinamide adenine dinucleotide(+) ratio, resulting in myelin defects. Our data implicate AGC1 activity in myelination and in neuronal structure and indicate that while loss of AGC1 leads to hypomyelination and neuronal changes, subtle alterations in AGC1 expression could affect brain development, contributing to increased autism susceptibility. Copyright 2010 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
Haqq, Andrea M; Muehlbauer, Michael J; Newgard, Christopher B; Grambow, Steven; Freemark, Michael
Insulin sensitivity is higher in patients with Prader-Willi syndrome (PWS) than in body mass index-matched obese controls (OCs). Factors contributing to the heightened insulin sensitivity of PWS remain obscure. We compared the fasting levels of various hormones, cytokines, lipids, and liver function tests in 14 PWS patients and 14 OCs with those in 14 age- and gender-matched lean children (LC). We hypothesized that metabolic profiles of children with PWS are comparable with those of LC, but different from those of OCs. Leptin levels were comparable in PWS patients and OCs, suggesting comparable degrees of adiposity. Glucose levels were comparable among groups. However, fasting insulin concentrations and homeostasis model assessment insulin resistance index were lower in PWS patients than in OCs (P < 0.05) and similar to LC. Moreover, high-density lipoprotein levels were lower and triglycerides higher in OCs (P < 0.05) but not PWS patients. Total adiponectin, high-molecular-weight (HMW) adiponectin and the HMW to total adiponectin ratio were higher in PWS patients (P < 0.05) than in OCs and similar to LC. High-sensitivity C-reactive protein and IL-6 levels were higher in OCs than in PWS patients or LC (P < 0.05). Nevertheless, PAI-1 levels were elevated in both OC and PWS patients. There were no group differences in glucagon-like peptide-1, macrophage chemoattractant protein-1, TNFα, IL-2, IL-8, IL-10, IL-12p40, IL-18, resistin, total or low-density lipoprotein cholesterol, aspartate aminotransferase, or alanine aminotransferase. The heightened insulin sensitivity of PWS patients relative to OCs is associated with higher levels of adiponectin and lower levels of high-sensitivity C-reactive protein and IL-6. Future studies will determine whether PWS children are protected from obesity comorbidities such as type 2 diabetes, hyperlipidemia, and nonalcoholic fatty liver disease.
Bret, P; Chazal, J
"Normal pressure" hydrocephalus (NPH) is generally considered to be a disorder of the adult and geriatric population. Only a few reports have described the possible occurrence of this condition in children. A series of 16 patients aged less than 20 years forms the basis of the present report. Among these 16 patients, 11 had a clearly identified etiologic factor and 7 had had a shunt previously implanted. The majority of patients exhibited at least two elements of the adult's triad of psychomotor retardation (14 cases) and/or psychotic-like symptoms (4 cases), gait anomalies (8 cases), and sphincter disturbances (3 cases). Six patients had their intracranial pressure (ICP) monitored. ICP values were estimated to be within the normal limits for age. All the 16 patients underwent shunting or shunt revision. Surgical results were as follows (mean follow-up 20 +/- 17.2 months): a good response to shunting was obtained in 12 cases ("cured": 5, improved: 7), while the other 4 patients failed to improve. It seems likely that associated parenchymal disorders have played a major role in therapeutic failures. In children showing ventricular dilation on computed tomographic (CT) analysis and a clinical picture of subtle psychomotor deterioration, it may be difficult to distinguish an active disorder of the CSF dynamics from "arrested hydrocephalus." Since intracranial manometry cannot be undertaken as a routine procedure, less invasive methods such as cerebrospinal fluid (CSF) tap test, psychometric, or urodynamic tests deserve special attention as reliable predictors of outcome after shunting. Because most patients undergo shunting without prior assessment of their CSF pressure, the term "chronic hydrocephalus" is proposed as an alternative designation to "NPH," since there is little argument for maintaining an instrumentally based definition of the syndrome.
... 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 ...
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…
Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors.
Ito, Tetsuhide; Igarashi, Hisato; Uehara, Hirotsugu; Berna, Marc J; Jensen, Robert T
Multiple endocrine neoplasia type 1 (MEN1) is classically characterized by the development of functional or nonfunctional hyperplasia or tumors in endocrine tissues (parathyroid, pancreas, pituitary, adrenal). Because effective treatments have been developed for the hormone excess state, which was a major cause of death in these patients in the past, coupled with the recognition that nonendocrine tumors increasingly develop late in the disease course, the natural history of the disease has changed. An understanding of the current causes of death is important to tailor treatment for these patients and to help identify prognostic factors; however, it is generally lacking.To add to our understanding, we conducted a detailed analysis of the causes of death and prognostic factors from a prospective long-term National Institutes of Health (NIH) study of 106 MEN1 patients with pancreatic endocrine tumors with Zollinger-Ellison syndrome (MEN1/ZES patients) and compared our results to those from the pooled literature data of 227 patients with MEN1 with pancreatic endocrine tumors (MEN1/PET patients) reported in case reports or small series, and to 1386 patients reported in large MEN1 literature series. In the NIH series over a mean follow-up of 24.5 years, 24 (23%) patients died (14 MEN1-related and 10 non-MEN1-related deaths). Comparing the causes of death with the results from the 227 patients in the pooled literature series, we found that no patients died of acute complications due to acid hypersecretion, and 8%-14% died of other hormone excess causes, which is similar to the results in 10 large MEN1 literature series published since 1995. In the 2 series (the NIH and pooled literature series), two-thirds of patients died from an MEN1-related cause and one-third from a non-MEN1-related cause, which agrees with the mean values reported in 10 large MEN1 series in the literature, although in the literature the causes of death varied widely. In the NIH and pooled literature
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
Kiess, W; Galler, A; Reich, A; Müller, G; Kapellen, T; Deutscher, J; Raile, K; Kratzsch, J
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
Ashrafi, Farzad; Pakdaman, Hossein; Arabahmadi, Mehran; Behnam, Behdad
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.
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
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.
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
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
... Safe Videos for Educators Search English Español Childhood Stress KidsHealth / For Parents / Childhood Stress What's in this ... and feel stress to some degree. Sources of Stress Stress is a function of the demands placed ...
Monaghan, Sean F; Chung, Chun-Shiang; Chen, Yaping; Lomas-Neira, Joanne; Fairbrother, William G; Heffernan, Daithi S; Cioffi, William G; Ayala, Alfred
Acute respiratory distress syndrome (ARDS) remains a common organ dysfunction in the critically ill patient. Mechanisms for its development have focused on immune mediated causes, aspects of our understanding are not complete, and we lack biomarkers. Blood and bronchial alveolar lavage fluid (BAL) from humans (n = 10-13) with ARDS and controls (n = 5-10) as well as a murine model of ARDS (n = 5-6) with controls (n = 6-7) were studied. ARDS was induced in mice by hemorrhagic shock (day 1) followed by poly-microbial sepsis (day 2). Samples were then collected on the third day after the animals were euthanized. Ex vivo experiments used splenocytes from animals with ARDS cultured with and without soluble programmed death receptor-1 (sPD-1). Levels of sPD-1 are increased in both the serum (11,429.3 pg/mL(SD 2133.3) vs. 8061.4(SD 4187.8), p = 0.036) and bronchial alveolar lavage (BAL) fluid (6,311.1 pg/mL(SD 3758.0) vs. 90.7 pg/mL(SD 202.8), p = 0.002) of humans with ARDS. Similar results are seen in the serum (9396.1 pg/mL(SD 1546.0) vs. 3464.5 pg/mL(SD 2511.8), p = 0.001) and BAL fluid (2891.7 pg/mL(SD 868.1) vs. 1385.9 pg/mL(SD 927.8), p = 0.012) of mice. sPD-1 levels in murine blood (AUC = 1(1-1), p = 0.006), murine BAL fluid (AUC = 0.905(0.717-1.093), p = 0.015), and human BAL (AUC = 1(1-1), p = 0.001) fluid predicted ARDS. To assess the importance of sPD-1 in ARDS, ex vivo experiments were undertaken. BAL fluid from mice with ARDS dampens the TNF-α production compared to cells cultured with BAL lacking sPD-1 (2.7 pg/mL(SD 3.8) vs. 52.38 pg/mL(SD 25.1), p = 0.002). This suggests sPD-1 is elevated in critical illness and may represent a potential biomarker for ARDS. In addition, sPD-1 has an anti-inflammatory mechanism in conditions of marked stress and aids in the resolution of severe inflammation. sPD-1 could be used to not only diagnose ARDS, but may be a potential therapy.
Toksvang, Linea Natalie; De Pietri, Silvia; Nielsen, Stine N; Nersting, Jacob; Albertsen, Birgitte K; Wehner, Peder S; Rosthøj, Steen; Lähteenmäki, Päivi M; Nilsson, Daniel; Nystad, Tove A; Grell, Kathrine; Frandsen, Thomas L; Schmiegelow, Kjeld
Hepatic sinusoidal obstruction syndrome (SOS) during treatment of childhood acute lymphoblastic leukemia (ALL) has mainly been associated with 6-thioguanine. The occurrence of several SOS cases after the introduction of extended pegylated asparaginase (PEG-asparaginase) therapy in the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL2008 protocol led us to hypothesize that PEG-asparaginase, combined with other drugs, may trigger SOS during 6-thioguanine-free maintenance therapy. In children with ALL treated in Denmark according to the NOPHO ALL2008 protocol, we investigated the risk of SOS during methotrexate (MTX)/6-mercaptopurine (6MP) maintenance therapy that included PEG-asparaginase until week 33 (randomized to two- vs. six-week intervals), as well as alternating high-dose MTX or vincristine/dexamethasone pulses every four weeks. Among 130 children receiving PEG-asparaginase biweekly, 29 developed SOS (≥2 criteria: hyperbilirubinemia, hepatomegaly, ascites, weight gain ≥2.5%, unexplained thrombocytopenia <75 × 10 9 l -1 ) at a median of 30 days (interquartile range [IQR]: 17-66) into maintenance (cumulative incidence: 27%). SOS cases fulfilling one, two, or three Ponte di Legno criteria were classified as possible (n = 2), probable (n = 8), or verified (n = 19) SOS, respectively. Twenty-six cases (90%) occurred during PEG-asparaginase treatment, including 21 (81%) within 14 days from the last chemotherapy pulse compared with the subsequent 14 days (P = 0.0025). Cytotoxic 6MP metabolites were significantly higher on PEG-asparaginase compared to after its discontinuation. Time-dependent Cox regression analysis showed increased SOS hazard ratio (HR) for erythrocyte levels of methylated 6MP metabolites (HR: 1.09 per 1,000 nmol/mmol hemoglobin increase, 95% confidence interval: 1.05-1.14). Six-week PEG-asparaginase intervals significantly reduced SOS-specific hazards (P < 0.01). PEG-asparaginase increases cytotoxic 6MP metabolite levels and
Asarnow, Joan Rosenbaum; Tompson, Martha C.; McGrath, Emily P.
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…
Heron, Melonie; Tejada-Vera, Betzaida
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.
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
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.
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.
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.
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
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…
Value of Combining Left Atrial Diameter and Amino-terminal Pro-brain Natriuretic Peptide to the CHA2DS2-VASc Score for Predicting Stroke and Death in Patients with Sick Sinus Syndrome after Pacemaker Implantation.
Mo, Bin-Feng; Lu, Qiu-Fen; Lu, Shang-Biao; Xie, Yu-Quan; Feng, Xiang-Fei; Li, Yi-Gang
The CHA2DS2-VASc score is used clinically for stroke risk stratification in patients with atrial fibrillation (AF). We sought to investigate whether the CHA2DS2-VASc score predicts stroke and death in Chinese patients with sick sinus syndrome (SSS) after pacemaker implantation and to evaluate whether the predictive power of the CHA2DS2-VASc score could be improved by combining it with left atrial diameter (LAD) and amino-terminal pro-brain natriuretic peptide (NT-proBNP). A total of 481 consecutive patients with SSS who underwent pacemaker implantation from January 2004 to December 2014 in our department were included. The CHA2DS2-VASc scores were retrospectively calculated according to the hospital medical records before pacemaker implantation. The outcome data (stroke and death) were collected by pacemaker follow-up visits and telephonic follow-up until December 31, 2015. During 2151 person-years of follow-up, 46 patients (9.6%) suffered stroke and 52 (10.8%) died. The CHA2DS2-VASc score showed a significant association with the development of stroke (hazard ratio [HR] 1.45, 95% confidence interval [CI] 1.20-1.75, P< 0.001) and death (HR 1.45, 95% CI 1.22-1.71, P< 0.001). The combination of increased LAD and the CHA2DS2-VASc score improved the predictive power for stroke (C-stat 0.69, 95% CI 0.61-0.77 vs. C-stat 0.66, 95% CI 0.57-0.74, P= 0.013), and the combination of increased NT-proBNP and the CHA2DS2-VASc score improved the predictive power for death (C-stat 0.70, 95% CI 0.64-0.77 vs. C-stat 0.67, 95% CI 0.60--0.75, P= 0.023). CHA2DS2-VASc score is valuable for predicting stroke and death risk in patients with SSS after pacemaker implantation. The addition of LAD and NT-proBNP to the CHA2DS2-VASc score improved its predictive power for stroke and death, respectively, in this patient cohort. Future prospective studies are warranted to validate the benefit of adding LAD and NT-proBNP to the CHA2DS2-VASc score for predicting stroke and death risk in non
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
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.
Jenkins, Helen E
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.
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
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.
Shefer, A M; Koo, D; Werner, S B; Mintz, E D; Baron, R; Wells, J G; Barrett, T J; Ginsberg, M; Bryant, R; Abbott, S; Griffin, P M
In mid-January 1993, an outbreak of Escherichia coli O157:H7 infections associated with eating hamburger patties at a fast-food restaurant chain (chain A) was reported in Washington State. From mid-December to mid-January, 9 cases of E coli O157:H7-associated bloody diarrhea and the hemolytic-uremic syndrome had been reported in San Diego County, California. A total of 34 persons had bloody diarrhea, the hemolytic-uremic syndrome, or E coli O157:H7 organisms isolated from stool during the period November 15, 1992, through January 31, 1993. Organisms of E coli O157:H7 identified from 6 persons were indistinguishable from those of the Washington outbreak strain. Illness was associated with eating at chain A restaurants in San Diego (odds ratio, 13; 95% confidence interval, 1.7, 99) and with eating regular-sized hamburgers (odds ratio, undefined; lower-limit 95% confidence interval, 1.3). Improved surveillance by mandating laboratory- and physician-based reporting of cases of E coli O157:H7 infection and the hemolytic-uremic syndrome might have alerted health officials to this outbreak sooner, which could have resulted in earlier investigation and the institution of measures to prevent more cases. Images Figure 1. PMID:8855679
Núñez-Enríquez, J C; Fajardo-Gutiérrez, A; Buchán-Durán, E P; Bernáldez-Ríos, R; Medina-Sansón, A; Jiménez-Hernández, E; Amador-Sanchez, R; Peñaloza-Gonzalez, J G; Paredes-Aguilera, R; Alvarez-Rodriguez, F J; Bolea-Murga, V; de Diego Flores-Chapa, J; Flores-Lujano, J; Bekker-Mendez, V C; Rivera-Luna, R; del Carmen Rodriguez-Zepeda, M; Rangel-López, A; Dorantes-Acosta, E M; Núñez-Villegas, N; Velazquez-Aviña, M M; Torres-Nava, J R; Reyes-Zepeda, N C; Cárdenas-Cardos, R; Flores-Villegas, L V; Martinez-Avalos, A; Salamanca-Gómez, F; Gorodezky, C; Arellano-Galindo, J; Mejía-Aranguré, J M
Background: Allergies have been described as protective factors against the development of childhood acute leukaemia (AL). Our objective was to investigate the associations between allergy history and the development of AL and acute lymphoblastic leukaemia (ALL) in children with Down syndrome (DS). Methods: A case–control study was performed in Mexico City. The cases (n=97) were diagnosed at nine public hospitals, and the controls (n=222) were recruited at institutions for children with DS. Odds ratios (OR) were calculated. Results: Asthma was positively associated with AL development (OR=4.18; 95% confidence interval (CI): 1.47–11.87), whereas skin allergies were negatively associated (OR=0.42; 95% CI: 0.20–0.91). Conclusion: Our findings suggest that allergies and AL in children with DS share biological and immune mechanisms. To our knowledge, this is the first study reporting associations between allergies and AL in children with DS. PMID:23695017
Núñez-Enríquez, J C; Fajardo-Gutiérrez, A; Buchán-Durán, E P; Bernáldez-Ríos, R; Medina-Sansón, A; Jiménez-Hernández, E; Amador-Sanchez, R; Peñaloza-Gonzalez, J G; Paredes-Aguilera, R; Alvarez-Rodriguez, F J; Bolea-Murga, V; de Diego Flores-Chapa, J; Flores-Lujano, J; Bekker-Mendez, V C; Rivera-Luna, R; Del Carmen Rodriguez-Zepeda, M; Rangel-López, A; Dorantes-Acosta, E M; Núñez-Villegas, N; Velazquez-Aviña, M M; Torres-Nava, J R; Reyes-Zepeda, N C; Cárdenas-Cardos, R; Flores-Villegas, L V; Martinez-Avalos, A; Salamanca-Gómez, F; Gorodezky, C; Arellano-Galindo, J; Mejía-Aranguré, J M
Allergies have been described as protective factors against the development of childhood acute leukaemia (AL). Our objective was to investigate the associations between allergy history and the development of AL and acute lymphoblastic leukaemia (ALL) in children with Down syndrome (DS). A case-control study was performed in Mexico City. The cases (n=97) were diagnosed at nine public hospitals, and the controls (n=222) were recruited at institutions for children with DS. Odds ratios (OR) were calculated. Asthma was positively associated with AL development (OR=4.18; 95% confidence interval (CI): 1.47-11.87), whereas skin allergies were negatively associated (OR=0.42; 95% CI: 0.20-0.91). Our findings suggest that allergies and AL in children with DS share biological and immune mechanisms. To our knowledge, this is the first study reporting associations between allergies and AL in children with DS.
Indrieri, Alessia; Conte, Ivan; Chesi, Giancarlo; Romano, Alessia; Quartararo, Jade; Tatè, Rosarita; Ghezzi, Daniele; Zeviani, Massimo; Goffrini, Paola; Ferrero, Ileana; Bovolenta, Paola; Franco, Brunella
Mitochondrial-dependent (intrinsic) programmed cell death (PCD) is an essential homoeostatic mechanism that selects bioenergetically proficient cells suitable for tissue/organ development. However, the link between mitochondrial dysfunction, intrinsic apoptosis and developmental anomalies has not been demonstrated to date. Now we provide the evidence that non-canonical mitochondrial-dependent apoptosis explains the phenotype of microphthalmia with linear skin lesions (MLS), an X-linked developmental disorder caused by mutations in the holo-cytochrome c-type synthase (HCCS) gene. By taking advantage of a medaka model that recapitulates the MLS phenotype we demonstrate that downregulation of hccs, an essential player of the mitochondrial respiratory chain (MRC), causes increased cell death via an apoptosome-independent caspase-9 activation in brain and eyes. We also show that the unconventional activation of caspase-9 occurs in the mitochondria and is triggered by MRC impairment and overproduction of reactive oxygen species (ROS). We thus propose that HCCS plays a key role in central nervous system (CNS) development by modulating a novel non-canonical start-up of cell death and provide the first experimental evidence for a mechanistic link between mitochondrial dysfunction, intrinsic apoptosis and developmental disorders. PMID:23239471
Taylor, Isabella; Berkovic, Samuel F.; Kivity, Sara; Scheffer, Ingrid E.
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…
The effect of maternal smoking and drinking during pregnancy upon (3)H-nicotine receptor brainstem binding in infants dying of the sudden infant death syndrome: initial observations in a high risk population.
Duncan, Jhodie R; Randall, Leslie L; Belliveau, Richard A; Trachtenberg, Felicia L; Randall, Bradley; Habbe, Donald; Mandell, Federick; Welty, Thomas K; Iyasu, Solomon; Kinney, Hannah C
The high rate of the sudden infant death syndrome (SIDS) in American Indians in the Northern Plains (3.5/1000) may reflect the high incidence of cigarette smoking and alcohol consumption during pregnancy. Nicotine, a neurotoxic component of cigarettes, and alcohol adversely affect nicotinic receptor binding and subsequent cholinergic development in animals. We measured (3)H-nicotine receptor binding in 16 brainstem nuclei in American Indian SIDS (n = 27) and controls (n = 6). In five nuclei related to cardiorespiratory control, (3)H-nicotinic binding decreased with increasing number of drinks (P < 0.03). There were no differences in binding in SIDS compared with controls, except upon stratification of prenatal exposures. In three mesopontine nuclei critical for arousal there were reductions (P < 0.04) in binding in controls exposed to cigarette smoke compared with controls without exposure; there was no difference between SIDS cases with or without exposure. This study suggests that maternal smoking and alcohol affects (3)H-nicotinic binding in the infant brainstem irrespective of the cause of death. It also suggests that SIDS cases are unable to respond to maternal smoking with the "normal" reduction seen in controls. Future studies are needed to establish the role of adverse prenatal exposures in altered brainstem neurochemistry in SIDS.
Sharma, Ramesh Chander; Mahajan, Vikram; Sharma, Nand Lal; Sharma, Ashok K
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.
... 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): ...
... 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. ...
Petropoulos, Andreas; Ehringer-Schetitska, Doris; Fritsch, Peter; Jokinen, Eero; Dalla Pozza, Robert; Oberhoffer, Renate
The burden of cardiac disease in childhood is unknown. It will be a sum of 1% of living births in the general population, suffering from Congenital Heart Disease (CHD) + approximately 2.5% of the general population suffering from bicuspid aortic valve diseases + an unknown higher prevalence of acquired diseases. Cardiomyopathies, arrhythmias - sudden cardiac death (SCD), rheumatic heard disease, hypertension and accelerating atherosclerosis are among the most frequent. Adding on, genetic syndromes including cardiac defects, endocarditis and myocarditis we can address a large pediatric population worldwide, suffering from heart disease. Diagnosis and treatment of these diseases are not afforded in many countries worldwide due to luck of human and material resources. The aim of this paper is to describe how some of the above mentioned diseases can be either early detected or prevented. The working Group "Cardiovascular Prevention" of the Association of European Pediatric and Congenital Cardiology (AEPC) focused on some forms of them since its formation in 2011. These areas are: 1) some forms of critical CHD, 2) sudden cardiac death linked to sport activities and 3) detecting- preventing cardio vascular diseases CVD in the young. Methods-Populations: Measurements of pre and post ductal saturation of oxygen using pulse oximeters, after the first day from birth, can early and cheaply detect critical Ductal Arteriosus dependent pulmonary or systemic and cyanotic CHD, saving lives and decreasing significantly the cost of medical care. This screening test can be applied to all neonates as late as possible after their birth and before released to their homes. A combination of detailed medical history, physical examination and 12 lead ECG, during a pre-participation in sport activities medical screening test can prevent SCD, related to a variety of nosology. This combined screening test can be applied to all children before they are exposed to school or leisure sport
Ward, Christopher S; Huang, Teng-Wei; Herrera, José A; Samaco, Rodney C; Pitcher, Meagan R; Herron, Alan; Skinner, Steven A; Kaufmann, Walter E; Glaze, Daniel G; Percy, Alan K; Neul, Jeffrey L
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized.
Ward, Christopher S.; Huang, Teng-Wei; Herrera, José A.; Samaco, Rodney C.; Pitcher, Meagan R.; Herron, Alan; Skinner, Steven A.; Kaufmann, Walter E.; Glaze, Daniel G.; Percy, Alan K.; Neul, Jeffrey L.
Rett Syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills during development, autonomic dysfunction, and an increased risk for premature lethality. Clinical experience identified a subset of individuals with RTT that present with urological dysfunction including individuals with frequent urinary tract infections, kidney stones, and urine retention requiring frequent catheterization for bladder voiding. To determine if urologic dysfunction is a feature of RTT, we queried the Rett Syndrome Natural History Study, a repository of clinical data from over 1000 individuals with RTT and found multiple instances of urological dysfunction. We then evaluated urological function in a mouse model of RTT and found an abnormal pattern of micturition. Both male and female mice possessing Mecp2 mutations show a decrease in urine output per micturition event. Furthermore, we identified signs of kidney failure secondary to urethral obstruction. Although genetic strain background significantly affects both survival and penetrance of the urethral obstruction phenotype, survival and penetrance of urethral obstruction do not directly correlate. We have identified an additional phenotype caused by loss of MeCP2, urological dysfunction. Furthermore, we urge caution in the interpretation of survival data as an endpoint in preclinical studies, especially where causes of mortality are poorly characterized. PMID:27828991
Zakrzewski, Maciej; Wojtak, Jerzy; Mazurkiewicz, Hanna; Grygalewicz, Jacek
To establish the occurrence of SIDS risk factors (including 'removable' ones) and the incidence of the ecg long QT interval (accepted as a risk factor) and their influence upon infants development and morbidity. A group of 98 infants from normal birth at term to the end of first year of life was observed. The data sources were as follows: 1) a questionnaire filled by mothers before discharge front maternity ward, 2) records of four consecutive medical examinations (including ecg records) performed on 3rd day and 3rd, 6th and 12th month of life. Chi-Square test and Fisher test were used. The most often identified risk factors were: prone sleeping position of infant (60.2%), environmental and maternal tobacco smoking (40.8%) and bed sharing practices (32.6%). A significant but transient signs of delay in psychomotor development (in motor zone) as well as more frequent respiratory tract infections in infants sleeping prone were noted. There were no deaths in the observed group neither cases of long QT interval. 1) the most frequently occurring SIDS risk factors are: environmental tobacco smoking, infant prone sleeping and bed sharing, 2) these inappropriate nursing practices and improper habits of adult family members known as a 'removable' SIDS risk factors have a bad effect on infant health and development, 3) identification of SIDS risk factors in an infant does not predict crib death.
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
Brown, Brande; Agdere, Levon; Muntean, Cornelia; David, Karen
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
Rudd, Rebecca A; D'Andrea, Livia M
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.
Leukemia is cancer of the white blood cells. It is the most common type of childhood cancer. ... blood cells help your body fight infection. In leukemia, the bone marrow produces abnormal white blood cells. ...
... away if this happens. Alternative Names Childhood ... In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 330. ...
... In A Medical Emergency Childhood Emergencies Careers in Emergency Medicine Seconds Save Lives Be Prepared Safe Citizen Day ... case report was reported online in Annals of Emergency Medicine. More Than 200,000 Kids Treated in ERs ...
Smith, Nicholas; Pereira, John; Grattan-Smith, Padraic
To review the role of gadolinium-enhanced magnetic resonance imaging of the spine in the diagnosis of paediatric Guillain-Barre syndrome and compare it with nerve conduction studies and cerebrospinal fluid analysis. A retrospective review of investigations undertaken in children admitted to our institution with acute Guillain-Barre syndrome over a 10-year period was performed. Seven of eight children (88%) displayed post-gadolinium nerve root enhancement consistent with Guillain-Barre syndrome. This compared with supportive nerve conduction studies in 21/24 children (88%) and cerebrospinal fluid protein analysis consistent with the diagnosis in 16/20 children (80%). Nerve conduction studies are the recognised 'gold standard' technique for confirming a clinical diagnosis of Guillain-Barre syndrome. In this study, a high positive rate was demonstrated. While more experience is necessary, this study and the literature support gadolinium enhanced magnetic resonance imaging of the spine as a valuable, although not necessarily superior, investigation in the diagnosis of Guillain-Barre syndrome. It may be of particular benefit when specialist neurophysiology expertise is unavailable. © 2010 The Authors. Journal compilation © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians).
Boggon, Rachael; van Staa, Tjeerd P; Timmis, Adam; Hemingway, Harry; Ray, Kausik K; Begg, Alan; Emmas, Cathy; Fox, Keith A A
Adherence to evidence-based treatments and its consequences after acute myocardial infarction (MI) are poorly defined. We examined the extent to which clopidogrel treatment initiated in hospital is continued in primary care; the factors predictive of clopidogrel discontinuation and the hazard of death or recurrent MI. We linked the Myocardial Ischaemia National Audit Project registry and the General Practice Research Database to examine adherence to clopidogrel in primary care among patients discharged from hospital after MI (2003-2009). Hospital Episode Statistics and national mortality data were linked, documenting all-cause mortality and non-fatal MI. Of the 7543 linked patients, 4650 were prescribed clopidogrel in primary care within 3 months of discharge. The adjusted odds of still being prescribed clopidogrel at 12 months were similar following non-ST-elevation myocardial infarction (NSTEMI) 53% (95% CI, 51-55) and ST-elevation myocardial infarction (STEMI) 54% (95% CI, 52-56), but contrast with statins: NSTEMI 84% (95% CI, 82-85) and STEMI 89% (95% CI, 87-90). Discontinuation within 12 months was more frequent in older patients [>80 vs. 40-49 years, adjusted hazard ratio (HR) 1.50 (95% CI, 1.15-1.94)] and with bleeding events [HR 1.34 (95% CI, 1.03-1.73)]. 18.15 patients per 100 person-years (95% CI, 16.83-19.58) died or experienced non-fatal MI in the first year following discharge. In patients who discontinued clopidogrel within 12 months, the adjusted HR for death or non-fatal MI was 1.45 (95% CI, 1.22-1.73) compared with untreated patients, and 2.62 (95% CI, 2.17-3.17) compared with patients persisting with clopidogrel treatment. This is the first study to use linked registries to determine persistence of clopidogrel treatment after MI in primary care. It demonstrates that discontinuation is common and associated with adverse outcomes.
Johnson, H R
Over a period of 22 years, a number of needless deaths have been investigated in this institution following diagnostic and therapeutic procedures. These include fatalities associated with endoscopic examination and biopsies, complications in relation to indwelling tubes and radiological examinations. It is important that these catastrophies must be fully investigated. In this regard, it is essential to ensure that informed consent has been obtained, that an experienced independent pathologist conduct the investigations and that every effort must be made to get at the truth.
Asmundo, A; Aragona, M; Gualniera, P; Aragona, F
The sudden death by hypoglycemia is an aspect of the forensic pathology frequently neglected. Authors initially described the pathogenesis of different hypoglycemia forms, distinguishing the primary ones due to hyperinsulinism and the secondary ones due to functional insufficiency of other organs (hypophysis, thyroid, adrenal gland, liver); after that Authors described three cases of sudden death induced hypoglycemia by hyperinsulinism: two were unweaned with nesidioblastosis and one adolescent. In any form of hypoglycemia the central nervous system damage is present with evident neuronal degenerative-necrotic phenomena, widespread edema with microhemorrhage, swollen and dissociation of myelin sheath, glial cells hyperplasia. Death caused by primary hypoglycemia is histopathologically different from the secondary one because of the maintenance of hepatic glycogen content in the former, that increase in striated muscles, including the heart, in spite of the constant secretion of catecholamine from the adrenal medulla. Glycogen is depleted in secondary hypoglycemia. In the primary form, behind the adrenal medulla hyperfunction, the increased functional activity of the adrenal cortex is moderate, contrasting with the seriousness of the syndrome, due prevalently to inhibit the gluconeogenesis response conditioned by the persistence of stored glycogen in the liver, heart and striated muscles. The rare anoxic processes coming with resynthesis of hepatic glycogen have to be considered in the differential diagnosis. The primary hypoglycemic death, especially in unweaned, is frequently promoted by other processes inducing hypoxia (fetal asphyxia outcome, pneumonia, etc.) or worsening the hypoglycemia (hypothyroidism, etc.). The secondary hypoglycemias are characterized by the normality of exocrine pancreas and by organic alterations that cause glycogen depletion from the liver.
Boggon, Rachael; van Staa, Tjeerd P.; Timmis, Adam; Hemingway, Harry; Ray, Kausik K.; Begg, Alan; Emmas, Cathy; Fox, Keith A.A.
Aims Adherence to evidence-based treatments and its consequences after acute myocardial infarction (MI) are poorly defined. We examined the extent to which clopidogrel treatment initiated in hospital is continued in primary care; the factors predictive of clopidogrel discontinuation and the hazard of death or recurrent MI. Methods and results We linked the Myocardial Ischaemia National Audit Project registry and the General Practice Research Database to examine adherence to clopidogrel in primary care among patients discharged from hospital after MI (2003–2009). Hospital Episode Statistics and national mortality data were linked, documenting all-cause mortality and non-fatal MI. Of the 7543 linked patients, 4650 were prescribed clopidogrel in primary care within 3 months of discharge. The adjusted odds of still being prescribed clopidogrel at 12 months were similar following non-ST-elevation myocardial infarction (NSTEMI) 53% (95% CI, 51–55) and ST-elevation myocardial infarction (STEMI) 54% (95% CI, 52–56), but contrast with statins: NSTEMI 84% (95% CI, 82–85) and STEMI 89% (95% CI, 87–90). Discontinuation within 12 months was more frequent in older patients [>80 vs. 40–49 years, adjusted hazard ratio (HR) 1.50 (95% CI, 1.15–1.94)] and with bleeding events [HR 1.34 (95% CI, 1.03–1.73)]. 18.15 patients per 100 person-years (95% CI, 16.83–19.58) died or experienced non-fatal MI in the first year following discharge. In patients who discontinued clopidogrel within 12 months, the adjusted HR for death or non-fatal MI was 1.45 (95% CI, 1.22–1.73) compared with untreated patients, and 2.62 (95% CI, 2.17–3.17) compared with patients persisting with clopidogrel treatment. Conclusion This is the first study to use linked registries to determine persistence of clopidogrel treatment after MI in primary care. It demonstrates that discontinuation is common and associated with adverse outcomes. PMID:21875855
Pfannes, Loretta; Chen, Gubin; Shah, Simant; Solomou, Elena E.; Barrett, John; Young, Neal S.
CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) are distinguished from other MDS cells and from normal hematopoietic cells by their pronounced expression of apoptotic markers. Paradoxically, trisomy 8 clones can persist in patients with bone marrow failure and expand following immunosuppression. We previously demonstrated up-regulation of c-myc and CD1 by microarray analysis. Here, we confirmed these findings by real-time polymerase chain reaction (PCR), demonstrated up-regulation of survivin, c-myc, and CD1 protein expression, and documented comparable colony formation by annexin+ trisomy 8− CD34+ and annexin− CD34 cells. There were low levels of DNA degradation in annexin+ trisomy 8 CD34 cells, which were comparable with annexin− CD34 cells. Trisomy 8 cells were resistant to apoptosis induced by gamma irradiation. Knock-down of survivin by siRNA resulted in preferential loss of trisomy 8 cells. These results suggest that trisomy 8 cells undergo incomplete apoptosis and are nonetheless capable of colony formation and growth. PMID:17090657
Jung, Hae Jung; Ju, Hwang Young; Hyun, Myung Chul; Lee, Sang Bum
Purpose The aim of the present study was to evaluate the characteristics of electrophysiologic studies (EPS) and radiofrequency ablation (RFA) performed in subjects aged less than 30 years with Wolff-Parkinson-White (WPW) syndrome, particularly pediatric patients under 18 years of age, based on our experience. Methods Two hundred and one consecutive patients with WPW syndrome were recruited and divided to 3 groups according to age: group 1, 6 to 17 years; group 2, 18 to 29 years; and group 3, 30 to 60 years. The clinical, electrophysiological, and therapeutic data for these patients were evaluated by a retrospective medical record review. Results A total of 73 (36%) of these patients were <30 years of age. Although there were more males than females in group 2 (male:female, 31:11), there was no sex difference in group 1 (male:female, 16:15). Left accessory pathway was detected less frequently in group 1 (32%, 10/31) than in group 2 (57%, 24/42) and group 3 (63%, 81/128) (P=0.023 and P=0.002, respectively). Conclusion The present study describes several different electrophysiological characteristics in children and adolescents with WPW syndrome. Therefore, when EPS and RFA are performed in children and adolescence with WPW syndrome, we recommend that these characteristics be considered. PMID:22323907
Shimoyama, Yuichiro; Umegaki, Osamu; Agui, Tomoyuki; Kadono, Noriko; Minami, Toshiaki
Patients with vascular Ehlers-Danlos syndrome (EDS) are susceptible to significant vascular complications, such as aortic and visceral arterial ruptures, aneurysms, and dissection. We describe a case of repeated bleeding in a 57-year-old woman and a case of sudden onset of artery dissection in her daughter, both of whom were previously diagnosed with vascular EDS and managed at our institution. A 57-year-old woman was admitted to our emergency department due to sudden onset of left low back pain. Her past history included vascular EDS. An urgent abdominal computed tomography (CT) scan revealed a left-sided retroperitoneal hematoma and left external iliac artery dissection. Stent graft repair was performed. Five hours postoperatively, cardiac arrest occurred and resuscitation attempts failed. The 32-year-old daughter with genetically diagnosed vascular EDS was notified of the death of her mother during the customary end-of-life conference. Six hours after her mother's death, she was admitted to our emergency department due to sudden onset of left low back pain. On examination, she was not in hypovolemic shock, and weak pulses were palpable in the bilateral dorsalis pedis. An urgent abdominal CT scan revealed a right-sided retroperitoneal hematoma around the right external iliac artery and left external iliac artery dissection. She was admitted to the intensive care unit and underwent conservative therapy consisting of bed rest and antihypertensive therapy with nicardipine. She developed no further vascular complications requiring surgical intervention and was discharged on the 21st hospital day. Vascular rupture can be fatal in patients with vascular EDS. This report underscores the importance of strategic management of vascular complications to prevent rupture, and the importance of psychological care for the bereaved family given the hereditary nature of vascular EDS.
Yoshikawa, Norishige; Nakanishi, Koichi; Sako, Mayumi; Oba, Mari S; Mori, Rintaro; Ota, Erika; Ishikura, Kenji; Hataya, Hiroshi; Honda, Masataka; Ito, Shuichi; Shima, Yuko; Kaito, Hiroshi; Nozu, Kandai; Nakamura, Hidefumi; Igarashi, Takashi; Ohashi, Yasuo; Iijima, Kazumoto
In this multicenter, open-label, randomized controlled trial, we determined whether 2-month prednisolone therapy for steroid-sensitive nephrotic syndrome was inferior or not to 6-month therapy despite significantly less steroid exposure. The primary end point was time from start of initial treatment to start of frequently relapsing nephrotic syndrome. The pre-specified non-inferiority margin was a hazard ratio of 1.3 with one-sided significance of 5%. We randomly assigned 255 children with an initial episode of steroid-sensitive nephrotic syndrome to either 2 - or 6-month treatment of which 246 were eligible for final analysis. The total prednisolone exposure counted both initial and relapse prednisolone treatment administered over 24 months. Median follow-up in months was 36.7 in the 2-month and 38.2 in the 6-month treatment group. Time to frequent relaps was similar in both groups; however, the median was reached only in the 6-month group (799 days). The hazard ratio was 0.86 (90% confidence interval, 0.64-1.16) and met the non-inferior margin. Time to first relapse was also similar in both groups: median day 242 (2-month) and 243 (6-month). Frequency and severity of adverse events were similar in both groups. Most adverse events were transient and occurred during initial or relapse therapy. Thus, 2 months of initial prednisolone therapy for steroid-sensitive nephrotic syndrome, despite less prednisolone exposure, is not inferior to 6 months of initial therapy in terms of time to onset of frequently relapsing nephrotic syndrome.